cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5120926
title: Supplementary Material for: What Are the Consistent Predictors of Generic and Specific Post-Stroke Health-Related Quality of Life?

description: <i>Background:</i> In order to improve post-stroke health-related quality of life (HRQOL), it is crucial to focus scarce health care and research resources towards its consistent determinants. Disparities in reported determinants of post-stroke HRQOL may be due to the use of different instruments (generic or specific) in different populations. This is the first study to identify factors which consistently influenced both generic and specific post-stroke HRQOL in the same study population. <i>Methods:</i> One hundred consecutive consenting stroke survivors were assessed using the stroke levity scale (SLS), modified Rankin scale (mRS), SF-36 and HRQOL in stroke patients (HRQOLISP) measure. Employing multiple regression analysis (R<sup>2</sup> = 0.63), potential predictors were sought among age, gender, socioeconomic class (SEC), aphasia, post-stroke duration, side, type and number of strokes, SLS, mRS, social support and Likert scale-graded responses to laughter and negative-feeling frequency. <i>Results:</i> Gender, SEC and stroke type had no significant impact on HRQOL. The consistent independent statistical predictors of several facets of generic and stroke-specific HRQOL were stroke severity, disability, laughter and negative-feeling frequencies. <i>Conclusions:</i> While stroke severity, a component of physical health, impaired psychological health, psychological dysfunction in turn negatively influenced physical and other domains of health, thereby creating a vicious cycle. These multidirectional interactions may involve neural, social and existential mechanisms which remain to be confirmed, elucidated and exploited.
DOI: 10.6084/m9.figshare.5120938.v1
title: Supplementary Material for: Primary Metastatic Leiomyosarcoma of the Fallopian Tube: A Rare Case Report

description: <i>Background: </i>Leiomyosarcoma of the fallopian tube is an extremely unusual gynecologic neoplasm. Since 1886, only 19 of about 35 sarcomas of the fallopian tube have been identified as leiomyosarcomas. As such, clinical diagnosis and therapy management are difficult. <i>Case Report: </i>We report on the case of a 59-year-old woman with leiomyosarcoma of the fallopian tube and liver metas-tases at the time of diagnosis. After initial tumor debulk-ing, she received palliative chemotherapy with gemcitabine 900 mg/m<sup>2</sup> (d1+8) and docetaxel 100 mg/m<sup>2</sup> (d8) (q21). For additional bone metastases, she started local radiation plus bisphosphonates (q28). After 2 cycles of chemotherapy, the disease progressed, and the patient died within 8 months of diagnosis. A review of the literature is given. <i>Conclusions: </i>Primary metastatic leiomy-osarcoma of the fallopian tube is a progressive disease with limited therapy options. For better prognostic evaluation and disease management in such rare cases, it is important to report and compare more cases regarding course of disease and outcome.
DOI: 10.6084/m9.figshare.5120923
title: Supplementary Material for: Krieg im Zuhause – ein Überblick zum Zusammenhang zwischen Kriegstraumatisierung und familiärer Gewalt

description: Die traditionelle Annahme eines «Zyklus der Gewalt» legt einen Zusammenhang zwischen Misshandlungserfahrungen im Kindesalter und der späteren Ausübung von Gewalt nahe. Die vorliegende narrative Übersicht beschäftigt sich mit der Frage, inwieweit die Erfahrung kriegerischer Gewalt mit einer Zunahme von Gewalt in Familien und insbesondere von Kindesmisshandlung einhergeht. Dabei werden zum einen Erkenntnisse herangezogen, die aus der Forschung mit Kriegsveteranen und noch aktiven Rekruten resultieren, und zum anderen Studien, die mit zivilen Populationen, Erwachsenen und Kindern in von Krieg betroffenen Ländern durchgeführt wurden. Verschiedene Untersuchungen legen eine Häufung von Beziehungsgewalt bei Männern, die aus militärischen Einsätzen zurückgekehrt sind, nahe und machen darüber hinaus deutlich, dass nicht die erlebten Kämpfe allein, sondern vor allem daraus resultierende psychische Störungen mit einer Zunahme von Gewalt in der Partnerschaft zusammenhängen. Zur Situation der Kinder in Familien mit Kriegsveteranen ist die derzeitige Studienlage unzureichend. Es ist unklar, ob die berichteten Verhaltensauffälligkeiten bei diesen Kindern eine Sekundärtraumatisierung darstellen, die mit der väterlichen Kriegstraumatisierung zusammenhängt, oder mit der vermehrten Gewaltanwendung durch den traumatisierten Vater zusammenhängt. Zu berücksichtigen sind hier auch Arbeiten, die zeigen, dass – häufiger als die Veteranen selbst – auch die zu Hause verbleibenden Mütter emotionale und körperliche Gewalt gegen ihre Kinder ausüben. Befunde zu Familien, die in Kriegsgebieten leben, stützen die Annahme, dass sich kriegerische Gewalt auf die familiäre Ebene überträgt; sie zeigen, dass der Krieg mitsamt seinen sozialen Begleitumständen Familien besonders vulnerabel für eine häufigere Anwendung von Gewalt gegen Kinder macht. Aus den zusammengetragenen Befunden resultieren wichtige Implikationen für die Behandlung kriegstraumatisierter Familien und für die Prävention weiterer Gewalt bei den Betroffenen.
DOI: 10.6084/m9.figshare.5120929.v1
title: Supplementary Material for: Allelic Heterogeneity in Genetic Association Meta-Analysis: An Application to <i>DTNBP1</i> and Schizophrenia

