Objective To evaluate the efficiency of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex.MethodsPregnant women of south Zhejiang were screened for Down syndrome fetuses by maternal alpha-fetoprotein and β-human chorionic gonadotropin duplex during second trimester.The high-risk women underwent prenatal diagnosis by amniocentesis,cell culture and chromosome analysis.The newborns followed up by the maternal and child tertiary health care network and suspected to have Down syndrome were diagnosed by peripheral blood chromosome analysis.Statistical analysis was performed using two-sample t test and x2 test.Risk probability of Down Syndrome was calculated by random screening software. Results From Oct.2007 to May 2009,1130 of 32 188 singleton pregnant women in second trimester received prenatal screening were discovered with high risk(≥1 ∶ 270).Prenatal diagnosis was performed in 90.79％ cases (1026/1130) of high risk women and seven fetuses were diagnosed as Down syndrome by amniotic fluid chromosome analysis,and the pregnancies were terminated.Among the other 104 cases without prenatal diagnosis one Down syndrome baby was delivered.Six of 31 058 pregnancy women with low risk delivered Down syndrome babies with the incidence of Down syndrome of 0.19‰ (6/31 058).Detection rate of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex was 57.14％(8/14).False positive rate was 3.48％ (1122/32 188).Positive predictive value was 7.08‰(8/1130).During the same period,there were 23 813 pregnant women who didn't receive screening and 15 fetuses with Down syndrome were diagnosed after birth.There was no statistical difference in the prevalence rate of Down syndrome between those pregnant women who received prenatal screening or not [0.43‰ (14/32 188) vs 0.63‰ (15/23 813),x2 =1.004,P＞0.05].The prevalence of Down syndrome was 0.52‰ (29/56 001) in this area. ConclusionsThe prenatal screening and diagnosis could reduce the birth rate of Down syndrome patients.However,detection rate,false positive rate and positive predictive value of which were lower than reports in other studies.It's possible that the reference data might be not suitable for Chinese.

Objective To investigate the clinical efficacy of levothyroxine replacement therapy in children with hypothyroidism.Methods 45 children with hypothyroidism admitted from Apr.2015 to Dec.2016 were selected as observation group,and 45 healthy children in the same period were selected as the control group.Children in the control group received regular diet and were paid attention to nutritional balance.Children in the observation group were given levothyroxine sodium on the basis of dietary guidance.The two groups were treated continuously for 6 months.The levels of thyroid function,insulin-like growth factor,indicators for growth and development and inflammatory factors were measured before and after treatment in both groups.Results After treatment for 3 months and 6 months,the levels of FT3,FT4,IGF-1,IGFBP-3 and IGF-1/IGFBP-3 in the observation group increased significantly compared with those before treatment,and the levels of TSH in the observation group decreased significantly(P＜0.05).The levels of FT3,lFT4,TSH,IGF-1,IGFBP-3 and IGF-1/IGFBP-3 in the observation group after treatment for 6 months were (7.17±0.06)pmol/L,(2.74±0.07)mU/L,(207.67±9.06)μg/L,(0.46±0.02) mg/L and(34.59±1.97).The difference was not statistically significant (P＞0.05).After 3 months and 6 months of treatment,the height,body weight,osteocalcin and 25-(OH)2D3 levels in the observation group were significantly higher than those in the control group (P＜0.05),and there was no significant difference between the two groups after 6 months (P＞0.05).The difference was statistically significant (P＜0.05).Conclusion Left thyroid hormone replacement therapy can significantly improve the thyroid function of children with hypothyroidism,increase the level of thyroid-associated hormone and insulin-like growth factor,promote the growth and development of children,which is worthy of clinical application.

