Results 151 to 160 of about 99,627 (293)

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

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

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  

Hypercortisolism: Causes, Consequences and Clinical Significance – A Review of Pathophysiology

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hypercortisolism or Cushing syndrome is a heterogeneous clinical spectrum caused by chronic glucocorticoid excess, ranging from exogenous Cushing syndrome to rare endogenous aetiologies and the increasingly recognised entity of mild autonomous cortisol secretion (MACS). Physiological cortisol production is tightly regulated by the hypothalamic–
Mohamed Eldib, Francisco Emilio Fierro, Maria Ortega Abad, Ricardo Correa   +3 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  

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

Response to equine cardiac adverse events during sports

Equine Veterinary Education, EarlyView.
Summary Cardiac adverse events and sudden death are a feared scenario for equine veterinarians, with serious consequences for animal health, riders' safety and the social licence to operate equestrian sports. The response to equine cardiac adverse events (CAEs) during sports is poorly defined.
C. Navas de Solis, J. Keen, A. Decloedt, B. Delvescovo, K. Hopster, K. Mitchell, J. Slack, G. van Loon, G. Van Steenkiste, L. Nath   +9 more
wiley   +1 more source

Agreement of the performance of equine electrocardiogram recording devices for ECG complexity analysis

Equine Veterinary Journal, EarlyView.
Abstract Background Non‐linear equine electrocardiography (ECG) analysis is an actively developing study area which has the potential to lead to novel, artificial intelligence‐based diagnostic tools in equine cardiology. As more ECG recording devices are becoming available, there is a need to ensure results are interchangeable regardless of the ...
Vadim Alexeenko, Dhruvpal Singh Anchan, Fe Ter Woort, Caroline Ribonnet, Emmanuele van Erck, Celia Marr, Kamalan Jeevaratnam   +6 more
wiley   +1 more source

GCN2 in proteostasis: structural logic, signalling networks and disease

The FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source