Objective To explore the feasibility of coelocentesis in prenatal diagnosis.Methods Coelocentesis were applied on 58 women scheduled for at 6～12 weeks of gestation,and fetal heart rate before the procedure and 1,5,30 minutes afterwards and hemorrhage of amnionic cyst was observed.Y gene of sex-determining region was detected by polymerase chain reaction,and compared with chorionic villi sample.Results The total achievement ratio of coelocentesis was 96.6% of all cases in five minutes.The coelomic fluid was successfully aspirated at first attempt in 93.2% at 7～10 week's gestation,25.0% at 6～7weeks and 50.0% at 10 ~ 12 weeks.There was no significant difference in FHR between before coelocentesis and afterwards (P＞0.05).The detection accurate rate of SRY was 91.1%,all female fetus were matched with those observation by chorionic villi sampling,and only 5 male fetus were not matched,the accurate rate was 80.8%.Conclusion Coclocentesis has the advantage of simple procedure,safe and high feasibility.The optimal time of coclocentesis is in the 7th to 10th week of gestation.

OBJECTIVETo explore the impact of the socio-economic factors on the temperature-mortality association in different cities in southern China.

METHODSDaily mortality registration data, meteorological data and air pollution data of the cities as Changsha and Kunming during 2006-2009, and cities as Guangzhou and Zhuhai during 2006-2010, were collected to explore modifying effects, stratified by age, gender, education and place of death, of socio-economic factors on the association between temperature and mortality, by distributed lag non-linear model. The accumulative effect of temperature-mortality were separately analyzed in each city, under the high temperature (0-3 days) and low temperature (0-20 days) situation. The association between temperature and mortality was evaluated by general linear threshold model. The above process was firstly adopted to analyze the impact in single city and then Meta analysis was applied to analyze the impact in several cities by effect-combine.

RESULTSThe relationship between temperature and mortality in the four cities showed nonlinearity. The minimum mortality risk was separately 23.5 °C, 20.5 °C, 25.0 °C and 26.0 °C in Changsha, Kunming, Guangzhou and Zhuhai. The results of effect-combine showed that low-temperature (RR = 1.67, 95%CI:1.54-1.80) has a higher gross effect than high-temperature (RR = 1.11, 95%CI:1.01-1.18) on population. With the age increasing, risk of death increased both under high and low temperature situation, and the effect of low temperature was greater (RR = 1.83, 95%CI:1.65-2.04) for the elderly than it of high temperature (RR = 1.17, 95%CI:1.03-1.33). The mortality risk among females (cold and hot effects(95%CI) were 1.75(1.57-1.97) and 1.11(0.99-1.25), respectively)was higher than it among males (cold and hot effects(95%CI) were 1.59(1.45-1.77) and 1.11(1.03-1.19), respectively). Whereas the mortality risk on higher education population was significantly higher (cold and hot effects (95%CI) were 1.89(1.48-2.45)and 1.34(1.19-1.48), respectively) than it on other educated people.

CONCLUSIONAge, gender, educational level and place of death showed modifying effects on the association between temperature and mortality. The elderly, women and highly educated people were vulnerable to the temperature influence on mortality.

Aged ; Air Pollution ; China ; Cold Temperature ; adverse effects ; Female ; Hot Temperature ; adverse effects ; Humans ; Male ; Mortality ; Nonlinear Dynamics ; Risk ; Socioeconomic Factors

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective To estimate the effect of daily diurnal temperature range (DTR) on mortality in different areas in China.Methods A time series study using the data collected from 66 areas in China was conducted,and Meta-analysis was used to analyze the estimates of associations between DTR and daily mortality.Modifying effects of extremely low and high DTR-mortality relationship by season and socioeconomic status (SES) were also evaluated respectively.Cumulative excess risk (CER) was used as an index to evaluate the effects.Results The information about 1 260 913 registered deaths were collected between 1 January 2006 and 31 December 2011,we found the relationship between extreme DTR and mortality was non-linear in all regions and the exposure-response curve was J-shaped.In central and south areas of China,the result indicated the obvious acute effect of extremely high DTR,and the mortality effect in central area (CER=5.1％,95％CI:2.4％-7.9％) was significant higher than that in south area (CER=4.5％,95％CI:1.7％-7.3％).Regarding to the modification of seasons,the cumulative mortality effect of DTR in cold season (CER=5.8％,95％CI:2.5％-9.2％) was higher than that in hot season (CER=3.1％,95％CI:1.1％-5.1％).Generally,deaths among the elderly (≥75 years) were associated more strongly with extremely high DTR.Conclusions The mortality effects of extremely DTR in different areas and seasons showed different characteristics,that in central area and in cold season it was significantly stronger.After modified by season and SES,DTRs were the greatest threat to vulnerable population,especially to the elderly (≥75 years).Therefore,more attention should be paid to vulnerable groups and protection measures should be taken according to the local and seasonal conditions.

