Effect of dietary fiber on copper, zinc, and magnesium utilization by adolescent boys.

The effect of three dietary fibers on zinc, copper, and magnesium utilization by adolescent boys was studied. The 21-day study was divided into a 2-day introductory nitrogen depletion period, a 3-day adjustment period, and a four 4-day randomly arranged experimental period. During the four experimental periods, the eight adolescent male subjects received a basal diet plus 14.2 g supplements of cellulose, hemicellulose, or pectin. All subjects received all experimental diets. Zinc, copper, and magnesium contents of food, urine and blood serum were measured by atomic absorption spectrophotometry. Relatively small changes in urinary excretion or in blood serum contents of these minerals were found that could be attributed to dietary fiber supplementation. Statistically significant changes in fecal mineral loss were demonstrated. While receiving the basal diet alone or plus hemicellulose, cellulose, or pectin, mean fecal zinc contents (milligrams per subject per day) were 9.64, 13.32, 10.26, and 9.63, respectively; mean fecal copper contents (milligrams per subject per day) were 3.78, 5.04, 4.07, and 3.91, respectively; and mean fecal magnesium contents (milligrams per subject per day) were 303.71, 379.20, 325.69, and 278.48, respectively.


Dietary fiber and nutrient intake in Crohn's disease.

The mean daily intake of dietary fiber, sugar, starch, fat, protein, and total energy was determined in 35 patients with Crohn's disease and 70 normal controls by obtaining individual dietary histories. For each patient with Crohn's disease there two controls, matched for age, sex, and socioeconomic background. In the patients with Crohn's disease the mean dietary fiber intake was established as 26.6 +/- 1.4 g/day, compared to 22.3 +/- 0.9 g/day in the controls, and was thus significantly higher (P less than 0.05). When compared with the controls, the patients with Crohn's disease also exhibited a significantly higher consumption of sugar 156 +/- 14 versus 91 +/- 5 g/day (P less than 0.001), starch (211 +/- 10 versus 170 +/- 9 g/day (P less than 0.01)), and total energy (14.4 +/- 0.7 versus 12.3 +/- 0.5 MJ/ day (P less than 0.01)).


Diet-related toxemia in pregnancy. I. Fat, fatty acids, and cholesterol.

Toxemia in pregnancy (preeclampsia)is characteristerized by a combination of at least two of the following clinical symptoms: hypertension, edema, and proteinuria. In three successive trials over three consecutive years, the dietary intake of a selected number of young pregnant women attending a Maternal and Infant Care Program at Tuskegee Institute were evaluated for total lipids, individual fatty acids, and cholesterol. Women with toxemia or with any of the individual symptoms were identified and women without toxemia or these symptoms served as controls. Results were variable from repetition to repetition in all but the toxemia group and the edema group. The consumption of total lipids and cholesterol was significantly greater in all three trials by both the toxemia and edema groups. Also, total saturated, monounsaturated, and polyunsaturated fatty acids were eaten in greater amounts. The greatest differences were in palmitic acid, stearic acid, oleic acid, and linoleic acid. The proportion of unsaturated fatty acids consumed in all groups was very low. All differences could be attributed primarily to breakfast and dinner meals and were found in the milk, meat, and egg food groups. Although satistical correlations were found between lipid intake and toxemia of pregnancy any specific relationship between the two is still unclear.


Nutritional status of institutionalized and noninstitutionalized aged in Belfast, Northern Ireland.

A multifaceted analysis of the nutritional status of 196 subjects, aged over 65, institutionalized in hospitals, residential accomodation, and sheltered dwellings and of noninstituionalized subjects was untaken. Subjects of hospital and home, with or without multivitamin supplementation, were grouped separately. The study comprised of 3-day weighed dietary record, biochemical determinations, and clinical examination. The energy intake of females of hospitals and sheltered dwellings was comparatively low. Dietary nutrients most lacking were potassium, magnesium, vitamin D, and vitamin B6. Calcium and vitamin A intake were adequate. Clinical deficiency was rare. Subclinical deficiency was highly prevalent and the deficiency incidence was: anemia 18.6%, ascorbic acid 29.2%, thiamin 13.8%, riboflavin 7.1%, vitamin B6 42.3%, and vitamin D 47.0%. Some kind of mineral or vitamin deficiency was observed biochemically in 91.3% of the nonmultivitamin supplemented group and 64.3% of the multivitamin supplemented group. Regular intake of multivitamin raised the blood levels of riboflavin and ascorbic acid to normal in all, but failed to raise the thiamin and vitamin B6 levels to the normal acceptable levels in 2.9 and 20% of the subjects, respectively. Suggestions are made concerning possibly higher recommended allowance.


Lactose intolerance in Iran.

One hundred five Iranian subjects, ranging in age from 4 months to 25 years, were tested for lactose absorption and tolerance. After ingesting a lactose dose, on the basis of low blood glucose response, 68% of the subjects were malabsorbers. Prevalence of lactose malabsorption increased with age, i.e., 31% of the children less than 3 years of age malabsorbed lactose, whereas 86% of adults did so. Clinical manifestations of lactose intolerance were shown by 39% of all subjects; of those who were lactose malabsorbers, only 57% manifested clinical symptoms. Among the lactose malabsorbers, the lowest prevalence of clinical symptoms occurred among the children less than 3 years of age and the highest in adults.


In vivo measurements of body protein based on the determination of nitrogen by prompt gamma analysis.

Measurement of nitrogen in the human body gives a measure of total protein in the body. Nitrogen (N) may be measured in vivo by a nuclear technique in which the characteristic nitrogen gamma rays emitted after capture of neutrons are detected and counted. The accuracy (as determined by comparison of the measurement of nitrogen in a pig by nuclear and chemical methods) is better than 10%. The reproducibility is less than 6%. The radiation dose is about 5 millirads. This method had been used with 43 patients and 23 normal volunteers and the results are reported. The data are presented in the from of total N content, percentage N by weight, and as a comparison of N and potassium (K) in the body. It is found that the mean percentage of N in the normal males is 2.5%, giving a value of 1.75 kg in the 70-kg standard man. The mean percentage values are not greatly different between normal volunteers and malnourished patients. Taking all subjects, N/K ratios ranged from 7.5 to 20 g/g. Thus K cannot be used as a predictor of N. Nitrogen content of normals correlates well (r = 0.68) with height squared; for malnourished patients there is again a good correlation (r = 0.81) but the regression line for patients is approximately 34% below that for the volunteers consistent with their depleted state.


Lactose malabsorption in Bangladeshi village children: relation with age, history of recent diarrhea, nutritional status, and breast feeding.

The prevalence of lactose malabsorption (LM) among Bangladeshi village children has been determined using the recent developed breath hydrogen test. Initial hospital-based comparison studies showed general agreement between the breath hydrogen test and a modified lactose tolerance test. Two hundred thirty-four children, stratified by age, nutritional status, and history of recent diarrhea then participated in the field study. LM was diagnosed in more than 80% of children over 36 months of age but in none of the children under 6 months. Rates of LM were significantly increased in children with a history of recent diarrhea and a greater proportion of children in some age groups evidenced malabsorption in association with acute undernutrition. In the weanling age group children who were still breast feeding had a lower rate of LM than fully weaned subjects.


Myoglobin in myocardial infarction. Results in a coronary-care-unit population.

The purpose of this study was to define the performance characteristics of serum myoglobin determinations in the diagnosis of acute myocardial infarction (MI). Subjects of the study were 118 patients admitted consecutively to the coronary care unit. Daily measurements of serum myoglobin (by radioimmunoassay) were performed. For patients admitted within 24 hours of the onset of symptoms, a serum myoglobin level of 75 ng/ml had a diagnostic sensitivity of 91% and a specificity of 85%. In the same group of patients, the presence of the myocardial isoenzyme of creatine phosphokinase (CK-MB) showed a sensitivity of 94% and a specificity of 89%. Among the 32 patients with MI, the elevation of myoglobin preceded the appearance of CK-MB in 12 (38%), was concomitant with CK-MB appearance in 15 (47%), and followed CK-MB in none. Given the spectrum of patients in this coronary care unit, the addition of the myoglobin assay to the heart profile has increased its sensitivity for the diagnosis of MI. The assay materials are available in kit form, and the test can be performed in the routine radioimmunoassay laboratory. The results are available for reporting four to five hours after venipuncture.


Comparison of the chloride electrode and gravimetric chloride titration sweat tests.

The chloride electrode sweat test and gravimetric chloride titration technic are compared. The two technics gave comparable mean values, ogives, equivalent points, and overlap for patients with cystic fibrosis and healthy subjects. As a single test with either technic has an unacceptable risk for false-positive or false-negative results, tests should always be done in pairs. A statistical interpretation technic based on prevalence and technical variability of the two tests will decrease the number of undiagnosed subjects and will define probability of cystic fibrosis in the undiagnosed group.


Comparison of an automated radioimmunoassay method and a competitive protein-binding method for evaluation of serum cortisol.

