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| http://dx.doi.org/10.1136/jmg.39.2.e4 | DOI Listing |
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[Pedigree analysis of novel missense mutations causing hereditary coagulation factor Ⅴ deficiency].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFPulmonary hypertension in patients with chronic obstructive pulmonary disease: Impact of lung hyperinflation on the response to pulmonary hypertension treatment.
Respir Med Res
December 2024
Département de Pneumologie, CHRU Nancy, Vandoeuvre-Lès Nancy, France; INSERM U1254 IADI, Université de Lorraine, Nancy, France. Electronic address:
Background: Pulmonary hypertension (PH) is common during chronic obstructive pulmonary disease (COPD), particularly in patients with severe COPD. These patients can be classified into different PH groups due to frequent comorbidities. Emphysema is often associated with COPD and is responsible for lung hyperinflation, which may contribute to the development of PH.
View Article and Find Full Text PDFDifferential effects of gestational Cannabis smoke and phytocannabinoid injections on male and female rat offspring behavior.
Prog Neuropsychopharmacol Biol Psychiatry
January 2025
Department of Anatomy, Physiology, and Pharmacology, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada. Electronic address:
Our understanding of the implications of gestational Cannabis exposure (GCE) remains unclear as Cannabis use increases worldwide. Much of the existing knowledge of the effects of GCE has been gained from preclinical experiments using injections of isolated Δ-tetrahydrocannabinol (THC) at relatively high doses. Few investigations of the effects of GCE to smoke from the whole Cannabis flower have been conducted, despite this being the most common mode of human consumption.
View Article and Find Full Text PDFEffect of exercise training on modulating the TH17/TREG imbalance in individuals with severe COPD: A randomized controlled trial.
Pulmonology
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Laboratory of Experimental Therapeutics, LIM-20, Department of Clinical Medicine, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil.
Background: Chronic obstructive pulmonary disease (COPD) induces an imbalance in T helper (Th) 17/regulatory T (Treg) cells that contributes to of the dysregulation of inflammation. Exercise training can modulate the immune response in healthy subjects.
Objective: We aimed to evaluate the effects of exercise training on Th17/Treg responses and the differentiation of Treg phenotypes in individuals with COPD.
Can there be calm during a cytokine storm? Immune checkpoint pathways affecting the severity of COVID-19 disease.
Front Microbiol
December 2024
Department of Medical Microbiology and Immunology, Medical School, University of Pecs, Pecs, Hungary.
Introduction: The COVID-19 pandemic has become a global health crisis, eliciting varying severity in infected individuals. This study aimed to explore the immune profiles between moderate and severe COVID-19 patients experiencing a cytokine storm and their association with mortality. This study highlights the role of PD-1/PD-L1 and the TIGIT/CD226/CD155/CD112 pathways in COVID-19 patients.
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