Abdomen/surgery* ; Humans ; Laparoscopy/methods* ; Pelvic Floor/surgery* ; Perineum/surgery* ; Proctectomy ; Rectal Neoplasms/surgery*

Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

A new production method of fracture fixation splint is introduced in the paper. The basic raw materials are multi-isocyanic acid, mixed with surfactants, catalysts, fillers, and so on. The splint, with light weight, high strength, and good injured anastomosis site, could be able to shape easily. It is dry and comfortable, avoiding a gas-tight uncomfortable feeling, easy to remove, remodel, nurse, clean and disinfect after fixed. Patients also could film review directly with fixed splint.
Equipment Design ; External Fixators ; Fracture Fixation

OBJECTIVETo explore the changes of serum sexual hormone levels in male hyperthyroidisms before and after treatment.

METHODSCompared with the control group, the serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) and estradiol (E2) of 68 cases of male hyperthyroidisms before and after treatment were detected by chemiluminescence immunoassay technique, and then statistical analysis was performed.

RESULTSThe serum T and E2 levels of male hyperthyroidisms were significantly higher than those of the control group before treatment (P < 0.005); while no significant difference in FSH and LH levels existed between the patients and the control group (P > 0.05). There was no difference in FSH, LH, T and E2 levels between patients and the control group after treatment (P > 0.05).

CONCLUSIONThere are sexual hormone metabolism disorder in hyperthyroidism men, and the increasing serum T and E2 levels are only to adapt the high metabolism environment, and the changes of hypothalamus-pituitary-gonadal axes. Along with the control of hyperthyroidism, the sexual hormone levels return to normal.

Adult ; Estradiol ; blood ; Follicle Stimulating Hormone ; blood ; Humans ; Hyperthyroidism ; blood ; therapy ; Luminescent Measurements ; Luteinizing Hormone ; blood ; Male ; Middle Aged ; Testosterone ; blood

Objective: The current study was designed to evaluate the clinical application of radioimmunoimaging(RII) for lymph node metastasis in esophageal carcinoma. Methods:1)131I was used to label McAb G9(specific to cellular membrane antigen of human esophageal carcinoma) and form labeling compound 131I-G9. Administration of 131I-G9 in esophagus submucosally with a specific injector for the purpose of submucosal injection via endoscopies in preoperative patients with squamous cell carcinoma of thoracic esophagus followed by RII. 2)The samples of dissected lymph node were used for detection of radioactivity. Results: 1)The pictures at 48 h showed that small radioactivity concentrated dots appeared dispersedly in mediastinum and upper abdomen around esophagus and cardiac gastric. The lymph nodes were considered metastatic in above regions. 2)The pathological results of the lymph nodes dissected compared to the RII result. The metastatic lymph nodes were found in the regions of dispersedly concentrated radioactivity, while no metastatic lymph nodes could be found in the radioactivity free regions. 3)After counting for radioactivity, lymph node metastases showed higher antibody uptake than the non-metastases lymph nodes. The difference was statistically significant. Conclusion: 131I-G9 may be used to locate metastatic lymph nodes in patients with esophageal carcinoma.

OBJECTIVES: In Fujian Province, China, gastric cancer is one of the leading causes of mortality among all malignant tumors. Nanjing county and Minqing county are located in inland Fujian and have similar general demographics. However, the adjusted mortality rate of gastric cancer in Minqing was found to be much higher than that in Nanjing. We sought to explore factors associated with this increased risk of gastric cancer between the two counties. METHODS: We recruited 231 and 224 residents from Nanjing and Minqing, respectively, and analyzed differences between their dietary habits, Helicobacter pylori infection rates, and concentrations of serum pepsinogen I, pepsinogen II, gastrin-17, and ratio of pepsinogen I:II. RESULTS: Subjects in Minqing had more first-degree relatives who had been diagnosed with upper gastrointestinal tumor, more unhealthy dietary habits, a higher Helicobacter pylori positive rate, and greater proportion of abnormal serum gastrin-17 than those in Nanjing did. CONCLUSIONS: The factors that differed between these two counties might indicate that residents in Minqing have a higher risk for developing gastric cancer than those in Nanjing do.
Adult ; Aged ; China/epidemiology ; Female ; Food Habits ; Gastrins/blood ; Helicobacter Infections/epidemiology/microbiology/pathology ; Helicobacter pylori ; Humans ; Male ; Middle Aged ; Pepsinogen A/blood ; Pepsinogen C/blood ; Risk Factors ; Stomach Neoplasms/*diagnosis

