cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5121814
title: Supplementary Material for: Mania and Stroke: A Systematic Review

description: <i>Background:</i> Mania is a rare consequence of stroke and according to the sparse published information it is difficult to describe its demographic, clinical and prognostic characteristics. <i>Methods:</i> We performed a systematic review of all cases of mania and stroke to describe those characteristics. Studies were identified from comprehensive searches of electronic databases, reference lists of the studies collected and handbooks. Two authors independently assessed abstracts, and collected and extracted data. <i>Results:</i> From 265 abstracts, 139 were potentially relevant. For the first analysis, which tries to answer the clinical question of the relationship between mania and stroke, 49 studies met the inclusion criteria and described 74 cases. For the second analysis, we looked for an explicit temporal and causal relationship between manic symptoms and stroke, and selected 32 studies describing 49 cases. In both analyses, the typical patient was male, without a personal or family history of psychiatric disorder, with at least one vascular risk factor, but without subcortical atrophy and had suffered a right cerebral infarct. The majority of patients (92%) presented elevated mood as the first symptom. The other frequent symptoms were an increased rate or amount of speech (71%), insomnia (69%) and agitation (63%). <i>Conclusions:</i> Post-stroke mania should be considered in any manic patient who presents concomitant neurological focal deficits and is older than expected for the onset of primary mania. The results of a systematic study of mania in acute stroke with subsequent follow-up and data from diffusion MR or perfusion CT in a multicenter study with a central database would be relevant.
DOI: 10.6084/m9.figshare.5121817
title: Supplementary Material for: A Rare Case of Aortic Valve Myxoma: An Unusual Cause of Embolic Stroke

description: Aortic valve myxoma is an extremely rare cardiac tumour. We describe a 60-year-old woman found to have an aortic valve myxoma and a patent foramen ovale (PFO) presenting as a stroke. In view of the recurrent cerebral ischaemic events, the aortic valve myxoma was surgically removed and the PFO was closed. To the best of our knowledge, this is the first reported case of aortic valve myxoma with a PFO. We also highlight the importance of identifying a possible cardiac source of embolism in a stroke patient and considering this rare tumour as a cause in patients with a cryptogenic stroke.
DOI: 10.6084/m9.figshare.5121811
title: Supplementary Material for: The C-Terminal Sequence of Several Human Serine Proteases Encodes Host Defense Functions

description: Serine proteases of the S1 family have maintained a common structure over an evolutionary span of more than one billion years, and evolved a variety of substrate specificities and diverse biological roles, involving digestion and degradation, blood clotting, fibrinolysis and epithelial homeostasis. We here show that a wide range of C-terminal peptide sequences of serine proteases, particularly from the coagulation and kallikrein systems, share characteristics common with classical antimicrobial peptides of innate immunity. Under physiological conditions, these peptides exert antimicrobial effects as well as immunomodulatory functions by inhibiting macrophage responses to bacterial lipopolysaccharide. In mice, selected peptides are protective against lipopolysaccharide-induced shock. Moreover, these S1-derived host defense peptides exhibit helical structures upon binding to lipopolysaccharide and also permeabilize liposomes. The results uncover new and fundamental aspects on host defense functions of serine proteases present particularly in blood and epithelia, and provide tools for the identification of host defense molecules of therapeutic interest.
DOI: 10.6084/m9.figshare.5121817.v1
title: Supplementary Material for: A Rare Case of Aortic Valve Myxoma: An Unusual Cause of Embolic Stroke

description: Aortic valve myxoma is an extremely rare cardiac tumour. We describe a 60-year-old woman found to have an aortic valve myxoma and a patent foramen ovale (PFO) presenting as a stroke. In view of the recurrent cerebral ischaemic events, the aortic valve myxoma was surgically removed and the PFO was closed. To the best of our knowledge, this is the first reported case of aortic valve myxoma with a PFO. We also highlight the importance of identifying a possible cardiac source of embolism in a stroke patient and considering this rare tumour as a cause in patients with a cryptogenic stroke.
DOI: 10.6084/m9.figshare.5121820.v1
title: Supplementary Material for: Skeletal Muscle Gene Expression Profile Is Modified by Dietary Protein Source and Calcium during Energy Restriction

