简介：AbstractThe first practice of pre-implantation genetic testing (PGT) was reported more than 30 years ago. PGT, originally named preimplantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD), is now categorized as PGT for aneuploidies (PGT-A), PGT for monogenic/single-gene defects (PGT-M), and PGT for chromosomal structural rearrangements (PGT-SR). Patients with fertility issues caused by advanced maternal age, carrier status of chromosomal abnormalities, or harboring pathogenic variant(s) are recommended to undergo PGT to increase the possibility of successful live birth and avoid potentially affected newborns. High-throughput techniques, such as DNA microarrays and next-generation sequencing (NGS), have enabled comprehensive screening of all 24 chromosomes, instead of few loci at a time. Furthermore, as a comprehensive PGT, PGT-Plus was enabled by the rapid development of a genome-wide single-cell haplotyping technique to detect embryo aneuploidy, single-gene disorders, and chromosomal aberrations simultaneously using a single universal protocol. In addition, non-invasive approaches enable a more intact embryo during the biopsy procedure, which may avoid potential mosaicism issues at a certain scale by testing spent culture media (SCM). As a novel PGT application, PGT-P detects genome-wide variations in polygenic diseases, which account for a large proportion of premature human deaths and affect a markedly larger population than monogenic diseases, using polygenic risk score calculation to decrease the potential of affecting complex conditions. Owing to the emergence of new technologies recruited to PGTs, more couples with infertility issues have a promising chance of conceiving a healthy baby, ultimately facilitating the human species to live more prosper.

简介：AbstractBackground:Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.Methods:From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.Results:The survey determined 18 patients having genetic variants causing MODY (6 HNF1A, 5 GCK, 3 HNF4A, 2 INS, 1 PDX1, and 1 PAX4). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.Conclusion:The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A-, GCK-, and HNF4A-MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.

简介：AbstractThe effects of gestational diabetes mellitus (GDM) on offspring include macrosomia, hypoglycemia, respiratory distress syndrome, cardiovascular disease, neural and mental injury, etc. The effects of GDM on the health status of offspring are sustained although pregnancy has ended. It has been proposed that fetal reprogramming causes long-term consequences to metabolic health in offspring. An intrauterine high-glucose environment may lead to changes in the multi-differentiation proficiency of intracorporal stem cells, showing decreased proliferation and osteogenic ability, increased adipogenic ability, accelerated apoptosis, and occurrence of premature failure. This environment also reduces the mobilization of bone marrow stem cells, whereas it increases that of medullary cells. This results in pro-inflammatory conditions and sustained inflammation in the body, thereby increasing the risk of obesity, cardiovascular and neurological disorders, and metabolic abnormalities. Stem cells derived from the amniotic membrane, umbilical cord, or placenta may be a reliable predictor of the long-term effects of GDM on offspring. The levels of blood glucose during pregnancy should be effectively controlled to reduce harm to the neonate.

简介：AbstractGestational diabetes mellitus (GDM) is a well-established risk factor for fetal macrosomia. A significant number of patients with GDM also suffer from obesity, a factor associated with fetal macrosomia. An important question is whether GDM is independently associated with fetal macrosomia, or whether this relationship is merely the result of maternal obesity acting as a confounder. In this review of the literature, we attempt to further elucidate the relationship between GDM, maternal obesity, and fetal macrosomia.

