Objective To study the gene mutation characteristics of patients with spinocerebellar ataxias(SCA) in Ningxia region.Methods The SCA3/Machado-Joseph disease(MJD)trinucleotide CAG repeat number was detected by polymerase chain reaction(PCR),capillary gel electrophoresis(CGE) and DNA sequencing in 6 patients with SCAs and 4 normal kindreds from a family in Ningxia region.Results All patients and 1 kindred were positive for SCA3/MJD;other 3 kindreds were negative for SCA3/MJD.The CAG repeat number was expanded to 66～81 in the patients with SCA3/MJD and a kindred,and 22～33 in other 3 kindreds.Conclusion There is SCA3/MJD in the patients with SCAs of Ningxia region.Gene examining has the great significance for definite diagnosis in the patients with SCAs.

The purpose of the National Competition in Basic Medicine Innovation Forum & Ex-perimental Design in colleges is to boost Excellent-doctor Education Training Plan, cultivating students' scientific research ability and other comprehensive capacity. In practice, the originality and the scientific nature of the selected topic were emphasized through the provision of scientific research funding. The teachers changed their traditional instructional concept and teaching models. They guided the students to select the scientific subjects and took various measures to change students ' learning mode, resulting in gradually pro-moting the students' scientific research level and comprehensive ability. The results showed that these novel strategies are feasible and effective, which may provide a new way for improvement of the excellent doctor program.

Objective To evaluate the clinicopathological characteristics and immunophenotype of solitary fibrous tumor (SFT),which is able to provide the basis for clinical diagnosis and prognosis,differential diagnosis and predictable prognosis.Methods Data from 11 cases of SFT were investigated by immunohistochemical.Results Histologically,SFT was composed of spindle cells,which arranged in fascicles pattern,as well as the collagen and branch vessels.Malignant SFT had higher and crowed cellularity with significant pleomorphism,numerous mitoses and putrescence.Positivity for bcl-2 and CD34 was observed in all SFT.Eight tissues showed CD99 positivity,one showed s-100 positivity,all 1 1 tissues showed Ckpan negativity.Conclusions SFT has originated from different sites,which should be distinguished with fibrosarcoma and other spindle cell neoplasms.More attentions should be paid to malignant SFT and focus on the follow-up visit.

Objective To investigate the changing of endothelial progenitor cells and nitric oxide in patients with pulmonary arterial hypertension secondary to chronic obstructive pulmonary disease.Method Mononuclear cells from 20 healthy persons (the control group, n = 20) , COPD patients without PAH (COPD non-PAH group, n =30) and patients with PAH secondary to COPD (COPD and PAH group, n=30) were investigated. Total mononuclear cells were isolated from peripheral blood by Ficoll density gradient centrifugation. EPC number and migration were assayed by colony forming unit-EPCs (CFU-EPCs) assay and modified Boyden chamber assay , respectively. EPC adhesion assay was performed by replanting those on fibronectin-coated dishes , then adherent cells were counted. The concentration of NO was measured with method of nitrate reductase.Result The numbers of CFU and migration, adhesion activity of circulating EPCs in COPD[ (21.9±3. 9)CFU-EPC] and PAH group[ (14. 2 ±3. 5)CFU-EPC] were significantly lower than that in non-COPD group and COPD non-PAH group [ ( 24.9 ±4.1) CFU-EPC ]. It was also observed that a strong negative correlation between the levels of PAH and the numbers of CFU and adhesion, migration activity of circulating EPCs. The NO level in the PAH group [ (43. 6 ±4. 8)ng/ml] was significantly lower than that in control group [ ( 67. 17±4.9 ) ng/ml ] ( P < 0.01). The NO level was positively correlated with number and migration ability of EPCs( r =0. 77,0.71, P <0.01) , but not correlated with adhesion ability.Conclusion The number of CFU and migratory, adhesive activity of EPC in patients withPAH secondary to COPD was significantly decreased. These changes may be associated with low level of plasma NO.

