A novel variant in a Chinese boy with glycogen storage diseases type IXa.

Background: Glycogen storage diseases (GSDs) are a group of heterogeneous inherited metabolic disorders with an incidence of 4%-5%. There are 19 types of GSDs, making diagnosis one of the greatest challenges.

Methods: The proband and his parents were referred to our hospital for genetic diagnosis.

Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the gene.

Background: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. The pathology of NDDs is complex. A recent study found that variants in the gene cause NDDs.

New trends in diagnosing and treating ovarian cancer using nanotechnology.

Ovarian cancer stands as the fifth most prevalent cancer among women, causing more mortalities than any other disease of the female reproductive system. There are numerous histological subtypes of ovarian cancer, each of which has distinct clinical characteristics, risk factors, cell origins, molecular compositions, and therapeutic options. Typically, it is identified at a late stage, and there is no efficient screening method.

Effectiveness of combination therapy with ISA101 vaccine for the treatment of human papillomavirus-induced cervical cancer.

Cervical cancer is one of the women-associated tumors that affects numerous people yearly. It is the fourth most common malignancy in women worldwide. Following early diagnosis, this cancer can be cured mainly by traditional methods such as surgery, tumor resection, and chemotherapy; nonetheless, it becomes more challenging to treat in advanced and metastatic stages.

Proteomics and bioinformatics analysis of cardiovascular related proteins in offspring exposed to gestational diabetes mellitus.

Introduction: Previous studies have demonstrated that exposed to the initial suboptimal intrauterine environment of gestational diabetes mellitus (GDM) may increase risk of cardiovascular disease in adulthood.

Methods: In order to investigate the underlying mechanisms involved in the increased risk of cardiovascular diseases (CVDs) in the offspring of GDM, we applied a high-throughput proteomics approach to compare the proteomic expression profile of human umbilical vessels of normal and GDM offspring.

Results: A total of significantly different 100 proteins were identified in umbilical vessels from GDM group compared with normal controls, among which 31 proteins were up-regulated, while 69 proteins were down-regulated.

Nanotechnological approaches for diagnosis and treatment of ovarian cancer: a review of recent trends.

Formulations from nanotechnology platform promote therapeutic drug delivery and offer various advantages such as biocompatibility, non-inflammatory effects, high therapeutic output, biodegradability, non-toxicity, and biocompatibility in comparison with free drug delivery. Due to inherent shortcomings of conventional drug delivery to cancerous tissues, alternative nanotechnological-based approaches have been developed for such ailments. Ovarian cancer is the leading gynecological cancer with higher mortality rates due to its reoccurrence and late diagnosis.

The challenge of selecting tumor antigens for chimeric antigen receptor T-cell therapy in ovarian cancer.

Ovarian cancer (OC) is one of the most common cancers in women, with a high mortality rate and very few available and effective treatments. Evidence shows that immunotherapy in OC has not been very successful because immune checkpoint blockers have not achieved satisfactory clinical outcomes. On the other hand, as one of the effective treatment approaches, chimeric antigen receptor T-cell (CAR T-cell) therapy has gained a moral position, especially in blood malignancies.

The mA methyltransferase METTL3 promotes trophoblast cell invasion by regulating MYLK expression.

Introduction: The progression of placental diseases such as preeclampsia is closely related to trophoblast dysfunction. Recent studies indicated the dysregulation of N6-methyladenosine (mA) RNA modification in trophoblast disorders, while the function of METTL3, a methyltransferase of mA, in trophoblasts remains to be studied.

Methods: The expression of METTL3 was determined by real-time PCR and immunoblotting.

Role of Cancer-Associated fibroblast in the pathogenesis of ovarian Cancer: Focus on the latest therapeutic approaches.

Ovarian cancer (OC) is the seventh most common malignancy in women globally. This type of cancer can occur at any age, but it is more frequent in women over 50 and is usually diagnosed late. Despite platinum-based chemotherapy and optimal cytoreductive surgery, OC cells tend to metastasize, and patients with OC experience recurrent relapses and poor prognosis.

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the Gene: A Case Report.

Fetal congenital heart disease (CHD) is the most common congenital defect, with an incidence of 0.6-0.8%, accounting for 30-50% of infant congenital disease deaths.

