Genetic analysis of a child with mental retardation and hypospadia / 中华医学遗传学杂志

Objective@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*Methods@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*Results@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46, XX, ish ins(11; 2)(p15; q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46, XY, ish der(11)ins(11; 2)(p15; q33q36)mat.@*Conclusion@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.

Genetic analysis of a child with mental retardation and hypospadia / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.

Application of single nucleotide polymorphism array for the identification of pathogenic copy number variations in fetuses with malformations and women with an adverse reproductive history / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism microarray (SNP array) for the detection of genome-wide copy number variations(CNVs) in fetuses with malformations and women with an adverse reproductive history, and to explore the correlation of rare CNVs with the clinical manifestations.</p><p><b>METHODS</b>Amniotic fluid and umbilical cord blood samples were collected from 314 women with singleton pregnancy. SNP array was performed on samples where chromosomal abnormalities were excluded after G-banding analysis.</p><p><b>RESULTS</b>Pathological CNVs were detected in 8.91% (28/314) of all samples, which included 11 duplications, 9 deletions, 4 loss of heterozygosity (LOH), and 4 conjoined deletions and duplications. The sizes of duplications and deletions were between 0.47 Mb and 16.7 Mb, and between 0.16 Mb and 13.3 Mb, respectively. Fifteen CNVs were mapped to the regions of microdeletion or microduplication syndromes or regions associated with clinical manifestations, while the remainder 13 were considered benign or variant of uncertain significance.</p><p><b>CONCLUSION</b>A proportion of fetuses with malformations and women with an adverse reproductive history may be attributed to CNVs, half of which are mapped with to the regions of well known syndromes. SNP array may facilitate discovery of new syndromes and provide a basis for genetic counseling and prenatal diagnosis.</p>

Prenatal diagnosis of a case of Pallister-Killian syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease.</p><p><b>METHODS</b>Standard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array.</p><p><b>RESULTS</b>The patient's G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nucish (RP11-104 b5, a19 RP11-956) × 4 [19/100］, whilst the karyotype of fibroblast cells was 47,XY,+i(12) (p10 [44]/46, XY[56].</p><p><b>CONCLUSION</b>By combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively.</p>

Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the value of next-generation sequencing for the non-invasive prenatal testing of fetal chromosomal aneuploidies.</p><p><b>METHODS</b>Plasma from 4004 women with singleton pregnancy at a gestational age between 12-35(+5) weeks was collected prior to amniocentesis between April 19th 2011 and December 31st 2013. The samples were divided into three groups: (1) High risk for Down syndrome by biochemical screening; (2) Advanced maternal age; (3) Abnormalities by ultrasound or other methods. Plasma DNA extracted from above samples was sequenced at low coverage. Positive results were verified against the karyotypes of the fetuses. For those with negative results, the fetuses were followed up by telephone call for at least six months after birth.</p><p><b>RESULTS</b>Among 4003 samples subjected to non-invasive prenatal diagnosis, 66 (1.65%) had a positive result. In group 1, 22 cases of trisomy 21 (T21), 3 cases of trisomy 18 (T18), 1 case of 13 trisomy (T13), 8 cases of 45,X and 2 cases of other chromosomal abnormality were detected. In group 2, 13 cases of T21, 2 cases of T18, 1 case of T13, 5 cases of 45,X, 2 cases of 47,XXN and 1 case of other chromosomal abnormality were detected. In group 3, 1 case of T21, 1 case of T18, 1 case of T13, and 3 cases of 47,XXN were detected. For 55 samples underwent prenatal diagnosis, 30 cases of T21 and 4 cases of T18 were discovered, which was consistent with the results of non-invasive prenatal diagnosis. For the 13 cases indicated as 45,X, 3 were verified by karyotype analysis, 2 were verified as mosaicism (45,X/46,XN), 8 were 46,XN (false positives). For the 5 cases indicated as 47,XXN, 2 were verified by karyotype analysis, the other 3 were 46,XN (false positives). Karyotypes of 3 cases suspected for other chromosomal abnormalities were all verified as 46,XN (false positive). Until May 1st 2014, telephone follow-up for those with negative screening results only identified a boy with facial abnormalities and developmental delay, which was similar to his older sister, combined karyotyping and fluorescence in situ hybridization analysis has verified the karyotype of the boy as 46,XY,rec(14)dup(14q)inv(14)(p12q14)pat.</p><p><b>CONCLUSION</b>Our results indicated that sequencing of plasma free DNA can rapidly detect fetal chromosomal aneuploidies. The method is non-invasive, and the results are highly consistent with karyotype analysis in terms of accuracy and specificity. Non-invasive testing can be used as an effective adjunct to conventional prenatal diagnostic methods, which can greatly reduce unnecessary invasive prenatal diagnosis. However, the sensitivity and accuracy for aneuploidy detection other than chromosome 13/18/21 still need to be improved.</p>