A competitive protein-binding method (CPB) for serum cortisol determination has been compared with a newly developed automated radioimmunoassay (RIA) technic with respect to reproducibility and correlation of patient results. The RIA method uses an immobilized anti-cortisol antibody covalently coupled to the inner surface of a plastic cartridge. A mixture of 3H-labeled and unlabeled cortisol is passed through the cartridge to achieve separation of free and bound cortisol. The bound cortisol is later eluted to regenerate the antibody for the next sample. The RIA procedure had a day-to-day coefficient of variation (CV) of 7% at three cortisol levels. The CPB method had a day-to-day CV of 10% at a concentration of 8 microgram/dl. A comparison of 67 patient samples showed no statistically significant difference between the methods. The regression equation was RIA = 0.96 CPB + 0.14 microgram/dl, with a correlation of 0.92.


Evaluation of commercial enzyme reagent kits by use of a semiautomated chemistry analyzer.

The overall performances of several enzyme reagent kits for alkaline phosphatase, creatine kinase, lactic dehydrogenase, and aspartate aminotransferase were evaluated using an ABA-100 Bichromatic Analyzer. Interassay precision using this instrument with commercial reagents compared well with published data for similar analyses performed at university hospitals and referral laboratories. Significantly poorer precision with lower limits of linearity was observed when reagents recommended for use at 30 C were used at 37 C. Significant differences in measured levels of creatine kinase, lactic dehydrogenase, and aspartate aminotransferase due to different lots of expendable cuvettes were found for elevated levels of these enzymes. All kit reagents met manufacturers' claims for stability; however, different absolute levels of lactic dehydrogenase were observed with one kit reagent on successive days. Slight hemolysis affected creatine kinase levels measured with some reagent kits significantly more than others.


Quality control by blind sample analysis.

Quality control efforts may be biased consciously or unconsciously. External programs are handicapped by the time lapse before poor performance is disclosed. Bias induced into internal and external quality control efforts by special handling may be eliminated through submission of blind samples originating from wards, clinics, or phlebotomy areas. Evaluation of laboratory performance is obtained under conditions similar to those experienced by the patients' specimens. Calibration performance by operators, which varies considerably, can be monitored. Laboratory clerical activity can be scrutinized and errors quantitated and corrected. Perhaps most important, the sum of the effects of specimen handling and analytic variability can be determined.


Transcatheter bronchial brush and forceps biopsies. Histologic evaluation.

The histologic findings in transcatheter brush and forceps biopsies from 472 cases over a six-year period are evaluated. Diagnostic accuracy based on histologic findings was 38% and based on cytologic findings was 70%. When the two methods of examination were used, however, the overall accuracy was improved to 76%. In Hodgkin's disease and some inflammatory processes histologic examination is essential for the diagnosis. The transcatheter biopsies under fluoroscopic control are especially useful for securing tissues from the peripherally located lesions. When possible, examination of tissue obtained by transcatheter as well as forceps biopsies is encouraged.


Genital mycoplasma infection. Intrauterine infection: pathologic study of the fetus and placenta.

Mycoplasma infection was present in the fetuses from three spontaneous abortions and in one second-trimester newborn. Gross examination revealed in most cases a severely infected placenta and membranes, with a fetus of normal appearance. The fetal infection presumably followed placental involvement and appeared to have been acquired shortly prior to delivery. Genital mycoplasmas, Ureaplasma urealyticum or Mycoplasma hominis, were isolated from the placentas and the fetal tissues, and from the genital tracts of the mothers. Isolation of mycoplasmas from the liver indicated that bloodstream dissemination of these organisms occurred in the fetus. In the fetus, the pathologic changes were variable. Lesions were identified in the lung by scanning electron microscopy of the bronchial tree in two cases and were accompanied by interstitial pneumonia. An abnormally dilated left ventricle suggestive of cardiomyopathy was observed in one case.


A precision study of a photo-optical factor VIII assay technic.

Various methods of factor VIII analysis with a wide range of accuracies as confirmed by calculated coefficients of variation have been devised. The authors report a technic of factor VIII assay using a photo-optical clot-detection instrument with commercially available sources of factor VIII-deficient plasma and lyophilized normal control plasma, and compare its accuracy, ease of performance and reliability with those of existing methods. The accuracy of the technic was established by a survey of a normal control group, which revealed a mean value of 100% factor VIII activity, range 55-200%. The coefficients of variation of this unique technic, determined both by clotting time in sec (1.4%) and by the derived percentage activity (7.0%), reflect the greater reproducibility and reliability of the assay as compared with previously reported methods. We feel that this method of factor VIII assay should be utilized for specific diagnostic information regarding patients who have factor VIII disorders.


Analyzing large numbers of data with a programmable calculator. Technic and applications.

Programmable calculators or minicomputers can be used in many laboratory activities, including tasks for which large numbers of data must be analyzed. A technic for organizing data into records and files for storage on magnetic tape and for using an index to find the locations of stored data quickly is described. Applications of the technic for analysis of quality control results, determination of potential HLA-compatible tissue donors, and analysis of laboratory administrative data are presented. These applications were written for use with a small programmable calculator.


Comparison of the errors due to the use of gauze and the use of filter paper in the gravimetric chloride titration sweat test.

Potential sources of error in the Gibson and Cooke method of sweat testing using gauze and filter paper as collection media as described. The absolute chloride content of gauze was higher than that of filter paper; however, the variability of chloride contents between the two was insignificant. Complete chloride elution from filter paper requires more time than elution from gauze. A method of determining probability of a clinically acceptable measurement based on sweat sample size, chloride determination, and variability of chloride in collection media is also described.


Diagnosis of toxoplasmosis by electron microscopic fine-structural analysis.

The analysis of fine structures by electron microscopic examination of ultrathin tissue sections permitted a diagnosis of toxoplasmosis in a fatal human case that would have gone undiagnosed by conventional methods. Examination of histologically prepared sections revealed organisms that were morphologically nondiagnostic. Fine-structural analysis showed the organisms to be 3 x 2 micrometer in size, to contain few micronemes, to contain as many as nine rhoptries, to possess an apical conoid, and to multiply by endodyogeny. The features corresponded to those observed in fine-structural analyses of Toxoplasma gondii grown in animals by Scholtyseck and Mehlhorn. Fine-structural analysis can be a valuable adjunct in the diagnosis of toxoplasmosis.


Infection of a burn wound by Aspergillus niger. Gross appearance simulating ecthyma gangrenosa.

Growth of Aspergillus niger on a burn wound clinically simulated the early (hemorrhagic) phase of an invasive infection by Pseudomonas aeruginosa or ecthyma gangrenosa. Wound biopsy for histologic examination and culture readily yielded a definitive diagnosis of noninvasive mycotic infection of the burn wound. Pigmentation surrounding mycotic hyphae (otherwise typical for Aspergillus spp.) strongly suggested Aspergillus niger. Cultural data confirmed the diagnosis.


Accuracy in interlaboratory quality control programs.

Interlaboratory quality control programs provide an important contribution to achieving and maintaining accuracy in clinical laboratories. The various strategies for providing accurate target values in the two principal types of interlaboratory programs are reviewed.


Analytic clinical laboratory precision. State of the art for twenty-nine analytes.

Relationships of concentration and coefficient of variation are described for 29 clinical laboratory analytes. Estimated mean regression curves and the standard deviations of individual laboratory coefficients of variation about the mean regression are calculated. Twenty-seven analytes showed a significant relation between concentration and coefficient of variation. State of the art precision is compared to medical goals. The average coefficient of variation for one analyte, calcium, fails to meet medical goals for manual methods. The distribution of individual laboratory precision above average state of the art figures is discussed. The proportion of laboratories failing to meet medical goals is large for osmolality, as well as manual calcium methods.


Stability of mean values of organic analytes in lyophilized quality control serum. A study utilizing data from the Quality Assurance Service (QAS) Program of the College of American Pathologists.

The long-term stability of mean values of six organic analytes in 48 commercial pools of lyophilized chemistry quality control serum is evaluated. These pools, provided by five manufacturers, have been used by nine Regional Quality Control Programs participating in the College of American Pathologists Quality Assurance Service. Creatinine yielded stable mean values in 88% of the pools studied. Both albumin and urea nitrogen demonstrated manufacturer and method-related changes in mean values. Bilirubin, cholesterol, and uric acid changes in mean values were independent of control serum manufacturer, predominant in calibrator-standardized automated procedures, and were clustered by years.


The 1978 College of American Pathologists survey of analyses of five serum enzymes by 450 laboratories.

Sets of survey specimens having known linear interralationships were analyzed on four occasions by approximately 450 laboratories for the five enzymes lactate dehydrogenase, aspartate aminotransferase, creatine kinase, alanine aminotransferase, and alkaline phosphatase. The results are summarized in terms of the apparent precision and relative accuracy of various analytical systems, and some apparent problems in enzyme assays are identified. The results show that interlaboratory differences in enzyme analyses are not due primarily to differences in the way laboratorians utilize their analytical systems but rather are due to fundamental differences in the instruments and reagents supplied to the laboratorians. The attainment of interlaboratory comparability of enzyme analyses is a problem that can best be addressed by the manufacturers of instruments and reagents, rather than by individual laboratorians.


Evolution of the Urinary Chemistry, Survey Program of the CAP.

