OBJECTIVE To assess the association of single nucleotide polymorphisms (SNPs) of susceptibility genes of type 2 diabetes mellitus (T2DM) with liability to gout among ethnic Han Chinese males from coastal region of Shandong province. METHODS Seven SNPs within the susceptibility genes of T2DM, including rs10773971(G/C) and rs4766398(G/C) of WNT5B gene, rs10225163(G/C) of JAZF1 gene, rs2069590(T/A) of BDKRB2 gene, rs5745709(G/A) of HGF gene, rs1991914(C/A) of OTOP1 gene and rs2236479(G/A) of COL18A1 gene, were typed with a custom-made Illumina GoldenGate Genotyping assay in 480 male patients with gout and 480 male controls. Potential association was assessed with the chi-square test. RESULTS No significant difference was detected for the 7 selected SNPs in terms of genotypic and allelic frequencies (P > 0.05). When age and body mass index (BMI) were adjusted, the 7 genetic variants still showed no significant association with gout. CONCLUSION The genotypes of the 7 selected SNPs are not associated with gout in ethnic Han Chinese male patients from the coastal region of Shandong province. However, the results need to be replicated in larger sets of patients collected from other regions and populations.
Adult ; Aged ; China ; ethnology ; Diabetes Mellitus, Type 2 ; genetics ; Ethnic Groups ; Genetic Predisposition to Disease ; Gout ; genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

OBJECTIVETo assess the association of cytochrome P450 gene single nucleotide polymorphisms (SNPs) with susceptibility to gout in ethnic Han males from coastal regions of Shandong province.

METHODSFour hundred and eighty male patients with gout and 480 healthy male controls were included. Genotyping was carried out with a custom Illumina GoldenGate Genotyping assay to detect SNP rs2275620 of CYP2C8 gene, SNP rs2070676 of CYP2E1 gene, SNP rs837395 of CYP4B1 gene, and SNP rs194150 of TBXAS1 gene. The association was assessed with chi-square test.

RESULTSNo significant difference has been found between the two groups in regard to the genotypic and allelic frequencies of the TT, AT, AA genotypes and A, T alleles of the SNP rs2275620 of the CYP2C8 gene (P=0.88; P=0.97), the CC, CG, GG genotypes and C,G alleles of SNP rs2070676 of the CYP2E1 gene (P=0.24; P=0.09), the TT, AT, AA genotypes and A, T alleles of SNP rs837395 of the CYP4B1 (P=0.88; P=0.97), and TT, AT, AA genotypes and the A,T alleles of SNP rs194150 of TBXAS1 gene (P=0.15; P=0.06).

CONCLUSIONThis study has identified no association of SNP loci rs2275620(A/T) of CYP2C8, rs2070676(C/G) of CYP2E1, rs837395(A/T) of CYP4B1 and rs194150(A/T) of TBXAS1 with gout in ethnic Han males from coastal regions in Shandong province. However, our result needs to be replicated in larger sets of patients collected from other regions and populations.

Adult ; Aryl Hydrocarbon Hydroxylases ; genetics ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Cytochrome P-450 CYP2C8 ; genetics ; Cytochrome P-450 CYP2E1 ; genetics ; Disease Susceptibility ; Female ; Gout ; enzymology ; ethnology ; genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Thromboxane-A Synthase ; genetics

Objective To explore gene polymorphism of G/A genotype of Fok Ⅰ rs2228570 (G/A) of vitamin D receptor (VDR) gene in Han male population of Chinese coastal area,and thus to investigate the relationship between the gene polymorphism of VDR and gout.Methods Altogether 504 gout patients and 523 healthy controls were enrolled.The possible association between the polymorphism of VDR rs2228570 and gout in Chinese coastal area was investigated and genotype frequencies and allelic frequencies were calculated by realtime PCR with Taqman(R)probe method.Hardy-Weinberg was used to verify the representativeness of the sample.Comparison between the groups were performed withx2 test and t-test.Results The frequencies of GG,AG,and AA genotypes were 32.1％,50.0％,and 17.9％,respectively among gout patients,while they were 27.9％,50.5％,and 21.6％ respectively among the controls.There was no statistically significant difference in VDR rs2228570 genotype frequencies between gout patients and controls(x2 =3.366,P＞0.05).The allele frequencies of G and A in gout cases were different from those in the controls(57.1％,42.9％;53.2％,46.8％;x2 =3.300,P＞0.05).Conclusions Results of the present study suggest that the G/A genotype of VDR Fok Ⅰ rs2228570 of the VDR gene is not associated with gout in male population of Chinese coastal area.

