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  • 1
    In: Genes, Chromosomes and Cancer, July 2015, Vol.54(7), pp.433-443
    Description: The novel CKLF‐like Marvel Transmembrane Domain‐containing gene family (CMTM) consists of 8 members (). As little is known about the oncogenic impact of these genes, we aimed to systematically investigate the relevance of CMTMs to glioblastoma pathogenesis. We performed mRNA expression analyses and survival correlations in glioblastoma patients. Moreover, we analyzed the impact of RNAi‐based silencing and overexpression of CMTM family genes on tumor cell proliferation and invasion in vitro. CMTMs appeared to be widely regulated in the group of glioblastomas relative to non‐neoplastic brain (NB) tissue (significant upregulation for , , and and significant downregulation for and ). For , and , we found aberrant expression levels in individual tumors. Functionally, , , and promoted tumor cell invasion, while additionally enhanced cell proliferation. In a large clinically annotated dataset, higher and expression was significantly correlated with shorter overall survival. Our data thus suggest and as priority targets in glioblastomas. Using a human phosphokinase protein expression profiling assay, we can provide first insights into signalling of these two genes that might be conveyed by growth factor receptor, Src family kinase and WNT activation. © 2015 Wiley Periodicals, Inc.
    Keywords: Genetic Research – Investigations ; Stem Cells – Investigations ; Genes – Investigations ; RNA – Investigations ; Glioblastomas – Investigations;
    ISSN: 1045-2257
    E-ISSN: 1098-2264
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  • 2
    Language: English
    In: Social Psychiatry and Psychiatric Epidemiology, 2005, Vol.40(11), pp.855-864
    Description: Byline: Matthias C. Angermeyer (1), Peter Breier (2), Sandra Dietrich (1), Denis Kenzine (1), Herbert Matschinger (1) Keywords: public attitudes; treatment; help seeking; transcultural psychiatry; schizophrenia; major depression Abstract: Aim In order to examine whether there is a relationship between the state of mental health care and the acceptance of psychiatry, public attitudes toward psychiatric treatment in three countries where the reform of mental health care has progressed to a different degree will be compared. Methods Population surveys on public beliefs about mental illness and attitudes toward psychiatric treatment were conducted in Bratislava, Slovak Republic, and Novosibirsk, Russia. The data were compared with those from a population survey that had recently been carried out in Germany. In all three surveys, the same sampling procedure and fully structured interview were applied. Results Although respondents from all three countries were equally inclined to seek help from mental health professionals, those from Bratislava and Novosibirsk tended to recommend more frequently to address other medical or nonmedical professionals or members of the lay support system. In all three countries, psychotherapy was the most favored treatment modality, followed by psychotropic medication. Although natural remedies were more frequently recommended in Bratislava and Novosibirsk, meditation/yoga was more popular among the German public. Across all three countries, the endorsement of a brain disease as cause was associated with a greater willingness to seek help from medical professionals (psychiatrist, GP). Respondents who adopted biological causes tended to recommend psychotropic medication more frequently. Conclusion In countries with less developed mental health care systems, there appears to be a tendency of the public toward more frequently relying on helping sources outside the mental health sector and on traditional "alternative" treatment methods. However, it is our prognosis that with the progress of reforms observed, differences may further decrease. Author Affiliation: (1) Dept. of Psychiatry, University of Leipzig, Johannisallee 20, 04317, Leipzig, Germany (2) Dept. of Psychiatry, University Hospital, Ruzinov, Slovak Republic Article History: Registration Date: 06/06/2005 Accepted Date: 25/05/2005 Online Date: 12/10/2005
    Keywords: public attitudes ; treatment ; help seeking ; transcultural psychiatry ; schizophrenia ; major depression
    ISSN: 0933-7954
    E-ISSN: 1433-9285
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  • 3
    Language: English
    In: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 01 February 2004, Vol.38(3), pp.329-34
    Description: From October 1999 through January 2000, an Escherichia coli clonal group (designated "CgA") was isolated from the urine of nearly one-half of all women with urinary tract infections (UTIs) caused by trimethoprim-sulfamethoxazole (TMP-SMZ)-resistant E. coli in a California community. This study describes the prevalence of pyelonephritis caused by CgA in the same community. E. coli isolates were characterized by enterobacterial repetitive intergenic consensus (ERIC2) polymerase chain reaction (PCR), serogrouping, and pulsed-field gel electrophoresis. Fourteen (11%) of 130 women with UTIs received a diagnosis of pyelonephritis. CgA was associated with 4 (57%) of the 7 pyelonephritis cases caused by TMP-SMZ-resistant E. coli and was associated with none of the cases caused by TMP-SMZ-susceptible E. coli (P〈.02). Six (86%) of these TMP-SMZ-resistant E. coli isolates belonged to 2 distinct ERIC2 PCR-defined clonal groups, whereas all of the TMP-SMZ-susceptible E. coli strains had unique fingerprints (P〈.001). The prevalence of antimicrobial-resistant pyelonephritis in a community may be affected by a limited number of E. coli clonal groups.
