Results 111 to 120 of about 347,894 (338)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Facilitation of I Kr current by some hERG channel blockers suppresses early afterdepolarizations. [PDF]

, 2019
Drug-induced block of the cardiac rapid delayed rectifying potassium current (I Kr), carried by the human ether-a-go-go-related gene (hERG) channel, is the most common cause of acquired long QT syndrome.
Chen, I-Shan, Furutani, Kazuharu, Handa, Kenichiro, Kurachi, Yoshihisa, Sack, Jon T, Tsumoto, Kunichika, Yamakawa, Yuko   +6 more
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

COMPARATIVE EVALUATION OF PERMANENT CARDIAC PACING IN PACEMAKER-DEPENDENT PATIENTS WITH DIFFERENT PATTERNS OF RIGHT VENTRICLE EXCITATION

Медицинский вестник Юга России, 2015
Purpose: comparative analysis of the effectiveness of permanent cardiac pacing and quality of life in the pacemaker-dependent chronical heart failure patients with different patterns of excitation of the right ventricle.Materials and methods: we examined
V. V. Korshunov, G. V. Chudinov, V. P. Terentiev   +2 more
doaj   +1 more source

BRADYCARDIA, WITH ARRHYTHMIA AND EPILEPTIFORM SEIZURES [PDF]

, 1906
J. Magee Finny
openalex   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Accuracy and clinical relevance of the single-lead Apple Watch electrocardiogram to identify atrial fibrillation

Cardiovascular Digital Health Journal, 2022
Background: The Apple Watch (AW) is the first commercially available wearable device with built-in electrocardiogram (ECG) electrodes to perform a single-lead ECG to detect atrial fibrillation (AF).
Shari Pepplinkhuizen, MD, FHRS, Wiert F. Hoeksema, MD, Willeke van der Stuijt, MD, Nicole J. van Steijn, MD, Michiel M. Winter, MD, PhD, Arthur A.M. Wilde, MD, PhD, FHRS, Lonneke Smeding, PhD, Reinoud E. Knops, MD, PhD   +7 more
doaj  

EFFECT OF DIBENAMINE ON CYCLOPROPANE-EPINEPHRINE ARRHYTHMIAS [PDF]

, 1950
NORMAN R. J. McMILLEN, HAMPTON JENNINGS, Victor A. Drill   +2 more
openalex   +1 more source

Safety and Efficacy of Catheter Ablation for Pediatric Ventricular Tachyarrhythmia [PDF]

, 2018
学位記番号 ...
Ikeda, Kentaro, イケダ, ケンタロウ, 池田, 健太郎   +2 more
core  

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source