Objective To analyze the distribution characteristics of abnormal karyotypes of fetal sex chromosome aneuploidy(SCA)and pregnancy outcomes in 101 fetal cases.Methods A retrospective study was conducted among 7 821 pregnant women who underwent successfully prenatal karyotyping diagnosis at Guangxi Zhuang Autonomous Region People's Hospital from January 2016 to December 2021.All women received amniotic fluid cell culture karyotype analysis and copy number variation sequencing(CNV-seq)detection and 101 cases of SCA detected were analyzed.Results A total of 101 cases were detected by SCA,with a detection rate of 1.29％.Among them,Klinefelter syndrome accounted for 33.66％,superestrogenism syndrome accounted for 17.82％,superandrogenic syndrome accounted for 12.87％,turner syndrome accounted for 10.89％,other aneuploidy abnormalities[including 48,XXXY:1 case;69,XXY(80％)/68,XXY,-22(20％):1 case]accounted for 1.98％,and chimerism accounted for 22.77％.The prenatal indications for 101 cases of SCA were as follows:age ≥ 35 years,high/critical risk of serum biochemical screening,fetal ultrasound abnormalities,abnormalities in non-invasive prenatal testing(NIPT),history of adverse pregnancy and childbirth and other reasons(1 case of cerebral palsy in pregnant women and 4 cases of bilateral thalassemia)accounted for 53.47％(54/101),4.95％(5/101),17.82％(18/101),51.49％(52/101),12.87％(13/101),4.95％(5/101),respectively.Partial cases had multiple prenatal diagnostic indications.Meanwhile,23 fetuses diagnosed with sex chromosome chimerism,of which 22 cases were validated by karyotype and CNV seq,11 pregnant women chose to terminate their pregnancy,with the rest chose to continue pregnancy.Conclusion The combination of prenatal karyotype diagnosis,serological testing,prenatal ultrasound and other prenatal screening methods can help improve the detection rate of SCA,while CNV-seq can provide more clinical evidence for genetic counseling of pregnant women with sex chromosome chimerism.

This paper reported a woman with polycystic kidney disease who had increased fetal nuchal translucency (NT) in her two sequential pregnancies. The fetal NT thickness in the first pregnancy was 5.1 mm at 12 +5 weeks of gestation, and the infant was born prematurely at 32 gestational weeks. However, the baby girl died due to respiratory insufficiency and severe asphyxia. The NT thickness in the present pregnancy was 5.7 mm at 12 weeks of gestation. Whole-exome sequencing (WES) and Sanger sequencing confirmed that the dead infant and the current fetus carried compound heterozygous variants of maternal c.4255_4256del and paternal c.18366+2T>C in NEB gene, both were pathogenic variants. The current fetus was diagnosed with arthrogryposis multiplex congenita 6 (AMC6). After genetic counseling, the pregnant woman chose to terminate the pregnancy. The pregnant woman was diagnosed as having polycystic kidney disease type 1 caused by large deletions in exons 25-43 of PKD1 gene by WES combined with multiplex ligation-dependent probe amplification technology.

Objective To provide the reference basis for reducing the occurrence of nutritional risk by analyzing possible risk factors for nutritional risk status and investigating the relationship between preoperative nutritional risk status and prognosis.Methods We retrospectively analyzed the clinical data of 894 patients(nutritional risk group of 491 cases,non-nutritional risk group of 403 cases) with esophageal cancer resection.The univariate analysis was used to analyze the relationships between nutritional risk status with postoperative complications and length of hospitalization.And the multiple Logistic regression model analysis was applied to analyze the risk factors of nutritional risk status.Results The nutritional risk group had a higher rate of postoperative complications (33.60 ％ vs.19.60 ％,U =-3.429,P =0.001),higher incidence of serious complications (23.01％ vs.8.68％,U =-3.611,P =0.000) and longer hospital stays [(37.20 ± 13.89) days vs.(31.69 ± 13.49) days,t =4.124,P =0.000] than that of non-nutritional risk group.The results of the multiple logistic regression analysis showed that the preoperative nutritional risk factors were associated with the patients' age (OR =1.58,95％ CI:1.101-2.268),number of symptoms entries(OR =7.97,95 ％ CI:6.071-10.463),symptom severity (OR =0.26,95％ CI:0.186 -0.385),and dietary intake (OR =0.62,95 ％ CI:0.482-0.813),P ＜ 0.05 for all.Conclusion The older patients with more severe symptoms and poor diet are more likely to suffer from nutritional risk.Prolonged hospital stay and postoperative complications easily happen in patients with nutritional risk.So patients with preoperative nutritional risk should be given timely and effective nutrition intervention measures,in order to reduce postoperative complications and length of hospitalization.

