A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report 29 Apr 4:00 PM (yesterday, 4:00 pm)
Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the KMT2D or KDM6A genes. It is characterized by distinctive dysmorphic facial features, intellectual disability, and a...
Disseminated tuberculosis in an immunocompetent healthy young male with nonspecific symptoms: challenges toward diagnosis—a case report 28 Apr 4:00 PM (2 days ago)
Disseminated tuberculosis, characterized by spread of Mycobacterium tuberculosis to multiple noncontiguous sites, is rare in immunocompetent individuals. Diagnosing disseminated tuberculosis is challenging due to...
Juxtaglomerular cell tumor: a case report 28 Apr 4:00 PM (2 days ago)
The tumor produces an excessive amount of renin resulting in secondary hyperaldosteronism, thereby causing hypertension with hypokalemia. The authors describe a case of reninoma in a young man, who presented w...
Early experience with renal autotransplant for renal artery stenosis in a 6-year-old patient with neurofibromatosis type 1: a case report 28 Apr 4:00 PM (2 days ago)
Renal artery stenosis due to neurofibromatosis type 1 is a known important source of secondary renovascular hypertension in pediatric patients. There are no guidelines on the management of renal artery stenosi...
Combined deficiency of factor V and factor VIII in a pediatric patient: a case report 27 Apr 4:00 PM (3 days ago)
Combined deficiency of factors V and VIII is a rare autosomal recessive disorder associated with an increased risk of bleeding. We present an unusual case of a 7-year-old Moroccan child with no history of cons...