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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 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 PDFLong read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Dabie bandavirus and Mycoplasma pneumoniae co-infection: a case report.
BMC Infect Dis
January 2025
Jiangxi Medical Center for Critical Public Health Events, Department of Infectious Diseases, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.17 Yongwai Street, Donghu District, Nanchang, 330006, Jiangxi Province, China.
Background: Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by Dabie bandavirus (DBV). We report a case of DBV and Mycoplasma pneumoniae (MP) co-infection.
Case Presentation: Here we reported a 57-year-old healthy male who was admitted with the presentations of fever, cough, hemoptysis, and hypotension.
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