Results 121 to 130 of about 47,447 (260)
ABSTRACT The clinical features of severe hypothyroidism may overlap with those of Down syndrome, delaying diagnosis until complications such as myxedema crisis and massive pericardial effusion develop. Regular thyroid function screening is essential, and hypothyroidism‐associated massive pericardial effusion can often be treated conservatively with ...
Bivek Mishra +6 more
wiley +1 more source
Laparoscopic cholecystectomy (LC) is preferred in the treatment of symptomatic cholecystolithiasis. Gallstone spillage is not uncommon, and there have been reports of associated complications.
Kor Woi Tiang +3 more
doaj +1 more source
ABSTRACT Acute acalculous cholecystitis (AAC) is not confined to the critically ill and may behave like calculous disease. A 65‐year‐old hypertensive man with localized, stone‐free cholecystitis deteriorated on hospital Day 4 with peritonism, acidosis, and acute kidney injury.
Rami Y. Adam +5 more
wiley +1 more source
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández +10 more
wiley +1 more source
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) is a rare, progressive cholangiopathy for which diagnosis remains challenging because of the absence of disease‐specific markers and the presence of secondary causes of sclerosing cholangitis (SSC) that closely mimic its clinical presentation. Diagnostic uncertainty can delay appropriate
Miki Scaravaglio +20 more
wiley +1 more source
ABSTRACT Although rare, ruptured mature cystic teratoma (MCT) can cause chronic granulomatous peritonitis that mimics peritoneal carcinomatosis. In patients with a history of cystectomy for MCT, careful clinicoradiologic and histopathologic correlation is essential to avoid misdiagnosis and unnecessary aggressive treatment.
Zohre Sadeghian +6 more
wiley +1 more source
ABSTRACT Low phospholipid‐associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother–son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9)
Hui‐Ming Yang, Jun Liu, Zheng Zhang
wiley +1 more source
ABSTRACT Dorsal pancreatic agenesis (DPA) is a rare congenital disorder resulting from failure of development of the dorsal pancreatic bud. Complete DPA implies absence of the pancreatic neck, body, and tail and can be associated with both diabetes mellitus and pancreatitis. The patient was an 18‐year‐old man admitted with a history of epigastric pain,
Mugheesa Rab +5 more
wiley +1 more source

