Adenomatous Polyposis Coli ; diagnosis ; drug therapy ; genetics ; surgery ; Antineoplastic Agents ; therapeutic use ; Colectomy ; Colorectal Neoplasms, Hereditary Nonpolyposis ; diagnosis ; drug therapy ; genetics ; surgery ; DNA Mismatch Repair ; Humans ; Ileostomy ; Peutz-Jeghers Syndrome ; diagnosis ; drug therapy ; genetics ; surgery

Objective To investigate radiological features of patients with heroin spongiform leukoencephalopathy(HSLE)of different clinical stages and discuss the evolutional characteristics of the disease.Methods Thirty two patients with HSLE underwent precontrast MRI and postcontrast MRI.The history of addiction,clinical presentations,and brain MRI were analyzed and summarized according to the patient's clinical staging.There are 6 cases in Ⅰ stage,21 cases in Ⅱ stage,5 cases in Ⅲ stage.Results All patients had history of heroin vapor inhalation.Most of the cases developed subacute cerebellar impairment in earlier period.Brain MRI revealed symmetrical lesion within bilateral cerebellum in all patients.Splenium of the corpus callosum,posterior limb of the internal capsule,deep white matter of the occipital and parietal lobes,were gradually involved with progressive deterioration of HSLE.The brain stem and deep white matter of the frontal and temporal lobes were involved in some cases.Conclusions The history of heated heroin vapor inhalation was the prerequisite for the diagnosis of HSLE.Brain MRI presented the characteristic lesion and its evolution of HSLE.Brain MRI was very important for accurate diagnosis and helpful to judge the clinical stages according to the involved brain region.

OBJECTIVETo investigate the association of IL-1beta+3953, TNFbeta+252 and IL-10-592 polymorphisms with serum lipoprotein levels in Chinese Han population in Guangdong Province.

METHODSA total of 428 individuals of Han nationality from Guangdong Province were enrolled in this study. The genotypes of IL-1beta+3953, TNFbeta+252 and IL-10-592 sites were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The serum concentrations of total cholesterol (TC), TG, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and very low density lipoprotein (VLDL) were determined using an automatic biochemistry analyzer.

RESULTSThe concentrations of TC and LDL in individuals of TNFbeta+252GA genotype was significantly higher than that in TNFbeta+252AA genotype (t=-2.406, P=0.017; t=-2.516, P=0.012). The concentration of LDL in IL-10+3953CT genotype was significantly higher than that in IL-10+3953CC genotype (2.743-/+0.723 vs 2.502-/+0.699 mmol/L, t=-2.639, P=0.009). No significant differences were found in TG, TC, HDL, LDL and VLDL between the 3 genotypes (P>0.05).

CONCLUSIONThe polymorphisms of proinflammatory cytokines are related to the serum lipoprotein level in these subjects. The T allele in IL-1beta+3953 and the G allele in TNFbeta+252 are positively correlated to dyslipidemia.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Interleukin-10 ; genetics ; Interleukin-1beta ; genetics ; Lipoproteins ; blood ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Transforming Growth Factor beta ; genetics ; Young Adult

OBJECTIVETo investigate the correlation between the diffusion anisotropy of the white matter fibers and the cognitive function in patients with leukoaraiosis (LA).

METHODSThirty-one LA patients were enrolled in this study, including 13 with grade LA-1 (mild), 12 with grade LA-2 (moderate) and 6 with grade LA-3 (severe) condition. The control group consisted of 18 subjects who were free of obvious clinical symptoms or had only mild dizziness and headache but with negative history for neural system diseases and in the absence of cognitive dysfunction, brain trauma, positive signs in neurological examinations, or abnormities in MRI examination. The Mini-mental State Examination (MMSE) was applied to evaluate the patients' cognitive function. The LA patients underwent examination with diffusion tensor MR imaging (DTI), and the FA and MD values in the normal-appearing white matter (NAWM) were measured.

