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12.07.2015, admin
Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region.
Although this inherited disease occurs with a scarcely detectable frequency-only 184 cases have been reported worldwide since the syndrome was recognized-scientists have longed to understand how the underlying genetic defect causes the numerous cancers that plague its sufferers and causes them to die, on average, before the age of 21. Now, researchers from the New York Blood Center report that Bloom's syndrome arises from mutations in a gene, called blm, that is essential to the process by which chromosomes copy themselves. Bloom's syndrome was first described in 1954 by dermatologist David Bloom, who noted a characteristic set of manifestations-normal body proportions but very short stature, a sun-sensitive rash on the face reminiscent of lupus, and a small, narrow head.
Bloom's syndrome is a recessive genetic disorder, so only a person who inherits a mutated copy of the gene from each parent suffers the disease.
By studying the DNA of Bloom's patients who were born to first cousins, German determined that the blm gene is on chromosome 15. Warren also notes that researchers could study carriers of blm to see if they are susceptible to more cancers than the general population. German now plans to study how correctly functioning blm helps the chromosomes remain stable.
SEM image showing attachment and biofilm formation by Pseudomonas aeruginosa cells on the surface of polycarbonate plastic. Scanning electron micrographs of S.aureus showing biofilm of coccoid cells blanked by extracellular polymer matrix. Scanning electron microscopy (SEM) image showing attachment and initiation of biofilm formation by S.aureus. Scanning electron microscopy (SEM) image showing attachment and initiation of biofilm formation by S.epidermidis. Biofilms have been found to be involved in a wide variety of microbial infections in the body, by one estimate 80% of all infections. Although the symptoms can vary most people with DiGeorge syndrome have some degree of physical abnormalities like cleft lips, suppression of their immune system, and heart defects.
Problems with their palate like having a gap in the roof of their mouth called a cleft palate.
Particular facial features like eyes that are wide-set, in their upper lip there is a narrow groove, and ears that are low set. A child with DiGeorge syndrome may also be shorter in stature, have vision problems, hearing disorders, kidneys that are defective, and behavioral problems.
It is a genetic medical condition that results for the abnormality or deletion of the chromosome twenty-two. If the physician suspects that the child has DiGeorge syndrome they will usually talk with team specialists to confirm their diagnosis. There is no cure for DiGeorge syndrome at this time and treatments that are used are usually aimed at preventing complications from happening and managing the abnormal symptoms associated with this syndrome. If the infant has thymic functional disorder they may be given vaccines to help over time as they grow to get their immune system to be stronger. For hypoparathyroidism they may need to have a diet that is low phosphorus along with taking calcium and vitamin D supplements. With ongoing mental health services and medical care most of the people diagnosed with DiGeorge syndrome are able to have a normal life expectancy along with being able to have some degree of being independent. The prognosis for people with DiGeorge syndrome varies and depends on the degree of involvement and nature of different organs.

