Genetic risk stratification and risk factors of early menopause in women: a multi-center study utilizing polygenic risk scores.

Objective: This study aims to evaluate the utility of polygenic risk scores (PRS) in women with early menopause (EM) and to investigate the clinical characteristics and risk factors associated with EM based on genetic risk.

Study Design: Genotyping data and clinical data from women with EM and women with normal age of menopause retrieved from UK Biobank were used for early menopause risk prediction model establishment. Subsequently, 99 women diagnosed with EM and 1027 control women underwent PGT-M were recruited for model validation from across eight hospitals in China.

Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.

Unstable hemoglobinopathies are a rare, heterogeneous group of diseases that disrupt the stability of hemoglobin (Hb), leading to chronic hemolysis and anemia. Patients with severe phenotypes often require regular blood transfusions and iron chelation therapy. Although rare, studies have reported that hematopoietic stem cell transplantation (HSCT) seems to be an available curative approach in transfusion-dependent patients with unstable hemoglobinopathies.

Case report: Genotype and phenotype of -related malformations of cortical development: a case report and literature review.

Background: Mutations in the dynein cytoplasmic 1 heavy chain 1 () gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of and review the relevant literature to explore genotype-phenotype relationships.

Case Presentation: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy.

Aged Patients With Severe Small Vessel Disease Exhibit Poor Bimanual Coordination During the Anti-Phase Horizontal Line Drawing Task.

The present study explores whether SVD affects bimanual coordination, which is easier to detect than by conventional, MRI-based methods. We tested nine severe SVD patients, eight non-severe (i.e.

Clinical efficacy analysis of mesenchymal stem cell therapy in patients with COVID-19: A systematic review.

Background: Currently, ongoing trials of mesenchymal stem cells (MSC) therapies for coronavirus disease 2019 (COVID-19) have been reported.

Aim: In this study, we investigated whether MSCs have therapeutic efficacy in novel COVID-19 patients.

Methods: Search terms included stem cell, MSC, umbilical cord blood, novel coronavirus, severe acute respiratory syndrome coronavirus-2 and COVID-19, applied to PubMed, the Cochrane Controlled Trials Register, EMBASE and Web of Science.

Postoperative high-density lipoprotein cholesterol level: an independent prognostic factor for gastric cancer.

Objective: The relationship between serum lipids and prognosis of gastric cancer has not been confirmed. Our purpose in the study was to investigate the associations between preoperative and postoperative serum lipids level and prognosis in patients with gastric cancer.

Methods: A retrospective study was performed on 431 patients who received radical (R0) gastrectomy from 2011 to 2013.

Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report.

Rationale: Respiratory distress syndrome (RDS) refers to the symptoms of progressive dyspnea and respiratory failure in newborns shortly after birth. The clinical and genetic characteristics of patients with neonatal RDS have not been extensively reported.

Patient Concerns: A infant was in critical condition with repeated paroxysmal blood oxygen decline.

Early Robotic-Assisted Laparoscopic Pyeloplasty for Infants Under 3 Months With Severe Ureteropelvic Junction Obstruction.

To present our primary experience of robotic-assisted laparoscopic pyeloplasty (RALP) for severe ureteropelvis junction obstruction (UPJO) infants under 3 months. We performed a retrospective study of 9 infants under 3 months who underwent RALP for severe UPJO between April 2017 and March 2019 in our center. The severe UPJO was defined as infants with severe hydronephrosis (Society of Fetal Urology grades III or IV, anteroposterior diameter >3 cm or split renal function <40% or T 1/2 >20 min) involving bilateral, solitary kidney, or contralateral renal hypoplasia UPJO at the same time.

Integrated MicroRNA-mRNA Analyses of Distinct Expression Profiles in Hyperoxia-Induced Bronchopulmonary Dysplasia in Neonatal Mice.

Objective: Bronchopulmonary dysplasia (BPD) is a common chronic lung disease of preterm neonates; the underlying pathogenesis is not fully understood. Recent studies suggested microRNAs (miRNAs) may be involved in BPD.

Study Design: miRNA and mRNA microarrays were performed to analyze the expression profiles of miRNA and mRNA in BPD and control lung tissues after oxygen and air exposure on day 21.

1α, 25-dihydroxyvitamin D3 inhibits transforming growth factor β1-induced epithelial-mesenchymal transition via β-catenin pathway.

Background: The transforming growth factor β1 (TGF-β1)-induced epithelial-mesenchymal transition (EMT) has been proven associated with the pathogenesis of asthmatic airway remodeling, in which the Wnt/β-catenin pathway plays an important role, notably with regard to TGF-β1. Recent studies have shown that 1α, 25-dihydroxyvitamin D3(1α, 25(OH)2D3) inhibits TGF-β1-induced EMT, although the underlying mechanism have not yet been fully elucidated.

Methods: Alveolar epithelial cells were exposed to 1α, 25(OH)2D3, ICG-001, or a combination of both, followed by stimulation with TGF-β1.

Vacuum-assisted closure . bilateral pectoralis major muscle flaps for deep sternal wounds infection.

Background: Deep sternal wound infection (DSWI) is a life-threatening complication after cardiac surgery. The aim of this study was to retrospectively evaluate the outcomes of reconstructing infected poststernotomy wounds with either vacuum-assisted closure (VAC) after previous debridement or bilateral pectoralis major muscle flaps (BPMMFs).

Methods: In total, 565 patients with postoperative DSWI were enrolled in this study from January 1, 2014, to June 1, 2018.

A drug-eluting Balloon for the trEatment of coronarY bifurcatiON lesions in the side branch: a prospective multicenter ranDomized (BEYOND) clinical trial in China.

Background: Treatment of coronary bifurcation lesions remains challenging; a simple strategy has been preferred as of late, but the disadvantage is ostium stenosis or even occlusion of the side branch (SB). Only a few single-center studies investigating the combination of a drug-eluting stent in the main branch followed by a drug-eluting balloon in the SB have been reported. This prospective, multicenter, randomized study aimed to investigate the safety and efficacy of a paclitaxel-eluting balloon (PEB) compared with regular balloon angioplasty (BA) in the treatment of non-left main coronary artery bifurcation lesions.