Objective To explore the successful breastfeeding experience of primiparous women with natural childbirth during the first 6 months postpartum. Methods A phenomenological methodology was used. Semi-structured in depth interviews were conducted among 11 primiparous women of natural childbirth. The data were transcribed, collated, summarized and analyzed using Colaizzi′s method. Results The primiparous women who sustained exclusive breastfeeding for six months after natural delivery experienced three stages which were:anxiety of breastfeeding,gradual adaption of breastfeeding, and coexistence of puzzles and insistence. The first stage was anxiety of breastfeeding including three themes: lack of experience in breastfeeding, conflict of breastfeeding, and noticeable fatigue during feeding.The second stage was gradual adaption of breastfeeding including four themes:family and social support, presenting regular feeding schedules, identification of mother role, and establishing a good mother-child relationship.The last stage was coexistence of puzzles and insistence which containing three themes: coexistence of confusion and perseverance, fear of returning back to work, suffering of maternal separation,and commitment of breastfeed. Conclusions In order to release the anxiety and improve the confidence of breastfeeding of primiparous women, it is vital to rely on the conjoint efforts of the family members,healthcare institutions,communities,enterprises,society and other aspects to improve the rate and duration of exclusive breastfeeding.

Objective To compare the diagnostic efficiency of the thyroid imaging reporting and data system (TIRADS), the Bethesda system for reporting thyroid cytopathology(BSRTC) and BRAFV600E detection, and their combined use in the differentiation between benign and malignant thyroid nodules. Methods One hundred and twenty eight patients with 128 thyroid nodules who were scheduled for ultrasound-guided fine-needle aspiration biopsy (FNAB) were recruited for the study. All of them underwent ultrasound, fine-needle aspiration cytology(FNAC) examination, and BRAFV600E detection. TIRADS and BSRTC systems were adopted to judge the ultrasound and FNAC results. The receiver operating characteristic curve was established to assess the diagnostic value of each method. Results The sensitivity, specificity, and AUC of TIRADS were 74. 3%, 84. 5%, and 0. 794, respectively. BSRTC had higher specificity(98. 3%) and equal sensitivity compared to TIRADS. The sensitivity, specificity, and AUC of BRAFV600E detection were the highest ones among the three methods. Combinations of different methods could increase the diagnostic sensitivity and accuracy. The combination of FNAC and BRAFV600E detection significantly increased the diagnostic efficiency(AUC=0. 984), with sensitivity 98. 6% and specificity 98. 3%. Conclusions The diagnostic value of BRAFV600E detection in the differentiation of benign and malignant thyroid nodules is better than both TIRADS and BSRTC, and the combination of FNAC and BRAFV600E detection reaches the best diagnostic efficiency.