OBJECTIVES: In Fujian Province, China, gastric cancer is one of the leading causes of mortality among all malignant tumors. Nanjing county and Minqing county are located in inland Fujian and have similar general demographics. However, the adjusted mortality rate of gastric cancer in Minqing was found to be much higher than that in Nanjing. We sought to explore factors associated with this increased risk of gastric cancer between the two counties. METHODS: We recruited 231 and 224 residents from Nanjing and Minqing, respectively, and analyzed differences between their dietary habits, Helicobacter pylori infection rates, and concentrations of serum pepsinogen I, pepsinogen II, gastrin-17, and ratio of pepsinogen I:II. RESULTS: Subjects in Minqing had more first-degree relatives who had been diagnosed with upper gastrointestinal tumor, more unhealthy dietary habits, a higher Helicobacter pylori positive rate, and greater proportion of abnormal serum gastrin-17 than those in Nanjing did. CONCLUSIONS: The factors that differed between these two counties might indicate that residents in Minqing have a higher risk for developing gastric cancer than those in Nanjing do.
Adult ; Aged ; China/epidemiology ; Female ; Food Habits ; Gastrins/blood ; Helicobacter Infections/epidemiology/microbiology/pathology ; Helicobacter pylori ; Humans ; Male ; Middle Aged ; Pepsinogen A/blood ; Pepsinogen C/blood ; Risk Factors ; Stomach Neoplasms/*diagnosis

OBJECTIVEX linked spondyloepiphyseal dysplasia tarda (SEDL) is heritable osteochondrondysplasia characterized in affected males by disproportional short stature with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints. This progressive skeletal dysplasia is caused by the SEDL gene located approximately 100 kb centromeric of DXS16 at Xp22. The disorder usually manifests in late childhood without systemic complications, and generally female carriers of SEDL are asymptomatic. So the diagnosis of potential carriers and presymptomatic patients is almost impossible. This study aimed to establish methods of gene diagnosis for finding out potential carriers and presymptomatic patients.

METHODSThe blood samples were collected from 21 individuals in a large Chinese pedigree with SEDL. Microsatellite marker DXS16 was selected for linkage analysis. In order to confirm the allele of DXS16 linked to the pathogenic SEDL gene, polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) were used to examine the variability of the lengths of DXS16, and linkage analysis was performed for the diagnosis of potential carriers and presymptomatic patients. Then the pathogenic mutation of the SEDL gene in the family was identified by bi-directionally direct sequencing of PCR products amplified for each of the four coding exons as well as their exon/intron boundaries. The potential carriers and presymptomatic patients were also diagnosed in this way.

RESULTSSix young individuals (IV(14), IV(19), IV(21), IV(23), V(4), V(7))who wanted to know whether they were carriers or presymptomatic patients were diagnosed by linkage analysis. Four females of them (IV(14), IV(19), IV(21), V(7)) were determined being carriers because they carry the allele of DXS16 which links the pathogenic SEDL gene, and the other two (IV(23), V(4)) being normal individuals for their alleles of DXS16 linked with wild SEDL gene. DNA sequencing identified that the pathogenic mutation of SEDL gene in the family, which was a nucleotide substitution of the splice-acceptor site in intron 2, IVS2 -2 A-->C. This is a novel mutation in the SEDL gene. Four female individuals (IV(14), IV(19), IV(21), V(7)) carried the mutation; individuals IV(23) and V(4) carried the wild SEDL gene. The results of diagnosis of linkage analysis coincide completely with that of DNA sequencing.

