Xicui Long
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View article: Global burden and between‐country inequalities in Turner syndrome from 1990 to 2021
Global burden and between‐country inequalities in Turner syndrome from 1990 to 2021 Open
Introduction Turner syndrome (TS) seriously impacts women's health and quality of life, yet research on its global burden remains limited. This study aimed to evaluate the burden and between‐country inequalities of TS using global populati…
View article: A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review
A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review Open
Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare and potentially life-threatening condition, often linked to dysregulation of the complement system. Case Presentation: In this study, a novel heterozygous CFB mutation was i…
View article: Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants Open
The diagnosis of PHARC syndrome is challenging because of its genetic heterogeneity. Therefore, exploring novel variants and establishing genotype-phenotype correlations can significantly enhance gene diagnosis and genetic counseling for t…
View article: A case report of CHARGE syndrome caused by a de novo <i>CHD7</i> gene mutation
A case report of CHARGE syndrome caused by a de novo <i>CHD7</i> gene mutation Open
This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the…
View article: Comparison of mood state in severe pelvic organ prolapse patients before and after surgery
Comparison of mood state in severe pelvic organ prolapse patients before and after surgery Open
Objective This study aimed to compare the mood state of patients with severe pelvic organ prolapse (POP) before and after surgery. Methods This prospective study enrolled 100 patients with severe POP who were surgically treated between Oct…
View article: Research Progress of HPV L1 Capsid Protein in Prediction of Cervical Lesions
Research Progress of HPV L1 Capsid Protein in Prediction of Cervical Lesions Open
Cervical cancer is one of the most common malignant gynecological tumors and has the second highest incidence of all malignancies in females. Chronic and persistent infection with High Risk Human Papillomavirus (HR-HPV) is the main cause o…