description: <i>Background/Aims:</i> The potential of whey protein and calcium to modify skeletal muscle gene expression during energy restriction (ER) was investigated in a model of diet-induced obesity. <i>Methods:</i> Obese C57BL/6J mice received casein (calcium 0.4%) and two different high-calcium (1.8%) whey protein-based [whey protein isolate (WPI) + Ca and α-lactalbumin + Ca] diets for ER. <i>Results:</i> Compared to casein, WPI and α-lactalbumin-based diets altered 208 and 287 genes, respectively, of which 186 genes were common to WPI and α-lactalbumin diets. These genes represented 31 KEGG pathways. The Wnt signaling was the most enriched pathway among the 101 genes regulated by α-lactalbumin only, whereas the 22 genes regulated by WPI only were not associated with KEGG pathways. Unlike casein, WPI and α-lactalbumin diets decreased Aldh1a7, Fasn, leptin, Nr4a3 and Scd1 mRNA expression, indicating dietary protein source-dependent alterations in muscle lipid and fatty acid metabolism. Muscle weight or lean body mass maintenance did not differ between groups although modest changes in hypertrophy/atrophy signaling were found. <i>Conclusion:</i> The skeletal muscle gene expression profile is modified by the dietary protein source and calcium during ER which may explain, at least in part, the greater anti-obesity effect of whey proteins and calcium compared to casein.
DOI: 10.6084/m9.figshare.5121805
title: Supplementary Material for: High Prevalence of Multiple Human Papillomavirus Infection in Japanese Patients with Invasive Uterine Cervical Cancer

description: <i>Objective:</i> Multiple human papillomavirus (HPV) infection of the uterine cervix has been suggested as a risk factor for persistent HPV infection, resulting in the development of invasive cervical cancer. The aim of this study was to reveal the actual state of multiple HPV infection in Japanese patients with invasive cervical cancer. <i>Methods:</i> Sixty fresh-frozen invasive cervical cancer tissues were examined for genotyping of HPV. The presence of HPV genotypes was determined with an HPV-DNA array, which can discriminate 25 different HPV genotypes with high sensitivity and specificity. <i>Results:</i> Among 60 samples, 59 (96.7%) were positive for HPV. The three common genotypes were HPV-16 (83.3%), HPV-18 (45.0%) and HPV-52 (28.3%). Multiple HPV infection was observed in 47 of 60 samples (78.3%), among which 42 were infected with more than one high-risk genotype (70.0%). Multiple high-risk HPV infection was significantly more prevalent in patients below 40 years old (14/15, 93.3%) than in patients 40 years of age and over (28/45, 62.2%). <i>Conclusion:</i> The HPV-DNA array is the preferred method to detect HPV genotypes. Multiple HPV infection in Japanese patients with invasive cervical cancer seemed to be more frequent than reported in the literature.
DOI: 10.6084/m9.figshare.5121808
title: Supplementary Material for: Methods for the Measurement and Characterization of Erosion in Enamel and Dentine

description: The advantages, limitations and potential applications of available methods for studying erosion of enamel and dentine are reviewed. Special emphasis is placed on the influence of histological differences between the dental hard tissue and the stage of the erosive lesion. No method is suitable for all stages of the lesion. Factors determining the applicability of the methods are: surface condition of the specimen, type of the experimental model, nature of the lesion, need for longitudinal measurements and type of outcome. The most suitable and most widely used methods are: chemical analyses of mineral release and enamel surface hardness for early erosion, and surface profilometry and microradiography for advanced erosion. Morphological changes in eroded dental tissue have usually been characterised by scanning electron microscopy. Novel methods have also been used, but little is known of their potential and limitations. Therefore, there is a need for their further development, evaluation, consolidation and, in particular, validation.
DOI: 10.6084/m9.figshare.5121796
title: Supplementary Material for: Convergent Genomic Studies Identify Association of GRIK2 and NPAS2 with Chronic Fatigue Syndrome

