Objective To examine how stroke affects muscle coordination and whether muscle function will be improved after rehabilitation.Methods Ten stroke patients with mild hemiparesis and six age-and sex-matched controls were investigated at baseline.Velocity-encoded phase-contrast magnetic resonance imaging (VE-PC MRI) and surface eleetromyography (sEMG) were performed to evaluate muscle coordination of thigh muscles during knee extension and flexion and the effect of rehabilitation. Results Using VE-PC MRI,we found that the peak velocity of rectus femoris was lower in the affected limb (P

Objective To detect the disease-causing mutations in Duchenne muscular dystrophy (DMD) gene of DMD or Becher's muscular dystrophy (BMD) patients or carriers. Methods Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were coupled to analyze the disease-causing mutations in DMD gene. Results Ten patients were detected to have deletions in different exons; 1 patient was caused by duplication of exon 50 using DHPLC analysis, and 4 patients were found to be caused by non-sense point mutations. However, the disease-causing mutations of other 5 patients remained to be determined. Conclusion MLPA coupled with DHPLC analysis can be used to detect the disease-causing mutations of DMD or BMD systematically, and provide valuable information for the affected families in preventing from recurrence of DMD or BMD.

Objective To study the relationship between ischemic stroke (IS) and both gene polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and cigarette smoking. Methods Four hundred and fifty-four patients with IS and 334 controls were recruited in our study; their gene polymorphisms of MTHFR were detected by PCR and denaturing high performance liquid chromatogram (DHPLC). The patients were further divided into different subgroups based on TOAST criteria and scores of neurological impairments and the distribution of MTHFR genotypes were analyzed accordingly. The relationships between IS and both cigarette smoking and these genotypes were measured by odds ratios (ORs) and 95％ confidence intervals (95％CIs). The ORs and 95％ Cls were calculated by unconditional logistic regression. Results TT genotype and T allele were associated with LAA type and CE type,moderate type and severe type of IS. OR of TT genotype and T allele in smoking patients with IS were 4.393 and 2.359, respectively; but the OR ofCC genotype in smoking patients with IS was 0.353. On the other hand, the OR of all genotypes and alleles in non-smoking patients with IS were not significantly different as compared with those in controls. Conclusion Cigarette smokers with T alleles are likely to suffer IS, but those cigarette smokers with C alleles are not; and there exist interactions between cigarette smoking and MTHFR gene in the pathogenesis of IS.

Antibody against the angiotensin AT1 receptor (AT1-Ab) could disturb placental development. The placenta is the key organ between mother and fetus. Placental damage will seriously impair fetal growth and development in utero, leading to intrauterine growth restriction (IUGR). Based on the fetal origins of adult disease (FOAD) hypothesis, IUGR could increase a propensity to develop adult onset cardiovascular disease (CVD). The present study was designed to determine whether vascular function has changed in the adult offspring of AT1-Ab positive pregnant rats. Twenty four female rats (8-week-old, AT1-Ab negative) were randomly divided into two groups, immunized and vehicle groups. Immunized group received active immunization to establish AT1-Ab-positive model, while vehicle group was subjected to Freund's adjuvant without antigen. After 8 weeks of immunization, the antibody titers in sera from the female rats were detected by enzyme-linked immunosorbent assay (ELISA). Then all the female rats were mated with normal Wistar male rats and became pregnant. Immunized/vehicle group offspring rats (I offspring/V offspring) were raised to 40-week-old under standard chow feeding. Then the two groups' offspring rats were given a high-salt diet for 12 weeks (4% NaCl in chow feeding). Systolic blood pressure (SBP) was measured dynamically by noninvasive blood pressure system. The vascular ring experiment was performed to detect vascular function and reactivity. As detected by ELISA, the titers of antibody peaked at the 8th week (OD values: 2.75 ± 0.08 vs 0.33 ± 0.01, P < 0.01 vs vehicle group at the same time point). There was no significant difference of SBP between the two groups' offspring rats during the high-salt diet (P > 0.05). Isolated thoracic aortic rings of I offspring had significantly decreased constriction under norepinephrine treatment (P < 0.01 vs V offspring) and significantly decreased dilation under acetylcholine treatment (P < 0.05 vs V offspring). These results suggest that the offspring of AT1-Ab-positive pregnant rats are more susceptible to vascular functional abnormality while being fed high-salt diet.
Animals ; Antibodies ; blood ; Cardiovascular Diseases ; etiology ; physiopathology ; Disease Susceptibility ; Female ; Fetal Growth Retardation ; physiopathology ; Immunization ; Pregnancy ; Prenatal Exposure Delayed Effects ; Rats ; Rats, Wistar ; Receptor, Angiotensin, Type 1 ; immunology ; Sodium Chloride, Dietary ; administration & dosage ; adverse effects