description: <i>Background/Aims:</i> Meta-analysis of genetic association studies is a useful approach when individual investigations do not yield studywise significant results but the evidence across studies is modest and homogeneous. Current meta-analysis methods account for heterogeneity by down-weighting studies as a function of between-study variance. We contend that current approaches may obscure interesting phenomena in genetic association data. However, an appropriate approach to examining heterogeneity across studies is lacking. <i>Methods:</i> We develop a novel approach, based on the EM algorithm, to detect allelic heterogeneity, identify subpopulations and assign studies to those subpopulations. We then apply these methods to the association between <i>DTNBP1</i> and schizophrenia (Scz), one of the most studied relationships in complex disease genetics. We examined 32 published and unpublished population and family-based association studies containing up to 14 SNPs spanning the <i>DTNBP1</i> locus. <i>Results:</i> We explored heterogeneity in several ways including meta-regression and approaches aimed at exploring the mixture of heterogeneous studies at a particular SNP. We found significant evidence for a mixture of association distributions at multiple loci. <i>Conclusion:</i> We propose a novel approach that is broadly applicable and may be useful in large scale genetic association meta-analyses to detect significant allelic heterogeneity.
DOI: 10.6084/m9.figshare.5120932.v1
title: Supplementary Material for: Parsing the Effects of Individual SNPs in Candidate Genes with Family Data

description: We introduce a stepwise approach for family-based designs for selecting a set of markers in a gene that are independently associated with the disease. The approach is based on testing the effect of a set of markers conditional on another set of markers. Several likelihood-based approaches have been proposed for special cases, but no model-free based tests have been proposed. We propose two types of tests in a family-based framework that are applicable to arbitrary family structures and completely robust to population stratification. We propose methods for ascertained dichotomous traits and unascertained quantitative traits. We first propose a completely model-free extension of the FBAT main genetic effect test. Then, for power issues, we introduce two model-based tests, one for dichotomous traits and one for continuous traits. Lastly, we utilize these tests to analyze a continuous lung function phenotype as a proxy for asthma in the Childhood Asthma Management Program. The methods are implemented in the free R package fbati.
DOI: 10.6084/m9.figshare.5120917
title: Supplementary Material for: The Toll-Like Receptor 4 D299G and T399I Polymorphisms Are Associated with Crohn’s Disease and Ulcerative Colitis: A Meta-Analysis

description: <i>Background:</i> Some studies have reported that Toll-like receptor 4 <i>(TLR4)</i> D299G and T399I polymorphisms are associated with increased Crohn’s disease (CD) and ulcerative colitis (UC) risk in the Caucasian population. However, the results have been inconsistent. <i>Methods:</i> A systemic review of the published data (16 studies with 8,387 cases and 7,013 controls for D299G; 8 studies with 3,881 cases and 1,861 controls for T399I) was undertaken and a meta-analysis was performed to test whether <i>TLR4</i> D299G and T399I polymorphisms were associated with CD or UC susceptibility and whether 299Gly carriage was associated with phenotypes of CD patients. <i>Results:</i> The <i>TLR4 </i>299Gly allele showed a significant association with CD and UC in the Caucasian population (OR 1.29, 95% CI 1.08–1.54, and OR 1.28, 95% CI 1.08–1.51, respectively). Similar association was detected between the T399I polymorphism and susceptibility to CD and UC (OR 1.37, 95% CI 1.12–1.68, and OR 1.46, 95% CI 1.13–1.88, respectively). However, no significant association was identified between CD phenotypes and 299Gly carriage. <i>Conclusion:</i> The meta-analysis showed that <i>TLR4</i> D299G and T399I confer a significant risk for developing CD and UC in Caucasians. Additional well-powered studies of the association between <i>TLR4</i> variants and UC are needed.
DOI: 10.6084/m9.figshare.5120920
title: Supplementary Material for: RAGE Does Not Affect Amyloid Pathology in Transgenic ArcAβ Mice

