[The application of neuroimaging reconstruction technique in evaluating the relationship between skeletal musculature tumors and nerves nearby].

Objective: To analyze the relationship between tumors of the musculoskeletal system and adjacent nerves by reconstructing images of peripheral nerves, and explore its value in surgical treatment. Methods: From May 2016 to April 2019, a total of 27 patients were collected in Department of Imaging,Shougang Hospital, who were with skeletal muscle system tumors, including 15 primary soft tissue tumors, 9 primary bone tumors, 3 metastatic tumors, all of them were closely related to nerves. There were 17 males and 10 females, aged 13-67 years, with an average age of 34 years. Before the operation, CT volume scanning was performed, and curved planar reconstruction (CPR) was used to reconstruct the peripheral nerves. All patients were operated within 2 weeks after the examination. According to the image characteristics before the operation, the nerve invasion was judged. The sensitivity, characteristic, positive predictive value and negative predictive value of the tumor invasion (compression) nerve were calculated according to the intraoperative findings as the gold standard. Result: Of the 27 cases, 25 cases (25/27, 92.6%) could show the relationship between the tumors and the adjacent nerves at the same level, and 22 cases (22/25, 88.0%) had the same preoperative image judgments as the intraoperative findings. In the reconstructed images, the peripheral nerve was a continuous strip-like structure on the same level with the tumor. The invaded nerve became thicker and the edge was blurred. Enhanced scan showed enhancement. The sensitivity, specificity, positive predictive value and negative predictive value of neuroimaging reconstruction were 100.0%, 89.5%, 75.0% and 100.0% respectively. The sensitivity, specificity, positive predictive value and negative predictive value of the nerve compression were 92.3%, 100.0%, 100.0% and 80.0% respectively. Conclusions: Neurological reconstructed images can help clinicians evaluate the relationship between lesions and adjacent nerves quickly and intuitively. They can guide the selection of surgical methods, reduce the risk of intraoperative nerve injury, and have high sensitivity and specificity for nerves invasion.

Operation of astigmatic-detection atomic force microscopy in liquid environments.

The astigmatic detection system (ADS) based on commercial optical pickup head was demonstrated to achieve a sub-nanometer sensitivity in detecting the vertical movement of an object surface in air. The detection laser spot of the ADS was sub-µm and the detection bandwidth was over 80 MHz. These advantages allow detection of high-frequency mechanical resonance of very small objects, which would have many important applications in nanotechnology. In this work, we optimized the operation conditions of ADS to achieve good sensitivity in aqueous solutions. We demonstrated good contrast and good spatial resolution of cancer cells in water with the optical profilometry mode. We also built an ADS-AFM (atomic force microscopy) for imaging in water. A novel cantilever holder was designed, and the spurious peaks were suppressed down to 26.0% of the real resonance peak. Most importantly, we demonstrated that the ADS-AFM could resolve single atomic steps on a graphite substrate and image soft DNA molecules on mica in water.

Genome-wide association study of bipolar I disorder in the Han Chinese population.

We report the first genome-wide association study in 1000 bipolar I patients and 1000 controls, with a replication of the top hits in another 409 cases and 1000 controls in the Han Chinese population. Four regions with most strongly associated single-nucleotide polymorphisms (SNPs) were detected, of which three were not found in previous GWA studies in the Caucasian populations. Among them, SNPs close to specificity protein 8 (SP8) and ST8 α-N-acetyl- neuraminide α-2,8-sialyltransferase (ST8SIA2) are associated with Bipolar I, with P-values of 4.87 × 10(-7) (rs2709736) and 6.05 × 10(-6) (rs8040009), respectively. We have also identified SNPs in potassium channel tetramerization domain containing 12 gene (KCTD12) (rs2073831, P=9.74 × 10(-6)) and in CACNB2 (Calcium channel, voltage-dependent, ß-2 subunit) gene (rs11013860, P=5.15 × 10(-5)), One SNP nearby the rs1938526 SNP of ANK3 gene and another SNP nearby the SNP rs11720452 in chromosome 3 reported in previous GWA studies also showed suggestive association in this study (P=6.55 × 10(-5) and P=1.48 × 10(-5), respectively). This may suggest that there are common and population-specific susceptibility genes for bipolar I disorder.