description: <i>Background:</i> There is no consistent evidence of specific gene(s) or molecular pathways that contribute to the pathogenesis, therapeutic intervention or diagnosis of chronic fatigue syndrome (CFS). While multiple studies support a role for genetic variation in CFS, genome-wide efforts to identify associated loci remain unexplored. We employed a novel convergent functional genomics approach that incorporates the findings from single-nucleotide polymorphism (SNP) and mRNA expression studies to identify associations between CFS and novel candidate genes for further investigation. <i>Methods:</i> We evaluated 116,204 SNPs in 40 CFS and 40 nonfatigued control subjects along with mRNA expression of 20,160 genes in a subset of these subjects (35 CFS subjects and 27 controls) derived from a population-based study. <i>Results:</i> Sixty-five SNPs were nominally associated with CFS (p &lt; 0.001), and 165 genes were differentially expressed (≧4-fold; p ≤ 0.05) in peripheral blood mononuclear cells of CFS subjects. Two genes, glutamate receptor, ionotropic, kinase 2<i> (GRIK2)</i> and neuronal PAS domain protein 2<i> (NPAS2),</i> were identified by both SNP and gene expression analyses. Subjects with the G allele of rs2247215 <i>(GRIK2)</i> were more likely to have CFS (p = 0.0005), and CFS subjects showed decreased <i>GRIK2</i> expression (10-fold; p = 0.015). Subjects with the T allele of rs356653 <i>(NPAS2)</i> were more likely to have CFS (p = 0.0007), and <i>NPAS2</i> expression was increased (10-fold; p = 0.027) in those with CFS. <i>Conclusion:</i> Using an integrated genomic strategy, this study suggests a possible role for genes involved in glutamatergic neurotransmission and circadian rhythm in CFS and supports further study of novel candidate genes in independent populations of CFS subjects.
DOI: 10.6084/m9.figshare.5121799
title: Supplementary Material for: Genomewide Linkage Scan for Diabetic Renal Failure and Albuminuria: The FIND Study

description: <i>Background:</i> Diabetic nephropathy (DN) is a leading cause of mortality and morbidity in patients with type 1 and type 2 diabetes. The multicenter FIND consortium aims to identify genes for DN and its associated quantitative traits, e.g. the urine albumin:creatinine ratio (ACR). Herein, the results of whole-genome linkage analysis and a sparse association scan for ACR and a dichotomous DN phenotype are reported in diabetic individuals. <i>Methods:</i> A genomewide scan comprising more than 5,500 autosomal single nucleotide polymorphism markers (average spacing of 0.6 cM) was performed on 1,235 nuclear and extended pedigrees (3,972 diabetic participants) ascertained for DN from African-American (AA), American-Indian (AI), European-American (EA) and Mexican-American (MA) populations. <i>Results:</i> Strong evidence for linkage to DN was detected on chromosome 6p (p = 8.0 × 10<sup>–5</sup>, LOD = 3.09) in EA families as well as suggestive evidence for linkage to chromosome 7p in AI families. Regions on chromosomes 3p in AA, 7q in EA, 16q in AA and 22q in MA displayed suggestive evidence of linkage for urine ACR. The linkage peak on chromosome 22q overlaps the <i>MYH9/APOL1</i> gene region, previously implicated in AA diabetic and nondiabetic nephropathies. <i>Conclusion:</i> These results strengthen the evidence for previously identified genomic regions and implicate several novel loci potentially involved in the pathogenesis of DN.
DOI: 10.6084/m9.figshare.5121805.v1
title: Supplementary Material for: High Prevalence of Multiple Human Papillomavirus Infection in Japanese Patients with Invasive Uterine Cervical Cancer

description: <i>Objective:</i> Multiple human papillomavirus (HPV) infection of the uterine cervix has been suggested as a risk factor for persistent HPV infection, resulting in the development of invasive cervical cancer. The aim of this study was to reveal the actual state of multiple HPV infection in Japanese patients with invasive cervical cancer. <i>Methods:</i> Sixty fresh-frozen invasive cervical cancer tissues were examined for genotyping of HPV. The presence of HPV genotypes was determined with an HPV-DNA array, which can discriminate 25 different HPV genotypes with high sensitivity and specificity. <i>Results:</i> Among 60 samples, 59 (96.7%) were positive for HPV. The three common genotypes were HPV-16 (83.3%), HPV-18 (45.0%) and HPV-52 (28.3%). Multiple HPV infection was observed in 47 of 60 samples (78.3%), among which 42 were infected with more than one high-risk genotype (70.0%). Multiple high-risk HPV infection was significantly more prevalent in patients below 40 years old (14/15, 93.3%) than in patients 40 years of age and over (28/45, 62.2%). <i>Conclusion:</i> The HPV-DNA array is the preferred method to detect HPV genotypes. Multiple HPV infection in Japanese patients with invasive cervical cancer seemed to be more frequent than reported in the literature.
DOI: 10.6084/m9.figshare.5121808.v1
title: Supplementary Material for: Methods for the Measurement and Characterization of Erosion in Enamel and Dentine