description: <i>Background:</i> Alzheimer’s disease (AD) is characterized by brain accumulation of the amyloid-β peptide (Aβ) that triggers a cascade of biochemical and cellular alterations resulting in the clinical phenotype of the disease. While numerous experiments addressed Aβ toxicity, the mechanisms are still not fully understood. The receptor for advanced glycation end products (RAGE) binds Aβ and was suggested to be involved in the pathological processes of AD. <i>Objective:</i> Our purpose was to assess the effect of <i>RAGE</i> deletion on Aβ-related pathology. <i>Methods:</i> We crossed RAGE knockout (RAGE<sup>–/–</sup>) mice with transgenic mice harboring both the Swedish and Arctic Aβ precursor protein mutations (arcAβ mice). We assessed Aβ levels, Aβ brain deposition, Aβ-degrading enzyme activities, Aβ precursor protein expression and processing, number and morphology of microglia as well as cognitive performance of 6- and 12-month-old RAGE<sup>–/–</sup>/arcAβ, RAGE<sup>–/–</sup>, arcAβ and wild-type mice. <i>Results:</i> RAGE<sup>–/–</sup>/arcAβ mice had significantly lower levels of SDS- and formic-acid-extracted Aβ in the cortex and hippocampus, with concomitantly increased activity of insulin-degrading enzyme at the age of 6 months. However, <i>RAGE </i>deletion could neither prevent the decline in cognitive performance nor the age-related cerebral accumulation of Aβ peptide. Furthermore, histological analysis revealed no difference in the microglia-occupied brain areas or microglial morphologies between RAGE<sup>–/–</sup>/arcAβ and arcAβ mice. <i>Conclusions:</i> Together, our results indicate that while the absence of RAGE was associated with increased insulin-degrading enzyme activity in the brain, it was not sufficient to prevent or ameliorate cognitive deterioration, Aβ accumulation and microglial activation in the arcAβ mouse model of AD.
DOI: 10.6084/m9.figshare.5120926.v1
title: Supplementary Material for: What Are the Consistent Predictors of Generic and Specific Post-Stroke Health-Related Quality of Life?

description: <i>Background:</i> In order to improve post-stroke health-related quality of life (HRQOL), it is crucial to focus scarce health care and research resources towards its consistent determinants. Disparities in reported determinants of post-stroke HRQOL may be due to the use of different instruments (generic or specific) in different populations. This is the first study to identify factors which consistently influenced both generic and specific post-stroke HRQOL in the same study population. <i>Methods:</i> One hundred consecutive consenting stroke survivors were assessed using the stroke levity scale (SLS), modified Rankin scale (mRS), SF-36 and HRQOL in stroke patients (HRQOLISP) measure. Employing multiple regression analysis (R<sup>2</sup> = 0.63), potential predictors were sought among age, gender, socioeconomic class (SEC), aphasia, post-stroke duration, side, type and number of strokes, SLS, mRS, social support and Likert scale-graded responses to laughter and negative-feeling frequency. <i>Results:</i> Gender, SEC and stroke type had no significant impact on HRQOL. The consistent independent statistical predictors of several facets of generic and stroke-specific HRQOL were stroke severity, disability, laughter and negative-feeling frequencies. <i>Conclusions:</i> While stroke severity, a component of physical health, impaired psychological health, psychological dysfunction in turn negatively influenced physical and other domains of health, thereby creating a vicious cycle. These multidirectional interactions may involve neural, social and existential mechanisms which remain to be confirmed, elucidated and exploited.
DOI: 10.6084/m9.figshare.5120911
title: Supplementary Material for: Dynamic Expression and Heterogeneous Intracellular Location of En-1 during Late Mouse Embryonic Development

