Factors Affecting the Response to First-Line Treatments in Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis

BACKGROUND AND PURPOSE: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is the most common type of autoimmune encephalitis. This study aimed to explore the possible factors affecting the response to first-line treatments in patients with anti-NMDAR encephalitis. METHODS: We enrolled 29 patients who were diagnosed as anti-NMDAR encephalitis between January 1, 2015, and June 30, 2018. They were divided into the remission and nonremission groups according to their response to first-line treatments. The demographics, clinical manifestations, main ancillary examinations, follow-up treatments, and prognosis of patients were recorded. The symptoms reported on in this study occurred before treatments or during the course of first-line treatments. RESULTS: There were 18 patients (62.07%) in the remission group and 11 patients (37.93%) in the nonremission group. Compared to the remission group, a higher proportion of the patients in the nonremission group exhibited involuntary movements, decreased consciousness, central hypoventilation, lung infection, and hypoalbuminemia. The nonremission group had a high incidence of increased intracranial pressure and significant elevations of the neutrophil-to-lymphocyte ratio in peripheral blood (NLR), aspartate aminotransferase, and fibrinogen. Six patients (54.55%) in the nonremission group received second-line immunotherapy. Only one patient (3.45%) died, which was due to multiple-organ failure. CONCLUSIONS: Anti-NMDAR-encephalitis patients with more symptoms—especially involuntary movements, disturbance of consciousness, central hypoventilation, and accompanying hypoalbuminemia and pulmonary infection—may respond poorly to first-line treatments. Positive second-line immunotherapy therefore needs to be considered. Admission to an intensive-care unit, increased cerebrospinal fluid pressure, and increased NLR might be the significant factors affecting the response to first-line treatments.

A case of severe fever with thrombocytopenia syndrome virus related encephalitis / 中华神经科杂志

The severe fever with thrombocytopenia syndrome virus (SFTSV),a new RNA virus,was discovered in recent years,which can lead to fever,thrombocytopenia and multiple organ dysfunction.Picks is the main media A case of a SFTSV-related encephalitis diagnosed by second-generation gene sequencing was reported here.The patient had fever,disturbance of consciousness,convulsions,with thrombocytopenia and enzymatic indicators increased significantly.After active anti-virus and supportive treatment,the prognosis was good.It is our aim to suggest that,in the epidemic season,when you meet thesimilar patients like this,you should consider the possibility of SFTSV-related encephalitis.Virus nucleic acid detection and second-generation gene sequencing technology are helpful for timely diagnosis and treatment and reducing mortality of the disease.

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease type 1: report of two cases / 中华神经科杂志

Transient central nervous system symptoms and reversible white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.We reported two cases of X-linked CharcotMarie-Tooth disease type 1 associated with reversible white matter lesions.Patient 1 is a 15-year old boy who presented with paroxysmal speech disorders and limb weakness at the beginning of the illness.He still walked unsteadily after discharge.Patient 2 is a 13-year old girl with transient numbness and weakness in her left extremities and slurred speech.She completely recovered.Both of them presented pes cavus without obvious family history or personal history.Both of them showed primary symptom of central nervous system with MRI abnormal findings in corpus callosum and periventricular areas.The electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy in patient 1 but no significant abnormalities in patient 2.The genetic analysis of both patients showed a pathogenic mutation in GJB1 gene.Clinicians should improve the recognition of X-linked Charcot-Marie-Tooth disease type 1.This type of disorders can behave as symptoms of nervous system firstly even if there is no other typical characteristics,such as peripheral nervous system involvement.