description: The advantages, limitations and potential applications of available methods for studying erosion of enamel and dentine are reviewed. Special emphasis is placed on the influence of histological differences between the dental hard tissue and the stage of the erosive lesion. No method is suitable for all stages of the lesion. Factors determining the applicability of the methods are: surface condition of the specimen, type of the experimental model, nature of the lesion, need for longitudinal measurements and type of outcome. The most suitable and most widely used methods are: chemical analyses of mineral release and enamel surface hardness for early erosion, and surface profilometry and microradiography for advanced erosion. Morphological changes in eroded dental tissue have usually been characterised by scanning electron microscopy. Novel methods have also been used, but little is known of their potential and limitations. Therefore, there is a need for their further development, evaluation, consolidation and, in particular, validation.
DOI: 10.6084/m9.figshare.5121790
title: Supplementary Material for: Reducing Inter-Rater Variability in the Assessment of Nuchal Translucency Image Quality

description: <i>Introduction:</i> Standardization of first-trimester nuchal translucency (NT) image acquisition is crucial to the success of screening for Down syndrome. Rigorous audit of operator performance and constructive feedback from assessors maintain standards. This process relies on good inter-rater agreement on image assessment. We describe the Australian approach to NT image assessment and evaluate the impact of a targeted intervention on inter-rater agreement. <i>Methods:</i> Between 2002 and 2008 a group of experienced practitioners met nine times to compare their assessment of a series of NT images. Each assessor had previously scored the images according to a system described in 2002. Inter-rater agreement was evaluated before and after an intervention where the assessors were required to refer to a detailed resource manual designed to reduce the subjectivity inherent in image assessment. <i>Results:</i> There was a statistical improvement in inter-rater agreement for all elements of image assessment (original scores and individual component scores) after the intervention, apart from horizontal fetal position. However, even after the intervention, inter-rater agreement levels generally remained moderate (kappa range: 0.14–0.58). <i>Conclusions:</i> This study has shown that provision of detailed resource documentation to experienced assessors can significantly improve inter-rater agreement in all facets of NT image assessment. It also highlights areas of image assessment that require critical review. It is recommended that all audit bodies regularly review their inter-rater agreement to ensure consistent feedback to operators who submit images for expert peer review.
DOI: 10.6084/m9.figshare.5121793
title: Supplementary Material for: Prolyl Endopeptidase Is Involved in Cellular Signalling in Human Neuroblastoma SH-SY5Y Cells

description: Prolyl endopeptidase (PREP), probably acting through the inositol cycle, has been implicated in memory and learning. However, the physiological role of PREP is unknown. It has been shown that PREP expression, regulated in cerebellar granule cells, has probably a role in cell proliferation and differentiation. Here, we report the levels and subcellular distribution of PREP in human neuroblastoma SH-SY5Y cells in proliferating conditions and under differentiation induced by retinoic acid (RA). We analysed the levels of cell signalling intermediates, growth behavior and gene expression, and differentiation morphology changes, upon PREP inhibition. After induction of differentiation, PREP activity was found decreased in the nucleus but increased to high levels in the cytoplasm, due in part to increased PREP transcription. The levels of inositol (1,4,5)-trisphosphate revealed no correlation with PREP activity, but phosphorylated extracellular signal-regulated kinases 1 and 2 were decreased by PREP inhibition during early stages of differentiation. Morphological evaluation indicated that PREP inhibition retarded the onset of differentiation. PREP activity regulated gene expression of protein synthesis machinery, intracellular transport and kinase complexes. We conclude that PREP is a regulatory target and a regulatory element in cell signalling. This is the first report of a direct influence of a cell signalling molecule, RA, on PREP expression.
DOI: 10.6084/m9.figshare.5121802
title: Supplementary Material for: Introduction of Potentially Allergenic Foods in the Infant’s Diet during the First Year of Life in Five European Countries

