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Total 496 results found since Jan 2013.
Genes, Vol. 14, Pages 1539: Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation & mdash;Case Report and Review of the Literature
This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnorma...
Source: Genes - July 27, 2023 Category: Genetics & Stem Cells Authors: Adel Shalata Marina Bar-Shai Yarin Hadid Muhammad Mahroum Hila Mintz Zaher Eldin Shalata Evgeny Radzishevsky Jacob Genizi Avraham Lorber Tamar Ben-Yosef Liat Yaniv Tags: Article Source Type: research
Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death
Conclusion and relevanceThe present study showed varied heart morphology in young adults with DM1 and sudden death. Synergistic effects of various genetic factors other than CTG repeats may increase the risk of sudden cardiac death in DM1 patients, even if signs of cardiac and skeletal muscle involvement are mild. Comprehensive genetic investigations, other than CTG repeat assessment, may be useful to estimate the risk of sudden cardiac death in DM1 patients.
Source: Journal of Neurology - July 11, 2023 Category: Neurology Source Type: research
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
In conclusion, to the best of our knowledge, we present the first case of MEB caused by UPD, providing valuable insights into the genetic mechanisms underlying this condition.
Source: Frontiers in Genetics - June 5, 2023 Category: Genetics & Stem Cells Source Type: research
Diet-induced obesity augments ischemic myopathy and functional decline in a murine model of Peripheral Artery Disease
Transl Res. 2023 May 21:S1931-5244(23)00088-9. doi: 10.1016/j.trsl.2023.05.002. Online ahead of print.ABSTRACTPeripheral artery disease (PAD) causes an ischemic myopathy contributing to patient disability and mortality. Most preclinical models to date use young, healthy rodents with limited translatability to human disease. Although PAD incidence increases with age, and obesity is a common comorbidity, the pathophysiologic association between these risk factors and PAD myopathy is unknown. Using our murine model of PAD, we sought to elucidate the combined effect of age, diet-induced obesity and chronic hindlimb ischemia (H...
Source: Translational Research : the journal of laboratory and clinical medicine - May 23, 2023 Category: Laboratory Medicine Authors: Emma Fletcher Dimitrios Miserlis Kristina Sorokolet Dylan Wilburn Cassandra Bradley Evlampia Papoutsi Trevor Wilkinson Andrew Ring Lucas Ferrer Gleb Haynatzki Robert S Smith William T Bohannon Panagiotis Koutakis Source Type: research
Test-retest reliability of three life balance measures in people with neuromuscular disease: the activity card sort-NL, the activity calculator, and the occupational balance questionnaire
Conclusion: All three tools showed good to excellent test-retest reliability in a sample of patients with FSHD or MM, which is promising for its use in clinical practice and research.PMID:37212794 | DOI:10.1080/09638288.2023.2213482
Source: Disability and Rehabilitation - May 22, 2023 Category: Rehabilitation Authors: J M P Leenders A C H Geurts E M J Steultjens T L Packer E H C Cup Source Type: research
Diet-induced obesity augments ischemic myopathy and functional decline in a murine model of Peripheral Artery Disease
Peripheral artery disease (PAD) causes an ischemic myopathy contributing to patient disability and mortality. Most preclinical models to date use young, healthy rodents with limited translatability to human disease. Although PAD incidence increases with age, and obesity is a common comorbidity, the pathophysiologic association between these risk factors and PAD myopathy is unknown. Using our murine model of PAD, we sought to elucidate the combined effect of age, diet-induced obesity and chronic hindlimb ischemia (HLI) on 1) mobility, 2) muscle contractility, and markers of muscle 3) mitochondrial content and function, 4) o...
Source: Translational Research - May 21, 2023 Category: Research Authors: Emma Fletcher, Dimitrios Miserlis, Kristina Sorokolet, Dylan Wilburn, Cassandra Bradley, Evlampia Papoutsi, Trevor Wilkinson, Andrew Ring, Lucas Ferrer, Gleb Haynatzki, Robert S. Smith, William T Bohannon, Panagiotis Koutakis Source Type: research
Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS
EMBO Mol Med. 2023 May 8:e16883. doi: 10.15252/emmm.202216883. Online ahead of print.ABSTRACTABCC9-related intellectual disability and myopathy syndrome (AIMS) arises from loss-of-function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP-sensitive potassium (KATP ) channels. KATP channels are found throughout the cardiovascular system and skeletal muscle and couple cellular metabolism to excitability. AIMS individuals show fatigability, muscle spasms, and cardiac dysfunction. We found reduced exercise performance in mouse models of AIMS harboring premature stop codons in ABCC9. Given the roles of KA...
Source: Molecular Medicine - May 8, 2023 Category: Molecular Biology Authors: Conor McClenaghan Maya A Mukadam Jacob Roeglin Robert C Tryon Manfred Grabner Anamika Dayal Gretchen A Meyer Colin G Nichols Source Type: research
Low handgrip strength is associated with diabetic foot disease in geriatric patients with type 2 diabetes
This study aims to reveal the prevalence of low handgrip strength in older patients with type 2 diabetes who have diabetic foot disease and to assess the association of handgrip strength with diabetic foot disease in older patients with type 2 diabetes.METHODS: Eighty-nine geriatric patients with diabetic foot ulcers and 69 patients without diabetic foot ulcers who presented to the endocrinology outpatient clinic between August 2020 and November 2021 were included in the study. The exclusion criteria were the usage of steroids, stroke-induced quadriplegia, myopathy, disability, hemodialysis treatment, type 1 diabetes, pati...
Source: Turkish Journal of Medical Sciences - March 22, 2023 Category: General Medicine Authors: Eren İmre Ne şe Koçakgöl Erdi İmre Source Type: research
