Results 131 to 140 of about 495,661 (270)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Wireless blood pressure sensor implantation in sheep: A detailed technique
Animal Models and Experimental Medicine, EarlyView.Twelve adult sheep underwent wireless blood pressure sensor implantation. The procedure lasted an average of 36 min, with mean systolic and diastolic blood pressures of 93 ± 6 and 65 ± 5 mmHg, respectively. This rapid, minimally invasive protocol is a powerful platform for cardiovascular device development.
David Santer +10 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo +14 more
wiley +1 more source
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source
Discriminant spectrogram local descriptors for electrocardiography biometric authentication. [PDF]
PLoS OneLiu H, Shang Y, Lin H.
europepmc +1 more source
Polyphenol‐Based Biomaterials Against Cancer Radio/Chemotherapy‐Induced Intestinal Toxicity
Advanced NanoBiomed Research, EarlyView.Radiotherapy/chemotherapy often causes intestinal toxicity, impairing cancer patients’ quality of life and treatment efficacy. Polyphenols protect against this injury via multiple mechanisms, but face oral use limitations. This review outlines their protective mechanisms and delivery challenges, highlighting recent oral delivery advances and future ...
Jixu Lu +4 more
wiley +1 more source
Arthritis &Rheumatology, Accepted Article.Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean +4 more
wiley +1 more source
Arthritis &Rheumatology, Accepted Article.Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/Fn14 signaling in SLE‐related cardiomyopathy and its potential as a ...
Yale Liu +12 more
wiley +1 more source