25 results match your criteria: "Affiliated Women and Children's Hospital of Ningbo University[Affiliation]"

Background: Propofol injection pain (PIP) is a frequent adverse effect during anesthesia induction, impacting patient comfort and satisfaction. Esketamine has been shown to alleviate PIP, but the optimal dose, especially in relation to preoperative anxiety levels, remains unclear. Preoperative anxiety may heighten pain perception and influence analgesic requirements.

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[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

December 2024

Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.

Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).

Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.

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Article Synopsis
  • Syndromic hearing loss (SHL) involves diverse genetic causes, with over 400 types identified, primarily following an autosomal dominant inheritance pattern.
  • A study analyzed 14 patients (ages 5-78 months) with various syndromes associated with SHL, discovering ten new genetic variants and confirming cases of well-known syndromes like Waardenburg and CHARGE.
  • Results suggest that combining neonatal hearing screenings with whole exome sequencing can effectively diagnose SHL early, highlighting the need for thorough monitoring of patients due to the complexity and variability of SHL symptoms.
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The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q, Q)] of 22 (10, 32) months.

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Background: Weiss-Kruszka syndrome (WSKA) is a rare autosomal dominant syndrome characterized by multiple congenital anomalies caused by variants in the zinc finger protein 462 gene (ZNF462). About 40 cases of Weiss-Kruszka syndrome have been reported worldwide, and the aim of this study was to investigate the genetic causes of three patients from two Weiss-Kruszka syndrome family pedigrees with the aim of accumulating more data on the disease.

Objective: To explore the clinical and genetic characteristics of two pedigrees with Weiss-Kruszka syndrome.

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Background: Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy of all or part of chromosome 21. It is characterized by significant intellectual disability, distinct facial features, and growth and developmental challenges. The utilization of metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools and screening methods for investigating the early pathophysiology of trisomy 21 at the functional level.

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Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.

Clin Immunol

December 2024

The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China; Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China; Ningbo Key Laboratory of Genomic Medicine and Birth Defects Prevention, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China. Electronic address:

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease characterised by early onset stroke, recurrent fever, and diverse vascular pathologies, caused by loss-of-function homozygous or compound heterozygous variants of ADA2. This research aimed to determine the carrier frequency and expected incidence of DADA2 in China, using massive exome sequencing (ES) data. A total of 50 likely pathogenic/pathogenic variants (LP/PVs) were identified among 69,413 Chinese individuals, including 20 novel and rare variants (<0.

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Transfer RNA-derived small RNAs (tsRNAs) are a newly recognized class of small non-coding RNAs that are implicated in a variety of cancers, including head and neck tumors. Studies have identified tsRNAs with differential expression profiles in head and neck malignancies, highlighting their potential as biomarkers for diagnosis and prognosis. Functional analyses show that tsRNAs are involved in regulating critical cellular pathways, including those related to cell proliferation, migration, and metabolic processes.

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Article Synopsis
  • * The study introduces a new detection system called NASBA-Cas12a, which combines nucleic acid amplification with CRISPR technology, successfully identifying rotavirus A within 70 minutes at a temperature of 37°C, with high accuracy.
  • * The NASBA-Cas12a system showed 100% sensitivity and a kappa value of 0.933, indicating its reliability compared to traditional methods, suggesting it could be a valuable tool in clinical settings for early diagnosis and treatment.
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Cervical cancer (CC) poses a threat to human health. Enhancing pyroptosis can prevent the proliferation and epithelial-mesenchymal transition (EMT) of tumor cells. This study aims to reveal the candidates that modulate pyroptosis in CC.

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BRD4 absence inactivates endoplasmic reticulum stress to retard dehydroepiandrosterone-triggered ovarian granular cell apoptosis in polycystic ovary syndrome via GRP78.

Tissue Cell

December 2024

Department of gynaecology and obstetrics, Shanghai East Hospital, Tongji University, School of Medicine, Shanghai 200120, China. Electronic address:

Polycystic ovary syndrome (PCOS) is a hormonal disorder and significantly affects reproductive and metabolic function. Bromodomain-containing protein 4 (BRD4) is reported to promote ovarian fibrosis in PCOS. The present work was conducted to investigate the detailed role of BRD4 and the corresponding functional mechanism in PCOS.

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Article Synopsis
  • Mucopolysaccharidosis type I (MPS-I) is a genetic disorder caused by mutations in the IDUA gene, and this study aimed to investigate the genetic causes of MPS-I in a Chinese patient while creating a minigene for variant analysis.* -
  • The research utilized whole-exome sequencing and Sanger sequencing to identify a novel splicing mutation in the IDUA gene, associated with paternal uniparental disomy (UPD) on chromosome 4, revealing important insights into the genetic transmission of the disorder.* -
  • The study found that the mutation led to abnormal splicing events in mRNA, altering the protein structure, which expands the understanding of IDUA variants and may help improve
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A tongue soft-tissue neoplasm with a PTCH1-GLI1 fusion.

Asian J Surg

September 2024

Surgery Center, The Affiliated People's Hospital of Ningbo University, No.251, Baizhang East Road, Yinzhou District, Ningbo, 315040, PR China. Electronic address:

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Objectives: Posterior cervical myoma poses a challenge for gynecologic surgeons, especially in women who want to preserve their fertility. The objective of this study is to summarize our experience with and strategy for this difficult situation.

Methods: Between July 2019 and June 2021, 13 patients with posterior cervical myoma underwent laparoscopic myomectomy in our department.

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Objective: To assess the safety and efficacy of barbed suture laparoscopic myomectomy for large posterior myoma compared to conventional suture.

Study Design: Descriptive study.

Place And Duration Of Study: Department of Gynecology, Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China between July 2019 and June 2020.

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Objective: To evaluate the feasibility and surgical outcome of the modified method of cervical conization with hybrid use of a cold knife and an electric knife.

Methods: A retrospective analysis of cervical conization for high-grade squamous intraepithelial lesions was performed between January 2020 and December 2020. Traditional cold knife conization and modified conization were used.

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Laparoscopic Management of Didelphys Uterus with a Chronically Inversed Right Uteri.

J Minim Invasive Gynecol

August 2019

From the Department of Gynecology, Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, People's Republic of China (all authors).. Electronic address:

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