Objective To carry out carrier screening for spinal muscular atrophy(SMA)in 3 302 preg-nant women from Xinjiang region and preliminarily determine the SMA carrier frequency among pregnant women in the region.Methods A total of 29 089 pregnant women who underwent prenatal visits at this hos-pital from April 2020 to February 2023 were educated,of whom 3 302 were received SMA carrier screening.SMA carriers were screened by detecting the copy numbers of SMN1 exons 7(E7)and 8(E8)using quantita-tive fluorescence PCR.Multiplex ligation-dependent probe amplification(MLPA)was used for prenatal diag-nosis of high-risk fetuses in couples who were both SMA carriers.Results The acceptance rate of SMA carri-ers screening was 11.35％.Among the 3 302 pregnant women,58 were found to be SMA carriers,and the total carrier frequency was 1.76％(1/57).Among them,there were 45 cases of Han ethnicity,with a carrying fre-quency of 1.63％(1/61),and there were 13 cases of ethnic minorities,with a carrying frequency of 2.39％(1/42).Among the 58 carriers,46 spouses were received SMA screening,and the results showed that two couples were both SMA carriers.Further prenatal diagnosis was performed,and the results of MLPA indicated that the fetuses were all heterozygous deletions of SMN1 E7 and E8,suggesting continued pregnancy.Conclusion This study has preliminarily determined the SMA carrier frequency among pregnant women in Xinjiang region.SMA carrier screening in pregnant women and prenatal diagnosis of high-risk fetuses are of great significance for the prevention and control of birth defects.

Objective:To evaluate the effect of urinary albumin creatinine ratio (UACR) on diabetic retinopathy (DR) in patients with type 2 diabetes. Receiver operating characteristic (ROC) curve was applied to find the cut-off value of UACR for diagnosing DR.Methods:A prospective cohort study of 2 490 patients with type 2 diabetes was conducted with a mean follow-up of 7 years ranging from 3 to 10 years. Dilated fundus examination was performed once a year, and patient history and clinical data were collected and analyzed. Patients were divided into three groups according to the UACR: Q1, normal urinary albumin group (UACR<30 mg/g), Q2, microalbuminuria group (30 mg/g≤UACR≤299 mg/g), and Q3, macroalbuminuria group (UACR>300 mg/g), respectively. Cox regression analysis was used to explore the influence of UACR and other factors on DR, and ROC curve was drawn to evaluate the value of UACR in diagnosis of DR.Results:Cox regression analysis showed that UACR was the risk factor of DR( HR=1.108, 95% CI 1.023-1.241, P<0.001). It showed that the patients in Q3 group had the highest risk of proliferative DR ( HR=3.128, 95% CI 2.025-4.831, P<0.001), the patients in Q2 group followed( HR=1.918, 95% CI 1.355-2.714, P<0.001), and the patients in Q1 group were the lowest. ROC curve analysis showed that area under UACR curve was 0.746(95% CI 0.681-0.812, P<0.001), and the cut-off value, sensitivity, and specificity for the diagnosis of PDR were 54.12mg/g, 0.769, and 0.653, respectively. Conclusion:The UACR can predict the progression of PDR in type 2 diabetes patients, therefore it may be used as a preliminary predictor for the progression of DR.

Objective:To analyze the effects of different blood pressure variables and their variabilities on diabetic nephropathy(DN)in patients with type 2 diabetes.Methods:This prospective cohort study included 3 050 type 2 diabetic patients without DN at baseline from Lee′s clinic in Taiwan, China. The metabolic parameters of patients were regularly checked, and urine albumin creatinine ratio(UACR)were evaluated annually. The average follow-up period was 7 years(3-10 years). The means and standard deviations(SD)of systolic blood pressure(SBP), diastolic blood pressure(DBP), pulse pressure(PP), and mean arterial pressure(MAP)were calculated. According to whether SBP-Mean was higher or lower than 130 mmHg(1 mmHg=0.133 kPa) and SBP-SD was higher or lower than 11.06 mmHg(average SBP-SD), these patients were divided into four groups: Q1(SBP-Mean<130 mmHg, SBP-SD<11.06 mmHg); Q2(SBP-Mean<130 mmHg, SBP-SD≥11.06 mmHg); Q3(SBP-Mean≥130 mmHg, SBP-SD<11.06 mmHg); Q4(SBP-Mean≥130 mmHg, SBP-SD≥11.06 mmHg). In the same way, according to whether PP-Mean was higher or lower than 80 mmHg(average PP-Mean)and PP-SD was higher or lower than 6.48 mmHg(average PP-SD), the patients were divided into Q1-Q4 groups.Results:After adjusting age, sex, and diabetes duration, Cox regression analysis showed that SBP-Mean, SBP-SD, PP-Mean, and PP-SD were the risk factors of DN. After the stratification according to SBP-Mean and SBP-SD, the patients in Q4 group( HR=1.976, P<0.001)had the highest risk while those in Q1 group displayed the lowest risk for DN. Additionally, the patients in Q3 group( HR=1.614, P<0.001)imposed a higher risk than that in Q2 group( HR=1.408, P<0.001). By stratificating the patients based on PP-Mean and PP-SD, the patients in Q4 group revealed the highest risk of DN( HR=1.370, P<0.001)while those in Q1 group had the lowest risk. In addition, the patients in Q3 group( HR=1.266, P<0.001)had a higher risk of DN compared with those in Q2 group( HR=1.212, P<0.001). Conclusion:SBP and PP variabilities are the predictors of DN in patients with type 2 diabetes.