Impaired skin wound healing in lumican-null mice.

BACKGROUND: Previous studies have demonstrated that the lack of lumican delayed corneal wound healing in lumican-null (Lum(-/-) ) mice. This defect is rescued by the addition of glycosylated lumican core protein to the injured corneas. OBJECTIVES: We examined the hypothesis that lumican is also required for the healing of cutaneous wounds using Lum(-/-) mice. METHODS: We demonstrated the basic thinner skin phenotypes in Lum(-/-) mice at different time points and the changes in arrangement of collagen fibres by transmission electron microscopy (TEM). A full skin thickness wound was generated by punch biopsy (6 mm diameter) in experimental Lum(-/-) and wild-type mice. The closure of injured skin was measured after various periods of time (3, 6, 12, 18 days). Specimens of injured and uninjured skin (serving as control) were then subjected to morphological examination with haematoxylin and eosin and Masson trichrome stains, and by TEM. Immunohistochemical staining with anti-CD68 antibody was used to assess the presence of macrophages in injured skin healing for various periods of time. Semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) was used to elucidate the transforming growth factor (TGF)-ß1-induced myofibroblast phenotypic genes. RESULTS: Skin of adult Lum(-/-) mice (3 months and older) was much thinner (40% less) than that of age-matched wild-type mice. This phenomenon was aggravated in older mice. TEM revealed disoriented and irregular collagen fibrils in the dermis of Lum(-/-) mice. Delayed wound healing with an increase in inflammatory macrophages was compatible with the delayed response of the expression of TGF-ß1, type I collagen α1 and fibronectin at the mRNA level by semiquantitative RT-PCR in the Lum(-/-) mice. CONCLUSIONS: Our data demonstrate that lumican plays pivotal roles in skin collagen fibrillogenesis and wound healing.

Type 2 diabetes prevalence and incidence among adults in Taiwan during 1999-2004: a national health insurance data set study.

AIM: To evaluate annual prevalence and incidence of Type 2 diabetes and to examine possible trends among adults in Taiwan. METHODS: A retrospective nationwide longitudinal study using the Taiwan National Health Insurance Research Database collected during 1999-2004. Adult patients aged > or = 20 years old with prevalent and incident Type 2 diabetes were identified using ICD-9-CM diagnostic codes. Age-specific and age-direct-standardized annual incidence and prevalence were calculated to describe their trends in different gender and age group and compared using Poisson regression. RESULTS: During the study years, the age-standardized prevalence of Type 2 diabetes increased from 4.7 to 6.5% for men and from 5.3 to 6.6% for women. The increasing trends in prevalence were significant and higher among people aged < 40 and > or = 80 years. The age-standardized incidence rates of Type 2 diabetes per 1000 person-years were approximately 7.6 and remain stable for men, but decreasing from 7.7 to 6.9 for women. However, the incidence increased significantly in younger adults aged < 40 years whose relative incidence (RI with 95% confidence interval) was 1.31 (1.20-1.42) for men and 1.04 (1.01-1.08) for women. The incidence trends for people aged > or = 40 years were decreased for men and women. The differences in incidence trends between age groups and between genders were all statistically significant (all P < 0.001). CONCLUSIONS: This study demonstrated a substantial increasing trend in Type 2 diabetes prevalence during 1999-2004 among adults in Taiwan. Despite the incidence decreased in older people, young men aged 20-40 years were most susceptible to higher incidence of Type 2 diabetes.

Pathology and viral distributions of the porcinophilic foot-and-mouth disease virus strain (O/Taiwan/97) in experimentally infected pigs.