Hashimoto's encephalopathy(steroid-responsive encephalopathy associated with autoimmune thyroiditis,SREAT)is a rare disorder,accompanied by seizures,tremor,myoclonus,ataxia,psychosis,and stroke-like episodes,breaking out with an acute or subacute onset and having a relapsing/remitting or progressive course which is not correlated to thyroid hormone levels.Patients with Hashimoto's encephalopathy are usually euthyroid or dysthyroid with positive antithyroid antibodies,have a moderately raised cerebrospinal fluid protein content,and have a global slowing of the electroencephalogram and a normal or near normal imaging except in rare cases.The pathogenesis of Hashimoto's encephalopathy is still obscure.This paper reports a case diagnosed as"Hashimoto's encephalopathy".It is suggested that the diagnosis of Hashimoto's encephalopathy should be considered in cases with unexplained encephalopathy associated with high levels of antithyroid antibodies despite normal thyroid function.

Human-animal parasitic diseases caused by medical helminths are hazardous to human health. Genetic polymorphism studies on medical helminth populations can not only understand the biological characteristics and genetic structure of their populations, but also help reveal how they adapt to their parasitic environment, thus contributing to deepen our understanding of the epidemiological patterns of parasitic diseases and improve our understanding of accurate prevention and control of parasitic diseases. With the development of molecular biology, molecular markers such as DNA barcodes, simple sequence repeats, and single nucleotide polymorphism markers have been widely used to study the genetic relationships among parasite populations and individuals, and to reveal the genetic variation of parasite populations and the evolution of species origins. In this paper, we systematically review the application of three molecular markers commonly used in the study of genetic polymorphism in medical helminths, with a view to laying the foundation for related research.

OBJECTIVEThis study aimed at exploring the feasibility of using dried blood spots (DBS) to detect HIV drug resistance genotyping in China by comparing the results of drug resistance from DBS, plasma and whole blood samples.

METHODSBlood samples were collected from 39 AIDS patients from Anhui (10), Yunnan (13), Hunan (6) and Xinjiang (10) provinces and autonomous regions. The HIV strains that infected these patients covered all the major HIV-1 subtypes prevailing in China (B, CRF01_AE, CRF07_BC). HIV drug resistance genotyping assay was performed on DBS as well as on the whole blood and plasma samples from the same patients simultaneously by using an in-house nest RT-PCR method. Drug resistance levels were determined based on Stanford University HIV drug resistance database, and the results from these three types of samples were compared.

RESULTSThe percentages of successful amplification of protease and reverse transcriptase regions in the pol gene were 95% (37/39) from DBS, 92% (36/39) from whole blood and 100% (39/39) from plasma samples. The sequences from the three types of samples showed more than 99% identity.86% (31/36) of the DBS samples had the same set of drug resistance mutations as those which were detected from plasma samples. The differences probably resulted from mixed bases.

CONCLUSIONSThere was no major difference in detecting HIV drug resistance genotyping among DBS, plasma and whole blood samples. Therefore, DBS is useful for detection of HIV drug resistance genotyping and is particularly valuable in developing countries like China, especially in remote rural regions.