description: Engrailed-1 (En-1) is a transcription factor involved in the development of the midbrain/hindbrain during mouse early embryogenesis. Although En-1 is expressed from embryogenesis to adulthood, there has been no detailed description of its expression during late mouse embryonic development. Here we report the expression pattern of En-1 in the mouse embryo from E10.5 to the neonatal state. With immunohistochemistry we found that En-1 was expressed in the central nervous system (CNS) from E10.5 to the neonatal state, mostly restricted to the midbrain/hindbrain junction. Outside the CNS, En-1 is dynamically expressed in several neural crest-associated structures including the cranial mesenchyme, the mandibular arches, the vagus nerve, the dorsal root ganglia, the sympathetic ganglia, the somites, the heart and the cloaca. Additionally, we found that in the CNS, most of the En-1 was located in the nuclei, while outside the CNS, En-1 was mainly expressed in the cytoplasm. These findings provided additional evidence that En-1 may be involved in the development of neural crest cells.
DOI: 10.6084/m9.figshare.5120914
title: Supplementary Material for: A Six-SNP Haplotype of <i>ADAM33 </i>Is Associated with Asthma in a Population of Cartagena, Colombia

description: <i>Background:</i> A disintegrin and metalloprotein-33 <i>(ADAM33)</i> participates in the bronchial remodeling process in asthma, and genetic analyses pointed it out as a candidate gene in asthma. <i>Methods:</i> To analyze the association between <i>ADAM33</i> and asthma and total and mite-specific IgE levels in a population of the Caribbean Coast of Colombia, we genotyped 6 single-nucleotide polymorphisms of <i>ADAM33</i> in 429 asthmatics, 401 controls and 116 family trios using fluorogenic probes. Total and specific IgE against <i>Blomia tropicalis </i>and <i>Dermatophagoides pteronyssinus </i>were determined by ELISA. Case-control and family-based analyses were performed. Case-control association analyses were corrected by population stratification using a set of 52 ancestry-informative markers. <i>Results:</i> Eight common haplotypes were identified; among them, H4 (GCAGGG) was associated with asthma in the family group (Z score: –2.049, p = 0.04). We also found an association between the TT genotype of ST+7 and asthma in the case-control study (p = 0.05) that disappeared after correcting for multiple testing. In the family-based analysis, this genotype was a risk factor for asthma (p = 0.01), high total IgE (Z score: 2.546, p = 0.01) and high specific IgE against<i> B. tropicalis</i> (p = 0.02) and <i>D. pteronyssinus</i> (Z score: 2.414, p = 0.01). V4 was associated with specific IgE against <i>B. tropicalis</i> (p = 0.03); T2 with asthma (p = 0.03), high total IgE (p = 0.02) and IgE against D. <i>pteronyssinus</i> (p = 0.03) and T1 with high total IgE (p = 0.04). None of these associations was maintained after correction for multiple testing. <i>Conclusions:</i> Our findings suggest a relevant role of <i>ADAM33 </i>in thepathogenesis of asthma in this population.
DOI: 10.6084/m9.figshare.5120923.v1
title: Supplementary Material for: Krieg im Zuhause – ein Überblick zum Zusammenhang zwischen Kriegstraumatisierung und familiärer Gewalt

description: Die traditionelle Annahme eines «Zyklus der Gewalt» legt einen Zusammenhang zwischen Misshandlungserfahrungen im Kindesalter und der späteren Ausübung von Gewalt nahe. Die vorliegende narrative Übersicht beschäftigt sich mit der Frage, inwieweit die Erfahrung kriegerischer Gewalt mit einer Zunahme von Gewalt in Familien und insbesondere von Kindesmisshandlung einhergeht. Dabei werden zum einen Erkenntnisse herangezogen, die aus der Forschung mit Kriegsveteranen und noch aktiven Rekruten resultieren, und zum anderen Studien, die mit zivilen Populationen, Erwachsenen und Kindern in von Krieg betroffenen Ländern durchgeführt wurden. Verschiedene Untersuchungen legen eine Häufung von Beziehungsgewalt bei Männern, die aus militärischen Einsätzen zurückgekehrt sind, nahe und machen darüber hinaus deutlich, dass nicht die erlebten Kämpfe allein, sondern vor allem daraus resultierende psychische Störungen mit einer Zunahme von Gewalt in der Partnerschaft zusammenhängen. Zur Situation der Kinder in Familien mit Kriegsveteranen ist die derzeitige Studienlage unzureichend. Es ist unklar, ob die berichteten Verhaltensauffälligkeiten bei diesen Kindern eine Sekundärtraumatisierung darstellen, die mit der väterlichen Kriegstraumatisierung zusammenhängt, oder mit der vermehrten Gewaltanwendung durch den traumatisierten Vater zusammenhängt. Zu berücksichtigen sind hier auch Arbeiten, die zeigen, dass – häufiger als die Veteranen selbst – auch die zu Hause verbleibenden Mütter emotionale und körperliche Gewalt gegen ihre Kinder ausüben. Befunde zu Familien, die in Kriegsgebieten leben, stützen die Annahme, dass sich kriegerische Gewalt auf die familiäre Ebene überträgt; sie zeigen, dass der Krieg mitsamt seinen sozialen Begleitumständen Familien besonders vulnerabel für eine häufigere Anwendung von Gewalt gegen Kinder macht. Aus den zusammengetragenen Befunden resultieren wichtige Implikationen für die Behandlung kriegstraumatisierter Familien und für die Prävention weiterer Gewalt bei den Betroffenen.
DOI: 10.6084/m9.figshare.5120920.v1
title: Supplementary Material for: RAGE Does Not Affect Amyloid Pathology in Transgenic ArcAβ Mice

