cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5127028.v1
title: Supplementary Material for: Frontal Corpus Callosum Alterations in Progressive Supranuclear Palsy but Not in Parkinson's Disease

description: <b><i>Background:</i></b> Frontal lobe involvement is considered a clinical and magnetic resonance imaging (MRI) feature in later stages of progressive supranuclear palsy (PSP). <b><i>Objective:</i></b> Diffusion tensor imaging (DTI) was used to investigate the integrity of frontal pathways in PSP and Parkinson's disease (PD) patients. <b><i>Methods:</i></b> DTI and 3-D MRI were performed in 15 PSP patients (parkinsonism subtype: n = 8; Richardson subtype: n = 7), 15 PD patients, and 18 matched controls. DTI analysis was performed in order to identify differences along frontal white matter structures including the corpus callosum (CC) and was complemented by atlas-based volumetry and planimetry. <b><i>Results:</i></b> Significantly reduced regional fractional anisotropy was observed for PSP patients versus controls and PSP versus PD patients, respectively, in frontal areas including the area II of the CC and bilaterally in the callosal radiation. The DTI findings correlated with frontal lobe volumes. These differences were not observed between PD patients and controls. <b><i>Conclusion:</i></b> DTI identified a PSP-associated microstructural alteration pattern in the frontal lobes and in the CC area II including the corresponding bilateral callosal radiation tracts that could not be identified in both control samples, supporting the prominent PSP-associated frontal involvement as a potential neuroimaging marker.
DOI: 10.6084/m9.figshare.5127034.v1
title: Supplementary Material for: Copy Number Variants in Short Children Born Small for Gestational Age

description: <b><i>Background/Aims:</i></b> In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. <b><i>Methods:</i></b> Genome-wide analysis for copy number variants (CNVs), using single nucleotide polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age with persistent short stature. Segregation analysis was performed, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates, and published information. <b><i>Results:</i></b> CNVs were detected in 13 cases. In 5 children a known cause of short stature was found: UPD7, UPD14, a duplication of the <i>SHOX</i> enhancer region, an<i> IGF1R</i> deletion, and a 22q11.21 deletion. In the remaining 8 cases, potential pathogenic CNVs were detected, either de novo (n = 1), segregating (n = 2), or not segregating with short stature (n = 5). Bioinformatic analysis of the de novo and segregating CNVs suggested that <i>HOXD4</i>, <i>AGPS</i>, <i>PDE11A</i>, <i>OSBPL6</i>, <i>PRKRA </i>and <i>PLEKHA3</i>, and possibly <i>DGKB</i> and <i>TNFRSF11B</i> are potential candidate genes<i>.</i> A <i>SERPINA7</i> or <i>NRK</i> defect may be associated with an X-linked form of short stature. <b><i>Conclusion:</i></b> SNP arrays detected 5 known causes of short stature with prenatal onset and suggested several potential candidate genes.
DOI: 10.6084/m9.figshare.5127013
title: Supplementary Material for: Long-Term Natural History of Intracranial Arterial Stenosis: An MRA Follow-Up Study

description: <b><i>Background:</i></b> Intracranial arterial stenosis (ICAS) is a major cause of ischemic stroke in Asians. Despite the clinical importance of ICAS, the literature on the natural history of ICAS has been less enlightening. The aims of our study were to evaluate a long-term natural course of symptomatic and asymptomatic ICAS. <b><i>Methods:</i></b> 102 subjects (37 symptomatic and 65 asymptomatic) underwent follow-up MR angiography (MRA) with a median time interval between initial and follow-up MRA of 5.7 years (range 3.6-8.5 years). For each patient, the extent of stenosis of five arteries (both middle cerebral arteries, both intracranial internal carotid arteries, and basilar artery) was classified according to five grades, by consensus: normal, mild (signal reduction &lt;50%), moderate (signal reduction ≥50%), severe (focal signal loss with the presence of a distal signal), and occlusion. Because the sample size was too small to adjust for multiple confounders, we applied the propensity score. <b><i>Results:</i></b> Mean (Standard deviation) age at initial MRA was 63.5 (9.6) and 54% were men. The progression rate of ICAS differed significantly between symptomatic and asymptomatic patients (22 vs. 8%, p &lt; 0.01), indicating a 3-fold risk of progression for symptomatic stenosis compared with asymptomatic stenosis [odds ratio (OR) 3.27, 95% confidence interval (CI) 1.08-9.95]. After adjustment for propensity score, the OR was 4.84 (95% CI, 1.40-16.7). In the matched cohort, the relative risk of stenosis progression was 5.20 for symptomatic stenosis (95% CI 1.00-27.23) compared with asymptomatic stenosis. <b><i>Conclusion:</i></b> We found a greater risk of progression for symptomatic stenosis compared with asymptomatic stenosis.
DOI: 10.6084/m9.figshare.5127016
title: Supplementary Material for: Preoperative Risk Factors for Residual Tricuspid Regurgitation after Isolated Left-Sided Valve Surgery: A Systematic Review and Meta-Analysis