CONCLUSIONLinkage analysis is a simple, rapid and inexpensive gene diagnosis method for SEDL and its accuracy was the same as DNA sequencing. Each of linkage analysis and DNA sequencing can be used to diagnose SEDL, which is very helpful for finding potential carriers and presymptomatic patients.

Base Sequence ; Carrier Proteins ; genetics ; Chromosome Mapping ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Membrane Transport Proteins ; Molecular Sequence Data ; Mutation ; Osteochondrodysplasias ; genetics ; Pedigree ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Transcription Factors

OBJECTIVETo identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.

METHODSIn two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation. Then the mutation was identified in other members of the family.

RESULTSA nucleotide substitution of the splice acceptor in SEDL intron 2, IVS2 -2A-->C,was detected in two affected individuals (IV(15) V(3)) in the Chinese family with SEDL, but no sequence change occurring on exons 3-6 was detected. The transversion was also identified in four heterozygous carriers. The mutation was not found in two unaffected male individuals and fifteen normal controls. Furthermore, four potential carriers were identified in the family.

CONCLUSIONThe mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the disease. Molecular diagnosis can be made by detecting the mutation.

Alternative Splicing ; genetics ; Base Sequence ; Carrier Proteins ; genetics ; China ; Chromosomes, Human, X ; genetics ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Linkage ; Humans ; Male ; Membrane Transport Proteins ; Mutation ; Osteochondrodysplasias ; genetics ; pathology ; Pedigree ; Transcription Factors

This study was aimed to investigate the expression difference of serum cytokines in 20 patients receiving HLA-identical nonmyeloablative allogeneic hematopoietic stem cell transplantation (iNAHSCT) and HLA-haploidentical nonmyeloablative allogeneic hematopoietic stem cell transplantation (hiNAHSCT). IL-2, IL-4, IL-6, IL-10, TNF-α, γ-IFN and IL-17 were detected by flow cytometric bead array before and on week 1, 2, 4 after transplantation respectively. The results showed that the IL-2 level was found to be up-regulated at week 1 and 2 after transplantation in iNAHSCT group and in hiNAHSCT group respectively, but there was no difference between these two groups (P > 0.05). The γ-IFN levels was up-regulated at week 4 after transplantation in above-mentioned two groups, but no difference was found between these two groups. The IL-4 level increased at week 2 and 1 after transplantation in iNAHSCT and hiNAHCT groups respectively, but the IL-4 level in iNAHSCT group was higher than that in hiNAHSCT group. The IL-6 level rose at week 1 and 2 after transplant in above mentioned groups respectively, and reached to peak level at week 4 after transplantation, but IL-6 level in hiNAHSCT was higher than that in iNAHSCT group (P < 0.02). The IL-10 level was up-regulated at week 1 and 2 in iNAHSCT and hiNAHSCT groups respectively, but the IL-10 level in iNAHSC was higher than that in hiNAHSCT group. The TNF-α level was up-regulated at week 1 in hiNAHSCT group, but at week 2 in iNAHSCT group after transplantation. The TNF-α level in hiNHASCT group was higher than that in iNAHSCT group (P < 0.01). The IL-17 level was up-regulated at week 1 and week 4 after transplantation in hiNAHSCT and iNAHSCT groups respectively, the IL-17 level in hiNAHSCT group was high as compared with that in iNAHSCT group. It is concluded that the serum cytokine levels are obviously up-regulated in iNAHSCT and hiNHASCT groups, and reach to peak level at week 4 after transplantation. The IL-6, TNF-α and IL-17 level up-regulated significantly in hiNAHSCT group, but the IL-4 and IL-10 level up-regulated significantly in iNAHSCT.
Adolescent ; Adult ; Child ; Cytokines ; blood ; Female ; HLA Antigens ; immunology ; Haplotypes ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Interleukin-10 ; blood ; Interleukin-17 ; blood ; Interleukin-4 ; blood ; Interleukin-6 ; blood ; Male ; Middle Aged ; Transplantation, Homologous ; Tumor Necrosis Factor-alpha ; blood ; Young Adult