Dose-Response Relationship, Drug ; Enzymes ; adverse effects ; Humans ; Hypersensitivity ; Occupational Diseases ; chemically induced ; Occupational Exposure ; adverse effects

OBJECTIVEAt present, blood and skin biopsy tissues are used in the fluorescent in situ hybridization (FISH) test for the diagnosis of Down's syndrome, however, the samples are usually obtained invasively. This study explores the value of oral mucosa cast-off cells in the FISH test, as samples obtained non-invasively, for the diagnosis of this disorder.

METHODSPeripheral blood and oral mucosa cast-off cells were sampled for the FISH test in 16 children with suspected Down's syndrome between March 2010 and March 2011. Chromosomal karyotype analysis of peripheral blood lymphocytes ("gold standard" for the diagnosis of Down's syndrome) was also conducted.

RESULTSThe FISH test, in which both peripheral blood and oral mucosa cast-off cells were examined, showed that 14 children had 21-trosomy syndrome and the other 2 children had normal numbers of cromosome 21. The results of the FISH test were the same as the results of the chromosomal karyotype analysis.

CONCLUSIONSUse of the FISH method to test samples of oral musoca cast-off cells is non-invasive and reliable for the diagnosis of Down's syndrome in children, and is hence worthy of recommendation.

Down Syndrome ; diagnosis ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Infant ; Infant, Newborn ; Male ; Mouth Mucosa ; cytology

Objective To explore the clinical effect of complete transposition of arteriovenous in free flap artery crisis. Methods From October, 2009 to April, 2017, 13 cases of extremities tissue defect were repaired with free flaps.The intractable arterial crisis appeared after transplantation.Repeated anastomosis vessels were adapted but it was not relieved. Then the complete transposition of arteriovenous was adapted in the flaps. Namely the vein of the flap was anastomosed with the arterial in the recipient site to reconstruct the blood supply, and the arterial of the flap was anastomosed with the vein in the recipient site to reconstruct recirculation.Ten cases of hand defect and 3 cases of crus defect were repaired by 5 low abdominal flaps and 8 anterolateral thigh flaps. The tissue defect area was 16 cm× 7 cm-6 cm×4 cm and the flap area was 18 cm×8 cm-7 cm×4 cm. Results Ten flaps survived completely, the other 3 flaps almost survived that scab healed in 1 case and skin grafted in 2 cases. The flap for skin color was from purple red to dark red, and finally close to normal, and skin flap edge would have different degrees of ecchymosis; the bleed-ing from the incision of the skin flap was from dark red to bright red; the swelling of the flap was obvious in the early stage and the later swelling subsided. All cases were followed-up from 6 months to 32 months with an average of 16 months.The wounds healed well.The flaps had a clear boundary and soft texture. Conclusion Complete transposi-tion of the arteriovenous system can be used as an alternative in the presence of intractable arterial crisis after free flap transplantation, to save the flap and to reduce the trauma to the patient.

Alzheimer disease (AD) is one of the most common types of dementia.Serotonin (5-HT) plays an important role in the pathogenesis of AD,causing alterations in patients' cognitive abilities,as well as learning and memory capabilities,by regulating the cholinergic and glutamatergic neurotransmission through the signal transduction pathway.Patients suffer from emotional disorders including depression and apathy and clinical manifestations such as unrestrained diet,which are all related to the signaling function of 5-HT receptors.Strengthening the 5-HT receptor-mediated transduction pathway and increasing the concentration of synaptic 5-HT have been used as a novel therapy for delaying the progression of AD.This articles reviews the AD therapies targeting 5-HT transduction pathway.

OBJECTIVETo investigate the outcome of video-assisted thoracoscopic extended thymectomy (VATET) for myasthenia gravis.

METHODSFrom January 2005 to February 2006, VATET had been performed for 41 patients of myasthenia gravis. Among them, 23 patients were female and 18 were male. The age ranged from 18 to 67 years old, and the disease duration ranged from 1 month to 3 years. In order to achieve maximal benefit, a transverse cervical incision was given access to the peri-thyroid space to remove fat in the neck which may contain ectopic thymus after all thymic tissue, including far-reaching ectopic sites. Peri-thymic adipose tissue in the anterior mediastinum was completely removed.

RESULTSIn the 41 patients, mean operative time was 162 min. Sever patients sustained myasthenic crises that required reintubation and mechanical ventilation for a few days. Of all patients, 35 had lymphadenectasis, and 4 had ectopic thymus in the peri-thyroid space. After the 2 years' follow-up, the rate of complete stable remission was 41.4%, and the effective rate was 85.4%.