description: <i>Background:</i> Little information is available on infants’ age at first introduction of potentially allergenic foods as part of complementary feeding. We aimed to analyze age at the introduction of potentially allergenic foods in healthy term infants relative to recommendations in 5 European countries. <i>Method:</i> Recruitment was conducted from October 2002 to June 2004. A total of 1,678 infants [588 breastfed (BF) and 1,090 formula-fed (FF) infants] were studied. In 1,368 infants, at least one 3-day weighed food diary at the age of 1–9 and 12 completed months was available. <i>Results:</i> Six percent of BF infants and 13% of FF infants consumed some potentially allergenic food already prior to the recommended minimum age of 4 months, and 4% of BF infants and 11% of FF infants had already received gluten. There were significant differences in the timing of the introduction of potentially allergenic foods between the countries at the age of 4–6 months (p &lt; 0.001). <i>Conclusion:</i> The time of first introduction of potentially allergenic foods in infants differed significantly between countries, and they were introduced much earlier than recommended in some countries. FF infants received potentially allergenic foods earlier than BF infants. Better information and counseling of parents is desirable.
DOI: 10.6084/m9.figshare.5121793.v1
title: Supplementary Material for: Prolyl Endopeptidase Is Involved in Cellular Signalling in Human Neuroblastoma SH-SY5Y Cells

description: Prolyl endopeptidase (PREP), probably acting through the inositol cycle, has been implicated in memory and learning. However, the physiological role of PREP is unknown. It has been shown that PREP expression, regulated in cerebellar granule cells, has probably a role in cell proliferation and differentiation. Here, we report the levels and subcellular distribution of PREP in human neuroblastoma SH-SY5Y cells in proliferating conditions and under differentiation induced by retinoic acid (RA). We analysed the levels of cell signalling intermediates, growth behavior and gene expression, and differentiation morphology changes, upon PREP inhibition. After induction of differentiation, PREP activity was found decreased in the nucleus but increased to high levels in the cytoplasm, due in part to increased PREP transcription. The levels of inositol (1,4,5)-trisphosphate revealed no correlation with PREP activity, but phosphorylated extracellular signal-regulated kinases 1 and 2 were decreased by PREP inhibition during early stages of differentiation. Morphological evaluation indicated that PREP inhibition retarded the onset of differentiation. PREP activity regulated gene expression of protein synthesis machinery, intracellular transport and kinase complexes. We conclude that PREP is a regulatory target and a regulatory element in cell signalling. This is the first report of a direct influence of a cell signalling molecule, RA, on PREP expression.
DOI: 10.6084/m9.figshare.5121796.v1
title: Supplementary Material for: Convergent Genomic Studies Identify Association of GRIK2 and NPAS2 with Chronic Fatigue Syndrome

description: <i>Background:</i> There is no consistent evidence of specific gene(s) or molecular pathways that contribute to the pathogenesis, therapeutic intervention or diagnosis of chronic fatigue syndrome (CFS). While multiple studies support a role for genetic variation in CFS, genome-wide efforts to identify associated loci remain unexplored. We employed a novel convergent functional genomics approach that incorporates the findings from single-nucleotide polymorphism (SNP) and mRNA expression studies to identify associations between CFS and novel candidate genes for further investigation. <i>Methods:</i> We evaluated 116,204 SNPs in 40 CFS and 40 nonfatigued control subjects along with mRNA expression of 20,160 genes in a subset of these subjects (35 CFS subjects and 27 controls) derived from a population-based study. <i>Results:</i> Sixty-five SNPs were nominally associated with CFS (p &lt; 0.001), and 165 genes were differentially expressed (≧4-fold; p ≤ 0.05) in peripheral blood mononuclear cells of CFS subjects. Two genes, glutamate receptor, ionotropic, kinase 2<i> (GRIK2)</i> and neuronal PAS domain protein 2<i> (NPAS2),</i> were identified by both SNP and gene expression analyses. Subjects with the G allele of rs2247215 <i>(GRIK2)</i> were more likely to have CFS (p = 0.0005), and CFS subjects showed decreased <i>GRIK2</i> expression (10-fold; p = 0.015). Subjects with the T allele of rs356653 <i>(NPAS2)</i> were more likely to have CFS (p = 0.0007), and <i>NPAS2</i> expression was increased (10-fold; p = 0.027) in those with CFS. <i>Conclusion:</i> Using an integrated genomic strategy, this study suggests a possible role for genes involved in glutamatergic neurotransmission and circadian rhythm in CFS and supports further study of novel candidate genes in independent populations of CFS subjects.