    Keywords: Drug Resistance, Multiple, Bacterial ; Escherichia Coli -- Drug Effects ; Escherichia Coli Infections -- Microbiology ; Pyelonephritis -- Microbiology ; Trimethoprim, Sulfamethoxazole Drug Combination -- Pharmacology
    ISSN: 10584838
    E-ISSN: 1537-6591
    Source: MEDLINE/PubMed (U.S. National Library of Medicine)
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  • 4
    Language: English
    In: Foodborne pathogens and disease, 2007, Vol.4(4), pp.419-31
    Description: The increasing incidence of community-acquired urinary tract infections (UTIs) caused by antimicrobial resistant Escherichia coli, and observations of potential outbreaks of UTI-causing E. coli, suggest that food may be an important source of E. coli in women who develop UTI. We sought to determine if acquisition of and infection with a UTI-causing, antimicrobial resistant E. coli isolate is associated with a woman's dietary habits, specifically her preparation and consumption of retail meat products. Between April 2003 and June 2004, a case-control study was conducted. The dietary habits of women with UTI caused by an antimicrobial resistant E. coli (cases) and women with UTI caused by fully susceptible E. coli (controls) were compared. Broth microdilution was used to perform antimicrobial resistance testing. All E. coli isolates were genotyped by the pulsed-field gel electrophoresis (PFGE) method. Ninety-nine women met study criteria. Women who were infected with multidrug-resistant E. coli reported more frequent chicken consumption (adjusted OR = 3.7, 95% CI 1.1, 12.4). Women with UTI caused by an ampicillin- or cephalosporin-resistant E. coli isolate reported more frequent consumption of pork (adjusted OR = 3.2, 95% CI 1.0, 10.3 and adjusted OR = 4.0, 95% CI 1.0, 15.5, respectively). Frequent alcohol consumption was associated with antimicrobial resistant UTI. This study provides epidemiologic evidence that antimicrobial resistant, UTI-causing E. coli could have a food reservoir, possibly in poultry or pork.
    Keywords: Feeding Behavior ; Escherichia Coli -- Drug Effects ; Escherichia Coli Infections -- Drug Therapy ; Meat -- Microbiology ; Urinary Tract Infections -- Drug Therapy
    ISSN: 1535-3141
    E-ISSN: 15567125
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  • 5
    In: Pediatrics, July, 2000, Vol.106(1), p.115
    Description: Objective. The noninvasive [sup.13]C-urea breath test (UBT) is a reliable diagnostic method for detection of Helicobacter pylori infection in children, and it avoids invasive gastrointestinal endoscopy. In this study, we compared a noninvasive, newly developed fecal H pylori antigen test with the UBT. Methodology. One hundred sixty-two children (76 girls and 86 boys) were tested for H pylori infection using the UBT and a new antigen test in stool samples. The H pylori stool test is based on a sandwich enzyme immunoassay with antigen detection. Results. Twenty-four of the children (14.8%) with dyspepsia tested positive for H pylori according to the breath test results. In 22 of the 24 patients, H pylori antigen could be detected in the stool (sensitivity: 91.6%). Of 138 patients with negative UBT results, 136 were H pylori-negative in the stool test (specificity: 98.6%). Conclusions. The new, noninvasive, low-cost Hpylori antigen test in stool can replace the UBT for detection of H pylori infection in children with comparable reliability and accuracy. Pediatrics 2000;106:115-117; [sup.13]C-urea breath test, fecal analysis, antigen immunoassay, eradication, Helicobacter pylori.
