Cargando…

VHL syndrome without clear family history: A rare case report and literature review of Chinese patients

OBJECTIVE: To analyze the clinical manifestations and imaging features of a hospitalized patient with intermittent headache who was finally diagnosed with von Hippel–Lindau (VHL) syndrome and to perform whole-exon gene detection to improve the understanding of the diagnosis and treatment strategies...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Yaheng, Xin, Xiaohong, Song, Wenzhu, Zhang, Xuan, Chen, Shengli, Wang, Qian, Li, Aizhong, Li, Yafeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618664/ https://www.ncbi.nlm.nih.gov/pubmed/36324386 http://dx.doi.org/10.3389/fneur.2022.951054

Ejemplares similares

Using random forest algorithm for glomerular and tubular injury diagnosis
por: Song, Wenzhu, et al.
Publicado: (2022)

Ornidazole-Induced Recurrent Encephalopathy in a Chinese Man: A Rare Case Report and Literature Review
por: Tang, Rong, et al.
Publicado: (2021)

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review
por: Zhong, Junfei, et al.
Publicado: (2020)

Von Hippel-Lindau (VHL) Inactivation in Sporadic Clear Cell Renal Cancer: Associations with Germline VHL Polymorphisms and Etiologic Risk Factors
por: Moore, Lee E., et al.
Publicado: (2011)

Landscape of intestinal microbiota in patients with IgA nephropathy, IgA vasculitis and Kawasaki disease
por: Hu, Xueli, et al.
Publicado: (2022)

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
por: Zhang, Xuan, et al.
Publicado: (2021)

Tumor heterogeneity in VHL drives metastasis in clear cell renal cell carcinoma
por: Hu, Junhui, et al.
Publicado: (2023)

SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family
por: Zhou, Qin, et al.
Publicado: (2021)

Molecular etiology study of hearing loss in 13 Chinese Han families
por: Sun, Lianhua, et al.
Publicado: (2022)

Dynamic epigenetic changes to VHL occur with sunitinib in metastatic clear cell renal cancer
por: Stewart, Grant D., et al.
Publicado: (2016)

Cytosine 5-hydroxymethylation regulates VHL gene expression in renal clear cell carcinoma
por: Ma, En-Guang, et al.
Publicado: (2017)

Kidney in VHL disease: Early clear cell proliferation occurs in the distal tubular system
por: Al-Gharaibeh, Nayef S., et al.
Publicado: (2022)

Identification and validation of the clinical roles of the VHL-related LncRNAs in clear cell renal cell carcinoma
por: Yang, Wuping, et al.
Publicado: (2021)

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
por: Yi, Fang, et al.
Publicado: (2018)

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
por: Wu, Xing, et al.
Publicado: (2018)

Machine Learning-Based Model for Prediction of Hemorrhage Transformation in Acute Ischemic Stroke After Alteplase
por: Xu, Yanan, et al.
Publicado: (2022)

Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance
por: Razafinjatovo, Caroline, et al.
Publicado: (2016)

Multi-Omics Profiling to Assess Signaling Changes upon VHL Restoration and Identify Putative VHL Substrates in Clear Cell Renal Cell Carcinoma Cell Lines
por: Wang, Xuechun, et al.
Publicado: (2022)

Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage
por: Liu, Xiaolu, et al.
Publicado: (2022)

VHL deficiency augments anthracycline sensitivity of clear cell renal cell carcinomas by down-regulating ALDH2
por: Gao, Yao-Hui, et al.
Publicado: (2017)

History of Hypertension Is Associated With MR Hypoperfusion in Chinese Inpatients With DWI-Negative TIA
por: Wang, Yue, et al.
Publicado: (2019)

Using Bayesian networks with Max-Min Hill-Climbing algorithm to detect factors related to multimorbidity
por: Song, Wenzhu, et al.
Publicado: (2022)

VHL inactivation without hypoxia is sufficient to achieve genome hypermethylation
por: Artemov, Artem V., et al.
Publicado: (2018)

Using Bayesian networks with Tabu-search algorithm to explore risk factors for hyperhomocysteinemia
por: Song, Wenzhu, et al.
Publicado: (2023)

Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families
por: Vocke, Cathy D., et al.
Publicado: (2021)

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
por: Xie, Yongzhi, et al.
Publicado: (2020)

Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment
por: Hu, Ying, et al.
Publicado: (2023)

Multiple ossified intracranial and spinal meningiomas: a rare case report and literature review
por: Wang, Jian, et al.
Publicado: (2023)

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature
por: Liu, Wenyu, et al.
Publicado: (2022)

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V
por: Yu, Xueying, et al.
Publicado: (2018)

Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family
por: Li, Mengmeng, et al.
Publicado: (2019)

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature
por: Chen, Yuchao, et al.
Publicado: (2022)

Deciphering von Hippel-Lindau (VHL/Vhl)-Associated Pancreatic Manifestations by Inactivating Vhl in Specific Pancreatic Cell Populations
por: Shen, H.-C. Jennifer, et al.
Publicado: (2009)

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family
por: Wu, Liwen, et al.
Publicado: (2021)

Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis
por: Dominguez, Jacqueline, et al.
Publicado: (2021)

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma
por: TAYLOR, CLAIRE, et al.
Publicado: (2012)

Clinical and genetic study of a Chinese family affected by both amyotrophic lateral sclerosis and autosomal dominant polycystic kidney disease
por: Li, Shirong, et al.
Publicado: (2022)

Multidrug Resistant Brain Abscess Due to Acinetobacter baumannii Ventriculitis Cleared by Intraventricular and Intravenous Tigecycline Therapy: A Case Report and Review of Literature
por: Long, Wenyong, et al.
Publicado: (2018)

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1
por: Wu, Xuan, et al.
Publicado: (2022)

Familial Idiopathic Intracranial Hypertension in Two Non-obese Chinese Sisters
por: Qiao, Lei, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_k7dl0q23tpcosdd6iah9823d4q