Determination of phosphoglucomutase (PGM1), acid phosphatase (ACP), and esterase D (ESD) in human bloodstains by hybrid isoelectric focusing (HIEF)

Summary PGM1, ESD, and ACP were determined in bloodstain extracts by isoelectric focusing (IEF) with carrier ampholytes (CA) and HIEF. HIEF yields superior results in PGM typing from bloodstain extracts, whereas for ESD and ACP typing isoelectric focusing with carrier ampholytes seems to be the method of choice.     

Determination of phenotypes of phosphoglucomutase (PGM1) in bloodstains by cellulose acetate electrophoresis

Summary A good separation of PGM₁ isoenzymes from bloodstains has been obtained with an adapted Sonneborn method of electrophoresis on cellulose acetate. This method requires very small quantities of the examined material, a short time of electrophoresis, and is cheaper and simpler than hitherto described. A correct determination of PGM₁ phenotypes from bloodstains was easy up to 24 weeks. Occasionally it was possible to determine phenotypes in bloodstains as old as 47 weeks, and in one case even in bloodstains 126 weeks old. This method may be useful in the forensic serology for determination of PGM₁ phenotypes from bloodstains.

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Zusammenfassung Es wird eine gute Trennung der Isoenzymmuster von PGM₁ aus Blutspuren durch Adaptierung der Sonneborn-Methode mit der Celluloseacetat-Elektrophorese erreicht. Nur sehr kleine Mengen von untersuchtem Material und kurze Zeit der Elektrophorese sind bei dieser Methode erforderlich, die Technik ist billiger und einfacher als die bisher angewendete. Eindeutige Bestimmung der Phänotypen PGM₁ aus den Blutspuren bis zu 24 Wochen stößt auf keine Schwierigkeiten. Gelegentlich war die Phänotypenbestimmung auch in älteren Blutspuren möglich: bis 47 Wochen, und in 1 Fall sogar bis 126 Wochen. Die Methode kann in der forensischen Serologie bei der Blutspurenuntersuchung brauchbar sein.

     

二苯乙烯类化合物E1对2型糖尿病大鼠心肌病变的影响

目的 :观察灌胃给予二苯乙烯类化合物 (E1 )对实验性非胰岛素依赖型糖尿病 (NIDDM)大鼠血糖、血脂及心肌并发症的影响。方法 :通过尾静脉注射小剂量链佐星 (链脲佐菌素 ,streptozotocin ,STZ)损伤大鼠胰岛细胞造成其糖耐量异常 ,继而喂以高糖_高脂饲料 ,诱发动物肥胖形成的 2型糖尿病大鼠模型 ;电镜技术。结果 :灌胃给予二苯乙烯类化合物 (E1 )能明显降低NIDDM大鼠空腹血糖及血清甘油三酯、胆固醇含量 ,减轻NIDDM大鼠心肌病变程度。结论 :二苯乙烯类化合物 (E1 )具有显著的降血糖、降血脂作用 ,并可减轻NIDDM大鼠心肌病变程度。     

The effect of elapsed time on cardiac troponin-T (cTnT) degradation and its dependency on the cause of death

PurposeThe aim of the present study is to evaluate the effect of elapsed time on cardiac troponin-T degradation and its dependency on the cause of death.MethodsThe cases included in this study were divided into six groups depending upon the cause of death without any prior history of disease that died in the hospital and their exact time of death was known. The analysis involves extraction of the protein, separation by denaturing gel electrophoresis and visualization by Western blot.ResultsWestern blot data shows the rate of degradation of cTnT into lower molecular weight fragments with respect to time. In cases of control group the greatest amount of protein breakdown was observed within the first 64 h while in MI cases within first 6 h, the original band of cTnT (42 kDa) decreased markedly into seven major fragments, with 25 kDa & 20 kDa fragments being the most prominent. In burn group, at 41.40 h blot shows maximum fragmentation. In electrocution group the greatest amount of protein breakdown was observed within the first 50 Hrs. Within asphyxia cases, the original band of cTnT (42 kDa) decreased markedly into many major and minor fragments which continues up to 210 Hrs while the original band of cTnT (42 kDa) in poisoning cases decreased markedly into many major & minor fragments up to 140 h but after it blot shows only intact protein of very less intensity with few minor fragments.ConclusionIt can be observed that in case of death due to MI, the intact cTnI fragmented at a much faster rate than in burn, electrocution, control, poisoning and asphyxia group. Thus, the rate of fragmentation of intact cTnT into lower molecular weight fragments depends upon the cause of death.     

Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model

We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases. Single-strand conformation polymorphism and subsequent DNA sequencing analyses revealed that in one case, there was a variant, V207M of KCNQ1, a gene encoding a cardiac potassium channel. This case, a 40-year-old African male, was shown to have a heterozygous missense mutation (V207M), which has been previously reported to be ethnic-specific. The heterozygous V207M mutation was found in one case (0.23%) of 444 alleles from African individuals. We developed a knock-in mouse model carrier of the Kcnq1-V206M mutation, the mouse equivalent to the KCNQ1-V207M mutation identified in the victim. Significant prolongation of QT intervals was observed in the Kcnq1^V206M/V206M mice. These findings suggest that the KCNQ1-V207M mutation might be pathogenic and might have been associated with the cause of death in the present case.     

76例重症甲型H1N1流感的影像学表现及动态观察

目的：探讨重症甲型H1N1流感的胸部影像学表现。方法：回顾性分析76例重症甲型H1N1流感的影像学资料,将所有病例根据临床特点和病程分为三组：第1组（n=50）：门诊病例或是住院时间很短的病例;第2组（n=14）：临床上有急性呼吸衰竭但未用机械通气的病例;第3组（n=12）：急性呼吸衰竭同时需要机械通气的病例。观察所有患者平片、CT表现,并对病变的大小、形态、数目和分布加以分析。结果：重症甲型H1N1流感的主要影像学表现为双侧或单侧的磨玻璃样改变、实变或混合型病变,第1组以磨玻璃样改变为主,病变一般多发,可侵及所有肺叶,但主要发病部位为双肺下叶,多呈周围性分布;第2组以实变为主,可合并磨玻璃样改变或局灶性实变,恢复期可有少数病例呈纤维性修复;第3组以实变为主,可合并间质性改变,单纯磨玻璃样改变少见;少数病例可合并胸腔积液、心包积液和肺不张;第3组部分病例可伴有继发性气胸、纵膈气肿、皮下气肿以及霉菌感染,继发肺动脉高压、右心衰竭、肝脾淤血。结论：在不同的临床病程中患者有不同的影像学表现。轻症病例影像学表现比较轻微,恢复也比较彻底,一些重症病例可呈纤维性修复,而危重病例,尤其是需要机械性通气的病例其并发症尤其是气胸的发生概率较高,且病情变化比较反复,在病变进展期及时复查X线胸片以了解影像的变化,对于正确地评估病情、采取积极恰当的治疗措施将起到重要的指导作用。     

Relationship between the 1359 G/A polymorphism of the Central Cannabinoid Receptor 1 (CNR1) gene and susceptibility to cannabis addiction in a Turkish population

In this study, we investigate the existence of a possible genetic association between 1359 G/A polymorphism of the Central Cannabinoid Receptor 1 (CNR1) Gene CNR1 (p.Thr453Thr; rs1049353) single nucleotide polymorphism (SNP) and cannabis addiction. DNA samples used in this work are purified from venous leukocytes of 145 unrelated Turkish cannabis-dependent subjects and 140 Turkish control subjects. No significant difference is observed in genotype or allele frequencies of CNR1 1359 G/A polymorphism between these two groups. We also compared CNR1 1359 G/A polymorphism allele frequency distribution in our healthy Turkish population with other healthy populations. The comparison of healthy Turkish subjects with the healthy subjects from English-Irish, Chinese, European-American, African-American, Italian, German and Japanese populations revealed significant differences in allele frequencies. Data indicate that the 1359 G/A CNR1 polymorphism does not contribute to susceptibility to cannabinoid addiction in Turkish subjects. To the best of our knowledge, this is the first study on 1359 G/A CNR1 polymorphism in the Turkish population.     

