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1.
Front Oncol ; 13: 1222873, 2023.
Article in English | MEDLINE | ID: mdl-37746257

ABSTRACT

Germline variations in the DNA polymerase genes, POLE and POLD1, can lead to a hereditary cancer syndrome that is characterized by frequent gastrointestinal polyposis and multiple primary malignant tumors. However, because of its rare occurrence, this disorder has not been extensively studied. In this report, we present the case of a 22-year-old female patient who had been diagnosed with gastrointestinal polyposis, breast fibroadenoma, multiple primary colorectal cancers, and glioblastoma (grade IV) within a span of 4 years. Next-generation sequencing analysis revealed a germline variant in POLD1 (c.1816C>A; p.L606M). In silico analysis using protein functional predicting software, including SIFT, Polyphen, GERP++, and CADD, further confirmed the pathogenicity of POLD1 p.L606M (classified as ACMG grade Class 4). In line with polymerase deficiency, both rectal cancer and glioblastoma tissues exhibited a high tumor mutation burden, with 16.9 muts/Mb and 347.1 muts/Mb, respectively. Interestingly, the patient has no family history of cancer, and gene examination of both parents confirms that this is a de novo germline variant. Therefore, molecular screening for POLD1 may be necessary for patients with such a cancer spectrum, regardless of their family history.

3.
Diabetes Res Clin Pract ; 199: 110673, 2023 May.
Article in English | MEDLINE | ID: mdl-37075929

ABSTRACT

OBJECTIVE: To investigate the association of glycated hemoglobin (HbA1c) and homeostasis model assessment insulin resistance (HOMA-IR) with gestational diabetes mellitus (GDM) risk. METHODS: Data for this study were from a prospective cohort in Hangzhou, China. We included pregnant women with HbA1c, fasting insulin, and fasting glucose (FG) measured at 15-20 weeks of gestation and underwent oral glucose tolerance test (OGTT) at 24-28 weeks. Based on HbA1c and HOMA-IR, participants were divided into four groups. We estimated the odds ratios (OR) with 95% confidence intervals (CI) to assess the associations of HbA1c and HOMA-IR with GDM occurrence. Finally, we the potential additive interaction between HbA1c and HOMA-IR by calculating relative excess risk due to interaction (RERI) and the attributable proportion due to interaction (AP). RESULT: 462 pregnant women were included, of whom 136 (29.44%) developed GDM. Based on HbA1c and HOMA-IR, the study population was divided into four groups, with the percentages of each group being 51.30%, 15.58%, 20.56%, and 12.55%, respectively. The incidence of GDM increased with the increase of HOMA-IR and HbA1c, respectively, and the risk of GDM was significantly increased when both HOMA-IR and HbA1c were elevated. However, no such risk was observed in pregnant women < 35 years. Finally, we found significantly higher FG at 24-28 weeks in the high HOMA-IR and HbA1c group among GDM-positive pregnant women. CONCLUSIONS: The incidence of GDM increased with increasing HbA1c and HOMA-IR, and the risk of GDM was significantly increased when both HbA1c and HOMA-IR were elevated. This finding may help to identify high-risk women for GDM early in pregnancy and provide timely interventions.


Subject(s)
Diabetes, Gestational , Insulin Resistance , Female , Pregnancy , Humans , Diabetes, Gestational/diagnosis , Diabetes, Gestational/epidemiology , Glycated Hemoglobin , Prospective Studies , Blood Glucose , Insulin
4.
Sci Rep ; 13(1): 1608, 2023 01 28.
Article in English | MEDLINE | ID: mdl-36709211

