Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
Central Adrenal Insufficiency Developing After Right Partial Nephrectomy Involving Ectopic Adrenocortical Adenoma Mimicking Right Renal Carcinoma and a Retrospective Diagnosis of Adrenal Cushing's Syndrome: A Case Report. [PDF]
Arinami K +8 more
europepmc +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Impact of acromegaly subtypes on survival: results from a large multicenter cohort. [PDF]
Cuevas-Ramos D +7 more
europepmc +1 more source
Quantitative Analysis of Cytologic Features: Application to Mucoepidermoid Carcinoma
ABSTRACT Introduction Cytologic diagnosis relies on recognition of morphologic features, yet the diagnostic value of individual cytologic features or their combinations is rarely quantified. In this study, we apply a quantitative cytologic feature analysis (QCFA) approach that treats each cytologic feature as a diagnostic test with measurable ...
John Effat Bacilious Diks +3 more
wiley +1 more source
Pseudoaneurysmal bone cyst secondary to primary hyperparathyroidism mimicking early infection following hip arthroplasty: A case report. [PDF]
Wurm LM +4 more
europepmc +1 more source
Pituitary Tumour Apoplexy as Cause of Death of Simonetta Vespucci, the Venus by Botticelli
A reassessment of Simonetta Vespucci, muse of Sandro Botticelli, attributes her long‐mysterious death to a pituitary adenoma. Clinical reinterpretation of historical accounts suggests tumour expansion led to sellar destruction, severe haemorrhage, and pulmonary complications, offering a coherent medical explanation for her sudden death at twenty‐three.
Domiziana Nardelli +3 more
wiley +1 more source
Parathyroid carcinoma co-occurring with parathyroid adenoma and papillary thyroid carcinoma: a rare case report with comprehensive literature review. [PDF]
Liu J, Li J, Fu Y.
europepmc +1 more source
Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley +1 more source

