The identification of complex disease susceptibility loci has been accelerated considerably by advances in high-throughput genotyping technologies, improved insight into correlation patterns of common variants and the availability of large-scale sample sets. Linkage scans and small-scale candidate gene studies have now given way to genome-wide association scans. In this review, we summarize insights gained from the past, highlight practical issues relating to the design and analysis of current state-of-the-art GWA studies and look into future trends in the field of human complex trait genetics.
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http://dx.doi.org/10.1093/bfgp/elp020 | DOI Listing |
Kidney Int
January 2025
Laboratório de Fisiopatologia Renal (LIM 16), Nephrology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil. Electronic address:
In 2017, Kidney Disease: Improving Global Outcomes (KDIGO) published a Clinical Practice Guideline Update for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Since then, new lines of evidence have been published related to evaluating disordered mineral metabolism and bone quality and turnover, identifying and inhibiting vascular calcification, targeting vitamin D levels, and regulating parathyroid hormone. For an in-depth consideration of the new insights, in October 2023, KDIGO held a Controversies Conference on CKD-MBD: Progress and Knowledge Gaps Toward Personalizing Care.
View Article and Find Full Text PDFJ Infect Dev Ctries
December 2024
Chest Dpt., Ahmed Maher Teaching Hospital, GOTHI, Cairo, Egypt.
Introduction: The present study aimed to explore the epidemiologic threats and factors associated with the coronavirus disease 2019 (COVID-19)-associated mucormycosis (CAM) epidemic that emerged in Egypt during the second COVID-19 wave. The study also aimed to explore the diagnostic features and the role of surgical interventions of CAM on the outcome of the disease in a central referral hospital.
Methodology: The study included 64 CAM patients from a referral hospital for CAM and a similar number of matched controls from COVID-19 patients who did not develop CAM.
J Infect Dev Ctries
December 2024
Faculdade de Medicina de Campos, Campos dos Goytacazes, Brazil.
Introduction: Despite efforts by health organizations to share evidence-based information, fake news hindered the promotion of social distancing and vaccination during the coronavirus disease 2019 (COVID-19) pandemic. This study analyzed COVID-19 knowledge and practices in a vulnerable area in northern Rio de Janeiro, acknowledging the influence of the complex social and economic landscape on public health perceptions.
Methodology: This cross-sectional study was conducted in Novo Eldorado - a low-income, conflict-affected neighborhood in Campos dos Goytacazes - using a structured questionnaire, following the peak of COVID-19 deaths in Brazil (July-December 2021).
Chin Med J (Engl)
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Background: Fibrosis of the connective tissue in the vaginal wall predominates in pelvic organ prolapse (POP), which is characterized by excessive fibroblast-to-myofibroblast differentiation and abnormal deposition of the extracellular matrix (ECM). Our study aimed to investigate the effect of ECM stiffness on vaginal fibroblasts and to explore the role of methyltransferase 3 (METTL3) in the development of POP.
Methods: Polyacrylamide hydrogels were applied to create an ECM microenvironment with variable stiffness to evaluate the effects of ECM stiffness on the proliferation, differentiation, and expression of ECM components in vaginal fibroblasts.
J Med Case Rep
January 2025
Bone and Joint Diseases Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: Management of the extensive soft tissue injuries remains a significant challenge in orthopedic and plastic reconstructive surgery. Since the thumb is responsible for 40% of the functions of the hand, saving and reconstructing a mangled thumb is essential for the patient's future.
Case Presentation: This case report describes the management of a severe occupational thumb injury in a 25-year-old white Persian male who sustained an occupational injury to his left thumb, resulting in extensive burn, crush injury to the distal and proximal phalanx, and severe soft tissue damage to the first metacarpal, thenar, and palmar areas.
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