Background In recent years, the incidence of metabolic syndrome (MS) is increasing significantly in China. Some studies have found that temperature is related to single metabolic index, but there is a lack of research on associated mechanism and identifying path of the influence of temperature on MS. Objective Based on the data of Guangdong Province, to investigate the effect of temperature on MS and its pathway. Methods A total of 8524 residents were enrolled by multi-stage random sampling from October 2015 to January 2016 in Guangdong. Basic characteristics, behavioral characteristics, health status, and physical activity level were obtained through questionnaires and physical examinations, and meteorological data were obtained from meteorological monitoring sites. We matched individual data both with the temperature data of the physical examination day and of a lag of 14 d. A generalized additive model was used to explore the exposure-effect relationship between temperature and MS and its indexes, calculate effect values, and explore the effects of single-day lag temperature. Based on the literature and the results of generalized additive model analysis, a path analysis was conducted to explore the pathways of temperature influencing MS. Results The association between daily average temperature on the current day or lag 14 day and MS risk was not statistically significant. When daily average temperature increased by 1 ℃, the change values of fasting blood-glucose (FBG), systolic blood pressure (SBP), diastolic blood pressure (DBP), and high density lipoprotein cholesterol (HDL-C) were −0.033 (95%CI: −0.040-−0.026) mmol·L⁻¹, −0.662 (95%CI: −0.741-−0.583) mmHg, −0.277 (95%CI: −0.323-−0.230) mmHg, and −0.005 (95%CI: −0.007-−0.004) mmol·L⁻¹ respectively. The effects of average daily temperature on FBG, blood pressure, HDL-C, and waist circumference lasted until lag 14 day. The effects of daily average temperature on SBP and DBP were the largest on the current day. Daily average temperature of current day had direct and indirect effects on FBG and SBP. Temperature had an indirect effect on TG, and the intermediate variables were waist circumference and FBG, with an indirect effect value of −0.011 (95%CI: −0.020-−0.002). The indirect effects of daily average temperature on SBP, FBG, and TG were weak. Conclusion There is no significant correlation between temperature and risk of MS, and daily average temperature of current day could significantly affected blood pressure and FBG with a lag effect. Daily average temperature of current day has indirect effects on FBG and TG.

Objective To investigate the effect of dapagliflozin on myocardial work and energy metabolism in patients with heart failure with reduced ejection fraction(HFrEF)without type 2 diabetes mellitus(T2DM).Methods Patients with HFrEF without T2DM who visited Wuzhou People's Hospital from January 2021 to January 2022 were randomly divided into conventional group and dapagliflozin group(conventional treatment+dapagliflozin).After treatment(12 months),myocardial work[global work index(GWI),global constructed work(GCW),global wasted work(GW),and global work efficiency(GWE)],energy metabolism[(free fatty acids(FFA)and β-hydroxybutyric acid(β-HB)],traditional cardiac function[left ventricular end-diastolic diameter(LVEDD),left ventricular end-systolic diameter(LVESD),and left ventricular ejection fraction(LVEF)],clinical efficacy,prognosis[mortality,rehospitalization,and incidence of major adverse cardiovascular events(MACE)]and adverse reactions were compared between the two groups.Results A total of 128 patients with HFrEF without T2DM were enrolled,including 63 patients in the dapagliflozin group and 65 patients in the conventional group.After treatment,the LVEDD,LVESD,GWW,NT-pro BNP in the dapagliflozin group was significantly lower than that in the conventional group(P＜0.05),while the LVEF,GWI,GCW,GWE,β-HB acid and FFA were significantly higher than those in the conventional group(P＜0.05).The total effective rate and hypoglycemia rates in the dapagliflozin group were significantly higher than those in the conventional group(P＜0.05),and the rehospitalization rate and MACE rate were significantly lower than those in the conventional group(P＜0.05).There were no significant differences in mortality,renal adverse events,urinary tract infections and gastrointestinal symptoms between the two groups(P＞0.05).Conclusion Dapagliflozin has significant clinical efficacy in patients with HFrEF without T2DM,which can increase the serum levels of FFA and ketones,improve effective work,and reduce ineffective work,but it is necessary to be vigilant against hypoglycemia.