Thirteen analytes were presented in the Urine Chemistry Survey Program during the year 1978. These included amylase, calcium, phosphorus, sodium, potassium, creatinine, osmolality, total protein, glucose, and urea nitrogen as regular constituents. Optional analytes included 17-ketosteroids, 17-ketogenic steroids, and vanillylmandelic acid. Certain samples elevated sodium, potassium, calcium, and phosphorus concentration to stimulate human disease states and to test consensus results in ranges heretofore not possible. Serious loss of precision performance was not noted although some methods are noticeably affected. Improvement in interlaboratory precision has sllowed as compared with previous years.


The 1978 College of American Pathologists Therapeutic Drug Monitoring Interlaboratory Survey Program.

In 1978 the College of American Pathologists introduced a Therapeutic Drug Monitoring Interlaborabory Survey Program. Each participant recieved six vials of lyophilized human serum on two occasions, approximately 13 weeks apart. The specimens contained various combinations of 12 drugs in subtherapeutic, therapeutic, and toxic concentrations. The drugs included in the specimens were phenytoin, phenobarbital, primidone, ethosuximide, carbamazepine, digoxin, procainamide, N-acetylprocainamide, quinidine, theophylline, lithium, and gentamicin. The weighed-in quantity of each drug was used as the target value for that drug. The specimens were analyzed by a variety of analytic methods. Statistics were calculated for all results regardless of the analytic method used and for each individual method. This report presents the data from the Program.


Changes in level of precision of common ligand assays during a seven-year interval.

Nine commonly performed radioligand analyses were studied for periods of four to seven years in terms of change in level of precision. Consistent improvement in precision is generally observed, except in specific instances when pool characteristics are altered to study sensitivity and crossreactivity.


Clinical laboratory estimations of serum and urinary phosphate.

Data from the 1977 College of American Pathologists (CAP) Chemistry Survey Program have been analyzed in order to evaluate currently used laboratory methods for determination of serum and urinary phosphate concentrations. The methods may be divided into those based on (1) molybdate and a reductant, (2) molybdate without a reductant (UV), (3) dye-binding, and (4) enzymatic (UV) assays. The majority of CAP Survey participants use a molybdate and reductant technic. Procedures using other reductants such as ferrous sulfate, ascorbate, and p-methylaminophenolsulfate manifest a slight positive bias. Compared to an overall mean concentration index, the SMAC-UV method manifests a considerable negative bias.


Serum uric acid.

Data from the 1977 College of American Pathologists (CAP) Comprehensive Chemistry Survey and other programs have been analyzed in an interlaboratory comparison of the measurements of serum uric acid. The majority of clinical laboratories utilize some form of phosphotungstic acid (PTA) oxidation-reduction technic for the measurement of uric acid. Methods based on uricase are most often performed on some automated device. In this Survey, in which specimens containing minimal potential interfering compounds were used, there are no significant differences in the results obtained by phosphotungstic acid and uricase methods.


Glucose measurements. A 1977 CAP Survey analysis.

An anlysis of the 1977 College of American Pathologists (CAP) Comprehensive Chemistry Survey program for glucose measurements is presented. Based on average mean concentrations compared with all-method mean concentration, hexokinase methods are the most accurate. Glucose oxidase-oxygen rate methods demonstrate the best precision in interlaboratory comparison statistics. Neocuproine methods for glucose manifest unacceptable positive biases when compared with overall mean concentrations and other methods. Accuracy and precision indices for glucose measurements in urine are well below those obtained in serum. Again, redox methods, such as those based on neocuproine and ferricyanide, perform so poorly that they should be eliminated.


Laboratory intercomparison of commerical digoxin kits.

Results of recovery, precision, and effect of a protein deficient matrix on commercial digoxin assay kits is reviewed for pools distributed in 1978 by the Basic Ligand Assay Survey Program of College of American Pathologists. Variability among kits is present in terms of all three areas studied. Nevertheless, commonly used methods by participants have recovery rates approaching 100%; coefficients of variation are less than 10% at therapeutic serum levels.


Cap survey results for factor VIII assays (1977-1978).

This paper combines the data from the 1976, 1977, and 1978 CAP Surveys concerning factor VIII methods. The different instrument-reagent combinations are ranked according to precision and sensitivity. The results of questionnaires on specific assay technic from 1977 and 1978 are analyzed. The number of laboratories performing factor VIII assays has increased from 1976 to 1978. There was a poor correlation between precision and sensitivity in most systems. For any given system, there was considerable variation in precision from a normal factor VIII level specimen to a low factor VIII specimen. Certain technics, such as the dilutions on normal plasma used to construct the standard activity curve, show considerable interlaboratory variation. The need for standardization of factor VIII assay methods is evident from this study.


The Comprehensive Blood Bank Survey Program of the College of American Pathologists--1977.

The 1977 CAP Comprehensive Blood Bank Survey was sent to 2487 laboratories in the United States and five foreign countries. The results show that ABO and Rh testing has a continued concurrence of greater than 94.8% between participating and referee laboratories, while antibody detection was 95.9% effective on the type problem normally encountered in a transfusion service. Cross match showed a concurrence rate of 97.3% or better. Although these testings are artificial and cannot be directly extrapolated into effectiveness of patient care, they can be compared with each other and show a standard of excellency in the laboratory which is a good or better than that found in previous studies. A series of ungraded specimens and questionnaires shows that most laboratories used a 51 degree C heat elution method for antibody elution, but slightly better results were obtained with the Rubin technic. A second study showed that the grading of a positive direct antiglobulin test was fairly reproducible throughout the country.


Quality control of agar diffusion susceptibility tests.

Since its beginning in 1974 over 180 laboratories have participated in the Microbiology Program of The College of American Pathologists Quality Assurance Service submitting a total of 2,372,000 individual antibiotic determinations on three quality control reference stains. Eighty-nine and five tenths percent of these determinations were obtained using the standard Bauer-Kirby method; 8.4% using the agar overlay modification of Barry and associates. Standard statistical analysis of data obtained using the Bauer-Kirby method have been reported for each antimicrobic/reference strain combination. Comparisons have been made between the QAS data and those data obtained in earlier collaborative studies which currently serve as precision and accuracy control limits. In many cases QAS data exceed the existing control limits.


Identification of fecal parasites in the Special Parasitology Survey of the College of American Pathologists.

Review of participant performance in the Special Parasitology Survey of the College of American Pathologists for the years 1973-1977 shows that laboratories are generally able to identify helminth eggs and larvae in formalin-fixed fecal material but have difficulty identifying protozoa in formalin-fixed fecal material and in permanently stained slides. Ability to identify some protozoa has improved during the period reviewed. Well-trained personnel and access to reference materials should lead to improved performance.


Statistical principles underlying analytic goal-setting in clinical chemistry.

The Survey programs of the College of American Pathologists (CAP) have assessed current levels of analytic variance in many biochemical measurements, and a number of clinical chemists have proposed analytic goals. The practical importance of further reductions in analytic variance depends on the specific use of the laboratory test. Three general areas of application are described: 1) surveying a population to detect disease, 2) determining whether a particular individual's level of a given analyte is above or below a predefined alarm point, 3) monitoring an individual over a period of time to detect trends. Within each of these different contests, statistical methods are proposed for judging the practical effect of improvements in current levels of analytic precision, taking into account recent estimates of biological variation within the average individual and between individuals. As might be expected, reductions in analytic variance have greatest impact in those applications where biological variance is minimal. Such reductions will generally have little effect on the efficiency of a population survey but may be extremely valuable in decision-making concerning a particular hospital patient.


Mammary carcinoma with osteoclast-like giant cells. A study of eight cases with follow-up data.

Eight cases of a rare, distinctive variant of infiltrating mammary carcinoma featuring benign multinucleated osteoclast-like giant cells are reported. The multinucleated osteoclast-like giant cells are reported. The multinucleated giant cells were associated with ductal carcinoma in five cases and with infiltrating lobular carcinoma in three cases. Although three patients had lymph nodal metastases in level one, none of the nodal metastases contained giant cells. From the limited follow-up data of this report, it seems likely that the prognosis for patients who have this type of adenocarcinoma is not especially favorable. The observation that the giant cells generally occurred in areas of prominent angiogenesis suggests that the angiogenesis may be induced by some chemical substance produced by the tumor cells. Biochemical and immunologic investigations may eventually provide an explanation for this unusual morphologic manifestation of host reaction to mammary carcinoma.


Prognostic factors in adrenal cortical tumors. A mathematical analysis of clinical and morphologic data.

Forty-one patients with adrenal cortical tumors were evaluated retrospectively for the presence of histologic and non-histologic features associated with malignant behavior. The patients who survived operation were followed at least five years. The association of these features with subsequent metastasis was examined by both parametric and nonparametric statistical methods. Twelve criteria were statistically significant in predicting subsequent metastasis. The most significant of these were: clinical evidence of weight loss, broad fibrous bands traversing the tumor, a diffuse growth pattern, vascular invasion, tumor cell necrosis, and tumor mass. The tendency toward metastasis for each tumor was expressed in indices that correlated well with diagnoses made by conventional histologic means, but were more accurate in predicting subsequent clinical behavior than nonquantitative methods of evaluation.


Studies of end-stage kidneys. III. Glycogen deposition in interstitial cells of the renal medulla.

Examination of kidneys of ten patients with uremia and severe hypertension treated by chronic intermittent hemodialysis revealed a deposition of glycogen within interstitial cells of the renal medulla. This is unlike any described renal distribution of glycogen. Electron microscopic studies performed in one case demonstrated monoparticulate glycogen both diffuse in the interstitial cell cytoplasm and locally aggregated beside lipid droplets. The findings provide evidence for a metabolic abnormality of renal medullary interstitial cells in patients who have protracted uremia.


