Results 41 to 50 of about 5,143,829 (287)

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

One and a half ventricle repair: clinical and animal study [PDF]

, 2013
SUMMARY Since the first description of the so called “one and a half ventricle repair”, published by Billingsly et al. in 1989 1, this type of correction has been applied to several complex congenital cardiac anomalies.
Bhattarai, Anil
core  

Risk Factors and Outcomes of Children with Congenital Heart Disease on Extracorporeal Membrane Oxygenation—A Ten-Year Single-Center Report

Life, 2023
For children born with congenital heart defects (CHDs), extracorporeal life support may be necessary. This retrospective single-center study aimed to investigate the outcomes of children with CHDs on extracorporeal membrane oxygenation (ECMO), focusing ...
Antonio Amodeo, Milena Stojanovic, Tugba Erdil, Hitendu Dave, Robert Cesnjevar, Sebastian Paal, Oliver Kretschmar, Martin Schweiger   +7 more
doaj   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Relationship Between Obesity and Global Longitudinal Strain in the Pediatric Single Ventricle Fontan Population Across Ventricular Morphologies

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Obesity is associated with diminished myocardial function as measured by strain echocardiography in children and young adults with normal cardiac anatomy.
Nitin Madan, Doaa Aly, Melanie Kathol, Amulya Buddhavarapu, Thomas Rieth, Ashley Sherman, Daniel Forsha   +6 more
doaj   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Twisted atrioventricular connections in double inlet right ventricle: evaluation by magnetic resonance imaging [PDF]

, 2000
Twisted atrioventricular connections occur almost exclusively in the hearts with biventricular atrioventricular connections. Only one example of double inlet left ventricle has been illustrated in which the axes of the two atrioventricular valves crossed
Yoo, SJ, Kim, TH, Anderson, RH, Ho, SY
core  

Complex aortopulmonary window in a single ventricle setting: Technical considerations for staged palliation

Annals of Pediatric Cardiology, 2016
We report a successful surgical management of a case presented with a combination of aortopulmonary window (APW) with large ventricular septal defect (VSD) amounting to a single ventricle, with a view to highlight technical considerations during staged ...
Gananjay G Salve, Shreepal A Jain, Sandip S Katkade, Krishnanaik Shivaprakash   +3 more
doaj   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

A rare case of adult congenital heart disease: single ventricular chamber with anomalous right coronary artery in an octogenarian

Journal of Community Hospital Internal Medicine Perspectives, 2019
Patients with single-ventricle physiology encompass a wide array of anatomic subtypes, including but not limited to: tricuspid atresia, hypoplastic left heart syndrome, double-outlet or double-inlet ventricles.
Muhammad Shabbir Rawala, Amna Saleem Ahmed, Syed Bilal Rizvi   +2 more
doaj   +1 more source