Pre-clinical study of IR808 dye for cervical cancer in vitro and in vivo imaging.

There is an urgent need for improved methods for early screening and rapid diagnosis of cervical cancer since current conventional screening methods are plagued by operator subjectivity and unnecessary biopsies. IR808 is a tumour-targeting near-infrared (NIR) fluorescent dye that permits NIR imaging without the requirement of chemical conjugation. Our study investigates an IR808-based strategy for real-time monitoring of the cervix in vivo and rapid assessment of cervical specimens in vitro.

Causal association of juvenile idiopathic arthritis or JIA-associated uveitis and gut microbiota: a bidirectional two-sample Mendelian randomisation study.

Background: The gut microbiota significantly influences the onset and progression of juvenile idiopathic arthritis (JIA) and associated uveitis (JIAU); however, the causality remains unclear. This study aims to establish a causal link between gut microbiota and JIA or JIAU.

Methods: Using publicly available genome-wide association studies (GAWS) summary data, we conducted a two-sample Mendelian randomisation (MR) analysis employing various methods, namely inverse variance weighted (IVW), simple mode, weighted mode, weighted median and MR-Egger regression methods, to assess the causal association between JIA or JIAU and gut microbiota.

Validation of a new kit for preeclampsia screening: A comprehensive analysis.

Objectives: Preeclampsia is a common pregnancy complication that significantly contributes to maternal mortality, perinatal mortality, and preterm delivery. The sFlt-1/PlGF (fms-like tyrosine kinase-1/placental growth factor) ratio has demonstrated robust diagnostic value for preeclampsia. This study assessed the analytical performance and diagnostic accuracy of a novel quantitative determination kit for sFlt-1 and PlGF for the diagnosis of preeclampsia.

Oteseconazole versus fluconazole for the treatment of severe vulvovaginal candidiasis: a multicenter, randomized, double-blinded, phase 3 trial.

Vulvovaginal candidiasis (VVC) is a common condition among women. Fluconazole remains the dominant treatment option for VVC. Oteseconazole is a highly selective inhibitor of fungal CYP51.

RBM24 controls cardiac QT interval through CaMKIIδ splicing.

Calcium/calmodulin-dependent kinase II delta (CaMKIIδ) is the predominant cardiac isoform and it is alternatively spliced to generate multiple variants. Variable variants allow for distinct localization and potentially different functions in the heart. Dysregulation of CaMKIIδ splicing has been demonstrated to be involved in the pathogenesis of heart diseases, such as cardiac hypertrophy, arrhythmia, and diastolic dysfunction.

One case report and literature review of arrhythmia caused by pituitrin.

Arrhythmias are perceived as a complication of pituitrin. However, injecting a standard dose of pituitrin via vein causes different arrhythmias. In our case, a 35-year-old female patient was admitted to the hospital due to a productive cough with sputum for 5 days and two occasions of massive hemoptysis.

Association of 677C > T gene polymorphism with neonatal defects: a meta-analysis of 81444 subjects.

This meta-analysis was performed to clarify controversial associations of the 677C > T gene polymorphism in maternal and foetal tissue with neonatal defects. It was reported the association of 677 C > T gene polymorphism with frequencies of neonatal defects including congenital heart disease (CHD), neural tube defects (NTD), non-syndromic cleft lip and palate (NSCL/P), and Down syndrome (DS). Depending on the neonatal defect subtypes, 677 C > T gene polymorphism was associated with NTD, CHD (except for codominant mode of inheritance (TC/CC) and dominant mode of inheritance (TT + TC/CC);  = .

IGFBP1 inhibits the invasion, migration, and apoptosis of HTR-8/SVneo trophoblast cells in preeclampsia.

Objective: To investigate the effects and underlying mechanisms of IGFBP1 on the biological functions of trophoblasts in simulated preeclampsia.