Resistance to the Insulin and Elevated Level of Androgen: A Major Cause of Polycystic Ovary Syndrome.

PCOS has a wide range of negative impacts on women's health and is one of the most frequent reproductive systemic endocrine disorders. PCOS has complex characteristics and symptom heterogeneity due to the several pathways that are involved in the infection and the absence of a comm14on cause. A recent study has shown that the main etiology and endocrine aspects of PCOS are the increased level of androgen, which is also known as "hyperandrogenemia (HA)" and secondly the "insulin resistance (IR)".

Proteomic and functional analysis of proteins related to embryonic development of decidua in patients with recurrent pregnancy loss†.

Recurrent pregnancy loss (RPL) is defined as the loss of two or more consecutive pregnancies before the 20 weeks of gestation. RPL affects about 1-2% of couples trying to conceive; however, the mechanisms leading to this complication are largely unknown. Our previous studies using comparative proteomics identified 314 differentially expressed proteins (DEPs) in the placental villous.

High throughput microRNAs sequencing profile of serum exosomes in women with and without polycystic ovarian syndrome.

Background: Polycystic ovary syndrome (PCOS) is the most common type of endocrine disorder, affecting 5-11% of women of reproductive age worldwide. microRNAs (miRNAs) stably exist in circulating blood encapsulated in extracellular vesicles such as exosomes; therefore, serum miRNAs have the potential to serve as novel PCOS biomarkers.

Methods: To identify miRNA biomarkers that are associated with PCOS, we performed a comprehensive sequence-based characterization of the PCOS serum miRNA landscape.

Study on the Similarity of Biomechanical Behavior between Gelatin and Porcine Liver.

As a natural polymer, gelatin is increasingly being used as a substitute for animals or humans for the simulation and testing of surgical procedures. In the current study, the similarity verification was neglected and a 10 wt.% or 20 wt.

Alteration of vaginal microbiota in patients with unexplained recurrent miscarriage.

The way in which a balanced vaginal microbiome helps prevent gynecological diseases in women and maintain health remains to be fully elucidated. In the present study, the potential effect of aberrations in the vaginal flora on unexplained recurrent miscarriage (RM) was investigated. The vaginal bacterial communities of 10 patients with unexplained RM and 10 healthy volunteers were sampled and subjected to sequencing analysis of the V3-V4 regions of the bacterial 16S ribosomal RNA gene using the Illumina MiSeq platform.

Proteomics of Uterosacral Ligament Connective Tissue from Women with and without Pelvic Organ Prolapse.

Purpose: Damage to the uterosacral ligaments is an important contributor to uterine and vaginal prolapse. The aim of this study is to identify differentially expressed proteins (DEPs) in the uterosacral ligaments of women with and without pelvic organ prolapse (POP) and analyze their relationships to cellular mechanisms involved in the pathogenesis of POP.

Experimental Design: Uterosacral ligament connective tissue from four patients with POP and four control women undergo iTRAQ analysis followed by ingenuity pathway analysis (IPA) of DEPs.

Ventilation system arrangement in large cross-section tunnels：a CFD simulation based on direct initial concentration assessment.

The dust removal efficiency is essential for safety protection in tunnels. For the cutting head working in a large cross-section tunnel, the extensive movement of the cutting head and large drift space decrease the accuracy of deduced initial dust concentrations. To ascertain the initial dust concentration, cutting models were employed.

Proteomics and bioinformatics analysis of altered protein expression in the placental villous tissue from early recurrent miscarriage patients.

Introduction: Recurrent miscarriage (RM) affects 5% of women, it has an adverse emotional impact on women. Because of the complexities of early development, the mechanism of recurrent miscarriage is still unclear. We hypothesized that abnormal placenta leads to early recurrent miscarriage (ERM).

RNAi-mediated blocking of ezrin reduces migration of ectopic endometrial cells in endometriosis.

Ezrin is a member of the ezrin-radixin-moesin (ERM) family of membrane-cytoskeletal linkage proteins. It is important for maintenance of cell shape, adhesion, migration and division. The overexpression of ezrin in some tumours is associated with increased cell migration that is mediated by the Rho/ROCK family of small GTPases.