description: <i>Background:</i> Alzheimer’s disease (AD) is characterized by brain accumulation of the amyloid-β peptide (Aβ) that triggers a cascade of biochemical and cellular alterations resulting in the clinical phenotype of the disease. While numerous experiments addressed Aβ toxicity, the mechanisms are still not fully understood. The receptor for advanced glycation end products (RAGE) binds Aβ and was suggested to be involved in the pathological processes of AD. <i>Objective:</i> Our purpose was to assess the effect of <i>RAGE</i> deletion on Aβ-related pathology. <i>Methods:</i> We crossed RAGE knockout (RAGE<sup>–/–</sup>) mice with transgenic mice harboring both the Swedish and Arctic Aβ precursor protein mutations (arcAβ mice). We assessed Aβ levels, Aβ brain deposition, Aβ-degrading enzyme activities, Aβ precursor protein expression and processing, number and morphology of microglia as well as cognitive performance of 6- and 12-month-old RAGE<sup>–/–</sup>/arcAβ, RAGE<sup>–/–</sup>, arcAβ and wild-type mice. <i>Results:</i> RAGE<sup>–/–</sup>/arcAβ mice had significantly lower levels of SDS- and formic-acid-extracted Aβ in the cortex and hippocampus, with concomitantly increased activity of insulin-degrading enzyme at the age of 6 months. However, <i>RAGE </i>deletion could neither prevent the decline in cognitive performance nor the age-related cerebral accumulation of Aβ peptide. Furthermore, histological analysis revealed no difference in the microglia-occupied brain areas or microglial morphologies between RAGE<sup>–/–</sup>/arcAβ and arcAβ mice. <i>Conclusions:</i> Together, our results indicate that while the absence of RAGE was associated with increased insulin-degrading enzyme activity in the brain, it was not sufficient to prevent or ameliorate cognitive deterioration, Aβ accumulation and microglial activation in the arcAβ mouse model of AD.
DOI: 10.6084/m9.figshare.5120902
title: Supplementary Material for: Structural Analysis of Heschl’s Gyrus in Schizophrenia Patients with Auditory Hallucinations

description: <i>Background/Aims:</i> Heschl’s gyrus (HG) is functionally involved in the genesis of auditory verbal hallucinations (AVH). This dysfunction seems to be structurally facilitated. The aim of the study was to analyze macrostructural features of HG in a group of patients reporting AVH who demonstrated white matter diffusion tensor imaging abnormalities reported previously. <i>Methods:</i> 3-D anatomical MR scans were obtained (patients with and without history of AVH, controls). HG was delineated by manual segmentation. Cortical folding, absolute and relative volumes, laterality were analyzed. <i>Results:</i> According to the literature, in the collapsed group of patients, the normal left-greater-than-right laterality of HG was attenuated. We found a trend towards a higher number of duplicated HG in hallucinating patients. We also found a bigger volume of HG in the right hemisphere in hallucinating patients. This effect was caused by gray and white matter increase. <i>Conclusions:</i> This is the first study on manual volumetry of HG in a group of schizophrenia patients with AVH compared to patients without AVH. In a previous analysis of the diffusion tensor imaging data of the here presented sample, we found higher directionality of the arcuate fasciculus in patients with AVH, facilitating abnormal co-activation in the auditory cortices in the hallucinating brain. As these abnormal activations are frequent in hallucinating patients, the here described volume increase of HG might be interpreted as compensatory plastic adaptations of the contralateral regions. We suggest that this volume increase of HG is caused by the symptomatology and not by the underlying disorder of schizophrenia.