0.05).Conclusion Multi-disciplinary techniques combined with 125Ⅰ seeds implantation is effective in the management of the malignant obstructive jaundice.No significant difference for relief and liver function were found between CT-guided and during operation interstitial 125Ⅰ seeds implantations,but it seems more quickly relief or recovery was achieved in the latter.

OBJECTIVETo detect SCN4A gene mutation in a pedigree with paramyotonia congenita in order to facilitate genetic counseling and assisted reproduction.

METHODSClinical data of the family was collected. DNA was extracted from peripheral blood samples. Potential mutation of the SCN4A gene was screened using PCR-Sanger sequencing. Potential mutation was detected in 3 affected relatives, 4 unaffected relatives and 100 unrelated healthy controls. Bioinformatics software was used to predict the effect of mutation on the protein function and conservation of the sequence at the mutation site across various species.

RESULTSA novel missense mutation c.4427T>C (p.Met1476Thr) was detected in the exon 24 of the SCN4A gene in the proband and other 3 affected relatives, but not in 4 unaffected relatives and 100 unrelated controls. Bioinformatic analysis indicated that the codon is highly conserved across various species, and that the mutation has caused damage to the structure and function of SCN4A protein.

CONCLUSIONThe c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene may contribute to the paramyotonia congenita. Detection of SCN4A gene mutation is an effective method for the diagnosis of paramyotonic congenita.

Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Exons ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Myotonic Disorders ; genetics ; NAV1.4 Voltage-Gated Sodium Channel ; genetics ; Pedigree ; Point Mutation ; Sequence Alignment

Six diseases have been found after disease surveys on Notopterygium incisum in Gansu province during 2004 to 2007. They were brown spot (Ascochyta levistici), powdery mildew (Erysiphe heraclei), grey spot (Alternaria sp. ; Alternaria burnsii), leaf spot (Septoria dearnessii), angular leaf spot (Pleospora sp.), leaf streak (Phoma sp.), bacterial angular leaf spot and a virus disease. Bacterial angular leaf spot and powdery mildew are the urgent problems waiting to be solved effectively. All these diseases were reported for the first time in China.
Apiaceae ; microbiology ; virology ; Ascomycota ; isolation & purification ; pathogenicity ; Bacteria ; isolation & purification ; pathogenicity ; China ; Plant Diseases ; microbiology ; virology ; Viruses ; isolation & purification ; pathogenicity

OBJECTIVETo analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias.

METHODSThe patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced.

RESULTSTwo patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which included 5 genotypes formed by 6 types of mutations, i.e., p.G203S/p.R227Q, p.R227Q/p.R246Q, p.Q6X/p.Q71X, p.L20P/p.G203S, and p.Q71X/p.R227Q. Mutations of the SRD5A2 gene were present in 32% (8/25) of all patients, 35% (8/23) in those with a normal karyotype, and 44.4% (8/18) in those with proximal type hypospadia. Bioinformatic analysis, literature review and pedigree analysis confirmed that all such mutations are pathogenic.

CONCLUSIONChromosomal anomalies and mutations of the SRD5A2 gene are the main cause of hypospadias. Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; genetics ; metabolism ; Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Hypospadias ; enzymology ; genetics ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Membrane Proteins ; genetics ; metabolism ; Mutation ; Young Adult

Objective: To understand the exposure to second hand smoking (SHS) and associated factors among middle school students in Beijing, and to provide data support for tobacco control. Methods: The two stage stratified cluster random sampling method were used to select 10 532 students from 370 classes in 48 junior middle schools, 34 senior high schools and 14 vocational high schools in 16 districts of Beijing. The national unified paper questionnaire was used to collect the information. Results: During the past 7 days, 71.5% (95% CI =70.2%-72.7%) of students reported exposure to SHS. The proportion of exposure was highest (60.3%) in outdoor public places, followed by indoor public places (48.9%), at home (34.1%), and public transport (19.1%). About 31.6% of students reported people smoking in the campus in the past 30 days. Risk factors of SHS exposure included one or more parents was smoker( OR =2.62), friends who smoked( OR =2.13), received education on tobacco hazards in school( OR = 0.74 ), and senior high school( OR =0.68-0.73)( P <0.05). Conclusion High exposure to second hand smoking among middle school students in Beijing is common. Implementation of the regulations and the publicity of tobacco hazards and tobacco control in schools should be strengthened. Smoke free household should be advocated, and middle school students, especially junior middle school students, should be protected from the harm of SHS.

