Results 241 to 250 of about 158,214 (317)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
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

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1591-1600, July 2026.
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]

open access: yesJ Endocr Soc
Cuevas-Ramos D   +7 more
europepmc   +1 more source

Quantitative Analysis of Cytologic Features: Application to Mucoepidermoid Carcinoma

open access: yesDiagnostic Cytopathology, Volume 54, Issue 7, Page 519-527, July 2026.
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

Bronchial adenoma

open access: yesJournal of British Surgery, 1957
openaire   +2 more sources

Pituitary Tumour Apoplexy as Cause of Death of Simonetta Vespucci, the Venus by Botticelli

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.
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

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

open access: yesMass Spectrometry Reviews, Volume 45, Issue 4, Page 599-623, July/August 2026.
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

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