Objective: To explore associations between physical activity, screen time and anxiety, sleep quality among college students in Shanghai, and to provide a reference for relevant prevention and control. Methods: By using cluster random sampling method, a total of 4 964 students from grade 1 to grade 2 in 3 universities from 3 districts of Shanghai were enrolled. Self-Rating Anxiety Scale, Pittsburgh Sleep Quality Index and International Physical Activity Questionnaire were used to assess the level of anxiety, sleep quality and physical activity. Results: The reporting rate of anxiety symptoms among students was 9.7%(8.7% for males and 11.4% for females) and the prevalence of poor sleep quality was 55.0%(51.8% for males and 60.4% for females), there was significant gender differences in anxiety symptoms and poor sleep quality rate(χ2=9.92, 34.81, P<0.01). Among male students, with adjustment of age, BMI and lifestyle, those who met neither physical activity nor screen time recommendations had 2.23(95%CI=1.31-3.79) and 1.48(95%CI=1.13-1.94) times risks for anxiety and poor sleep quality than those meeting both recommendations. Among girls, there was a significant association between screen time and anxiety(aOR=1.61, 95%CI=1.18-2.21). However, physical activity was not associated with anxiety and sleep quality. Conclusion High screen time and physical inactivity may increase the risk of anxiety and poor sleep quality among male college students, and screen time may also increase the risk of anxiety among female college students.

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

Objective: To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia. Methods: Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing. Results: Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c. 221A>C (p.H74P). Conclusion The missense c. 221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Objective To observe the clinical effect of platelet-rich fibrin (PRF) on prevention of postoperative hemorrhage and facial traumatic swelling in patients with mandibular angle osteotomy.Methods Twenty-five patients with mandibular angle hypertrophy were included in this study from January 2014 to November 2015.Split face comparative study was carried out to use the left and right sides as the experimental side and the control side,respectively.The PRF in the experimental side was placed in the mandibular osteotomy,while the control side was placed in platelet-poor plasma (PPP).After operation,the drainage volume and facial swelling degree were measured.Results The drainage volume of the experimental group (PRF group) was (20.35 ±7.40) ml,the control group (PPP group) was (43.23±11.96) ml,and the difference was statistically significant (P＜0.05).There was no such case without swelling in postoperative third day.The facial swelling score on the experimental side was (1.19±0.40),the control side was (2.62±0.64),and two groups of postoperative facial swelling scores were significantly different (P＜0.05).Conclusions The PRF can reduce postoperative bleeding and facial swelling after mandibular angle osteotomy.

Objective To screen and prepare a broad-spectrum monoclonal antibody against Strep-tococcus pneumoniae ( S. pneumoniae) surface protein A ( PspA) and to evaluate its potential in clinical prac-tice. Methods Hybridoma cells were screened and inoculated into the abdominal cavities of BALB/c mice to prepare antibodies in ascites. Monoclonal antibodies were obtained by ammonium sulfate precipitation and protein A affinity chromatography and then identified by SDS-PAGE and Western blot. Their specificity, iso-forms and killing activities in vitro were analyzed. Results A broad-spectrum monoclonal antibody that rec-ognized PspA subclasses 2, 3 and 4 was obtained. Its in vitro killing rate against S. pneumoniae reached 40. 3％. Conclusions A broad-spectrum monoclonal antibody that could specifically bind to PspA was suc-cessfully prepared with a strong in vitro killing activity. This study provided reference for clinical diagnosis of S. pneumoniae-related diseases, quality assessment of S. pneumoniae vaccines and further research on mono-clonal antibody therapeutics.

OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and the fetus. RESULTS Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient's phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. CONCLUSION The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.
Blepharophimosis ; genetics ; Child, Preschool ; Chromosomes, Human, Pair 3 ; Female ; Humans ; Mitochondrial Proteins ; genetics ; Phenotype ; Ribosomal Proteins ; genetics ; Skin Abnormalities ; genetics ; Tetralogy of Fallot ; genetics ; Urogenital Abnormalities ; genetics

Objective To investigate the clinical value of chromosomal microarray analysis (CMA) in identifying the genetic etiology of fetal growth restriction (FGR).Methods Eighty-five FGR cases were recruited from Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School from January 2014 to October 2016.Samples ofamniotic fluid (n=74),skin tissues from aborted fetuses (n=9),umbilical cord blood (n=1) and peripheral blood from a premature infant (n=1) were collected.Affymetrix CytoScan 750K Array was used to detect copy number variation (CNV) in fetal samples.Microarray analysis.or fluorescence quantitative polymerase chain reaction was further recommended for the parents if fetal CMA result was variants of unknown significance (VOUS).Karyotype analysis of umbilical cord blood was further recommended if fetal CMA result was chromosome mosaicism.Chromosome analysis of peripheral blood was further recommended for the parents if fetal CMA result of a fetus was submicroscopic CNVs.Adjusted Chi-square test was used as the statistical method.Results CMA was successful in all samples in identifying chromosomal abnormalities.Among the 36 isolated FGR cases (42.4％,36/85),CMA identified in four cases of chromosome imbalance recombination and four cases of VOUS,and the rest 28 cases were normal.Besides,no CNV was detected.Among the other 49 FGR cases (57.6％,49/85) with ultrasound abnormalities,there were five cases of VOUS,and five cases of chromosome imbalance recombination and nine cases of CNVs.No significance difference in the detection rate of chromosome imbalance recombination was observed between the isolated and non-isolated FGR groups [11％ (4/36) vs 10％ (5/49),adjusted x2=0.000,P＞0.999].Parents of six cases of VOUS were further examined and the same variants was found in either one.One case of sex chromosome mosaicism was validated by cord blood karyotyping.One case of chromosome imbalance recombination was due to the paternal balanced translocation.Conclusions CMA is helpful in detecting the chromosome imbalance recombination in FGR cases.

OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
Aneuploidy ; Chromosome Aberrations ; Chromosomes ; DNA Copy Number Variations ; Edema ; Female ; Fetus ; Humans ; Lymphangioma, Cystic ; Microarray Analysis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome. METHODS: Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe amplification(MLPA) was carried out to determine their parental origin. All cases were followed up for their pregnancy outcome and postnatal growth. RESULTS: Among the 25 cases, the ultrasound phenotypes of those involving the TBX1 gene were mostly cardiovascular system abnormalities, the ultrasound phenotypes of cases involving CRKL gene are mostly polycystic renal dysplasia. The ultrasound phenotypes of CNVs in the distal region (involving the SMARCB1 gene) are nervous system abnormalities. 12 cases (48%) of CNVs were de novo in origin. Five cases were lost during follow-up,12 had opted to terminate the pregnancy, 8 fetuses were born,7 with normal growth and development, 1 case with CNV in A-D region was abnormal.Prenatal ultrasound showed abnormalities in the cardiovascular system consistent with postnatal ultrasound, in addition with dysphagia and growth retardation. CONCLUSION Prenatal phenotypes of the 22q11.2 region CNVs are diverse, which may be related to gene function. NT thickening may be used as an early ultrasound finding of proximal 22q11.2 CNV. More research is still required to delineate the nature of CNVs and gene function, so as to facilitate genetic counseling.
DNA Copy Number Variations ; Female ; Fetus ; Genetic Counseling ; Humans ; Microarray Analysis ; Phenotype ; Pregnancy ; Prenatal Diagnosis