Objective To analyze the clinical characteristics of familial and sporadic gout patients to provide information for the classification,individual treatment and prognosis of gout.Methods The clinical and biochemical characteristies of 431 patients with familial gout and 1899 patients with sporadic gout were compared and analyzed.T test and X2 test were used for statistical analysis.Results The age at onset [(47±13) years ] and the serum uric acid level [ (472±125) μmol/L] of the familial gout patients in the acute phase were significantly lower than those of the sporadic gout patients (P＜0.05).The percentage of patients whose attack were induced by purine-rich food (67.7％ vs 88.2％),drinking (31.3％ vs 44.5％) and the first metatarsophalangeal joint involvement (69.1％ vs 77.4％ ) were significantly lower in the familial gout patients than those in the sporadic group of patients.The percentage of female was lower in the familial gout (9.7％) than in the sporadic patients(6.6％,P＜0.05).The percentage of patients with ankle joint (18.1％ vs 11.3％) and no obvious predisposing causes (25.2％ vs 2.5％ ) were higher in the familial gout patients than in the sporadic patients (P＜0.05).The percentage of patients with complicated lipid metabolism disorders was significantly higher in the familial gout patients than in the sporadic patients (P＜0.05).Conclusion The familial gout patients in Shandong coastal regions are early in disease onset,with lower serum uric acid level and more frequent in women.Detailed family history should be collected,and early prevention and appropriate treatment should be emphasized.

Objective To discuss the diagnosis and surgical management of multilocular cystic renal cell carcinoma (MCRCC) and to evaluate the gene function of the mutation of von Hippel-Lindau (VHL) gene in MCRCC. Methods Seventeen MCRCC cases (11 men and 6 women) out of 512 cases of renal cell carcinoma from 2000 to 2010 were retrospectively analyzed. The mean age of the 17 patients was 46 years (37-61 years). Ultrasonography and CT were available in all 17 cases, and 1 case was misdiagnosed as parapelvic renal cyst. The mutation of VHL gene was detected by PCR in the specimens of can-cerous tissue and adjacent normal tissue from 11 cases of MCRCC. Results Three of 17 cases underwent nephron sparing surgery, the others underwent radical nephrectomy. One case underwent unroofing of parapelvic renal cyst, but the rapid frozen pathology of the cyst wall showed renal cell carcinoma of clear type. As a result, radical nephrectomy was eventually performed. All 17 cases were confirmed as MCRCC by eva-luating pathological characteristics, such as the cyst wall lined by single or several layers of clear tumor cells and the nuclei which were small and anachromasis. Clinical stages of all cases were T1N0M0, in which there were 14 cases with pathological T1G1 and 3 cases with pathological T1G2. All patients underwent a follow-up of 9 to 36 months (mean, 12 months) without recurrence or metastasis. Mutation of VHL gene was detected in 7 of 11 cases (64%), but all adjacent normal tissues were negative. Conclusions As a rare subtype of renal cell carcinoma, MCRCC is difficult to diagnose. CT is an essential measure in diagnosis of MCRCC preoperatively. Because of the good prognosis of reported cases, nephron sparing surgery for the treatment of MCRCC is recommended. VHL gene mutations may play an important role in the carcinogenesis of MCRCC.

Objective To investigate the clinical and neuroimage characteristics of reversible posterior leukoencephalopathy syndrome (RPLS) in Chinese elderly patients. Methods The characteristic clinical presentation and neuroimaging of 5 elderly patients with RPLS were retrospectively analyzed. Results There were one male and four females in this study, with the average age of (63.0±2.4) years, all combined with hypertension. The most common clinical presentations were abnormality of visual perception (5 cases), headache (4 cases), epileptic seizure (4 cases), disturbance of consciousness (3 cases), pathological reflex (2 cases) and hemiplegia (2 cases). CT scan showed 4 cases with low density lesions. MR1 scan showed 5 cases with occipital lobe lesions, 2 with parietal lobe lesions and 1 with temporal lobe lesions. Re-examination of CT scans showed that 4 survived patients became normal at mean (48.8±29.2) days after discharging from hospital. Conclusions The etiologies of RPLS are diverse. The vasogenic theory is supported by neuroimage of RPLS. Neuroimage may be very important for the diagnosis of RPLS. Diffusion-weighted imaging and apparent diffusion coefficient map may be helpful for differential diagnosis between RPLS and cerebral infarct.

Objective To explore the characteristics of prospective memory impairments in patients with Parkinson's disease (PD) at the early and middle stage. Methods Fifteen PD patients at the early and middle stage and 15 normal controls matched with age, sex, education and occupation were asked to complete event-based prospective memory (EBPM) and time-based prospective memory (TBPM) tasks. Results In the EBPM task (points), there was a significant difference between PD patients (3.93±2.69) and normal controls (6.00±2.17, t =-2.318,P <0.05). In the TBPM task(points), there was no significant difference between PD patients (3.47±1.96) and normal controls (3.80±1.70, t= -0.498, P >0.05). Conclusion The EBPM is impaired and the TBPM is relatively spared in early and middle stage PD patients.

