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 explore the value of thrombelastogram(TEG) on monitoring the coagulation function and guiding blood transfusion in admitted patients in early stage of severe trauma. 【Methods】 A total of 96 patients in early stage of severe trauma were selected from Ezhou Central Hospital, and were divided into two groups using a random number table method, with 48 patients in each group. The control group was guided by four routine coagulation tests for blood transfusion, while the observation group was guided by TEG.The detection rate of trauma-induced coagulopathy, detection duration, blood infusion volume within 24 hours of admission, coagulation index levels at different time points after blood transfusion, length of hospital stay, ICU stay, and mortality rate between the two groups were compared. 【Results】 The detection rate of trauma-induced coagulopathy was 72.9% in the control group and 93.8% in the observation group(P<0.05). The transfusion volume of fresh frozen plasma (U) and red blood cell (U) in the observation group within 24 hours of admission were significantly lower than those in the control group, which were (35.13±4.75) vs (45.17±6.54), (5.19±1.41) vs (7.08±1.32) (P<0.05); the tranfusion volume of cryoprecipitate (U) and the rate of platelet transfusion in the observation group were significantly higher than those in the control group, which were (36.78±2.49) vs (24.84±3.92), 79.2% vs 22.9%(P<0.05). The APTT(s), PT(s), TT(s), R(min), and K(min) in the observation group 8 hours after blood transfusion were significantly lower than those in the control group, which were (58.16±10.39) vs (70.83±14.99), (15.44±3.22) vs (17.32±2.89), (21.39±4.51) vs (25.18±4.73), (13.03±3.29) vs (14.95±4.57), and (8.07±3.65) vs (10.54±5.14) (P<0.05), while FIB(g/L), MA(mm), α(°), and Plt (×10⁹/L) were higher than those in the control group, which were (2.02±0.46) vs (1.09±0.27), (35.56±11.88) vs (29.57±9.25), (40.07±13.34) vs (27.23±10.87), and (135.87±59.13) vs (108.17±52.08) (P<0.05). 【Conclusion】 TEG can help monitoring the coagulation function in patients in early stage of severe trauma and guide the blood transfusion.

Objective:To investigate the status of family function of patients after hysterectomy, explore the effect of self-concealment on family function.Methods:From January to November 2021,the 177 patients after hysterectomy in Guangdong Provincial People ′s Hospital were investigated by General Data Questionnaire, Family APGAR Indexand Self-Concealment Scale (SCS), and the influencing factors of family function were analyzed by univariate analysis and binary logistic regression. Results:The total score of APGAR and SCS was 9.00 (6.50, 10.00) and 24.00 (17.00, 33.00) after hysterectomy. Univariate analysis showed that marital status, working conditions and tendency of self-concealment were the influencing factors of family function. In the regression analysis of binary Logistic, tendency of self-concealment( P<0.01) and marital status ( P<0.01) entered the regression equation. Conclusions:The family function of patients after hysterectomy is generally good, and self-concealment is a risk factor. It is suggested that in clinical work, attention should be paid to the tendency of self-concealment in patients after hysterectomy, and targeted intervention measures should be taken to improve their family function.

Stigma is more common in patients with anxiety disorders, which is a barrier factor for patients' treatment and greatly affects patients' physical and mental health. This paper mainly reviews the related concepts, research progress, measurement tools, influencing factors and strategies of stigma in anxiety patients, in order to provide reference for the research of stigma in anxiety patients in China.

Benign childhood epilepsy with centrotemporal spikes (BECT) is the most common childhood idiopathic focal epilepsy and used to be considered as one of the childhood epilepsy syndromes with the best prognosis. In recent years, more and more studies have found that patients with BECT have varying degrees of cognitive dysfunction. This article reviews some of research progresses in the clinical features, neuropsychology and neuroimaging of patients with BECT, in order to explore the effects of seizures, age of onset, interictal discharges, changes of brain structure and functional network, as well as antiepileptic drugs on cognitive function in patients with BECT.