ABSTRACT

Intrahepatic cholestasis of pregnancy (ICP) is a rare liver disease occurring during pregnancy that is characterized by disordered bile acid (BA) metabolism. It is related to adverse clinical outcomes in both the mother and fetus. Our aim was to evaluate the BA metabolism profiles in different types of ICP and investigate the association between specific BAs and perinatal complications in ICP patients. We consecutively evaluated 95 patients with ICP, in which 53 patients were diagnosed with early-onset ICP (EICP) and 42 patients were diagnosed with late-onset ICP (LICP). Concentrations of 15 BA components were detected using high-performance liquid chromatography tandem mass spectrometry. Clinical information was abstracted from the medical records. The percentage of conjugated bile acids increased in ICP patients. Specifically, taurocholic acid (TCA) accumulated in LICP patients, and glycocholic acid (GCA) predominated in EICP patients. A higher preterm birth incidence was observed among ICP patients. Albumin, total bile acids, total bilirubin and GCA percentage values at ICP diagnosis predicts 83.5% of preterm birth in EICP, and the percentage of TCA in total bile acids at ICP diagnosis predicts 93.2% of preterm birth in LICP. This analysis showed that the BA metabolism profiles of EICP and LICP were distinct. Increased hepatic load was positively correlated with preterm birth in EICP. An elevated TCA percentage in total bile acids provides a biomarker to predict preterm birth in LICP.


Subject(s)
Cholestasis, Intrahepatic , Pregnancy Complications , Premature Birth , Pregnancy , Female , Humans , Infant, Newborn , Bile Acids and Salts , Premature Birth/epidemiology , Pregnancy Complications/epidemiology , Cholestasis, Intrahepatic/diagnosis , Pregnancy Outcome
5.
Front Psychol ; 13: 888028, 2022.
Article in English | MEDLINE | ID: mdl-35903728

ABSTRACT

Distribution and sharing are social preference behaviors supported and shaped by selection pressures, which express individuals' concern for the welfare of others. Distributive behavior results in distributive justice, which is at the core of moral justice. Sharing is a feature of the prosocial realm. The connotations of distribution and sharing are different, so the principles, research paradigms, and social functions of the two are also different. Three potential causes of confusion between the two in the current research on distribution and sharing are discussed. First, they share common factors in terms of individual cognition, situation, and social factors. Second, although they are conceptually different, prosocial sharing and distribution fairness sensitivity are mutually predictive in individual infants. Similarly, neural differences in preschoolers' perception of distribution fairness predict their subsequent sharing generosity. Finally, similar activation regions are relevant to distribution and sharing situations that need behavioral control on a neural basis.

6.
Front Psychol ; 13: 1061551, 2022.
Article in English | MEDLINE | ID: mdl-36619093

ABSTRACT

Individual empathy emerges during infancy, and its development is influenced by family environmental factors such as parental characteristics and parenting style. In this study, we examined how maternal empathy was related to infant empathy and the mediating role of responsive parenting in this relationship using situational observation and scale measurement data. Thirty-three infants aged 11-30 months (M = 20.18, SD = 5.18) and their mothers (all from middle-income Chinese families) participated in simulated distress scenarios and structured mother-infant interaction sessions. These paradigms are widely used to study infant empathy and responsive parenting. The maternal empathy levels were measured using the Adult Empathy Scale (E-scale). The results indicate that (1) by their second year, infants largely acquire the capacity for other-oriented empathy and display significantly greater levels of empathy toward their mothers than toward strangers; (2) maternal empathy is significantly and positively correlated with responsive parenting and infant empathy, responsive parenting is significantly and positively correlated with infant empathy; and (3) responsive parenting fully mediates the effect of maternal empathy on infant empathy. These findings indicate that maternal empathy level can be enhanced to improve the quality of parent-child interaction, thereby promoting infant empathy development.

