cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5126062
title: Supplementary Material for: Breath Analysis in Real Time by Mass Spectrometry in Chronic Obstructive Pulmonary Disease

description: <b><i>Background:</i></b> It has been suggested that exhaled breath contains relevant information on health status. <b><i>Objectives:</i></b> We hypothesized that a novel mass spectrometry (MS) technique to analyze breath in real time could be useful to differentiate breathprints from chronic obstructive pulmonary disease (COPD) patients and controls (smokers and nonsmokers). <b><i>Methods:</i></b> We studied 61 participants including 25 COPD patients [Global Initiative for Obstructive Lung Disease (GOLD) stages I-IV], 25 nonsmoking controls and 11 smoking controls. We analyzed their breath by MS in real time. Raw mass spectra were then processed and statistically analyzed. <b><i>Results:</i></b> A panel of discriminating mass-spectral features was identified for COPD (all stages; n = 25) versus healthy nonsmokers (n = 25), COPD (all stages; n = 25) versus healthy smokers (n = 11) and mild COPD (GOLD stages I/II; n = 13) versus severe COPD (GOLD stages III/IV; n = 12). A blind classification (i.e. leave-one-out cross validation) resulted in 96% sensitivity and 72.7% specificity (COPD vs. smoking controls), 88% sensitivity and 92% specificity (COPD vs. nonsmoking controls) and 92.3% sensitivity and 83.3% specificity (GOLD I/II vs. GOLD III/IV). Acetone and indole were identified as two of the discriminating exhaled molecules. <b><i>Conclusions:</i></b> We conclude that real-time MS may be a useful technique to analyze and characterize the metabolome of exhaled breath. The acquisition of breathprints in a rapid manner may be valuable to support COPD diagnosis and to gain insight into the disease.
DOI: 10.6084/m9.figshare.5126062.v1
title: Supplementary Material for: Breath Analysis in Real Time by Mass Spectrometry in Chronic Obstructive Pulmonary Disease

description: <b><i>Background:</i></b> It has been suggested that exhaled breath contains relevant information on health status. <b><i>Objectives:</i></b> We hypothesized that a novel mass spectrometry (MS) technique to analyze breath in real time could be useful to differentiate breathprints from chronic obstructive pulmonary disease (COPD) patients and controls (smokers and nonsmokers). <b><i>Methods:</i></b> We studied 61 participants including 25 COPD patients [Global Initiative for Obstructive Lung Disease (GOLD) stages I-IV], 25 nonsmoking controls and 11 smoking controls. We analyzed their breath by MS in real time. Raw mass spectra were then processed and statistically analyzed. <b><i>Results:</i></b> A panel of discriminating mass-spectral features was identified for COPD (all stages; n = 25) versus healthy nonsmokers (n = 25), COPD (all stages; n = 25) versus healthy smokers (n = 11) and mild COPD (GOLD stages I/II; n = 13) versus severe COPD (GOLD stages III/IV; n = 12). A blind classification (i.e. leave-one-out cross validation) resulted in 96% sensitivity and 72.7% specificity (COPD vs. smoking controls), 88% sensitivity and 92% specificity (COPD vs. nonsmoking controls) and 92.3% sensitivity and 83.3% specificity (GOLD I/II vs. GOLD III/IV). Acetone and indole were identified as two of the discriminating exhaled molecules. <b><i>Conclusions:</i></b> We conclude that real-time MS may be a useful technique to analyze and characterize the metabolome of exhaled breath. The acquisition of breathprints in a rapid manner may be valuable to support COPD diagnosis and to gain insight into the disease.
DOI: 10.6084/m9.figshare.5126065
title: Supplementary Material for: Elevated Osteoprotegerin Predicts Declining Renal Function in Elderly Women: A 10-Year Prospective Cohort Study

