Results 51 to 60 of about 30,797 (247)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report.

Critical Care Innovations
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome (MELAS) is a rare mitochondrial disorder characterised by diverse neurological and systemic manifestations.
Kartik Goel, Divyanshu Singh, Ravi Bhargav, Harsh Kansagara, Shailesh Kumar, Rupesh Yadav   +5 more
doaj   +1 more source

COVID-19 associated acute demyelination masquerading as stroke: a case report

The Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background During the recent outbreak of COVID-19, various atypical extrapulmonary manifestations are being seen, including neurological ones. Reported cases mainly include encephalopathy, myelitis, and cranial nerve involvement.
Krati Khandelwal, Monika Puranik, Vivek Gupta, Gaurav Khandelwal, Pranav Kumar Dave, Makarand Hirve   +5 more
doaj   +1 more source

Pathogenesis and treatment of stroke-like episodes in MELAS

Rinsho Shinkeigaku, 2008
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a distinct clinical syndrome caused by mutations in mitochondrial DNA. Crucial molecular mechanism includes a lack of taurine modification at the wobble uridine of the mutant tRNA(Leu(UUR)), causing UUG condon-specific translational defect and mitochondrial ...
openaire   +3 more sources

Blood pressure effects of SGLT2 inhibitors and GLP‐1 receptor agonists: Mechanisms, trial evidence and Real‐world data

British Journal of Clinical Pharmacology, EarlyView.
SGLT2 inhibitors and GLP‐1 receptor agonists modestly lower blood pressure across diverse patient populations, including those without diabetes. These effects appear largely independent of glycaemic control and offer additive value in high‐risk patients with overlapping comorbidities.
Andrej Belančić, Yusuf Ziya Sener, Marijana Vučković, Joseph Edgar Blais, Almir Fajkić, Emina Sher, Mislav Radić, Josipa Radić   +7 more
wiley   +1 more source

Comparative treatment effects of direct oral anticoagulants versus warfarin for nonvalvular atrial fibrillation in clinical practice vary over time due to channelling

British Journal of Clinical Pharmacology, EarlyView.
Aim Temporal shifts in patient characteristics can influence comparative treatment effects within a certain indication. We investigated patient characteristics and comparative effectiveness and safety for direct oral anticoagulants (DOACs) and warfarin over the time period where DOACs replaced warfarin as preferred stroke prophylaxis in patients with ...
Raoul B. L. J. van den Hemel, Aernoud T. L. Fiolet, Magdalena A. Gamba, Patrick C. Souverein, Olaf H. Klungel, Lourens T. Bloem, Sophie H. Bots   +6 more
wiley   +1 more source

New Insights Into the Three‐Dimensional Mechanics of the Flagellar Beat Cycle

Cytoskeleton, EarlyView.
ABSTRACT Advances in imaging at the molecular scale have provided greater detail concerning the three‐dimensional structure of the ciliary/flagellar axoneme. Additionally, it has recently been confirmed that electrostatic forces regulate the dynein‐tubulin interaction at the microtubule binding domain (MTBD) of dynein, and at the junction of the nexin ...
Charles B. Lindemann
wiley   +1 more source

Vocational and Educational Outcomes in Adults With Sturge–Weber Syndrome: Preliminary Results From a Clinical Needs Assessment

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The clinical presentation of Sturge–Weber syndrome (SWS) is highly variable, with seizures during infancy and co‑occurring neurodevelopmental conditions commonly reported. Although these features are known to affect childhood functioning, their relationship to adult vocational and educational outcomes remains poorly understood.
Katharine E. Joslyn, Catherine Stephan, Anne M. Comi, Andrew T. Zabel   +3 more
wiley   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

eGFR slope as predictor of mortality in heart failure patients

ESC Heart Failure, Volume 12, Issue 2, Page 1217-1226, April 2025.
Abstract Aims Heart failure (HF) leads to an imbalance between heart and kidney function, resulting in poor outcomes. However, the prognostic significance of the estimated glomerular filtration rate (eGFR) trajectory in HF patients remains unclear. We analysed electronic health records (EHRs) of real‐world HF patients, assessing eGFR trajectories and ...
Sofie Verstreken, Monika Beles, Clara L. Oeste, Ana Moya, Imke Masuy, Riet Dierckx, Ward Heggermont, Jeroen Dauw, Dries Hens, Jozef Bartunek, Marc Vanderheyden   +10 more
wiley   +1 more source