RESULTSThe cognitive function of the LA patients tended to decline with the decrease of the MMSE scores, and their scores for time orientation, place orientation and calculation were significantly lower than those of the control group (P<0.05). No significant difference was found in memory, language and comprehensive abilities between the LA and control groups. In LA-1, LA-2 and total LA cases, the FA value in the NAWM was positively, and the MD value inversely, correlated to the cognitive function with correlation coefficients ranging from 0.5 to 0.8 (P<0.05).

CONCLUSIONThe DTI parameters of NAWM region are correlated to the cognitive function of LA patients. DTI is far more sensitive than MRI in evaluating cognitive dysfunction in LA patients.

Aged ; Aged, 80 and over ; Anisotropy ; Case-Control Studies ; Cognition Disorders ; diagnosis ; etiology ; Diffusion Magnetic Resonance Imaging ; methods ; Female ; Humans ; Leukoaraiosis ; complications ; pathology ; Male ; Middle Aged ; Neuropsychological Tests

OBJECTIVETo analyze the risk factors of cerebral microbleeds (CMBs).

METHODSA total of 113 patients with cerebrovascular diseases underwent examinations of magnetic resonance imaging (MRI) of the brain (including T1WI, T2WI, FLAIR, and SWI) and blood biochemical tests, and the brain regions, number and grades of the CMBs were analyzed. The association between CMBs and the cardiovascular risk factors were analyzed.

RESULTSA The occurrence and grade of CMBs were associated with the patients' age, hypertension, diabetes, lacunar infarction, diastolic blood pressure, systolic blood pressure and high-density lipoprotein (HDL) levels (P<0.05). CMB occurrence was significantly associated with diabetes, hypertension, and lacunar infarction (P<0.05), and its incidence varied significantly between different brain regions (P<0.05).

CONCLUSIONAge, hypertension, diabetes, lacunar infarction, diastolic blood pressure, systolic blood pressure, and HDL are all risk factors for CMBs, among which diabetes, hypertension, and lacunar infarction are significant risk factors. CMBs occurs most frequently in the cortex and subcortical region, followed by the basal ganglia, thalamus, and the cerebellum, and most unlikely in the brainstem.

Cerebral Hemorrhage ; epidemiology ; etiology ; pathology ; China ; epidemiology ; Diabetes Complications ; Female ; Humans ; Hypertension ; complications ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Risk Factors

Arterial Occlusive Diseases ; diagnostic imaging ; surgery ; therapy ; Basilar Artery ; diagnostic imaging ; pathology ; surgery ; Humans ; Hypothermia ; diagnostic imaging ; surgery ; therapy ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Thrombectomy

OBJECTIVETo study the relationship between polymorphisms of interleukin 10 (IL10QX) promoter and serum levels of lipoprotein in the healthy Chinese Han population.

METHODSPCR restriction fragment length polymorphism assay was used to detect the distribution of genotypes of IL10 -592,-819,-1082 in 200 healthy Chinese Han subjects. Serum levels of total cholesterol (TC), triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C) and very low-density lipoprotein (VLDL) in all subjects were measured to analyze the relationship with the polymorphisms of IL10 promoter.

RESULTSComparing with AA genotype, the group with GA genotype at IL10 promoter -1082 position had a significant elevation of serum HDL-C level [(1.514+/-0.501) mmol/L vs. (1.261+/-0.346) mmol/L, t=-2.225, P=0.028] and a lower serum TG level[(1.701+/-1.836) mmol/L vs. (0.981+/-0.314) mmol/L,Z=-2.096,P=0.036]. The TG, TC, HDL-C, LDL-C and VLDL levels did not show any statistically significant differences among different genotypes (CC, AA, CA) of the IL10 -592, as well as the genotypes (TT, TA, AA) ofIL10 -819 (P>0.05).