description: <b><i>Background:</i></b> Elevated osteoprotegerin (OPG) levels are inversely correlated with creatinine clearance and end-stage renal disease in patients with diabetes, however its role in predicting decline in renal function and progression to a more advanced stage disease in the elderly general population is unknown. <b><i>Methods:</i></b> This was a prospective cohort study of 1,157 elderly women with serum OPG measured in 1998 and renal function estimated using serum creatinine and cystatin C-based estimated glomerular filtration rate (eGFR) at 5-yearly intervals. The primary objective of the study was to determine the relationship of circulating OPG levels with 5- and 10-year renal decline. <b><i>Results:</i></b> At baseline, participants with elevated OPG above the median (≥2.2 ng/ml) had a 5.0% lower CKD-EPI-creatinine and cystatin C eGFR compared to participants with lower OPG levels. In multivariable-adjusted linear regression models, elevated OPG levels at baseline were associated with greater 5- and 10-year decline in CKD-EPI-creatinine and cystatin C eGFR (-0.105, p = 0.002 and -0.104, p = 0.010, respectively). Elevated OPG at baseline was associated with increased 5- and 10-year risk of rapid renal decline (OR 2.13, 95% CI 1.33-3.43, p = 0.002 and OR 4.10, 95% CI 1.49-11.27, p = 0.006, respectively) and renal disease hospitalizations or deaths (HR 1.99, 95% CI 1.31-3.03, p = 0.001) after adjusting for known risk factors. <b><i>Conclusion:</i></b> Elevated OPG levels are associated with long-term renal dysfunction and may be provide a useful biomarker to predict the trajectory of renal decline in older women.
DOI: 10.6084/m9.figshare.5126053
title: Supplementary Material for: Essential Tremor in aCharcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

description: <b><i>Background:</i></b> We investigated 4 members of a family with type 2C Charcot-Marie-Tooth (CMT) and self-reported essential tremor (ET). A heterozygous missense mutation, R269H, in the TRPV4 gene was previously reported in this family. Our genotypic data provided a rare opportunity to determine the etiology of the tremor. <b><i>Methods:</i></b> Family study; the 4 tremor cases underwent a detailed neurological assessment. <b><i>Results:</i></b> The clinical diagnosis of ET was confirmed in all 4 tremor cases based on stringent published research criteria. Two of these also had CMT. We genotyped all 4 family members for the TRPV4 R269H mutation. We confirmed the presence of the TRPV4 R269H mutation in the 2 family members with ET and CMT; however, the TRPV4 R269H mutation did not segregate with ET in the same family. <b><i>Conclusions:</i></b> In this particular CMT family, the tremor was clinically attributed to ET. Furthermore, genotype data indicated that the tremor was unlikely to be caused by incomplete penetrance or variable expressivity of the TRPV4 R269H mutation. Hence, the tremor likely represents ET. This establishes that in some CMT families the tremor diathesis likely represents a second disorder, namely ET.
DOI: 10.6084/m9.figshare.5126056
title: Supplementary Material for: The Incidence and Risk Factors of Infusion-Related Reactions to Rituximab for Treating B Cell Malignancies in a Single Tertiary Hospital

description: <b><i>Background:</i></b> Rituximab is a chimeric anti-CD20 human/mouse monoclonal antibody. As its usage has increased, there have been growing concerns about rituximab-related infusion-related reactions (IRRs). <b><i>Objective:</i></b> The aim of this study is to verify the clinical features and risk factors of IRRs by rituximab, and to help establish clinical guidelines for their prevention. <b><i>Methods:</i></b> We reviewed electronic medical records of all the adult patients who were prescribed rituximab from January 2005 to July 2010 for B cell malignancy at Seoul National University Hospital. <b><i>Results:</i></b> A total of 389 cases of IRRs by rituximab (12.5% of a total of 3,104 infusions) were identified in 281 patients (49.4% of a total of 568 patients). IRRs most frequently occurred during the first infusion (40.5%) and abruptly decreased in subsequent infusions to rates of 3-8% (p &lt; 0.001). The incidence of IRRs in patients premedicated with corticosteroid for their first infusion was significantly lower when compared to patients not pretreated with corticosteroid prior to rituximab infusion (8.3 vs. 41.2%, p = 0.017). <b><i>Conclusion:</i></b> Almost half of all patients in the study experienced IRRs at least once during their scheduled rituximab treatment. Premedication with corticosteroid can be recommended in patients with high risk of IRR in the first infusion.
DOI: 10.6084/m9.figshare.5126059
title: Supplementary Material for: Do American Goldfinches See Their World Like Passive Prey Foragers? A Study on Visual Fields, Retinal Topography, and Sensitivity of Photoreceptors

