Psychological effects of the mandibular angle osteotomy on female patients / 中华医学美学美容杂志

Objective:To explore the psychological status of female patients with mandibular angle hypertrophy before and after receiving mandibular angle osteotomy (MAO) using psychological measurement methods.Methods:The study included 36 female patients (age ranged 18-35 years, with mean age of 23 years) who underwent bilateral mandibular angle osteotomy at the Department of Burns and Plastic Surgery, Naval Medical University. Symptom Checklist-90 (SCL-90), Self-Rating Anxiety Scale (SAS), and Self-Rating Depression Scale (SDS) were used to assess the patients′ psychological status before and after surgery. SPSS 18.0 was used to compare the preoperative and postoperative data with the national norms.Results:According to the SCL-90 questionnaire, the scores of the six factors, including obsessive-compulsive symptoms (2.24±0.43 vs. 1.62±0.58, P<0.01), interpersonal sensitivity (1.85±0.46 vs. 1.65±0.61, P=0.02), depression (1.91±0.43 vs. 1.50±0.59, P<0.01), anxiety (1.75±0.42 vs. 1.39±0.43, P<0.01), hostility (1.86±0.45 vs. 1.46±0.55, P<0.01), and paranoia (2.18±0.46 vs. 1.43±0.57, P<0.01) of patients before surgery were significantly higher than the national norms. One month after surgery, there was a significant improvement in SAS and SDS scores compared to preoperative scores ( t=8.0, 10.4, P<0.01). The SAS score decreased from 43.0±9.8 to 37.5±6.8, and the SDS score decreased from 47.1±10.6 to 39.4±7.5. There was no statistically significant difference in the depression and anxiety indices of SCL-90 compared to the national norms ( P>0.05). Conclusions:Mandibular angle osteotomy significantly improves the psychological health of female patients with mandibular angle hypertrophy and can alleviate the symptoms of anxiety and depression.

Molecular cytogenetic study of a case with ring chromosome 15 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient featuring developmental delay.@*METHODS@#The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR).@*RESULTS@#The proband's karyotype was ascertained as 46,XX, r(15)(p11.2q26.3)[92]/45,XX,-15[9]/46,XX, dic r(15)(p11.2q26.3;p11.2q26.3)[4]. SNP-array revealed that she has carried a de novo deletion at 15q26.3 (98 957 555-102 429 040) spanning approximately 3.4 Mb, which encompassed the IGF1R gene. qPCR has confirmed haploinsufficiency of exons 3, 10 and 20 of the IGF1R gene. Both of her parents had a normal karyotype.@*CONCLUSION@#The abnormal phenotype of the proband may be attributed to the microdeletion at 15q26.3, in particular haploinsuffiency of the IGF1R gene and instability of the ring chromosome. Cytogenetic method combined with SNP-array and qPCR can efficiently delineate chromosomal aberrations and provide accurate information for clinical diagnosis and genetic counseling.

Genetic study of a child with developmental delay and mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with developmental delay and mental retardation.@*METHODS@#Chromosomal karyotype of the child was analyzed by G-, C- and N-banding techniques. Her genome DNA was analyzed with single nucleotide polymorphisms array (SNP array). The result was validated by fluorescence quantitative polymerase chain reaction (PCR).@*RESULTS@#The karyotype of the child was ascertained as 46,XX,r(22)(p12q13). SNP array has revealed a deletion of approximately 1.4 Mb at 22q13.33 (49 802 963-51 197 766). The deletion has encompassed the SHANK3, a crucial gene for the development of nervous system. Fluorescence quantitative PCR has confirmed the deletion of exons 7, 19 and 22 of the SHANK3 gene.@*CONCLUSION@#The phenotype of the patient may be attributed to the microdeletion at 22q13.33. Cytogenetic methods combined with SNP array and fluorescence quantitative PCR can identify aberrant chromosomes and provide accurate information for the clinical diagnosis and genetic counseling.

Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion / 中华医学遗传学杂志

Objective@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*Methods@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*Results@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*Conclusion@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.

Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion / 中华医学遗传学杂志

OBJECTIVE@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*METHODS@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*RESULTS@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*CONCLUSION@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.

