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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 PDFMetagenomic analysis identifying a polymicrobial pulmonary infection in a non-HIV immunocompromised patient: a case report.
BMC Pulm Med
January 2025
Central Laboratory, Liaocheng People's Hospital and Liaocheng School of Clinical Medicine, Shandong First Medical University, Liaocheng, Shandong, 252000, China.
Background: Polymicrobial pulmonary infections, common in immunocompromised patients, often manifest more severe symptoms than monomicrobial infections. Clinical diagnosis delays may lead to mortality, emphasizing the importance of fast and accurate diagnosis for these patients. Metagenomic next-generation sequencing (mNGS), as an unbiased method capable of detecting all microbes, is a valuable tool to identify pathogens, particularly in cases where infections are difficult to diagnosis using conventional methods.
View Article and Find Full Text PDFAn improvement in visual acuity accompanied by the development of RPE tear: a case report.
BMC Ophthalmol
January 2025
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan, Dongcheng District, Beijing, 100730, China.
Background: Retinal pigment epithelium (RPE) tear is a well-known complication of RPE detachment and is typically associated with significant visual acuity decline. However, in this case, despite the occurrence of an RPE tear there was an unexpected improvement in visual acuity.
Case Presentation: A 68-year-old male presented with blurred vision in his right eye of a month's duration.
Development of Bayesian segmented Poisson regression model to forecast COVID-19 dynamics based on wastewater data: a case study in Nanning City, China.
BMC Public Health
January 2025
Department of Infectious Diseases, Nanning Center for Disease Control and Prevention, Nanning, 530023, China.
Introduction: COVID-19 has caused tremendous hardships and challenges around the globe. Due to the prevalence of asymptomatic and pre-symptomatic carriers, relying solely on disease testing to screen for infections is not entirely reliable, which may affect the accuracy of predictions about the pandemic trends. This study is dedicated to developing a predictive model aimed at estimating of the dynamics of COVID-19 at an early stage based on wastewater data, to assist in establishing an effective early warning system for disease control.
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.
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