Wenyan Huang

Clinical phenotypic and genotypic analysis of Gitelman syndrome in children

Xing-yu Yu, Yao Zhe-feng, Li-ning Zhang, Xinyu Kuang et autres

Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy caused by SLC12A3 variants, leading to hypokalemic metabolic alkalosis and other electrolyte disturbances. This study aimed to investigate the genotype and clinical phenotype in pediatric patients with GS. This study consisted of a …

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Tubule-Specific RGC-32 Knockout Exhibits Direct and Progressive Aggravating Activity Against Renal Function in an Ischemia–Reperfusion Mouse Model

Yan Gong, Dan Feng, Jing Zhang, Mengying Li et autres

Although the prevalence of acute kidney injury and chronic kidney disease remains high and effective therapeutic targets remain scarce, significant progress has been made in recent years across the following major directions: G2/M phase cell cycle arrest, DNA damage, mitochondrial dysfunction, hypoxia-inducible …

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From Undifferentiated Connective Tissue Disease to Common Variable Immunodeficiency: A Novel NFKB1 Mutation in a Pediatric Case

Yujie Hu, Sheng Hao, Dan Feng, Bingxue Huang et autres

Common variable immunodeficiency (CVID) may initially manifest as undifferentiated connective tissue disease (UCTD) in the absence of recurrent infections or hypogammaglobulinemia. In patients presenting with warning signs, neither older age nor normal immunoglobulin levels should preclude consideration of CVID; early genetic testing …

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Remission of Nephrotic Proteinuria after Liver Transplantation in a Case of Abernethy Malformation Type Ib and Membranoproliferative Glomerulonephritis

Anna Shen, Weihua Zheng, Wenyan Huang, Yun Cui et autres

Abernethy malformation is a rare congenital vascular anomaly defined by the absence or severe hypoplasia of the portal vein, resulting in portosystemic shunting. The metabolic and immunologic consequences such as hepatic encephalopathy and pulmonary complications are well recognized. However, renal involvement of …

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Global trends and emerging research hotspots in Alport syndrome: a comprehensive bibliometric analysis (1961–2024)

Weihua Zheng, Ying Wu, Guanghua Zhu, Wenyan Huang et autres

Background: Alport syndrome is a hereditary kidney disorder with multisystem involvement. This study aims to explore global research trends, collaboration networks, and emerging hotspots in the field of Alport syndrome using a bibliometric approach. Methods: A comprehensive literature search was conducted in …

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A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review

Lei Sun, Xinyu Kuang, Yan Wu, Wenyan Huang

Background/Objectives: Fibronectin glomerulopathy (FNG) is a rare autosomal dominant inherited kidney disease. Approximately 40% of genetically confirmed FNG cases are associated with likely pathogenic variants in FN1. Patients with FNG have similar clinical features as those with chronic nephritis. Due to nonspecific …

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Evidence-Based Guidelines for the Diagnosis and Treatment of Pediatric CKD-Mineral and Bone Disorder (Version 2024)

Meng Wang, Hua-Ying Xiong, Chunhua Zhu, Xinyi Yu et autres

Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) in children refers to the systemic mineral and bone metabolism disorders caused by CKD, including biochemical abnormalities, abnormalities in bone turnover, mineralization, quality, and ectopic calcification. Like the adult patients, mineral metabolism and bone structure …

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Successful treatment of primary mediastinal malignant germ cell tumor with multiple systemic metastases in children using multi-drug combination chemotherapy: a rare case report

Yang-Yang Jiao, Yanhua Li, X. LIAO, J B Shao et autres

Primary mediastinal malignant germ cell tumors (PMMGCTs) in children are highly aggressive and associated with a poor prognosis. We herein report the case of a male pediatric patient who presented with a large mediastinal mass and extensive metastases to the lungs, brain, …

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Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome

Yue Cai, Yingqi Lin, Xinyu Kuang, Lei Sun et autres

Objectives Alport syndrome (AS) is an inherited kidney disorder caused by pathogenic variants in COL4A3 , COL4A4 , or COL4A5 . In this study, we aim to apply a split-luciferase bioluminescence assay to functionally assess COL4A3 , COL4A4 , or COL4A5 variants …

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Clinical phenotypic and genotypic analysis of Gitelman syndrome in children

Lining Zhang, Xinyu Kuang, Lei Sun, Wenyan Huang

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The efficacy of cognitive behavioral therapy for suicidal ideation in depression:a systematic review and network meta-analysis of randomized clinical trials

Wenyan Huang, Qun Pan, Hui Ma, Lina Na et autres

Background: Suicidal ideation exhibits a strong correlation with mortality rates among individuals diagnosed with depression. Cognitive behavioral therapy (CBT) may exert an influence on suicide-related outcomes in patients with depression. We examined the impact of CBT on suicidal ideation and depressive symptoms …

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Ecotourism and economic sustainable development of local communities from the lens of technological innovation: the synergistic role of green industry and social capital

Luqing Yan, Leong-Mow Gooi, Wenyan Huang, Xiaoqing Wang

Based on provincial panel data from China spanning 2012 to 2022, this study employs the propensity score matching method to effectively address potential endogeneity concerns. A two-way fixed effects model is further applied to systematically examine the impact mechanism of ecotourism on …

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