description: Several species of the most diverse avian order, Passeriformes, specialize in foraging on passive prey, although relatively little is known about their visual systems. We tested whether some components of the visual system of the American goldfinch <i>(Spinus tristis),</i> a granivorous bird, followed the profile of species seeking passive food items (small eye size relative to body mass, narrow binocular fields and blind areas, centrally located retinal specialization projecting laterally, ultraviolet-sensitive vision). We measured eye size, visual field configuration, the degree of eye movement, variations in the density of ganglion cells and cone photoreceptors, and the sensitivity of photoreceptor visual pigments and oil droplets. Goldfinches had relatively large binocular (46°) and lateral (134°) visual fields with a high degree of eye movement (66° at the plane of the bill). They had a single centrotemporally located fovea that projects laterally, but can be moved closer to the edge of the binocular field by converging the eyes. Goldfinches could also increase their panoramic vision by diverging their eyes while handling food items in head-up positions. The distribution of photoreceptors indicated that the highest density of single and double cones was surrounding the fovea, making it the center of chromatic and achromatic vision and motion detection. Goldfinches possessed a tetrachromatic ultraviolet visual system with visual pigment peak sensitivities of 399 nm (ultraviolet-sensitive cone), 442 nm (short-wavelength-sensitive cone), 512 nm (medium-wavelength-sensitive cone), and 580 nm (long-wavelength-sensitive cone). Overall, the visual system of American goldfinches showed characteristics of passive as well as active prey foragers, with a single-fovea configuration and a large degree of eye movement that would enhance food searching and handling with their relatively wide binocular fields.
DOI: 10.6084/m9.figshare.5126047
title: Supplementary Material for: Calibration and Validation of an Innovative Approach for Estimating General Cognitive Performance

description: <b><i>Objective:</i></b> To evaluate a new approach for creating a composite measure of cognitive function, we calibrated a measure of general cognitive performance from existing neuropsychological batteries. <b><i>Methods:</i></b> We applied our approach in an epidemiological study and scaled the composite to a nationally representative sample of older adults. Criterion validity was evaluated against standard clinical diagnoses. Convergent validity was evaluated against the Mini-Mental State Examination (MMSE). <b><i>Results:</i></b> The general cognitive performance factor was scaled to have a mean of 50 and standard deviation of 10 in a nationally representative sample of older adults. A cutoff point of approximately 45, corresponding to an MMSE of 23/24, optimally discriminated participants with and without dementia (sensitivity = 0.94, specificity = 0.90, area under the curve = 0.97). The general cognitive performance factor was internally consistent (Cronbach's α = 0.91) and provided reliable measures of functional ability across a wide range of cognitive functioning. It demonstrated minimal floor and ceiling effects, which is an improvement over most individual cognitive tests. <b><i>Conclusions:</i></b> The cognitive composite is a highly reliable measure, with minimal floor and ceiling effects. We calibrated it using a nationally representative sample of adults over the age of 70 in the USA and established diagnostically relevant cutoff points. Our methods can be used to harmonize neuropsychological test results across diverse settings and studies.
DOI: 10.6084/m9.figshare.5126050
title: Supplementary Material for: Das letzte Mittel? Ein Überblick über die politische Diskussion und den Forschungsstand zum Einsatz medikamentöser Zwangsbehandlung in der Psychiatrie

description: Die Diskussion über den Einsatz medikamentöser Zwangsbehandlung ist durch veränderte Rechtsgrundlagen neu entfacht. Der folgende Beitrag führt in die Aspekte der rechtlichen Grundlagen ein, gibt Kernpositionen der laufenden politischen Diskussion wieder und geht anschließend anhand empirischer Untersuchungen den Fragen nach, wie häufig medikamentöse Zwangsbehandlungen zum Einsatz kommen, wie sie von den Betroffenen erlebt und bewertet werden und ob sie nachweislich effektiv sind. Aus epidemiologischen Studien wird ersichtlich, dass die Häufigkeit von Zwangsmedikation innerhalb Deutschlands und international erheblich variiert. Qualitative Daten in verschiedenen Kontexten weisen darauf hin, dass Zwangsmedikation bei vielen Betroffenen mit Angst, Ärger, Scham und Hilflosigkeit einhergeht und traumatisierend sein kann. Retrospektive Untersuchungen zeigen, dass Zwangsmedikation von etwa der Hälfte der Betroffenen im Nachhinein als richtig bewertet wird. Belastbare empirische Belege für eine unmittelbare oder längerfristige Wirkung von Zwangsmedikation im Hinblick auf Aggressivität, Erregung, und Symptomatik fehlen. Aus empirischer Sicht erscheinen Zwangsbehandlungen demnach eher nicht gerechtfertigt, wobei belastbare Studien aus ethischen Gründen auch schwer zu erbringen sind. Aufgrund der ausgeprägten Schwankungen in der Prävalenz ist ferner fraglich, ob der Spielraum, auf Zwang zu verzichten und mildere Mittel anzuwenden bislang bereits in allen Kliniken hinreichend ausgeschöpft wurde. Vielversprechende Ansatzpunkte für die Vermeidung von Zwangsbehandlungen liegen in einer stärker aufsuchenden Behandlung, dem systematischen Einsatz milderer Mittel in Krisensituationen, Behandlungsvereinbarungen und der Weiterentwicklung von psychotherapeutischen Behandlungsalternativen. Das Potenzial solcher Alternativen sollte stärker genutzt und erforscht werden.
DOI: 10.6084/m9.figshare.5126056.v1
title: Supplementary Material for: The Incidence and Risk Factors of Infusion-Related Reactions to Rituximab for Treating B Cell Malignancies in a Single Tertiary Hospital

