Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

ObjectiveTo investigate the effect of Gegen Qinliantang （GGQLT）-medicated serum on free fatty acid （FFA）-induced nonalcoholic steatohepatitis （NASH） in vitro model of human hepatoma cells HepG2. MethodNASH model of HepG2 cells was established in vitro， and the cells were intervened with different volume fractions of GGQLT-medicated serum and resveratrol. Intracellular lipid deposition in each group was detected by oil red O staining， the level of reactive oxygen species （ROS） in each group were detected by flow cytometry， the levels of glutathione peroxidase （GSH-Px）， superoxide dismutase （SOD）， triglyceride （TG） and malondialdehyde （MDA） in each group were detected by kits. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was used to measure the mRNA expression levels of nuclear transcription factor （NF）E₂-related factor 2 （Nrf2）， heme oxygenase-1 （HO-1）， quinone oxidoreductase 1 （NQO1）， Kelch-like epichlorohydrin-associated protein-1 （Keap1）， NF-κB， thioredoxin interacting protein （TXNIP）， interleukin-1β （IL-1β） in HepG2 cells of each group. The protein expression of Nrf2， TXNIP in cells of each group was detected by Western blot. ResultFFA induced large accumulation of intracellular lipids. Compared with the normal group， the activities of GSH-Px and SOD were significantly decreased （P<0.01） and the contents of TG， ROS and MDA were significantly increased （P<0.05， P<0.01） in the model group. Compared with the model group， all GGQLT groups and resveratrol group could elevate intracellular SOD activity to different degrees （P<0.05， P<0.01） and significantly reduce the levels of intracellular ROS and MDA （P<0.05， P<0.01）， GGQLD high- and medium-dose groups and resveratrol group significantly elevated GSH-Px activity （P<0.01）， GGQLD medium- and low-dose groups and resveratrol group significantly decreased TG content （P<0.05， P<0.01）. Compared with the model group， GGQLT high- and medium-dose groups and resveratrol group could significantly upregulate the mRNA expression levels of Nrf2， HO-1 and NQO1 （P<0.01）， all GGQLT groups and resveratrol group could significantly downregulate the TXNIP protein expression level， as well as significantly downregulate the mRNA expression levels of Keap1， NF-κB （P<0.05， P<0.01）. Nrf2-siRNA transfection of cells revealed that Nrf2 expression was significantly downregulated （P<0.01） in the Nrf2-siRNA group of cells by comparing with NC-siRNA group at the corresponding dose of drugs， and the inhibitory effects of GGQLT and resveratrol on TXNIP， IL-1β were attenuated. ConclusionFFA induces the production of ROS and inflammatory factors in HepG2 cells， and GGQLT can improve the anti-inflammatory and antioxidant capacities of cells， and its mechanism may be related to the regulation of Nrf2/TXNIP signaling pathway， so as to improve NASH.

Abstract Since the first confirmed human infection with avian influenza A(H5N1) virus was reported in Hong Kong SAR (China) in 1997, sporadic zoonotic avian influenza viruses causing human illness have been identified globally with the World Health Organization (WHO) Western Pacific Region as a hotspot. A resurgence of A(H5N1) occurred in humans and animals in November 2003. Between November 2003 and September 2017, WHO received reports of 1838 human infections with avian influenza viruses A(H5N1), A(H5N6), A(H6N1), A(H7N9), A(H9N2) and A(H10N8) in the Western Pacific Region. Most of the infections were with A(H7N9) (n = 1562, 85%) and A(H5N1) (n = 238, 13%) viruses, and most (n = 1583, 86%) were reported from December through April. In poultry and wild birds, A(H5N1) and A(H5N6) subtypes were the most widely distributed, with outbreaks reported from 10 and eight countries and areas, respectively. Regional analyses of human infections with avian influenza subtypes revealed distinct epidemiologic patterns that varied across countries, age and time. Such epidemiologic patterns may not be apparent from aggregated global summaries or country reports; regional assessment can offer additional insight that can inform risk assessment and response efforts. As infected animals and contaminated environments are the primary source of human infections, regional analyses that bring together human and animal surveillance data are an important basis for exposure and transmission risk assessment and public health action. Combining sustained event-based surveillance with enhanced collaboration between public health, veterinary (domestic and wildlife) and environmental sectors will provide a basis to inform joint risk assessment and coordinated response activities.

