Results 71 to 80 of about 349,199 (257)

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li   +11 more
wiley   +1 more source

Exploring Chromosomal Polymorphism and Evolutionary Implications in Rineloricaria lanceolata (Günther, 1868) (Siluriformes: Loricariidae): Insights from Meiotic Behavior and Phylogenetic Analysis

open access: yesBiology
Chromosomal polymorphism is a significant aspect of population genetics, influencing the adaptation and evolution of species. In Rineloricaria lanceolata, a Neotropical fish species, chromosomal polymorphism has been observed, yet the underlying ...
Vanessa Isabel Batista de Morais   +4 more
doaj   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau   +11 more
wiley   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

open access: yesArthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah   +8 more
wiley   +1 more source

Influence of socioeconomic lifestyle factors and genetic polymorphism on type 2 diabetes occurrences among Tunisian Arab and Berber groups of Djerba Island

open access: yesPharmacogenomics and Personalized Medicine, 2009
Thouraya Baroudi Ouederni1, Ahmed Fadiel2,3, Nejla Stambouli1, Trudy J Scalize3, Hedi Ben Maiz4, Hafaona Kammoun Abid1, Rim Bouhaha1, Jose Sanchez-Corona5, Adel Hamza1,6*, Amel Benammar-Elgaaied1,*1Laboratory of Genetics, Immunology and Human Pathology ...
Thouraya Baroudi Ouederni   +3 more
doaj  

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh   +5 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Single Nucleotide Polymorphisms, Associated with Increased Risk of Irritable Bowel Syndrome with Predominant Constipation: A Meta Analysis

open access: yesРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии
Introduction. Genetic predisposition in combination with environmental factors and the patient’s psychological and emotional state play a key role in the development of irritable bowel syndrome (IBS).
E. A. Trush   +5 more
doaj   +1 more source

Genetic Polymorphism

open access: yes, 2017
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease.
openaire   +2 more sources

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

open access: yesArthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss   +9 more
wiley   +1 more source

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