CONCLUSIONSVideo-assisted thoracoscopic thymectomy represents a safe and valid approach for patients with myasthenia gravis. VATET may be a complement to completely remove all thymus including ectopic tissues.

Adolescent ; Adult ; Aged ; Feasibility Studies ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Myasthenia Gravis ; surgery ; Thoracoscopy ; Thymectomy ; methods ; Treatment Outcome

OBJECTIVETo investigate the distribution of hepatitis B virus genotype in Hubei province (China) and its clinical significance.

METHODSSerum samples from 190 HBV DNA positive patients with chronic HBV infection,including 52 asymptomatic HBV carriers (ASC), 56 chronic hepatitis (CH), 32 fulminant hepatic failure (FHF), 22 liver cirrhosis (LC), and 28 hepatocellular carcinoma (HCC) patients were collected and tested for HBV genotypes by type-specific primers.

RESULTSA simple and precise genotyping system based on PCR using type-specific primers was developed for the determination of genotypes of hepatitis B virus (HBV). Of the 190 patients, 140 (73.7%) were genotype B and 42 (22.1%) were genotype C. Genotype B was more prevalent in the FHF and HCC patients than in the ASC patients; the ALT value was significantly higher in genotype B than in genotype C patients. The rate of anti-HBe was significantly higher in genotype B than in genotype C except in the patients of the ASC group.

CONCLUSIONThe system we used seems to be a useful tool for the molecular diagnosis of HBV infection and for large-scale surveys. Genotype B, genotype C and BC combination exist in Hubei province, and genotype B is the major genotype in this area especially in FHF and HCC patients.

Adult ; Carcinoma, Hepatocellular ; virology ; Carrier State ; virology ; China ; Female ; Genotype ; Hepatitis B virus ; genetics ; Hepatitis B, Chronic ; complications ; virology ; Humans ; Liver Cirrhosis ; virology ; Liver Failure, Acute ; virology ; Liver Neoplasms ; virology ; Male ; Middle Aged

OBJECTIVETo investigate the effect of apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3G (APOBEC3G) mediated antiviral activity against hepatitis B virus (HBV) and duck hepatitis B virus (DHBV).

METHODSTotal RNA was extracted from peripheral blood mononuclear cells (PBMCs), RT-PCR product was cloned into the EcoR I/Hind III restriction sites of the CMV-driven expression vector fused with a hemagglutinin fusion epitope tag at its carboxyl terminal. Replication competent 1.3 fold over-length HBV was constructed with full-length HBV of ayw subtype. The mammalian hepatoma cell HepG2 was cotransfected with the replication competent 1.3 fold over-length HBV and various amounts of CMV-driven expression vector encoding APOBEC3G-HA. Levels of HBsAg and HBeAg in the media of the transfected cells were determined by ELISA, HBV DNA. RNA from intracellular core particles was examined using Northern and Southern blot analyses. Chicken hepatoma cell LMH was cotransfected with head-to-tail dimer of an EcoR I monomer of DHBV and various amounts of CMV-driven expression vector encoding APOBEC3G-HA. DHBV DNA from intracellular core particles was examined using Southern blot analysis.

RESULTSCMV-driven expression vector encoding APOBEC3G-HA and replication competent 1.3 fold over-length HBV were constructed. There was a dose dependent decrease in the levels of intracellular core-associated viral (HBV and DHBV) DNA and extracellular production of HBsAg and HBeAg. Levels of intracellular core-associated viral RNA were also decreased, but the expression of HBcAg remained almost unchanged.

CONCLUSIONAPOBEC3G suppresses HBV and DHBV replication and also suppresses HBsAg and HBeAg expression.

APOBEC-3G Deaminase ; Cytidine Deaminase ; genetics ; Hep G2 Cells ; Hepatitis B Surface Antigens ; metabolism ; Hepatitis B Virus, Duck ; physiology ; Hepatitis B e Antigens ; metabolism ; Hepatitis B virus ; physiology ; Humans ; RNA, Messenger ; genetics ; Virus Replication

OBJECTIVETo assess the health effects of dusts in enzyme production plants.

