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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).
Exercise limitation in chronic kidney disease: An experimental pilot study with leg and arm exercise.
Physiol Rep
January 2025
Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
Maximal oxygen uptake (VOmax) in healthy subjects is primarily limited by systemic oxygen delivery. In chronic kidney disease (CKD), VOmax is potentially reduced by both central and peripheral factors. We aimed to investigate the effect on VOpeak of adding arm exercise to leg exercise.
View Article and Find Full Text PDFPredictive value of dendritic cell-related genes for prognosis and immunotherapy response in lung adenocarcinoma.
Cancer Cell Int
January 2025
Department of Immuno-Oncology, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, 510080, China.
Background: Patients with lung adenocarcinoma (LUAD) receiving drug treatment often have an unpredictive response and there is a lack of effective methods to predict treatment outcome for patients. Dendritic cells (DCs) play a significant role in the tumor microenvironment and the DCs-related gene signature may be used to predict treatment outcome. Here, we screened for DC-related genes to construct a prognostic signature to predict prognosis and response to immunotherapy in LUAD patients.
View Article and Find Full Text PDFAssociation of relative fat mass with asthma: inflammatory markers as potential mediators.
Lipids Health Dis
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, Sichuan Province, 610041, China.
Background: This study aimed to investigate the association between relative fat mass (RFM) and asthma, as well as to explore the mediating role of Systemic Immune-Inflammation Index (SII) and Systemic Inflammation Response Index (SIRI).
Methods: This cross-sectional study utilized data from the National Health and Nutrition Examination Survey from 2007 to 2018. Associations between RFM and asthma were tested using multivariable logistic regressions, restricted cubic splines, subgroup analyses, and interaction tests, with mediation analysis for SII and SIRI.
Effect of feedback-integrated reflection, on deep learning of undergraduate medical students in a clinical setting.
BMC Med Educ
January 2025
Riphah international university, Rawalpindi, Pakistan.
Background: Reflection fosters self-regulated learning by enabling learners to critically evaluate their performance, identify gaps, and make plans to improve. Feedback, in turn, provides external insights that complement reflection, helping learners recognize their strengths and weaknesses, adjust their learning strategies, and enhance clinical reasoning and decision-making skills. However, reflection alone may not produce the desirable effects unless coupled with feedback.
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