Methods: IGFBP1 expression in placenta was determined by immunohistochemistry. HTR-8/SVneo cells were stimulated with/without IGFBP1-overexpression and hypoxia-reoxygenation, and the proliferation, invasion, migration, and apoptosis were detected by CCK8, transwell, and flow cytometry, respectively.

Two novel biallelic mutations in in a patient affected by premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. POI is one of the most common reproductive endocrine diseases in women of childbearing age. The present study investigated the clinical manifestations and genetic features of a Chinese patient affected by POI.

Turner syndrome with Xp deletions and rare endometrial abnormalities: A case report.

Rationale: Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome related to ovarian function, but whether it is associated with endometrial abnormalities is still not clear.

Patient Concerns: We report the case of a 26-year-old Han Chinese woman with TS and Xp11.2 deletion, presenting with short final stature, ovarian hypofunction, unexplained cystic dilatation of the entire endometrium, and endometrial thickening.

Clinical and immunological characteristics in COVID-19 convalescent patients.

The humoral and cellular immunity of convalescent COVID-19 patients is involved in pathogenesis and vaccine immunity. In this study, through CoV-psV neutralization assay and IFN-γ ELISpot testing in 30 cases of COVID-19 patients after 9 months post-SARS-CoV-2 infection, it found that the ratio of memory/naive CD4 T lymphocytes cells and levels of anti-SARS-CoV-2-IgM and RBD-IgM were slightly but significantly higher in COVID-19 severe convalescent patients than that in non-severe patients. The specific cellular and humoral immunity against SARS-CoV-2 were detectable, regardless of the severity of the disease in the acute phase.

Meta-analysis: association of homocysteine with recurrent spontaneous abortion.

We analyzed the differences in serum homocysteine levels between patients with a history of recurrent spontaneous abortion (RSA) and those who had not experienced pregnancy-related complications. To this end, we retrieved literature and data on the association of RSA and serum homocysteine levels published before September 1st 2019 from the PubMed, EMBASE, China National Knowledge Infrastructure, and Wanfang databases. We further narrowed our literature review by focusing on peer-reviewed and full-text literature reporting on studies that used similar research methods and provided raw data or means and standard deviations while reporting results.

Overexpression of the PLK4 Gene as a Novel Strategy for the Treatment of Autosomal Recessive Microcephaly by Improving Centrosomal Dysfunction.

Autosomal recessive microcephaly and chorioretinopathy (MCCRP) is a neurodevelopmental disorder characterized by delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities, and its occurrence has been found to be closely related to variants of the gene encoding centrosomes. However, the association between centrosomal duplication defects and the etiology of microcephaly syndromes is poorly understood. It is well known that polo-like kinase 4 (PLK4) is a key regulator of centriole duplication, and the abnormalities of centrosomal function caused by its protein variation need to be further explored in the pathogenesis of microcephaly.

The role of DNA methylation in syndromic and non-syndromic congenital heart disease.

Congenital heart disease (CHD) is a common structural birth defect worldwide, and defects typically occur in the walls and valves of the heart or enlarged blood vessels. Chromosomal abnormalities and genetic mutations only account for a small portion of the pathogenic mechanisms of CHD, and the etiology of most cases remains unknown. The role of epigenetics in various diseases, including CHD, has attracted increased attention.

Upregulation of microRNA-181a-5p increases the sensitivity of HS578T breast cancer cells to cisplatin by inducing vitamin D receptor-mediated cell autophagy.

Breast cancer (BC) is the leading cause of death in females worldwide. Although cisplatin is a strong-effect and broad-spectrum chemotherapy drug, resistance to cisplatin remains a significant factor effecting clinical efficacy. The underlying mechanism of cancer cell resistance to cisplatin is not fully understood.

Thyroid-stimulating hormone level is negatively associated with fertilization rate in patients with polycystic ovary syndrome undergoing in vitro fertilization.

Objective: In this study, we investigated the effect of thyroid-stimulating hormone (TSH) level on the outcomes of in vitro fertilization (IVF) in patients with polycystic ovary syndrome (PCOS).

