Objective To investigate the features of familiar facial palsy,ophthalmoplegia and dysphagia characterized by autosomal dominant inheritance in a family and to discuss the classification and pathogenesis of the disease.Methods Clinical,electrophysiological,pathological examinations were performed and blood samples were obtained from 5 patients and 26 family members.PCR protocol was used to identify a certain gene. Results In the 5 patients receiving physical examination,all had ptosis,external ophthalmoplegia,facial paralysis,dyphagia,hoarseness,decreased pharyngeal reflex;4 had amyotrophy of muscle of tongue,temporal nuscle,masseter and muscles of distal lower limbs;3 had proximal limb asthenia and distal limbs amyotrophy.Compared to those of oculopharyngeal muscular dystrophy(OPMD)with similar symptoms and signs,both electrophysiological manifestation and pathological findings of the family members supported the diagnosis of muscular dystrophy,but the(GCG)6(GCA)3GCG in the first exon of PABPN1 mutated neither in normal family members nor in patients.Conclusions This family presents clinical manifestations somewhat resembling to those of OPMD and distinctive to other disorders,but has a totally different genetic background from OPMD.It may be a new subtype of muscular dystrophy.

OBJECTIVESTo study the effects of trichostatin A (TSA) on protein-protein interaction between HBx and histone deacetylase protein 1 (HDAC1).

METHODSBoth HBx and HDAC1 expressing vectors were constructed by the method of routine molecular cloning. The expression of HBx and HDAC1 were observed by Western blot assay. The protein-protein interaction was tested between HBx and HDAC1 by GST pull-down in vitro as well as co-immunoprecipitation in vivo.

RESULTSBoth HBx and HDAC1 expressing vectors were successfully constructed. Protein-protein interaction between HBx and HDAC1 existed both in vitro and in vivo. TSA, an inhibitor of HDAC1, had no effect on the interaction between HBx and HDAC1.

CONCLUSIONSHBx interacts with HDAC1 in vivo and in vitro in a non- TSA dependent way.

Histone Deacetylase 1 ; metabolism ; Humans ; Hydroxamic Acids ; metabolism ; Immunoprecipitation ; Plasmids ; Protein Interaction Mapping ; Trans-Activators ; metabolism

BACKGROUNDGastric stromal tumors arising from the muscularis propria are located in deeper layers. Endoscopic resection may be contraindicated due to the possibility of perforation. These tumors are therefore usually removed by surgical or laparoscopic procedures. This study evaluated the curative effects, safety and feasibility of endoscopic full-thickness resection (EFR) of gastric stromal tumors originating from the muscularis propria.

METHODSThis study enrolled 92 patients with gastric stromal tumors >2.5 cm originating from the muscularis propria. Fifty patients underwent EFR, and 42 underwent laparoscopic intragastric surgery. Operation time, complete resection rate, length of hospital stay, incidence of complications, and recurrence rates were compared in these two groups.

RESULTSEFR resulted in complete resection of all 50 gastric stromal tumors, with a mean procedure time of 85 ± 20 min, a mean hospitalization time of 7.0 ± 1.5 days and no complications. Laparoscopic intragastric surgery also resulted in a 100% complete resection rate, with a mean operation time of 88 ± 12 min and a mean hospitalization period of 7.5 ± 1.6 days. The two groups did not differ significantly in operation time, complete resection rates, hospital stay or incidence of complications (P > 0.05). No patient in either group experienced tumor recurrence.

CONCLUSIONSEFR technique is effective and safe for the resection of gastric stromal tumors arising from the muscularis propria.

Adult ; Female ; Gastric Mucosa ; pathology ; surgery ; Humans ; Laparoscopy ; methods ; Male ; Middle Aged ; Retrospective Studies ; Stomach Neoplasms ; pathology ; surgery ; Treatment Outcome

AIMTo study the effect of curcumin on the expression of prostate specific antigen (PSA).

METHODSAXSYM system-chemical luciferase method was used to examine the content of PSA in prostate cancer cell lines, LNCap after treated with different doses of curcumin. pGL3-PSA luciferase expression vector, containing 640 bp DNA of PSA gene 5' promoter region was constructed and transfected into LNCap cell with lipofectin. Through detecting the activity of luciferase, the effect of curcumin on the promoter of PSA was studied. Western blotting was used to detect expression of androgen receptor (AR) in LNCap cell with different concentrations of curcumin.

RESULTSThe expression of PSA was inhibited and activity of luciferase was reduced by curcumin. There was also significant difference in AR expression as shown by Western blotting experiment after treatment of different doses of curcumin.

CONCLUSIONThrough inhibiting AR expression, curcumin reduced the function of PSA promoter and inhibited PSA protein expression.

Antineoplastic Agents ; pharmacology ; Cell Line, Tumor ; Curcumin ; pharmacology ; Humans ; Luciferases ; metabolism ; Male ; Promoter Regions, Genetic ; drug effects ; Prostate-Specific Antigen ; genetics ; metabolism ; Prostatic Neoplasms ; immunology ; metabolism ; pathology ; Receptors, Androgen ; metabolism

OBJECTIVETo investigate the features of HBx protein distributed in liver cells and its expression in E. coli.

