399 results match your criteria: "West China Second University Hospital of Sichuan University[Affiliation]"

Background: Neonatal cyanosis is a clinical manifestation of hypoxemia and is usually pathological. Persistent right venous valve (PRVV) is a rare cause of cyanosis in newborns and can cause prenatal abnormalities, the clinical significance of which varies depending on the severity of the abnormality. There have been few reports on the intrauterine detection of these abnormalities and their follow-up during infancy.

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A couple was referred for prenatal counseling at the gestational age of 35 weeks of a male fetus (II-2) with sinus bradycardia and suspected first degree atrioventricular block with left ventricular noncompaction (LVNC). A previous pregnancy for the couple of a female fetus (II-1) was diagnosed prenatally as sinus bradycardia at the gestational age of 30 weeks. Both fetuses were confirmed to have long QT syndrome (LQTS) with LVNC after birth, and died of heart failure during infancy.

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A novel splicing mutation identified in a DMD patient: a case report.

Front Pediatr

November 2023

Department of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.

Article Synopsis
  • Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by progressive muscle weakness, primarily caused by mutations in the dystrophy gene.
  • A 4-year-old Chinese boy with DMD was studied using whole-exome sequencing, which revealed a new mutation inherited from his mother that disrupts normal gene splicing and affects the dystrophy protein.
  • This research not only identifies a novel mutation in the DMD gene but also aids in genetic diagnosis, facilitating early interventions and informing preimplantation genetic diagnosis for families.
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The endometrium is a unique human tissue with an extraordinary ability to undergo a hormone-regulated cycle encompassing shedding, bleeding, scarless repair, and regeneration throughout the female reproductive cycle. The cyclical repair and regeneration of the endometrium manifest as changes in endometrial epithelialization, glandular regeneration, and vascularization. The mechanisms encompass inflammation, coagulation, and fibrinolytic system balance.

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GlycoTCFM: Glycoproteomics Based on Two Complementary Fragmentation Methods Reveals Distinctive O-Glycosylation in Human Sperm and Seminal Plasma.

J Proteome Res

December 2023

Department of Nephrology and Institutes for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu 610041, China.

Human semen, consisting of spermatozoa (sperm) and seminal plasma, represents a special clinical sample type in human body fluid. Protein glycosylation in sperm and seminal plasma plays key roles in spermatogenesis, maturation, capacitation, sperm-egg recognition, motility of sperm, and fertilization. In this study, we profiled the most comprehensive O-glycoproteome map of human sperm and seminal plasma using our recently presented Glycoproteomics based on Two Complementary Fragmentation Methods (GlycoTCFM).

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Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Elife

November 2023

Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.

Article Synopsis
  • * Researchers discovered homozygous variants linked to the condition in four unrelated patients, which disrupted the localization of certain proteins essential for sperm flagellum function.
  • * The study identified ZMYND12 as a new gene associated with asthenoteratozoospermia, which forms a complex with other proteins critical for sperm motility, affecting male fertility.
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Primary ovarian malignant melanoma.

Asian J Surg

January 2024

The Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, Sichuan, 610041, China; Key laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, China. Electronic address:

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Single-cell profiling reveals immune disturbances landscape and HLA-F-mediated immune tolerance at the maternal-fetal interface in preeclampsia.

Front Immunol

November 2023

Department of Obstetrics and Gynecology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology, Chengdu, China.

Background: Preeclampsia is a pregnancy-specific disorder that always causes maternal and fetal serious adverse outcome. Disturbances in maternal immune tolerance to embryo at the maternal-fetal interface (MFI) may be associated with preeclampsia onset. Recent studies have revealed the reduced expression pattern of HLA-F at the MFI in preeclampsia, while the mechanism of it mediating maternal fetal immune tolerance has not been revealed.

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Involvement of IL-1β-Mediated Necroptosis in Neurodevelopment Impairment after Neonatal Sepsis in Rats.

Int J Mol Sci

September 2023

Department of Anesthesiology and Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital of Sichuan University, Chengdu 610041, China.

The mechanism of long-term cognitive impairment after neonatal sepsis remains poorly understood, although long-lasting neuroinflammation has been considered the primary contributor. Necroptosis is actively involved in the inflammatory process, and in this study, we aimed to determine whether neonatal sepsis-induced long-term cognitive impairment was associated with activation of necroptosis. Rat pups on postnatal day 3 (P3) received intraperitoneal injections of lipopolysaccharide (LPS, 1 mg/kg) to induce neonatal sepsis.

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Objective: To investigate the application value of different dose of HPV vaccine in young females.

Data Sources: The following databases were searched: Cochrane Library, PubMed, Embase, Web of Science, SINOMED, and Wanfang Data, from the establishment of the database to August 1st, 2022.

Study Eligibility Criteria: The inclusion criterias were: healthy young women younger than 25 years old as the research object, randomized controlled study as the research type, and the efficacy and safety of single-dose, two-dose or three-dose HPV vaccines as the intervention measures and research endpoints.

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[Diagnosis status and genetic characteristics analysis of Fanconi anemia in China].