Objective:To study the change of bifrontal metabolite concentration in patients with mild cognitive impairment (MCI) and its relationship with substantia alba demyelination using magnetic resonance spectroscopy (MRS) combined with linear combination of model (LCModel) quantitative technique.Methods:From May 2016 to December 2018, 25 patients with MCI (group A; 12 males, 13 females, age (60.5±5.2) years) and 15 healthy control subjects (group B; 6 males, 9 females, age (59.5±3.5) years) in the Second Affiliated Hospital of Shantou University Medical College were prospectively enrolled. The MCI patients were classified into 2 subgroups according to MRI results: group A1 with substantia alba demyelination (7 males, 4 females, age (62.1±3.9) years) and group A2 without substantia alba demyelination (5 males, 9 females, age (59.2±5.8) years). Software LCModel was used to quantitatively analyze the MRS original data and measure the absolute concentration of N-acetylaspartate compound (NAA), creatine compound (Cr), choline-containing compound (Cho), myoinositol (mI) and ratios of NAA/Cr, Cho/Cr, mI/Cr, NAA/mI in bilateral frontal lobe. Independent-sample t test was used to analyze the inter-group differences of the above parameters, while Pearson correlation analysis was performed to analyze correlations between the above parameters and cognitive function scores. Results:Compared with group B, group A had higher mI of both left and right frontal lobes (left: (5.19±1.28) vs (4.32±0.83), right: (4.87±1.11) vs (3.85±0.98); t values: 2.34, 2.93, both P<0.05); the mI/Cr of right frontal lobe in group A was also higher (1.19±0.31 vs 0.98±0.25; t=2.21, P<0.05), while the NAA/mI of right frontal lobe was lower (1.37±0.34 vs 1.78±0.47; t=-3.16, P<0.01). Differences of other parameters between group A and group B, and those between group A1 and group A2 were not significantly different ( t values: -1.70 to 1.35, all P>0.05). The mI of right frontal lobe was negatively correlated with Montreal Cognitive Assessment (MoCA) score and Mini-Mental State Examination (MMSE) score( r values: -0.35, -0.38, both P<0.05), on the contrary, NAA/mI of right frontal lobe was positively correlated with the cognitive function scores ( r values: 0.43, 0.40, both P<0.05). Conclusion:MCI may be related to the loss or dysfunction of neurons in the right frontal lobe, and MRS can provide theoretical basis for early recognition of MCI to some extent.

Objective To understand the changes of positive rates of IHA detections of outpatients in schistosomiasis clinic. Results The data of IHA detections of outpatients in schistosomiasis clinic in Hubei Provincial Center for Disease Control and Prevention were collected and analyzed statistically from 2005 to 2014. Results A total of 7 113 outpatients were detected by IHA test,and 547 of them were positives with a positive rate of 7.69%. The positive rate of IHA test was on an upward slope be?fore 2008,and the rate reached 14.85% in 2008,which was significantly higher than that in 2005(5.81%)( χ2 = 47.40,P<0.01),then it was on a declined stage after 2008,and the positive rate decreased to 3.76 in 2014,which was significantly lower than that in 2008( χ2 = 12.29,P<0.01). The positive rate of outpatients in the 10~<30 years age group was higher than those in other age groups(all P < 0.012 5),and the male positives were more than the female ones. Conclusions The schisto?somiasis endemic situation has been significantly decreased in Hubei Province. The male and people in 10~<30 age group are the high risk groups,so the targeted health education should be strengthened.

Objective To investigate the variation law of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values in patients with cerebral infarction, and to explore the relationship between the changes and the prognosis of cerebral infarct patients. Methods Sixteen patients with cerebral infarction were recruited and divided into 2 groups:good recovery and poor rehabilitation. ADC and FA values were calculated in infarct areas and control areas which were the regions with symmetrical position and the same area as infarct areas. The difference of ADC and FA values in patients at acute and earlier chronic stage between the two areas were analyzed. Results ①At acute stage, ADC values in infarct areas were lower than those in control areas (P<0.05). At early chronic stage, there was no significant difference of ADC values between infarct areas and control areas (P>0.05), moreover ADC values were higher than that at acute phase (P<0.05). ②FA values in infarct areas were lower than those in control areas at both acute and early chronic stage (P<0.05). At early chronic stage, FA values were lower than those at acute stage (P<0.05). ③There was no significant difference of ADC and FA values at both acute and early chronic stage between good recovery group compared with poor rehabilitation group (P>0.05). Conclusion There are certainly rules in changes of ADC and FA values in patients with cerebral infarction at acute and earlier chronic stage.

Objective To investigate the clinical, neuroimaging and serum risk factors of cerebral microbleeds (CMBs) in patients with ischemic stroke and find the associations between these risk factors and the location and num?bers of CMBs were also analyzed. Methods One hundred and fifty-three patients with acute ischemic stroke were re?cruited in this study and their data werewas retrospectively analyzed. All of the patients underwent MRI- susceptibility weighted imaging (SWI). The location and numbers of CMBs were recordedexamined. The severity of WMLs was assessed using the Fazekas scale. Logistic regressions were performed to find the predictors of the presence of CMBs. The relation?ships between these risk factors and the location and numbers of CMBs were also analyzed. Results Fifty-nine(38.6%) cases had at least one CMB. The frequency of cortical-subcortical, deep and infratentorial CMBs were 34.0%, 24.8%and 27.5%, respectively. Multivariate logistic regression showed that male sex, hypertension and moderate-to-severe deep white matter hyperintensities (DWMH) were independent risk factors of the presence of CMBs. Adjusted with age and sex, partial correlation showed that hypertension only correlated with the numbers of deep CMBs significantly (r=0.174, P=0.032). Moderate-to-severe DWMH significantly correlated with the numbers of cortical-subcortical and deep CMBs (r=0.285, P<0.001 and r=0.258, P=0.001, respectively). Conclusion Male sex, hypertension and moderate-to-severe DWMH were are independent risk factors of CMBs in patients with ischemic stroke. Hypertension correlates with Deep deep CMBs, while Moderatemoderate-to-severe DWMH correlates with cortical-subcortical and deep CMBs.

