Results 61 to 70 of about 6,126 (165)

Bardet–Biedl Syndrome in an Ethiopian

International Medical Case Reports Journal, 2021
Asamere Tsegaw,1 Tiliksew Teshome2 1Department of Ophthalmology, School of Medicine, University of Gondar, Gondar, Ethiopia; 2Department of Ophthalmology, Faculty of Medicine, Addis Ababa University, Addis Ababa, EthiopiaCorrespondence: Asamere ...
Tsegaw A, Teshome T
doaj  

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases

Pediatric Investigation, Volume 10, Issue 3, Page 258-268, June 2026.
• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes, Paula Esteller‐Cucala, Marina Alvarez‐Estape, Ivan Cano, Rosa Pino, Carla González‐Grado, Andrea Aldemira‐Liz, Javier Logroño, Carlos Mascías, Juanjo do‐Olmo, Julián Isla, Yolima Cossio, Francesc Garcia‐Cuyas   +12 more
wiley   +1 more source

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Clinical Case Reports, 2020
This article reports a girl with Bardet‐Biedl syndrome (BBS) having a novel causative mutation who developed Legg‐Calvé‐Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.
Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh   +9 more
doaj   +1 more source

SEMASEARCH Study Design: Real‐World Evaluation of Semaglutide 2.4 mg in Adults With Severe Obesity Underrepresented in Clinical Trials

Diabetes, Obesity and Metabolism, Volume 28, Issue 6, Page 4602-4609, June 2026.
ABSTRACT Background Although semaglutide 2.4 mg has demonstrated significant weight loss efficacy in clinical trials, real‐world data, particularly with regard to clinically complex and underrepresented populations, remain limited. Objectives The study aims to assess the real‐world effectiveness and patient‐reported outcomes associated with the use of ...
Pierre Bel Lassen, David Jacobi, Marie‐Claude Brindisi, Jean‐Baptiste Bonnet, Fabien Subtil, Sylvie Bin, Fanny Abad, Christine Poitou, Bérénice Segrestin, Séverine Ledoux, Bénédicte Gaborit, Judith Aron‐Wisnewsky, Claire Carette, Mohamed Zerguine, Blandine Gatta‐Cherifi, Didier Quilliot, Emilie Montastier, Antoine Avignon, Héléna Mosbah, Sébastien Czernichow, Emmanuel Disse   +20 more
wiley   +1 more source

Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association

Acta Medica Iranica
Bardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl,
Mohaddeseh Behjati, Fatemeh Tohidi, Mohammad Karimian   +2 more
doaj   +1 more source

Síndroma de Bardet-Biedl.

Acta Médica Portuguesa, 2002
Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men.
Luís Siopa, Manuela Grego, Joel Cossa, Alberto Pinguinha   +3 more
doaj   +1 more source

Visual acuity and retinal function in patients with Bardet-Biedl syndrome

Clinics, 2012
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism.
Adriana Berezovsky, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Nívea Nunes Cavascan, Solange Rios Salomão   +5 more
doaj   +1 more source

Sixth Cardinal Feature of Bardet-Biedl Syndrome in a Child: Cystic Kidney Disease - Case Report

Endocrinology Research and Practice, 2005
The cardinal manifestations of Bardet–Biedl Syndrome are described to include retinal dystrophy, obesity, polydactyly or dysmorphic extremities, mental retardation, and hypogonadism which especially affects boys. Renal involvement has been described as a
Özgür Pirgon, Mehmet Emre Atabek, Ahmet Sert   +2 more
doaj   +2 more sources

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 more
doaj   +1 more source