By genetic recombinant technique, the rat GDNF cDNA was recombinated to the retroviral vector pLXSN. The recombinant plasmid pLXSN-GDNF was verified by digestion with restriction endonucleases and PCR. Then neural stem cells (NSCs) were infected with pLXSN-GDNF. Immunocytochemistry, RT-PCR and western-blot were used to detect the transfection effect. Results showed that GDNF cDNA was cloned into retroviral vector pLXSN correctly, and the pLXSN-GDNF can infect NSCs efficiently. These results provide the possibility for transplantation and gene therapy with GDNF of nervous system diseases and injury.
Adenoviridae ; genetics ; Animals ; Cloning, Molecular ; DNA, Complementary ; genetics ; Gene Transfer Techniques ; Genetic Therapy ; Genetic Vectors ; genetics ; Glial Cell Line-Derived Neurotrophic Factor ; genetics ; Neurons ; cytology ; Rats ; Recombinant Proteins ; genetics ; Stem Cells ; cytology

Objective To assess the effect of smoking and body mass index(BMI) on lung cancer incidence density in male workers.Methods Risk factors of cardiovascular diseases in baseline were surveyed in 1974,1979 and 1980 for 5 137 men aged more than 18 years old from Beijing Capital Steel and Iron Company.Follow-up was carried out to 2001;all diseases were identified by uniform standard.Cox proportional hazards model was used to analyze the relationship between smoking,BMI and lung cancer.Results During mean follow-ups of 20.8 years,106 cases of lung cancer occurred.The crude incident rates of lung cancer were 102.2 cases per 100 000 person-years.After adjustment for age,BMI and other established risk factors,cigarettes consumption of greater than 20 cigarettes/day versus no smoking was associated with a relative risk of lung cancer of 3.45(95% confidence interval(CI): 1.58～7.53).In categories of BMI of less than 18.5(underweight),18.5～24.9(normal weight) and more than 25 kg/m2(overweight and obesity),adjusting for age and other covariables,all workers and smoking workers both showed decreasing tendencies in relative risks of lung cancer in higher BMI groups.The pattern was similar after excluding the early 5-year lung cancer patients.Grouping in smoking and BMI levels,compared with underweight smokers,the relative risks for lung cancer of normal-weight nonsmokers and nonsmokers with overweight and obesity,as well as smokers with overweight and obesity were 0.25(95% CI: 0.08～0.84),0.16(95% CI: 0.04～0.74) and 0.23(95% CI: 0.07～0.77),respectively.Smokers with underweight had higher risk for lung cancer.Conclusion Smoking and underweight increased the risk of lung cancer.Keeping normal weight and giving up tobacco were important for the prevention of lung cancer.

Neurobiology is to study the structure,function,development and regeneration of the nervous system at molecular,cellular and whole level.The objective of neurobiological teaching is to explore the importont and difficult points in teaching' the present article attempts to design a project pattern in practical course of neurobiology,which is suited to learning mode of medical college students.

Objective To observe the expression and phosphorylation of N-methyl-D-aspartate (NMDA) receptor NR1 subunit in rat cortex and hippocampus under high altitude hypoxia. Methods The adult SD rats were exposed to hypobaric hypoxia imitating 5 500-meter high altitude for 8 h daily for 3, 7, 14, 21 d. Immunohistochemical staining, Western blotting and co-immunoprecipitation were used to detect the expression and phosphorylation of NR1 in rat cortex and hippocampus. Results Both immunohistochemistry and Western blotting showed NR1 expression in rat cortex and hippocampus was increased under hypoxia in a time-dependent manner. The tyrosine phosphorylation of hypoxia groups was increased, and reached the peak on day 14 after hypoxia, then decreased, still higher than that of control groups till day 21 (P

Objective To measure the estrogen concentration of estrogen (E 2) in the culture medium of rat astrocytes (ASTs). Methods Astrocytes in brain cortex of the 2-day-old neonatal rats were collected and cultured. The number of astrocytes was counted and the concentration of estrogen was measured by ELISA method at 0, 7, 14, and 21 d after culture. Results The cell counts were 1?10 4/ml, 1.1?10 6/ml, 1.4?10 6/ ml, and 1.5?10 6/ml, respectively. The concentrations of E 2 were: 0 pg/ml, (117.03?21.32) pg/ml, (266.91?22.03) pg/ml, and (252.62?27.99) pg/ml, respectively. No estrogen was detected in the primary culture medium. The concentration of estrogen increased in a time-dependent manner and reached the peak at 14 d, and then decreased gradually but remained at a certain level. Conclusion E 2 is secreted by astrocytes in the brain cortex of the 2-day-old neonatal rats.

Objective To investigate the effects of chitin on the functional recovery after sciatic nerve axotomy. Methods Upon silicone-tubulization of the transected sciatic nerve in the adult rats, either 0.9% saline or 1% chitin solution was injected into the silicone chamber. The status of functional recovery of the injured sciatic nerve was observed by electrophysiological analysis, hydrogen-peroxide oxidoreductase (HRP) retrograde trace method, and axon morphometric analysis at 30 and 90 d respectively after sciatic nerve transection. Results ① Chitin shortened the latent period of CMAP by 1.79 ms and 1.29 ms, promoted the nerve conduction velocity by 16.00 m/s and 22.00 m/s, enhanced the amplitude by 8.17 mv and 12.42 mv, respectively, at 30 and 90 d after sciatic nerve transection (P

Objective To explore the function and mechanism of Dihuang Yinzi (DHYZ) in promoting learning and memory and delaying brain aging. Methods The Wistar rats aged 20 months were randomly assigned to receive oral administration of 6, 12, 18 g?kg~ -1 ?d~ -1 DHYZ, or 2 ml/d normal saline (control) for 30 d (n=12 in each group), then space memory was detected with Morris Water Maze, and expression of synaptophysin (SYP) and extracellular regulated protein (ERK) were measured by immunohistochemistry and Western blotting. Results Rats administrated with DHYZ showed shorter mean escape latency (P