Objective: To explore the relationship between lifestyle and myopia and construct Nomogram model to predict myopia risk among primary school students in Tianjin, so as to provide a scientific basis for precision myopia prevention and control. Methods: From April to July of 2022, a census method was used to conduct vision testing and lifestyle related questionnaires among 373 180 primary school students in 15 districts of Tianjin. The relationship between lifestyle and myopia was analyzed by the multivariate Logistic regression, and a nomogram prediction model was constructed to predict myopia risk. Results: The detection rate of myopia among primary school students in Tianjin was 37.6%. The results of the multivariate Logistic regression showed that daily outdoor activity time of 1-2 h ( OR =0.94) and >2 h ( OR =0.84), time of using daily electronic devices of >2 h ( OR =1.03), daily paper materials reading and writing time of 1-2 h ( OR =1.02) and >2 h ( OR =1.09), weekly fresh vegetable intake of 2-6 times ( OR =0.93) and ≥7 times ( OR =0.88) were statistically correlated with myopia ( P <0.01). The Nomogram prediction model showed that the factors associated with myopia were grade, family history of myopia, gender, daily outdoor activity time, weekly frequency of fresh vegetable intake, daily paper materials reading and writing time, and time of using daily electronic devices time. Conclusions The lifestyle of primary school students in Tianjin is associated with myopia. The constructed nomogram model could provide a scientific basis for identifying key intervention populations for myopia prevention and taking targeted prevention and control measures.

This paper summarizes the experience of professor DING Yuanqing in treating post-stroke depression （PSD） of young and middle-aged patients with the method of regulating qi and promoting blood circulation. PSD is a syndrome resulting by vascular injury and impairment of brain marrow and vital activity after the stroke. Factors such as poor lifestyle， improper control of chronic diseases and sleep disorders，etc.，which can be harmful individually， or they can interact. Over time，these factors can block yang of defensive qi，obstract blood circulationg and disturb qi movement. Reverse ascending of defensive qi can generate wind and fire，generate phlegm and stasis from the fluid the blood. Qi stagnation， phlegm and stasis can combined with stagnation heat， phlegm heat， blood stasis heat which caused by stroke ， which can further aggravate pulse accumulation， damage the blood vessels and block the collaterals. Consequently， defensive qi is floating over and nutrient qi is not smooth， resulting in inadequate nourishment of the brain marrow，and disfunction of vital activity， causing depressive symptoms. Professor DING innovatively applied the method of regulating qi and promoting blood circulation. He selected the classic prescriptions such as Guizhi Decoction（桂枝汤）， Baoyuan Decoction（保元汤）， as well as self-fitting prescriptions like Erdan Decoction（二丹汤）， Erzhu Decoction（二竹汤）， to relieve qi and tonify qi，promote harmonious blood circulation， facilitate vasodilation， ease symptoms of depression， invigorate the mind， and provide an effective treatment for PSD.

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.

Objective:To investigate the effect of polypeptide N-acetylgalactosaminaminyltransferase 2 (GALNT2) on the proliferation and apoptosis of human retinal vascular endothelial cells (HRCECs) cultured in high glucose and its possible mechanism.Methods:The small hairpin RNA (shRNA) targeting GALNT2 gene was constructed to interfere with the lentiviral vector and infect HRCECs.HRCECs were divided into blank control group, model group, NC-shGALNT2 group and shGALNT2 group, which were cultured in medium containing 5.5 mmol/L glucose, 25 mmol/L glucose, shGALNT2 negative control virus 25 mmol/L glucose and shGALNT2 knockdown virus 25 mmol/L glucose for 24 hours, respectively.The relative expression of GALNT2 mRNA in the four groups was detected by real-time fluorescence quantitative PCR.The relative expression levels of GALNT2, epidermal growth factor (EGF), EGF receptor (EGFR) and phosphorylated EGFR (p-EGFR) were detected by Western blot.The proliferative values of HRCECs were detected by cell counting kit-8 method.The apoptosis rate of different groups was detected by flow cytometry. Results:The relative expression levels of GALNT2 mRNA and protein were significantly higher in model group than in blank control group, and were significantly lower in shGALNT2 group than in blank control group (all at P<0.05). The cell proliferation value was significantly lower in model group than in blank control group, and was significantly higher in shGALNT2 than in model group and NC-shGALNT2 group (all at P<0.05). The apoptosis rates of blank control group, model group, NC-shGALNT2 group and shGALNT2 group were (4.73±0.26)%, (8.66±0.25)%, (9.26±1.12)% and (5.47±0.18)%, respectively, with a significant overall difference ( F=342.921, P<0.001). The apoptosis rate was significantly higher in model group than in blank control group, and was significantly lower in shGALNT2 group than in model group and NC-shGALNT2 group (all at P<0.05). The relative expression level of EGFR protein was significantly higher and the relative expression level of p-EGFR protein was significantly lower in model group than in blank control group (all at P<0.05). The relative expression of p-EGFR protein was significantly higher in shGALNT2 group than in model group (all at P<0.05). Conclusions:Knocking down GALNT2 can improve the proliferative ability of HRCECs under high glucose culture and reduce apoptosis, which may be related to the activation of EGFR signaling pathway.