Twenty-four specific pathogen free pigs were inoculated intradermally at the front-right heel bulb with 0.5 ml of viral suspension containing 10(6.0)tissue culture infectious dose (TCID(50)) with the porcinophillic strain (O/Taiwan/97) of foot-and-mouth disease virus (FMDV) isolated from the epizootic of FMD in Taiwan in 1997. Two pigs were euthanatized at 8 h, 1, 2, 3, 6, 8, 12, 15, 21, 26 and 63 days post-inoculation (DPI), and two pigs remained for long-term observation and terminated at 400 DPI. Typical symptoms of depression and inappetence appeared in the inoculated pigs at 1 DPI and subsided by 7 DPI. Vesicles developed in the epidermis over non-inoculated metacarpals joints at 1 DPI and vesicles in the mouth and on the snout were noticed at 2 DPI. Lesions in the feet were characterized by necrosis in the stratum spinosum, intercellular oedema, and vesicle formation accompanied by neutrophilic and mononuclear cells infiltration. Baby hamster kidney-21 cell cultures were used for virus isolation and viraemia was detected beginning at 1 DPI and persisted till 3 DPI and was no longer detectable when neutralizing antibody (NA) developed at 4 DPI. However, virus was isolated from skin samples from 1 to 12 DPI, from faeces from 2 to 8 DPI, and from 95% oesophageal-pharyngeal (OP) fluid samples at 8 HPI. Among the samples tested in this study, skin vesicles had the highest virus titre, 10(8.63) TCID(50). No virus was isolated from the skin or visceral organs obtained from post-mortem at day 15 after infection and the virus was not detectable from the OP fluid from 12 DPI till the end of this study (400 DPI). By using reverse transcriptase-polymerase chain reaction, viral RNA was detected first from the tissues at the inoculation site at 1 DPI, and still detectable at 21 DPI. Neutralizing antibody emerged at 4 DPI and the geometric mean NA titre reached to 1:861 and 1:1097 at 21 and 301 DPI respectively. The re-growth of hoof began at 21 DPI; however, minimal lesions including remnants of the old hoof were still presented at the end of this study. These results suggest that monitoring pig's hooves for residual lesions should be part of the FMD diagnosis.

Serine-385 phosphorylation of inwardly rectifying K+ channel subunit (Kir6.2) by AMP-dependent protein kinase plays a key role in rosiglitazone-induced closure of the K(ATP) channel and insulin secretion in rats.

AIMS/HYPOTHESIS: Rosiglitazone, an insulin sensitiser, not only improves insulin sensitivity but also enhances insulin secretory capacity by ameliorating gluco- and lipotoxicity in beta cells. Rosiglitazone can stimulate insulin secretion at basal and high glucose levels via a phosphatidylinositol 3-kinase (PI3K)-dependent pathway. We hypothesised that regulation of phosphorylation of the ATP-sensitive potassium (K(ATP)) channel might serve as a key step in the regulation of insulin secretion. METHODS: Insulin secretory responses were studied in an isolated pancreas perfusion system, cultured rat islets and MIN6 and RINm5F beta cells. Signal transduction pathways downstream of PI3K were explored to link rosiglitazone to K(ATP) channel conductance with patch clamp techniques and insulin secretion measured by ELISA. RESULTS: Rosiglitazone stimulated AMP-activated protein kinase (AMPK) activity and induced inhibition of the K(ATP) channel conductance in islet beta cells; both effects were blocked by the PI3K inhibitor LY294002. Following stimulation of AMPK by 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR), a pharmacological activator, both AICAR-stimulated insulin secretion and inhibition of K(ATP) channel conductance were unaffected by LY294002, indicating that AMPK activation occurs at a site downstream of PI3K activity. The serine residue at amino acid position 385 of Kir6.2 was found to be the substrate phosphorylation site of AMPK when activated by rosiglitazone or AICAR. CONCLUSIONS/INTERPRETATION: Our data indicate that PI3K-dependent activation of AMPK is required for rosiglitazone-stimulated insulin secretion in pancreatic beta cells. Phosphorylation of the Ser(385) residue of the Kir6.2 subunit of the K(ATP) channel by AMPK may play a role in insulin secretion.