Methods: Data pertaining to 60 patients who underwent IVF between May 2017 and May 2018 were included in the study. Thirty-two patients were diagnosed as PCOS (PCOS group) and 28 patients had tubal infertility (control group).

Highly Sensitive Electrochemical Detection of Folic Acid by Using a Hollow Carbon Nanospheres@molybdenum Disulfide Modified Electrode.

As a nutrient in body functions, folic acid (FA) plays a very important role for human health, and thus developing a highly sensitive method for its determination is of great significance. In the present work, carbon hollow nanospheres decorated with molybdenum disulfide nanosheets (CHN@MoS) nanomaterials were produced through a simple method and adopted to modify a glassy carbon electrode for assembling a highly sensitive electrochemical sensor of FA. After characterizing the prepared nanomaterials using scanning-/transmission-electron microscopy and Raman spectra, as well as optimizing various testing conditions, including the pH value of the buffer solution, the accumulation time and amount of nanomaterials on electrode surface, and the electrochemical determination of FA was carried out using a CHN@MoS electrode.

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.

Background: The loss of ovarian function in women, referred to as premature ovarian insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically heterogeneous, and in most cases, the etiology is unknown.

Methods: Whole-exome sequencing (WES) was performed on DNA samples obtained from patients with POI, and Sanger sequencing was used to validate the detected potentially pathogenic variants.

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinusitis, tympanitis, and/or male infertility, all of which can severely impair the patient's quality of life. Multiple morphological abnormalities of the sperm flagella (MMAF) is one type of severe teratozoospermia and results from a variety of flagellar defects. In this study, we conducted whole-exome sequencing to identify and evaluate the genetic lesions in two patients with potential PCD and MMAF.

LncRNAs Predicted to Interfere With the Gene Regulation Activity of and in GBM.

Rigorous molecular characterization of biological systems has uncovered a variety of gene variations underlying normal and disease states and a remarkable complexity in the forms of RNA transcripts that exist. A recent concept, competitive endogenous RNA, suggests that some non-coding RNAs can bind to miRNAs to modulate their role in gene expression. Here, we used several platforms, integrating mRNA, non-coding RNAs and protein data to generate an RNA-protein network that may be dysregulated in human glioblastoma multiforme (GBM).

The effects and costs of laparoscopic versus abdominal myomectomy in patients with uterine fibroids: a systematic review and meta-analysis.

Background: Abdominal myomectomy (AM) and laparoscopic myomectomy (LM) are commonly see surgery for the uterine fibroids, several randomized controlled trials (RCTs) have compared the role of AM and LM, the results remained inconsistent. Therefore, we attempted this meta-analysis to analyze the role of LM versus AM in patients with uterine fibroids.

Methods: We searched PubMed et al.

Anticoagulation regimens during pregnancy in patients with mechanical heart valves: a protocol for a systematic review and network meta-analysis.

Introduction: Pregnancy in patients with mechanical heart valves (MHVs) is associated with high maternal complications and fetal complications.Anticoagulation treatments serve to decrease their venous clotting risk. Although some anticoagulation regimens have been used for patients during pregnancy with MHVs, no one is definitively superior among different regimens in recent studies.

DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.

Background: Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind of severe asthenozoospermia, which is caused by dysplastic development of sperm flagella. In our study, we sought to investigate the novel gene mutations leading to severe asthenozoospermia and MMAF.

Methods And Materials: The patient's spermatozoa were tested by Papanicolaou staining and transmission electron microscopy.

Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.

Acephalic spermatozoa, characterized by the headless sperm in the ejaculate, is a rare type of teratozoospermia. Here, we recruited two infertile patients with an acephalic spermatozoa phenotype to investigate the genetic pathology of acephalic spermatozoa. Whole-exome sequencing analysis was performed and found mutations in CEP112 in the two patients: homozygous mutation c.