Results 71 to 80 of about 5,711 (254)

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +2 more sources

Glucagonoma and Glucagonoma Syndrome: An Updated Review

Clinical Endocrinology, Volume 103, Issue 4, Page 417-426, October 2025.
ABSTRACT Background Glucagonoma is a rare well‐differentiated slowly proliferating pancreatic neuroendocrine tumour, characterized by several manifestations including necrolytic migratory erythema, weight loss, diabetes and anaemia. Aim The purpose of the current review was to acknowledge literature about this rare tumour discerning the clinical ...
Sofia Anelli, Rossella Mazzilli, Virginia Zamponi, Beatrice Giorgini, Bianca Golisano, Camilla Mancini, Flaminia Russo, Francesco Panzuto, Antongiulio Faggiano   +8 more
wiley   +1 more source

From Eye Care to Hair Growth: Bimatoprost

Pharmaceuticals
Background: Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond.
Marco Zeppieri, Caterina Gagliano, Leopoldo Spadea, Carlo Salati, Ekele Caleb Chukwuyem, Ehimare Samuel Enaholo, Fabiana D’Esposito, Mutali Musa   +7 more
doaj   +1 more source

Proliferative and neoplastic aural pinna masses in a collection of African giant pouched rats (Cricetomys ansorgei)

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract This case series describes aural lesions occurring in five African giant pouched rats (Cricetomys ansorgei) residing at a single zoological institution in southern California. Age of onset ranged from 3 to 7 years. Lesions occurred as single or multiple masses on one or both ears. A single case also developed a nasal mass.
Amanda Burke, Alison Righton, Tess Rooney, Matt Marinkovich, Garrett Fraess   +4 more
wiley   +1 more source

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Fecal and Clinical Profiles of Dogs With Chronic Enteropathies Treated With Bile Acid Sequestrants for 5–47 Months: A Retrospective Case Series

Journal of Veterinary Internal Medicine, Volume 39, Issue 5, September/October 2025.
ABSTRACT Background Bile acid (BA) malabsorption and BA diarrhea (BAD) are prevalent but underdiagnosed conditions in people with chronic diarrhea of multiple causes. Recent studies have shown BA dysmetabolism in dogs with chronic enteropathies (CE). Objective Describe canine inflammatory bowel disease activity index (CIBDAI), dysbiosis index (DI) and ...
Linda Toresson, Amanda B. Blake, Chi‐Hsuan Sung, Gunilla Olmedal, Ulrika Ludvigsson, Paula R. Giaretta, M. Katherine Tolbert, Jan S. Suchodolski   +7 more
wiley   +1 more source

A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]

, 2017
Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core  

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Monilethrix: a typical case report with microscopic and dermatoscopic findings [PDF]

Anais Brasileiros de Dermatologia, 2015
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported.
Elisa Fontenelle de Oliveira, Ana Luiza Cotta de Alencar Araripe   +1 more
doaj   +2 more sources

Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família Loose anagen hair syndrome associated with macular dystrophy: a family description

Anais Brasileiros de Dermatologia, 2004
Descreve-se uma família com síndrome dos cabelos anágenos frouxos (SCAF) associada à distrofia macular. Foram descritos os achados dermatológicos, oftalmológicos e de microscopia óptica e eletrônica de varredura de 11 indivíduos.
Mário Teruo Sato, Fabiane Mulinari Brenner, Rodrigo Marzagão, Fábio Sabbag, Gisele Bordignon, José Fillus Neto, Daura R. Eiras-Stofella, Antonio Franco, Carlos Augusto Moreira Júnior   +8 more
doaj   +1 more source