Programmed cell death induced by Japanese encephalitis virus YL vaccine strain or its recombinant envelope protein in varied cultured cells.

OBJECTIVE: The Japanese encephalitis virus YL vaccine strain (JEV-YL) was investigated as regards its organ tropism and the role of recombinant envelope glycoprotein in the induction of apoptosis was explored. METHODS: Threevaried cell lines (HepG2, Vero and C6) were infected with JEV-YL or transfected with eukaryotic expression plasmids (pcE, pcF1R2, pcF1R1 and pcF2R2) which contain different parts of the envelope gene and phenotypic properties were examined by flow cytometry and DNA fragmentation analysis. RESULTS: After JEV-YL infection, smaller plaque was produced on HepG2 cells than on Vero cells, whereas no cytopathic effect was observed on C6 cells; moreover, by apoptosis and DNA fragmentation assays, the hallmark cytopathic effects were detected in HepG2 and Vero cells but not in C6 cells. Furthermore, cells used in our study transfected with recombinant core plasmid, pcE, which include full-length E gene but the deleted forms (pcF1R2, pcF1R1 and pcF2R2) did not have similar results as JEV-YLs. CONCLUSIONS: The JEV-YL vaccine strain had changed cell tropism to liver cells different from other virulent strains which have neural tropism, and in this study we proved that the transient-expressed entire E protein of JEV-YL could induce apoptosis and the mutations of E protein may change the organ tropism of JEV-YL.

Numerical investigation of airflow pattern and particulate matter transport in naturally ventilated multi-room buildings.

UNLABELLED: This study reports on a numerical investigation of transport behavior of indoor airflow and size-dependent particulate matter (PM) in multi-room buildings. An indoor size-dependent PM transport approach, combining the Eulerian large-eddy simulation of turbulent flow with the Lagrangian particle trajectory tracking, was developed to investigate indoor airflow pattern and PM1/PM2.5/PM10 removal efficiency in naturally ventilated multi-room buildings. A displacement ventilation with a measured indoor PM10 profile in Taipei Metropolis as the initial condition was carried out to characterize spatial and temporal variations of indoor PM1/PM2.5/PM10 removal behavior. The effects of indoor airflow pattern on particle transport mechanisms, e.g., deposition, suspension, migration and escape, were analyzed. Two comparison scenarios, which considered the effects of no indoor partition and different air change rate, respectively, were also conducted. In comparison with the effectiveness of PM1/PM2.5/PM10 removal, the simulated results showed that coarse particles were easier to be removed out of the building than fine particles. Natural ventilation was not an effective way to remove fine particles such as PM1 and PM2.5 in a multi-room building. Indoor partitions can impede 12% of the mean streamwise velocities and significantly increase 30-50% turbulence intensities. However, indoor partitions increased particle deposition and decreased particle escape. As a result of the two opposite particle removal mechanisms, i.e., deposition and escape, the impact of indoor partitions on PM1/PM2.5/PM10 removal behavior was not as significant as the results of airflow velocities. PRACTICAL IMPLICATIONS: This work developed a computational fluid dynamics technique to investigate indoor airflow patterns and PM1/PM2.5/PM10 removal ability in ventilated multi-room buildings. The results of this paper can help to identify adequate PM1/PM2.5/PM10 cleaning procedure and provide useful size-dependent PM control strategy in multi-room buildings.

An integrated inundation model for highly developed urban areas.

