Background The afferent signals of proprioceptor in extraocular muscles play an important role in controlling eye position and conjugate movement. Palisade ending in the extraocular muscles is the main source of proprioceptive information, and its abnormalities in structure and function may be associated with the occurrence of nystagmus. Objective This study was to observe the changes of palisade ending in the extraocular muscles of patients with congenital nystagmus ( CN) and discuss the probable mechanism. Methods Modified Kestenbaum procedure was performed on 10 patients with CN, and the extraocular muscle samples were collected during the operation. Normal extraocular muscle samples were obtained from the enucleated eyeballs after ocular wound. The ultrathin sections of extraocular muscles were prepared and double-staining by uranyl acetate and lead citrate. The morphological changes of the palisade ending of extraocular muscles were examined under the transmission electron microscopy. Written informed consent was obtained from each subject before surgery. Results The ultrastructure of palisade ending in the extraocular muscle of CN subjects showed the different degrees of alterations. The mild changes included the collapse and disconnection of external capsules and the nonhomogeneous electron-dense substracts. The degeneration and dissociation of myelin in nerve endings, swelling and vacuolation of mitochondria were also exhibited. Myeloid body was found in axon. In the severe patients,the necrosis of Schwann' s cells,dissolve of axon and disappear of capsules were seen. Conclusion The palisade ending of extraocular muscle in the patients with CN are obviously abnormal in comparison with normal one. These alterations are probably associated with the etiology and pathogenesis of CN.

In the present experimental study, cecal ligation and puncture significantly increased the myocardial injury assessed in terms of excess release of creative kinase-MB (CK-MB), cardiac troponin I (cTnI), interleukin (IL)-6 and decrease of IL-10 in the blood following 12 h of laparotomy procedure as compared to normal control. Also, a significant increase in protein expression levels of high-mobility group box 1 (HMGB1) and decreased phosphorylation of glycogen synthase kinase-3β (GSK-3β) was observed in the myocardial tissue as compared to normal control. A single independent administration of telmisartan (2 and 4 mg/kg) and AR-A014418 (1 and 2 mg/kg) substantially reduced sepsis-induced myocardial injury in terms of decrease levels of CK-MB, cTnI and IL-6, HMGB1, GSK-3β and increase in IL-10 and p-GSK-3β in the blood in sepsis- subjected rats. The effects of telmisartan at dose 4 mg/kg and AR-A014418 at a dose of 2 mg/kg were significantly higher than the telmisartan at a dose of 2 mg/kg and AR-A014418 1 mg/kg respectively. Further, no significant effects on different parameters were observed in the sham control group in comparison to normal. Therefore it is plausible to suggest that sepsis may increase the levels of angiotensin II to trigger GSK-3β-dependent signaling to activate the HMGB1/receptors for advanced glycation end products, which may promote inflammation and myocardial injury in sepsis-subjected rats.

In the present experimental study, cecal ligation and puncture significantly increased the myocardial injury assessed in terms of excess release of creative kinase-MB (CK-MB), cardiac troponin I (cTnI), interleukin (IL)-6 and decrease of IL-10 in the blood following 12 h of laparotomy procedure as compared to normal control. Also, a significant increase in protein expression levels of high-mobility group box 1 (HMGB1) and decreased phosphorylation of glycogen synthase kinase-3β (GSK-3β) was observed in the myocardial tissue as compared to normal control. A single independent administration of telmisartan (2 and 4 mg/kg) and AR-A014418 (1 and 2 mg/kg) substantially reduced sepsis-induced myocardial injury in terms of decrease levels of CK-MB, cTnI and IL-6, HMGB1, GSK-3β and increase in IL-10 and p-GSK-3β in the blood in sepsis- subjected rats. The effects of telmisartan at dose 4 mg/kg and AR-A014418 at a dose of 2 mg/kg were significantly higher than the telmisartan at a dose of 2 mg/kg and AR-A014418 1 mg/kg respectively. Further, no significant effects on different parameters were observed in the sham control group in comparison to normal. Therefore it is plausible to suggest that sepsis may increase the levels of angiotensin II to trigger GSK-3β-dependent signaling to activate the HMGB1/receptors for advanced glycation end products, which may promote inflammation and myocardial injury in sepsis-subjected rats.

OBJECTIVETo detect the COL1A1/PDGFB fusion transcripts and discuss its clinicopathological significance in dermatofibroscoma protuberans.

