Results 31 to 40 of about 276,376 (316)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Disopyramide Revisited for Treatment of Symptomatic Obstructive Hypertrophic Cardiomyopathy: Efficacy and Safety in Patients Treated for at Least 5 Years

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Disopyramide is used to treat heart failure symptoms in patients with obstructive hypertrophic cardiomyopathy (HCM) with known medium‐term efficacy and safety, while long‐term outcomes are unknown. Methods and Results A total of 92 consecutive
Daniele Massera, Mark V. Sherrid, Elizabeth Adlestein, Nadia Bokhari, Isabel C. Alvarez, Woon Y. Wu, Maria C. Reuter, Martin S. Maron, Barry J. Maron, Ethan J. Rowin   +9 more
doaj   +1 more source

Prevalence of anxiety and depression symptoms in a sample of outpatients with ATTR cardiac amyloidosis

Frontiers in Psychology, 2023
Patients with ATTR cardiac amyloidosis (ATTR-CA) face rare disease that could negatively influence psychological well-being with consequences on the course of the disease and quality of life.
Martina Smorti, Lucia Ponti, Lucia Ponti, Francesco Soffio, Alessia Argirò, Alessia Argirò, Federico Perfetto, Federico Perfetto, Mattia Zampieri, Mattia Zampieri, Carlotta Mazzoni, Alessia Tomberli, Marco Allinovi, Carlo Di Mario, Iacopo Olivotto, Francesco Cappelli, Francesco Cappelli   +16 more
doaj   +1 more source

Dilated cardiomyopathy in childhood [PDF]

, 2000
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected patients are high. This review discuses clinical presentation, diagnosis, medical management and prognosis of the condition, with an emphasis on recent ...
Franklin, O.M.
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Automated segmentation of left ventricular myocardium using cascading convolutional neural networks based on echocardiography

AIP Advances, 2021
Quickly and accurately segmenting the left ventricular (LV) myocardium from ultrasound images and measuring the thickness of the interventricular septum and LV wall play an important role in hypertrophic cardiomyopathy.
Shenghan Ren, Yongbing Wang, Rui Hu, Lei Zuo, Liwen Liu, Heng Zhao   +5 more
doaj   +1 more source

Cardiomyopathy and phaeochromocytoma [PDF]

Anaesthesia, 1983
Summary A ease is presented of phaeochromocytoma with catecholamine‐induced cardiomyopathy. The difficulties in the management when left ventricular failure occurred are reported and the importance of monitoring pulmonary artery pressure during the anaesthetic procedure is stressed.
F J, Gilsanz, C, Luengo, P, Conejero, P, Peral, F, Avello   +4 more
openaire   +2 more sources

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Echocardiographic Changes Following Surgical Myectomy in Severely Symptomatic Obstructive Hypertrophic Cardiomyopathy: Insights From the SPIRIT‐HCM Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background In obstructive hypertrophic cardiomyopathy, myectomy improves symptoms, quality of life, and left ventricular (LV) outflow tract gradients. We prospectively evaluated the temporal changes in various echo parameters after myectomy.
Milind Y. Desai, Natalie Szpakowski, Albree Tower‐Rader, Barb Bittel, Agostina Fava, Susan Ospina, Bo Xu, Maran Thamilarasan, Amgad Mentias, Nicholas G. Smedira, Zoran B. Popovic   +10 more
doaj   +1 more source

Diagnosis and immunosuppressive treatment of inflammatory cardiomyopathy : a case report

, 2020
Objectives: Definite diagnosis of myocarditis requires an endomyocardial biopsy (EMB) showing an inflammatory infiltrate. However, there are important limitations on establishing the diagnosis solely upon histological criteria. The main objective of this
Naesens, Leslie, Penicka, M., Naesens, L., Heggermont, W., Naesens, LeslieUZGent0000802646688020030372479715201073090000-0003-1715-0665118A0826-F0EE-11E1-A9DE-61C894A0A6B4   +4 more
core   +1 more source