Objective:To investigate the relationship between hypertension with hyperhomocysteinemia (HHcy) and early neurological deterioration (END) in patients with intracerebral hemorrhage.Methods:Patients with acute intracerebral hemorrhage admitted to the Department of Neurology, the First People's Hospital of Huainan from January 2017 to December 2018 were enrolled prospectively. END was defined as the National Institutes of Health Stroke Scale (NIHSS) score increased by ≥4 or Glasgow Coma Scale (GCS) score decreased by ≥2 at any time within 72 h after onset from baseline. The baseline data of the END and non-END groups were compared, and multivariate logistic regression analysis was use to evaluate the independent risk factors for END. Results:A total of 238 patients with acute intracerebral hemorrhage were enrolled, and 64 of them (26.9%) developed END. The baseline hematoma volume, NIHSS score, blood glucose, homocysteine level, neutrophil count, and the proportion of hypertension, hemorrhage into ventricle and hematoma enlargement in the END group were significantly higher than those in the non-END group, while the baseline GCS score was significantly lower than that in the non-END group (all P<0.05). Multivariate logistic regression analysis showed that after adjusting for the confounding factors, the baseline hematoma volume (odds ratio [ OR] 1.086, 95% confidence interval [ CI] 1.029-1.146; P=0.003), baseline GCS score ( OR 0.420, 95% CI 0.245-0.719; P=0.002) and hypertension with HHcy ( OR 2.441, 95% CI 1.185-5.029; P=0.016) had significant independent correlation with END. Conclusion:Hypertension with HHcy is an independent predictor of END in patients with intracerebral hemorrhage.

Objective:To explore the correlation between parents′ posttraumatic growth, mental resilience and family functioning in children with autism spectrum disorder.Methods:Using the convenience sampling method, 169 parents of children with autism spectrum disorders were selected. General data questionnaire, Posttraumatic Growth Inventory (PTGI), Conner-Davidson Resilience Scale (CD - RISC) and Family Assessment Device (FAD) were investigated.Results:The total PTGI score of parents of children with autism spectrum disorder was 58.79±18.92. The scores of appreciation of life, new possibilities, personal strength, relating to others and spiritual change were 19.49±6.15, 10.46±4.59, 9.05±3.32, 7.79±3.65, 12.01±3.83. The PTGI score of 37.3% parents was lower than 52, which was at a low level. Parents in the high score (> 74) group and the low score (< 52) group had statistically significant differences ( P<0.05) in the total score of CD - RISC and scores in all dimensions, as well as the differences in the scores of the four dimensions of FAD, namely problem solving, communication, role and behavior control. The total score of PTGI of parents was positively correlated with the total score of CD - RISC and the scores of its all dimensions ( r values were 0.201-0.317, P<0.05), and negatively correlated with the scores of Problem Solving, Communication and Behavioral Control of FAD ( r values were -0.233 - -0.196, P<0.05). Conclusions:The parents of children with autism spectrum disorder have an average level of posttraumatic growth. People with better mental resilience and healthier family functions have higher post-traumatic growth level.

Objective To explore the occupational stressors and the coping strategies in the newly-employed nurses and to explore their relationships. Method The survey was done among 193 registered nurses with less than 3 years working experience using the occupational stressor scale for Chinese nurses, the simplified coping strategies questionnaire and a self-designed general demography form. Results The total score on occupational stressors was 2.27 ± 0.56, which was at a common level. Postive and negative coping style were 1.88 ± 0.44 and 1.04 ± 0.51. The stressors together with the dimensions were positively correlated with negative coping strategies (P<0.05). Conclusion Nursing administration should improve work environment, provide enough manpower for patient care, carry out training system to focus on education for newly employed nurses, and provide advice and help for them when they need.

Objective To investigate the perceptions of medical staff about chemotherapeutic symptoms in children with leukemia.Method Sixty-one doctors and nurses were involved in the investigation using a self-designed questionnaire on uncomfortable symptom scale.Result The main symptoms of chemotherapy included hair loss,poor appetite,nausea,vomiting, oral mucositis and fatigue.Conclusion Chemotherapeutic symptoms are common in children with leukemia and need appropriate nursing management.