Results 81 to 90 of about 26,269 (257)

Mitochondrial Cardiomyopathies [PDF]

, 2016
Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control.
Ayman W. El-Hattab, Fernando Scaglia
core   +2 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 [PDF]

, 2018
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle.
Acker, T, Akintürk, H, Garvalov, BK, Gräf, S, Gulatz, L, Hahn, A, Jux, C, Mazhari, N, Rupp, S, Schänzer, A, Van Coster, Rudy, Zengeler, D   +11 more
core   +2 more sources

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography. [PDF]

, 2017
Heart failure (HF) is a debilitating and life-threatening condition, with 5-year survival rate lower than breast or prostate cancer. It is the leading cause of hospital admission in over 65s, and these admissions are projected to rise by more than 50 ...
Collins, K, Harkness, A, Jones, R, Knight, D, Mathew, T, Navaratnam, G, O'Gallagher, K, Oxborough, D, Rana, B, Ring, L, Sandoval, J, Sharma, V, Steeds, RP, Stout, M, Wheeler, R, Williams, L   +15 more
core   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Frontiers in Cardiovascular Medicine, 2018
Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic ...
Oday F. Salman, Hebah M. El-Rayess, Charbel Abi Khalil, Georges Nemer, Marwan M. Refaat, Marwan M. Refaat   +5 more
doaj   +1 more source

Pattern of Cardiovascular Diseases Among Elderly Patients Admitted in Medical Wards at Muhimbili National Hospital Dar es salaam Tanzania [PDF]

, 2011
Cardiovascular disease is the most frequent cause of death in persons over the age 50 years and most importantly it is responsible for considerable morbidity and large burden of disability in the community. Cardiovascular diseases are an increasing cause
Kisenge, Peter Richard
core  

Persistent recovery of normal left ventricular function and dimension in idiopathic dilated cardiomyopathy during long\u2010term follow\u2010up: does real healing exist? [PDF]

, 2015
BACKGROUND: An important number of patients with idiopathic dilated cardiomyopathy have dramatically improved left ventricular function with optimal treatment; however, little is known about the evolution and long-term outcome of this subgroup, which ...
Anzini, Marco, Barbati, Giulia, Di Lenarda, Andrea, Merlo, Marco, Negri, Francesco, Pinamonti, Bruno, Ramani, Federica, Sinagra, Gianfranco, Stolfo, Davide   +8 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source