description: <b><i>Objectives:</i></b> Residual tricuspid regurgitation (TR) that has developed after isolated left-sided valve surgery is not uncommon. Indications for concomitant tricuspid repair at the initial operation have not been well established. The selection of high-risk preoperative patients is of great importance in this situation. <b><i>Methods:</i></b> Six databases were searched to access eligible articles reporting potential risk factors for the development of residual TR. The pooled analysis of risk factors was based on odds ratios or mean differences with their 95% confidence intervals. <b><i>Results:</i></b> A total of 3,138 patients with 487 residual TR in 11 studies were analyzed. Of the 14 candidate parameters in our meta-analysis, 10 factors, i.e. older age, female gender, atrial fibrillation, rheumatic etiology, mitral valve surgery, previous valve surgery, a long time from onset to surgery, 2+/3+ TR and enlarged left and right atria, were found to be significantly associated with the development of residual TR. <b><i>Conclusions:</i></b> Our study highlights the role of the above preoperative risk factors in the development of residual TR after isolated left-sided valve surgery and emphasizes the need of further studies to investigate other potential predictors. Moreover, predictive models or scoring systems for the identification of patients at a high risk for developing late TR are urgently needed.
DOI: 10.6084/m9.figshare.5127019
title: Supplementary Material for: Cancer-Related Therapies at the End of Life in Hospitalized Cancer Patients from Four Swiss Cantons: SAKK 89/09

description: The use of cancer-related therapies in cancer patients hospitalized at the end of life has increased in many countries over time. Given the scarcity of published Swiss data, the objective of this study was to evaluate the influence of hospital type and other factors on the delivery of health care during the last month before death. Claims data were used to assess health care utilization of cancer patients (identified by cancer registry data of four participating Swiss cantons) who deceased between 2006 and 2008. Primary endpoints were delivery of cancer-related therapies during the last 30 days before death. Multivariate logistic regression assessed the explanatory value of hospital type, patient and geographic characteristics. Of 3,809 identified cancer patients in the claims database, 2,086 patients dying from cancer were hospitalized during the last 30 days before death, generating 2,262 inpatient episodes. Anticancer drug therapy was given in 22.2% and radiotherapy in 11.7% of episodes. Besides age and cancer type, the canton of residence and hospital type showed independent, statistically significant associations with intensity of care, which was highest in university hospitals. These results should initiate a discussion among oncologists in Switzerland and may question the compliance with standard of care guidelines for terminal cancer patients. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127022
title: Supplementary Material for: Expression and Functional Activity of the Bitter Taste Receptors TAS2R1 and TAS2R38 in Human Keratinocytes