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简介：AbstractObjective:This study aimed to determine the likelihood of gestational diabetes mellitus (GDM) in subsequent pregnancy among women without GDM history and to identify risk factors for GDM in subsequent pregnancy.Methods:This retrospective cohort study involved participants who delivered twice in same hospital of 18 research centers when delivered the second baby from January 2018 to December 2018. Finally 6204 women were enrolled and 5180 women without GDM history were analyzed further. Women were categorized as non-GDM or GDM based on the blood glucose values of the subsequent pregnancy, and the characteristics and GDM risk of these groups were compared. A univariate analysis of potential risk factors was performed using the Chi-squared test and/or t-test for qualitative or quantitative variables, respectively. Associations with P values <0.1 were chosen to be included in the multivariate binary logistic regression model.Results:In primary analysis of 6204 women, the incidence of GDM in subsequent pregnancy is 48.9% (490/1002) in women with GDM history and 16.1% (835/5202) in women without GDM history. In a further analysis for 5180 women without GDM at index pregnancy, compared with the non-GDM group, the GDM group had a significantly higher age, prepregnancy body mass index, and blood glucose value at each oral glucose tolerance test (OGTT) timepoint (fasting, 1 h and 2 h) during the index and subsequent pregnancies, as well as higher weight retention during the interval between the two pregnancies (P<0.001). Age above 35 years in subsequent pregnancy (odds ratio (OR)=1.540, 95% confidence interval (CI) = 1.257-1.886, P<0.001), macrosomia in index pregnancy (OR=1.749, 95% CI=1.277-2.395, P=0.001), OGTT blood glucose values in index pregnancy (fasting, OR=2.487, 95% CI=1.883-3.285, P<0.001; 1 h, OR=1.142, 95% CI=1.051-1.241, P=0.002; 2 h, OR=1.290, 95% CI=1.162-1.432, P<0.001) and weight retention (OR=1.052, 95% CI=1.035-1.068, P<0.001) were independent risk factors for GDM in subsequent pregnancy.Conclusion:For women without GDM history, GDM risk factors including age, macrosomia history, OGTT value, and weight retention, these can be evaluated before a subsequent pregnancy. Early warning and interventions are needed for women at high risk.

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简介：AbstractBackground:Preliminary studies have indicated that Shexiang Baoxin Pill (MUSKARDIA) has a coronary artery dilation effect and increases the coronary blood flow, relieving the symptoms of angina. This study aimed to evaluate the benefit of MUSKARDIA on patients with stable coronary artery disease (CAD) and diabetes mellitus (DM).Methods:This was a subgroup analysis of a multicenter, randomized, placebo-controlled phase IV trial. CAD patients with a medical history of DM or baseline fasting blood glucose (FBG) ≥7.0 mmol/L were grouped according to the treatment (standard therapy plus MUSKARDIA or placebo). The primary outcome was major adverse cardiovascular events (MACEs), which was the composite outcome of cardiovascular death, non-fatal myocardial infarction, and non-fatal stroke. The secondary outcome was the composite outcome of all-cause death, non-fatal myocardial infarction, non-fatal stroke, hospitalization for unstable angina or heart failure, and coronary angioplasty.Results:MACEs occurred in 2.6% (9/340) and 4.8% (18/376) of patients in the MUSKARDIA and placebo groups, respectively (P = 0.192). Secondary composite outcome was significantly less frequent with MUSKARDIA than with placebo (15.3% [52/340] vs. 22.6% [85/376], P = 0.017). Risk of MACEs (hazard ratio [HR] = 0.69, 95% confidence interval [CI]: 0.31-1.57) was comparable between two groups. In patients with uncontrolled DM (≥4 measurements of FBG ≥7 mmol/L in five times of follow-up), the risk of secondary outcome was significantly lower with MUSKARDIA (5/83, 6.0%) than with placebo (15/91, 16.5%) (HR= 0.35, 95%CI: 0.13-0.95).Conclusion:As an add-on to standard therapy, MUSKARDIA shows a trend of reduced MACEs in patients with stable CAD and DM. Furthermore, MUSKARDIA may reduce the frequency of all-cause death, hospitalization, and coronary angioplasty in this population, especially in those with uncontrolled DM.Trial Registration:ChiCTR.org.cn, ChiCTR-TRC-12003513

简介：【摘要】目的：分析2型糖尿病患者应用达格列净、二甲双胍治疗的有效性。方法：时间选取2022年上半年，组织90例2型糖尿病患者进行医学观察，划分两个小组，有单一组与联合组，评估患者治疗情况和氧化-抗氧化平衡的调节情况。结果：联合组丙二醛指标均值（8.65±0.39）μmol/L、终末氧化蛋白产物指标均值（18.52±1.22）μmol/L、超氧化物歧化酶指标均值（35.76±3.95）U/L、过氧化氢酶均值（95.40±8.51）U/L、总抗氧化能力指标均值（40.25±2.33）U/L，均优于单一组，p