BACKGROUND: Essential tremor is a kind of dyskinesia disease with a tendency to heredity. β-adnephrin receptor blocker is mainly used for treatment, but the dosage was great, patients could not persist in treatment. Hydrochloric-acid arotinolol, which characterizes by little side effect, is a β-receptor blocking agent combined with blocking effect of α receptor, and is an ideal drug to treat essential tremor in Japan.OBJECTIVE: To observe the reliability and curative effect of hydrochloric-acid arotinolol on essential tremor among Chinese people.DESIGN: Case analysis.SETTING: Neurological Departments of Beijing Hospital of Ministry of Public Health and General Hospital of Beijing Military Area Command of Chinese PLA.PARTICIPANTS: Totally 30 patients with essential tremor, 19 males and 11 females, aged from 21 to 74 years, with course of 1-40 years, average of (15.8±12.6) years, were selected from Neurological Departments of Beijing Hospital of Ministry of Public Health and General Hospital of Beijing Military Area Command of Chinese PLA from April 1999 to December 2000.METHODS: Tremor degree of upper limb, caput and lower limb, degree of dysfunction of hand, tremor degree of hand during writing and circling, and chief complaint of pain caused by tremor were scored before medication and 2, 4 and 6 weeks after medication. Scores were determined as 1 point, 2 points and 3 points according to mild, moderate and severe degree respectively. Evaluated criteria: ① Obviously effective: Differences were more than 7 points before and after treatment. ② Effective: Differences were 6.5-3 points before and after treatment. ③ A little effective: Differences were 3-1.5 points before and after treatment. ④ No changes: Differences were from 1 to -1 points before and after treatment. ⑤ Worse: Differences were less than -1.5 points before and after treatment. Meanwhile, blood pressure and heart rate of patients and side effect of drug were observed.MAIN OUTCOME MEASURES: ① Results of effective evaluation; ②Blood pressure and heart rate before and after treatment; ③ Adverse events and side effect.RESULTS: Totally 30 patients entered the final analysis. ① Among 30 patients with essential tremor, 6 had obvious effect, 11 had effect, 5 had a little effect, 7 had no effect, and 1 was worse. ② Average of blood pressure before treatment was (138.5±14.6)/(84.2±6.4) mm Hg (1 mm Hg=0.133 kPa), and was (130±10)/(79.7±6.3) mm Hg after 1 course. Average heart rate was (77.5±6.4) times/minute before treatment and (75±6.4) times/minute after treatment. The difference was not significant. ③ Among 30 patients, 4 had side effect at various degrees which was accounted for 13.4%; 1 had distress after medication, 1 had agrypnia, 2 had fullness in head and dizziness, and 1 gave up the treatment because of deteriorated tremor.CONCLUSION: Hydrochloric-acid arotinolol can improve tremor symptom of patients obviously and is an effective drug to treat essential tremor with convenient and safe medication.

Objective To investigate the feasibility of hip replacement through a minimal incision via modified Hardinge approach.Methods Hip replacement was performed in 21 cases(22 hip joints) from July 2005 to March 2006.The operation was completed through a minimal incision via modified Hardinge approach,with the greater trochanter as the center.There were 12 cases of total hip replacement(13 hip joints) and 9 cases of bipolar femoral head replacement.A biological prosthesis was used in all the cases. Results The mean length of incision was 7.6 cm(range,6.0~9.0 cm),the mean operation time was 76 min(range,(45~)150 min),and the mean blood loss,370 ml(range,190~580 ml).No severe complications occurred.All the cases were followed for a mean of 38 weeks(range,22~53 weeks).Evaluation with the Harris hip score system showed excellent outcomes in 18 cases(19 hips) and good in 3 cases,with a rate of excellent or good results of 100%.Conclusions Minimal incision hip replacement through the modified Hardinge approach has advantages of minimal trauma,little blood loss,low complication rate,and quick recovery.

ObjectiveTo compare the clinical and the pathological diagnosis of elderly with dementia, assess the related factors affecting the diagnosis.MethodsThe 42 autopsied elderly patients with dementia were assessed with the National Institute for Neurological Disorders and Stroke (NINDS) criteria and the ischemic scales of Hachinski, Rosen, Loeb and Gandolfo for the clinical diagnosis of dementia. Specificity was calculated using the neuropathologic diagnosis as a gold standard.ResultsThe patients were differentiated with pathology verified Alzheimer's disease (AD), vascular dementia (VaD), and “mixed” (AD plus VaD) dementia, Parkinson's disease dementia (PDD). Comparing clinical criteria and neuropathology, the consistent rate was 80.0% for AD, 52.4% for VaD, 18.2% for AD+VaD and 0.0% for PDD. The consistent rate between 3 scores and the pathological diagnosis was about 40%～70%. There were no significant differences between the average age of onset and the survival time, and the ischemic scales of Hachinski, Rosen, Loeb and Gandolfo among the 4 types of dementia. There was no significant difference in the specificity of the NINDS criteria among the 4 types of dementia.ConclusionDementia associated with cerebrovascular disease and Parkinson's disease is the main factor affecting the diagnosis of elderly with dementia. There is no significant difference for the diagnosis of dementia among the ischemic scales of Hachinski, Rosen, Loeb and Gandolfo.