Relationship between 22q11 microdeletion syndrome and congenital heart disease / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.</p><p><b>METHODS</b>Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.</p><p><b>RESULTS</b>22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease. The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2% (P < 0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5% (P < 0.01). In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients.</p><p><b>CONCLUSION</b>22q11 microdeletion syndrome is related to congenital heart disease.</p>

Retrospective study on neonatal screening for congenital hypothyroidism and phenylketonuria in China in the past 22 years / 中华儿科杂志

<p><b>OBJECTIVE</b>The retrospective study was carried out to investigate the nation-wide neonatal screening program in the past 22 years in China. This study aimed to summarize the experience, analyze the questions and concerns in the screening program.</p><p><b>METHODS</b>All data on the national neonatal screening in the past 22 years were from National Center for Clinical Laboratory. Study items included the development and mode of the program, screening method adopted as well as the clinical records of prevalence, treatment and follow-up etc.</p><p><b>RESULTS</b>Neonatal screening has become universal since 1985 in China. There were three modes of screening and treatment. From 1985 to 2006, a total of 13,229,242 newborns were screened for congenital hypothyroidism (CH) and 6505 were diagnosed as CH at a prevalence of 49.2/100,000; a total of 13,666,750 newborns were screened for phenylketonuria (PKU), and 1,170 were diagnosed as PKU at a prevalence of 8.6/100,000. The prevalence of CH increased year by year and the western regions in China had a much higher prevalence. The prevalence of PKU was relatively more steady than that of CH in China.</p><p><b>CONCLUSIONS</b>Neonatal screening is of paramount importance in preventing mental retardation and developmental delay after CH and PKU. It is necessary to attach more importance to increase the rate of coverage, screening and treatment, as well as social awareness of neonatal screening. It is important to focus on establishment of new screening techniques so as to improve the level of child health care in China.</p>

Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate clinical features and the diagnosis by fluorescence in situ hybridization (FISH) of 22q11 microdeletion syndrome (22q11 DS).</p><p><b>METHODS</b>The clinical data of suspects were analyzed, and their peripheral blood samples were tested by FISH for microdeletion of 22q11. The diagnosis and correlated clinical factors of 22q11 DS were investigated by using the multiple factor Logistic regression analysis and Chi-square test.</p><p><b>RESULTS</b>In 64 suspects, 14 were shown to have 22q11 microdeletion with many different types of malformation, and the percentage was 21.9%. The Logistic regression predictive equation for 22q11 DS was: y=-8.206+2.324x1+2.725x2+1.674x3, P=exp(y)/[1+exp(y)], in which the concomit ant variables were facial dysmorphic features (x1), congenital heart defects (x2), thymus scarcity/infection problem (x3), the P value meant the probability of diagnosis of 22q11 DS.</p><p><b>CONCLUSION</b>Accurate clinical evaluation is just as preliminary screening to patients at risk for del22q11. The results of FISH test can be predicted by using the suitable Logistic regression equation.</p>

Cardiovascular manifestations in 40 patients with Williams syndrome / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the cardiovascular manifestations of Williams syndrome (WS) confirmed by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Between July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were assessed by echocardiography and Doppler echocardiography.</p><p><b>RESULTS</b>Forty out of 71 patients were detected to have Elastin gene locus microdeletion, 25 patients (25/40, 62.5%) had at least one cardiac anomaly; among these patients, supravalvular aortic stenosis (SVAS) was diagnosed in 18 patients (18/25, 72%) and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed in 3 patients (3/25, 12%, 1 was associated with other malformations), isolated pulmonary stenosis in 1 patient (1/25, 4%), isolated coarctation of aorta in 2 patients (2/25, 8%), and hypertension in 2 patients (2/25, 8%), mild aortic regurgitation in 2 patients, mild mitral regurgitation and moderate mitral regurgitation in 3 patients respectively.</p><p><b>CONCLUSION</b>A detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.</p>

Study on the Social Adaptation of Chinese Children with Down Syndrome

PURPOSE: To evaluate social adjustment and related factors among Chinese children with Down syndrome (DS). PATIENTS AND METHODS: A structured interview and Peabody Picture Vocabulary Test (PPVT) were conducted with a group of 36 DS children with a mean age of 106.28 months, a group of 30 normally-developing children matched for mental age (MA) and a group of 40 normally-developing children matched for chronological age (CA). Mean scores of social adjustment were compared between the three groups, and partial correlations and stepwise multiple regression models were used to further explore related factors. RESULTS: There was no difference between the DS group and the MA group in terms of communication skills. However, the DS group scored much better than the MA group in self-dependence, locomotion, work skills, socialization and self-management. Children in the CA group achieved significantly higher scores in all aspects of social adjustment than the DS children. Partial correlations indicate a relationship between social adjustment and the PPVT raw score and also between social adjustment and age (significant r ranging between 0.24 and 0.92). A stepwise linear regression analysis showed that family structure was the main predictor of social adjustment. Newborn history was also a predictor of work skills, communication, socialization and self-management. Parental education was found to account for 8% of self-dependence. Maternal education explained 6% of the variation in locomotion. CONCLUSION: Although limited by the small sample size, these results indicate that Chinese DS children have better social adjustment skills when compared to their mental-age-matched normally-developing peers, but that the Chinese DS children showed aspects of adaptive development that differed from Western DS children. Analyses of factors related to social adjustment suggest that effective early intervention may improve social adaptability.

On the behaviour,learning and memory in rats with perinatal hypothyroidism / 中华内分泌代谢杂志

The results of open-field test,step-through passive avoidance task and radial-arm maze experiment showed that changes of locomotor activity,anxiety-related behaviour and ability of learning and memory were associated with the increased apoptosis of neurons in hippocampus in rats with perinatal hypothyroidism.