Establishment and Verification of 6-color Fluorescent-labeled Rapid PCR Amplification System / 法医学杂志

OBJECTIVE@#To establish the rapid PCR amplification program and system and to verify the technical indexes.@*METHODS@#PCR multiplex and capillary electrophoresis detection of 24 autosomal STR loci and one Y-STR loci using the 6-color fluorescence marking technology, as well as A melogenin and Y-InDel. Meanwhile, sensitivity, specificity, identity, stability, mixing and a batch of sample tests were investigated, and the genotype of various routine samples and degraded, exfoliated cell samples were observed.@*RESULTS@#The sensitivity of the system was 0.062 5 ng. In addition, the genotype could be detected accurately only around 65 min via rapid amplification. The species-specificity was high and the genotyping of all kinds of dry blood specimens of filter paper and mixed, degraded, exfoliated cell samples were accurate.@*CONCLUSION@#The rapid amplification system can significantly improve the detection rate, and obtain accurate and stable genotyping results, which may be important implications for the establishment of STR database and study on population genetics and forensic identification.

Magnetic resonance imaging of congenital fibrosis of extraocular muscle associated with limb movement disorder in a family / 中华实验眼科杂志

Background Congenital fibrosis of extraocular muscles (CFEOM) affects patient' s appearance and quality of life,and no effective treatment for this disease is available.Imaging study is helpful for exploring the pathogenesis of CFEOM.Objective This study was to describe the characteristics of CFEOM associated with limb movement disorder using magnetic resonance imaging (MRI).Methods A family with CFEOM associated with limb movement disorder was investigated in Renmin Hospital of Wuhan University.Disease history was collected and the pedigree was investigated.Ophthalmologic examinations,including corrected visual acuity,refractive error,slitlamp examination,ophthalmoscopic examination,force of levator palpebrae superioris,ocular movement,eye position,forced duction test,and bell phenomenon examination,were performed.Ocular orbital and cranial MRI was performed in 4 CFEOM patients and 10 normal subjects to compare the structures of the extraocular muscles,motor nerve and cranium.Oral informed consent was obtained from each patient prior to any medical examination.Results A total of 1 1 members from 3 generations were investigated in this study,presenting with 4 cases of disease.The mode of inheritance of this family complied with the Mendelian autosomal dominant inheritance law.Clinical signs included disturbance of eye movement,deviation of eye position,ptosis,lack of Bell sign and positive reaction of passive pull test.In addition,unstable gait,improper body limb alignment,dysphasia and mental retardation were ohserved in 1 patient,which coincided with the diagnostic criteria of type 3 CFEOM.MRI results demonstrated that the levator palpebrae superioris,superior rectus and superior oblique muscle were clearly thinner,and the medial rectus,lateral rectus,inferior rectus muscle were thinning in the patients,showing significant differences in comparison with the normal controls(P＜O.05).The oculomotor and abducens nerves became thinner and even absent in the patients.Cranial MRI showed that Ⅲ-3 in the pedigree with callosum was shorter than that of the normal controls,suggesting that patient suffered from corpus callosum hypoplasia.Meanwhile,cranial MRI indicated the presence of cerebellar hypoplasia and the expansion of the fourth ventricle.Conclusions MRI demonstrates consistent abnormalities of the oculomotor nerves and abducens nerves in the affected individuals in this CFEOM 3 family,and some affected members exhibit two types of central nervous system abnormalities-corpus callosum and cerebellar hypoplasia.These findings suggest that CFEOM 3 is primarily a neuronal disease.

Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are attractive candidates for screening for risk of neural tube defects (NTDs). The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China.</p><p><b>METHODS</b>Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were genotyped for MTHFR C677T and MS A2756G polymorphisms. SPSS 11.5 software package was used for all analyses.</p><p><b>RESULTS</b>There was a significant difference for MTHFR genotype distribution for one site (C677T) between the case and control groups. The T allele frequencies were significantly higher in the case group than in the control group (55.9% vs. 35.3%, P < 0.05). A lack of association was observed for the MS A2756G polymorphism. There was an interaction between the maternal MTHFR C677T genotype and MS A2756G genotype.</p><p><b>CONCLUSION</b>Genetic interaction between MTHFR and MS genes raises the probability of neural tube defects.</p>

Surface electromyography characteristic analysis of frozen shoulder in three-dimensional motion / 国际生物医学工程杂志

ObjectiveTo analyze characteristic changes of shoulder muscles by investigating surface electromyographic regularity changes before and after the treatment of Frozen shoulders. Methods7 cases of frozen shoulders were selected, surface electromyography (sEMG) before and after treatment were recorded by AMT-8 EMG recorder. The collected data was processed using MATLAB software integrated EMG (IEMG) value were obtained. Then the IEMG data were statistically analyzed using Stata11.0 software and compared. Results ①The differences of abduction deltoid and infraspinatus muscle IEMG values before and after treatment were statistically significant(P ＜0.05), while IEMG values changes of biceps, triceps, pectoralis major, latissimus dorsi and trapezius before and after treatment were not statistically significant (P＞0.05); changes of adduction IEMG values of all muscles were not statistically significant (P＞0.05). ②Changes of flexion IEMG values of biceps before and after treatment were statistically significant (P＜0.05), while IEMG values changes of pectoralis major, infraspinatus muscle, latissimus dorsi, trapezius, deltoid, triceps before and after treatment were not statistically significant (P＞0.05). Changes of extension IEMG values of triceps before and after treatment were statistically significant (P＜0.05), while those of pectoralis major, infraspinatus muscle, latissimus dorsi, trapezius, deltoid and biceps were not statistically significant (P＞0.05). ③IEMG values of all the muscles during external rotation, internal rotation before and after treatment IEMG were not significantly different. Conclusion①After treatment, the outreach functions of infraspinatus and deltoid muscles were improved, while adduction functions of all muscles were not improved. ②Flexion function of biceps was improved significantly after treatment as well as extension function of triceps.③Extemal rotation, internal rotation functions of all muscles were not improved significantly.