7.
J Diabetes Res ; 2021: 6689414, 2021.
Article in English | MEDLINE | ID: mdl-34212051

ABSTRACT

BACKGROUND: Gestational diabetes mellitus (GDM) is a type of glucose intolerance disorder that first occurs during women's pregnancy. The main diagnostic method for GDM is based on the midpregnancy oral glucose tolerance test. The rise of metabolomics has expanded the opportunity to better identify early diagnostic biomarkers and explore possible pathogenesis. METHODS: We collected blood serum from 34 GDM patients and 34 normal controls for a LC-MS-based metabolomics study. RESULTS: 184 metabolites were increased and 86 metabolites were decreased in the positive ion mode, and 65 metabolites were increased and 71 were decreased in the negative ion mode. Also, it was found that the unsaturated fatty acid metabolism was disordered in GDM. Ten metabolites with the most significant differences were selected for follow-up studies. Since the diagnostic specificity and sensitivity of a single differential metabolite are not definitive, we combined these metabolites to prepare a ROC curve. We found a set of metabolite combination with the highest sensitivity and specificity, which included eicosapentaenoic acid, docosahexaenoic acid, docosapentaenoic acid, arachidonic acid, citric acid, α-ketoglutaric acid, and genistein. The area under the curves (AUC) value of those metabolites was 0.984 between the GDM and control group. CONCLUSIONS: Our results provide a direction for the mechanism of GDM research and demonstrate the feasibility of developing a diagnostic test that can distinguish between GDM and normal controls clearly. Our findings were helpful to develop novel biomarkers for precision or personalized diagnosis for GDM. In addition, we provide a critical insight into the pathological and biological mechanisms for GDM.


Subject(s)
Diabetes, Gestational/metabolism , Metabolomics , Adult , Arachidonic Acid/metabolism , Case-Control Studies , Chromatography, Liquid , Citric Acid/metabolism , Diabetes, Gestational/diagnosis , Docosahexaenoic Acids/metabolism , Eicosapentaenoic Acid/metabolism , Fatty Acids, Unsaturated/metabolism , Female , Genistein/metabolism , Humans , Ketoglutaric Acids/metabolism , Mass Spectrometry , Metabolome , Pregnancy , Sensitivity and Specificity
8.
J Zhejiang Univ Sci B ; 22(3): 223-232, 2021 Mar 15.
Article in English | MEDLINE | ID: mdl-33719227

ABSTRACT

Gestational diabetes mellitus (GDM) is characterized by glycemia and insulin disorders. Bile acids (BAs) have emerged as vital signaling molecules in glucose metabolic regulation. BA change in GDM is still unclear, which exerts great significance to illustrate the change of BAs in GDM. GDM patients and normal pregnant women were enrolled during the oral glucose tolerance test (OGTT) screening period. Fasting serums were sampled for the measurement of BAs. BA metabolism profiles were analyzed in both pregnant women with GDM and those with normal glucose tolerance (NGT). Delivery characteristics, delivery gestational age, and infant birthweight were extracted from medical records. GDM patients presented distinctive features compared with NGT patients, including higher body mass index (BMI), elevated serum glucose concentration, raised insulin (both fasting and OGTT), and increased hemoglobin A1c (HbA1c) levels. Higher homeostasis model assessment of insulin resistance (HOMA-IR) and decreased ß-cell compensation (i.e., oral disposition index (DIo)) were also prevalent in this group. Total BAs (TBAs) remained stable, but glycodeoxycholic acid (GDCA) and taurodeoxycholic acid (TDCA) levels declined significantly in GDM. GDCA was inversely correlated with HOMA-IR and positively correlated with DIo. No obvious differences in clinical outcome between the GDM and NGT groups were observed. However, GDM patients with high HOMA-IR and low DIo tended to have a higher cesarean delivery rate and younger delivery gestational age. In conclusion, GDCA provides a valuable biomarker to evaluate HOMA-IR and DIo, and decreased GDCA levels predict poorer clinical outcomes for GDM.


Subject(s)
Diabetes, Gestational/metabolism , Glycodeoxycholic Acid/blood , Adult , Female , Humans , Insulin/blood , Insulin Resistance , Pregnancy , Pregnancy Outcome , Young Adult
9.
Acta Diabetol ; 58(8): 1081-1089, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33768379

