Goitre Goitre A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre is associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin "gutturia", meaning throat. Most goitres are of a benign nature. A goitre, associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often
Cernunnos deficiency Cernunnos deficiency Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner Management for this condition is antiviral prophylaxis and antibiotic treatment The sign and symptoms of this condition on an affected individual are as follows: In terms of genetics the condition, Cernunnos deficiency is due to a mutation in the NHEJ1 gene, it has a cytogenetic location of 2q35, while its molecular location is 219,075,324 to 219,160,865 The pathophysiology of Cernunnos deficiency begins with normal function of "Non-homologous end-joining factor 1" gene. NHEJ1 encodes