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21.
Wessa M Karl A Flor H 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2005,167(1):56-65
This study examined verbal-subjective, peripheral and central physiological responses of motor vehicle accident (MVA) survivors
with subclinical posttraumatic stress disorder (PTSD), without PTSD symptoms as well as healthy controls. Seven persons of
each group were exposed to positive, neutral, accident-related and negative, non-accident-related slides. The verbal-subjective
ratings of the slides did not differ between the groups. In contrast to the verbal ratings of the trauma-related materials,
the behavioral and physiological responses showed a remarkable dissociation from these reports. The startle responses were
enhanced to accident-related slides only in the PTSD group and MVA survivors with PTSD had a significantly lower response
to the neutral slides than MVA survivors without PTSD. P200 was lower to positive, neutral and negative slides in the PTSD
group compared to both other groups. The late positive complex showed no group-related effects. The data suggest that traumatized
persons with PTSD show exaggerated emotional responses to trauma-related stimuli and reduced cognitive responses to several
types of stimuli that may interfere with the extinction of the emotional trauma memory. 相似文献
22.
23.
Mahmoud I. Abdel-Aziz Paul Brinkman Susanne J.H. Vijverberg Anne H. Neerincx John H. Riley Stewart Bates Simone Hashimoto Nazanin Zounemat Kermani Kian Fan Chung Ratko Djukanovic Sven-Erik Dahlén Ian M. Adcock Peter H. Howarth Peter J. Sterk Aletta D. Kraneveld Anke H. Maitland-van der Zee 《The Journal of allergy and clinical immunology》2021,147(1):123-134
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24.
Ilse M. van der Werf Sandra Jansen Petra F. de Vries Amber Gerstmans Maartje van de Vorst Anke Van Dijck Bert B. A. de Vries Christian Gilissen Alexander Hoischen Lisenka E. L. M. Vissers R. Frank Kooy Geert Vandeweyer 《European journal of human genetics : EJHG》2020,28(12):1726
Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.Subject terms: Genetics research, Neurological disorders 相似文献
25.
26.
Hao Wang Ingeborg Barisic Maria Loane Marie‐Claude Addor Linda M. Bailey Miriam Gatt Kari Klungsoyr Olatz Mokoroa Vera Nelen Amanda J. Neville Mary O'Mahony Anna Pierini Anke Rissmann Christine Verellen‐Dumoulin Hermien E.K. de Walle Awi Wiesel Katarzyna Wisniewska Lolkje T.W. de Jong‐van den Berg Helen Dolk Babak Khoshnood Ester Garne 《American journal of medical genetics. Part A》2019,179(4):595-601
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT. 相似文献
27.
Timo D Müller Anke Hinney André Scherag Thuy T Nguyen Felix Schreiner Helmut Schäfer Johannes Hebebrand Christian L Roth Thomas Reinehr 《BMC medical genetics》2008,9(1):85
Background
We have previously identified strong association of six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated gene) to early onset extreme obesity within the first genome wide association study (GWA) for this phenotype. The aim of this study was to investigate whether the obesity risk allele of one of these SNPs (rs9939609) is associated with weight loss in a lifestyle intervention program. Additionally, we tested for association of rs9939609 alleles with fasting blood parameters indicative of glucose and lipid metabolism. 相似文献28.
Ribasés M Gratacòs M Fernández-Aranda F Bellodi L Boni C Anderluh M Cavallini MC Cellini E Di Bella D Erzegovesi S Foulon C Gabrovsek M Gorwood P Hebebrand J Hinney A Holliday J Hu X Karwautz A Kipman A Komel R Nacmias B Remschmidt H Ricca V Sorbi S Wagner G Treasure J Collier DA Estivill X 《Human molecular genetics》2004,13(12):1205-1212
Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotrophic factor (BDNF) has been implicated in the regulation of food intake and body weight in rodents. We previously reported a strong association of the Met66 allele of the Val66Met BDNF variant with restricting AN (ANR) and low minimum body mass index in Spanish patients. Another single nucleotide polymorphism located in the promoter region of the BDNF gene (-270C>T) showed lack of association with any ED phenotype. In order to replicate these findings in a larger sample, we performed a case-control study in 1142 Caucasian patients with ED consecutively recruited in six different centers from five European countries (France, Germany, Italy, Spain and UK) participating in the 'Factors in Healthy Eating' project. We have found that the Met66 variant is strongly associated to all ED subtypes (AN, ANR, binge-eating/purging AN and BN), and that the -270C BDNF variant has an effect on BN and late age at onset of weight loss. These are the first two variants associated with the pathophysiology of ED in different populations and support a role for BDNF in the susceptibility to aberrant eating behaviors. 相似文献
29.
Wim H. J. P. Linssen Martin J. Van den Bent Han G. Brunner Petra J. E. Poels 《American journal of medical genetics. Part A》1994,51(1):81-82
We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome. © 1994 Wiley-Liss, Inc. 相似文献
30.
Krausse-Opatz B Schmidt C Fendrich U Bialowons A Kaever V Zeidler H Kuipers J Köhler L 《Microbial pathogenesis》2004,37(3):155-161
Chlamydia trachomatis (CT) as well as Chlamydophila pneumoniae (CP) cause chronic inflammatory diseases in humans. Persistently infected monocytes are involved in the pathogenesis by inducing mediators of inflammation. An in vitro system of chlamydial persistence in human peripheral blood monocytes (HPBM) was used to investigate prostaglandin E(2) (PGE(2)) production and the expression of the key enzyme for prostaglandin production, cyclooxygenase-2 (COX-2). PGE(2) production was determined by PGE(2)-ELISA of HPBM-culture supernatants. Cox-2 mRNA expression was measured by real-time RT-PCR of total RNA isolated from HPBM. Both, CT and CP, stimulated PGE(2) production of HPBM in vitro. Equivalent numbers of CT per host cell induced a higher PGE(2)-response compared to CP. The amount of synthesized PGE(2) depended on the chlamydial multiplicity of infection (MOI). Even at an MOI of 10 the amount of CT- and CP-induced prostaglandin, respectively, was lower than the amount of prostaglandin induced by E. coli lipopolysaccharide (LPS) at a concentration of 10microg/ml. In contrast to stimulation with LPS, Chlamydia-induced PGE(2) production as well as cox-2 mRNA decreased after day 1 post infection (p.i.). These data indicate that Chlamydia stimulate PGE(2) production in human monocytes. Since Chlamydia are often contaminated by mycoplasma, the influence of mycoplasma on the prostaglandin production was investigated additionally. Mycoplasma fermentans (MF) also stimulated PGE(2) production. The co-infection of mycoplasma and Chlamydia resulted in an additive effect in the production of PGE(2). Thus it is important to use host cells and Chlamydia free of mycoplasma contamination for the analysis of Chlamydia-induced prostaglandin production. 相似文献