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 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 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 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 mechanisms of dystrophin gene deletion by cloning and sequencing the junction fragment of dystrophin gene with exons 3 to 5 deletion.

METHODSPCR was performed to verify dystrophin gene exons 3 to 5 deletion in a patient with Duchenne muscular dystrophy. A PCR-based genome-walking method was used to localize the breakpoint in introns 2 and 5, and 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 breakpoint in the introns 2 and 5. The sequencing result of the deletion-junction fragment was compared with the normal intron sequences.

RESULTSA sequence of 2113 bp containing the junction fragment was obtained. The 5' breakpoint was located in SINE/Alu element of intron 2, and the 3' breakpoint was located in the unique sequence near the sequence TTTAAA. The breakpoints were associated with a strong topoisomerase II cleavage site. A 26-bp fragment was inserted into the breakpoint and formed 3 duplications (GGCTTATATTTAA) of 13 bp around the deletion-junction fragment.

CONCLUSIONRepeat sequence and strong topoisomerase II cleavage site around the breakpoint may predispose double-strand DNA breaks and recombination, which, in addition to the nonhomologous end-joining mechanism, may contribute as important factors to the gene deletion.

Adult ; Base Sequence ; Chromosome Breakage ; Cloning, Molecular ; Dystrophin ; genetics ; Exons ; genetics ; Gene Deletion ; Humans ; Male ; Molecular Sequence Data ; Muscular Dystrophies ; genetics ; pathology ; Polymerase Chain Reaction ; Sequence Analysis, DNA

OBJECTIVETo investigate the feasibility of continuous intraspinal ceftazidime administration for treatment of purulent meningitis due to Achromobacter infection.

METHODSA patient with established diagnosis of purulent meningitis due to Achromobacter infection was admitted, who failed to respond favorably to a 3-day ceftazidime treatment administered intravenously. Continuous intraspinal ceftazidime administration at the dose of 0.2 g/d was then attempted through a catheter placed in the cisterna magna in addition to intravenous ceftazidime for 3 days, which resulted in obvious relief of the symptoms. The catheter was subsequently withdrawn, and the patient received further treatment with additional intravenous ceftazidime for a week.

RESULTSThe symptoms of purulent meningitis was significantly improved after a 3-day continuous intraspinal ceftazidime administration, and the patient was eventually cured after completion of the treatment course. Intrathecal ceftazidime was also attempted previously but failed due to intolerance of pains in the legs. No relapse was observed in this case 3 months after the discharge.

CONCLUSIONContinuous intraspinal ceftazidime administration can be effective and safe for treatment of purulent meningitis.

Achromobacter ; Adult ; Anti-Bacterial Agents ; therapeutic use ; Catheters, Indwelling ; Ceftazidime ; therapeutic use ; Humans ; Injections, Spinal ; Male ; Meningitis, Bacterial ; drug therapy ; Treatment Outcome

OBJECTIVETo evaluate the clinical application of susceptibility-weighted magnetic resonance imaging (SWAN) in lacunar cerebral infarction imaging.

METHODSForty-two cases of lacunar cerebral infarction, including 18 complicated by high blood pressure, 4 by type 2 diabetes and 12 by both high blood pressure and type 2 diabetes, underwent examinations with SWAN and conventional MRI sequences (including GRE sequence T(1) and T(2), T(2) gradient echo, T(2) FLAIR, DWI). The imaging data were analyzed in comparison with the clinical data of the patients.

RESULTSIn 23 patients with lacunar cerebral infarction, intracerebral micro-hemorrhage displayed point-like, round and oval low signal on SWAN. A total of 123 lesions were identified, distributing from the cortical, subcortical, basal ganglia, thalamus, brain stem to the cerebellum. The conventional sequences were more sensitive in detecting the majority of lacunar cerebral infarction than SWAN, while the latter showed better performance in displaying cerebral micro-hemorrhage, tiny blood vessels and small vascular malformations as well as other small vascular diseases. SWAN was superior to other sequences in showing lacunar cerebral infarction complicated by cerebral micro-hemorrhages.

CONCLUSIONMRI SWAN can better display lacunar cerebral infarction associated with cerebral micro-hemorrhages and small veins in the infract region. Identification of the micro-hemorrhages in lacunar cerebral infarction can be critical in determining the proper treatments. Patients with lacunar cerebral infarction are likely to have cerebral micro-hemorrhages in close relation to the number of lacunar infarction sites. The cerebral micro-hemorrhages and lacunar cerebral infraction are both signs of micro-vessel damage of the brain.

Aged ; Cerebral Infarction ; classification ; complications ; diagnosis ; Diabetes Mellitus, Type 2 ; complications ; Female ; Humans ; Hypertension ; complications ; Magnetic Resonance Imaging ; methods ; Male ; Sensitivity and Specificity

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