description: <b><i>Background:</i></b> Rituximab is a chimeric anti-CD20 human/mouse monoclonal antibody. As its usage has increased, there have been growing concerns about rituximab-related infusion-related reactions (IRRs). <b><i>Objective:</i></b> The aim of this study is to verify the clinical features and risk factors of IRRs by rituximab, and to help establish clinical guidelines for their prevention. <b><i>Methods:</i></b> We reviewed electronic medical records of all the adult patients who were prescribed rituximab from January 2005 to July 2010 for B cell malignancy at Seoul National University Hospital. <b><i>Results:</i></b> A total of 389 cases of IRRs by rituximab (12.5% of a total of 3,104 infusions) were identified in 281 patients (49.4% of a total of 568 patients). IRRs most frequently occurred during the first infusion (40.5%) and abruptly decreased in subsequent infusions to rates of 3-8% (p &lt; 0.001). The incidence of IRRs in patients premedicated with corticosteroid for their first infusion was significantly lower when compared to patients not pretreated with corticosteroid prior to rituximab infusion (8.3 vs. 41.2%, p = 0.017). <b><i>Conclusion:</i></b> Almost half of all patients in the study experienced IRRs at least once during their scheduled rituximab treatment. Premedication with corticosteroid can be recommended in patients with high risk of IRR in the first infusion.
DOI: 10.6084/m9.figshare.5126047.v1
title: Supplementary Material for: Calibration and Validation of an Innovative Approach for Estimating General Cognitive Performance

description: <b><i>Objective:</i></b> To evaluate a new approach for creating a composite measure of cognitive function, we calibrated a measure of general cognitive performance from existing neuropsychological batteries. <b><i>Methods:</i></b> We applied our approach in an epidemiological study and scaled the composite to a nationally representative sample of older adults. Criterion validity was evaluated against standard clinical diagnoses. Convergent validity was evaluated against the Mini-Mental State Examination (MMSE). <b><i>Results:</i></b> The general cognitive performance factor was scaled to have a mean of 50 and standard deviation of 10 in a nationally representative sample of older adults. A cutoff point of approximately 45, corresponding to an MMSE of 23/24, optimally discriminated participants with and without dementia (sensitivity = 0.94, specificity = 0.90, area under the curve = 0.97). The general cognitive performance factor was internally consistent (Cronbach's α = 0.91) and provided reliable measures of functional ability across a wide range of cognitive functioning. It demonstrated minimal floor and ceiling effects, which is an improvement over most individual cognitive tests. <b><i>Conclusions:</i></b> The cognitive composite is a highly reliable measure, with minimal floor and ceiling effects. We calibrated it using a nationally representative sample of adults over the age of 70 in the USA and established diagnostically relevant cutoff points. Our methods can be used to harmonize neuropsychological test results across diverse settings and studies.
DOI: 10.6084/m9.figshare.5126050.v1
title: Supplementary Material for: Das letzte Mittel? Ein Überblick über die politische Diskussion und den Forschungsstand zum Einsatz medikamentöser Zwangsbehandlung in der Psychiatrie