Quantitative study of MR diffusion tensor imaging of the tibial nerve and the common peroneal nerve in patients with Guillain-Barre syndrome / 中华放射学杂志

Objective To investigate the value of MR diffusion tensor imaging (DTI) quantitative parameters in evaluating the injury of the tibial nerve and the common peroneal nerve in patients with Guillain-Barre syndrome(GBS). Methods Sixteen healthy volunteers and sixteen patients with GBS underwent DTI examination of the tibial nerve and the common peroneal nerve. The denervation of skeletal muscles controlled by the tibial nerve and the common peroneal nerve was observed. The apparent diffusion coefficient (ADC) value, fractional anisotropy (FA) value, axial diffusivity (AD) value and radial diffusivity (RD) value were measured respectively,and diffusion tensor tractography (DTT) of the tibial nerve and the common peroneal nerve was performed. Between-groups comparison was made with the independent sample t test and receiver-operating characteristic (ROC) analysis was used to evaluate the diagnostic efficacy of the parameters. Results (1)The MR features of denervated skeletal muscles comprehend hyperintensity on T2WI SPAIR sequence and the instinct boundary, muscle atrophy occationally. (2)Compared with the healthy volunteer group, the ADC value of the tibial nerve and the common peroneal nerve of GBS group was increased and the FA value, AD value, RD value were decreased, and there was significant difference between the ADC value, FA value, AD value and RD value of GBS and volunteer groups respectively(P<0.05). The area under the curve (AUC) of FA value was higher than that of the corresponding ADC value in the tibial nerve and the common peroneal nerve. (3)DTT showed that the number of fibers decreased in patients with GBS compared to the normal volunteers. Conclusion MR can clearly show the denervated skeletal muscles controlled by the tibial nerve and the common peroneal nerve. The ADC value, FA value, AD value and RD value, the quantitative parameters of DTI, can evaluate the injury of the tibial nerve and the common peroneal nerve in patients with GBS.

Study on SNP Genotyping of Degraded DNA by Fluorescence-labeled Multiplex LDR-PCR Amplification / 中国医科大学学报

Objective In this study,a multiplex PCR amplification system was constructed based on fluorescent labeling PCR and LDR,to provide a new strategy for analyzing severely degraded DNA.Methods Eight SNP loci (rs10802248,rs10516197,rs10488372,rs2278945,rs4757318,rs4887255,rs4889002,and rs9304473) were selected.Their LDR probes and PCR primers of linked products were designed and synthesized.Ligase detection reaction,PCR amplification,and capillary gel electrophoresis (CEG) were performed to establish the multiplex LDR-PCR amplification system.Results The genotypes of these 8 loci were obtained simultaneously by the fluorescence-labeled multiplex LDR-PCR amplification method.The loci profiles obtained by fluorescence-labeled multiplex LDR-PCR amplification were in accordance with those obtained by direct sequencing of the polymorphic regions in samples from all individuals.By fluorescence-labeled multiplex LDR-PCR amplification,the 8 SNP loci were efficiently amplified from the severely degraded FFPET DNA.Conclusion Eight SNP loci results could be obtained simultaneously by using the multiplex LDR-PCR amplification system,which is a simple,efficient,and practical SNP genotyping method with accurate and reliable results for highly degraded samples.

Association and its forensic significance between HTR1A gene and the corresponding mental illness / 中国法医学杂志

HTR1A is a kind of receptor subtypes to express the most 5-HT in the brain of mammalian. Genetic variation in the gene through influencing the expression of receptors or changing the activity of the ligand binding to increase or decrease the function of 5-HT, so it played a key role in the pathogenesis of depression and other mental system diseases. The article reviewed the association between the genetic mutations of HTR1A and the corresponding mental system disease. Research the relationship of HTR1A gene and mood changes such as depression, panic, impulsive personality and its significance in forensic judicial authentication. To explore the causes of criminal mode from the perspective of gene - psychology - social model.

Detection of four DNA genetic marker systems to differentiate individuals in mixed seminal stain of two individuals / 中国法医学杂志

Objective To investigate personal identification of mixed seminal stain of two individuals, we combined the detection of genotyping autosomal, Y and X STR and sequencing mtDNA hypervariable Ⅰ (HV Ⅰ ) region. Methods We analyzed autosomal, Y and X STR with commercial kit and separating and sequencing HVⅠfragments of mixed seminal stain from two males by SSCP electrophoresis. Results Four genetic markers of the high amount sample can be obtained when mixed ratio is more than 1:10. When the proportion of two samples is close, the suspect could be excluded or, to some extent, identified by comparing with our results. Conclusion The combined detection of four genetic marker systems can, to some degree, solve the personal identification from mixed seminal stain of two individuals.

