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Novel Allele HLA-B*52:130, Identified by Next-Generation Sequencing.
HLA
January 2025
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Moscow, Russia.
The new HLA-B*52:130 allele showed one nonsynonymous nucleotide difference compared to the HLA-B*52:01:01:01 allele in codon 170.
View Article and Find Full Text PDFRecurrent opportunistic infections in a HIV-negative patient with combined C6 and mutations: A case report, pedigree analysis, and literature review.
Open Med (Wars)
December 2024
Department of Pulmonary and Critical Care Medicine, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, Hainan, China.
Introduction: Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.
Case: Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 ().
Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.
Transl Pediatr
December 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.
View Article and Find Full Text PDFUnveiling novel biomarkers for platinum chemoresistance in ovarian cancer.
Open Med (Wars)
January 2025
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.
Primary chemoresistance to platinum-based treatment is observed in approximately 33% of individuals diagnosed with ovarian cancer; however, conventional clinical markers exhibit limited predictive value for chemoresistance. This study aimed to discover new genetic markers that can predict primary resistance to platinum-based chemotherapy. Through the analysis of three GEO datasets (GSE114206, GSE51373, and GSE63885) utilizing bioinformatics methodologies, we identified two specific genes, MFAP4 and EFEMP1.
View Article and Find Full Text PDFDiagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel Variant.
JCEM Case Rep
January 2025
Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.
Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (), which encodes a transcription factor, with multiple types of variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution.
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