The recent death of teenager Jesse Gelsinger in a drug therapy trial has drawn attention to how financial conflicts of interest may compromise patient protection. While research institutions throughout the world have instituted a variety of conflict of interest guidelines, the potential conflicts associated with investigators receiving direct payment from private companies for both the recruitment of patients and the running of clinical trials in pharmaceutical research remains a relatively unexplored area. Clinical researchers undoubtedly deserve to be reasonably compensated for their participation. But these incentive mechanisms also have the potential to create conflicts of interest--both real and perceived.
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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
The impact of parental phubbing on social withdrawal in preschool children: the serial mediating roles of parent-child conflict and negative emotions.
BMC Psychol
January 2025
Faculty of Education, Northeast Normal University, Changchun, 130022, China.
Background: The positive association of parental phubbing with internalizing and externalizing problems among adolescents has gained academic traction. However, current researches on the negative impacts of parental phubbing have focused primarily on adolescents, with a noticeable lack of studies concerning preschool children, and there is also a deficiency in investigations from the perspective of the Risky Family Model. These gaps limit our understanding of how parental phubbing affects problem behaviors among preschool children.
View Article and Find Full Text PDFHuman PBMC-based humanized mice exhibit myositis features and serve as a drug evaluation model.
Inflamm Regen
January 2025
Oncology & Immunology Unit, Research Division, Mitsubishi Tanabe Pharma Corporation, Kanagawa, 227-0033, Japan.
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders characterized by immune cell infiltration of muscle tissue accompanied by inflammation. Treatment of IIMs is challenging, with few effective therapeutic options due to the lack of appropriate models that successfully recapitulate the features of IIMs observed in humans. In the present study, we demonstrate that immunodeficient mice transplanted with human peripheral blood mononuclear cells (hPBMCs) exhibit the key pathologic features of myositis observed in humans and develop graft-versus-host disease.
View Article and Find Full Text PDFRegulatory roles of eugenol in paraquat-altered SNCA/LZTS3/MAPT in the cerebellum of Wistar rats.
Lab Anim Res
January 2025
Anatomy Department, Faculty of Basic Medical Sciences, Alex Ekwueme, Federal University, Ndufu-Alike, Ebonyi State, Nigeria.
Background: The Microtubules-associated protein tau (MAPT), alpha-synuclein (SNCA), and leucine zipper tumor suppressor 3 (LZTS3) genes are implicated in neurodegeneration and tumor suppression, respectively. This study investigated the regulatory roles of eugenol on paraquat-altered genes.
Results: Forty male Wistar rats divided into five groups of eight rats were used.
Psychological impact and coping mechanisms among sudanese medical students: a study on anxiety, depression, behavioral, and cognitive changes post COVID-19 lockdown and ongoing conflict.
BMC Psychol
January 2025
Doud Research Group, Khartoum, Sudan.
Introduction: Mental health is crucial for overcoming obstacles, completing tasks, and contributing to society. Mental, social, and cognitive healths are included. In demanding fields like medicine, academic pressure can cause exhaustion, poor performance, and behavioral changes.
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