Objective:To investigate the clinical application value of expanded non-invasive prenatal testing(NIPT-plus)in screening for fetal chromosome copy number variations(CNV).Methods:From January 2021 to December 2023,141 pregnant women who voluntarily underwent amniocentesis at the Prenatal Diagnostic Centre of Urumqi Maternal and Child Health Hospital due to NIPT-plus suggesting a high risk of fetal CNV were selected.Amniotic fluid samples were collected for fetal chromosome karyotyping and chromosome microarray analysis(CMA).Pregnant women who underwent the above tests signed an informed consent form,and all cases were followed up forpregnancy outcome.Results:Among 141 NIPT-plus screen positive pregnant women,41 true posi-tive cases were detected by chromosomal karyotype analysis and CMA.The positive predictive value(PPV)for NIPT-plus screening for CNV was 29.08％(41/141).There was no statistically significant difference(P＞0.05)in the PPV of CNV detected by NIPT plus among different ages,indications and variant types.However,the PPV of CNV size＜10 Mb was significantly higher than that of CNV size≥ 10 Mb,and the difference was statistically signif-icant(39.62％vs.22.73％,P＜0.05).Among the 41 true positive cases,in addition to CNV,the CMA also detec-ted 7 cases of regions of Homozygosity(ROH),accounting for 17.07％(7/41)of the cases,two of which involved imprinted genes located on chromosomes 6 and 7.All continued pregnancy after genetic counselling and no signif-icant abnormalities were seen at neonatal follow-up after birth.Conclusions:NIPT-plus screening for fetal CNV has some clinical value,especially for CNV with fragment size＜10Mb,but accuracy needs to be further improved;CMA as a molecular diagnostic technique can detect ROH in cases where NIPT-plus suggests CNV abnormali-ties,and the combined use of the two techniques also opens new avenues for screening and diagnosis of prenatal imprinted diseases.

Objective:To investigate the clinical application value of expanded non-invasive prenatal testing(NIPT-plus)in screening for fetal chromosome copy number variations(CNV).Methods:From January 2021 to December 2023,141 pregnant women who voluntarily underwent amniocentesis at the Prenatal Diagnostic Centre of Urumqi Maternal and Child Health Hospital due to NIPT-plus suggesting a high risk of fetal CNV were selected.Amniotic fluid samples were collected for fetal chromosome karyotyping and chromosome microarray analysis(CMA).Pregnant women who underwent the above tests signed an informed consent form,and all cases were followed up forpregnancy outcome.Results:Among 141 NIPT-plus screen positive pregnant women,41 true posi-tive cases were detected by chromosomal karyotype analysis and CMA.The positive predictive value(PPV)for NIPT-plus screening for CNV was 29.08％(41/141).There was no statistically significant difference(P＞0.05)in the PPV of CNV detected by NIPT plus among different ages,indications and variant types.However,the PPV of CNV size＜10 Mb was significantly higher than that of CNV size≥ 10 Mb,and the difference was statistically signif-icant(39.62％vs.22.73％,P＜0.05).Among the 41 true positive cases,in addition to CNV,the CMA also detec-ted 7 cases of regions of Homozygosity(ROH),accounting for 17.07％(7/41)of the cases,two of which involved imprinted genes located on chromosomes 6 and 7.All continued pregnancy after genetic counselling and no signif-icant abnormalities were seen at neonatal follow-up after birth.Conclusions:NIPT-plus screening for fetal CNV has some clinical value,especially for CNV with fragment size＜10Mb,but accuracy needs to be further improved;CMA as a molecular diagnostic technique can detect ROH in cases where NIPT-plus suggests CNV abnormali-ties,and the combined use of the two techniques also opens new avenues for screening and diagnosis of prenatal imprinted diseases.

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 explore the relationship between neck muscle strength and elastic strain of flying personnel by comparing the changes of neck muscle elastic strain values and neck muscle strength before and after neck muscle training in flying personnel with neck pain.Methods:By using CME-1 neck muscle strength trainer, 56 flying personnel were trained under isometric and changeable velocity and resistant (CVR) training mode for 2 weeks. The neck muscle strength and neck muscle elastic strain values before and after training were compared.Results:The elastic strain values of longus colli, splenius capitis and levator scapula were significantly increased by neck muscle training ( t=4.154, 2.348, 2.745, P<0.001, P=0.040, 0.006). The relative growth rate of the average elastic strain values of longus colli, splenius capitis and levator scapula after training was 13.75%, 4.18% and 2.8%, respectively. After neck muscle training, the average maximum neck muscle strength and average 10 s maximum impulse in the directions of forward flexion, backward extension, left flexion and right flexion were higher than those before training, and the difference was statistically significant ( t=3.364-8.284, all P<0.01); The relative growth rate of the average maximum neck muscle strength in each direction was 39.3%, 34.6%, 35.2% and 28.4%, respectively, and the relative growth rate of the average 10 s maximum impulse was 51.4%, 33.6%, 42.7% and 34.5%, respectively. The elastic strain values of levator scapula and longus colli were negatively correlated with the average maximum muscle strength of anterior flexor ( r=-0.281, -0.387, P=0.036, 0.004). Conclusions:Neck muscle training can effectively improve the strength of neck muscle groups and the elastic strain of some muscle groups. The elastic strain values of levator scapula and longus colli are negatively correlated with the average maximum muscle strength of anterior flexor, those suggesting that neck muscle training has a certain effect on enhancing the activity of anterior flexor muscle groups and maintaining the physiological lordosis of cervical spine.

Objective:To explore the relationship between neck muscle strength and elastic strain of flying personnel by comparing the changes of neck muscle elastic strain values and neck muscle strength before and after neck muscle training in flying personnel with neck pain.Methods:By using CME-1 neck muscle strength trainer, 56 flying personnel were trained under isometric and changeable velocity and resistant (CVR) training mode for 2 weeks. The neck muscle strength and neck muscle elastic strain values before and after training were compared.Results:The elastic strain values of longus colli, splenius capitis and levator scapula were significantly increased by neck muscle training ( t=4.154, 2.348, 2.745, P<0.001, P=0.040, 0.006). The relative growth rate of the average elastic strain values of longus colli, splenius capitis and levator scapula after training was 13.75%, 4.18% and 2.8%, respectively. After neck muscle training, the average maximum neck muscle strength and average 10 s maximum impulse in the directions of forward flexion, backward extension, left flexion and right flexion were higher than those before training, and the difference was statistically significant ( t=3.364-8.284, all P<0.01); The relative growth rate of the average maximum neck muscle strength in each direction was 39.3%, 34.6%, 35.2% and 28.4%, respectively, and the relative growth rate of the average 10 s maximum impulse was 51.4%, 33.6%, 42.7% and 34.5%, respectively. The elastic strain values of levator scapula and longus colli were negatively correlated with the average maximum muscle strength of anterior flexor ( r=-0.281, -0.387, P=0.036, 0.004). Conclusions:Neck muscle training can effectively improve the strength of neck muscle groups and the elastic strain of some muscle groups. The elastic strain values of levator scapula and longus colli are negatively correlated with the average maximum muscle strength of anterior flexor, those suggesting that neck muscle training has a certain effect on enhancing the activity of anterior flexor muscle groups and maintaining the physiological lordosis of cervical spine.

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.