Results 51 to 60 of about 11,428 (200)

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

Pediatric Investigation, EarlyView.
• 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

Assessment of genetic variation(s) in BBS10, BBS6, and BBS12 in a family from Sindh, Pakistan diagnosed with Bardet-Biedl Syndrome

Journal of the Pakistan Medical Association
Objective: To analyse the symptoms of Bardet-Biedl Syndrome, and to check the association of BBS10 (Bardet-Biedl syndrome 10 gene), BBS6 (Bardet-Biedl syndrome 6 gene) and BBS12 (Bardet-Biedl syndrome 12 gene) with the pathogenesis of Bardet-Biedl ...
Sehrish Fatima, Maryam Amjad, Faiza Zehra, Khalid Sher, Suneel Kumar, Saima Saleem, Sitwat Zehra   +6 more
doaj   +1 more source

A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever [PDF]

, 2014
BACKGROUND: Generalized progressive retinal atrophy (PRA) is a group of inherited eye diseases characterised by progressive retinal degeneration that ultimately leads to blindness in dogs. To date, more than 20 different mutations causing canine-PRA have
Berit Wallin-Håkansson, Cathryn S Mellersh, Louise M Downs, Tomas Bergström   +3 more
core   +1 more source

Amylin analogues as a novel perspective in anti‐obesity therapy

British Journal of Pharmacology, EarlyView.
Abstract Public health systems face a major challenge because of the worldwide obesity epidemic. The number of obese individuals has increased dramatically and, even in Switzerland which may be considered a relatively “lean” country, the numbers are alarmingly high and have reached almost 50% of the adult population.
Thomas A. Lutz
wiley   +1 more source

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome [PDF]

, 2017
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
Barrett, T, Beales, PL, Best, S, Bockenhauer, D, Borrows, S, Foggensteiner, L, Forsythe, E, Goldsmith, D, Hoskins, B, Milford, DV, Mohammed, S, Sabir, A, Sparks, K, Williams, D   +13 more
core  

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
core   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

Clinical Medicine Insights: Case Reports, 2023
Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy.
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande   +8 more
doaj   +1 more source

Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders [PDF]

, 2014
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male
Arcos-Burgos, M., Boguszewski, C., Boguszewski, M., Chuah, A., Huttley, G., Johar, A., Licinio, J., Mastronardi, C., Patel, H., Paz-Filho, G., Wong, M.   +10 more
core   +2 more sources