OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 (C?30)] mutations in Chinese population with sporadic non-syndromic hearing impairment. METHODS PCR reactions were performed with two pair of primers for the coding sequence of GJB6 gene and for the deletion of GJB6. PCR products bidirectional sequencing was subsequently applied in 214 patients with hearing loss and 86 normal controls. RESULTS A novel heterozygous mutation-233(C→A) was found, which results in amino acid change, A78D. This mutation wasn't detected in the control subjects. The altered valine residue lies within the second conserved transmembrane domain. The large deletion△(GJB6/ D13S1830)] of GJB6 was not found in this group. CONCLUSION The large deletion of GJB6 was not found in the Chinese deafness population. A novel heterozygous mutation of GJB6 was found. These results indicated GJB6 mutations are not a major cause of hearing loss in the Chinese population.

OBJECTIVETo assess the association of smoked meat intake, SULT1A1 polymorphism as well as their combined effects with breast cancer risk.

METHODSA total of 400 newly diagnosed breast cancer cases from a cancer hospital in Sichuan province and 400 healthy controls from participants of physical examination in a hospital in Chengdu city were recruited from May 2007 to July 2009. A valid questionnaire was designed to collect their demographic characteristics and breast cancer risk factors. Daily intake of foods was collected using semi-quantitative frequency questionnaire and then the daily intake of smoked meat was calculated and transformed to energy-adjusted smoked meat intake by the residual method. Gene sequencing was used to analyze SULT1A1 Arg213His genotypes. Multivariable conditional logistic regression was used to estimate adjusted odds ratios (ORs) and 95% confidence intervals (95%CIs).

RESULTSThe energy-adjusted daily intake of smoked meat (Median (P₂₅, P₇₅)) was 8.65 (3.63, 18.44) g/d in cases and 4.44 (0.19, 8.71) g/d in controls. The frequency of SULT1A1 variant allele was 14.75% (59/400) among cases and 12.75% (51/400) among controls. High energy-adjusted daily intake of smoked meat (≥ 4.44 g/d) was significantly associated with breast cancer risk among premenopausal (OR = 2.31, 95%CI: 1.46 - 3.66) and postmenopausal subjects (OR = 3.13, 95%CI: 1.89 - 5.17). High energy-adjusted daily intake of smoked meat combined with carrying SULT1A1 variant allele elevated breast cancer risk among premenopausal (OR = 3.31, 95%CI: 1.66 - 6.62) and postmenopausal subjects (OR = 3.81, 95%CI: 1.79 - 8.10).

CONCLUSIONHigh smoked meat intake contributes to high risk of breast cancer. SULT1A1 variant allele increases breast cancer risk among subjects who were exposed to high smoked meat intake.

Adult ; Arylsulfotransferase ; genetics ; Breast Neoplasms ; etiology ; genetics ; Case-Control Studies ; Cooking ; Diet ; Female ; Genotype ; Humans ; Meat ; adverse effects ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk Factors

To prepare Zhitong micro-emulsion in this study, with the empirical formula of Zhitong preparation as the model medicine, the essential oil in the formula as the oil phase, and the water decoction as the water phase. The types of surfactant and co-surfactant were investigated. The changes in micro-emulsion conductivity and construction, the water percentage in the micro-emulsion system, the changing curve of conductivity and the fine pseudo-ternary phase diagram of micro-emulsion were drawn to determine the surfactant-co-surfactant mass ratio (K(m)). Subsequently, the D-mixture design was used to optimize Zhitong Micro-emulsion formula, with particle size and surface tension of micro-emulsion as the indexes. Finally, efforts were made to determine part of physical parameters of Zhitong micro-emulsion and preliminarily detect its stability. The results showed that the micro-emulsion was optimal with the EL-35-tween 20 ratio of 4:1 in surfactant, whereas the absolute ethyl alcohol was recommended as the co-surfactant. The ratio between surfactant and co-surfactant (K(m)) was 1.5. The finalized micro-emulsion formula contains 12% surfactant, 8% co-surfactant, 70% 1 g x mL(-1) water decoction and 8% oil. The results of the preliminary stability experiment showed a better stability of Zhitong micro-emulsion.
Chemistry, Pharmaceutical ; methods ; Drugs, Chinese Herbal ; chemistry ; Emulsions ; Surface-Active Agents ; chemistry ; Temperature

BACKGROUNDOur previous studies have indicated that the beneficial effects of grafting neural stem cells (NSCs) overexpressing glial cell line-derived neurotrophic factor (GDNF) in rats after stroke. However, the underlying mechanisms are highly debatable. In this study, we investigated whether neurogenesis, Akt, and extracellular signal-regulated kinase 1/2 (Erk1/2) signaling were involved in this process.

