Results 51 to 60 of about 157,536 (243)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science
Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied.
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
doaj   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Temporal Trends in and Associations With Nonsteroidal Anti‐inflammatory Drug Prescription in Adult and Pediatric Patients With Inflammatory Bowel Disease

Arthritis Care &Research, EarlyView.
Objective Recent inflammatory bowel disease (IBD) treatment guidelines have recommended against nonsteroidal anti‐inflammatory drug (NSAID) use despite prevalent musculoskeletal symptoms and opioid overuse in this population. Given the discordance between changing national guidelines and potential clinical utility, we sought to assess national temporal
Adam S. Mayer, Rui Xiao, Andrew Grossman, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +5 more
wiley   +1 more source

THERAPY OF HYPERACTIVE URINARY BLADDER: EXPANSION OF HORIZONS

Медицинский совет, 2016
Hyperactive urinary bladder (HUB) is one of the most frequent disturbances of the urination. Hyperactive urinary bladder (HUB) is a syndrome characterized by presence of imperative uriesthesia accompanied and not accompanied by urgent urinary ...
E. I. KARPOV
doaj   +1 more source

Simvastatin Restores Uteroplacental Hemodynamics and Trophoblast Function in Obstetric Antiphospholipid Syndrome in a Placenta‐on‐a‐Chip Model

Advanced Healthcare Materials, EarlyView.
Simvastatin mitigates placental hypoperfusion in OAPS by ameliorating abnormal uteromaternal hemodynamics and enhancing trophoblast invasion via optimized endothelial cell interactions under pathological shear stress, as evidenced by results from a placenta‐on‐a‐chip platform.
Hongli Liu, Yuan Wang, Yanjun Cai, Ruixin Guo, Shunhua Liu, Tingting Chen, Tingting Sun, Ruiheng Huo, Tengwei Liu, Qingfeng Lv, Xietong Wang   +10 more
wiley   +1 more source

Novel Uses of Brimonidine

Delhi Journal of Ophthalmology
Brimonidine tartrate is a third-generation, highly selective alpha 2 agonist currently available in various formulations and doses to treat ophthalmological conditions. The aim of this article was to review pharmacokinetics, mechanisms, side effects, and
Hikkalagutti. S. Kruthika, Chauhan Tulika, Patyal Sagarika, Bhardwaj Kanika, Dabas Garvita   +4 more
doaj   +1 more source

Why, when and for what diseases pregnant and new mothers “should” be vaccinated

Human Vaccines & Immunotherapeutics, 2017
Immunological and serological changes that occur during pregnancy can alter the susceptibility of both the mother and the fetus against various infectious diseases.
Giovanni Gabutti, Giorgio Conforti, Alberto Tomasi, Parvanè Kuhdari, Paolo Castiglia, Rosa Prato, Silvia Memmini, Chiara Azzari, Giovanni Vitali Rosati, Paolo Bonanni   +9 more
doaj   +1 more source

Sleep Alters the Velocity of Physiological Brain Pulsations in Humans

Advanced Science, EarlyView.
Sleep alters I/CSF oscillatory flow, driven by increased respiratory (29%) and vasomotor pulsation (21%) velocities, while cardiovascular pulsations decreased by (22%). Velocity is quantified using optical flow analysis of MREG data. Spectral power increases alongside these pulsations (spatial correlation, r = 0.35 and r = 0.39, respectively ...
Ahmed Elabasy, Heta Helakari, Tommi Väyrynen, Zalán Rajna, Niko Huotari, Lauri Raitamaa, Ville Isokoski, Matti Järvelä, Mika Kaakinen, Johanna Piispala, Mika Kallio, Vesa Korhonen, Tapio Seppänen, Vesa Kiviniemi   +13 more
wiley   +1 more source