Results 61 to 70 of about 2,862 (212)

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

Disease Models & Mechanisms
Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple   +7 more
doaj   +2 more sources

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Respiratory and haemodynamic changes during decremental open lung positive end-expiratory pressure titration in patients with acute respiratory distress syndrome [PDF]

, 2009
INTRODUCTION: To investigate haemodynamic and respiratory changes during lung recruitment and decremental positive end-expiratory pressure (PEEP) titration for open lung ventilation in patients with acute respiratory distress syndrome (ARDS) a ...
Gernoth C, Luecke T., Pelosi P, Wagner G
core   +1 more source

Wolfram to Alstrom: Analysis of a Diagnostic Error

Online Journal of Health & Allied Sciences, 2021
Wolfram syndrome (DIDMOAD) and Alstrom syndrome are two rare, clinically similar diseases inherited in an autosomal recessive pattern. We report the case of a 19 year old male who presented with left upper abdominal mass and two episodes of high coloured
Annapoorna Chakrabarty, Shipra Rai, Kavitha Saravu   +2 more
doaj  

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

Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme

Frontiers in Endocrinology, 2022
The primary cilium is a narrow organelle located at the surface of the cell in contact with the extracellular environment. Once underappreciated, now is thought to efficiently sense external environmental cues and mediate cell-to-cell communication ...
Marta Pablos, Elena Casanueva-Álvarez, Carlos M. González-Casimiro, Beatriz Merino, Germán Perdomo, Irene Cózar-Castellano, Irene Cózar-Castellano, Irene Cózar-Castellano   +7 more
doaj   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study

Orphanet Journal of Rare Diseases, 2021
Background Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited.
Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton, Amy Hunter   +9 more
doaj   +1 more source

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies [PDF]

, 2022
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and ...
Ayuso, Carmen, Blanco Kelly, Fiona, Corton, Marta, García Sandoval, Blanca, Hakonarson, Hakon, Liu, Yichuan, Lorda, Isabel, López Molina, María Isabel, Mínguez, Pablo, Pérez Carro, Raquel, R. J. da Silva, Luciana, Riveiro Álvarez, Rosa, Sánchez Alcudia, Rocío, Sánchez Bolivar, Noelia, Sánchez Navarro, Iker, Tahsin Swafiri, Saoud, Tian, Lifeng, Valverde Pérez, Diana, Villaverde, Cristina, Zurita, Olga, Ávila Fernández, Almudena   +20 more
core   +1 more source

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis

Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte, Nicolas Touchot, Manuel Batram, Jana Diekmannshemke, Mathias Flume, Hermann L. Müller   +5 more
wiley   +1 more source