METHODSTransient ischemic stroke were induced by occluding middle cerebral artery for 2 hours and reperfusion. At 3 days after reperfusion, GDNF/NSCs, NSCs, and vehicle were administered. Immunohistochemical staining was used to evaluate neurogenesis by nestin antibody; phosphorylation of Akt and Erk1/2 was investigated by Western blotting analysis.

RESULTSTransplantation of GDNF/NSCs and NSCs significantly increased nestin-positive cells compared to control group (vehicle) from 1 to 7 weeks after reperfusion, and GDNF/NSCs showed stronger effect than NSCs at 2 and 3 weeks after reperfusion. Meanwhile, enhanced phosphorylation level of Erk1/2 was observed in the GDNF/NSCs and NSCs groups compared with control group, and phosphorylation level of Erk1/2 in GDNF/NSCs group was remarkably higher than that of NSCs group at any given time. In contrast, expression of mitogen-activated protein kinase phosphatase-1 (MKP-1), known as inhibitor of Erk1/2 signaling, was significantly decreased in the GDNF/NSCs and NSCs groups compared with the control group. Moreover, much enhanced and prolonged phosphorylation level of Akt of GDNF/NSCs group was detected compared with control and NSCs group.

CONCLUSIONGrafting GDNF/NSCs enhances neurogenesis and activates Akt and Erk1/2 signaling, that may provide the potential for GDNF/NSCs in stroke treatment.

Animals ; Glial Cell Line-Derived Neurotrophic Factor ; metabolism ; Male ; Mitogen-Activated Protein Kinase 1 ; metabolism ; Mitogen-Activated Protein Kinase 3 ; metabolism ; Neural Stem Cells ; cytology ; metabolism ; Neurogenesis ; physiology ; Phosphorylation ; Proto-Oncogene Proteins c-akt ; metabolism ; Rats ; Rats, Sprague-Dawley ; Stem Cell Transplantation ; Stroke ; metabolism ; therapy

OBJECTIVESTo investigate the prevalence of celiac disease in children with chronic diarrhea in China.

METHODSInpatients of the pediatric hospitals in Shanghai, Jinan, Wuhan and Chengdu who were diagnosed as chronic diarrhea were recruited from Jan. 2005 to Dec. 2008. Their clinical history, physical examination and laboratory data were collected. The SPSS version 11.5 statistical package for Microsoft Windows was used for statistical analysis.

RESULTSData of 199 patients and finally enrolled 118 hospitalized chronic diarrhea inpatients during the observation period were collected and 14 (12%) of the chronic diarrhea patients were suspected as having celiac disease and in one the diagnosis of celiac disease was confirmed. Gluten-free diet (GFD) treatment was effective. M/F: 12/2, the age ranged from 6 months to 12 years; 43% (6/14) had malnutrition, 29% (4/14) had anemia, villous atrophy was found in 4 patients by endoscopy. Duodenal biopsies revealed stage I in 1, stage II in 2, stage IIIa in 7, stage IIIb in 3 and stage IIIc in 1 patient according to the modified Marsh classification.

CONCLUSIONThis study was the first time to report the research of celiac disease in children with chronic diarrhea in China. The percentage of suspicious celiac disease patients was 12% (14/118) in children and one was confirmed. CD exists in China. Chinese pediatricians should pay attention to the disease.

Adolescent ; Celiac Disease ; epidemiology ; pathology ; Child ; China ; epidemiology ; Diarrhea ; epidemiology ; pathology ; Duodenum ; pathology ; Endoscopy, Digestive System ; Female ; Humans ; Infant ; Intestinal Mucosa ; pathology ; Male ; Prevalence

BACKGROUNDPatient characteristics may be an internal factor influencing patient complaints, but in China patient characterization is restricted to patient satisfaction surveys, and few studies have considered the relationship between patient characteristics and patient complaints. The aim of this research was to determine the reasons for complaints.

METHODSIn this study, we analyzed the characteristics of hospitalized patients and explored their relationship with medical complaints.

RESULTSThe significant factors were age (P = 0.045), hospital cost (P = 0.003), household nature (P < 0.001), and education (P < 0.001). The complaint rate decreased when the patients' age increased (regression coefficient, -0.606; OR, 0.545, and 95%CI, 0.301 - 0.987). The complaint rate increased with an increase in hospital cost (regression coefficient, 0.818; OR, 2.266; and 95%CI, 1.320 - 3.889). Patients from non-agricultural households had a higher complaint rate (regression coefficient, 1.051; OR, 2.861; and 95%CI, 1.611 - 5.082). Patients with higher education levels had lower complaint rates (regression coefficient, -0.944; OR, 0.389; and 95%CI, 0.234 - 0.647).