A numerical model is developed in this study with various components for simulating the complex flow phenomena in urban drainage basins. The model integrates the HEC-1 model, a 1-D dynamic channel-flow model, a 2-D non-inertia overland-flow model and the SWMM model to reflect the hydraulic processes in areas with different characteristics. The inundation of underground infrastructure during flood is also considered in the model. The typhoon Nari event in 2001, which resulted in severe flood in downtown Taipei, is simulated by the model. The result is compared with the survey records of flooded areas, which reveals the storage effect of underground infrastrucures is significant to the simulation results of highly developed urban areas.

Pet dogs owned by lupus patients are at a higher risk of developing lupus.

The aim of this study is to determine whether pet dogs owned by patients with systemic lupus erythematosus (SLE) are at a higher risk of developing SLE. Diagnosis of canine SLE was mainly based on the 11 diagnostic criteria for human SLE and two marked immunological features of canine SLE. Among 59 pet dogs owned by 37 SLE patients, 11 (18.64%) were ANA positive, and three (5.08%) had SLE. In contrast, of 187 pet dogs owned by non-SLE households, nine (4.81%) were ANA positive, and none (0%) had SLE. Among 650 outpatient dogs registered in the veterinary hospital, 34 (5.23%) were ANA positive, and six (0.92%) had SLE. Frequency of ANA and SLE among pet dogs owned by SLE patients was significantly higher than in pet dogs owned by non-SLE households (P = 0.001 for ANA; P = 0.013 for SLE) and in outpatient dogs (P < 0.001 for ANA; P = 0.032 for SLE). With respect to canine SLE development, the relative risk or risk ratio (R) of human SLE contact varied from 5.5 (compared with outpatient dogs) to near the infinite (compared with dogs owned by non-SLE households). The prevalence of canine SLE among pet dogs of SLE patients was therefore estimated to be 508 per 10 000 [95% confidence interval (95% CI), 0-1068]. In conclusion, pet dogs with human SLE contact were at a higher risk of developing SLE. Our results indicate that a common environmental factor or zoonotic agent may be involved in the development of human and canine SLE.

Expression of recombinant envelope protein of Japanese encephalitis virus YL strain in Escherichia coli possesses hemagglutination activity.

The nucleotide sequence of glycoprotein E of YL vaccine strain was cloned, sequenced and expressed in E. coli. Phylogenetic analysis of envelope (E) amino acid sequences of 18 JEVs in GenBank showed that the vaccine strain YL closer to the virulent strain HVI which is a Taiwanese isolate. We found only two amino acid mutations (K-138 and G-389) of E protein might lead viral attenuation in YL. In this study, we used pRSET vector system to construct three recombinant plasmids (pRSET/F1R1, pRSET/F2R2 and pRSET/F1R2), which encoded and expressed different or overlapping amino acid region of E protein. The antigenicity and hemagglutination activity of these recombinant proteins were examined by western blotting and hemagglutination test, respectively. Our results demonstrated that the recombinant protein of pRSET/F1R2 possesses predominant antigenicity and hemagglutination activity.

Cloning and sequencing of complete cDNA of Japanese encephalitis virus YL strain in Taiwan.

We determined the complete nucleotide sequence of the YL strain of Japanese encephalitis virus and its amino acid sequence was deduced. Our results displayed that the genome of YL strain contained a single open reading frame of 10,296 nucleotides (nts) which was flanked by untranslated region (UTR) containing 95 bases at the 5'-end and 586 bases at the 3'-end, respectively. Comparison of sequences showed that the overall amino acid sequence and 3' UTR of YL were similar to those of the virulent strain JaGAr0l. However, some significant amino acid differences of viral envelope (E) protein were observed between YL and JaGAr01; the amino acid sequence of E protein in YL strain possessed RGG(387-389) tripeptide instead of RGD(387-389) in JaGAr01 and in other strains; and another amino acid is K(138) in YL, not E(138) found in others. These differences suggested that the YL strain impairs in viral attachment to the cell surface and loses neuroinvasiveness, and therefore this strain was used as a live attenuated vaccine.

Cloning and sequencing of full-length cDNA of classical swine fever virus LPC strain.

