Abdulsalam Abu-Libdeh

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OBJECTIVE Congenital hyperinsulinism, usually associated with severe neonatal hypoglycemia, may progress to diabetes, typically during the 4th decade of life in nonpancreatectomized patients. We aimed to genotype the ATP-sensitive K(+) channel in a 10.5-year-old girl presenting with overt diabetes following hyperinsulinism in infancy. RESEARCH DESIGN AND(More)
BACKGROUND Familial glucocorticoid deficiency (FGD) reflects specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Most cases are caused by mutations encoding ACTH-receptor components (MC2R, MRAP) or the general steroidogenesis protein (StAR). Recently, nicotinamide nucleotide transhydrogenase (NNT)(More)
BACKGROUND Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS have significant medical problems and require life-long medical follow-up. OBJECTIVES To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics. METHODS The study was conducted at a(More)
BACKGROUND AND AIMS Untreated renal tubular acidosis (RTA) can result in severe complications. We reviewed the clinical features of patients with mutations in two genes causing RTA and evaluated their developmental expression assuming that timing, symptom severity and complications may be related to its occurrence. METHODS Clinical data from 16 patients(More)
BACKGROUND Generalized verrucosis (GV) is a chronic and progressive cutaneous human papillomavirus (HPV) infection resulting in multiple warts and associated with acquired or genetic immune defects. We identified a consanguineous Arab family manifesting GV and recurrent bacterial and viral infections, in association with inflammatory bowel disease (IBD). (More)
Nephrogenic diabetes insipidus (NDI) is a clinical disorder characterized by a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). X-linked NDI is the most common inherited form of NDI and is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R).1,2 Mutations of(More)
CONTEXT Type 2 Wolfram syndrome (T2-WFS) is a neuronal and β-cell degenerative disorder caused by mutations in the CISD2 gene. The mechanisms underlying β-cell dysfunction in T2-WFS are not known, and treatments that effectively improve diabetes in this context are lacking. OBJECTIVE Unraveling the mechanisms of β-cell dysfunction in T2-WFS and the(More)
Congenital hypopituitarism is a rare condition associated with possible serious complications and long-term neurological sequelae, if not promptly recognized and treated.1 Neonates with congenital hypopituitarism may present with or without associated developmental defects, such as ocular, midline, and genital abnormalities. They may also present with(More)
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