Detection of fibrin monomer. Comparison of the immune precipitate method with the serial-dilution protamine sulfate test and the ethanol gel test.

In a previous publication, a method for measuring fibrin monomer in plasma with the use of an immune precipitate of fibrinogen was described. The method was found to be more sensitive to unstabilized fibrin monomer than the serial-dilution protamine sulfate test, or the ethanol gel test, and detected fibrin in a mixture of the plasmin digestion products of fibrin. In the present study the sensitivity of the immune precipitate method for detecting specific plasmin digestion products of fibrin X, Y, D, and E, its sensitivity for stabilized fibrin monomer complexes, and its sensitivity for fibrin retaining B-peptide were measured and compared with the corresponding sensitivities of the serial-dilution protamine sulfate test and the ethanol gel test for detecting these same products. The immune precipitate method was found to be highly sensitive to stabilized fibrin monomer complexes and to fibrin retaining B-peptide; to be significantly less sensitive to the plasmin digestion fragments X, Y, and E; and to be insensitive to fragment D. The serial-dilution protamine sulfate test and the ethanol gel test were found to be insensitive to all of the plasmin digestion products of fibrin and less sensitive to the other fibrin complexes.


Reliable estimation of hemoglobin A2 concentration by electrophoresis with densitometry.

Elevated hemoglobin A2 (Hb A2) levels can be identified conveniently by densitometry after electrophoresis on cellulose acetate strips. Because a recent report questioned the accuracy of this technic, the method was re-evaluated by paired comparison with microcolumn chromatography. Analysis of 100 patient specimens showed high correlation (r = +0.84), but an average Hb A2 concentration 0.7% higher by densitometry than by chromatography (P less than 0.001). With upper limits set at 4.5%, and 3.8%, respectively, results were divided into "normal" and "high" for each method. Concordant results were obtained in 97 of the 100 cases (82 normal, 15 high). Another densitometer of improved design was used for paired analysis of 50 additional specimens, 25 normal and 25 with beta-thalassemia trait. The two groups were well separated by both procedures, and Hb A2 levels were similar (r = +0.92, P greater than 0.6). This study demonstrates that it is possible, with carefully controlled technics and properly calibrated instruments, to use electrophoresis with densitometry as a reliable means of identifying abnormal Hb A2 levels.


Quantitation of hemoglobin F. An interlaboratory study.

Samples of whole blood from four hematologically normal adults and from two individuals with increased fetal hemoglobin levels were shipped to laboratories participating in the 1976 and 1977 Center for Disease Control (CDC) hemoglobinopathy proficiency testing surveys. The data from these surveys were used to evaluate the interlaboratory variability of current methods used to quantitate hemoglobin F (Hb F). Results of Hb F quantitation obtained from more than 100 laboratories than voluntarily participated in the survey were compared with those obtained from 21 reference laboratories. Individual values for all samples varied greatly among laboratories and among methods. Results returned by most of the laboratories were outside two standard deviations of the reference laboratory mean and were not accurate enough to differentiate between a normal level and an increased, abnormal level.


Intralaboratory quality control of hematology. Comparison of two systems.

Two systems for quality control have been compared, viz., the whole-blood control preparation method and the algorithm method using the geometric moving average XB and a new estimator Y. The system involving whole-blood controls has the advantage of simplicity of operation, but the economic cost of commercial preparations is often high. The algorith system has the advantage that results of all the test samples are used in the calculation; to some extent, this provides a buffer against random variation. The number of count-outs in a given channel is related to the precision of the channel, which in turn is a function of the number of determinations and calculations required for that result. An error of around 1% is introduced into the result each time a calculation is performed. A successful quality control scheme should contain elements of both control preparation and algorithm methods.


Quantitation of rheumatoid factor activity by nephelometry.

Rheumatoid factor activity can be quantitated by use of nephelometric assay system. The data presented show a good correlation between this new method and the older quantitative latex tube rheumatoid factor test. In addition, the nephelometric and latex tube testing of sera from normal, rheumatoid and non-rheumatoid patients yielded similar results, suggesting the two procedures share a similar immunologic specificity. The new nephelometric test for rheumatoid factor is simple to perform, endpoints are objectively determined, and test data are highly reproducible.


Pseudospirochetes, a cause of erroneous diagnoses of leptospirosis.

Motile filaments of varying lengths and thicknesses were observed by darkfield microscopy in a blood culture of a specimen from a patient who had fever of unknown origin. Similar structures were also seen in cultures inoculated with donor blood from healthy controls. Since the movement and configuration of the structures were not characteristic for spirochetes, the morphologic features were further examined by electron microscopy. The filaments observed were identical in appearance to pseudospirochetes described more than 50 years ago. The authors' observations indicate that they are derived from erythrocytes. Because of possible confusion of these pseudospirochetes with living organisms, the diagnosis of leptospirosis by darkfield microscopy should be confirmed by cultural or serologic tests.


Inhibition by ascorbic acid (vitamin C) of chemical detection of blood in urine.

Review of results of 9,620 consecutive urinalyses revealed 892 urines that contained microscopic evidence of erythrocytes and 98 for which there were discrepancies between microscopic evidence of hematuria (greater than 20 erythrocytes/high-power field) and chemical detection of blood (0 or "1+" when results should be "3+"). Eleven specimens (from ten patients) showed negative results of chemical tests for blood and greater than 40 erythrocytes/high-power field (HPF). Nine of these patients were receiving ascorbic acid supplementation. In a random sample of 20 patients with greater than 40 erythrocytes/HPF and strongly positive tests for blood, none was receiving ascorbic acid, a significant difference by chi-square analysis. In a prospective study, low levels of ascorbic acid inhibited chemical detection of blood. At 25 mg/dl ascorbic acid, 10--20 erythrocytes/HPF could not be detected; at 35 mg/dl ascorbic acid, greater than 20 erythrocytes/HPF were undetectable. For quantitation of the low level at which ascorbic acid inhibits chemical detection of blood, fresh urine specimens should be analyzed. Ascorbic acid is oxidated in vitro to products that partially inhibit detection of blood yet do not assay as ascorbic acid.


Erythrocytic ecdysis. An unusual morphologic finding in a case of sickle cell anemia with intercurrent cold-agglutinin syndrome.

Examination of peripheral blood smears from a patient with sickle cell disease during crisis associated with an upper respiratory tract infection, pneumonia, a positive Coombs test, and an elevated cold agglutinin titer revealed unique abnormalities associated with her erythrocytes, which have not been reported previously. In addition to the usual changes in peripheral blood occurring during crisis in sickle cell anemia, large numbers of free, filamentous forms that appeared to be derived from erythrocytes were present on repeated Wright's-stained smears. Erythrocytes were markedly distorted and had single and multiple surface protrusions that appeared to be antecedents of the free filamentous forms. Scanning electron microscopy confirmed the marked changes in the erythrocytes and revealed membrane alterations not apparent by use of the light microscope. It is suggested that the membrane stripping observed in this case was due to cold agglutinin--complement-mediated surface injury superimposed on the known abnormalities of the membranes of sickle erythrocytes.


Tumor-simulating retrorectal heterotopia of bone marrow.

A retrorectal tumor-simulating mass of extramedullary hematopoiesis was discovered during work-up for uterine bleeding in a 40-year-old woman. It was excised in toto. The only hematologic abnormality at the time was iron deficiency, which was corrected. Six years later the patient is free of recurrence or any hematologic abnormality. It is suggested that this case represents heterotopic marrow arising either as a remnant of embryonic hematopoiesis or from activated primitive cells retaining the embryonic potentiality of hematopoiesis. The difficult diagnostic problems, pathogenesis and treatment are discussed, and the importance of recognizing the trilineage of hematopoiesis using Wright's-stained imprints of the mass is emphasized.


Myxomatous degeneration of the mitral valve complicated by nonbacterial thrombotic endocarditis with systemic embolization.

Myxomatous degeneration of the mitral valve is a disease of unknown etiology that is associated with many ominous complications. A case in which non-bacterial thrombotic endocarditis, superimposed on a myxomatous mitral valve, resulted in systemic embolization to the brain, heart, and kidney is presented. The purpose of this report is to describe a serious and previously unreported complication of myxomatous degeneration of the mitral valve.


Issues in replicating the trauma--Stren conversion.

The Trauma--Stren (T-S) conversion procedure was examined at a large state university and the construct related to personality and cognitive process variables. Significantly more respondents reported T-S conversion than in the original studies. Conversion was not significantly correlated with personal variables. The presence of experiences in which an event was reported as simultaneously traumatic and strenful is reported, and the criteria for clearly identifying the conversion phenomenon are questioned.


Attitudinal versus ecological approaches to the characterization of institutional treatment environments.

The relational and discriminative properties of attitudinal and ecological measures of environments were examined within the context of a state hospital for mentally retarted clients. Three hypotheses were advanced, and the results gave substantial support for one of these and partial support for a second: (a) that the correlations between attitudinal and ecological measures should not differ significantly from zero, and (b) that differences among hospital treatment programs and living units should be reflected in ecological but not in attitudinal measures. However, the results did not provide clear confirmation for a third hypothesis: that differences among staff demographic characteristics and employment history should be reflected in attitudinal but not in ecological measures. It was suggested that these background variables may not be appropriate measures of personality-linked attributes.