Objective To explore the effects of HPV16 E6 on genes and signaling pathways in cervical epithelial cells and to screen genes associated with oncogenic transformation.Methods HUCEC models infected with HPV16 E6 were constructed,and transcriptome sequencing was performed to screen for differentially expressed genes(DEGs),which were subjected to Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment to analyze the differential signaling pathways.RT-qPCR was used to validate major differentially down-regulated expressed genes.After predicting the major differentially expressed proteins by molecular docking analysis,the expression of major differential genes in HUCEC cell model was verified by RT-qPCR and Western blotting.In addition,RT-qPCR and Western blotting were used to further verify the expression of major differential genes in cervical cancer cell lines,SiHa and CaSki.Results A total of 55 genes with more than two-fold differential expression were screened.The results centering on down-regulated genes showed that the negatively regulated differential gene was mainly enriched in redox processes;KEGG enrichment analysis revealed that it was mainly associated with carbohydrate metabolism and cancer.RT-qPCR results showed that the down-regulated differential expression trends of the selected 10 genes were basically consistent with the sequencing results.Molecular docking analysis predicted an interaction between DHRS2 and HPV16 E6,and RT-qPCR and Western blotting confirmed that HPV16 E6 down-regulated DHRS2 mRNA(P＜0.01)and protein(P＜0.05)and ETV5 protein expression(P＜0.01).In SiHa and CaSki cells,compared with the control group,the mRNA and protein expression of DHRS2 was downregulated and positively correlated with the trend of P53 protein expression(P＜0.05).Conclusion HPV16 E6 can mediate oncogenic transformation of cervical cells and promote cervical carcinogenesis through downregulating DHRS2 expression.

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective: To explore the feasibility of using da Vinci Surgical System to perform supraomohyoid neck dissection (SOND) to avoid visible scar and reduce trauma. Methods: Between September 2017 and December 2018, twenty patients (two females and 18 males, mean age, 54.8 years) with oral cancer treated in the Department of Stomatology, Hainan Hospital of General Hospital of Chinese PLA were enrolled in this study. Eight patients were assigned into robotic surgery group, and received robot-assisted SOND with retroauricular hairline incision. After the da Vinci Surgical System robotic platform was positioned, the neck dissection was performed in level Ⅱb, Ⅱa, Ⅲ, Ⅰb and Ⅰa orderly from the near region to far region. The other 12 patients were assigned into traditional surgery group, and received SOND with a traditional incision. The operation time, bleeding and amount of lymph node dissected were compared between two groups. Results: All the 8 cases of robot-assisted SOND were completed smoothly. Operation time [(4.5±1.0) h] was significantly longer in robotic surgery group than that [(2.5±1.0) h] in traditional surgery group (P<0.05). The amount of bleeding in robotic surgery group [30.0 (27.5) ml] was significantly lower than that in traditional surgery group [(100.0 (87.5) ml, P<0.05]. There′s no difference in the number of lymph nodes dissected between robotic surgery group (23.6±5.2) and traditional surgery group (22.8±6.0)(P>0.05). No postoperative hemorrhage, symptoms of nerve injury, flap necrosis and secondary healing were observed in robotic surgery group. Conclusions SOND through retroauricular hairline incision is feasible with the assistance of da Vinci Surgical System. The main advantage of this method is superior esthetic effects due to a hidden incision with minimal bleeding. There was no obvious differences in the amount of lymph nodes dissected and postoperative complications between two methods. However, robotic surgery costs a significantly longer operation time than traditional neck dissection.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.