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| http://dx.doi.org/10.1136/adc.28.141.351 | DOI Listing |
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Medical Problems of Chronic Hypoxia in Highlanders Living on the Tibetan Plateau.
High Alt Med Biol
January 2025
The Research Center for High Altitude Medicine, Qinghai University, Xining, China.
Ri-Li Ge. Medical problems of chronic hypoxia in highlanders living on the tibetan plateau. 00:00-00, 2024.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
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Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
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Catheter ablation of atrial flutter in an adult with a univentricular heart, common atrium, and single atrioventricular valve: a case report-'complex things don't always require a complex solution'.
Eur Heart J Case Rep
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Cardiac Electrophysiology, National Medical Center 'November 20th', ISSSTE, Av. Felix Cuevas #540, Col. Del Valle Del. Benito Juarez, C.P. 03100 Mexico City, Mexico.
Background: The 'univentricular' heart encompasses a variety of congenital cardiac defects characterized by a single functional ventricle and an underdeveloped ventricular chamber. Surgical intervention, typically in infancy or childhood, aims to regulate pulmonary blood flow volume. In adulthood, untreated patients may experience limitations in physical activity and elevated morbidity due to persistent cyanosis and arrhythmias, notably after the Fontan procedure.
View Article and Find Full Text PDFKlippel-Trenaunay Syndrome: A Case Study of Severe Anemia in a Rare Vascular Disorder.
Cureus
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Internal Medicine Department, Hamad Medical Corporation, Doha, QAT.
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder involving varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and bones. It is often linked to gene mutations. It affects the lymphatic, capillary, and venous systems.
View Article and Find Full Text PDFClinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
J Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
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