OBJECTIVE: Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed. METHODS: The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation. RESULTS: Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal. CONCLUSION The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.
Female ; Fetus ; Genetic Counseling ; Humans ; Infant, Newborn ; Karyotyping ; Phenotype ; Pregnancy ; Prenatal Diagnosis

Objective:To study the effect of video teaching combined with offline training in cardiopulmonary resuscitation training for new nurses outside hospital.Methods:From August 2017 to August 2018, 125 new nurses from Shanghai Changzheng Hospital were selected. New nurses in August 2017 were set as control group ( n=65). In August 2018, the new nurses were set as the observation group ( n=60). The control group used the traditional offline training mode to train cardiopulmonary resuscitation outside the hospital. The observation group used information platform video teaching combined with offline theoretical training to carry out cardiopulmonary resuscitation training. After systematic training, the results of cardiopulmonary resuscitation after training and the satisfaction of teaching were compared between the two groups. Results:Before training, there was no significant difference in the assessment results of cardiopulmonary resuscitation theory and operation between the two groups ( t values were 0.12, 1.23, P>0.05). After training the scores of cardiopulmonary resuscitation theory and operation examination in the observation group were 85.41±3.20, 92.40±2.50, and 82.52±4.50, 85.0±3.60 in the control group ( t value was 1.04,4.24, all P<0.05). Encouraging and enhancing the learning interest of new nurses, cultivating mutual supervision and mutual guidance, integrating theoretical knowledge with practical operation, improving and adjusting self-motivation, overall evaluation of teaching methods and total score in the observation group were 3.61±0.34, 3.54±0.20, 3.61±0.28, 3.87±0.20, 3.32±0.21, 17.95±0.26, and 2.60±0.41, 2.41±0.16, 2.55±0.35, 2.41±0.46, 2.58±0.20,12.55±0.32 in the control group ( t value was 2.187-2.452, P<0.05). Conclusion:Video teaching combined with offline training can improve the performance of new nurses in the training of high-quality cardiopulmonary resuscitation, stimulate the learning interest of nurses, and enhance the effect of high-quality cardiopulmonary resuscitation training.

Objective:To establish a quality control system of enteral nutrition nursing for critically ill patients, and to apply this system in clinical practice and evaluate its effect.Methods:Delphi method was used to construct the quality control system. By training nurses in this system, through the training of the system for nurses and clinical quality control, enteral nutrition complications of patients before and after the training and nurses' knowledge of enteral nutrition were compared.Results:after the system applied in the nursing clinic, the incidence of enteral nutrition gastrointestinal complications, infectious complications, metabolic complications and mechanical complications in patients with critical illness decreased from 11.3% (18/160), 1.9% (3/160), 5.6% (9/160), 6.9% (11/160) to 3.9% (6/152), 0.7% (1/152), 1.3% (2/152), 1.9% (3/152) respectively, with statistically significant differences ( χ 2 values were 6.35-91.33, P <0.01). ICU nurses' awareness of enteral nutrition theory was significantly improved, and the questionnaire score increased from (70.22±8.78) points to (95.25±4.18) points, with statistically significant difference ( t value was 18.792, P<0.01). Conclusion:The enteral nutrition nursing quality control system developed in this study can effectively guide nursing staff to implement enteral nutrition during nursing behavior, reduce the occurrence of enteral nutrition complications in patients with critical illness, to ensure the safety of patients, and is worthy of clinical promotion and application.

Objective:To analyze and evaluate the application effect of magnetic navigation-guided nasojejunal tube placement in critically ill patients by literature retrieval.Methods:The Chinese databases of CNKI,Wanfang,VIP and Chinese Biomedical Literature Service System were searched,as well as the literature on randomized controlled trials of magneto-guided nasojejunal tube placement in critically ill patients in foreign language databases of PubMed,CINAHL,Cochrane Library,Web of Science,and Embase,the search period was from January 2000 to September 2023.The literature were screened according to the inclusion and exclusion criteria,and the quality of the literature was evaluated.RevMan 5.4.1 software was used to conduct a meta-analysis of the four outcomes in the literature:success rate of placement,time required for successful placement,time to recovery of vital signs,and patient satisfaction.Results:A total of 7 randomized controlled trials of 7 studies were included,including 4 Chinese studies and 3 English studies,involving 682 patients.The success rate of magnetic navigation-guided nasojejunal tube placement was higher than that of bedside blind nasojejunal tube placement,the difference was statistically significant[OR=4.78,95%CI(2.16～10.58),P<0.0001].The time required for magnetic navigation guided nasojejunal tube placement was less than that of the bedside blind nasojejunal tube placemen,the difference was statistically significant[MD=-12.91,95%CI(-22.93～-2.90,P<0.00001].The time required for recovery of vital signs in patients with magnetic navigation guided nasojejunal tube placement was less than that of the bedside blind nasojejunal tube placemen,the difference was statistically significant[MD=-9.11,95%CI(-12.09～-6.13,P<0.00001].The satisfaction of patients with the magnetic navigation-guided nasojejunal tube placement was higher than that of patients with the bedside blind nasojejunal tube placement,the difference was statistically significant[OR=11.61,95%CI(3.96～34.01),P<0.00001].Conclusion:Compared with bedside blind nasojejunal tube placement,magnetic navigation-guided nasojejunal tube placement can significantly improve the success rate of nasojejunal tube placement in critically ill patients,reduce the time required for successful nasojejunal tube placement,reduce the recovery time of patients'vital signs,and improve patient satisfaction.

