Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, autosomal dominant, and devastating disease. If untreated, the disease fatal within 4–15 years from onset. Thus, diagnosis in early stages of ATTRv crucial to start treatment prevent or delay progression. However, symptomatic TTR gene mutation carriers may be challenging. Purpose We aimed identifying indexes cardiac and...

Talking about thyroid carcinomas leaves a fairly wide slope, in which it should be considered not only the variants and their clinical frequency, but mutant genetic finding that gives preamble to malignancy, its variability, histological as well prognosis. It is important note most frequent carcinoma population papillary, with an index greater than 80% of all cases, being rare pediatrics. The p...

fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...

Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...