Results 61 to 70 of about 314,046 (312)

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

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

RIGHT AND LEFT VENTRICULAR DYSFUNCTION IN PATIENTS WITH CHRONIC LUNG DISEASE, ECHOCARDIOGRAPHIC STUDY

The Iraqi Journal of Medical Sciences, 2004
Aim: To evaluate right and left ventricular function in patients with chronic lung disease by echocardiography   Patients & methods: 50 patients with different chronic lung disease (obstructive, restrictive and vascular lung disease) admitted to the
doaj   +1 more source

The use of NT-proBNP in clinical practice

South African Family Practice, 2004
Early detection of heart failure and the accurate diagnosis of heart failure remains a huge clinical challenge to family practitioners. ECGs and chest x-rays merely serve as baseline investigations and the diagnosis is eventually only confirmed by a two ...
J.A. Ker
doaj   +1 more source

Subclinical Left Ventricular Systolic Dysfunction in Patients with Septic Shock Based on Sepsis-3 Definition: A Speckle-Tracking Echocardiography Study

Critical Care Research and Practice, 2020
Introduction. Left ventricular dysfunction is quite common in septic shock. Speckle-tracking echocardiography (STE) is a novel, highly sensitive method for assessing left ventricular function, capable of detecting subclinical myocardial dysfunction ...
Pham Dang Hai, Le Lan Phuong, Nguyen Manh Dung, Le Thi Viet Hoa, Do Van Quyen, Nguyen Xuan Chinh, Vu Duy Minh, Pham Nguyen Son   +7 more
doaj   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Left Ventricular Diastolic Dysfunction in Asymptomatic Type 2 Diabetes Mellitus [PDF]

Kirkuk Journal of Medical Sciences
Background: Type 2 diabetes mellitus is a global public health issue. Left ventricular diastolic dysfunction is the earliest diabetic cardiovascular complication.
Marwa Suleman, Mohammed khalaf
doaj   +1 more source

Arrhythmia-Induced Cardiomyopathy

Indian Journal of Clinical Cardiology, 2021
Tachycardia is one of the important reversible causes of ventricular dysfunction. More recently, it has been recognized that premature ventricular complexes and atrial fibrillation can result in or contribute to ventricular dysfunction in the absence of ...
Ashish Jain, Raja J. Selvaraj
doaj   +1 more source

Isolated Biventricular Noncompaction in an adult with severe pulmonary hypertension : an association reviewed. [PDF]

, 2012
Biventricular noncompaction is a recently recognized rare form of cardiomyopathy. It is characterized by altered structure of myocardial wall as a result of intrauterine arrest of compaction of the myocardial fibers in absence of coexisting congenital
Awasthy, Neeraj, Tomar, Munesh, Radhakrishnan, Sitaraman   +2 more
core  

The multi-modality cardiac imaging approach to the Athlete's heart: an expert consensus of the European Association of Cardiovascular Imaging [PDF]

, 2015
peer reviewedThe term 'athlete's heart' refers to a clinical picture characterized by a slow heart rate and enlargement of the heart. A multi-modality imaging approach to the athlete's heart aims to differentiate physiological changes due to intensive ...
Galderisi, Maurizio, Popescu, Bogdan A., Cosyns, B, Petersen, SE, Cardim, Nuno, DAVIN, Laurent, Schroeder, S, Kitsiou, Anastasia, Cosyns, Bernard, Lancellotti, Patrizio, Petersen, Steffen E., Habib, G, Kitsiou, A, Edvardsen, T, Davin, L, Cardim, N, Bruder, Oliver, Popescu, Bogdan Alexandru, Burgstahler, C, D'Andrea, Antonello, Donal, E, Bruder, O, Plein, S, Freitas, A, Freitas, Antonio, Burgstahler, Christof, Galderisi, M, Edvardsen, Thor, Donal, Erwan, Lancellotti, P, Plein, Sven, D'Andrea, A, Schroeder, Stephen, Habib, Gilbert, Popescu, BA   +34 more
core   +1 more source