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Total 112 results found since Jan 2013.

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
ConclusionThis is the first report of a de novo, autosomal dominant pattern ofFOXJ1 causing PCD combined with hydrocephalus in China. The patient's clinical symptoms were similar to those previously reported. WES confirmed that a novel variant ofFOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition. Physicians should be aware of the correlation of hydrocephalus and PCD and test forFOXJ1 variants.
Source: Molecular Genetics & Genomic Medicine - July 20, 2023 Category: Genetics & Stem Cells Authors: Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru ‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang Tags: CLINICAL REPORT Source Type: research

Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus
This study emphasizes the importance of ultrasonic manifestation and family history of fetal hydrocephalus for L1CAM diagnosis. Our study expands the genotypes of L1CAM and aids the genetic counseling of fetal hydrocephalus and even preimplantation genetic testing for the monogenic disorder.
Source: Frontiers in Genetics - April 29, 2022 Category: Genetics & Stem Cells Source Type: research

Management of hydrocephalus associated with autoimmune diseases: a series of 19 cases.
CONCLUSIONS: VPS along with corticosteroids and immunosuppressants represents an effective treatment approach for patients who suffer from hydrocephalus associated with autoimmune diseases. PMID: 28686532 [PubMed - as supplied by publisher]
Source: Autoimmunity - July 9, 2017 Category: Allergy & Immunology Tags: Autoimmunity Source Type: research

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
CONCLUSION: This is the first report of a de novo, autosomal dominant pattern of FOXJ1 causing PCD combined with hydrocephalus in China. The patient's clinical symptoms were similar to those previously reported. WES confirmed that a novel variant of FOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition. Physicians should be aware of the correlation of hydrocephalus and PCD and test for FOXJ1 variants.PMID:37469238 | DOI:10.1002/mgg3.2235
Source: Molecular Medicine - July 20, 2023 Category: Molecular Biology Authors: Shiyang Gao Qianwen Zhang Biyun Feng Shili Gu Zhiying Li Lianping Sun Ru-En Yao Tingting Yu Yu Ding Xiumin Wang Source Type: research

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
ConclusionThe present study expands the mutation spectrum ofWDR81 and help further define the genotype –phenotype correlations of HYC3.WDR81‐related HYC3 were highly clinical heterogeneity. We suggested that fetal hydrocephalus with extracerebral manifestations may be suggestive ofWDR81 deficiency and WES is effective for achieving a conclusive diagnosis for disorder.
Source: Molecular Genetics & Genomic Medicine - March 16, 2021 Category: Genetics & Stem Cells Authors: Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin Tags: ORIGINAL ARTICLE Source Type: research

Third ventricle floor bowing: a useful measurement to predict endoscopic third ventriculostomy success in infantile hydrocephalus
ConclusionsOur study suggests TVFB can serve as a useful method for selecting ETV candidates in infantile hydrocephalus preoperatively. And we speculate that good ventricle compliance and pressure difference between the ventricle and subarachnoid space are essential elements in ensuring ETV success.
Source: Acta Neurochirurgica - December 1, 2019 Category: Neurosurgery Source Type: research

One-year outcome of patients with posttraumatic hydrocephalus treated by lumboperitoneal shunt: an observational study from China
ConclusionTo sum up, we have, for the first time, demonstrated that LPS could be a potential option to treat PTH.
Source: Acta Neurochirurgica - August 14, 2018 Category: Neurosurgery Source Type: research

Endoscopic third ventriculostomy and ventriculoperitoneal shunt for patients with noncommunicating hydrocephalus: A PRISMA-compliant meta-analysis
Background: The surgical methods of endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunt (VS) for patients with noncommunicating hydrocephalus have rapidly increased in the past 2 decades. However, there is controversy regarding the efficacy and safety of these 2 surgical methods for noncommunicating hydrocephalus. The purpose of this study was to identify whether ETV is safer and more efficacious than VS for patients with noncommunicating hydrocephalus. Methods: We performed electronic searches in PubMed, Embase, China National Knowledge Internet, and the Cochrane Library to identify studies publishe...
Source: Medicine - October 1, 2018 Category: Internal Medicine Tags: Research Article: Systematic Review and Meta-Analysis Source Type: research

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. In the present study, we describe a novel silent L1CAM mutation in a Chinese pregnant woman reporting continuous five times pregnancies with fetal hydrocephalus. After fetal blood sampling, we found c.453G > T (p.Gly151 = ) in the L1CAM gene of the fetus by WES; RT-PCR of the ...
Source: Frontiers in Genetics - September 10, 2019 Category: Genetics & Stem Cells Source Type: research

Shunting outcomes in communicating hydrocephalus: protocol for a multicentre, open-label, randomised controlled trial
Introduction Ventriculoperitoneal shunt (VPS) remains the most widely used methods to treat communicating hydrocephalus. More recently, lumboperitoneal shunt (LPS) has been suggested as a reasonable option in some studies. However, there is lack of high-quality studies comparing these two techniques in order to certain the benefits and harms to use one of these two methods. The purpose of the current study is to determine the effectiveness and safety of the LPS versus the VPS in patients with communicating hydrocephalus. Methods and analysis All eligible patients aged 18–90 years with communicating hydrocephalus wil...
Source: BMJ Open - August 26, 2021 Category: General Medicine Authors: Sun, T., Cui, W., Yang, J., Yuan, Y., Li, X., Yu, H., Zhou, Y., You, C., Guan, J. Tags: Open access, Neurology Source Type: research

Old age and hydrocephalus are associated with poor prognosis in patients with tuberculous meningitis: A retrospective study in a Chinese adult population
In conclusion, old age and hydrocephalus are the predictors for poor prognosis of TBM. Patients with these risk factors should be treated promptly with a special care paid to improve their outcomes.
Source: Medicine - June 1, 2017 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Herbal medicine for hemorrhage-related hydrocephalus: A systematic review of randomised controlled trials.
CONCLUSION: Herbal medicine has potential benefits on improving ventriculomegaly and clinical signs and symptoms. However, a relatively small participants number and methodological limitations reduced the strength of the evidence. More rigorous trials are warranted. PMID: 30012386 [PubMed - in process]
Source: Complementary Therapies in Medicine - July 18, 2018 Category: Complementary Medicine Authors: Park B, Hong SC, Park SW, Yi CS, Ha YK, Choi DJ Tags: Complement Ther Med Source Type: research

NLRP3-dependent lipid droplet formation contributes to posthemorrhagic hydrocephalus by increasing the permeability of the blood–cerebrospinal fluid barrier in the choroid plexus
Experimental & Molecular Medicine, Published online: 03 March 2023; doi:10.1038/s12276-023-00955-9Inhibiting a key inflammatory protein and thereby protecting the blood-brain barrier following brain hemorrhage may prevent the build-up of fluid on the brain (hydrocephalus). Using rat models and cell cultures, Yujie Chen and Hua Feng at the Third Military Medical University in Chongqing, China, and co-workers examined how posthemorrhagic hydrocephalus occurs. They found that the acute inflammatory response activated immediately after a brain hemorrhage, which is driven by a critical protein complex involved in innate imm...
Source: Experimental and Molecular Medicine - March 3, 2023 Category: Molecular Biology Authors: Zhaoqi Zhang Peiwen Guo Liang Liang Shiju Jila Xufang Ru Qiang Zhang Jingyu Chen Zhi Chen Hua Feng Yujie Chen Source Type: research