The cDNAs of classical swine fever virus (LPC vaccine strain) were cloned by transcriptase-polymerase chain reaction, and their nucleotide sequences were determined. In this work, we obtained the sequence information of the 786 bases of the 5'-terminal region, 6049 bases of the middle region, and 1648 bases of the 3'-terminal region. Taking our previous results and present data together, the entire genomic sequence of LPC strain was completed (12344 nucleotides in length). The genome of LPC has a large open reading frame that can encode a polypetide of 3897 amino acids, and are flanked by untranslated regions (UTR), 373 bases at the 5'-end and 278 bases at the 3'-end. Phylogenetic analysis based on genomic sequences of several viruses suggested that the LPC strain is closer to Chinese, Riems, HCLV, Alfort/187, Brescia, and Alfort strains in order. After further analysis, we found that an insertion of 13 nucleotides, TTT(C/T)CTTTTTTTT, in the 3'-UTR of LPC, Chinese, and HCLV strains. Immediately downstream to the 13 nucleotides, a unique sequence of LPC consisting of 28 thymidine was observed.

Rosiglitazone (BRL 49653) enhances insulin secretory response via phosphatidylinositol 3-kinase pathway.

To elucidate the direct effect of rosiglitazone (RSG), a new thiazolidinedione antihyperglycemic agent, on pancreatic insulin secretion, an in situ investigation by rat pancreatic perfusion was performed. At a basal glucose concentration of 6 mmol/l, RSG (0.045-4.5 micromol/l) stimulated insulin release in a dose-dependent manner. In addition, 4.5 micromol/l RSG potentiated the glucose (10 mmol/l)-induced insulin secretion. Both the first and second phases of glucose-induced insulin secretion were significantly enhanced by RSG, by 80.7 and 52.4%, respectively. The effects of RSG on insulin secretion were inhibited by a phosphatidylinositol 3-kinase (PI3K) inhibitor, LY294002. In contrast, the glucose-stimulated insulin secretion was not affected by LY294002. The potentiation effect of RSG on glucose-stimulated insulin secretion, in both the first and second phases, was significantly blocked by LY294002. These results suggest that RSG has a direct potentiation effect on insulin secretion in the presence of 10 mmol/l glucose, mediated through PI3K activity. The inability of LY294002 to inhibit glucose-induced insulin secretion suggests that different pathways are responsible for glucose and RSG signaling.

Hemophilic arthropathy: considerations in management.

The authors evaluate nonsurgical and surgical approaches to treating patients with hemophilic arthropathy and review the functional and economic limitations imposed on treating these patients. Indications for surgery are discussed and a case study that incorporates both conservative and surgical management options is presented. While the advent of factor replacement therapy has dramatically changed the course of treatment and prognosis for patients with hemophilia, the authors argue that the economic burden of treating these patients is still very high. The authors recommend that proper conservative and surgical management options for patients with hemophilia should be based upon a thorough understanding of the disease process.

Thyroidectomy or radioiodine? The value of ultrasonography and cytology in the assessment of nodular lesions in Graves' hyperthyroidism.

Although diffuse toxic goiter is a classical feature of Graves' disease (GD) nodular goiters are occasionally found in some patients. The aim of the present study was to investigate the ultrasonographic and corresponding cytological manifestations in GD patients with nodular lesions to decide on a therapeutic strategy. Twenty-seven consecutive GD patients with nodular goiter were included in this study (21 women and six men, mean age 41.2 years, range 22-77 years). All underwent thyroid ultrasonography and fine-needle aspiration cytology. Of the 27 patients eight underwent surgical intervention because papillary thyroid carcinoma or follicular neoplasm was diagnosed by cytology; five of these were shown to have papillary thyroid carcinomas. Ultrasonography revealed the malignant nodules to be hypoechogenic, heterogeneous, and with ill-defined margins in four of these five thyroid cancers, whereas the remaining sonogram showed a cystic change and cauliflower-like tumor formation with microcalcification. The volume and maximal diameter of cancerous nodules were significantly larger than those of benign nodules. In conclusion our results reveal that ultrasonography and fine-needle aspiration cytology are reliable and quick methods for diagnosing nodular goiters in GD patients. If thyroid neoplasms are found ablative therapy with thyroidectomy is indicated instead of radioactive iodine.