METHODSFormalin fixed, paraffin-embedded tumor specimens from 12 patients with DFSP were reviewed by light microscope and the expression of COL1A1/PDGFB mRNA resulting from the reciprocal translocation t(17;22) (q22;q13.1) was detected by one-step revers transcriptase-polymerase chain reaction. The following tumor specimens were included as controls: 2 fibrosarcoma, 2 malignant fibrous histocytoma, 3 leiomyosarcoma, 1 dermarofibroma and 1 nerve shealth tumor.

RESULTSThe COL1A1/PDGFB fusion transcripts were detected in 8 (67%) of 12 samples from patients with DFSP. Nucleotide sequence analysis using the PCR products confirmed that different regions of the COL1A1 gene, respectively, were fused with of PDGFB gene. No COL1A1/PDGFB fusion transcripts were detected in the control tumors.

CONCLUSIONDetection of specific COL1A1/PDGFB fusion transcripts in DFSP will help to diagnose the nature of DFSP and research the mechanism of its molecular histogenesis.

Adolescent ; Adult ; Aged ; Child ; Collagen Type I ; genetics ; Dermatofibrosarcoma ; genetics ; Female ; Genes, sis ; Humans ; Male ; Middle Aged ; Paraffin Embedding ; RNA, Messenger ; analysis ; Recombinant Fusion Proteins ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Skin Neoplasms ; genetics

Background: Highly pathogenic avian influenza viruses (HPAIVs) is an extremely contagious and high mortality rates in chickens resulting in substantial economic impact on the poultry sector. Therefore, it is necessary to elucidate the pathogenic mechanism of HPAIV for infection control. Objective: Gene set enrichment analysis (GSEA) can effectively avoid the limitations of subjective screening for differential gene expression. Therefore, we performed GSEA to compare HPAI-infected resistant and susceptible Ri chicken lines. Methods: The Ri chickens Mx(A)/BF2(B21) were chosen as resistant, and the chickens Mx(G)/ BF2(B13) were selected as susceptible by genotyping the Mx and BF2 genes. The tracheal tissues of HPAIV H5N1 infected chickens were collected for RNA sequencing followed by GSEA analysis to define gene subsets to elucidate the sequencing results. Results: We identified four differentially expressed pathways, which were immune-related pathways with a total of 78 genes. The expression levels of cytokines (IL-1β, IL-6, IL-12), chemokines (CCL4 and CCL5), type interferons and their receptors (IFN-β, IFNAR1, IFNAR2, and IFNGR1), Jak-STAT signaling pathway genes (STAT1, STAT2, and JAK1), MHC class I and II and their co-stimulatory molecules (CD80, CD86, CD40, DMB2, BLB2, and B2M), and interferon stimulated genes (EIF2AK2 and EIF2AK1) in resistant chickens were higher than those in susceptible chickens. Conclusions Resistant Ri chickens exhibit a stronger antiviral response to HPAIV H5N1 compared with susceptible chickens. Our findings provide insights into the immune responses of genetically disparate chickens against HPAIV.

Objective To isolate Japanese encephalitis virus (JEV) from mosquitoes collected in Tanghe county, Henan province and analyze the genotype of the newly isolated JEV strains and the characteristics of amino acid in the E gone. Methods Viruses were isolated from mosquitoes collected in 2004 and identified by biological, serological and molecular biological methods. PrM and E segments of the newly isolated JEV were amplified by RT-PCR, the PCR products were purified and sequenced. Multiple alignment, phylogenetic and amino acid (AA) analysis were carried out by Clustal X (1.8) program, MEGA 3.1 and GENEDOS (3.2).Results Totally 3722 mosquitoes were collected including Culex, Armigeres, Aedes, Anopheline. Three new JEV strains isolated from Cutex belonged to genotype 1. The homologue of nucleotide and amino acid of E gene between new JEV strains and live attenuated vaccine strain SA14-14-2 was 86.9%-87.7% and 95.2%-97.0%,respectively. Totally there were 12 common sites of amino acid differences in E gene between them. Conclusion Newly isolated viruses in Henan province belonged to JEV genotype 1. It suggests that the vaccine strain SA14-14-2 currently used for preventing JE is able to protect people from JEV infection, although there are some amino acid differences between them.