Objective : To analyze the association between multiple loci of genes and the risk of early⁃onset pre⁃ eclampsia (EOPE) with pregnancy induced hypertension. Methods : Among 382 EOPE patients who had lived in Yanbian area for more than 10 years , 192 patients were randomly selected as case group. At the same time , 192 cases of natural delivery in the hospital were randomly selected as the control group. PCR⁃RFLP method was used to determine the specific genotype and allele distribution information , and non⁃conditional Logistic method was used to obtain odds ratio (OR) and 95% confidence interval (CI) to confirm the risk of various genotypes. Results : There were two alleles of T and C at the GRB2 rs8082005 locus , TC , TT , and CC genotypes. There were two alleles of T and C at the RXRA rs3849222 locus , TC , TT , and CC genotypes. Through unconditional logistic regression analysis , in the GRB2 rs8082005 locus , compared with the TT genotype , the CC genotype was more susceptible to EOPE ( OR = 3. 155 , 95% CI = 1. 513 - 6. 579 , P = 0. 002) . In the explicit model , compared to patients with TT+ TC genotype , patients with CC genotype increased the risk of EOPE ( OR = 3. 000 , 95% CI = 1. 495 - 6. 022 , P = 0. 002) . In the RXRA rs3849222 locus , compared with the CC genotype , the TT genotype was more susceptible to EOPE ( OR = 2. 031 , 95% CI = 1. 077 - 3. 820 , P = 0. 028) . In the invisible model , compared to patients with CC + CT genotype , patients with TT genotype had an increased risk of EOPE ( OR = 2. 549 , 95% CI = 1. 421 - 4. 573 , P = 0. 002) . Conclusion There is a significant correlation between single nucleotide polymorphism (SNP) at the GRB2 rs8082005 and RXRA rs3849222 loci and the risk of EOPE in pregnant women with gestational hypertension in Yanbian area.

Aristolochic acids (AAs) have long been considered as a potent carcinogen due to its nephrotoxicity. Aristolochic acid I (AAI) reacts with DNA to form covalent aristolactam (AL)-DNA adducts, leading to subsequent A to T transversion mutation, commonly referred as AA mutational signature. Previous research inferred that AAs were widely implicated in liver cancer throughout Asia. In this study, we explored whether AAs exposure was the main cause of liver cancer in the context of HBV infection in mainland China. Totally 1256 liver cancer samples were randomly retrieved from 3 medical centers and a refined bioanalytical method was used to detect AAI-DNA adducts. 5.10% of these samples could be identified as AAI positive exposure. Whole genome sequencing suggested 8.41% of 107 liver cancer patients exhibited the dominant AA mutational signature, indicating a relatively low overall AAI exposure rate. In animal models, long-term administration of AAI barely increased liver tumorigenesis in adult mice, opposite from its tumor-inducing role when subjected to infant mice. Furthermore, AAI induced dose-dependent accumulation of AA-DNA adduct in target organs in adult mice, with the most detected in kidney instead of liver. Taken together, our data indicate that AA exposure was not the major threat of liver cancer in adulthood.

Objective: To investigate the effects of cathepsin S(Cat S) on proliferation, migration and invasion of osteosarcoma cells and its potential regulatory mechanism. Methods: Normal osteoblasts(hFOB) and osteosarcoma cells(SAOS2 and MG63) were selected as the subjects of this study.Cat S small interfering(si) RNA(si-Cat S) and negative control sequence(si-NC) were transfected into SAOS2 and MG63 cells to modulate the expression of Cat S in osteosarcoma cells.The experimental cells were randomly divided into four groups: hFOB group(hFOB cells),Control group(untransfected SAOS2 or MG63 cells),si-NC group(SAOS2 or MG63 cells transfected with si-NC) and si-Cat S group(SAOS2 or MG63 cells transfected with si-Cat S).The expression of Cat S in SAOS2 and MG63 cells was detected by RT-PCR and Western blot.Effect of Cat S knockdown on the proliferation of SAOS2 and MG63 cells was assessed by CCK-8 and clone formation assays.And effects of Cat S knockdown on the migration and invasion of SAOS2 and MG63 cells were determined by wound-healing and Transwell assays, respectively.Western blot assay was performed to measure the effects of SAOS2 knockdown on the expressions of apoptosis-related proteins(Bcl-2,Bax and Caspase-3) and Wnt/β-catenin pathway related proteins(LRP5,β-catenin, C-myc and Cyclin D1) in SAOS2 cells. Results: Compared with hFOB group, the expression of Cat S in SAOS2 group and MG63 group was upregulated(P<0.001).In addition, compared with si-NC group, the proliferation, migration and invasion of cells in si-Cat S group were reduced(P<0. 001). Results of Western blot showed that compared with si-NC group,the expression of Bcl-2 in si-Cat S group was downregulated,while the expression of Bax and Caspase-3 were upregulated(P<0. 001). Meanwhile,compared with si-NC group,the expression of LRP5,β-catenin,C-myc and Cyclin D1 in si-Cat S group was downregulated(P<0. 001). Conclusion Cat S siRNA knockdown can inhibit the proliferation,migration and invasion of osteosarcoma cells and induce apoptosis by regulating Wnt/β-catenin pathway,indicating that Cat S may be one of the potential targets for the treatment of osteosarcoma.

