Heart Rate Variability in Patients with Acute Ischemic Stroke at Different Stages of Renal Dysfunction: A Cross-sectional Observational Study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Renal function is associated with mortality and functional disabilities in stroke patients, and impaired autonomic function is common in stroke, but little is known regarding its effects on stroke patients with renal dysfunction. This study sought to evaluate the association between autonomic function and stroke in patients with renal dysfunction.</p><p><b>METHODS</b>This study comprised 232 patients with acute ischemic stroke consecutively enrolled from February 2013 to November 2014 at Guangdong Provincial Hospital of Chinese Medicine in China. All patients recruited underwent laboratory evaluation and 24 h Holter electrocardiography (ECG). Autonomic function was measured based on the heart rate variability (HRV) using 24 h Holter ECG. Renal damage was assessed through the estimated glomerular filtration rate (eGFR), and stroke severity was rated according to the National Institutes of Health Stroke Scale (NIHSS). The Barthel index and modified Rankin score were also determined following admission. All the clinical covariates that could potentially affect autonomic outcome variables were adjusted with linear regression.</p><p><b>RESULTS</b>In the patients with a mild or moderate decreased eGFR, the values for the standard deviation of the averaged normal-to-normal RR interval (SDANN) index (P = 0.022), very low frequency (VLF) (P = 0.043), low frequency (LF) (P = 0.023), and ratio of low-to-high frequency power (LF/HF) (P = 0.001) were significantly lower than those in the patients with a normal eGFR. A multinomial linear regression indicated that eGFR (t = 2.47, P = 0.014), gender (t = -3.60, P < 0.001), and a history of hypertension (t = -2.65, P = 0.008) were the risk factors of LF/HF; the NIHSS score (SDANN index: t = -3.83, P < 0.001; VLF: t = -3.07, P = 0.002; LF: t = -2.79, P = 0.006) and a history of diabetes (SDANN index: t = -3.58, P < 0.001; VLF: t = -2.54, P = 0.012; LF: t = -2.87, P = 0.004) were independent factors for the SDANN index, VLF, and LF; the Oxfordshire Community Stroke Project (t = -2.38, P = 0.018) was related to the SDANN index.</p><p><b>CONCLUSIONS</b>Autonomic dysfunction is aggravated with the progression of eGFR stage in patients with acute ischemic stroke; the eGFR is an independent factor of LF/HF in the adjusted models. Stroke severity and a history of diabetes are more significantly associated with HRV in patients with acute ischemic stroke at different stages of renal dysfunction.</p>

Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case / 南方医科大学学报

<p><b>OBJECTIVE</b>Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine?type-1 (FHM1), and spinocerebellar ataxia type-6?(SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members.</p><p><b>METHODS</b>Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene mutation in the family members.</p><p><b>RESULTS</b>Physical examinations of the patient revealed signs of ataxia, drunken gait, and tremor of his head and body. Four other members in his family had similar but much milder symptoms. A heterozygous missense mutation in CACNA1A (NM_001127221.1 c.4034G->A, p.R1345Q, exon 25) was identified in the proband, which was confirmed in the affected family members. The proband did not respond to methazolamide treatment, but his tremor symptom was well controlled with flunarizine, a calcium channel blocker.</p><p><b>CONCLUSION</b>Based on the clinical features, mutation analysis and treatment response, we suggest that this patient with a missense CACNA1A mutation, R1345Q, has a new type of ataxia with episodic tremor other than any of EA2, FHM1, or SCA 6.</p>