Relationships among experience level and value orientation and the performance of paraprofessional telephone counselors.

The effectiveness of indigenous paraprofessional helpers is thought to be partially due to the similarity in style and values between then and their clients. However, there is a concern that as they gain experience in an agency, their identification may shift from the clients to the agency. Also, there is a question as to how effective paraprofessionals (selected due to their shared values with a target population) are with value-dissimilar clients. Truax and Carkhuff's scales of facilitative conditions as well as a technique functioning scale were used to assess the helping behavior of paraprofessional telephone counselors at three levels of experience in response to value-similar and value-dissimilar simulated calls. The results indicate that performance generally improved with training and experience and that instead of a uniform deterioration with dissimilar value calls, a complex relationship existed between performance, values, and experience level.


Goal attainment and satisfaction scores for CMHC clients.

The purpose of this study was to explore the psychometric properties of goal attainment scales and client satisfaction measures. The findings revealed that goal attainment results, like other types of self-report psychotherapy outcome measures, are directly related to (a) indicators of a client's social class, and (b) the manner of treatment termination (unilateral dropout vs. mutual consent). The extent of client--therapist agreement on goal scores was relatively low thereby supporting the necessity of obtaining both perspectives in evaluating treatment outcome. Furthermore, because measures of client satisfaction were found to be sufficiently independent from goal outcome scores, it was concluded that they provide a unique source of program evaluation data. Finally, it was concluded that Goal Attainment Scaling is best considered to be a quality assurance tool for individual client/therapist dyads rather than a mechanism for the determination of the effectiveness of specific mental health programs and services.


Maladapting preschool children: identification, diagnosis, and remediation.

This article evaluates a preschool intervention program conducted as a part of the Wayne State University Preschool Project. The project's aim is (a) to provide early identification of preschool age children experiencing mental health problems, and (b) to reverse the diagnosed deficiencies, particularly among high risk children. The program was evaluated with children ranging in age from 3 to 4 years, within demographically comparable regions in the Detroit School System. Pretest and posttest measures were taken on the AML Scale and the Caldwell Preschool Inventory. Pretest scores were used to establish high risk children. A prescriptive intervention program was established within one region, aimed primarily at reducing adjustment problems among high risk children. The analysis of posttest data revealed more favorable scores among experimental children when compared to control children. In addition, evidence is provided of specific benefits for high risk children in the experimental program.


Factors associated with number of treatment interviews of patients from a barrio neighborhood mental health service: a cross-validation.

Demographic and treatment variables were, for a second time, found associated with number of treatment interviews completed by lower socioeconomic patients of a barrio area neighborhood mental health service. Of the eight variables that originally differentiated patients with respect to number of interviews, six remained significant on cross-validation. The longer staying patients were characterized by: young adult age range; disrupted marital status; self-referral; using psychotropic medication; major and secondary problems of anxiety and depression.


Parathyroid autotransplantation in renal osteodystrophy.

Severe renal osteodystrophy with metaphyseal fractures developed in two children with hypoplastic-dysplastic kidneys and chronic renal failure despite therapy with vitamin D, CaCO3, phosphate-binding agents, and protein restriction. Serum immunoreactive parathyroid hormone (iPTH) levels were elevated to 709 and 1,537 pg/mL (N = 255 +/- 92 pg/mL). Total parathyroidectomy and then autotransplantation of a small portion of parathyroids into the left brachioradialis muscle resulted in complete healing of renal osteodystrophy with the same dose of vitamin D. Serum iPTH and histological studies have demonstrated functioning parathyroid autotransplants, 19 and 20 months postoperatively in these two patients. Advantage of such a procedure over 3 3/4 parathyroidectomy is that this transplanted parathyroid tissue is easily accessible for partial removal in case of recurrence of uncontrollable hyperparathyroidism. We believe that total parathyroidectomy and autotransplantation can be successfully performed even in small children.


The cutaneous manifestations of child abuse and neglect.

The most easily recognizable physical manifestations of child abuse and neglect are seen in the skin. The findings may be the result of intentional trauma, neglect to provide adequate child care, alterations in family dynamics, or the emotional problems secondary to the maltreatment.


Burns as a manifestation of child abuse and neglect.

A multidisciplinary child abuse team investigated children with burns admitted to a general hospital in Tulsa, Okla. Of the 26 burn cases investigated, 14 were found to be accidental, seven accidental with extreme degrees of neglect, and five nonaccidental burns. There are correlations between physical findings and social characteristics, which may aid in the identification and disposition of children with burns. A multiplicity of injuries suggests that nonaccidental burns are not spontaneous abuse, but a planned form of aggression. The high mortality of the abused group indicates the seriousness and severity of nonaccidental injuries. This experience has also shown that nonaccidental burns in children demand a thorough investigation of medical, social, and emotional factors.


Relative usefulness of three growth hormone stimulation screening tests.

One hundred ninety-one children were tested by one of three screening procedures for growth hormone deficiency over a five-year period. Sleep screen yielded a 31.3% false-positive rate; levodopa administration alone yielded a 20.5% false-positive rate and levodopa in combination with propranolol yielded a 5.2% false-positive rate. These results support the view that the combined levodopa-propranolol hydrochloride screen test is superior to either the sleep or the levodopa screen tests in limiting the number of false-positive results and thus the need for further, more extensive testing.


Postvaricella suppurative meningitis. Case reports and review of the literature.

Suppurative meningitis should be recognized as being a complication of varicella. The clinician must assiduously exclude suppurative meningitis that at times may be clinically indistinguishable from the typical postinfectious encephalomyelitis of varicella. Misdiagnosis of the cause of CNS alterations during the course of varicella is possible.


Increased incidence of lactobezoars in low birth weight infants.

Fifteen low birth weight infants had their conditions complicated by the formation of a lactobezoar. The mean gestational age was 30.3 weeks; mean birth weight was 1,184 g, and the mean age at the time of diagnosis was 11.8 days. Twelve of the infants were receiving an 80 kcal/dL-formula and one infant, a 40 kcal/dL-formula designed for the premature infant. Symptoms included abdominal distension, emesis or increased gastric residual, diarrhea, hematest-positive stools, abdominal mass, and gastric perforation.


Intraventricular hemorrhage in the neonate born at term.

Four term infants were found by computerized cerebral tomography (CT) to have intraventricular hemorrhage. All were male infants who had experienced substantial intrapartum complications. One infant had subtle clinical signs at 2 days of age; the others had major neurologic findings including seizures and ophthalmoplegia that occurred at 1, 4, and 6 weeks of age, respectively. Three infants in whom the hemorrhages were indistinguishable by CT from those described in preterm infants now have arrested hydrocephalus and normal development. The fourth infant was found to have a large glioblastoma at the site of origin of his initial hemorrhage. These cases emphasize the need to consider this diagnosis in neonates born at term who have abnormal neurologic signs.


Catheterization of the posterior tibial artery in the neonate.

Catherization of the posterior tibial artery provides an alternative to cannulation of other arteries. We successfully catheterized this artery 17 times in 15 neonates whose weights ranged from 800 to 3,000 g. The catheters were placed percutaneously 13 times and by cutdown four times, and they remained in place for as long as 12 days (mean, 96 hours). Compromise of distal circulation was found in only two babies, both of whom had had umbilical artery catheters removed because of cyanosis of the toes that had resolved itself prior to posterior tibial artery cannulation. Our patients experienced no short-term complications from this procedure.


Visual loss in osteopetrosis.

We present the clinical and electrophysiological findings in three cases of osteopetrosis with visual loss. In all cases the findings on electroretinography suggested diffuse retinal degeneration, despite normal ophthalmoscopic appearance of the retinas. We suggest that retinal degeneration may be a common finding in osteopetrosis and a major cause of visual loss. Patients with osteopetrosis and poor vision should be examined using electrophysiological techniques to detect unsuspected retinal dysfunction.


Symptomatic duodenal duplication cyst in an adult demonstrated by endoscopic retrograde cholangiopancreatography. Case report and literature review.

A patient with a symptomatic duodenal duplication cyst demonstrated by endoscopic retrograde cholangiopancreatography (ERCP) is presented. This lesion usually does not communicate with duodenal lumen but should be added to the list of cystic duodenal lesions demonstrable by ERCP. ERCP preoperatively is helpful to the surgeon in isolating adjacent duct structures but cyst wall histology is mandatory for correct anatomic diagnosis as this lesion has often been confused with Type III choledochal cysts.


Gallstone obstruction of duodenal cap (Bouveret's syndrome) diagnosed by endoscopy.

A patient presenting with signs and symptoms of gastric outlet obstruction and acute oliguric renal failure underwent early endoscopic examination. A large gallstone was seen obstructing the duodenal cap. Bouveret's syndrome and the role of endoscopy in early diagnosis are discussed.


Zollinger-Ellison syndrome unresponsive to cimetidine.