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the association between a relatively high HbA1c level within the normal range and the risk of adverse pregnancy outcomes. METHODS: This retrospective cohort study was conducted between March 2018 and March 2019 at Women's Hospital, School of Medicine, Zhejiang University. Multiple logistic regression models after adjusting for plausible confounders were implemented to assess the relationships between the level of HbA1c and adverse pregnancy outcomes. RESULTS: A total of 8585 women were included in our study. The rates of preterm birth, macrosomia and preeclampsia were 4.4% (380/8585), 5.3% (457/8585) and 1.7% (149/8585), respectively. After adjusting for potential confounding variables, an HbA1c range of 5.5-5.9% (37-41 mmol/mol) remained significantly associated with an increased risk of preterm delivery (a-OR 2.27; 95% CI, 1.50-3.43), macrosomia (a-OR 1.97; 95% CI, 1.32-2.94) and preeclampsia (a-OR 3.70; 95% CI, 2.07-6.60). GDM-negative pregnant women with an HbA1c level in the range of 5.5-5.9% (37-41 mmol/mol) had an increased risk of preterm delivery (a-OR 2.84; 95% CI, 1.71-4.71) and preeclampsia (a-OR 3.82; 95% CI, 1.81-8.04). However, GDM-positive pregnant women had an increased risk of macrosomia (a-OR 2.12; 95% CI, 1.13-3.97) and preeclampsia (a-OR 2.62; 95% CI, 1.01-6.81). CONCLUSION: A higher HbA1c level within the normal range is an independent risk factor for preterm delivery and preeclampsia, especially among GDM-negative women. Therefore, relevant medical staff should enhance the awareness of risk and prevention to strengthen pregnancy monitoring.


Subject(s)
Glycated Hemoglobin/analysis , Pregnancy Complications/epidemiology , Pregnancy Outcome , Adult , Cohort Studies , Cross-Sectional Studies , Diabetes, Gestational/diagnosis , Diabetes, Gestational/epidemiology , Female , Fetal Macrosomia/epidemiology , Humans , Infant, Newborn , Pre-Eclampsia/epidemiology , Pregnancy , Premature Birth/epidemiology , Reference Values , Retrospective Studies , Risk Factors
10.
BMC Pediatr ; 20(1): 416, 2020 09 02.
Article in English | MEDLINE | ID: mdl-32878605

ABSTRACT

BACKGROUND: Congenital heart defect is the leading malformation in China. There may have been changes in congenital heart defect incidence because of birth policy shift in China over past years. This study aimed to investigate the epidemiology, prenatal diagnosis, and outcomes of congenital heart disease to improve medical and policy decisions. METHODS: Data on cases of congenital heart disease identified during 2014-2018 were taken from the Zhejiang provincial birth defects surveillance system. Chi-square test, odds ratio (OR) and 95% confidence interval (CI) were used to explore epidemiology, prenatal diagnosis, and birth outcomes of congenital heart disease. RESULTS: The average incidence of congenital heart disease was 16.0 per 1000 births, which increased by 62.2% during 2014-2018(χ2trend = 181.41, P < 0.001). However, the average critical congenital heart incidence was 1.6 per 1000 births, which remained stable over time. Women aged ≤20 years (OR2.1, 95% CI 1.9-2.3) or ≥ 35 years (OR 1.2, 95% CI 1.2-1.3) were at higher risk of having babies with congenital heart disease than women aged 21-34 years. Women who gave birth in urban areas (OR 1.2, 95% CI 1.2-1.3), had a son (OR 1.3, 95% CI 1.3-1.4), or had multiple births (OR 4.0, 95% CI 3.7-4.4) were also at higher risk than those giving birth in rural areas, to girls, or single births, respectively. The three major subtypes of congenital heart disease were atrial septal defect (67.9%), patent ductus arteriosus (34.7%), and ventricular septal defect (6.4%). The prenatal detection rate of critical congenital heart disease was 90.0%, which was far higher than total congenital heart disease, at 22.2% (χ2 = 1687.67, P < 0.001). There were 1457 (17.1%) stillbirths, 106 (1.2%) early neonatal deaths, and 6983 (81.7%) live births associated with congenital heart disease. CONCLUSIONS: The high incidence of congenital heart disease in Zhejiang might be attributable to the large proportion of mild congenital heart disease. The incidence of critical congenital heart disease, the prenatal detection rate, and perinatal deaths from congenital heart disease are comparable to those in other studies.