OBJECTIVETo explore the source of small supernumerary marker chromosome in a case.

METHODSG-banded karyotyping, fluorescence in situ hybridization, multiple sequence tagged sites (STS) of the Y chromosome, and Illumima Human Cyto SNP-12 Beadchip analysis were carried out.

RESULTSThe karyotype was mos 46,X,+mar1[21]/46,X,+mar2[78]. Y chromosome STS analysis has displayed the presence of sy84, sY86, USP9Y and DDX3Y genes from the AZFa region, and sY1227 of the AZFb region, while sY1228, sY1015, sY127, sY134 from the AZFb region, and sY254 and sY255 from the AZFc region were missing. FISH analysis has verified both of the marker chromosomes to be Y chromosome fragments. Mar1 was ish.idic(Y)(q11.2)(SRY++,DXZ1+,DYZ3++,DYZ1-), while mar2 was ish.del(Y)(q11.2)(SRY+,DXZ1+,DYZ3+,DYZ1-). Single nucleotide polymorphism (SNP) microarray analysis showed that the Yq11.2-Yq12 has lost a 10.81 Mb fragment.

CONCLUSIONThe marker chromosomes were verified to be aberrant Y chromosomes, with the breakage and recombination occurring in Yq11.2. Mar 1 was an isodicentric Y chromosome (idic(Y)pter to q11.2::q11.2 to pter), and mar2 was del(Y)(q11.2). The karyotype was mos 46,X,ish idic(Y)(q11.2)(DYZ3++,SRY++,DXZ1+,DYZ1-)[21]/46,X,ish del(Y)(q11.2)(DYZ3+,SRY+,DXZ1+,DYZ1-)[78]. Combined FISH, Y chromosome STS analysis, SNP microarray analysis and other technologies can facilitate determination of the nature of marker chromosomes.

Adult ; Chromosomes, Human, Y ; genetics ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Sex Chromosome Aberrations ; Sex Chromosome Disorders ; genetics

OBJECTIVETo compare the survival rate of proximal gastrectomy and total gastrectomy in the treatment of esophagogastric junction (EGJ) adenocarcinoma (Siewert II( types), and to provide reference for clinical choice.

METHODSA total of 533 patients with Siewet II( type EGJ adenocarcinoma were screened. All the patients underwent radical operations and were pathologically diagnosed as Siewet II( type EGJ adenocarcinoma in Xijing Hospital of Digestive Diseases from May 2008 to March 2014. These patients all had complete followed-up data. Finally, 234 patients were enrolled into the retrospective study, and divided into proximal gastrectomy group(117 patients) and total gastrectomy group (117 patients) based on the matching of age, sex, tumor size, TNM staging, and differentiation. The survival rate was compared between the two groups.

RESULTSIn proximal gastrectomy and total gastrectomy group, the overall 3-year survival rate was 65.6% and 62.6% respectively, and the overall 5-year survival rate was 53.8% and 44.5% respectively. No significant difference was found between the two groups (P=0.768). In subgroup analyses of 3-year survival rate between proximal gastrectomy group and total gastrectomy group, the results were as follows: 72.8% and 80.4% respectively (P=0.423) for tumor diameter ≤4 cm, 57.9% and 46.5% (P=0.239) for tumor diameter >4 cm, 83.3% and 83.3% (P=0.998) for high differentiated EGJ adenocarcinoma, 68.2% and 53.3% (P=0.270) for moderate differentiated EGJ adenocarcinoma, 56.1% and 69.6% (P=0.280) for poorly differentiated EGJ adenocarcinoma, 64.8% and 56.0% (P=0.451) for mucinous EGJ adenocarcinoma, 80.0% and 76.9% (P=0.912) for T1-2 stage EGJ adenocarcinoma, 64.3% and 60.4% (P=0.610) for T3 stage, 50.0% and 62.5% (P=0.953) for T4a stage, 92.3% and 100% (P=0.380) for stage I( EGJ adenocarcinoma, 79.6% and 66.3%(P=0.172) for stage II(, 42.6% and 49.5% (P=0.626) for stage I I(. All above differences between the two groups were not significant(all P>0.05).

CONCLUSIONProximal gastrectomy and total gastrectomy are comparable in terms of 3-year and 5-year survival rates.

Adenocarcinoma ; diagnosis ; surgery ; Esophageal Neoplasms ; diagnosis ; surgery ; Esophagogastric Junction ; pathology ; surgery ; Gastrectomy ; Humans ; Neoplasm Staging ; Retrospective Studies ; Stomach Neoplasms ; diagnosis ; surgery ; Survival Rate