Results 51 to 60 of about 2,034 (157)

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Case Reports in Clinical Practice
Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations.
Apoorva Suran, Jaideep Khare
doaj   +1 more source

Dysregulated Sheddase Signalling as a Molecular Driver of Plaque Instability Revealed by Integrative Transcriptomics

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT Atherosclerosis is a major cause of mortality due to chronic and progressive low‐grade inflammation and fibroproliferative remodelling of the intima of arteries. Comprehensive understanding of the interplay between plaque biology and the mechanisms underlying plaque vulnerability and rupture is essential.
Alaa G. Alahmadi, Hind A. Alkhatabi, Reem M. Alotibi, Wedad M. Albeshri, Mohammed El‐Mezgueldi, Ammar AL‐Farga, Peter Natesan Pushparaj   +6 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A 52‐Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort

Obesity, Volume 34, Issue 3, Page 579-587, March 2026.
ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Jesús Argente, Andrea M. Haqq, Jan Luca Schorfheide, Nicolas Touchot, Caroline Huber, Urs Wiedemann, Jeremy Pomeroy, on behalf of the Phase 3 BBS Trial Investigators, Wendy Chung, Karine Clément, Hélène Dollfus, Elizabeth Forsythe, Robert M. Haws, Gabriel Á. Martos‐Moreno, Christine Poitou, Jack A. Yanovski   +15 more
wiley   +1 more source

Prevalent ALMS1 pathogenic variants in Spanish Alström patients [PDF]

, 2021
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and ...
Carlos Solarat, Brais Bea-Mascato, José M. Millán, Valverde Pérez, Diana, Ayuso, Carmen, Diana Valverde, Perea Romero, Irene, Teresa Jaijo, Fiona Blanco-Kelly, Carmen Ayuso, Millán, José M., Jaijo, Teresa, Bea Mascato, Brais, Blanco Kelly, Fiona, López Solarat, Carlos, Irene Perea-Romero   +15 more
core   +1 more source

Alstrom syndrome: A rare genetic disorder and its anaesthetic significance

Indian Journal of Anaesthesia, 2010
Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac
Akhilesh Tiwari, Disha Awasthi, Swapnil Tayal, S Ganguly   +3 more
doaj   +1 more source

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in Pediatrics, 2021
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango   +18 more
doaj   +1 more source

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar, Sumit R. Monu, Jiang Xu, Mariela Mendez, Xiao‐Ping Yang, Nour‐Eddine Rhaleb, Pablo A. Ortiz   +6 more
wiley   +1 more source

Duration of diabetes predicts aortic pulse wave velocity and vascular events in Alström Syndrome [PDF]

, 2015
CONTEXT:Alström syndrome is characterized by increased risk of cardiovascular disease from childhood.OBJECTIVE:To explore the association between risk factors for cardiovascular disease, aortic pulse wave velocity, and vascular events in Alström syndrome.
Carey, Catherine, Paisey, Richard B, Steeds, Richard, Bunce, Susan, Steeds, Richard P, Paisey, Richard B., Marshall, Jan D., Edwards, Nicola C, Campbell, Fiona, Maffei, Pietro, Geberhiwot, Tarekegn, Barrett, Timothy; id_orcid, Edwards, Nicky, Smith, Jamie, Barrett, Timothy, Paisey, Christopher, Bunce, S   +16 more
core   +1 more source

Western Diet Promotes Renal Injury, Inflammation, and Fibrosis in a Murine Model of Alström Syndrome. [PDF]

, 2020
IntroductionAlström syndrome is a rare recessive genetic disease caused by mutations in ALMS1, which encodes a protein that is related to cilia function and intracellular endosome trafficking.
Brenner, David, Dhar, Debanjan, Nespoux, Josselin, Ganguly, Souradipta, Zhang, Haiyan, Vallon, Volker, Kim, Young Chul, Freeman, Brent   +7 more
core   +1 more source

DataSheet1_Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.PDF [PDF]

, 2022
Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals.
Qianwen Zhang (2727100), Xiumin Wang (3157149), Biyun Feng (11263715), Yirou Wang (5844728), Guoying Chang (5844743), Shijian Liu (553892), Yao Chen (149006), Jian Wang (5901), Lijun Fu (120480), Yu Ding (54012), Yijun Tang (540365), Qian Li (114642)   +11 more
core   +1 more source