Abnormal functional connectivity of the cores that control rapid eye movement sleep in idiopathic rapid eye movement sleep behavior disorder / 中华神经科杂志

Objective To investigate the abnormal functional connectivity (FC) between the cores (including sublaterodorsal nucleus (SLD) and ventrolateral periaqueductal gray matter (vlPAG)) and the whole brain in rapid eye movement sleep behavior disorder (RBD) by resting state functional magnetic resonance imaging (rfMRI).Methods A total of 41 subjects recruited in the Department of Neurology,the People's Hospital of Zhengzhou University were enrolled in this study according to international diagnosis criteria,including 20 with idiopathic RBD (iRBD group) and 21 age,sex-matched normal controls (control group).All subjects were examined by Hoehn-Yahr Staging,cognitive tests and rfMRI.Resluts HoehnYahr staging score was 0(0,0) in the iRBD group,which showed no significant difference from that in the control group (0 (0,0),Z =-1.820,P =0.069).The scores of Rey Auditory Verbal Learning Test (AVLT) N1,AVLT N2,Symbol Digital Modalities Test,Rey-Osterrieth Complex Figure Test-Copy were 3.80 ± 1.67,5.10 ± 1.77,33.00(31.25,34.00) and 22.00(20.25,26.00) respectively in the iRBD group,which were significantly lower than that in the control group (4.95 ± 1.28,t =2.482,P =0.017;6.43±1.16,t =2.848,P=0.007;33.00(29.50,35.50),Z=-3.792,P=0.000;35.00(33.00,36.00),Z =-2.351,P =0.019) respectively.The scores of Trail Making Test 1 (86.5 (70.0,100.0))and Trail Making Test 2 (197.0(180.5,211.5)) in the iRBD group were significantly higher than that in the control group (66.0(49.0,91.5),112.0(99.5,173.0) respectively,Z=-2.373,P=0.018;Z =-3.105,P =0.002).Compared with the control group,the FC analysis showed reduced connections from the right SLD to the bilateral cingnlate gyrus (t =-4.173) and bilateral frontal gyrus (t =-2.965(left),-3.662(right)),from the vlPAG to the left precentral-postcentral gyrus(t =3.930),and from the vlPAG to the right frontal gyrus (t =4.141) in the iRBD.There was no statistically significant difference from the left SLD to the whole brain.Conclusion There were abnormal FCs from the SLD and vlPAG to cognitive and motor areas in RBD patients,perhaps leading to clinical RBD symptoms such as cognitive deterioration and movement disorder.

Variants in the IFN ? transcription factor genes TBET, STAT1, STAT4, and HLX and the risk of pulmonary tuberculosis in a Colombian population: a case-control study / Variantes en los factores de transcripción para IFN ?, TBET, STAT1 , STAT4 y HLX , y el riesgo de desarrollar tuberculosis pulmonar en un estudio de casos y controles de una población colombiana

Introduction: Interferon gamma (IFN ? ) is the most potent cytokine involved in the control of Mycobacterium tuberculosis ( Mtb ), the etiological agent of human tuberculosis (TB). Patients with active TB present reduced levels of IFN ? , which may explain the lack of effective immunity against Mtb in these patients. The diminished expression of or functional alterations in trans-acting factors that regulate IFN ? gene expression may explain the reduced levels of IFN ? in TB patients. Objective: To investigate the relationships of genetic variants in the transcription factors TBET, STAT1, STAT4, and HLX to susceptibility/resistance to pulmonary TB. Materials and methods: Eight candidate single-nucleotide polymorphisms (SNPs) were selected, and genotyped in 466 unrelated pulmonary TB patients and 300 healthy controls from Colombia, and the allelic and genetic associations with TB were analyzed. Results: The results indicate that no SNP in the transcription factors studied is associated with TB. However, polymorphism rs11650354 in the TBET gene may be associated with a decreased risk of TB; the TT genotype was significantly associated with TB protection in a recessive genetic model (OR=0.089, 95% CI: 0.01-0.73, p=0.0069), although this association was not maintained after multiple test correction (EMP2= 0.61). Conclusion: In this study, the rs11650354 variant of TBET was suggested to promote resistance to TB in a Colombian population. A future replication case-control study using additional samples will be necessary to confirm this suggestive association.