    Keywords: Helicobacter Infections -- Diagnosis ; Breath Tests -- Evaluation ; Pediatric Diseases
    ISSN: 0031-4005
    E-ISSN: 10984275
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  • 6
    Language: English
    In: Radiology, 06/1978, Vol.127(3), pp.577-582
    Description: The chest radiographs of 24 patients with documented Legionnaires' disease were evaluated. Twenty-two of the 24 patients had positive findings for the disease initially. There was unilateral involvement in 68% and the most common lung shadows were poorly marginated round opacities (46%), diffuse patchy (25%) and peripheral opacities (21%). At peak, 70% of patients had a lobar shadow. Pleural effusions were present in 39% of cases but could be explained by underlying congestive heart failure or renal failure in 7 of the 9. Although the findings are not specific, the radiologist should consider this diagnosis in a patient with compatible clinical history, a pneumonia of obscure etiology, and these radiographic manifestations.
    Keywords: Legionnaires' Disease -- Diagnostic Imaging ; Lung -- Diagnostic Imaging ; Respiratory Tract Infections -- Diagnostic Imaging;
    ISSN: 0033-8419
    E-ISSN: 1527-1315
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  • 7
    Language: English
    In: BMC public health, 02 September 2015, Vol.15, pp.841
    Description: Understanding changes in dietary intake during puberty could aid the mapping of dietary interventions for primary prevention. The present study describes dietary changes from childhood to adolescence, and their associations with parental education, family income, child education, body mass index (BMI), pubertal onset and screen-time sedentary behaviour. Dietary data (n = 1232) were obtained from food frequency questionnaires at the 10- and 15-year follow-ups of the GINIplus birth cohort study. Intakes of 17 food groups, macronutrients and antioxidant vitamins, were described by a) paired Wilcoxon rank sum tests, comparing average intakes at each time-point, and b) Cohen's kappa "tracking" coefficients, measuring stability of intakes (maintenance of relative tertile positions across time). Further, associations of changes (tertile position increase or decrease vs. tracking) with parental education, family income, child education, pubertal onset, BMI, and screen-time, were assessed by logistic regression and multinomial logistic regression models stratified by baseline intake tertile. Both sexes increased average intakes of water and decreased starchy vegetables, margarine and dairy. Females decreased meat and retinol intakes and increased vegetables, grains, oils and tea. Males decreased fruit and carbohydrates and increased average intakes of meat, caloric drinks, water, protein, fat, polyunsaturated fatty acids (PUFAs), vitamin C and alpha-tocopherol. Both sexes presented mainly "fair" tracking levels [κw = 0.21-0.40]. Females with high (vs. low) parental education were more likely to increase their nut intake [OR = 3.8; 95 % CI = (1.7;8.8)], and less likely to decrease vitamin C intakes [0.2 (0.1;0.5)], while males were less likely to increase egg consumption [0.2 (0.1;0.5)] and n3 PUFAs [0.2 (0.1;0.5)]. Females with a higher (vs. low) family income were more likely to maintain medium wholegrain intakes [0.2 (0.1;0.7) for decrease vs. tracking, and 0.1 (0.0;0.5) for increase vs. tracking], and were less likely to decrease vitamin C intakes [0.2 (0.1;0.6)]. Males with high education were less likely to increase sugar-sweetened foods [0.1 (0.1;0.4)]. Finally, BMI in females was negatively associated with decreasing protein intakes [0.7 (0.6;0.9)]. In males BMI was positively associated with increasing margarine [1.4 (1.1;1.6)] and vitamin C intakes [1.4 (1.1;1.6)], and negatively associated with increasing n3 PUFA. Average dietary intakes changed significantly, despite fair tracking levels, suggesting the presence of trends in dietary behaviour during puberty. Family income and parental education predominantly influenced intake changes. Our results support the rationale for dietary interventions targeting children, and suggest that sex-specific subpopulations, e.g. low socio-economic status, should be considered for added impact.