Application and Prospect of Automatic Control Technology in Extraction of Chinese Medicine / 世界科学技术-中医药现代化

In our country, the technology of extraction and separation of traditional Chinese medicine is backward relatively. The production process is extensive and the equipment level is low relatively. The manufacturing process is mainly based on unit operation and manual operation. The automatic control of the whole process has not been realized, which has seriously restricted the modernization of traditional Chinese medicine industry. If automatic control technology applied to traditional Chinese medicine in the extraction process, the process parameters of operation will be in the effective and strict monitoring and control, so as to improve the product quality and production efficiency, reduce costs, to achieve the green production. In this paper, the current situation and the application of new automation technology in the process of extraction traditional Chinese medicine in recent years were summarized, in order to provide a reference for Chinese medicine green and intelligent production.

Diagnosis of a case with partial 9p trisomy by next generation sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for a child featuring growth and mental retardation.@*METHODS@#Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result.@*RESULTS@#The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding.@*CONCLUSION@#The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.

Application of next generation sequencing for the analysis of patients with spontaneous abortion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of next generation sequencing (NGS) for the analysis of spontaneous abortion samples.</p><p><b>METHODS</b>The NGS analysis was carried out on 85 chorionic villi samples (taken between 42 days to 12 weeks of gestation) for which conventional cell culture has failed or chromosomal karyotyping has yielded normal or uncertain result.</p><p><b>RESULTS</b>Among 68 samples with a normal karyotype, the NGS analysis has identified 2 copy number variations (CNVs) and 2 chimeras. For 16 cases with failed cell culture, the NGS has identified 4 chromosomal abnormalities including 1 copy number variation and 3 numerical chromosomal aberrations. For 1 remaining case with uncertain karyotyping result, the NGS analysis has verified it as 46,XX,del(4) (p15.1p16.3).seq[GRCh37/hg19] (57 549 - 32 371 364)×1.</p><p><b>CONCLUSION</b>The NGS analysis is capable of identifying novel CNVs in samples for which conventional cell culture may fail or karyotyping analysis may yield a normal result.</p>

A study on the risk factors for stroke among dialysis patients / 实用医学杂志

Objective To assess the mortality and risk factors for stroke among dialysis patients with different dialysis modality. Methods 590 patients who underwent hemodialysis (HD) or peritoneal dialysis (PD) from January 2008 to December 2012 were recruited in our study, and categorized according to dialysis modality. The prognostic risks of stroke were hazard ratio of risk was calculated by Cox regression analysis in HD and PD patients respectively. by the Kaplan?Meier curves or the Cox proportional hazards model. Results A total of 590 patients is under a median follow?up of 32.5 months. The stroke incidence rate of 49.2/1, 000 patient?years in total patients, and 74.1/1, 000 patient?years in HD patients, which was significantly higher compared with that of 31.8/1,000 patient?years in PD patients. On multivariate analysis, independent predictors of stroke occurrence were age(HR=1.05;95%CI:1.02~1.09;P=0.003)、diabete(HR=1.98;95%CI:1.31~3.46;P=0.001)、CVD(HR=2.06;95%CI:1.62-3.05;P < 0.001)、Total triglycerides(HR = 1.20; 95% CI:1.08-1.58; P = 0.034) and hemodialysis (HR = 2.03; 95% CI:1.46-3.89; P = 0.005). Conclusions Age, diabete, CVD, total triglycerides and hemodialysis are independently associated with increased stroke risks in dialysis patients, which suggest that these patients should pay attention to weight control and glucose control.

Improved identification for trisomy 9p and partial trisomy 6q presented in a patient by array-based comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the genetic cause for a child with growth retardation and mental retardation and discuss the application of array-based comparative genomic hybridization (aCGH) in its molecular genetic diagnosis.</p><p><b>METHODS</b>Conventional karyotyping of peripheral blood for the family was carried out. aCGH was performed to further ascertain the size and origin of the additional chromosome fragments.</p><p><b>RESULTS</b>In the trio family here, the karyotype of the father was normal, the karyotype of the mother was 46,XX, t(6;9)(q26;q21)and the proband child's was 47,XX,+der(9)?t(6;9)(q26;q21). aCGH showed that the extra chromosomal fragments originated from chromosome 9p24.3-q21.13 and the size was 78.26 Mb, and the repeat region included the 9p trisomy's clinical area. At the same time, it was confirmed that 6q26-q27 was trisomic and the fragment that related to development delay was 6.6 Mb. We determined that the proband's karyotype was 47,XX,+der(9)t(6;9)(q26;q21.13)mat finally.</p><p><b>CONCLUSION</b>The patient's abnormal chromosome has originated from her mother with balance translocation. The duplications of 9p24.3-q21.13 and 6q26-q27 may lead to growth retardation and mental retardation. Accompanied with the cytogenetic methods, aCGH can accurately identify the origin and size of the abnormal chromosomes, contributing to the genetic analysis.</p>