Introducción. El interferón gama (IFN ? ) es la citocina más potente para controlar la infección por Mycobacterium tuberculosis , el agente etiológico de la tuberculosis humana. Los pacientes con tuberculosis activa presentan reducción de los niveles de IFN ? , lo cual parece explicar la inmunidad poco efectiva contra el bacilo. La disminución de su expresión o alteraciones funcionales de los factores transactivadores del promotor del gen de IFN ? , podrían explicar la reducción de los niveles de IFN ? en los pacientes con tuberculosis. Objetivo. Determinar la asociación de variantes genéticas en los factores de transcripción TBET STAT1, STAT4 y HLX con sensibilidad o resistencia a tuberculosis pulmonar. Materiales y métodos. Se seleccionaron ocho polimorfismos de un solo nucleótido ( Single-Nucleotide Polymorphism , SNP) y se estableció su genotipo, en 466 pacientes con tuberculosis pulmonar y 300 controles sanos en Colombia; además, se hizo un análisis de asociación alélica y genética. Resultados. Los resultados indican que los SNP de los factores de transcripción estudiados no están asociados con tuberculosis; sin embargo, el polimorfismo rs11650354 en TBET puede estar implicado en la disminución de riesgo de tuberculosis. El genotipo TT de TBET se asoció significativamente con protección contra tuberculosis usando un modelo genético recesivo (OR=0,089; CI 95% : 0,01-0,73; p=0,0069); sin embargo, la corrección mediante pruebas múltiples de ajuste abolió esta asociación ( Empirical P Value, EMP2=0,61). Conclusión. En este estudio se sugiere un efecto de la variante rs11650354 de TBET sobre la resistencia a la tuberculosis en la población colombiana. Es necesario desarrollar un estudio de replicación usando muestras adicionales para confirmar esta asociación sugestiva.

Correlation of human β-defensin 1 gene polymorphism with fungal susceptibility to severe sepsis / 中华创伤杂志

Objective To investigate the correlation between gene polymorphism within human β defensin 1 (DEFB1) and fungal susceptibility to severe sepsis through case-control association study.Methods A total of211 patients with severe sepsis in ICU were enrolled in the present case control study. Sepsis in this study was diagnosed according to the definition of American College of Chest Physicians/Society of Critical Care Medicine Consensus Conference in 1992 and 2002. Based on the development of fungal infection during ICU stay, all 211 patients were divided into fungal infection group (Group Ⅰ) and control group (Group C). Alleles and genotypes of-1816A/G, -390A/T, -52A/G, -44C/G and-20A/G within DEFB1 gene were assayed in all 211 patients by means of DNA direct sequencing, Allele-specific PCR amplifications or high-throughput site-specific TaqMan assay. Genetic analysis was employed to calculate the distribution frequency of haplotypes. The correlation between the genomic variations (allele,genotype and haplotype) and fungal infection was analyzed by Chi-square test or Fisher's exact test.Odds ratio (OR) was employed to reflect the correlation degree of genetic factor with fungal susceptibility to severe sepsis. Results Group Ⅰ enrolled 80 patients, of whom 43 pstients were male, at age of (60.81 ± 18.30) years. Group C enrolled 131 patients, of whom 80 patients were male, at mean age of (60.42 ± 17.03) years. No significant difference was found between two groups in aspect of gender and age (P＞0.05). The genetic locus of -1816A/G, -390A/T, -52A/G, -44C/G and -20A/G of both groups were in agreement with Hardy Weinberg equilibrium. No significant difference was found between two groups in the distribution of allelic frequencies and genotype frequencies (P ＞0.05). No significant difference was found in the distribution frequency of four common haplotypes of the above five genetic locus such as AAACG, ATGCA, GTGGG and ATACG (all P ＞ 0.05). Conclusions Genetic locus of -1816A/G, -390A/T, -52A/G, -44C/G and-20A/G within DEFB1 gene have no correction with fungal infections in severe sepsis, suggesting that DEFB1 gene polymorphism may not serve as a key genetic marker for the predisposition to fungal infection in severe sepsis.

Efeito dose-resposta de fatores de risco para a doença isquêmica do coração em população masculina / Dose-Response Effect of Risk Factors for Ischemic Heart Disease in Males

PURPOSE: Several authors have reported hypertension, smoking and hypercholesterolemia as independent risk factors for ischemic heart disease (IHD), but few of them have investigated the existence of a linear gradient related to the levels of these exposures and IHD. We evaluated the effect of different levels of these exposures and IHD after adjusting for known confounders. METHODS: The study was designed as a case-control and the period of data collection was from March/93 until February/94. The sample was composed of 547 men aged 30-69 years living in the city of São Paulo. We compared 192 cases with 355 controls (172 neighbourhood controls and 183 hospital controls). Logistic regression was the statistical method used to analyse of the data. RESULTS: The results showed a linear gradient for known duration of hypertension, known duration of hypercholesterolemia and daily number of cigarettes smoked. The variables known duration of diabetes mellitus and duration of smoking did not present such a tendency. CONCLUSION: Some methodological issues are presented to explain the absence of a linear gradient for known duration of diabetes mellitus and duration of smoking. It is concluded that the dose-response effect detected for known duration of hypertension, known duration of hypercholesteremia and daily number of cigarettes consumed were independent of the presence of major risk factors for ischemic heart disease.