CONCLUSIONThe results suggest that in the Chinese Han population, the polymorphism at position -1082 in the promoter region of IL10 gene may be associated with the serum HDL-C level and TG level.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; Cholesterol ; blood ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; Genotype ; Humans ; Interleukin-10 ; genetics ; Lipoproteins ; blood ; Male ; Middle Aged ; Polymorphism, Genetic ; genetics ; Promoter Regions, Genetic ; genetics ; Triglycerides ; blood ; Young Adult

OBJECTIVETo investigate the association between the C311S polymorphism of paraoxonase 2 (PON2) gene and ischemic stroke in Chinese type 2 diabetes mellitus (T2DM) patients.

METHODSA case-control study of 279 Chinese subjects (including 162 T2DM with or without ischemic stroke and 117 non-diabetic control) was performed. Genotype frequencies of C311S polymorphism were studied by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis with DdeI digestion.

RESULTSC311S polymorphism of PON2 gene was detected in Chinese with the C/S allele frequencies 0.145 and 0.855. The frequency distribution showed significant difference between Chinese and Asian Indian. Furthermore, the genotype distribution (SS, CS and CC) of the PON2 C311S gene polymorphism exhibited a significant difference between T2DM patients complicated with ischemic stroke and T2DM without ischemic stroke, the former had a significantly higher C allele frequency(P<0.05).

CONCLUSIONThe above data indicate that the polymorphism at codon 311(Cys --> Ser)in the PON2 gene is associated with ischemic morbidity in Chinese T2DM patients and C allele might be a risk factor.

Adult ; Aryldialkylphosphatase ; genetics ; Asian Continental Ancestry Group ; genetics ; Diabetes Mellitus, Type 2 ; complications ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Stroke ; etiology ; genetics

OBJECTIVETo study the relationship between cystatin C and cerebral infarction and explore the role of cystatin C in the protection against cerebral infarction.

METHODEighty-three patients with cerebral infarction and 71 randomly selected age- and gender-matched patients in the Department of Neurology (control group) were enrolled in this study. Fasting whole blood (3 ml) was obtained from the patients in both groups and the sera were separated to determine the levels of cystatin C using particle reinforced immunoturbidimetric assay.

RESULTSThe serum cystatin C level was significantly lower in the cerebral infarction group than in the control group (1.62-/+0.31 vs 2.23-/+0.22 mg/L, P<0.01).

CONCLUSIONSCystatin C is closely related to cerebral infarction probably as a protective factor against cerebral infarction.

Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Cerebral Infarction ; blood ; metabolism ; Cystatin C ; blood ; metabolism ; Female ; Humans ; Male ; Middle Aged

OBJECTIVETo study the mechanisms of dystrophin gene deletion, the junction fragment with exons 45-54 deletion were cloned and sequenced.

METHODSA Duchenne muscular dystrophy (DMD) patient with exons 45-54 deletion has been substantiated by PCR amplification of the exons. Then we used a PCR-based genome-walking method for localizing the breakpoints in introns 44 and 54. At last, the deletion-junction fragment was directly amplified by PCR approach with forward and reverse primers annealing to a DNA sequence as close as possible to the breakpoints in introns 45 and 54. The sequencing result of the deletion-junction fragment was compared with the normal intronic sequences.

RESULTSA total of 2716 bp sequence containing the junction fragment was obtained. The 5' breakpoint was located in LINE/L1 element of intron 44 and close to a matrix attachment region (MAR). The 3' breakpoint was located in the minor potential MAR with topoisomerase II cleavage sites around. Beside the 3' breakpoint there was a 6 bp palindromic sequence. A 4 bp microhomologous sequence (AGAG) was in the joint of the deletion-junction fragment.

CONCLUSIONThe nonhomologous recombination caused by L1 repeated element, topoisomerase II cleavage sites, MARs and the nonhomologous end joining of microhomologous sequence may be the important factors in this huge gene fragment deletion.

Base Sequence ; Child ; Cloning, Molecular ; DNA Topoisomerases, Type II ; metabolism ; Dystrophin ; genetics ; Exons ; genetics ; Humans ; Introns ; genetics ; Male ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; Polymerase Chain Reaction ; Sequence Deletion