甲型H1N1流感胸部薄层CT的诊断价值及限度

目的：分析甲型H1N1流感（S-OIV）动态胸部CT征象,探讨薄层CT在临床诊断中的价值。方法：回顾性分析经临床和实验室检查确诊的56例甲型H1N1流感患者的胸部CT的完整影像资料,分别由两位从事胸部CT诊断医师评估胸部常规CT表现,包括病变形态、密度、分布范围等特点,并与薄层CT扫描比较其影像表现的动态变化,确定诊断意见。结果：56例甲型H1N1患者中,薄层CT与常规CT扫描均有异常所见,薄层CT对病灶细节的显示优于常规CT检查。本组病例早期表现为磨玻璃密度影35例,病变进展期在磨玻璃影内出现类圆形或多发小片状实变24例,直接表现为肺叶或肺段的大片状炎性实变者13例,出现肺不张3例,肺间质增生2例,胸膜病变41例。本组CT动态变化特点是早期小片状渗出的磨玻璃状改变,进展期向大片状磨玻璃密度影和多发片状实变影过渡,最后常见有肺内病变范围减少,密度不均和肺间质性改变。结论：薄层CT可为鉴别具有甲型H1N1流感典型表现的患者与其它类型肺炎患者提供重要信息。薄层CT能反映甲型H1N1患者肺部病变的密度、形态和范围及其动态变化,对S-OIV的早期诊断和了解病变的全部影像动态变化过程具有较重要的意义,并可为临床诊疗提供可靠信息。     

The distribution of HLA DQA1 and D1S80 (pMCT118) alleles and genotypes in the populations of Galicia and Central Portugal

Summary Two South-West European populations (Galicia and Central Portugal) have been studied for the HLA DQA1 and D1S80 systems. The allele and genotype frequencies found have been compared with other previously published data. The distribution of the observed genotypes is in Hardy-Weinberg equilibrium for both systems. In the D1S80 system, no significant differences were found between both populations, although in the HLA DQA1 system the allele DQA1*0301 is twice as frequent in the Galician population. Other populations that have been compared showed a certain degree of divergence for the HLA DQA1 system. The combined chance of exclusion for both systems is 0.84 in Galicia and 0.85 in Central Portugal, and the combined power of discrimination is 0.993 in the 2 populations studied.     

The value of T1-weighted images in the differentiation between MS,white matter lesions,and subcortical arteriosclerotic encephalopathy (SAE)

Summary The aim of the study was to define reliable criteria for the differentiation of MR imaging between patients with MS and with vascular white matter lesions/SAE. We examined 35 patients with proven MS according to the Poser criteria and 35 patients with other white matter lesions and/or SAE. The result is that with MR a differentiation can be achieved provided that T1-weighted spin-echo sequences are included and the different pattern of distribution is considered. MS plaques are predominantly located in the subependymal region, vascular white matter lesions are mainly located in the water-shed of the superficial middle cerebral branches and the deep perforating long medullary vessels in the centrum semiovale. Infratentorial lesions are more often seen in MS. Confluence at the lateral ventricles is frequently accompanied by confluent abnormalities around the third ventricle, Sylvian aqueduct, and fourth ventricle, which is uncommon in SAE. In MS many lesions visible on T2-weighted images have a cellular or intracellular composition that renders them visible also on T1-weighted ones as regions with low signal intensity and more or less distinct boundary. Vascular white matter lesions and SAE mainly represent demyelination and can there-fore be seen on T2-weighted images, but corresponding low signal intensity lesions on T1-weighted images are uncommon. In some exceptions there are such lesions with low signal representing lacunar infarcts or widened Virchow-Robin-spaces.     

The use of the STRs HUMTH01, HUMVWA31/A,HUMF13A1, HUMFES/FPS,HUMLPL in forensic application: Validation studies and population data for Galicia (NW Spain)

The 5 tetranucleotide short tandem repeats, HUMTHOI, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and genotype frequencies are given. Compliance with the Hardy-Weinberg equilibrium was tested using different statistical parameters, with clear advantages resulting in favor of using the exact test (Guo-Thompson method) instead of conventional chi-square methods. Some statistical parameters of forensic interest (PD, CE, h) were also calculated. There were no mutations found in a total of 73 paternal meioses and 101 maternal meioses. Abnormal electrophoretic mobility was found in the AT-rich STR HUMF13AI under non-denaturing conditions and, therefore, the use of denaturing conditions is absolutely necessary. No "stutter" bands were found, although double peaks in the HUMFES/FPS system were observed in some samples. The advantage of using automated sequencers with fluorescent technology is also reported.