Perioperative intensive statin therapy improves outcomes in patients with ischemic stroke undergoing middle cerebral artery stent implantation / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate whether intensive statin therapy during the perioperative period improves outcomes in patients undergoing middle cerebral artery (MCA) stent implantation for ischemic stroke.</p><p><b>METHODS</b>Forty patients with ischemic stroke undergoing delayed stent implantation in our department from January, 2010 to November, 2014 were randomized to intensive statin group (atorvastatin, 80 mg/day, 3 days before till 3 days after intervention; n=20) and standard therapy group (atorvastatin, 20 mg/day, n=20). All the patients received long-term atorvastatin treatment thereafter (20 mg/day). Serum levels of C-reactive protein (CRP), vascular cell adhesion molecule-1 (VCAM-1), and soluble extracellular matrix metalloproteinase inducer (EMMPRIN/CD147) were measured at 24 h before and 24 h after the intervention. The primary end point was procedure-related intra-stent thrombosis, 1-month incidence of major adverse cerebrovascular events (stroke, transient ischemic attack, in-stent restenosis, death or unplanned revascularization).</p><p><b>RESULTS</b>The basic clinical data were similar between the two groups before the intervention (P>0.05). In the intensive therapy group, the levels of CRP, VCAM-1, and sCD147 were significantly lower at 24 h after the intervention than the levels before intervention (P<0.05) and the postoperative levels in the standard therapy group (P<0.05). The levels of CRP, VCAM-1, and sCD147 were all increased after the intervention in the standard therapy group (P>0.05). The incidence of primary end point was lower in intensive therapy group than in standard therapy group (P<0.05).</p><p><b>CONCLUSION</b>In patients undergoing MCA intravascular stent implantation for ischemic stroke, perioperative intensive statin therapy improves the patients' outcomes, reduces the levels of CRP, VCAM-1 and sCD147 molecules, and lowers the incidences of cerebrovascular events.</p>

Effect of HDAC-6 on PD cell induced by lactacystin

OBJECTIVE@#To explore the effects of histone deacetylase 6(HDAC-6) on the PD cell model induced by proteasome inhibitor lactacystin.@*METHODS@#Human neuroblastoma SK-N-SH cells were cultured. The wild type pcDNA3.1-alpha-synuclein eukaryotic expression plasmid was transferred into the cells which then were divided into control group, group L, group T and group T+L. The cells of group L were added with 5 μmol/L lactacystin dissolved indimethylsulfoxide (DMSO) to induce PD cell model with abnormal protein aggregation, the cells of control group were treated with 5 μmol/L DMSO, the cells of group T were treated with 5 μmol/L selective HDAC-6 inhibitor tubacin dissolved in DMSO, and the cells of group T+L were treated with 5 μmol/L lactacystin and 10 μmol/L tubacin dissolved in DMSO. The expression levels of alpha-synuclein oligomers, HSP-27 and HSP-70 were detected by Western blot and the cell survival rate of all the groups was detected by MTT colorimetric assay, and compared 24 h after the cells were treated.@*RESULTS@#The expression levels of alpha-synuclein oligomers, HSP-27 and HSP-70 of the cells of group L were significantly higher than the control group, and the cell survival rate was significantly lower (P  0.05).@*CONCLUSIONS@#The expression level of alpha-synuclein oligomers can be improved and the cell survival rate can be reduced by the PD cell model induced by lactacystin and treated with selective HDAC-6 inhibitor tubacin, which means that alpha-synuclein oligomers of the PD cell model induced by lactacystin can be inhibited and the cell survival rate can be improved by HDAC-6, and the mechanism may be related to the increased of HSP-27 and HSP-70.