Zhonghua Er Ke Za Zhi

October 2023

Department of Hematology and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups.

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Prophylactic intravenous norepinephrine for the prevention of hypotension during spinal anesthesia for elective cesarean section: a systematic review and dose-response meta-analysis of randomized controlled trials.

Front Pharmacol

September 2023

Department of Anesthesiology and Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital of Sichuan University, Sichuan University, Chengdu, China.

In this study, we aimed to evaluate the potential dose-response relationship between prophylactic norepinephrine (NE) infusion rates and the risks of hypotension during cesarean section following spinal anesthesia. Randomized controlled trials with two or more NE doses for post-spinal hypotension prophylaxis during cesarean section were systematically searched in the MEDLINE, Embase, Web of Science, Cochrane Central Register of Controlled Trials, and US Clinical Trials Registry databases until 31 July 2022. The primary outcome was the relative risk of maternal hypotension with different NE regimens (infusion rates or bolus doses).

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Patients with Idiopathic non-obstructive azoospermia (iNOA) can achieve fertility by extracting testicular sperm through microdissection testicular sperm extraction (mTESE). But more than half of iNOA patients still cannot benefit from mTESE. In recent years, some studies had reported that serum hormones may be related to the outcome of sperm retrieval, but few had been verified.

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Objective: To assess the pregnancy outcomes and associated influencing factors of pregnancy after hysteroscopy combined with laparoscopy treatment in infertile patients with minimal/mild endometriosis.

Design: A retrospective study.

Setting: West China Second University Hospital of Sichuan University.

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Endometrial neuroendocrine carcinoma: An analysis for 5 cases and literature review.

Asian J Surg

December 2023

Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. Electronic address:

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Unlabelled: This study utilized deep learning to classify osteoporosis and predict bone density using opportunistic CT scans and independently tested the models on data from different hospitals and equipment. Results showed high accuracy and strong correlation with QCT results, showing promise for expanding osteoporosis screening and reducing unnecessary radiation and costs.

Purpose: To explore the feasibility of using deep learning to establish a model for osteoporosis classification and bone density value prediction based on opportunistic CT scans and to verify its generalization and diagnostic ability using an independent test set.

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Objectives: Identification of endometrial cancers (EC) with mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H) is essential for Lynch syndrome screening and treatment stratification. We aimed to assess the utility of immunohistochemistry (IHC) staining for MMR protein expression and polymerase chain reaction (PCR)-based MSI assays in EC and the correlation between MMR/MSI status and various clinicopathological parameters.

Methods: We reviewed the clinical and pathological information of 333 patients with EC.

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Non-surgical treatment of vulvar Paget disease.

Asian J Surg

December 2023

Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. Electronic address:

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Sperm quality decline associated with gaseous pollutant exposure: Evidence from a large cohort multicenter study.

J Hazard Mater

October 2023

National Health Commission Key Laboratory of Male Reproduction and Genetics, Guangzhou, China; Department of Andrology, Guangdong Provincial Reproductive Science Institute (Guangdong Provincial Fertility Hospital), China. Electronic address:

Background: Poor sperm quality is a prevalent cause of male infertility, and the association between gaseous ambient air pollutants exposure and semen quality remains unclear.

Objectives: To examine the relationship between gaseous air pollution exposure with semen quality in a large-scale and multi-center study.

Methods: We analyzed 78,952 samples corresponding to 33,234 study subjects from 2014 to 2020.

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Exposure to Fine Particulate Matter Constituents and Human Semen Quality Decline: A Multicenter Study.

Environ Sci Technol

September 2023

National Health Commission Key Laboratory of Male Reproduction and Genetics, Guangzhou 510600, China.

Exposure to fine particulate matter (PM < 2.5 μm in diameter [PM]) may accelerate human sperm quality decline, although research on this association is limited. Our objective was to investigate the relationship between exposure to the chemical constituents of PM air pollution and decreased sperm quality and to further explore the exposure-response relationship.

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There has been a global decline in fertility rates, with ovulatory disorders emerging as the leading cause, contributing to a global lifetime infertility prevalence of 17.5%. Formation of the primordial follicle pool during early and further development of oocytes after puberty is crucial in determining female fertility and reproductive quality.

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Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.

BMC Pregnancy Childbirth

August 2023

Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.

Background: Standard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities.

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We describe a fetus from a Chinese family whose parents were both healthy but showed multiple malformations, including clubfoot, camptodactyly, micrognathia, and cleft palate. Genomic DNA was extracted from the peripheral blood of the proband's parents and skeletal muscle tissue from the aborted fetus to determine the diagnosis and underlying cause. Whole-exome sequencing revealed that the fetus was heterozygous for a novel variant of uncertain significance in exon 56 (c.

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Purpose: Low-dose radiotherapy (LDRT) may enhance the synergistic antitumor effect of combined immunotherapy and stereotactic body radiotherapy (SBRT). The safety and efficacy of this novel triple-combination therapy were evaluated for the first time as first-line treatment for patients with metastatic non-small cell lung cancer (NSCLC).

Patients And Methods: This prospective phase I study enrolled 29 patients and included a dose-escalation and dose-expansion phase.

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