Dried Blood Spot Testing ; Drug Resistance, Viral ; genetics ; Feasibility Studies ; Genotype ; HIV Infections ; blood ; genetics ; virology ; HIV Seropositivity ; blood ; genetics ; virology ; HIV-1 ; drug effects ; genetics ; Humans ; Reverse Transcriptase Polymerase Chain Reaction ; Viral Load

OBJECTIVETo establish a method for detecting the polymorphism of methylenetetrahydrofolate reductase gene (MTHFR).

METHODSThe MTHFR was amplified, and the amplified products were detected by denaturing high performance liquid chromatography (DHPLC), and the amplified MTHFR was confirmed by sequencing and restriction enzyme digesting.

RESULTSA total of 334 individuals of Han people in southern China were recruited in our study, and their polymorphisms of MTHFR were detected. The accurate rate of the DHPLC method, that was very sensitive with 100% detection rate available, was over 99%. The frequencies of CC, CT and TT genotypes were 56.9%, 38.3% and 4.8% individually, and the frequencies of T and C alleles were 23.95% and 76.05% individually.

CONCLUSIONThe DHPLC method can detect polymorphism of MTHFR rapidly, effectively and economically. And there is the existence of different MTHFR polymorphisms in area and race.

Adult ; Aged ; Aged, 80 and over ; Alleles ; China ; ethnology ; Chromatography, High Pressure Liquid ; methods ; DNA Mutational Analysis ; Female ; Humans ; Male ; Methylenetetrahydrofolate Dehydrogenase (NAD+) ; genetics ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Middle Aged ; Nucleic Acid Amplification Techniques ; Polymorphism, Genetic

OBJECTIVETo investigate the distribution of translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy (FSHD) patients and normal individuals.

METHODSThe Bgl II-Bln I dosage test was performed to study the distribution of translocation between chromosomes 4q35 and 10q26 in 70 cases of FSHD patients, 55 cases of kindred with FSHD, and 52 cases of normal controls.

RESULTS(1) In normal individuals, the frequency of translocation between chromosomes 4q35 and 10q26 is 19.23%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are both 9.62%. (2) In the FSHD patients, the frequency of translocation between chromosomes 4q35 and 10q26 is 18.57%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are 12.86% and 5.71% respectively.

CONCLUSIONSThe translocation between chromosomes 4q35 and 10q26 was frequently observed in both normal Chinese population and FSHD patients. No significant difference was observed between them.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral ; genetics ; Translocation, Genetic

OBJECTIVETo increase the sensitivity and specificity of conventional gene diagnosis of facioscapulohumeral muscular dystrophy 1A(FSHD1A) by analyzing the distribution of translocation between chromosomes 4q35 and 10q26 in suspected FSHD cases.

METHODSThe Bgl II- Bln I dosage test was performed to detect translocation between chromosomes 4q35 and 10q26 in 7 cases of presymptomatic FSHD patients showing positive result in gene diagnosis and 5 cases of sporadic FSHD patients showing negative result in gene diagnosis. DNA samples were digested with Bgl II and Bln I, followed by agrose gel electrophoresis. Probe p13E-11 was labeled with alpha-(32) P dCTP, followed by Southern hybridization. Then the ratio between the chromosomes 4 and 10 derived signal intensities was judged and hence was made known whether there was interchromosomal translocation between chromosomes 4 and 10.

RESULTSThe Bgl II-Bln I dosage test revealed a translocation from chromosome 4q35 to 10q26 in one presymptomatic FSHD patient, thus indicating the result of gene diagnosis for her might be false positive. There was one translocation from chromosome 10q26 to 4q35 detected in one sporadic FSHD patient, indicating the result of gene diagnosis for her might be false negative. There were no translocations between chromosomes 4 and 10 in the other 10 cases.

CONCLUSIONThe Bgl II-Bln I dosage test can detect the translocation between chromosomes 4q35 and 10q26. It can improve the accuracy of the conventional method for gene diagnosis of FSHD1A.

Adolescent ; Adult ; Bacterial Proteins ; pharmacology ; Child ; Child, Preschool ; Deoxyribonucleases, Type II Site-Specific ; pharmacology ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral ; diagnosis ; genetics ; Nuclear Proteins ; Proteins ; genetics ; Translocation, Genetic