A patient with Zollinger-Ellison syndrome appeared initially to respond to cimetidine with a reduction in gastric acid secretion. Symptoms immediately improved but after three days recurred with increasing severity. Intravenous cimetidine had only a short-lived and partial inhibitory effect on the rate of acid production and because of continuing pain and progressive bleeding from his duodenal ulcer, total gastrectomy was performed. Evidence of the effect of atropine and of oral and intravenous cimetidine is presented. Despite recent optimism, cimetidine is not always adequate treatment for Zollinger-Ellison syndrome.


Huge lipomatous pseudohypertrophy of the pancreas.

A rare case of lipomatous pseudohypertrophy of the pancreas associated with multiple cysts in an adult is presented. Endoscopic retrograde pancreatography showed a long, willow-like main pancreatic duct. Resected body and tail of the pancreas weighed 1,200 gm.


Pancreatic pseudocyst involving the spleen.

A case of pseudocyst of the tail of the pancreas involving the spleen is presented. Diagnosis of splenic involvement by pseudocyst was made by angiography followed by immediate (elective) surgical intervention with distal pancreatectomy and splenectomy without pre- or postoperative complications.


Fused epiploic appendages simulating carcinoma of the left colon.

A 60-year old male with a history of rectal bleeding was operated upon because of the finding of a filling defect on barium enema examination. At operation it was found that the defect was produced by the fusion of two epiploic appendages. Following release of the adhesion the colon regained its normal appearance and postoperative barium enema showed no pathological findings.


The endoscopy corner: reversible ischemic colitis--correlation of colonoscopic and pathologic changes.

Ischemic colitis is a well described complication following distal aortic replacement. The diagnosis is typically made by correlating clinical signs such as the occurrence of abdominal pain and bloody diarrhea with supporting radiographic changes. In this report, the diagnosis of ischemic colitis was confirmed on the basis of colonoscopic and associated histopathological findings. Colonoscopy is a useful technic in establishing the diagnosis of ischemic colitis, especially in patients whose clinical condition makes barium enema not feasible.


The radiology corner: two cases showing the radiographic appearance of Meckel's stones.

The authors describe two cases of Meckel's diverticulum containing radiopaque stones that were diagnosed peroperatively by plain abdominal films and barium small bowel studies. One case of this rare condition was very unusual in that it had extremely symmetric, laminar calcifications on many projections.


Leukemia among Nebraska farmers: a death certificate study.

The risk of leukemia among farmers was studied using records of death certificates from Nebraska, 1957--1974. Comparison of occupation, as recorded on the death certificate, for 1084 leukemia deaths and 2168 deaths from other causes, matched for age at death, year of death, county of residence, race, and sex, revealed an elevated risk of leukemia among farmers (odds ratio = 1.25). The risk was greatest among farmers born after 1900 and dying before age 66 (odds ratio = 1.83). Stratification by county of residence showed a significantly elevated risk for farmers from heavy corn producing counties.


Racial patterns of heart rate in an employed adult population.

This study explored racial patterns of heart rate in a large population of employed Chicagoans: 39,665 adults screened in Chicago firms between late 1967 and early 1973. Of these, 30,876 were white or black adults age 18--64 with complete data, and not on drug therapy for hypertension. Mean heart rates of young black men and women were significantly lower than mean heart rates of young white men and women. This difference was not present for the age groups 35 and older. The difference was present in both smokers and non-smokers; in normotensives and in persons with elevated blood pressure; and could not be explained by differences in relative body weight. The difference persisted after simultaneous adjustment for differences in the mean values of systolic blood pressure, relative weight, serum cholesterol, post-loaded plasma glucose, and number of cigarettes smoked per day.


An investigation of coronary heart disease in families. The Framingham offspring study.

The Framingham Heart Study (FHS) was started in 1948 as a prospective investigation of cardiovascular disease in a cohort of adult men and women. Continuous surveillance of this sample of 5209 subjects has been maintained through biennial physical examinations. In 1971 examinations were begun on the children of the FHS cohort. This study, called the Framingham Offspring Study (FOS), was undertaken to expand upon knowledge of cardiovascular disease, particularly in the area of familial clustering of the disease and its risk factors. This report reviews the sampling design of the FHS and describes the nature of the FOS sample. The FOS families appear to be of typical size and age structure for families with parents born in the late 19th or early 20th century. In addition, there is little evidence that coronary heart disease (CHD) experience and CHD risk factors differ in parents of those who volunteered for this study and the parents of those who did not volunteer.


A comparison of blood pressure, total cholesterol and cigarette smoking in parents in 1950 and their children in 1970.

Blood pressure and serum cholesterol levels as well as cigarette smoking are compared for parents who were examined in the Framingham Heart Study between 1948 and 1950 and their offspring who were studied in the early 1970s in the Framingham Offspring Study. For ages 30-49 years there are modest but significant differences in both systolic and diastolic blood pressure when mothers are compared to daughters, with the average pressures in the daughters being lower. Blood pressure differences in fathers and sons are not as large, and they disappear when families which include hypertensives are eliminated from the analysis. Total cholesterol levels were found to be significantly lower in both daughters and sons, but the difference was not large after adjusting for changes in methodology. The proportion of cigarette smokers was found to be substantially lower in the sons in all age groups, and modest reductions in cigarette smoking were also noted in all but the oldest (age 45--49 years) group of daughters.


Responses to human diploid cell rabies vaccine: neutralizing antibody responses of vaccinees receiving booster doses of human diploid cell rabies vaccine.

Rabies neutralizing antibody levels were determined before and after administration of a booster-dose of Wyeth rabies vaccine (WRV) in persons immunized earlier with either duck embryo vaccine (DEV) or with WRV. Virtually all those receiving an initial 3-dose regimen of WRV (0, 7 and 21--28 days) still had neutralizing antibody one year later, but there was a decline in titer from 10--50 IU per ml at 35 days to about 1--3 IU. Only one-half of those receiving DEV as the primary vaccine had even detectable antibody one year later. All volunteers responded anamnestically to a single WRV booster given 8--12 months after either primary vaccine. Those given WRV initially had much higher antibody levels than those given DEV, but after the WRV booster antibody levels in all vaccinees remained high, even one year later.


The use of correlation and regression in the analysis of family resemblance.

The use of correlation and regression as applied to the analysis of family resemblance is discussed. The application of these statistical techniques to family data is not routine because the number of siblings per family is in general variable. Topics dealt with include estimation of sib-sib (intraclass) correlation, parent-child (interclass) correlation and regression of child on parent. An example is given.


Principal component analysis of four health indicators and construction of a global health index in the aged.

The health status of 1025 urban senior citizens in a Montreal metropolitan area was determined by a questionnaire based on the subjects' view of physical, mental, and general well-being, and of dependence (indicators of Belloc et al., Berkman, Grogono and Woodgate, and Linn). A principal component analysis was made of these health indicators and two factors were retained. The first factor, which can be called a global health index, was used to compare the sexes and the age strata; it was thus found that men (those who survive) are generally healthier than the women, and that subjects from the lower-age strata are healthier than their older counterparts. The second factor is described as opposing physical health and dependence to mental health, the results of which were similar for both sexes, bur differed according to the various age strata compared.


Sickle cell anemia and trait in southern India: further studies.

Population surveys and family studies among 568 members of nine ethnic groups in southern India identified 15 homozygotes for sickle hemoglobin (HbS)who had mild clinical and hematological manifestations with high levels of fetal hemoglobin (mean=20%, range 8-36%) in a heterogeneous red cell distribution. In one family, the heterozygous mother had a hemoglobin pattern consistent with a form of the heterocellular hereditary persistence of fetal hemoglobin. Sickle cell trait was found in 153(27%) of those studied. Chromatographic quantitation of the hemoglobin fractions in these heterozygotes showed a trimodal distribution of the proportion of HB Sexplicable by a genetic model postulating the presence of genotypes with two (-alpha/-alpha), three (-alpha/alpha alpha) and four (alpha alpha/alpha alpha) active alpha-globin genes. Globin synthesis studies in four heterozygotes believed to have two active alpha-globin genes demonstrated an alpha/non-alpha total activity ratio (0.57) consistent with this model.


Heparin-induced thrombocytopenia: association with a platelet aggregating factor and arterial thromboses.

Eleven patients with heparin-induced thrombocytopenia were studied. Thrombocytopenia appeared 3-16 days following the initiation of prophylactic or therapeutic doses of heparin. The mean lowest platelet count recorded was 48,000/mm3. When heparin was stopped, recovery from thrombocytopenia began within 24 hours and was complete by ten days. Two patients developed fatal thromboses, and two others had myocardial infarctions while thrombo-cytopenic. In the serum of seven patients, including three of the four with arterial thrombosis, a heparin-dependent platelet aggregating factor was present. The factor caused release of platelet 14C serotonin but did not lyse platelets. It was present in the globulin fraction of all positive sera, and in one serum studied it was isolated in the IgG/IgA immunoglobulin fraction. The factor was not present in 16 normal sera or in the sera of 15 nonthrombocytopenic patients receiving heparin. Our observations suggest that heparin-induced thrombocytopenia is common and that, in some patients it may be accompanied by severe arterial thrombosis. In vivo platelet aggregation is a possible explanation for the thrombocytopenia and the thrombosis in this disorder.


Marked hypodiploidy in a case of acute undifferentiated leukemia.