With technological advances in high-throughput sequencing, high resolution mass-spectrometry, and multi-omics data integrative tools and data repositories, the omics research in life sciences are evolving from single-omics strategy to multi-omics strategy. The research of system biology driven by multi-omics will bring a new paradigm in life sciences. This paper briefly summarizes the development of genomics, epigenomics, transcriptomics, proteomics and metabolomics, highlights the composition and function of multi-omics platforms as well as the applications of multi-omics technology, and prospects future applications of multi-omics in synthetic biology and biomedicine.
Genomics ; Proteomics/methods* ; Metabolomics/methods* ; Epigenomics/methods* ; Technology

Objective:To investigate the efficacy of venetoclax-based combined regimen in treatment of adult patients with acute myeloid leukemia (AML).Methods:The data of 50 adult AML (non-acute promyelocytic leukemia) who received venetoclax-based combined regimen in the First Affiliated Hospital of Xiamen University, Dongguan People's Hospital, the First Hospital of Longyan City, Jieyang People's Hospital from December 2018 to May 2021 were retrospectively analyzed. Different doses venetoclax combined with demethylation drugs or low-dose chemotherapy regimen were used to analyze the therapeutic efficacy. The related factors influencing efficacy were analyzed by using logistic regression.Results:The composite complete remission (CR) rate of 50 AML patients was 62.0% (31/50), the overall response rate (ORR) was 76.0% (38/50); 28 patients achieved effectiveness [CR and partial remission (PR)] after the first cycle and could achieve effectiveness by 3 courses of treatment at the latest. Among 50 patients, 28 cases were newly diagnosed AML, the composite CR rate was 60.8% (17/28), ORR was 78.6% (22/28); 22 cases were recurrent and relapsed, the composite CR rate was 63.6% (14/22), ORR was 72.7% (16/22); and there was no statistically significant difference of ORR between the both groups ( χ2 = 0.23, P = 0.743). Logistic regression multivariate analysis showed age was the only independent influencing factor for the treatment effectiveness ( OR = 8.451, 95% CI 1.306-54.697, P = 0.025). The median duration time of patients receiving venetoclax treatment regimen was 4.5 months (1.1-15.0 months); 16 cases who had treatment effectiveness finally relapsed, the median time of maintaining effectiveness was 5 months (1.1-11.0 months). Additionally, the common treatment-related adverse reactions included bone marrow suppression after treatment, followed by some gastrointestinal reactions like nausea, vomiting and stomachache. In addition, no patient stopped medication for more than 1 week due to bone marrow suppression related complications. Conclusion:Venetoclax-based combined regimen shows a good short-term efficacy in treatment of AML. It is also effective and tolerable for elderly patients receiving reduced dose therapy.

Neuronal apoptosis is one of the essential mechanisms of early brain injury after subarachnoid hemorrhage (SAH). Recently, HLY78 has been shown to inhibit apoptosis in tumor cells and embryonic cells caused by carbon ion radiation through activation of the Wnt/β-catenin pathway. This study was designed to explore the anti-apoptotic role of HLY78 in experimental SAH. The results demonstrated that HLY78 attenuated neuronal apoptosis and the neurological deficits after SAH through the activation of low-density lipoprotein receptor-related protein 6 (LRP6), which subsequently increased the level of phosphorylated glycogen synthesis kinase 3 beta (p-GSK3β) (Ser9), β-catenin, and Bcl-2, accompanied by a decrease of p-β-catenin, Bax, and cleaved caspase 3. An LRP6 small-interfering ribonucleic acid reversed the effects of HLY78. In conclusion, HLY78 attenuates neuronal apoptosis and improves neurological deficits through the LRP6/GSK3β/β-catenin signaling pathway after SAH in rats. HLY78 is a promising therapeutic agent to attenuate early brain injury after SAH.

Recent insights collectively suggest the important roles of lysyl oxidase (LysOX) in the pathological processes of several acute and chronic neurological diseases, but the molecular regulatory mechanisms remain elusive. Herein, we explore the regulatory role of LysOX in the seizure-induced ferroptotic cell death of neurons. Mechanistically, LysOX promotes ferroptosis-associated lipid peroxidation in neurons via activating extracellular regulated protein kinase (ERK)-dependent 5-lipoxygenase (Alox5) signaling. In addition, overexpression of LysOX via adeno-associated viral vector (AAV)-based gene transfer enhances ferroptosis sensitivity and aggravates seizure-induced hippocampal damage. Our studies show that pharmacological inhibition of LysOX with β-aminopropionitrile (BAPN) significantly blocks seizure-induced ferroptosis and thereby alleviates neuronal damage, while the BAPN-associated cardiotoxicity and neurotoxicity could further be reduced through encapsulation with bioresponsive amorphous calcium carbonate-based nanocarriers. These findings unveil a previously unrecognized LysOX-ERK-Alox5 pathway for ferroptosis regulation during seizure-induced neuronal damage. Suppressing this pathway may yield therapeutic implications for restoring seizure-induced neuronal injury.