Objective:To explore the clinical phenotypes, pregnancy outcomes, and follow-up of fetuses with 1q21.1 distal microdeletion/microduplication, and to provide a basis for prenatal and genetic counseling.Methods:This was a retrospective study involving 14 singleton fetuses with 1q21.1 distal microdeletion/microduplication that were prenatally diagnosed by karyotype analysis and chromosomal microarray analysis (CMA) at Wuxi Maternity and Child Health Care Hospital from January 2017 to June 2022. The results of ultrasound and genetic analysis, pregnancy outcome after genetic counseling, and postnatal follow-up were summarized using descriptive statistical methods.Results:All 14 fetuses had normal karyotypes. Out of the 14 cases, CMA indicated 1q21.1 distal microdeletion in eight cases and 1q21.1 distal microduplication in six cases. The fragments ranged from 813 kb to 4.48 Mb, all of which contained the key region of 1q21.1 microdeletion/microduplication syndrome and were pathogenic copy number variations (CNV). Among eight fetuses with distal 1q21.1 microdeletion, four cases had abnormal prenatal ultrasound findings, including one case with overlapping fingers of left hand and polyhydramnios, two were small for gestational age, and one with small head circumference. Among the six cases who underwent parental origin detection, the microdeletions were de novo in four fetuses and two fetuses were inherited from the parent with normal phenotype. As for six fetuses with distal 1q21.1 microduplication, nasal bone absence or hypoplasia was shown by ultrasound in four cases and no obvious abnormality was found in the other two cases. Parental origin detection was performed in four cases, which found that one case was de novo and the other three cases were inherited from their phenotypically normal parents. After genetic counseling, five families chose to terminate the pregnancies and the remaining nine cases continued the pregnancies to delivery. The last follow-up showed that all of the nine live births grew well, whose ages ranged from seven months to half past five years old. Conclusions:CMA is of great value in prenatal diagnosis of 1q21.1 distal microdeletion/ microduplication. Ones carrying pathogenic CNV may not develop the disease. Combined with ultrasound findings and parental genetic tracing results, individualized genetic counseling and long-term follow-up are of great importance for reasonable guidance in pregnancy outcome and reproduction.

Objective:To explore the genetic causes of cerebellar hypoplasia (CH) diagnosed by prenatal ultrasound.Methods:This retrospective study involved 32 fetuses with CH diagnosed by prenatal ultrasound in Wuxi Maternal and Child Health Hospital from January 2014 to December 2022. Prenatal ultrasound findings and genetic testing results for amniotic fluid were collected and analyzed. The correlation between fetal CH and genetic abnormality was analyzed. A descriptive statistical method was used for data analysis.Results:(1) General data: The 32 mothers were (28.0±4.9) years old, ranging from 18 to 37 years old; the gestational age at amniocentesis was (24.2±4.0) weeks, ranging from 18 +3 weeks to 37 +2 weeks. Apart from one case lost to follow-up, the other 31 cases terminated the pregnancies, including 30 terminated before 28 weeks of gestation and one at 33 weeks of gestation due to unmarried status. (2) Ultrasonic features: Among the 32 cases, 30(93.8%) were complicated by intracranial or extracranial abnormalities including cardiac abnormalities (15 cases), dilated lateral ventricles (ten cases), and abnormalities in limbs (eight cases) and face (nine cases). Two CH cases (6.2%) were isolated. (3) Genetic testing: Among the 32 cases, 13 cases (40.6%) had normal results of amniotic fluid karyotype analysis and single nucleotide polymorphism (SNP) array. Among the 19 cases with abnormal amniotic fluid test results (59.4%), 16 cases have abnormal results in amniotic fluid karyotype analysis and SNP array detection [nine cases were numerical abnormalities, including five cases of trisomy-18, three of trisomy-21, and one of trisomy-13; seven cases were chromosomal structural abnormalities, including four cases of terminal deletion of chromosome 5 (Cri-du-Chat syndrome) and three cases of reciprocal translocation of chromosomes]. There was no abnormality in karyotype analysis of amniotic fluid in three cases. Still, their SNP array test results showed copy number variations (CNV) [one of 6q terminal deletion, one of 6q terminal deletion with 5p15.33 duplication, and one of 6q terminal deletion with 15q26.3 duplication; all variations were of unknown significance]. (4) Of the 19 cases with abnormal SNP array results, 17 were accompanied by abnormal intracranial/extracranial ultrasound findings. Among them, ten cases showed cardiac malformation, seven showed lateral ventricular widening, and seven showed limb abnormality. Conclusions:Numerical abnormalities, CDCS, and 6q terminal deletion are the most common genetic causes of CH diagnosed by prenatal ultrasound. Chromosome microarray analysis should be recommended for fetuses with ultrasound-diagnosed CH to evaluate fetal prognosis accurately.

In 2016, a national one million general population cohort project was set up in China for the first time in "Precision Medicine Research" Key Project, National Key Research and Development Program of China, which consists of general population cohorts in seven areas in China. As one of the seven major areas in China, northeastern China has unique climate and specific dietary patterns, and population aging is serious in this area. And the burden of chronic and non-communicable diseases ranks tops in China. Therefore, it is of great significance to establish a large general population cohort in northeastern China to explore the area specific exposure factors related to pathogenesis and prognosis of chronic and non-communicable diseases, develop new prevention strategies to reduce the burden of the diseases and improve the population health in northeastern China. In July 2018, the general population cohort study in northeastern China was launched, the study includes questionnaire survey, health examination and blood, urine and stool sample collection and detection in recruited participants. By now, the cohort has covered all age groups, and the baseline data of 115 414 persons have been collected. This paper summarizes the design and practice of the general population cohort study in northeastern China to provide reference for related research in China.