There was a collaborative study done on over five hundred patients in Europe that had DiGeorge syndrome. The health information provided on this web site is for educational purposes only and is not to be used as a substitute for medical advice, diagnosis or treatment. Wastewater ponds, residential ponds, small lakes, drinking water reservoirs — all are susceptible to upstream nutrients being washed into the water, resulting in algae blooms and making them unfit for use.  And when water becomes especially precious, as in times of drought, keeping these fresh water resources clean is of the utmost importance. SludgeHammer was asked to intervene at a CAFO site in Northern California.  The farm, like the rest of the state, was suffering through a years-long drought. Trouble started as the weather warmed and upstream livestock grazing caused nutrients to flow into the catchment pond.  A dense algae bloom began to appear, making the water unusable for livestock. USU Tree Fruit IPM Pest Advisories provide nearly weekly updates on current insect and disease occurrences, biology, and treatment recommendations for Utah. To subscribe to this advisory (link to this newsletter sent to your email inbox), click here.
The most serious characteristics of this condition are a predisposition to cancer and infections. From as early as childhood, cancers of all kinds strike repeatedly before stealing the victims' drastically shortened lives. Their finding sheds light not only on this mysterious and obscure disorder but also on the generation of cancers through accumulated mutations.
Though the mutation is vanishingly rare, it is somewhat more common among people of Ashkenazi Jewish descent. Bloom's patients have chromosomes-the paired DNA structures in a cell's nucleus-with an inordinate number of breaks. But, unlike other cancer syndromes that promote a specific type of cancer, Bloom's syndrome increases the occurrence of "the generality of cancers," says German. Warren of Emory University School of Medicine in Atlanta agrees that the finding may have implications beyond Bloom's patients. These adherent cells are frequently embedded within a self-produced matrix of extracellular polymeric substance (EPS). The microbial cells growing in a biofilm are physiologically distinct from planktonic cells of the same organism, which, by contrast, are single-cells that may float or swim in a liquid medium. Infectious processes in which biofilms have been implicated include common problems such as urinary tract infections, catheter infections, middle-ear infections, formation of dental plaque, gingivitis, coating contact lenses, and less common but more lethal processes such as endocarditis, infections in cystic fibrosis, and infections of permanent indwelling devices such as joint prostheses and heart valves. Some of the symptoms may be apparent when the baby is born while for others the symptoms may not show up until early childhood or later in infancy. They will also use blood screenings and genetic test to look for levels of white bloods cells that are abnormally low and a deletion of chromosome twenty-two.
Treatment can include medical management of their immune system for their entire life and surgery to correct any defects, especially in their heart. When their parathyroid gland becomes stronger they may not need this type of diet or supplement any longer. Unfortunately according to statistics it shows twenty-two percent of those who have DiGeorge syndrome will die within the first twelve months of their life.
The reason that many die in infancy is because of the combination of having a severe immune deficiency and congenital heart defect that is severe. There were eight percent of them that had died with more than fifty percent dying during the first thirty days of life but the majority of deaths happened within six months after being born.
The operation’s fresh water came from on-site wells, supplemented by a 30-acre feet rain catchment pond. Three weeks after being placed in the pond, the PondBot’s bacterial Blend™ consumed the animal waste nutrients and starved out the algae, causing it to collapse.  The result was clear, clean, fresh pond drinking water, ready for livestock in the middle of a drought.

Intelligence is usually not affected in this disorder, although mild mental retardation has been seen in some cases.
As a result, every time a cell divides, its DNA gets exchanged much more readily between chromosomes of a pair. Ellis and Joanna Groden, who is now at the University of Cincinnati College of Medicine, report in the Nov.
Which genes have been affected and the size of the deletion is what causes the wide array of symptoms.
If there are heart defects they can use a variety of imaging tests like CAT scans or x-rays to see how severe the defects are.
If the infant has a severe immunodeficiency that is present with thymic aplasia will usually die from sepsis.
Of the ninety-two percent who did survive sixty-two percent of them were normal developmentally or just had learning problems that were mild. Management was concerned that if the drought persisted, it would draw down and deplete its ground water. Furthermore, once the algae had been eliminated, the pond became a more balanced ecosystem with a reinvigorated habitat of plants and fish, amphibian, and insect activity. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. 17 Cell, Bloom's syndrome results from mutations in the gene needed to produce an enzyme classified as a DNA helicase. Although most of the time DiGeorge syndrome is caused spontaneously because of a random genetic defect it can be possible for the parent who is a carrier of the malformed chromosome twenty-two to pass the genetic condition to their children.
Because it is a medical condition that can be inherited the physician will have the parents to have diagnostic testing to see if either or both have any defects in their chromosome twenty-two.
If there are any heart defects that could cause cardiac arrest they may have to do emergency surgery.
Of the eight percent that died all except one their death was the result of congenital heart disease. Consequently, they needed to insure all fresh water sources were available for use, including the rainwater catchment pond. Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome. The enzyme helps uncoil double-stranded DNA and appears to be essential for maintaining chromosome stability. The genes that are found in chromosome twenty-two promote the development of the parathyroid and thyroid glands and if the person has DiGeorge syndrome it can result in defective or absent glands. If there are any facial deformities they may have to do several surgeries throughout childhood. The disease is believed to be caused by defective DNA repair and it is sometimes classified as a "segmental progeria" ("accelerated aging" disease. If the thyroid is not functioning as it should the physician can prescribe hormonal supplements. These T-cells are essential for your immune system to function which is why they would have immune system problems.

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