Results 11 to 20 of about 1,144,628 (153)
Persistent Prothrombotic State in a Patient With Alström Syndrome [PDF]
JACC: Case ReportsWe present the case of a patient with Alström syndrome who was found to have evidence of a prothrombotic state on autopsy after sudden cardiac death. To the best of our knowledge, this case of persistent prothrombotic milieu is the first described in a ...
Nihit Shah, BMBS, BMedSci +4 more
doaj +5 more sources
Alström syndrome caused by maternal uniparental disomy [PDF]
American Journal of Ophthalmology Case Reports, 2023 Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour +5 more
doaj +3 more sources
New variants of ALMS1 gene and familial Alström syndrome case series [PDF]
Brazilian Journal of OtorhinolaryngologyObjectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz +6 more
doaj +3 more sources
Alström Syndrome with Acute Pancreatitis: A Case Report [PDF]
Kaohsiung Journal of Medical Sciences, 2003 We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu +9 more
doaj +2 more sources
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]
PLoS Genetics, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li +8 more
doaj +2 more sources
Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report [PDF]
Frontiers in PediatricsBackgroundObesity–retinopathy–diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1–9 cases per million,
Hua Wang +9 more
doaj +2 more sources
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene [PDF]
Diabetology & Metabolic SyndromeBackground Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng +7 more
doaj +2 more sources
Infant Alstrom syndrome diagnosed by a new gene mutation: a case report [PDF]
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
doaj +2 more sources
Brain involvement in Alström syndrome
Orphanet Journal of Rare Diseases, 2013 Background Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy.
Citton Valentina +9 more
doaj +3 more sources
Contemporary Clinical Trials Communications, 2021 Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws +5 more
doaj +2 more sources