Growth enhancement of fowls by dietary administration of recombinant yeast cultures containing enriched growth hormone.

In present study the methylotrophic yeast, Pichia pastoris, was used to express a recombinant growth hormone (rGH) gene of swine. A synthetic secretion cassette was constructed using the promoter of the alcohol oxidase1 gene (AOX1), and a alpha-factor signal peptide. After electroporatic transformation and zeocin selection, several clones exhibited high levels of rGH protein expression constituting more than 20% of total yeast protein. Over 95% of rGH was shown to be export into the culture supernatant. Yeast transformant containing the highest recombinant growth hormone level (rGH yeast) and native GS115 Pichia pastoris (non-rGH yeast, as a control) were separately cultured, harvested and adsorbed by wheat bran. Yeast cultures of four dosages (0.05, 0.1, 0.2, and 0.4%) were mixed respectively with chick basal diet and fed to simulated country chickens for 9 weeks. The results showed that, when compared to control chicks, the percentage of body weight gain was improved significantly (P<0.05) in chicks fed with diets containing 0.1 or 0.2% rGH-rich yeast culture at brooding stage, and in chicks fed with 0.4% rGH-rich yeast culture at growing stage. The average weight gain in rGH yeast treated groups for the full-term (0 to 63d) and short term (43 to 63d) of growth were 10.6 and 9.4%, respectively, better than the non-rGH yeast control group. These experimental data suggest that the use of rGH-containing yeast as a supplement in fed provided an alternative approach for growth improvement in simulated country chickens.

Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene.

The glycine N-methyltransferase (GNMT) gene encodes a protein that not only acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine, but also participates in the detoxification pathway in liver cells. Previously, we reported that the expression level of GNMT was diminished in human hepatocellular carcinoma. In this study, the human GNMT gene was cloned and characterized. It contains six exons and spans about 10 kb. Instead of a TATA box, it has a transcriptional initiator located 801 bp upstream from the translation start codon. The gene was localized to chromosome 6p12 using fluorescence in situ hybridization. Northern blot analysis of 16 tissues from different human organs showed that GNMT was expressed only in liver, pancreas, and prostate.

Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population.

OBJECTIVE: Vitamin D and its receptor have been suggested to play a role in the pathogenesis of type 1 diabetes mellitus. We have therefore studied the influence of vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes, and rates of glutamic acid decarboxylase (GAD65) autoantibody and islet cell autoantibody (ICA512) positivity. SUBJECTS: AND MEASUREMENTS One hundred and fifty-seven type 1 diabetic patients and 248 unrelated normal controls were recruited for this study. Genomic DNA was extracted from peripheral blood leucocytes. All type 1 diabetic patients and controls were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), for three restriction sites in the VDR gene, BsmI, ApaI and TaqI. The chi2 test was used to compare the frequency of the VDR gene polymorphisms in patients and normal controls. The association of VDR gene polymorphisms in type 1 diabetes with the presence of GAD65 and ICA512 autoantibodies were also examined using the chi2 test. RESULTS: The allele frequency of the BsmI and ApaI polymorphisms, but not TaqI polymorphism, differed between patients and controls (BsmI P = 0.015; ApaI P = 0.018; TaqI P = 0.266). However, after correction for the three different polymorphisms tested, only the BsmI was significant (pc = 0.045). CONCLUSIONS: Vitamin D receptor gene polymorphisms were associated with type 1 diabetes in a Taiwanese population. However, functional studies are needed to establish the role of the vitamin D receptor in the pathogenesis of type 1 diabetes mellitus.