abstract men-i is a rare genetic disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary gland, and pancreatic islet cells. we present a case of men-i syndrome diagnosed using predominantly nuclear medicine imaging followed by radionuclide therapy, thus emphasizing the role of nuclear imaging in diagnosing and treating men-i.

Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood onset disorder that frequently persists into adulthood and is associated with the development of cognitive and functional deficits and comorbid disorders. The disorder tends to run in families and numerous twin studies find that ADHD is highly heritable, indicating the predominance of genetic influences in the aetiology of th...

BACKGROUND Recent analyses of trait-disorder overlap suggest that psychiatric dimensions may relate to distinct sets of genes that exert maximum influence during different periods of development. This includes analyses of social communication difficulties that share, depending on their developmental stage, stronger genetic links with either autism spectrum disorder or schizophrenia. We develope...

autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...

Tourette syndrome is a childhood neuropsychiatric disorder, which presents with disruptive motor and vocal tics. The disease also has a high comorbidity with obsessive-compulsive disorder and attention deficit hyperactivity disorder, which may further increase the distress experienced by patients. Current treatments act with varying efficacies in alleviating symptoms, as the underlying biology ...

Abstract Sandhoff disease (SD) is an ultra-rare lysosomal storage disorder (LSD), which affects ~ 1/1000, 000 live birth. SD caused by genetic deficiency of beta (β) Hexosaminidase and resulting excess central nervous system (CNS) synthesis GM2 ganglioside (GM2) its impact on neuron death. The exact mechanisms underlying such GM2-driven death are unknown in SD. Glucosylceramide (GC) induced com...