METHODSThe concentration of enzyme-containing dusts, the enzyme and the wheat-containing dusts and their health effects on workers were investigated in three enzyme production plants. Air samples were collected by high volume sampler and personal sampler. Total dust was weighed and its content of enzyme was analyzed by enzyme activity method. Health effects were assessed by the questionnaire, the pulmonary function and the skin prick test.

RESULTSIt was found that the geometric mean of enzyme-containing dust was 8.91 mg/m(3), the industrial enzyme was 1.68 mg/m(3), and the wheat-containing dust was 6.93 mg/m(3). The enzyme-containing dust higher than 20 mg/m(3) caused eye symptoms. The wheat-containing dust at 6.93 mg/m(3) might result in skin and nose symptoms. The sensitization could be observed in enzyme and wheat exposed workers.

CONCLUSIONAdverse effects may arise for the health of the workers if the concentration of enzyme-containing dusts and the wheat-containing dusts is up to a certain limit and it is necessary to make the limit of these indexes.

Adolescent ; Adult ; Albumins ; adverse effects ; Dust ; analysis ; Enzymes ; analysis ; Female ; Health Surveys ; Humans ; Male ; Middle Aged ; Occupational Exposure ; Respiratory Function Tests ; Skin Tests ; Surveys and Questionnaires ; Triticum

OBJECTIVETo characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province.

METHODSMutations of the PAH gene were detected in exons 3, 5, 6, 7, 11 and 12 with flaking introns of PAH gene by PCR and DNA sequencing.

RESULTSMutations were identified in 45/58 alleles (detection rate: 96.4%), in total of 18 variants. Among them IVS12+5G>C was a novel mutation. The most frequent mutations were R243Q (22.7%), V399V (12.1%), EX6-96A>G (5.2%), R413P (5.2%) and IVS4-1G>A (5.2%), followed by Y356X (3.4%), R111X (3.4%) and INS7+2T>A (3.4%).

CONCLUSIONThe mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Gansu province were similar to that in other areas of China, with obvious difference in mutation rate of some mutations.

Adult ; Base Sequence ; China ; Exons ; Female ; Humans ; Infant ; Introns ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

BACKGROUNDElevated fibrinogen (Fg) level is a known risk factor for ischemic stroke. There are few clinical trials on oral fibrinogen-depleting therapies for secondary ischemic stroke prevention. We aimed to assess the effects of one-year therapy with oral lumbrokinase enteric-coated capsules on secondary ischemic stroke prevention.

METHODSThis is a multicenter, randomized, parallel group and controlled study that began treatment in hospitalized patients with ischemic stroke and continued for 12 months. Patients were randomized to either the control group that received the standard stroke treatment or the fibrinogen-depleting group that received the standard stroke treatment plus enteric-coated lumbrokinase capsules. The NIH Stroke Scale scores (NIHSSs) and plasma Fg level were recorded. The carotid artery intima-media thickness (IMT) and status of plaques were examined through carotid ultrasound examination. Primary outcomes included all-cause mortality, any event of recurrent ischemic stroke/transient ischemic attack (TIA), hemorrhagic stroke, myocardial infarction and angina, and other noncerebral ischemia or hemorrhage. Kaplan-Meier survival analysis and the Long-rank test were used to compare total vascular end point incidence between the two groups. Comparison of median values between two groups was done by the Student t test, one-way analysis of variance (ANOVA), or non-parametric rank sum test.

RESULTSA total of 310 patients were enrolled, 192 patients in the treatment group and 118 patients in the control group. Compared to the control group, the treatment group showed favorable outcomes in the Fg level, carotid IMT, the detection rate of vulnerable plaques, the volume of carotid plaques, NIHSS scores, and incidence of total vascular (6.78% and 2.08%, respectively) and cerebral vascular events (5.93% and 1.04%, respectively) (P < 0.05). In the treatment group, the volume of carotid plaques was significantly related to the carotid IMT, the plaque diameter, width and number (P = 0.000, 0.000, 0.000, 0.022; F = 13.51, 2.52, 11.33, -3.29, but there was a weak correlation with the Fg level (P = 0.056). After 1-year therapy, the incidence of overall vascular end points was reduced by 4.7%.

CONCLUSIONLong-term oral fibrinogen-depleting therapy may be beneficial for secondary ischemic stroke prevention.

Administration, Oral ; Aged ; Carotid Intima-Media Thickness ; Endopeptidases ; administration & dosage ; therapeutic use ; Female ; Fibrinogen ; metabolism ; Humans ; Male ; Middle Aged ; Secondary Prevention ; Stroke ; prevention & control