Subject(s)
Heart Defects, Congenital , Prenatal Diagnosis , Adult , China/epidemiology , Female , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/epidemiology , Hospitals , Humans , Incidence , Infant, Newborn , Pregnancy , Young Adult
11.
Article in English | MEDLINE | ID: mdl-32513795

ABSTRACT

Here, the antimicrobial susceptibility, resistance mechanisms, and clonality of Mobiluncus sp. isolates recovered from gynecological outpatients in China were investigated. Compared to M. mulieris, M. curtisii exhibited higher antimicrobial resistance to metronidazole, clindamycin, and tetracycline. Whole-genome sequencing indicated that the clindamycin resistance gene erm(X) was located on a transposable element, Tn5432, which was composed of two IS1249 sequences. Phylogenetic analysis indicated that Mobiluncus spp. had high diversity, with isolates being grouped into several sporadic clades.


Subject(s)
Clindamycin , Mobiluncus , Anti-Bacterial Agents/pharmacology , China , Clindamycin/pharmacology , Microbial Sensitivity Tests , Phylogeny
12.
Emerg Infect Dis ; 25(11): 2021-2030, 2019 11.
Article in English | MEDLINE | ID: mdl-31600132

ABSTRACT

Invasive group B Streptococcus (GBS) remains a leading cause of illness and death among infants globally. We conducted prospective and retrospective laboratory-based surveillance of GBS-positive cultures from infants <3 months of age in 18 hospitals across China during January 1, 2015-December 31, 2017. The overall incidence of GBS was 0.31 (95% CI 0.27-0.36) cases/1,000 live births; incidence was 0-0.76 cases/1,000 live births across participating hospitals. The case-fatality rate was 2.3%. We estimated 13,604 cases of GBS and 1,142 GBS-associated deaths in infants <90 days of age annually in China. GBS isolates were most commonly serotype III (61.5%) and clonal complex 17 (40.6%). Enhanced active surveillance and implementation of preventive strategies, such as maternal GBS vaccination, warrants further investigation in China to help prevent these infections.


Subject(s)
Streptococcal Infections/epidemiology , Streptococcal Infections/microbiology , Streptococcus agalactiae/classification , Streptococcus agalactiae/genetics , Age of Onset , Child, Preschool , China/epidemiology , Geography, Medical , Humans , Incidence , Infant , Infant, Newborn , Molecular Epidemiology , Molecular Typing , Public Health Surveillance , Serotyping
13.
Metabolism ; 95: 77-83, 2019 06.
Article in English | MEDLINE | ID: mdl-30959040

ABSTRACT

PURPOSE: Bile acids are a group of cholesterol metabolites functioning as key regulators of glucose, lipid, and energy metabolism. Their homeostatic control is essential to the physiology of the normal pregnancy. Abnormalities of bile acids regulation in pregnancy lead to intrahepatic cholestasis of pregnancy, a serious condition associated with a number of fetal and maternal morbidities. Dysregulation of glucose and lipids is also tied to perturbations in bile acid concentrations. Changes in bile acid metabolic profiles in the second and third trimesters of pregnancy have been incompletely explored. We seek to establish pregnancy-specific normative ranges for a number of bile acids in women in the second and third trimesters and explore changes in their concentrations in the period from 12 to 40 weeks gestation. PROCEDURE: In this cross-sectional study, a total of 782 normal pregnant women were enrolled including n = 290 in the second trimester (12-28 weeks) and n = 492 in the third trimester (29-40 weeks). The concentrations of 14 bile acids were measured by liquid chromatography and mass spectrometry (LC-MS) and compared at various time points. Reference intervals of these bile acids were calculated using standard statistical techniques. RESULTS: A reference interval profile of 14 bile acids from a cohort of 782 normal pregnant women was developed. Significant differences in concentration were found between the second trimester and the third trimester. Unconjugated bile acids dominate the bile acid profile in the second trimester, while conjugated bile acids, especially (taurine-conjugated) dominate in the third trimester. 28-31 weeks gestation was the notable change period of bile acid metabolism. CONCLUSION: This study establishes pregnancy-specific reference intervals for bile acids in the second and third trimesters. As bile acid composition changes with gestational age, this study establishes a foundation for trimester-specific clinical interpretation of bile acid metabolic profiles in pregnant women.