Objective To investigate the association of 13 single nucleotide polymorphism(SNP)sites in 6 phalange-bone development related genes[fibroblast growth factor receptor 2(FGFR2),indian hedgehog signaling molecule(IHH),Msh homeobox 1(MSX1),Runx family transcription factor 2(RUNX2),SRY-box transcription factor 9(SOX9),Wnt family member 5A(WNT5A)]with human index-ring finger length ratio(2D∶4D).Methods Digital cameras were used to take frontal photographs of the hands of 731 college students(358 males and 373 females)in Ningxia,and image analysis software was used to mark anatomical points and measure finger lengths of index(2th)and ring(4th);genotyping of 13 SNP sites(rs1047057,rs755793,rs41258305,rs3731881,rs3100776,rs12532,rs3821949,rs45585135,rs3749863,rs1042667,rs12601701,rs1829556,rs3732750)for 6 genes by multiplex PCR;One-Way ANOVA or independent sample t-test indirectly assessed the association between 2D∶4D and 13 SNP sites.Results Both left and right hand 2D∶4D were significantly higher in females than males in Ningxia college students(all P<0.01);no statistically significant differences in genotype and allele frequencies of the 13 SNP sites among different sexes(all P>0.05);among different sexes,male left hand 2D∶4D was significantly associated with the genotype of SOX9 gene rs12601701 site(P<0.05)and right hand 2D∶4D was significantly associated with the genotype of WNT5A gene rs1829556 site(P<0.05);the female right hand 2D∶4D was significantly associated with the MSX1 gene rs12532(P<0.01)and rs3821949(P<0.05)sites genotypes.Conclusion SOX9(rs12601701),WNT5A(rs1829556)and MSX1(rs12532 and rs3821949)gene polymorphisms may be associated with the formation of 2D∶4D in Ningxia population.

OBJECTIVETo obtain the genetic polymorphism of Y chromosomal short tandem repeat (Y-STR) loci in Ningxia Hui population.

METHODSBlood samples were collected from 150 unrelated healthy male individuals of Ningxia Hui ethnic group. Twelve Y-STR loci were amplified in one tube by using the PowerPlex System STR Amplification Kit, and the genotypes were determined using Genescan and Genotype software of ABI377 DNA sequencer and the frequency of alleles and haplotypes of Ningxia Hui ethnic was obtained.

RESULTSSeventy-five alleles were observed at 12 Y-STR loci. The frequency ranged from 0.0067-0.7067 and the gene diversity ranged from 0.4446-0.8877. Totally 148 different haplotypes were found, which were unique in 150 males. Two haplotypes were shared by 2 males respectively. The haplotype diversity was 0.9864.

CONCLUSIONThe 12 Y-STR loci are highly polymorphic in Ningxia Hui population and are suitable for genetics and forensic research.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Chromosomes, Human, Y ; genetics ; Ethnic Groups ; genetics ; Gene Frequency ; Haplotypes ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic

OBJECTIVETo compare the distribution of (CAG)n and (GGN)n repeats polymorphisms of androgen receptor (AR) gene between Hui and Han ethnic Chinese from Ningxia.

METHODSGenotypes of above repeats were determined with DNA sequencing method.

RESULTSThe distribution of (GGN)n repeats was significantly different between the two ethnic groups (P< 0.01), though no such difference was detected with (CAG)n repeats (P> 0.05). Particularly, Han Chinese women carrying 23 GGN repeats were significantly fewer (48.4%) than Hui women (64.7%, P=0.01).

CONCLUSIONThe distribution of GGN repeat is significantly differently among Hui and Han Chinese ethnics from Ningxia.

Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; ethnology ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Polymorphism, Genetic ; Population Groups ; genetics ; Receptors, Androgen ; genetics ; Trinucleotide Repeat Expansion ; Trinucleotide Repeats

Cohort study is one of the basic methods used in epidemiological research. With the development of the etiological analysis of complex diseases such as cardiovascular diseases, large natural population-based cohort study has become a popular topic in medical research. In the process of cohort development, one of the important issues is to ensure the efficiency and safety on data collection. As a database management system, with open source, free clinical research data collection and high quality, REDCap can widely be applied in large population-based cohort studies. This article summarizes the baseline survey and follow-up procedures on cohort studies and introduces a REDCap-system-based solution for data collection and management. Contents on the establishment of data working groups, data collection, cohort follow-up methods and field application are also discussed in this paper, in order to improve the efficiency of data collection and management in cohort study to help the development of cohort study in China.