Peroral endoscopic myotomy (POEM) has emerged as a rescue treatment for recurrent or persistent achalasia after failed initial management. Therefore, we aimed to investigate the efficacy and safety of POEM in achalasia patients with failed previous intervention. We searched the MEDLINE, Embase, Cochrane, and PubMed databases using the queries “achalasia,” “peroral endoscopic myotomy,” and related terms in March 2019. Data on technical and clinical success, adverse events, Eckardt score and lower esophageal sphincter (LES) pressure were collected.The pooled event rates, mean differences (MDs) and risk ratios (RR) were calculated. A total of 15 studies with 2,276 achalasia patients were included. Overall, the pooled technical success, clinical success and adverse events rate of rescue POEM were 98.0% (95% confidence interval [CI], 96.6% to 98.8%), 90.8% (95% CI, 88.8% to 92.4%) and 10.3% (95% CI, 6.6% to 15.8%), respectively. Seven studies compared the clinical outcomes of POEM between previous failed treatment and the treatment naïve patients. The RR for technical success, clinical success, and adverse events were 1.00 (95% CI, 0.98 to 1.01), 0.98 (95% CI, 0.92 to 1.04), and 1.17 (95% CI, 0.78 to 1.76), respectively. Overall, there was significant reduction in the pre- and post-Eckardt score (MD, 5.77; p<0.001) and LES pressure (MD, 18.3 mm Hg; p<0.001) for achalasia patients with failed previous intervention after POEM. POEM appears to be a safe, effective and feasible treatment for individuals who have undergone previous failed intervention. It has similar outcomes in previously treated and treatment-naïve achalasia patients.

Objective:To analyze the causes of death of elderly inpatients,so as to provide direction for the precaution of geriatrics.Methods:The first page data of hospitalized medical records of elderly inpatients in medical department in the Second Hospital of Dalian Medical University from 2102 to 2019 were extracted, and the causes of death were analyzed. The statistical analysis was performed by Excel and SPSS 21.0 statistical software.Results:The number of deaths of elderly inpatients in medical department from 2012 to 2019 was 5 249. The proportion of deaths in ICU was 34.43%(1 807/5 249), in oncology department was19.03%(999/5 249), and in cardiovascular department was12.08%(634/5 249). The average age was (78.52 ± 7.82) years. Besides, the age of men was younger than women: (78.18 ± 8.00) years vs. (79.02 ± 7.52) years, and the differences was statistically significant ( P<0.01). Men(59.1%, 3 099/5 249) were more than women (40.96%, 2 150/5 249). The largest number of deaths was in the age of 75-84 years (42.56%, 2 234/5 249). The number of cases with combined above five diseases was 4 552(86.72%, 4 552/5 249). The top three causes of deaths of elderly inpatients in medical department from 2012 to 2019 were cardiocerebrovascular diseases (27.21%, 1 428/5 249), malignant tumor (25.74%, 1351/5 249) and respiratory system diseases (22.10%, 1160/5 249). From 2012 to 2015, the top three causes of deaths were malignant tumor, cardiocerebrovascular diseases and respiratorysystem diseases. From 2016 to 2019,the top three causes of deaths were cardiocerebrovascular diseases, malignant tumor, and respiratory system diseases. The most common cause in cardiocerebrovascular diseases of death was coronary heart disease (51.47%,735/1 428), cerebrovascular disease (43.70%,624/1 428),and hypertension(4.34%, 62/1 428). Among the patients with malignant tumor death, first cause of death waslung malignant tumor (37.53%, 507/1 351), the others in turn were gastric carcinoma (11.10%,150/1 351) and intestinal cancer (11.10%,150/1 351). Among the patients with respiratory system diseases, first cause of death was pulmonary infection (69.66%,808/1 160), the others in turn were chronic obstructive pulmonary disease (15.43%, 179/1 160) and interstitial lung disease (5.09%, 59/1 160). Conclusions:The average age of elderly inpatients in medical department is (78.52 ± 7.82) years. The death age of male is less than that of female, and the number is slightly more than that of female. The top three causes of deaths of elderly inpatients in medical department are cardiocerebrovascular diseases, malignant tumor, respiratorysystem diseases. From 2012 to 2015 the first cause of deaths is malignant tumor. From 2016 to 2019, the cardiocerebrovascular diseases rise to the first.