description: Recent studies have shown that human bitter taste receptors (TAS2Rs) are not only expressed in mucous epithelial cells of the tongue, but also in epithelial cells of the colon, stomach and upper respiratory tract. These cell types come in close contact with external bitter compounds by ingestion or breathing. In the present work we addressed the question whether bitter taste receptors might also be expressed in cornified epithelial cells of the skin. Here, we show for the first time the expression of TAS2R1 and TAS2R38 in human skin. Double staining of HaCaT cells and primary keratinocytes demonstrated the colocalization of TAS2R1 and TAS2R38 with the adaptor protein α-gustducin that is essential for signal transduction upon ligand binding. To test if TAS2Rs in keratinocytes are functional, we stimulated HaCaT cells with diphenidol, a clinically used bitter-tasting antiemetic, or amarogentin, the bitterest plant substance, that binds TAS2Rs, including TAS2R1 and TAS2R38. Diphenidol and amarogentin induced calcium influx. Furthermore, in keratinocytes diphenidol and amarogentin stimulated the expression of the differentiation markers keratin 10, involucrin and transglutaminase. Therefore, apart from the known role in mucous membranes of the gastrointestinal tract, TAS2Rs are expressed in the epidermis and might play a role in keratinocyte differentiation.
DOI: 10.6084/m9.figshare.5127025.v1
title: Supplementary Material for: Addition of Local Hepatic Therapy to Sorafenib in Patients with Advanced Hepatocellular Carcinoma (Stage BCLC C)

description: <b><i>Background/Aims:</i></b> For most patients with hepatocellular carcinoma (HCC), diagnosis is invariably done only in the advanced stages of the disease. For advanced, non-metastatic stage, standard therapy is transarterial chemoembolization (TACE). For metastatic disease, the recommended therapy is systemic treatment with sorafenib. In this study, we evaluated the benefit of an additional local hepatic treatment for patients with advanced metastatic disease. <b><i>Methods:</i></b> In a retrospective study, we assessed the overall survival (OS), time to progression (TTP), and disease control rate (DCR) in 37 patients with metastasized HCC treated with sorafenib. Sixteen patients received additional local therapy, while 21 patients received only sorafenib. <b><i>Results:</i></b> Median OS of patients with combined therapy was significantly higher with 25 months (95% CI: 13.7-36.3 months) as compared to 11 months (95% CI: 6.2-15.8 months) in patients treated with sorafenib alone. TTP was 7 months (95% CI: 5.3-8.7 months) compared to 5 months (95% CI: 3-7 months) and DCR was 87 versus 72% after 3 months and 31 versus 22% after 9 months. <b><i>Conclusion:</i></b> These data suggest that control of the liver tumor burden by local therapy in combination with sorafenib might prove beneficial for metastasized HCC. Randomised studies are needed to confirm this exploratory finding. © 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127013.v1
title: Supplementary Material for: Long-Term Natural History of Intracranial Arterial Stenosis: An MRA Follow-Up Study

description: <b><i>Background:</i></b> Intracranial arterial stenosis (ICAS) is a major cause of ischemic stroke in Asians. Despite the clinical importance of ICAS, the literature on the natural history of ICAS has been less enlightening. The aims of our study were to evaluate a long-term natural course of symptomatic and asymptomatic ICAS. <b><i>Methods:</i></b> 102 subjects (37 symptomatic and 65 asymptomatic) underwent follow-up MR angiography (MRA) with a median time interval between initial and follow-up MRA of 5.7 years (range 3.6-8.5 years). For each patient, the extent of stenosis of five arteries (both middle cerebral arteries, both intracranial internal carotid arteries, and basilar artery) was classified according to five grades, by consensus: normal, mild (signal reduction &lt;50%), moderate (signal reduction ≥50%), severe (focal signal loss with the presence of a distal signal), and occlusion. Because the sample size was too small to adjust for multiple confounders, we applied the propensity score. <b><i>Results:</i></b> Mean (Standard deviation) age at initial MRA was 63.5 (9.6) and 54% were men. The progression rate of ICAS differed significantly between symptomatic and asymptomatic patients (22 vs. 8%, p &lt; 0.01), indicating a 3-fold risk of progression for symptomatic stenosis compared with asymptomatic stenosis [odds ratio (OR) 3.27, 95% confidence interval (CI) 1.08-9.95]. After adjustment for propensity score, the OR was 4.84 (95% CI, 1.40-16.7). In the matched cohort, the relative risk of stenosis progression was 5.20 for symptomatic stenosis (95% CI 1.00-27.23) compared with asymptomatic stenosis. <b><i>Conclusion:</i></b> We found a greater risk of progression for symptomatic stenosis compared with asymptomatic stenosis.
DOI: 10.6084/m9.figshare.5127019.v1
title: Supplementary Material for: Cancer-Related Therapies at the End of Life in Hospitalized Cancer Patients from Four Swiss Cantons: SAKK 89/09

