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Uncovering risk factors of premature mortality in Common Variable Immunodeficiency (CVID).
J Allergy Clin Immunol Pract
March 2025
Division of Immunodeficiency, Department of Rheumatology and Clinical Immunology, Medical Center -University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:
Background: Among patients with common variable immunodeficiency (CVID) patients with complications of immune dysregulation (CVIDc) have higher mortality rates compared to those with infection-only presentation (CVIDio). Therefore, identifying predictive markers of premature mortality among CVIDc patients is crucial.
Objective: The purpose of this retrospective exploratory study was to describe the mortality in a large tertiary referral center and compare the clinical and laboratory characteristics of CVIDc patients who died prematurely with a group of matched living CVIDc control patients to identify potential indicators of premature death.
Association of LHCGR rs2293275 genotype with ovarian aging in Chinese women: a multicenter population-based study.
Reprod Biol Endocrinol
March 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Objective: To evaluate the association between the LHCGR rs2293275 (N312S) genotype and ovarian aging phenotypes in Han Chinese women, focusing on diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI).
Study Design: This multicenter population-based study included 1,240 women aged 18-40 years diagnosed with DOR (n = 711) or POI (n = 529), alongside 72,846 ethnically and regionally matched controls from the Han Chinese Genomes Database (PGG.Han).
Executive function and underlying brain network distinctions for callous-unemotional traits and conduct problems in adolescents.
Psychiatry Res Neuroimaging
March 2025
Department of Psychology & Neuroscience, University of Colorado Boulder, Boulder, CO, USA; Institute of Cognitive Science, University of Colorado Boulder, Boulder, CO, USA; Department of Electrical, Computer and Energy Engineering, University of Colorado Boulder, Boulder, CO, USA.
The complexity of executive function (EF) impairments in youth antisocial phenotypes of callous-unemotional (CU) traits and conduct problems (CP) challenge identifying phenotypic specific EF deficits. We can redress these challenges by (1) accounting for EF measurement error and (2) testing distinct functional brain properties accounting for differences in EF. Thus, we employed a latent modeling approach for EFs (inhibition, shifting, fluency, common EF) and extracted connection density from matching contemporary EF brain models with a sample of 112 adolescents (ages 13-17, 42 % female).
View Article and Find Full Text PDFKidney outcomes with SGLT2 inhibitors in patients with diabetes and an insulin-deficient phenotype: A real world analysis.
Diabetes Obes Metab
March 2025
The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Aim: Diabetic kidney disease (DKD) is a major complication of diabetes, including in insulin-deficient phenotypes, yet data on kidney outcomes with sodium-glucose cotransporter 2 inhibitors (SGLT2i) in this population are limited. This study investigates the impact of SGLT2i on kidney outcomes in patients with insulin-deficient diabetes using real world data.
Materials And Methods: This retrospective cohort study utilized data from a large Health Maintenance Organization in Israel and included 12,530 propensity score-matched adults with insulin-deficient diabetes.
Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism.
Nat Ment Health
February 2025
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY USA.
While allowing for rapid recruitment of large samples, online research relies heavily on participants' self-reports of neuropsychiatric traits, foregoing the clinical characterizations available in laboratory settings. Autism spectrum disorder (ASD) research is one example for which the clinical validity of such an approach remains elusive. Here we compared 56 adults with ASD recruited in person and evaluated by clinicians to matched samples of adults recruited through an online platform (Prolific; 56 with high autistic traits and 56 with low autistic traits) and evaluated via self-reported surveys.
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