Objective:To investigate the effects and significance of acute and chronic trauma on brain degree centrality (DC) in patients with post-traumatic stress disorder (PTSD) who lost their only child at resting state.Methods:Retrospectively, the study enrolled a total of 51 parents with PTSD, including 35 PTSD parents whose children was lost in emergencies (acute bereaved PTSD group) and 16 PTSD parents whose children was lost of chronic causes such as diseases (chronic bereaved PTSD group). Fifty local adults were also included as healthy controls (HC group). The clinical administered PTSD scale(CAPS) was used to evaluate the severity of the subjects' clinical symptoms.Resting-state functional magnetic resonance imaging(fMRI) data of all subjects were collected and DC values were calculated.SPSS 22.0 software was used for statistical analysis.Covariance analysis was performed among three groups, while post hoc was performed between any two groups.What's more, correlation analyses were utilized between abnormal brain regions and the scores of CAPS.Results:Significant group effects were found in multiple regions, including the right inferior temporal gyrus (MNI: x, y, z=66, -27, -21), right temporal pole (MNI: x, y, z=54, 15, -9), right orbital inferior frontal gyrus (MNI: x, y, z=42, 21, -15), bilateral medial superior frontal gyri (MNI: right x, y, z=6, 63, 12; left x, y, z=-3, 60, 18), left inferior parietal angular gyrus (MNI: x, y, z=-45, -36, 51) and left postcentral gyrus (MNI: x, y, z=-45, -33, 51). Compared with HC group, the DC of two patient groups increased in the right inferior temporal gyrus (MNI: acute x, y, z=63, -27, -21; chronic x, y, z=63, -21, -27); the DC of acute bereaved PTSD group decreased in the right temporal pole (MNI: x, y, z=45, 21, -15) and the right orbital inferior frontal gyrus (MNI: x, y, z=48, 24, -12), while the DC of chronic bereaved PTSD group decreased in the left inferior parietal angular gyrus (MNI: x, y, z=-45, -36, 51) and left postcentral gyrus (MNI: x, y, z=-45, -33, 51). Compared with chronic bereaved PTSD group, the DC of acute bereaved PTSD group increased in the left inferior parietal angular gyrus (MNI: x, y, z=-33, -39, 42) and left postcentral gyrus (MNI: x, y, z=-45, -33, 51), while decreased in the right temporal pole (MNI: x, y, z=51, 12, -9), right orbital inferior frontal gyrus (MNI: x, y, z=42, 21, -15) and bilateral medial superior frontal gyri (MNI: left x, y, z=0, 57, 15; right x, y, z=3, 57, 15). In chronic bereaved PTSD group, the DC of the left postcentral gyrus was negatively correlated with C1 (avoid trauma-related thoughts, feelings) score in CAPS ( r=-0.606, P=0.028). In acute bereaved PTSD group, the DC of the left medial superior frontal gyrus was negatively correlated with D4 (high vigilance) score ( r=-0.416, P=0.020). Conclusion:There exist functional abnormalities of multiple brain regions in acute and chronic bereaved parents with PTSD.The high arousal symptoms of the former may be related with the abnormalities of prefrontal-amygdala neural circuit, while the latter show higher avoidance which may be associated with the dysfunction of somatosensory brain regions such as postcentral gyrus.

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

Objective:To investigate the effect of coping style on the gray matter volume in patients with post-traumatic stress disorder (PTSD) who lost their only child, and the mediating role of gray matter volume in evaluating the influence of coping style in clinical symptoms of these parents.Methods:A total of 57 parents with PTSD (PTSD group) and 162 parents without PTSD (non-PTSD group) who lost their only child from September 2016 to March 2017 were enrolled from Jiangsu Province, China. Brain MRI data at resting state were collected. Voxel-based multiple regression analysis was performed to confirm the brain areas in which coping style main effect, diagnosis main effect and their interaction had significant influences in gray matter volumes. Correlations among gray matter volume of brain areas related to coping style, coping style scale scores, and clinician-administered PTSD scale (CAPS) scores were analyzed. Structural equation modeling was used to analyze the mediating role of gray matter volume in the influence of coping style in clinical symptoms of parents lost their only child.Results:(1) The coping style main effect did not significantly influence the gray matter volume in all subjects, and the diagnosis main effect had significant influence in gray matter volume in the right lingual gyrus; their interaction had significant influence in gray matter volume in the right peritalar fissure cortex and lingual gyrus. The positive coping style in the PTSD group had significant influence in the gray matter volumes of the right peritalar fissure cortex and lingual gyrus. (2) In the PTSD group, the scores of positive coping style were positively correlated with the gray matter volumes of the right talus fissure and the lingual gyrus ( P<0.05); the scores of positive coping style, and the gray matter volumes of the right talus fissure and the lingual gyrus were negatively correlated with scores of CAPS-C 5 and CAPS-C ( P<0.05). (3) In the PTSD group, positive coping style can positively predict the gray matter volumes of the right talus fissure and the lingual gyrus; the gray matter volumes of the right talus fissure and the lingual gyrus can negatively predict the avoidance-related symptoms. Conclusion:Positive coping style has influence in the gray matter volumes of the right talar fissure and lingual gyrus of PTSD patients lost their only child; and less positive coping style may affect the brain areas related to visual information processing, thus aggravating avoidance-related symptoms of PTSD patients.