description: The use of cancer-related therapies in cancer patients hospitalized at the end of life has increased in many countries over time. Given the scarcity of published Swiss data, the objective of this study was to evaluate the influence of hospital type and other factors on the delivery of health care during the last month before death. Claims data were used to assess health care utilization of cancer patients (identified by cancer registry data of four participating Swiss cantons) who deceased between 2006 and 2008. Primary endpoints were delivery of cancer-related therapies during the last 30 days before death. Multivariate logistic regression assessed the explanatory value of hospital type, patient and geographic characteristics. Of 3,809 identified cancer patients in the claims database, 2,086 patients dying from cancer were hospitalized during the last 30 days before death, generating 2,262 inpatient episodes. Anticancer drug therapy was given in 22.2% and radiotherapy in 11.7% of episodes. Besides age and cancer type, the canton of residence and hospital type showed independent, statistically significant associations with intensity of care, which was highest in university hospitals. These results should initiate a discussion among oncologists in Switzerland and may question the compliance with standard of care guidelines for terminal cancer patients. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127004
title: Supplementary Material for: Changes in Dental Plaque Microbial Richness and Oral Behavioral Habits during Caries Development in Young Chinese Children

description: <b><i>Objective:</i></b> To detect changes in the microbial richness of dental plaque and oral behaviors during caries development in young Chinese children. <b><i>Methods:</i></b> Supragingival plaque samples and a survey of oral behaviors of 130 children aged 3 at baseline were analyzed at 6 months and 12 months. Total DNA was isolated from all samples and PCR-denaturing gradient gel electrophoresis analysis was conducted. <b><i>Results:</i></b> In the follow-up, 44 children had caries or cavity fillings at 6 months, a further 28 children had caries or cavity fillings at 12 months. The other 58 children remained caries-free at 12 months. According to the changes in caries status at the 12-month follow-up, all participants were divided into three groups: caries-free, caries at 6 months and caries at 12 months. The changes in oral behaviors during the 12-month follow-up were not significantly different in the three groups. The frequency of eating sweets and eating sweets before sleeping was significantly different among the three groups at baseline. At baseline, the average detectable bands of caries in the 12-month caries group were similar to those of the caries-free group; both of them were higher than that of the 6-month caries group. At 6 months, the average detectable bands of the 12-month caries group were significantly lower than that of the caries-free group although the children of the 12-month caries group were caries-free at that time. <b><i>Conclusions:</i></b> For young Chinese children, the high frequency of eating sweets and eating sweets before sleeping are risk factors of caries onset, and the decrease in microbial richness could occur 6 months before the onset of caries.
DOI: 10.6084/m9.figshare.5127007
title: Supplementary Material for: Novel <b><i>TECTA </i></b>Mutations Identified in Stable Sensorineural Hearing Loss and Their Clinical Implications

description: <i>TECTA</i> is a causative gene of autosomal dominant (DFNA8/A12) and autosomal recessive (DFNB 21) nonsyndromic sensorineural hearing loss (NSHL). Mutations in <i>TECTA</i> account for 4% of all autosomal dominant NSHL cases in some populations and are thus thought to be one of the major causes of autosomal dominant NSHL. A genotype-phenotype correlation for autosomal dominant mutations in the <i>TECTA</i> gene has been proposed. Two families (SB146 and SB149), which segregated moderate NSHL in an autosomal dominant fashion, were included in this study. We performed targeted resequencing of 134 known deafness genes (TRS-134) and bioinformatics analyses to find causative mutations for NSHL in these 2 families. Through TRS-134, we detected 2 novel mutations, i.e. c.3995G&gt;T (p.C1332F) and c.5618C&gt;T (p.T1873I), in the <i>TECTA </i>gene. These mutations cosegregated with NSHL in the studied families and were not detected in normal controls. The mutations c.3995G&gt;T and c.5618C&gt;T reside in the von Willebrand factor type D3-D4 (vWFD3-D4) interdomain of the zonadhesin (ZA) domain and the zona pellucida (ZP) domain, respectively. p.C1332F is the first mutation detected in the vWFD3-D4 interdomain of the ZA domain. The mutations p.C1332F and p.T1873I were associated with stable high-frequency and mid-frequency hearing loss, respectively. Notably, the cysteine residue mutated to phenylalanine in SB146 was not related to progression of sensorineural hearing loss, which argues against the previous hypothesis. Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency NSHL in Koreans. This clinical feature makes subjects with the missense mutation in the vWFD3-D4 interdomain of <i>TECTA</i> potentially good candidates for middle ear implantation. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127010
title: Supplementary Material for: Fetuin A/Nutritional Status Predicts Cardiovascular Outcomes and Survival in Hemodialysis Patients