Effect of HDAC-6 on PD cell induced by lactacystin

Objective: To explore the effects of histone deacetylase 6(HDAC-6) on the PD cell model induced by proteasome inhibitor lactacystin. Methods: Human neuroblastoma SK-N-SH cells were cultured. The wild type pcDNA3.1-alpha-synuclein eukaryotic expression plasmid was transferred into the cells which then were divided into control group, group L, group T and group T+L. The cells of group L were added with 5 μmol/L lactacystin dissolved indimethylsulfoxide (DMSO) to induce PD cell model with abnormal protein aggregation, the cells of control group were treated with 5 μmol/L DMSO, the cells of group T were treated with 5 μmol/L selective HDAC-6 inhibitor tubacin dissolved in DMSO, and the cells of group T+L were treated with 5 μmol/L lactacystin and 10 μmol/L tubacin dissolved in DMSO. The expression levels of alpha-synuclein oligomers, HSP-27 and HSP-70 were detected by Western blot and the cell survival rate of all the groups was detected by MTT colorimetric assay, and compared 24 h after the cells were treated. Results: The expression levels of alpha-synuclein oligomers, HSP-27 and HSP-70 of the cells of group L were significantly higher than the control group, and the cell survival rate was significantly lower (P 0.05). Conclusions: The expression level of alpha-synuclein oligomers can be improved and the cell survival rate can be reduced by the PD cell model induced by lactacystin and treated with selective HDAC-6 inhibitor tubacin, which means that alpha-synuclein oligomers of the PD cell model induced by lactacystin can be inhibited and the cell survival rate can be improved by HDAC-6, and the mechanism may be related to the increased of HSP-27 and HSP-70.

Risk factors for cerebral microbleeds / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the risk factors of cerebral microbleeds (CMBs).</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>A 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).</p><p><b>CONCLUSION</b>Age, 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.</p>

Clinical study of susceptibility-weighted magnetic resonance imaging in lacunar cerebral infarction / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the clinical application of susceptibility-weighted magnetic resonance imaging (SWAN) in lacunar cerebral infarction imaging.</p><p><b>METHODS</b>Forty-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.</p><p><b>RESULTS</b>In 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.</p><p><b>CONCLUSION</b>MRI 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.</p>

Correlation between diffusion anisotropy of the white matter fibers and cognitive function in patients with leukoaraiosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the correlation between the diffusion anisotropy of the white matter fibers and the cognitive function in patients with leukoaraiosis (LA).</p><p><b>METHODS</b>Thirty-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.</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSION</b>The 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.</p>

Relationship between cystatin C and cerebral infarction / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the relationship between cystatin C and cerebral infarction and explore the role of cystatin C in the protection against cerebral infarction.</p><p><b>METHOD</b>Eighty-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.</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSIONS</b>Cystatin C is closely related to cerebral infarction probably as a protective factor against cerebral infarction.</p>

Value of lower-limb short latency somatosensory evoked potentials in predicting early death in patients with massive cerebral infarction / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the value of lower-limb short latency somatosensory evoked potentials (SLSEP) in predicting early death in patients with massive cerebral infarction.</p><p><b>METHODS</b>Forty-eight patients of massive cerebral infarction were admitted in the Neurological Intensive Care Unit (NICU) between March 2008 and March 2009, and Glasgow-Pittsburgh coma scale (GPCS) and SLSEP were recorded and graded within 24 h after admission. The patients were divided into survival and death groups (including brain death) according to their short-term prognosis. The correlations of SLSEP and GPCS to the mortality were assessed.</p><p><b>RESULTS</b>A significant correlation was found between SLSEP and the mortality in patients with massive cerebral infarction (r=0.484, P<0.001). The positive predictive value of the SLSEP grade 3 to death was 100%, and the patients with malignant middle cerebral artery infarction (mMCAI) appeared to have a 100% mortality.</p><p><b>CONCLUSION</b>SLSEP grade 3 can be a highly specificity in predicting early death in patients with massive cerebral infarction, and it is also of value in determining the timing of surgical intervention of mMCAI.</p>

Relationship of interleukin-1beta, tumor necrosis factors-beta and interleukin-10 gene polymorphisms with serum lipoprotein level in Chinese Han population in Guangdong Province / 南方医科大学学报

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSION</b>The 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.</p>

Continuous intraspinal ceftazidime administration in a case for treatment of purulent meningitis / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the feasibility of continuous intraspinal ceftazidime administration for treatment of purulent meningitis due to Achromobacter infection.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>Continuous intraspinal ceftazidime administration can be effective and safe for treatment of purulent meningitis.</p>