A-29-year-old white man with acute undifferentiated leukemia had bone marrow cells with predominantly 42 chromosomes including several rearrangements. Following a brief induced "complete" remission, during which normal chromosomes were observed, bone marrow cells with 42 chromosomes but a different karyotype than before remission were found. Evaluation of that karyotype indicates not only a reduced chromosome count but also a reduced quantity of chromosome material.


Identification and differentiation of surgically correctable hypertension due to primary aldosteronism.

During a protocol study for the evaluation of patients with primary aldosteronism, a variety of diagnostic studies were employed in an attempt to identify patients with primary aldosteronism and to differentiate patients with adrenal adenoma from patients with idiopathic adrenal hyperplasia. In this study, we are able to demonstrate the utility of (1) absent postural increase in plasma aldosterone concentration, (2) adrenal scanning and (3) normalization of blood pressure with spironolactone therapy in identifying patients with primary aldosterone excess who have an adrenal adenoma, surgical removal of which results in eliminating their hypertension.


The significance of exercise-induced Q waves.

The significance of transient exercise-induced Q waves present during treadmill testing was prospectively evaluated and correlated with the findings at cardiac catheterization. Exercise-induced Q waves were present in 14 of 560 patients (2.5 per cent) undergoing treadmill exercise testing. Thirteen patients had Q waves in leads V1 through V3 and one patient had Q waves in leads II, III and aVF. Ten patients underwent cardiac catheterization; six did not have coronary artery disease as determined by angiography. Two patients had a documented anterior myocardial infarction and did not undergo cardiac catheterization. Exercise myocardial perfusion imaging was performed in 10 patients. Six patients without coronary artery disease had no evidence of exercise perfusion defects. In the four patients with coronary artery disease, three patients had an abnormal resting perfusion study without change with exercise and one patient had a new exercise myocardial perfusion defect. We conclude that exercise-induced transient Q waves are not diagnostic of underlying coronary disease. In patients without coronary artery disease the mechanism of exercise-induced Q waves is as yet unclear. In patients with coronary artery disease, the mechanism may also be undefined or secondary to myocardial ischemia.


Cardiac abnormalities in myotonic dystrophy. Electrophysiologic and histopathologic studies.

Eight young adult male patients with myotonic dystrophy, mean age 26 years, underwent 24-hour Holter electrocardiographic monitoring and intracardiac electrophysiologic study. Right ventricular endomyocardial biopsies were performed at the end of the electrophysiologic study in five of them. The atrial to His[A-H] interval was 155 msec in one case and less than or equal to 55 msec in all patients. Twenty-four hour Holter electrocardiographic monitoring demonstrated more than 4 premature ventricular contractions per minute in two patients and marked cyclical sinus arrhythmia during sleep in two others. Electron microscopic analysis of the endomyocardial biopsy specimens disclosed no prominent sarcoplasmic reticulum abnormalities but prominent I bands compared to previously obtained controls. Myofibrillar degeneration was seen in all cases and was associated with abnormal mitochondria in two. Cardiac abnormalities can be detected very early in the evolution of myotonic dystrophy, even prior to the onset of cardiac symptoms. The reported abnormalities appear closely related to the pathologic process affecting other skeletal muscles.


Thrombocytosis, coronary thrombosis and acute myocardial infarction.

Clinical and morphologic findings are described in a 22 year old man with prolonged thromboyctosis, and coronary and splenic arterial thrombi causing myocardial and splenic infarcts. The absence of preexistent extensive coronary atherosclerosis, the presence of thrombus in more than one epicardial artery and in multiple intramural coronary arteries, the presence of arterial thrombosis in a noncoronary artery (splenic) and the absence of another apparent cause of the arterial thromboses are evidences that the intraarterial clotting in this patient was related to the severe thrombocytosis. A reveiw of the reported cases of vascular occlusion associated with thrombocytosis indicates that thrombi have infrequently been confirmed as the mechanism of the vascular occlusion. Although the frequency of vascular thrombi in patients with thrombocytosis has not been established, it is clear that vascular thrombosis can be a consequence of thrombocytosis and, as demonstrated by the present patient, that the coronary artery may be the site of the vascular occlusion, a heretofore unconfirmed event.


Intermittent Cushing's disease.

Described here is a young woman with intermittent Cushing's disease associated with psychotic disturbance. On five occasions, over a period of four years, she became severely depressed and had acne, amenorrhea, hirsuties and moon facies. On each of the first four occasions the symptoms lasted from two to three months and disappeared spontaneously. Biochemical investigations, including plasma ACTH estimations during the last two episodes, indicated that the adrenocortical overactivity was pituitary-dependent. During the fifth relapse the patient experienced a very severe, depressive psychosis, necessitating bilateral adrenalectomy, which resulted in complete remission.


Idiopathic, sustained, inappropriate secretion of ADH with associated hypertension and thirst.

A 15 year old girl presented with excessive thirst and hypertension (170/110 mm Hg). Biochemical investigations revealed serum sodium 118 meq/liter, serum osmolality 238 mosmol/liter, urine sodium 90 meq/liter, urine osmolality 700 mosmol/liter, persistenly elevated serum antidiuretic hormone (ADH) levels (5.8 to 11.9 pg/ml) and no obvious cause for the hypertension. The hypertension is, at least in part, volume-related, diminishing with fluid restriction. Features of gross water intoxication (e.g., confusion, coma) have not occurred. The etiology of the inappropriate secretion of ADH is not obvious but is not thought to be due to "resetting of osmoreceptors" as evidenced by failure to maximally dilute urine following a water load test and persistently elevated serum ADH levels. A similar patient described by Epstein and associates in 1962 is presently well with persistent features of inappropriate secretion of ADH.


Concurrent hypersecretion of aldosterone and cortisol from the adrenal cortical adenoma.

Hypertension, hypokalemia, suppressed plasma renin activity and increased plasma aldosterone were found in a middle-aged woman. Following removal of the tumor in the left adrenal gland these abnormalities disappeared. Concurrently, however, the plasma cortisol level did not show normal diurnal change, although the value at 6 A.M. was within the normal range. Administration of 2 mg dexamethasone failed to depress the plasma cortisol level and urinary 17-OHCS concentrations. Postoperatively, plasma cortisol and urinary 17-OHCS were below normal. Histologic examination of the tumor indicated the presence of two types of adenoma cells; one was a large watery clear cell with rich lipid and possibly with aldosterone secretion and the other was an acidophilic cell with poor lipid and possibly with cortisol secretion. It is suggested that, in addition to oversecretion of aldosterone, the tumor autonomously secreted cortisol, although the amount of cortisol secreted was not large enough to produce typical Cushing's syndrome.


Spontaneous remission of Cushing's disease. A case report and review of the literature.

A 70 year old man whose severe Cushing's disease remitted spontaneously is described. Medical therapy was instituted as a temporary measure prior to planned adrenalectomy. The patient showed dramatic improvement during medication and has remained well for two and a half years following the discontinuation of drug therapy. The literature is reviewed for other cases of spontaneous resolution of Cushing's.


Hypertension and aldosterone overproduction without renin suppression in Cushing's syndrome from an adrenal adenoma.

Adrenal steroids and compenents of the renin-angiotensin system were measured before and after adrenalectomy in a woman with Cushing's syndrome and hypertension from a functioning adrenocortical adenoma. Aldosterone, deoxycorticosterone and cortisol were produced in excess by the adenoma, and were measured in tumor tissue. High plasma renin substrate concentrations, and normal basal and furosemide-stimulated plasma renin activities and plasma renin concentrations which were present before surgery, decreased after adrenalectomy, and the hypertension diminished. The inappropriately normal levels of renin and potassium in this patient, despite autonomous aldosterone overproduction, suggest an ineffective mineralocorticoid action of aldosterone, possibly from interaction with her other adenoma-produced steroids. The decrease in components of the renin-angiotensin system suggests a partial renin-dependence of her hypertension.


Immunologically-mediated acute renal failure of nonglomerular origin in the course of systemic lupus erythematosus [SLE]. Report of two cases.

Acute anuric renal failure was observed in two patients with systemic lupus erythematosus (SLE) during the clinical and serologic active phase of the disease. Renal biopsies, performed during the acute episodes, showed only mild and focal mesangial cell proliferation without deposits. In contrast, tubulointerstitial lesions were predominant. Intense granular immune deposits along the tubular basement membrane, or immunofluorescence examination, were suggestive of immune complex deposition. One of these patients had severe high blood pressure and vascular lesions likely induced by immune complexes. In both, renal function was recovered. Immunologically-mediated tubular and vascular lesions in the course of SLE are discussed.


Immunodeficiency, malabsorption and secretory diarrhea. A new syndrome.

Described here is a patient with severe watery diarrhea associated with common variable immunodeficiency. Malabsorption for fat, bile acids, vitamin B12 and xylose was demonstrated, but the patient failed to respond to all the usual therapeutic maneuvers. The diarrhea responded only to high dose steroid therapy. Intestinal perfusion studies showed a hitherto undescribed, presumably acquired, glucose-stimulated water, sodium and chloride secretion in the jejunum and ileum, whereas normal fluid and electrolyte transport occurred from bicarbonate and mannitol solutions. Glucose absorption itself was normal and no hormonal, morphologic or biochemical defect was demonstrated to account for the phenomenon. The patient was also interesting when compared with other patients with common variable immunodeficiency in having normal plasma cells in the intestinal mucosa and an extensive family involvement.


