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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFEffects of COVID-19 on short-term outcomes of hip arthroplasty: a multicenter, retrospective, propensity score matched study.
BMC Musculoskelet Disord
January 2025
Department of Orthopedic Surgery, Chang Gung Memorial Hospital, Linkou, Taiwan.
Purpose: The Coronavirus Disease 2019 (COVID-19) pandemic delayed elective procedures such as total joint arthroplasty. As surgical volumes return to prepandemic levels, understanding the implications of COVID-19 becomes imperative. This study explored the effects of COVID-19 on the short-term outcomes of hip arthroplasty.
View Article and Find Full Text PDFEfficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study.
Orphanet J Rare Dis
January 2025
Department of Cardiac Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka, 564-8565, Japan.
Background: Transient receptor potential cation channel subfamily V member 2 (TRPV2) functions as a stretch-sensitive calcium channel, with overexpression in the sarcolemma of skeletal and cardiac myocytes leading to detrimental calcium influx and triggering muscle degeneration. In our previous pilot study, we showed that tranilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two patients with muscular dystrophy and advanced heart failure. Building on this, we performed a single-arm, open-label, multicenter study herein to evaluate the safety and efficacy of tranilast in the treatment of advanced heart failure in patients with muscular dystrophy.
View Article and Find Full Text PDFDiagnosis, treatment, and management of Mpox in urban Informal Settlements in Southwestern Nigeria: an ethnographic approach.
BMC Public Health
January 2025
Health & Nutrition Cluster, Institute of Development Studies, University of Sussex, Brighton, UK.
Background: Global re-emergence of the zoonotic viral disease, Mpox (Monkeypox) has drawn global attention, leading to its declaration as a Public Health Emergency of International Concern (PHEIC) by World Health Organisation (WHO) in July 2022. Nigeria is a spotlight identified for the viral disease outbreak, with attention drawn on its transmission to non-endemic nations. With the country's healthcare challenges, care seeking practices particularly amongst low-income urban informal settlement populations are diverse - presenting challenges to both case identification and management during an outbreak.
View Article and Find Full Text PDFMachine-learning-based cost prediction models for inpatients with mental disorders in China.
BMC Psychiatry
January 2025
Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Background: Mental disorders are increasingly prevalent, leading to increased medical expenditures. To refine the reimbursement of medical costs for inpatients with mental disorders by health insurance, an accurate prediction model is essential. Per-diem payment is a common internationally implemented payment method for medical insurance of inpatients with mental disorders, necessitating the exploration of advanced machine learning methods for predicting the average daily hospitalization costs (ADHC) based on the characteristics of inpatients with mental disorders.
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