Subject(s)
Bile Acids and Salts/metabolism , Pregnancy Trimester, Third/metabolism , Adolescent , Adult , Cross-Sectional Studies , Female , Humans , Middle Aged , Pregnancy , Pregnancy Trimester, Second/metabolism , Reference Values , Taurine/metabolism , Young Adult
14.
RSC Adv ; 8(10): 5459-5467, 2018 Jan 29.
Article in English | MEDLINE | ID: mdl-35542414

ABSTRACT

The catalytic behavior of a palladium catalyst supported on macroporous SmMn2O5 mullite (Pd/SMO-EG&M) for CO and C3H8 oxidation was measured under lean-burn conditions. Different analytical techniques including XRD, Raman, BET, CO chemisorption, SEM, FTEM, XPS, TPD, TPR and CO + O2 pulse were undertaken to evaluate its physical and chemical properties. It was concluded that the crystal structure, morphology and specific surface area (SSA) of SmMn2O5 remained unchanged after Pd addition. The Pd/SMO-EG&M exhibited a low complete transformation temperature for CO (105 °C) and C3H8 (350 °C) oxidation. Such remarkable oxidation activity was attributed to high Pd dispersion (38.4%), which improved the reducibility and mobility of oxygen species, as revealed by TPR and TPD measurements. The high activity of oxygen species for Pd/SMO-EG&M above 250 °C accelerated the oxidation capacity as well. In a word, our study indicates that the macroporous Pd-mullite catalyst has potential applications in exhaust purification for gasoline vehicle.

15.
BMC Infect Dis ; 17(1): 377, 2017 05 31.
Article in English | MEDLINE | ID: mdl-28569141

ABSTRACT

BACKGROUND: Group B Streptococcus (GBS) is a cause of neonatal sepsis, pneumonia, and meningitis that can lead to neurological sequelae in infants less than 3 months of age. The GBS disease burden is not known in China, therefore it cannot receive major attention. The main objectives of this study are the evaluation of the incidence of neonatal GBS infection, GBS case-fatality ratio, its serotypes and genotypes, bacterial resistance, clinical treatment and outcomes in China. METHODS: We are conducting a nation-wide, population-based, multi-center, prospective, observational cohort study in China from May 2016 to December 2017. Eighteen large urban tertiary care hospitals from 16 provinces were selected that cover the eastern, southern, western, northern and central regions of China. Meanwhile, we retrospectively collected data and GBS strains from January 2015 to April 2016 from selected hospitals. The incidence rate per 1000 live births will be defined as the total number of confirmed GBS cases born in the selected hospitals divided by the number of live births in the hospitals during the study period. All GBS cases detected in selected hospitals will be used to calculate the case-fatality ratio and for the typing analysis. GBS isolates will be serotyped using the Strep-B-Latex® rapid latex agglutination test for serotyping of Group B streptococci. Multi-locus sequence typing (MLST) will be performed by sequencing the internal fragments of seven house-keeping genes. Antimicrobial susceptibility will be tested per interpretive standards established by the Clinical and Laboratory Standards Institute. The presence of the common resistance genes ermA, ermB, mefA, tetI, tetO and tetM will be tested by PCR. DISCUSSION: We are conducting the first national study to estimate the invasive GBS disease burden and antimicrobial resistance of GBS among infants in China. Study findings will provide important evidence for improving clinical practice to ensure timely diagnosis of GBS disease and decisions for preventive measures. Surveillance of antimicrobial resistance will promote the rational use of antimicrobials. TRIAL REGISTRATION: The study was retrospectively registered at http://clinicaltrials.gov on June 13, 2016. It was granted a registration number of "NCT02812576".


