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 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 improve the prognosis of children with autism spectrum disorder (ASD), a model of structure-based outpatient training course was conducted to explore the intervention effect for children with ASD. Methods 154 children with ASD were included in the present study (aged 1.6-5.5 years). All children were received the inpatient training course. The training course included individual coaching, game, motor, music courses etc. The training course lasted 1 month, 8 hours per day. All children were also received the Psycho-educational Profile-3rd Edition(PEP-3) assessment at the beginning and ending of training. Results Children with ASD scored significant raw scores in cognitive verbal/preverbal (29.08 ± 13.23 vs. 43.27 ± 11.62), expressive language (13.33 ± 10.55 vs. 25.38 ± 11.82), receptive language (15.77 ± 10.64 vs. 27.48 ± 8.42), fine motor (25.97 ± 6.10 vs. 32.64 ± 5.07), gross motor (23.03 ± 5.52 vs. 27.72 ± 2.95), visual-motor imitation (10.65 ± 5.31 vs. 15.44 ± 3.76), affective expression (14.34 ± 4.31 vs. 16.36 ± 3.85), social reciprocity (11.90 ± 4.01 vs. 16.08 ± 4.13), personal self-care (13.39 ± 4.70 vs. 16.98 ± 4.30) and adaptive behaviors (17.8 ± 4.95 vs. 20.33 ± 5.37) (t=5.43-20.70, all P<0.05). Conclusions The model of structure-based inpatient training course is effective program to improve the prognosis of children with ASD .

Objective To reduce the rate of unscheduled nasogastric extubation for the patients in neurology department.Methods A nursing care team was set up for a thematic activity to reduce the rate of nasogastric tube unscheduled extubation.The team analysed the situations of 164 patients with nasogastric intubation in the neurology department,specifying the problems,deciding their aims and working out the strategies.Result The rate of unscheduled nasogastric extubation decreased from 19.63％ to 2.12％ and the rate of nursing omission decreased from 9.93％ to 2.59％ (P＜0.05).Conclusion The improvement activity of nursing projects can effectively reduce the rate of unscheduled nasogastric extubation and improve the quality of nursing care.

Objective To explore the influence of different training mode on the parenting stress in mothers of children with autism. Methods According to the wishes of parents, 46 children with autism by first diagnosed and their mothers were divided into combination training group (23 cases) and control group (23 cases). The children in combination training group received a family rehabilitation training besides the structured institution-based teaching programme, and the children in control group only received the structured institution-based teaching programme. Comparisons were made between the two groups by the Parenting Stress Index-Short Form score after 1 year teaching. Results Before teaching, the domain score of parental distress, parent-child dysfunctional interaction, difficult child and total score of parenting stress were (37.7 ± 5.6), (35.4 ± 4.1), (38.3 ± 5.4), (111.3 ± 10.5) points in control group, while those were (37.9 ± 5.8), (34.7 ± 4.3), (38.8 ± 4.9), (112.1 ± 9.3) points in combination training group. There was no significant difference between two groups(t=0.155-0.531, all P>0.05). After 1 year teaching, the domain score of parental distress, parent-child dysfunctional interaction, difficult child and total score of parenting stress were (34.0±3.4), (30.7±2.8), (34.3±2.2), (99.0±4.7) points in control group, while those were (34.3±3.7), (28.7±3.1), (31.1±2.4), (94.1±6.8) points in combination training group. The combination training group reported a lower level than control group in the domains score of parent-child dysfunctional interaction, difficult child and total score of parenting stress (t=-2.340,-4.595,-2.890, all P<0.05), while the domain score of parental distress had no significant difference (t= 0.236, P>0.05). Both two groups after 1 year teaching, mothers of children with autism experienced a lower level in all the domains and the total score of parenting stress than before teaching(combination training group: t=3.562-7.925, control group:t=2.534-4.768, all P<0.05). Conclusions Family rehabilitation training combined with institutions could reduce the parenting stress of mothers with autistic children and be worthy of clinical promotion and application.

Objective To conduct a empirical research on work skill and work style that head nurses need by O?NET working analysis system, and provide reference and basis for the selection, training, assessment of head nurses. Methods Two dimensions of O?NET working analysis system were applicated in this research, and totally 207 nurses in three hospitals of Guangdong province were investigated with O?NET working analysis questionnaire by stratified random sampling method. Descriptive statistical analysis was used to analyze each item in the questionnaire, and the order was determined. Results The important work styles of head nurses were team-work spirit ( 83. 86%) , integrity ( 83. 74%) , self-control ( 81. 07%) , stress tolerance ( 80. 83%) , cooperation ( 79. 49%) , etc. The important work skills of head nurses were communication (86. 41%), service orientation (79.85%), management ability of personnel resources (78.16%), coordination (77.06%), active learning (76.46%), etc.Conclusions The important competences of work style and work skills of head nurses are identified and sorted by O?NET working analysis system, which would provide reference and basis for the selection, training, assessment of head nurses.

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.

ObjectiveTo study the effect of three-level monitoring mode in reducing complications of pediatric PICC catheter tube and improving the quality of care for children. Methods64 cases of children with PICC catheter in our hospital from September 2009 to August 2011 receiving three-level monitoring modes were set as the experimental group.67 patients with conventional care from September 2007 to August 2009 were set as the control group.The incidence of catheter complications in children,success rate of catheter puncture and tube indwelling time for the two groups were observed. Results The complications occurred in 9 cases,accounting for 14.06％ in the experimental group.The complications occurred in 25 cases in the control group,accounting for 37.31％.The puncture success rate was 89.06％ in the experimental group,and the control group was 79.10％.The average time of tube indwelling in the experimental group was higher than the control group.The difference was significant. ConclusionsThe effect of three-level monitoring modes to reduce pediatric PICC catheter complications and improve quality of care in children with catheter is significant,it can increase the success rate of puncture and prolong tube in-dwelling time.