Expression levels and significance of semaphorin3A and matrix metalloproteinase 14 in NSCLC / 中华胸心血管外科杂志

Objective To investigate the correlation between the expression levels of semaphorin3A and MMP14,and their subsequent prognostic significance in nonsmall cell lung cancer(NSCLC).Methods The expression of semaphorin3A and MMP14 protein levels was analyzed in 94 cases of NSCLC tissues and in 80 cases of normal lung tissues,using immunohistochemistry(IHC).Correlation and survival analysis were used to further investigate their association and prognostic value.The correlation analysis using Pearson test,and log-rank test for survival analysis.Results The NSCLC tissues exhibited a lower expression of semaphorin3A and a higher expression of MMP14 than in the control lung tissues.The downregulation of semaphorin3A and upregulation of MMP14 may promote pleural invasion,lymph node metastasis,vascular invasion and proliferating cell nuclear antigen expression.The expression of semaphorin3A was correlated with the maximum diameter of tumor.There was a negative correlation between the protein expression levels of semaphorin3A and MMP14 in NSCLC tissues.Conclusion The data suggest that lower expression of semaphorin3A and a higher expression of MMP14 may promote occurrence and development in NSCLC and that the combined detection of semaphorin3A and MMP14 protein may be a helpful tool in predicting the prognosis of NSCLC.

Relationship between Genetic Polymorphism of Dopamine Receptor and Schizophrenia and Its Forensic Significance / 法医学杂志

Schizophrenia is a common but complex mental disorder affected by multiple factors. Forensic psychiatric assessment of schizophrenia involves evaluations on many aspects, but there is no effective biological identification index for schizophrenia. Researches indicate that dysfunction of dopaminergic neurotransmission plays an important role in the pathogenesis of schizophrenia. Our study reviews the classification, genetic structure of dopamine receptors and the recent pertinent studies between the dopamine receptors and schizophrenia and its forensic significance.

SNP in Differentially Methylated Region Upstream of H19 Gene in Chinese Kore-an Nationality / 法医学杂志

Objective To investigate SNP and distribution of haplotypes in differentially m ethylated region (DMR) upstream of H19 gene in Chinese Korean nationality in order to provide basic data for forensic application and population genetics research. Methods One hundred and one blood sam ples from unrelat-ed Chinese Korean individuals and 14 blood sam ples from 5 Chinese Korean intergenerational fam ilies which known genetic relationship were collected. The SNP in DMRupstream of H19 gene were investi-gated by PCR-cycle sequencing and McrB Cdigestion followed by PCR . The haplotypes detected by parentally im printed allele (PIA) m ethod and relevant genetic param eters were calculated. Results Thirteen SNPs (rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098) and five haplotypes were detected in 1 174 bp target product in DMRupstream of H19 gene, with 9 SNPs having high discrim ination power as good genetic markers. The average gene diversity (GD) of haplotypes was 0.714. The maternal haplotype was confirm ed correctly by PIAm ethod from McrB C-digested products of genom ic DNA. Conclusion High polym orphism sexist in DMRupstream of H19 gene in Chinese Korean nationality. And determ ination of the maternal haplotype could furtherm ore enhance the forensic identification efficiency of im printed gene.

Application of DNA extraction automation workstation in the forensic area / 中国法医学杂志

Automation workstation refers to a kind of fully automatic platform,which use the automatic technology to analysis,processe batches of biological samples.It can finish liquid handling,transfering,mixing and other operatious in short time,particularly suitable for PCR templates'preparation of large amount of biological samples.This article mainly discusses the basic patterns,methods and forensic applications of automated DNA extraction workstation,aimed at making the technology more widely applied in forensic DNA analysis.