METHODSThe expression vectors encoding the full length HBx and its mutants were constructed by the routine molecular cloning method. HBx protein expression was detected using Western blotting. The distribution feature of HBx protein in liver cells was examined using the fluorescence confocal microscopy. A series of purified HBx fusion proteins were obtained by glutathione-sepharose 4B affinity chromatography.

RESULTSThe expression vectors were successfully constructed for the full length HBx and its mutants. HBx was found distributed uniformly in the nuclei but granularly in the cytoplasm of the liver cells. Under optimal conditions, the mutant GST-HBx (72-120aa) was easily degraded.

CONCLUSIONThis study may provide a basis for further study on the biological function of HBx at the protein level.

Carcinoma, Hepatocellular ; pathology ; Cell Line ; Cloning, Molecular ; Escherichia coli ; metabolism ; Genetic Vectors ; Glutathione Transferase ; biosynthesis ; genetics ; Hepatocytes ; cytology ; metabolism ; Humans ; Liver ; cytology ; Liver Neoplasms ; pathology ; Mutation ; Recombinant Fusion Proteins ; biosynthesis ; genetics ; Trans-Activators ; biosynthesis ; genetics ; Tumor Cells, Cultured

Objective To explore a new outpatient mode for pregnancy nutrition to adapt to digital hospital.Methods The outpatient management mode and methods were analyzed for pregnancy nutrition.A new outpatient mode combining the technologies of mobile internet and remote monitoring was developed with consideration on standardization,and the effect of the new mode was discussed on pregnancy nutrition outpatient.Results Mobile internet technology and remote monitoring technology contributed to enhancing the efficiency of pregnancy nutrition outpatient,and facilitated the nutrition service of common pregnant women as well as the precision and individualized nutrition management of high-risk ones such as those with gestational diabetes mellitus.Conclusion The new outpatient mode enhances the doctor's efficiency and pregnancy care,and thus is worthy promoting practically.

OBJECTIVETo explore a new method for finding more HIV/AIDS.

METHODSIn September 2009, newly reported HIV-infected individuals from May to August, 2009 in Dehong prefecture were asked to participate in a survey which requested demographic characteristics, history of high-risk behaviors and contact information of individuals with whom they had high risky contacts. People with risky contacts with HIV-infected cases (index cases) were also approached to participate in this survey and HIV testing was provided.

RESULTSA total of 342 HIV-infected individuals were newly reported and served as index cases from May to August, 2009. Among them, 47.1% (161/342) were transmitted by regular sexual partners. Through three-round surveys, 218 contacts were traced and among them, 84.9% (185/218) were traced by regular heterosexual partners. HIV positive rate of the tested was 34.7% (60/173) in the first-round tracing and 12.5% (1/8) in the second one. Among the 560 individuals (index cases and their high-risk contacts), the proportions of having regular heterosexual partners, non-regular and non-commercial sexual partners, commercial sexual heterosexual partners and men having sex men were 87.9% (492/560), 18.9% (106/560), 22.3% (125/560) and 0.3% (1/318), respectively, while the proportion of having never used condoms when having sex with the above four types sexual partners were 73.8% (363/492), 72.6% (77/106), 63.2% (79/125) and 0.0% (0/1), respectively.

CONCLUSIONAs an epidemiological method for HIV/AIDS finding, contact tracing identified a large number of HIV infectors who were traced by newly reported HIV-infected individuals.

Acquired Immunodeficiency Syndrome ; epidemiology ; Adolescent ; Adult ; Child ; Child, Preschool ; China ; epidemiology ; Contact Tracing ; methods ; Female ; HIV Infections ; epidemiology ; Humans ; Infant ; Infant, Newborn ; Male ; Risk Factors ; Surveys and Questionnaires ; Young Adult

Acquired Immunodeficiency Syndrome ; epidemiology ; virology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; China ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Young Adult

Objective To investigate the distribution of alleles in 19 autosomal short tandem repeat (STR) loci in Jiangsu Han population.Methods Goldeneye20A kit was used to detect 9 025 samples.Genetic analysis was performed on typing data of 19 autosomal STR loci, and genetic distance with other 17 populations was analyzed.Results All the 19 autosomal STR loci were consistent with the Hardy-Weinberg equilibrium (P＞0.05), with the heterozygosity 0.616 1-0.916 3, probability of match 0.012 8-0.202 6, discrimination power 0.797 4-0.987 2, probability of paternity exclusion 0.310 8-0.828 8, and polymorphic information content 0.561 7-0.913 6.The cumulative discrimination power and cumulative probability of exclusion were 0.999 999 999 999 999 998 434 1 and 0.999 999 989, respectively.The Jiangsu Han population had close genetic distances with the Han population in Tianjin, Hunan and Jilin, and significant difference with Han population in Aletai region in Xinjiang (P＜0.05).Conclusion The STR allele polymorphism data and population genetic parameters of Jiangsu Han population can provide data support for the forensic application of these STR loci in Jiangsu Han population.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.