Pathological analysis of heroin spongiform leukoencephalopathy / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the pathological characteristics of heroin spongiform leukoencephalopathy (HSLE).</p><p><b>METHODS</b>Cerebral tissue specimens were obtained from 15 patients with HSLE and the histological observations under optical and electron microscopes were carried out by HE, Bielschowsky's, and chromotrope 2R-brilliant green staining.</p><p><b>RESULTS</b>HSLE was characterized primarily by spongiform vacuolar degeneration of the cerebral white matter. Neurons in the gray matter, Purkinje and granular cells in the cerebella remain intact in all the cases. Numerous vacuoles, which merged to form larger cavities, appeared in the damaged white matter, and the axons survived in the deep white matter. The myelin sheath in the cerebellar white matter sustained more severe damages than those in the cerebral white matter. No vacuoles or lymphocyte infiltration occurred in the small peripheral vessels.</p><p><b>CONCLUSION</b>HSLE is pathologically characterized by vacuolar degeneration due to primary damage of the myelin, and the spongiform vacuolar degeneration is closely associated with the severity of demyelination in the white matter.</p>

Relationship between polymorphisms of interleukin 10 promoter and serum levels of lipoprotein in the Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the relationship between polymorphisms of interleukin 10 (IL10QX) promoter and serum levels of lipoprotein in the healthy Chinese Han population.</p><p><b>METHODS</b>PCR 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.</p><p><b>RESULTS</b>Comparing 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).</p><p><b>CONCLUSION</b>The 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.</p>

Cloning and sequencing of the junction fragment of dystrophin gene with exons 3 to 5 deletion / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the mechanisms of dystrophin gene deletion by cloning and sequencing the junction fragment of dystrophin gene with exons 3 to 5 deletion.</p><p><b>METHODS</b>PCR 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.</p><p><b>RESULTS</b>A 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.</p><p><b>CONCLUSION</b>Repeat 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.</p>

Cloning and sequencing of junction fragment with exons 45-54 deletion of dystrophin gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the mechanisms of dystrophin gene deletion, the junction fragment with exons 45-54 deletion were cloned and sequenced.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>A 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.</p><p><b>CONCLUSION</b>The 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.</p>

Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the exons deletion mechanisms for dystrophin gene, the molecular characters of breakpoints of junction fragments for deletion-type Duchenne muscular dystrophy (DMD) patients with 46 and 51 exons deletion were compared and analyzed.</p><p><b>METHODS</b>Deletion-type DMD patients were detected by multiplex polymerase chain reaction(mPCR). The breakpoints of junction fragments with 46 and 51 exons deletions were cloned and sequenced respectively.</p><p><b>RESULTS</b>Analysis of sequences of deletion-junction fragment of exon 46 showed that the 5'breakpoint was located in AT-rich region of intron 45 and the 3' breakpoint was in medium reiteration repeats (MER1) sequence. There existed 2 bp(ta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. Similarly, analysis of sequences of deletion-junction fragment of exon 51 showed that the 5 breakpoint was located in transposon-like human elements (THE1) of intron 50 and the 3' breakpoint was in L2 sequence. There existed 3 bp(cta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. By analyzing the secondary structure of junction fragments with 46 and 51 exons deletions, it was demonstrated that all breakpoints of junction fragments were located at the non-matching regions of single-strand hairpin.</p><p><b>CONCLUSION</b>By comparing the junction fragments with 46 or 51 exons deletion, it was found that all of breakpoints were located in repeat sequences and the repeat sequences formed the single-strand hairpin which could make the introns instable and result in exon deletion.</p>

The association of paraoxonase 2 gene C311S variant with ischemic stroke in Chinese type 2 diabetes mellitus patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between the C311S polymorphism of paraoxonase 2 (PON2) gene and ischemic stroke in Chinese type 2 diabetes mellitus (T2DM) patients.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>C311S 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).</p><p><b>CONCLUSION</b>The 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.</p>

MRI features of patients with heroin spongiform leukoencephalopathy of different clinical stages / 中华放射学杂志

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.