Storage of microtiter plates for antimicrobial susceptibility tests.

Microdilution susceptibility tests are being performed routinely and in increasing numbers in many clinical laboratories. Microtiter plates for these assays are usually prepared in large batches and stored frozen until needed. Studies were performed to investigate the stability at -20C and at -70C of ampicillin, carbenicillin, ticarcillin, gentamicin, tobramycin, amikacin, chloramphenicol, and cephalothin, using Enterobacter aerogenes, Proteus mirabilis, Proteus vulgaris, Escherichia coli, Pseudomonas aeruginosa, and Klebsiella as test organisms. The stability at -20C and -70C of clindamycin, vancomycin, cephalothin, cefazolin, oxacillin, methicillin, nafcillin, and penicillin was analyzed using Staphylococcus eureus, Staphylococcus epidermidis, Enterococcus, and alpha Streptococcus as the test organisms. No significant deterioration of any of the antibiotics was noted after ten weeks of storage at -70C, as detected by minimum inhibitory concentration determinations. No significant differences were noted at -20C for clindamycin, chloramphenicol, vancomycin, cefazolin, cephalothin, gentamicin, tobramycin, and amikacin. By ten weeks' storage at -20C, significant deterioration of carbenicillin, ticarcillin, ampicillin, penicillin, methicillin, oxacillin, and nafcillin was observed.


The use of examination content guidelines in teaching clinical microbiology.

The concept of using examination content guidelines as sources for curriculum content is presented, using the ASCP Board of Registry grids and a task list developed for HEW as a basis for proficiency examinations. The grid structure is related to Bloom's taxonomic levels, and a brief explanation of each level is included. A comparison of the grid structure and task list format is made, and specific examples of the use of each are offered.


A ladder curriculum in clinical microbiology.

A continuum of four microbiology courses for medical technology majors has been developed by the Medical Laboratory Science Program at Northeastern University. Using a system approach to curriculum design, the academic and clinical faculty identified career-entry capabilities, delineated appropriate subject content, and developed an instructional system which placed individual topics into one of four courses in the ladder curriculum: a basic, second-year, university-based clinical microbiology course stressing microbial technique and common organism identification; third-year microbiology and cellular physiology courses developing theoretical aspects; a fourth-year, hospital-based clinical microbiology rotation emphasizing isolation and identification techniques for significant pathogens; and a fourth-year, university-based, didactic course covering host defense-organism virulence interactions, infectious disease principles, and new techniques and unusual isolates as reported in the recent journal literature. Based on four years of experience with this system and in light of the publication of the 1978 American Society for Medical Technology (ASMT) Competency Statements, the Northeastern Medical Laboratory Science Program faculty is currently reexamining the continuum to insure completeness and appropriateness of overall subject content, to provide reinforcement, and to remove unnecessary duplication among the courses in the curriculum.


C3b receptors in normal human tissues.

Normal human kidney, lung, liver, heart, skin, thymus, spleen, lymph node, pancreas, and choroid plexus were reacted with a C3b-coated particle (fluoresceinated Salmonella typhi) to determine if these tissues contained C3b receptor cells. Clusters of these cells were identified in the spleen, lymph nodes, and in the renal glomeruli. All other studied tissues demonstrated a minimal homogeneous deposition of the indicator bacteria throughout the entire aspect of the tissue. Deposition of the indicator bacteria on the tissues was abrogated when the bacteria were prepared with heat inactivated serum as a source of complement.


A computer assisted test assembly system for medical technology examinations.

A descriptive report on the establishment and implementation of a computer assisted test assembly (CATA) system at the University of Iowa Medical Technology Program is presented. This system is an alternative approach to the production of paper and pencil examinations that may be considered for use in other medical technology programs. Access to the system is designed, through coding, to correlate with specific instructional objectives in a variety of subject areas. The CATA system has capabilities for mass production of examinations, correction of examinations, and production of accumulative item analyses. Use of this computerized system has produced savings in terms of money, faculty time, and clerical assistance. Primarily, however, it has served to effectively relate instructional objectives in an educational program to the evaluation process.


Setting up proper illumination on your microscope.

This article discusses the 13-step Köhler method for microscope illumination.


The Summitt syndrome: observations on a third case.

A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X-linkage cannot be excluded.


Autosomal dominant inheritance of scalp defects with ectrodactyly.

Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.


Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features.

In a routine cytogenetic investigation of the outpatients of a hospital for the mentally retarded, a 26-year-old women with a presumptive interstitial deletion of the short arm of one of the X chromosomes was found. The same aberration was found in her phenotypically normal mother and in one of her four sisters, all phenotypically normal. By GTG- and QFQ-banding methods, the deletion was interpreted to involve the entire band Xp21 and adjacent parts of p11 and p22. The karyotype is written 46,X,del(X)(pter leads to p22::p11 leads to qter). By autoradiography and Bud R acridine orange technique, the deleted X was the late replicating one in all three affected persons. The deletion apparently causes shortness of stature but no other phenotypic symptoms or signs. Hence a gene or genes controlling stature is located in band Xp21 or regions immediately adjacent to this band. Since the absence of this region does not cause streak gonads, it does not contain genes controlling the formation of the ovaries. This appears to be the first example of a heritable chromosome deletion compatible with a normal phenotype and reproduction.


The G syndrome: a case report.

A case of the G syndrome is reported in a baby boy who had an unusual facies (prominent forehead, telecanthus, posteriorly rotated ears, and anteverted nostrils), laryngeal cleft, hypospadias, cryptorchidism, and psychomotor development delay, possibly secondary to birth asphyxia and numerous medical and surgical complications. The mother had a similar facies.


Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.

We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes.and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil-red-O positive material but is Oil-red-O negative after extraction; it has the typical reactions of melanin withe the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium. This mutation principally affects the neuroectoderm, but also the mesoderm.


Finite sample properties of maximum likelihood estimates of the recombination fraction in double backcross matings in man.

The properties of the maximum likelihood estimator (MLE) of the recombination fraction, theta, based on various numbers and sizes of sibships derived from double backcross matings are exactly explored where the coupling phases are presumed equally likely (which for two-generation data is generally the case). The results indicate that for large values of theta the expectations are severely biased. The bias, variance, and measures of normality of the MLE behave erratically for small sizes and numbers of sibships. The implications for chromosome mapping are discussed.


Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.


Genetic counseling: provision and reception of information.

To explore verbal communication between family and counselor, transcripts of 30 tape-recorded or observed genetic counseling sessions are analyzed qualitatively. In half the cases, available data did not allow counselors to give parents a single estimate of the recurrence rate. Moreover, limits on the language available for communicating small probabilities made common the use of nonnumerical statements about a family's chance of having an abnormal child. Counselees processed the factual information they were given, most commonly translating recurrence rates in ways that emphasized the uncertainties associated with them. They tended to view these rates in binary form and requested guidelines for their behavior, indicating uncertainty about how to proceed with reproductive decision-making. The findings suggest that strategies for processing information are an important element influencing parental perspectives on and approaches to the problems created by being at-risk and to possible courses of action.


The Johanson-Blizzard syndrome: case report and autopsy findings.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.


Increased aneuploidy in Alzheimer disease.

The purpose of this study was to determine if cytogenetic changes are present in Alzheimer disease, one of the presenile dementias. The chromosomes of three groups of people were studied: 1) sporadic cases of Alzheimer disease (eight cases), 2) familial cases of Alzheimer disease with affected individuals in at least two generations of their families (five cases), and 3) currently unaffected siblings of the affected individuals in these families (nine cases). One hundred cells per individual were examined using GTG banding to allow chromosome identification. A statistically significant increase in aneuploidy was found in five of eight patients in group 1 (P less than 0.05) and in each of five patients in group 2 (P less than 0.001) when compared with the rate of aneuploidy in age- and sex-matched controls. In addition, two individuals in group 3 exhibited a significant increase in aneuploidy over the control group, raising the possibility that finding increased aneuploidy may allow one to anticipate the clinical expression of the disease state.


Chylous ascites in sibs from a consanguineous marriage.

We report a brother and sister with congenital chylous ascites. Parents were first cousins, and autosomal recessive inheritance may be the cause of the condition in these sibs.


H-Y antigen in 46,XY pure testicular dysgenesis.

Clinical, cytogenetic, pathologic, and histocompatibility-Y (H-Y) antigen studies were performed on a phenotype female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpinog-gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F-body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46,XY chromosome constitution (Q-banding). The data were consistent with a diagnosis of 46,XY pure testicular dysgenesis. Positive results for H-Y antigen were found in this case.


Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.


An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13.

We report the anatomic variations found in four additional cases of trisomy 13. Data from these and four previous cases [Colacino and Pettersen, 1978] are utilized to define a muscle phenotype. Previously unreported defects include the bilateral presence of cervical ribs and the bilateral absence of 12th thoracic ribs in five of the eight cases. One unusual developmental defect of the great vessels is also described. The findings suggest that a definitive diagnosis of trisomy 13 can be made on the basis of six muscle variations.


The hand profile on de Lange syndrome: diagnostic criteria.

The hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non-de Lange). Based on a Poznanski metacarpophalangeal profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second and fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non-de Lange group. All 11 non-de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or more.


Duplication 6q syndrome.

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.


Trisomy 14 mosaicism: case report and review.

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.