Objective:To fully understand the maternal and neonatal outcomes in pregnant women with COVID-19 and explore the evidence of intrauterine vertical transmission of 2019-nCoV by analyzing clinical and laboratory information in peer-reviewed publications on COVID-19 in pregnant women.Methods:PubMed, Embase, China National Knowledge Infrastructure, China Academic Journals, and Wanfang Databases were searched to retrieve articles on COVID-19 in pregnancy published from December 1, 2019, to April 9, 2020. In addition, the World Health Organization COVID-19 Database and the reference lists in each included article were also searched. All included cases were positive for 2019-nCoV nucleic acid with maternal and neonatal outcomes regardless of delivery or not. Clinical manifestations, perinatal and neonatal outcomes were analyzed systematically.Results:This study reviewed 29 publications involving 146 pregnant women who tested positive for 2019-nCoV nucleic acid and their 116 newborns (including two twins). Five cases of severe COVID-19 and three cases of unidentified type that were admitted to ICU for treatment were severe symptoms, accounting for 5.5% (8/146) of all cases. Totally, 69.9% (102/146) of the women underwent cesarean section and 8.2% (12/146) gave birth vaginally. Thirty (20.5%) women continued their pregnancies. One case (0.7%, 1/146) terminated the pregnancy at 26 weeks of gestation due to bidirectional affective disorder and one (0.7%, 1/146) received artificial abortion at 6 weeks of gestation. Fever (58.2%, 85/146) and cough (32.9%, 48/146) were the most common symptoms. However, 15.8% (23/146) of the pregnant women were asymptomatic on admission and symptoms appeared or became worse after delivery in 20.5% (30/146). Lymphocytopenia (49.6%, 56/113) and elevated C-reactive protein (58.4%, 66/113) were the main laboratory findings. The most common computed tomography (CT) finding was bilateral multiple patchy ground-glass opacity in lungs (79.7%, 94/118). The outcomes of 92.2% (107/116) of the newborns were good, and the rest 7.8% (9/116) showed different abnormalities of varying degrees. Among the nine newborns, six showed different degrees of dyspnea, cyanosis and vomiting including one died of multiple organ failure and disseminated intravascular coagulation; one tested positive for viral nucleic acid 36 hours after birth; one was stillbirth due to unknown reason, but intrauterine vertical transmission was excluded; one neonatal death in a critically ill mother undergoing cesarean delivery.Conclusions:Pregnant women are less likely to progress to severe COVID-19 and mostly have a good outcome. Despite reports of adverse neonatal outcomes, evidence of intrauterine vertical transmission of 2019-nCoV remains insufficient.

Objective:To explore the effects of standardized enteral nutrition process in critically ill patients.Methods:We retrieved PubMed, EMBASE, MEDLINE, WanFang Data, China National Knowledge Infrastructure (CNKI) and China Biology Medicine (CBM) by computer to collect literatures on effects of standardized enteral nutrition process in critically ill patients from the establishment of database to May 31, 2019. RevMan 5.3 was used to statistical analysis.Results:Finally, 11 articles were included. Meta-analysis results showed that compared with conventional care, the standardized enteral nutrition process could increase the calorie compliance rate of critical ill patients on the seventh day [ OR=8.18, 95% CI (4.91, 11.45) , P<0.01], and reduce the incidence of feeding intolerance symptoms [ OR=0.36, 95% CI (0.23, 0.57) , P<0.01]. However, the standardized enteral nutrition process did not show obvious advantages in shortening mechanical ventilation, Intensive Care Unit (ICU) hospitalization time and reducing mortality, combined effects, the combined effect was not statistically significant ( P>0.05) . Conclusions:The standardized enteral nutrition process could effectively increase the calorie compliance rate of critical ill patients on the seventh day and reduce the incidence of feeding intolerance symptoms; however, it cannot significantly shorten the time of mechanical ventilation, ICU hospitalization time and reduce the mortality. Further research is needed for verification.