description: Die Diskussion über den Einsatz medikamentöser Zwangsbehandlung ist durch veränderte Rechtsgrundlagen neu entfacht. Der folgende Beitrag führt in die Aspekte der rechtlichen Grundlagen ein, gibt Kernpositionen der laufenden politischen Diskussion wieder und geht anschließend anhand empirischer Untersuchungen den Fragen nach, wie häufig medikamentöse Zwangsbehandlungen zum Einsatz kommen, wie sie von den Betroffenen erlebt und bewertet werden und ob sie nachweislich effektiv sind. Aus epidemiologischen Studien wird ersichtlich, dass die Häufigkeit von Zwangsmedikation innerhalb Deutschlands und international erheblich variiert. Qualitative Daten in verschiedenen Kontexten weisen darauf hin, dass Zwangsmedikation bei vielen Betroffenen mit Angst, Ärger, Scham und Hilflosigkeit einhergeht und traumatisierend sein kann. Retrospektive Untersuchungen zeigen, dass Zwangsmedikation von etwa der Hälfte der Betroffenen im Nachhinein als richtig bewertet wird. Belastbare empirische Belege für eine unmittelbare oder längerfristige Wirkung von Zwangsmedikation im Hinblick auf Aggressivität, Erregung, und Symptomatik fehlen. Aus empirischer Sicht erscheinen Zwangsbehandlungen demnach eher nicht gerechtfertigt, wobei belastbare Studien aus ethischen Gründen auch schwer zu erbringen sind. Aufgrund der ausgeprägten Schwankungen in der Prävalenz ist ferner fraglich, ob der Spielraum, auf Zwang zu verzichten und mildere Mittel anzuwenden bislang bereits in allen Kliniken hinreichend ausgeschöpft wurde. Vielversprechende Ansatzpunkte für die Vermeidung von Zwangsbehandlungen liegen in einer stärker aufsuchenden Behandlung, dem systematischen Einsatz milderer Mittel in Krisensituationen, Behandlungsvereinbarungen und der Weiterentwicklung von psychotherapeutischen Behandlungsalternativen. Das Potenzial solcher Alternativen sollte stärker genutzt und erforscht werden.
DOI: 10.6084/m9.figshare.5126053.v1
title: Supplementary Material for: Essential Tremor in aCharcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

description: <b><i>Background:</i></b> We investigated 4 members of a family with type 2C Charcot-Marie-Tooth (CMT) and self-reported essential tremor (ET). A heterozygous missense mutation, R269H, in the TRPV4 gene was previously reported in this family. Our genotypic data provided a rare opportunity to determine the etiology of the tremor. <b><i>Methods:</i></b> Family study; the 4 tremor cases underwent a detailed neurological assessment. <b><i>Results:</i></b> The clinical diagnosis of ET was confirmed in all 4 tremor cases based on stringent published research criteria. Two of these also had CMT. We genotyped all 4 family members for the TRPV4 R269H mutation. We confirmed the presence of the TRPV4 R269H mutation in the 2 family members with ET and CMT; however, the TRPV4 R269H mutation did not segregate with ET in the same family. <b><i>Conclusions:</i></b> In this particular CMT family, the tremor was clinically attributed to ET. Furthermore, genotype data indicated that the tremor was unlikely to be caused by incomplete penetrance or variable expressivity of the TRPV4 R269H mutation. Hence, the tremor likely represents ET. This establishes that in some CMT families the tremor diathesis likely represents a second disorder, namely ET.
DOI: 10.6084/m9.figshare.5126038
title: Supplementary Material for: Predicting First-Year Mortality in Incident Dialysis Patients with End-Stage Renal Disease - The UREA5 Study

description: We aimed to develop a risk prediction model for first-year mortality (FYM) in incident dialysis patients with end-stage renal disease. We retrospectively examined patient comorbidities and biochemistry, prior to dialysis initiation, using a single-center, prospectively maintained database from 2005-2010, and analyzed these variables in relation to FYM. A total of 983 patients were studied. 22% had left ventricular ejection fraction (LVEF) &lt;45%. FYM was 17%, and independent predictors included URate &lt;500 or &gt;600 μmol/l, LVEF &lt;45% (higher odds ratio if &lt;30%), Age &gt;70 years, Arteriopathies (cerebrovascular and/or peripheral-vascular diseases), serum Albumin &lt;30 g/l, and Alkaline phosphatase &gt;80 U/l (p &lt; 0.05, C-statistic 0.74), and these constitute the acronym UREA5. Using linear modeling, risk weightage/integer of 3 was assigned to LVEF &lt;30%, 2 to age &gt;70 years, and 1 to each remaining variable. Cumulative UREA5 scores of ≤1, 2, 3, 4, and ≥5 were associated with FYM of 6, 8, 22, 31, and 46%, respectively (p &lt; 0.0001). Increasing UREA5 scores were strongly associated with stepwise worsening of FYM after dialysis initiation.
DOI: 10.6084/m9.figshare.5126041
title: Supplementary Material for: On Rare-Variant Analysis in Population-Based Designs: Decomposing the Likelihood to Two Informative Components

description: Various analytical approaches have been suggested for the characterization of rare variants. One main approach is to collapse the genetic information of rare variants in a region and to construct an overall test statistic. Here, we proposed a new approach based on collapsed genotype scores. By utilizing the information of the association signal that is ignored in collapsing methods, i.e. the configuration of rare alleles, we constructed a more powerful test and compared it with existing rare-variant approaches. With extensive simulation studies, we showed that our method performs better than existing approaches, and we applied our method to a sequencing study of nonsyndromic cleft lip illustrating the practical advantages of the proposed method.