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Total 140 results found since Jan 2013.
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
The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - July 15, 2023 Category: Cardiology Source Type: research
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
First study demonstrating speckle tracking echocardiography has prognostic value in patients with idiopathic inflammatory myopathies
AbstractTo measure left ventricular (LV) global longitudinal strain (GLS) using speckle tracking echocardiography in idiopathic inflammatory myopathy (IIM) patients and to determine whether the LV GLS predicts outcomes in those patients. Prospective study consisted of a cross-sectional phase with 61 IIM patients and 32 individuals without IIM and longitudinal phase, in which patients were divided into two subgroups: 26 with reduced LV GLS and 35 with normal LV GLS; patients were followed for a mean of 25 months, and the occurrence of cardiovascular events and criteria for IIM activity were compared. The mean LV GLS (18.5...
Source: The International Journal of Cardiovascular Imaging - August 17, 2023 Category: Radiology Source Type: research