Critical ill children are generally at risk of malnutrition.Malnutrition can reduce immunity and cause a series of problems such as growth and development stagnation, increased infections and aggravation of illness. Early nutritional support is an important part of treatment and an important guarantee for successful treatment of children. This article reviews the status of early enteral nutrition, intolerance-related symptoms, tolerance monitoring and process management in critical ill children.

Intra-abdominal hypertension can reduce the perfusion of the mesenteric artery, block venous return and reduce gastrointestinal function due to intestinal edema. And the delay of intestinal emptying can easily cause intestinal edema, which further increases intra-abdominal pressure and forms a vicious circle. Nutritional support plays an important role in treatment of severe patients with abdominal hypertension, as people have a deeper understanding of the importance of central organ of the intestinal stress response and the function of the intestinal barrier. This paper summarizes the implementation of enteral nutrition management for severe patients with abdominal hypertension, implements the standardized process of enteral nutrition implementation, evaluates nutritional risks, calculates target calorie intake and dynamically monitors intra-abdominal pressure, so as to ensure safety and effectiveness of patients in the process of nutritional support and to improve nutritional indexes and prognosis.

Objective To explore the tutorial system of biomedical engineering students in medical colleges and universities,and provide useful references for the implementation of undergraduate tutorial system in medical colleges and universities in China.Methods Based on the compulsory professional knowledge and skills of biomedical engineering students,the undergraduate tutorial system of biomedical engineering specialty was analyzed and summarized with thatof School of Biomedical Engineering of the Fourth Military Medical University taken as an example.Results The necessity,problems and new mode were pointed out for the undergraduate tutorial system of biomedical engineering specialty.Conclusion The implementation of undergraduate tutorial system is a new idea of deepening the reform of undergraduate education in biomedical engineering specialty,and is of important significance to improve the professional skills of students.

Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks). Among them, five cases had no effect and two cases were seizure free recently. A case with GABRB3 (C.905A>G) had seizure controlled for 3 mouths. A case with ARX (C.700G>A) had seizure controlled for 6 mouths. Conclusion The early onset epileptic spasm with unknown reason is highly related to genetic disorders. A variety of genetic mutations, especially new mutations were found. Genetic heterogeneity of epileptic spasm is obvious.

Background and objective Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs)significantly improve the survival of advanced lung adenocarcinoma patients harboring EGFR mutation.Limited to the standards of tumor tissue samples and detection methods,still some people can't receive target therapy following genetic guidance.This study was to explore the relevance between serum tumor markers and treatment of EGFR-TKIs.Methods We retrospectively collected the clinical information of advanced lung adenocarcinoma patients harboring EGFR mutation,who received EGFR-TKIs as first-line therapy from June 2009 to June 2014 in Peking University Cancer Hospital,analyzed the relationship between serum tumor markers and efficacy of EGFR-TKIs.Results The objective response rate (ORR)was 52.8％ and the disease control rate (DCR) was 89.3％.The results showed that,patients with high CEA level before treatment responded better to TKIs (ORR 61.3％ vs 35.9％,DCR 95.2％ vs 74.4％,P＜0.001).Similar phenomena was found in patients with CEA decreased 1 month later (61.5％ vs 25％,P=0.002).Progression-free survival (PFS) significantly prolonged in patients with elevated baseline CEA (mPFS 9.8 mo vs 5.9 mo,P=0.027).To the opposite,PFS was significantly shorter in patients with elevated baseline CYFRA21-1 and CA125 (mPFS 9.0 mo vs 11.4 mo,P=0.029;9.0 mo vs 11.5 mo,P=0.023,respectively).Multivariate analysis showed that Eastern Cooperative Oncology Group (ECOG) score of 0-1,normal baseline CYFRA21-1 and CEA decline predicted longer PFS.The overall survival (OS) was highly associated with elevated CYFRA21-1 and CA125 (median OS 25.1 mo vs 52.5 mo,P=0.003;22.7 mo vs 55.0 mo,P＜0.001,respectively),while independent of CEA.Conclusion High level of baseline CEA and decline 1 month after treatment could predict the efficacy of EGFR-TKIs in patients with advanced lung adenocarcinoma.While high levels of baseline CYFRA21-1 and CA125 indicated shortened survival.