    Keywords: Feeding Behavior ; Food Preferences ; Puberty ; Diet -- Statistics & Numerical Data
    E-ISSN: 1471-2458
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  • 8
    Language: English
    In: World Journal of Surgery, 2006, Vol.30(7), pp.1258-1264
    Description: Penetrating cardiac injury is a dramatic and lethal form of trauma. The majority of patients will die before reaching medical care, but for those who arrive at hospital alive, the diagnostic acumen and rapid surgical intervention of physicians and surgeons can lead to successful outcomes.A structured diagnostic and management approach is used in our trauma unit to deal with penetrating cardiac injury. A retrospective study of 117 patients with penetrating trauma to the heart was conducted over 32 months; the purpose of this study was to describe our protocol and review overall outcome with this type of injury. Demographic details, mechanism of injury, and mode of presentation were recorded. Mortality and morbidity data were collated and echocardiographic follow-up was performed.There were 109 male patients, mean age 29 years (range: 15–54 years) and 8 female patients, mean age 35 years (range: 23–56 years). Most patients (96/117) had sustained stab wounds, and the associated mortality was 15.6%. Twenty-one patients had sustained gunshot wounds (GSW), with a mortality of 81%. Gunshot wounds were significantly more likely to result in death (P ≤ 0.0001). Five patients sustained multiple cardiac wounds, and three of them died. The risk of death was not different between patients sustaining single or multiple cardiac wounds (P = 0.11). Eleven patients had thoracoabdominal injury, and 3/11 (27%) died; all of those that died had sustained GSW. The risk of death was not different between patients sustaining thoracoabdominal wounds and those with isolated thoracic injury (P = 1.0). Among the 51 patients with stab wounds who presented with cardiac tamponade, the mortality was only 8%. Compared to the other patients with stab wounds, cardiac tamponade conferred a significant survival advantage (P = 0.02).A high index of suspicion for penetrating cardiac injury and an understanding of the modes of presentation can lead to rapid diagnosis even by inexperienced junior staff. Such a structured approach to patients with penetrating trauma to the chest leads to early definitive management and acceptable results.
    Keywords: Medicine & Public Health ; Abdominal Surgery ; Cardiac Surgery ; General Surgery ; Thoracic Surgery ; Vascular Surgery ; Surgery;
    ISSN: 0364-2313
    E-ISSN: 1432-2323
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  • 9
    In: The New England Journal of Medicine, 2003, Vol.349(16), pp.1517-1525
    Description: Background An age-related progression from C-cell hyperplasia to medullary thyroid carcinoma is associated with various germ-line mutations in the rearranged during transfection ( RET ) proto-oncogene that could be used to identify the optimal time for prophylactic surgery. Methods In this European multicenter study conducted from July 1993 to February 2001, we enrolled patients who had a RET point mutation in the germ line, were 20 years of age or younger, were asymptomatic, and had undergone total thyroidectomy after confirmation of the RET mutation. Exclusion criteria were medullary thyroid carcinomas of more than 10 mm in greatest dimension and distant metastasis. Results Altogether, 207 patients from 145 families were identified. There was a significant age-related progression from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, nodal metastasis in patients whose RET mutations were grouped according to the extracellular- and intracellular-domain codons affected and in those with the codon 634 genotype. No lymph-node metastases were noted in patients younger than 14 years of age. The age-related penetrance was unaffected by the type of amino acid substitution encoded by the various codon 634 mutations. The codon-specific differences in the age at presentation of cancer and the familial rates of concomitant adrenal and parathyroid involvement suggest that the risk of progression was based on the transforming potential of the individual RET mutation. Conclusions These data provide initial guidelines for the timing of prophylactic thyroidectomy in asymptomatic carriers of RET gene mutations. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene are associated with thyroid cancer. These investigators studied presymptomatic patients 20 years of age or younger who had known RET mutations and had undergone prophylactic thyroidectomy. A significant age-related progression from C-cell hyperplasia to medullary thyroid carcinoma and to nodal metastasis was found in subgroups with certain mutations. Guidelines for the timing of thyroidectomy. Point mutations in the rearranged during transfection (RET) proto-oncogene1 have emerged as the molecular basis of an array of distinct clinical phenotypes2,3 as diverse as Hirschsprung's disease (aganglionosis of the submucosal and myenteric plexus of the colon), familial medullary thyroid carcinoma, and multiple endocrine neoplasia (MEN) type 2A (MEN-2A, characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma) and type 2B (MEN-2B, characterized by medullary thyroid carcinoma, pheochromocytoma, intestinal ganglioneuromatosis, and skeletal deformity).4 Encoding a receptor tyrosine kinase on chromosome 10q11.2, RET germ-line mutations in humans affect essentially four types of tissue, all of which originate from . . .
    Keywords: Point Mutation ; Carcinoma, Medullary -- Genetics ; Proto-Oncogene Proteins -- Genetics ; Receptor Protein-Tyrosine Kinases -- Genetics ; Thyroid Neoplasms -- Genetics;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
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  • 10
    Language: English
    In: PLoS Genetics, 2010, Vol.6(4), p.e1000916
    Description: Meta-analyses of population-based genome-wide association studies (GWAS) in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We also investigated if these results generalize by estimating the effects of these obesity loci in adults and in population-based samples including both children and adults. We jointly analysed two GWAS of 2,258 individuals and followed-up the best, according to lowest p-values, 44 single nucleotide polymorphisms (SNP) from 21 genomic regions in 3,141 individuals. After this DISCOVERY step, we explored if the findings derived from the extremely obese children and adolescents (10 SNPs from 5 genomic regions) generalized to (i) the population level and (ii) to adults by genotyping another 31,182 individuals (GENERALIZATION step). Apart from previously identified FTO, MC4R , and TMEM18 , we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85×10 −8 in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84×10 −7 ), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. The odds ratios for early-onset obesity were estimated at ∼1.10 per risk allele for both loci. Interestingly, the TNKS/MSRA locus has recently been found to be associated with adult waist circumference. In summary, we have completed a meta-analysis of two GWAS which both focus on extremely obese children and adolescents and replicated our findings in a large followed-up data set. We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8 , and TNKS / MSRA were robustly associated with early-onset obesity. We conclude that the currently known major common variants related to obesity overlap to a substantial degree between children and adults. ; Genome-wide association studies (GWAS) have successfully contributed to the detection of genetic variants involved in body-weight regulation. We jointly analysed two GWAS for early-onset extreme obesity in 2,258 individuals of European origin and followed-up the findings in 3,141 individuals. Evidence for association of markers in two new genetic loci was shown ( on chromosome 1q43–q44 and between on chromosome 8p23.1). We also re-identified variants in or near , , and to be associated with extreme obesity. In addition, we assessed the effect of the markers in 31,182 obese, lean, normal weight, and unselected individuals from population-based samples and showed that the variants near , and were consistently associated with obesity. For variants of , the obesity association was limited to children and adolescents. In summary, we detected two new obesity loci and confirmed that the currently known major common variants related to obesity overlap to a substantial degree between children and adults.
    Keywords: Research Article ; Genetics And Genomics -- Complex Traits ; Genetics And Genomics -- Genetics Of Disease ; Genetics And Genomics -- Medical Genetics
    ISBN: 0002773542000
    ISSN: 1553-7390
    E-ISSN: 1553-7404
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