Primary study on genetic polymorphism and population difference of locus DYF155S1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To understand the genetic polymorphism and population difference of locus DYF155S1 on human Y chromosome.</p><p><b>METHODS</b>Using minisatellite variant repeat mapping-polymerase chain reaction (MVR-PCR), automated fluorescence detection, DNA sequence analysis, the authors studied the locus DYF155S1 of two chimpanzee and 10 human subjects from each of the following 8 groups: Northern China Hans, Southern China Hans, the Zang (Tibetan) nationality, the Uighur nationality, Japanese, Korean, Black African, White African.</p><p><b>RESULTS</b>In this study, loci DYF155S1 and DYF155S2 have been detected. There is no difference in all of the samples on the locus DYF155S2; each sample contains one type 4 repeat unit, which is the ancestor gene of locus DYF155S1. On locus DYF155S1, each individual has its specific DNA sequence. The arrangement of the repeat units differs greatly in races: arrangement 3134 in the yellow race, arrangement 134 in the white race, and arrangement null3a1a4a4 in the black race were most common. The average number of the type 4 repeat unit in the white race is much higher than that in the yellow race. The authors also found two new types of repeat unit: type 6 and type 7. Type 6 is the result of the T22A substitution on type 1, which was observed in Japanese (3 samples). Type 7 is resulted from the T22A substitution on type 3, which was observed in the Zang nationality (4 samples), Southern China Hans(1 sample), and Korean (1 sample).</p><p><b>CONCLUSION</b>Locus DYF155S1 has great genetic polymorphism and obvious population difference. Its significance should receive more attention in forensic science and human genetics research.</p>

Polymorphic Analysis of DYS390 and DYS389Ⅰ/Ⅱ in Han Nationality in Liaoning Province in China / 中国医科大学学报

Objective: Our aim was to investigate the polymorphism and forensic meaning of the Y-chromosomal loci DYS390 and DYS389Ⅰ/Ⅱ in Han nationality in Liaoning Province. Methods: By amplifying these loci with polymorase chain reaction (PCR) followed by polyacrylamide gel electrophoresis and silver staining, the allele frequencies of these loci among 98 unrelated men of Han nationality were investigated. Results: Five alleles with different frequencies from 0.010 to 0.480 were detected of DYS390， and three alleles with different frequencies from 0.224 to 0.439 were detected of DYS 389Ⅰ. Locus DYS 389Ⅱ was detected in five alleles and the frequencies ranged from 0.020 to 0.367. The probability discrimination of these loci were 0.637, 0.644 and 0.723. These loci were found to generate at least 31 different haplotypes and the power of discrimination was 0.948. Conclusion: The loci DYS390 and DYS389Ⅰ/Ⅱ are very important when detect mixed samples, especially in deficiency cases of paternity test.

Polymorphisms of monoamine oxidase gene and its correlation with certain psychiatric disorders / 中国法医学杂志

Monoamine oxidase(MAO) is a kind of mitochondrial outer membrane enzyme that degrades biogenic amines,such as catecholamine and serotonin.It has a variety of biological functions,and can be found in various human tissues,including nervous system.Two MAO enzymes,MAO-A and MAO-B have been identified.MAO gene has polymorphisms,and some of which have a close relationship with certain psychic diseases,such as major depression,alcoholism,antisocial personality disorder and so on.MAO gene can acts as a new forensic individual identification and parentage testing genetic marker or legal psychiatry testing referential genetic marker.

Genetic polymorphism and population diversity of three SNP loci and haplotypes on human Y chromosome / 中国法医学杂志

Objective To study the genetic polymorphism and population diversity of three SNP loci and their haplotypes on human Y Chromosome. Methods Genetic polymorphisms, population diversity and hap-lotypes of these SNP loci, M4, M9 and M122, on human Y chromosome, in 140 wnrelated individuals from Zang Nationality in China, Japanese, Negroes and white men from southern Africa were studied by using PCR-RFLPs and DNA sequencing analysis. Results No polymorphism was found on M4 locus, each sample was M4A. All samples were wild type. 3 haplotypes were found. In all Negroes there was a wild haplotype of M4A/M9C/M122T. A haplotype of M4A/M 9G/M122T were found in 8 white men. No M122C gene was found. The haplotypes of M4A/M9C/M122T were mainly found in both Japanese and Chinese, The haplotype frequencies in Japanese and Zang population in china were 0.5 and 0.65 respectively. The probability of discrimination power (DP) and the excluding probability of paternity (EPP) were 0.6191 and 0.4994 respectively and the haplotype of M4A/M9C/M122C was absent. There was a remarkable difference (P

