Results 131 to 140 of about 30,861 (299)

Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation

JACC: Case Reports
In a familial cohort with 8 heterozygous carriers of a rare pathogenic SCN5A mutation (c.2482C>T), 4 female mutation carriers manifested with fetal ventricular tachycardia and 2:1 atrioventricular block.
Kathryn H. Schwartzman, BS, Hemal M. Nayak, MD, Utkarsh Kohli, MD   +2 more
doaj   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Induction of Premature Ventricular Complexes by Hemodialysis? [PDF]

Nephron, 1987
V, Wizemann, W, Kramer, V, Berger
openaire   +2 more sources

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Prolongation of the QT Interval and Post-Extrasystolic Augmentation of the TU-Wave During Emotional Stress

Indian Pacing and Electrophysiology Journal, 2008
We present a case of a 25-year-old woman with multiple blackouts and no structural heart disease, with abnormal T-U waves and borderline QT interval on her resting electrocardiogram.
Velislav N. Batchvarov, Abhay Bajpai, Elijah Behr   +2 more
doaj  

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Supraventricular tachycardia following insertion of a central venous catheter

Saudi Journal of Kidney Diseases and Transplantation, 2009
Placement of central venous catheters (CVCs) in patients is associated with several risks including endocardial injury and dysrhythmias. In addition, CVC extending into intracardiac chambers can provoke premature atrial and ventricular complexes, which ...
Yavascan Onder, Mir Sevgi, Tekguc Hakan
doaj  

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

The use of exercise testing to assess training efficacy in sport horses

Equine Veterinary Education, EarlyView.
Summary Training programmes for horses must be tailored to the physiological demands of each Fédération Équestre Internationale (FEI) discipline to optimise performance and welfare. Standardised exercise tests (SETs) have emerged as essential tools for evaluating equine fitness by measuring physiological responses to controlled workloads.
E. W. Siegers, M. M. Sloet van Oldruitenborgh‐Oosterbaan, C. C. B. M. Munsters   +2 more
wiley   +1 more source

Balancer‐assisted sling recovery of critical equine patients after general anaesthesia

Equine Veterinary Education, EarlyView.
Summary Background Traditional sling‐based systems to assist horses during recovery from general anaesthesia (GA) could be improved by adding a balancer to obtain a dynamic weight relief. Objectives To evaluate the applicability of a novel balancer‐assisted sling system during recovery of horses after GA and to report initial experiences with high‐risk
J. Kuhlmann, C. Spadavecchia, C. Koch
wiley   +1 more source