Association between socioeconomic status and esophageal squamous cell carcinoma in the population of Taixing area, Jiangsu province / 中华流行病学杂志

Objective To study the relationship between socioeconomic status (SES) and esophageal squamous cell carcinoma(ESCC) in Taixing city,Jiangsu province.Methods A populationbased case-control study was carried out to collect data including demography,socioeconomic status indicators and possible risk factors.Unconditional logistic regression was used to compare different SES indicators and composite wealth scores constructed between cases and controls,using the principal component analysis methodology.Results Factors as:having received high school or higher education (OR=0.66,95％CI:0.46-0.96),living space over 67 m2 per-capita (OR=0.71,95％CI:0.54-0.94),drinking tap water longer than 5 years (OR=0.76,95％ CI:0.59-0.98) and wealth score ＞0.93 (OR=0.63,95％CI:0.48-0.83) were associated with increased risk of ESCC.Compared to those worked in farming,forestry,animal husbandry,fishery and water conservancy,the individuals who worked in business-service industry were at lower risk of ESCC (OR =0.65,95％CI:0.43-0.97).Conclusion An inverse association of low SES and ESCC were found in Taixing people that called for further explanation.

"Preliminary research in construction of ""school-community"" health education network" / 中国实用护理杂志

Objective By discussion on the construction of school-community health education network,we can identify suitable community practice ways of improving students' comprehensive ability,enrich community health teams and meet the health demand of community residents.Methods Take Grade 08 and Grade 09 as the test classes.Two classes were selected from each grade,one class was set as the experimental group,the other was named as the control group.The communication skills,critical thinking skills,teamwork skills and the ability of getting the specific knowledge after the community practice for a year were compared between the two groups in each grade separately.At the same time,we assessed the community residents from the following four aspects,knowing about the health information,residents' health beliefs,their change in attitude,their adoption of healthy behaviors,and compared their knowledge of health information about three diseases.Results The results showed that the four mentioned abilities of the experimental groups were significantly improved.The community residents' health information awareness rate after the health education was significantly different compared with that before.There was no significant difference among three other levels.Conclusions Construction of school-community health education network can improve the students' comprehensive quality,it is beneficial to the survival and the development of health schools,and it can meet the needs of community residents,enrich the community health service team,and can also promote the change of teaching ideas.

Task-driven basic nursing probation based on the action research / 中国实用护理杂志

Objective To discuss the application effect of task-driven basic nursing probation based on the action research. Methods Using the frame of Lewin's action research, with random sampling, we selected a class for the study, for the first time in the traditional training model, and the second time in the task-driven model based on the action research. and information was collected according to the interviews and diary records, narrative description was used for records of the results. Results Action research promoted changes in basic nursing probation model, constructed knowledge, ability and improved various kinds of ability of nursing students. Conclusions The task-driven probation model improved the quality of clinic practice, which proved to be effective.

Research on quality specification of Herba Justiciae / 中国中药杂志

<p><b>OBJECTIVE</b>To provide scientific basis for the utilization and development of Herba Justiciae by setting up the quality control specification of Herba Justiciae.</p><p><b>METHOD</b>Moisture and ash were determined by aquametry and method of ash determination. And the bioactive constituents were analyzed by HPLC.</p><p><b>RESULT</b>The contents of total ash, acid-insoluble ash, and moisture of 28 samples from different origins were determined. The quantitative analysis of chinensinaphthol methyl ether by HPLC were preformed, respectively.</p><p><b>CONCLUSION</b>The established method can be used for the quality control of Herba Justiciae.</p>