description: <b><i>Background:</i></b> Fetuin A - a predictor of cardiovascular (CV) outcomes in dialysis patients - is correlated with over-nutrition in the general population. Whether fetuin A and nutritional status interact with each other to alter CV outcomes and survival in hemodialysis (HD) patients remains unknown. <b><i>Methods:</i></b> We performed a prospective study on 388 prevalent HD patients. We used the geriatric nutritional risk index (GNRI) for the evaluation of nutritional status. Study outcomes included the occurrence of CV event, CV death, and all-cause mortality during follow-up; interactions between parameters for predicting outcomes were assessed by the interaction terms in a Cox regression model. <b><i>Results:</i></b> Overall, 131 patients experienced CV events and 92 patients died, with 51 CV deaths. HD patients with higher fetuin A levels had lower numbers of CV events (adjusted hazard ratio [HR], 0.9; 0.81-0.99) and all-cause mortality (adjusted HR, 0.97; 0.91-0.99). However, patients with higher GNRI had lower all-cause mortality (adjusted HR, 0.79; 0.51-0.98, for every 10-unit increase). Fetuin A levels and GNRI showed a significant interaction in the prediction of CV events (adjusted HR, 1.01; 1.008-1.02) but not for all-cause or CV mortality. In patients with poor nutritional status, higher fetuin A levels were associated with fewer CV events; however, in contrast, in subjects with better nutritional status, higher fetuin A levels appeared to lead to a higher number of CV events. <b><i>Conclusions:</i></b> Fetuin A showed a remarkable interaction with nutritional status in evaluating the risks of CV morbidities in prevalent HD patients.
DOI: 10.6084/m9.figshare.5126998
title: Supplementary Material for: The Impact of Renin-Angiotensin-Aldosterone System Blockade on Contrast-Induced Nephropathy: A Meta-Analysis of 12 Studies with 4,493 Patients

description: <b><i>Objectives:</i></b> This meta-analysis investigated the impact of renin-angiotensin-aldosterone system (RAAS) blockade on the occurrence of contrast-induced nephropathy (CIN). <b><i>Methods:</i></b> Twelve studies comparing the use of RAAS blockade in a total of 4,493 patients undergoing a contrast-using procedure were included. The primary endpoint was the overall postprocedural incidence of CIN. <b><i>Results:</i></b> In the overall pooled analysis, there was no significant difference between the two groups, RAAS blockade ‘used' versus ‘not-used', in the incidence of postprocedural CIN in the random-effects model (OR 1.27, 95% CI 1.77-2.11, p = 0.351, I<sup>2</sup> = 61.9%). In the stratified analysis, however, for chronic RAAS blockade users, the continuation of the drug was significantly associated with a higher incidence of CIN compared with discontinuation (OR 2.06, 95% CI 1.62-2.61, p &lt; 0.001, I<sup>2</sup> = 0.0%). A hazard of continuation was marked in a subgroup of older patients or in patients with chronic kidney disease. For drug-na9ve patients, however, administration of RAAS blockade before contrast procedures did not reduce the development of CIN significantly (OR 0.52, 95% CI 0.23-1.16, p = 0.108, I<sup>2</sup> = 34.2%). <b><i>Conclusion:</i></b> Discontinuation of RAAS blockade in chronic users is associated with a significantly lower incidence of CIN, whereas administration of RAAS blockade as a preventive measure for na9ve patients did not show a significant effect on the incidence of CIN. i 2014 S. Karger AG, Basel