Subject(s)
Anti-Bacterial Agents/pharmacology , Drug Resistance, Bacterial/genetics , Streptococcal Infections/epidemiology , Streptococcus agalactiae/drug effects , China/epidemiology , Drug Resistance, Bacterial/drug effects , Female , Genes, Essential , Genotype , Humans , Infant , Infant, Newborn , Male , Microbial Sensitivity Tests , Multilocus Sequence Typing , Prospective Studies , Retrospective Studies , Serogroup , Streptococcal Infections/drug therapy , Streptococcal Infections/microbiology , Streptococcus agalactiae/genetics , Streptococcus agalactiae/isolation & purification
16.
Mol Med Rep ; 15(5): 2903-2908, 2017 May.
Article in English | MEDLINE | ID: mdl-28350050

ABSTRACT

Atherosclerosis (AS) remains the leading cause for global cardiovascular disease morbidity and mortality, and a major cause of cardiopathy, myocardial infarction and peripheral vascular diseases. Macrophages serve a critical role in atherosclerotic plaque stabilization and rupture, and the selective removal of macrophages may be beneficial in improving plaque stability. Autophagy is a process of self­feeding, during which cytoplasmic proteins or organelles are packaged into vesicles and fused with the lysosome to form an autophagosome. The newly formed autophagosome can degrade internalized proteins, and this process may be used to serve the metabolic and self­renewal requirements of the cell. Autophagy serves an important role in maintaining cell homeostasis and promoting cell survival, and therefore an imbalance in autophagy is closely associated with multiple diseases.


Subject(s)
Atherosclerosis/pathology , Autophagy , Ataxia Telangiectasia Mutated Proteins/metabolism , Atherosclerosis/metabolism , Humans , Lysosomal-Associated Membrane Protein 2/metabolism , Macrophages/immunology , Macrophages/metabolism , Protein Phosphatase 2C/metabolism , Severity of Illness Index , TOR Serine-Threonine Kinases/metabolism
17.
Clin Endocrinol (Oxf) ; 86(4): 552-559, 2017 Apr.
Article in English | MEDLINE | ID: mdl-27864985

ABSTRACT

CONTEXT: Telomeric repeat-containing RNA (TERRA) participates in the regulation of telomere length, and leucocyte telomere length (LTL) plays an important role in the pathophysiology of polycystic ovary syndrome (PCOS), but little is known about the role of TERRA in PCOS. OBJECTIVE: To evaluate the role of TERRA and peripheral blood LTL in PCOS. DESIGN AND PARTICIPANTS: Forty women with PCOS and 35 healthy women without PCOS were recruited. A prospective case-control study was performed. MEASUREMENTS: RNA fluorescence in situ hybridization (FISH) was used to detect TERRA expression in peripheral blood leucocyte. Quantitative PCR was used to measure TERRA expression and the mean LTL in the PCOS and control groups. We analysed the association between related clinical parameters and the age-adjusted ratio of the telomere repeat length (T/S ratio) or TERRA. RESULTS: Telomeric repeat-containing RNA was expressed in human peripheral blood leucocytes, and the signal was abolished after culture with RNase A. The age-adjusted LTLs were significantly longer in the PCOS group than in the control group (P < 0·01). The age-adjusted TERRA level was significantly lower in the PCOS group than in the control group (P < 0·01). Testosterone (TTE) was related positively to LTL and negatively to TERRA in the PCOS group (r = 0·532, P = 0·002; r = -0·477, P = 0·017). CONCLUSION: We found TERRA expression in human peripheral blood leucocytes, and LTLs were positively associated with PCOS. TERRA and testosterone play an important role in the LTL regulation in PCOS.