Objective To explore the effects of therapeutic communication skills on violent behaviors in patients with schizophrenia. Methods From January to December 2014 in one level three class A psychiatric hospital, 267 hospitalized male schizophrenic was selected as experimental group undergoing therapeutic communication skills, while another 258 hospital male schizophrenic who had homogenesis as patients in the experimental group at the same time in another ward were chosen as control group receiving routine nursing. The indexes of violent behaviors incidence and protective constraint usage rate were used to assess nursing effects. Results Violent behavior incidence was 32. 58% in the experimental group which was apparently lower than 65. 12% in the control group (χ2 =55. 59, P<0. 01);the usage rate of protective constraint was 73. 56% of the experimental group lower than 85. 71% in the control group (χ2 =5. 63, P<0. 01). Conclusions Therapeutic communication skills effectively reduce the incidence of violent behaviors in patients with schizophrenia and the usage of protective constraints. Therapeutic communication skills also can relieve the complications and tensions between doctors and patients, thus deserve the promotion in psychiatry nursing.

Objective To summarize the key nursing points in patients with monochorionic twins undergoing selective feticide with bipolar electrocoagulation.Methods Selective feticide with bipolar electrocoagulation were performed in 68 monochorionic twins with one twin anomaly.And the perioperative care was performed on the patients.Results Operations were accomplished successfully in 68 cases.No complications,such as infections,premature rupture of membrane and so on,were found in all cases seven days after operation.Conclusions The nursing key points include preoperative psychological nursing by interpretation of the operations,monitoring fetal heart sounds during operations,and close observation of body temperature,uterine contractions and fetal heart rate in pregnant women after operations.Careful perioperative nursing is helpful for improvement of operative success and to ensure normal development of fetus.

Objective To evaluate the changes in the expression of small intestinal thioredoxin 2 (Trx2) during different periods after orthotopic liver autotransplantation (OLAT) in rats.Methods Forty Sprague-Dawley rats,aged 8-10 weeks,weighing 210-260 g,were randomly divided into 2 groups using a random number table:sham operation group (group S,n =8) and OLAT group (n =32).Intestinal tissues were removed at 4,8,16 and 24 h after OLAT for microscopic examination and for determination of the levels of superoxide anion (O2--),hydrogen peroxide (H2 O2),glutathione peroxidase (GSH-Px),reduced glutathione (GSH) and Trx2.Intestinal damage was assessed and scored according to Chiu.Results Compared with S group,the Chiu's score and O2--activity at 4,8 and 16 h after OLAT and H2O2 content at 4 and 8 h after OLAT were significantly increased,and the levels of GSH-Px and GSH and expression of Trx2 at 4 and 8 h after OLAT were decreased in OLAT group (P ＜ 0.05).Chiu' s score at 4,16 and 24 h after OLAT and H2O2 content at 16 and 24 h after OLAT were significantly lower than those at 8 h in OLAT group (P ＜ 0.05).Conclusion The rats undergo decreased antioxidant capacity in the early phase and recovery in the late phase mediated by small intestinal Trx2 after OLAT.

[Objective] To summarize the perioperative nursing points during the amnioreduction by fast and negative pressure drainage.[Methods] Amniodrainage and associated nursing care were performed in 93 hydramnios cases of pregnant women from January 2006 to December 2010,and the nursing key points were summarized.[Results] Operations were performed successfully in 93 hydramnios cases of pregnant women.No complications occurred in 92 eases 3 d after operation.Bellyache and uterine contraction occurred in one case 2h after operation,which indicated placental abruption,two dead fetuses were got out by cesarean section.[Conclusions] The nursing key points included preoperative psychological nursing by interpretation of the operation,monitoring fetal heart sounds and close observation of contrac-tions in pregnant women.Careful perioperative nursing for patients with hydramnios is important to improve the success rate and reduce postoperative complications.