OBJECTIVE: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly. METHODS: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree. RESULTS: The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5). CONCLUSION The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
China ; Female ; Humans ; Mutation ; Pedigree ; Polydactyly/genetics* ; Thumb ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS). METHODS: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls. RESULTS: The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases. CONCLUSION The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
Amyotrophic Lateral Sclerosis/genetics* ; China ; Heterozygote ; Humans ; Superoxide Dismutase-1/genetics* ; Whole Exome Sequencing

Objective The aim of this study was to evaluate the value of pleural effusion heparin-binding protein ( HBP) in differential diagnosis of parapneumonic effusion .Methods Case-control study. The pleural effusion of 189 patients with pleural effusion admitted to Quzhou People's Hospital from February to July 2018, including parapneumonic effusion (n=72), tuberculous pleural effusion (n=24), cases of malignant pleural effusion ( n=46 ) and transudative pleural effusion ( n=47 ) were collected.Routine analysis,lactate dehydrogenase(LDH),adenosine deaminase (ADA) and total protein(TP)examination of all pleural effusions were performed .The levels of heparin-binding protein in the patients'pleural fluid were measured by ELISA.The difference in the overall level of each group was determined by One-way ANOVA or LSD test followed by Kruskal-Wallis H test dependence on the homogeneity of variances .The categorical data was analyzed by chi-square test.Receiver operating characteristic ( ROC) curve was plotted to evaluate the diagnostic value of heparin-binding protein for parapneumonic effusion . Results The concentration of heparin-binding protein was low in malignant pleural effusion [15.2(8.4, 33.3) ng/ml] and transudative effusion[14.1(6.5, 23.0)ng/ml], but high in parapneumonic effusion[316.1(99.5,399.8)ng/ml]and tuberculous pleurisy [64.7 (18.6, 96.8) ng/ml] .The heparin-binding protein level in parapneumonic effusion was significantly different from the other three groups (H=120.3,P<0.05).The receiver operating characteristic curve analysis for an optimal discrimination between parapneumonic effusion from non -parapneumonic effusion could be performed at a cut-off point of 64.2 ng/ml with area under the curve of 0.953[sensitivity:88.9％(64/72), specificity:89.7％(105/117),positive predictive value:84.2％(64/76), negative predictive value:92.9％(105/113)].Conclusions Heparin-binding proteinin pleural fluid is effective to be used to classify parapneumonic effusion samples .The detection of heparin-binding protein in pleural effusion has good sensitivity and specificity .It could be a biomarker for differential diagnosis of parapneumonic effusion .

OBJECTIVE:To observe therapeutic efficacy and safety of escitalopram and fluoxetine in the treatment of depres-sion. METHODS:106 patients with depression were randomly divided into observation group and control group with 53 cases in each group. Observation group was given escitalopram 10-20 mg,qd,and control group was given 20-40 mg,qd. Both groups were treated with 6 weeks. The levels of IL-2,IL-6,TNF-α and Hcy were observed in 2 groups,and HAMD and TESS were re-corded in 2 groups. RESULTS:Total effective rate of observation group (86.79%) was higher than that of control group (77.36%),with statistical significance(P>0.05);after treatment,the levels of IL-2,IL-6,TNF-α and Hcy decreased significant-ly in 2 groups,the observation group was lower than the control group,with statistical significance (P<0.05). After treatment, emotion,mental anxiety,sleep disorder,cognitive disorder,somatic anxiety score and HAMD total score all decreased significant-ly in 2 groups,the observation group was significantly lower than the control group,with statistical significance(P<0.05). TESS score of observation group was significantly lower than that of control group 3 weeks and 6 weeks after treatment,with statistical significance (P<0.05). CONCLUSIONS:Escitalopram is similar to fluoxetine in the treatment of depression,but escitalopram can improve inflammatory response significantly and decrease the level of Hcy with mild ADR.

Objective To study the state-trait anxiety and behavior life style in patients with abrupt deafness before hyperbaric oxygen therapy and analyze the cause of abrupt deafness and untoward behavior life style for treatment. Methods Patients with abrupt deafness (60 cases) were investigated about their condition of state-trait anxiety and behavior life style by state-trait anxiety inventory (S-AI) and self-designed questionnaires. Results The score of S-AI was (47.55±8.32),which was higher than that of normal healthy people (39.31±8.66).Untoward behavior life style existed in many patiants,such as unreasonable diet,high mental pressure, unbalance of mental state, no disciplinarian in work and rest, un-healthy behavior life style, unmerited health seeking behavior, etc. Conclusions Nurses should supply health education about relative knowledge selectively to patients with abrupt deafness in order to increase the health seeking behavior and establish healthy behavior life style for them.

Objective To describe the epidemiology of sexually transmitted diseases(STDs)and to analyze trends of the distribution of reported STDs cases in FengTai district of Beijing from 2002 to 2008 so as to provide baseline information for STDs prevention and control.Methods Database of reported STDs cases in FengTai district from 2002 to 2008 was analyzed.Results A toal of 15,900 STDs cases were reported in Fengtai district from 2002 to 2008.Of the reported cases 10,579 were males,and 5,321 were females.The ratio of males to females was 1.99∶1.The age ranged from 4 days to 94 years;71.65% of the cases were aged 20-40 years.The ratio of the married to the bachelor was 2.68∶1.The majority of the STDs cases were workers(13.47%),officers(15.55)and unemployed(19.89%).The average incidence rate of overall STDs was 151.33 per 100 thousand per year.The average specific incidence rates of gonorrhea,condyloma acuminatum,nongonococcal urethritis,syphilis,genital herpes,HIV infection and AIDS were 43.57,38.77,36.97,23.61,4.51,3.21,and 0.69 per 100 thousand per year,respectively.Conclusion While the incidence rates of STDs has continued to decrease from 2002 to 2008,especially for nongonococcal urethritis and gonorrhea,the incidence rates of AIDS and syphilis are increasing.This trend may continue over the next few years.It is necessary to develop taygeted strategy to prevent and control STDs in Feng Tai district.