Analysis of four new variant alleles at FUT2 locus / 中国法医学杂志

Objective To investigate the molecular structure, gene expression and detecting methods of some new variant alleles at FUT2 locus. Method We examined four new variant alleles at FUT2 locus using PCR, RFLPs, gene recombination, DNA sequencing and techniques related to gene expression. Results Three missense gene mutations which were C664T, G868A and G760A respectively were found in three New Guinea individuals. Absence of the glycosyltransferase activity in all three enzymes coded by above three missense gene mutations were confirmed by gene expression techniques. Nonsense mutation A660T was found in one Chinese Han individuals. Changing of sequence of endonuclease SacI resulted from C664T and A660T can be detected by RFLP method. Weak peaks of variats might be missed if DNA sequencing was used to detect heterozygotes. RFLP method can't be used to determine specific site of variation within identified sequence of endonuclease. Conclusion All three FUT2 genes resulted from three mutations C664T, G868A, and G760A were non-secretor genes. More than two methods must be used for checking results each other when detect DNA sequence polymorphisms.

SPECIES IDENTIFICATION OF BLOOD STAINS USING ISOELECTRIC FOCUSING WITH AMPHOLINE MADE IN CHINA / 中国法医学杂志

The spceics identification by the hemoglobin band patterns in blood stains using isoelectric focusing with amphotine made in China is reported. Forty different sorts of bloodstain from human and animals were studied. Although the ability of species identification of hemogolbin band patterns in blood stains is lower than those in hemolysates, but the indentification of humen blood stain and the blood stains from most different spcies of animads were achieved. With the exception blood stain indintification between human adult foetus and monkey as well as between five groups in classes of bird and fish Human adult blood stain could be distinguished much easily from animal's blood stains but not from human foetus ,if the blood stairis were pretreated with PCMB. It is concluded that the species indentification of blood staine using isoelectice focusing with ampholinemade in china is possible.

Genetic polymorphisms of DYF155S1 locus on human Y chromosome in both the Han population, China and the Japanese population / 中国法医学杂志

Objective To study the genetic polymorphisms of DYF155S1 locus in 107 unrelated individuals both in the Han population, China and the Japanese population. Methods MVR-PCR, automated fluorescence detection and DNA sequence analysis were carried out for studying. Results Five types of repeat unit and one type newly named type 6 which was resulted from the T22A substitution on Type 1 were detected. Type 6 is monopolized by Japanese and may be regarded as a racial characteristic genetic marker. The common arrangement of the repeat units was 3134 which were detected at 73.44 % and 67.44 % in the Han and Japanese populations respectively. The abundance of arrangement of 3134 is the character of yellow race. Next to the arrangement of 3134 was the arrangement of 134 which was detected at 17.19% in the Han population while the arrangement of 6134 was detected at 16.28% in the Japanese population. The average number of type 4 unit at the 3'terminal was 8.8 in the Japanese population much lower than 12.5 in the Han population. Conclusion This study implies that DYF155S1 locus is an important geneticmarker with good genetic polymorphisms. The population difference between the Han and the Janpanes is significant.

Analysis of the genetic polymorphisms of the STR TPOX locus in two populations and study on three rare genes / 中国法医学杂志

The polymorphisms of the TPOX locus in two population were studied by PCR technique followed by the denatured PAGE and silver staining.Seven alleles were detected in each population of 100 unrelated Northern Chinese Han individuals and 93 unrelated African(Xhosa)individuals in South Africa respectively.No deviation from the Hardy Weinberg equilibrium was demonstrated.The power of discrimination(DP)and the exclusion probability(EPP)were 0 7978 and 0 4625;0 9141 and 0 6125 respectively.Comparison of gene frequency distribution showed that there is significant difference between different races.In addition,three rare genes were detected in we Africans(Xhosa)individuals.Sequencing proved that the only difference among them was the number of repeat unit in the region amplified by the specific primer pair.It might be due to the unequal exchange between chromosomes which was resulting in the production of a chimera.Our study showed that the TPOX locus has a high discriminating power which is important for the study of forensic medicine and human genetics\;