CONCLUSIONThe survey confirms that older patients and patients with higher education levels had lower complaint rates, while non-agricultural population and patients with higher hospital expenses had higher complaint rates.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; China ; Data Collection ; Female ; Hospitals ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Patient Satisfaction ; statistics & numerical data ; Young Adult

OBJECTIVETo establish a database and to understand the molecular epidemiological features of non-O157 Shiga toxin-producing Escherichia coli (STEC) isolates from different animal reservoirs and patients.

METHODSPulsed-field gel electrophoresis (PFGE) was performed according to the PulseNet protocol with minor modifications. A dendrogram was constructed using the BioNumerics.

RESULTSUnder the PulseNet protocol, 62 PFGE patterns were obtained from 76 non-O157 STEC isolates and then divided into A to M groups. Isolates from different sources were widely distributed in different groups, but were predominant seen in certain groups.

CONCLUSIONThe non-O157 STEC isolates in China were highly polymorphic. PulseNet protocol seemed to be suitable for the typing of Chinese non-O157 STEC isolates.

Animals ; China ; epidemiology ; DNA, Bacterial ; Electrophoresis, Gel, Pulsed-Field ; Escherichia coli Infections ; epidemiology ; microbiology ; Escherichia coli O157 ; genetics ; isolation & purification ; Feces ; microbiology ; Genotype ; Humans ; Shiga-Toxigenic Escherichia coli

OBJECTIVETo study the genetic aberrations of ocular extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue (MALT) type occurring in patients from southern China.

METHODSFifty seven paraffin-embedded ocular MALT lymphoma specimens from patients in southern China were studied by interphase fluorescence-in-situ hybridization (FISH) for genetic aberrations including t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/IgH-bcl-10, t(14;18) (q32;q21)/IgH-MALT1 and bcl-6/FOXP1 gene translocations.

RESULTSAmongst the 57 cases studied, 9 cases (15.8%) showed chromosome translocations, including 4 cases (7.0%) of t(11;18)(q21;q21)/API2-MALT1, 1 case (1.8%) of t(14;18) (q32;q21)/IgH-MALT1, 1 case (1.8%) of bcl-6 gene-related chromosome translocation and 3 cases (5.3%) of IgH-unknown translocation partner. FISH revealed 17 cases (29.8%) with 3 copies of bcl-6 gene, 21 cases (36.8%) with 3 copies of MALT1 gene and 12 cases (21.1%) with 3 copies of both genes.

CONCLUSIONSThe MALT lymphoma-associated chromosome translocations t(11;18)(q21;q21)/API2-MALT1 and t(14;18) (q32;q21)/IgH-MALT1 are demonstrated in ocular MALT lymphomas of southern Chinese patients. The prevalence is significantly different from that reported in northern Chinese and northern American patients, indicating a geographic heterogeneity in the MALT lymphoma-associated genetic aberrations. The presence of 3 copies of bcl-6 and MALT1 genes is the commonest genetic abnormalities observed in ocular MALT lymphomas, suggesting a possible role in MALT lymphomagenesis.

Caspases ; genetics ; metabolism ; China ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; DNA-Binding Proteins ; genetics ; metabolism ; Eye Neoplasms ; genetics ; metabolism ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell, Marginal Zone ; genetics ; metabolism ; Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein ; Neoplasm Proteins ; genetics ; metabolism ; Proto-Oncogene Proteins c-bcl-6 ; Translocation, Genetic ; Trisomy

BACKGROUNDThere are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.

METHODSTo decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years.

RESULTSWe identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.

CONCLUSIONSWe identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

Adult ; Aged ; Asian Continental Ancestry Group ; Connexins ; genetics ; Exome ; genetics ; Female ; Genetic Linkage ; genetics ; Haplotypes ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Young Adult ; Zonula Occludens-2 Protein ; genetics

Objective To study the clinical significance of the method of three perpendicular planes plus special planes in diagnosing fetal cleft lip /palate by prenatal ultrasound .Methods The approach of three perpendicular planes and special planes were used in diagnosing 110 cases of cleft lip/palate.The sonogram features in each section were analyzed and the outcomes were recorded during follow-up.Results On prenatal ultrsound ,110 cases were examined with three perpendicular planes method .The coronary section could be displayed at 100%cases (110 cases), sagittal section 76.4%cases (84 cases),transverse section 96.4%cases (106 cases) and parasagittal section 25.5%cases (28 cases).With special planes method,74 cases were examined .The section through pyriform aperture could be displayed in 47 cases,in 45 cases on the section through the lower lip/lower jaw/submandibular triangle ,and in 16 cases on the section through the cheek.Combining the three perpendicular planes and special planes methods ,94.5%(104/110) cases could be diagnosed definitely.Six cases (5.5%,6/110) were missed because of fetal position or oligoamnios . Conclusions The method of three perpendicular planes plus special planes is effective in prenatal ultrasound diagnosing cleft lip/palate,which is of great help in improving prenatal diagnostic accuracy of fetal cleft lip/palate.