Subject(s)
Polycystic Ovary Syndrome/etiology , RNA/physiology , Telomere/physiology , Adult , Case-Control Studies , Female , Humans , Leukocytes/metabolism , Polycystic Ovary Syndrome/genetics , Prospective Studies , Telomere/metabolism , Telomere/ultrastructure , Testosterone/blood , Young Adult
18.
Taiwan J Obstet Gynecol ; 55(3): 379-84, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27343319

ABSTRACT

OBJECTIVE: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate prenatal screening and diagnostic technologies. MATERIALS AND METHODS: Second trimester amniocentesis and fetal karyotype results of 46,258 women were retrospectively reviewed. All women were ≥ 35 years old with singleton pregnancies. The rates of clinically significant chromosomal abnormalities (CSCAs), incidence of chromosomal abnormalities, and correlations with age were determined. RESULTS: From 2001 to 2010, the proportion of women of advanced maternal age undergoing prenatal diagnosis increased from 20% to 46%. The mean age was 37.4 years (range, 35-46 years). A total of 708 cases of CSCAs, with a rate of 1.53% were found. Trisomy 21 was the most common single chromosome abnormality and accounted for 55.9% of all CSCAs with an incidence of 0.86%. Trisomy 13, trisomy 18, and trisomy 21, the most common chromosome autosomal aneuploidies, accounted for 73.6% of all CSCAs, with a rate of 1.13%. As a group, the most common chromosomal aneuploidies (13/18/21/X/Y) accounted for 93.9% of all abnormalities, with a rate of 1.44%. The incidence of trisomy 21, trisomy 13/18/21 as a group, and 13/18/21/X/Y as a group was significantly greater in women aged 39 years and older (p < 0.001), but was not different between women aged 35 years, 36 years, 37 years, and 38 years. CONCLUSION: These findings may assist in genetic counseling of advanced maternal age pregnant women, and provide a basis for the selection of prenatal screening and diagnostic technologies.


Subject(s)
Chromosome Aberrations/statistics & numerical data , Prenatal Diagnosis , Adult , Amniocentesis , China , Chromosome Disorders/epidemiology , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Down Syndrome/epidemiology , Female , Humans , Incidence , Karyotyping , Maternal Age , Middle Aged , Pregnancy , Pregnancy Trimester, Second , Retrospective Studies , Sex Chromosome Aberrations , Trisomy , Trisomy 13 Syndrome , Trisomy 18 Syndrome
19.
Cell Physiol Biochem ; 37(3): 879-89, 2015.
Article in English | MEDLINE | ID: mdl-26383633

ABSTRACT

BACKGROUND/AIMS: Our recent data indicated that Mipu1 overexpression reduces lipid intake and CD36 expression of macrophages in the presence of oxLDL. However, the mechanism of Mipu1 inhibiting lipid accumulation in macrophages is not elucidated. METHODS: Real-time quantitative polymerase chain reaction (PCR) and western blot analysis were used to detect expression of Mipu1 and CD36. The promoter activity of CD36 was studied using luciferase assays. Chromatin immunoprecipitation (ChIP) was used to show the recruitment of Mipu1 onto the CD36 promoter. High-performance liquid chromatography and Dil-labeled lipoprotein were used to detect cholesterol accumulation. RESULTS: Here, we show that CD36 overexpression rescues oxLDL-induced cholesterol accumulation in RAW264.7-Mipu1 cells. Analysis of the mouse CD36 promoter revealed two potential Mipu1-response elements (MRE), one of which (from -237bp to -244bp, ACTTAC) was shown, using mutagenesis and deletion analysis, to be functional. Mipu1 was demonstrated to bind to CD36 promoter, and oxLDL treatment resulted in increases in their interaction as assessed by ChIP. CONCLUSIONS: It was demonstrated that Mipu1 inhibited the lipid accumulation of macrophages and it down-regulated CD36 expression in the presence of oxLDL.


Subject(s)
CD36 Antigens/genetics , CD36 Antigens/metabolism , DNA-Binding Proteins/genetics , DNA-Binding Proteins/metabolism , Nuclear Proteins/genetics , Nuclear Proteins/metabolism , Animals , Binding Sites , CD36 Antigens/chemistry , Cholesterol/metabolism , Down-Regulation/drug effects , Lipid Metabolism/drug effects , Lipoproteins, LDL/pharmacology , Mice , Mutation , Promoter Regions, Genetic , RAW 264.7 Cells
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