cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5128960
title: Supplementary Material for: Is It Time to Update How Suspected Angina Is Evaluated prior to the Use of Specialized Tests? Implications Based on a Systematic Review

description: <b><i>Objectives:</i></b> Appropriate use of specialized tests to assess chest pain is based classically on minimal information such as age, gender and the patient's description of pain. This approach has not been reevaluated in decades. We examined the relationship between history, examination and routine laboratory tests to identify factors warranting prospective validation as predictors of underlying coronary artery disease (CAD). <b><i>Methods:</i></b> Studies linking obstructive CAD (≥50% diameter stenosis of at least one vessel by invasive angiography or cardiac computed tomographic angiography) and elements of history, examination and laboratory tests were identified. <b><i>Results:</i></b> Forty-one prospectively identified papers were analyzed. Advanced age, gender and chest pain descriptors were extremely important, although the last was less so in women, in whom the presence of risk factors may be more important. Physical examination and chest X-ray were largely noncontributory. Laboratory tests were of variable utility other than to identify risk factors not already known from the history. However, biomarkers such as troponin, brain natriuretic factor and inflammatory markers were promising. The electrocardiogram was mainly important for the identification of ST-T abnormalities. <b><i>Conclusions:</i></b> This review identifies the most promising factors warranting prospective validation for improving the pretest probability estimation of CAD, so appropriate use criteria for the utilization of specialized diagnostic tests can be updated and improved.
DOI: 10.6084/m9.figshare.5128963
title: Supplementary Material for: Organization and Chromosomal Distribution of Histone Genes and Transposable<b><i> Rex</i></b> Elements in the Genome of <b><i>Astyanax bockmanni </i></b>(Teleostei, Characiformes)

description: An important feature of eukaryotic organisms is the number of different repetitive DNA sequences in their genome, a feature not observed in prokaryotes. These sequences are considered to be important components for understanding evolutionary mechanisms and the karyotypic differentiation processes. Thus, we aimed to physically map the histone genes and transposable elements of the <i>Rex</i> family in 6 fish populations of <i>Astyanax bockmanni</i>. FISH results using a histone H1 gene probe showed fluorescent clusters in 2 chromosome pairs in all 6 samples analyzed. In contrast, FISH with a histone H3 probe showed conspicuous blocks in 4 chromosomes in 5 of the 6 populations analyzed. The sixth population revealed 7 chromosomes marked with this probe. Probes for the transposable elements <i>Rex1</i> and <i>Rex6</i> showed small sites dispersed on most chromosomes of the 6 populations, and the <i>Rex3</i> element is located in a big block concentrated in only 1 acrocentric chromosome of 2 populations. As for the other populations, a <i>Rex3 </i>probe showed large blocks in more than 1 chromosome. Fish from Alambari and Campo Novo Stream have <i>Rex3</i> elements dispersed along most of the chromosomes. Additionally, the conspicuous signals of <i>Rex1</i>, <i>Rex3</i>, and <i>Rex6</i> were identified in the acrocentric B microchromosome of <i>A. bockmanni</i> found only in individuals of the Alambari River. Thus, we believe that different mechanisms drive the spread of repetitive sequences among the populations analyzed, which appear to be organized differently in the genome of <i>A. bockmanni</i>. The presence of transposable elements in the B chromosome also suggests that these sequences could play a role in the origin and maintenance of the supernumerary element in the genome of this species.
DOI: 10.6084/m9.figshare.5128966
title: Supplementary Material for: A Randomised Crossover Trial: The Effect of Inulin on Glucose Homeostasis in Subtypes of Prediabetes

description: <b><i>Background:</i></b> Fermentable carbohydrates (FCHO) have been shown to improve insulin sensitivity in normoglycaemic and insulin-resistant subjects. However, there are no data on subjects with prediabetes. We aimed to investigate the effect of the FCHO inulin, on glucose homeostasis in subjects with prediabetes. <b><i>Methods:</i></b> In a double-blind and placebo-controlled crossover study, 40 volunteers with prediabetes were randomly allocated to take 30 g/day of inulin or cellulose for 2 weeks in a crossover trial, following a 4-week dose-escalation run-in. Fasting insulin and glucose were measured for all subjects. Fifteen of the 40 subjects also underwent a meal tolerance test to assess insulin sensitivity, free fatty acids and glucagon-like peptide-1 concentrations. A subanalysis was carried out to examine any differences between the prediabetes subtypes. <b><i>Results:</i></b> Inulin was associated with a significant increase in <sub>(0-30 min)</sub>incremental AUC (iAUC) for insulin (treatment: p &lt; 0.04) and <sub>(0-60 min)</sub>iAUC for insulin (treatment: p &lt; 0.04) compared to control. There was a significant reduction in insulin resistance measured by the homeostatic model assessment in the isolated-impaired fasting glucose (p &lt; 0.05) but not in the isolated-impaired glucose tolerance groups (p = 0.59). <b><i>Conclusion:</i></b> The FCHO, inulin, may have unique metabolic effects that are of particular benefit to people at risk of diabetes, which warrant further investigation.
DOI: 10.6084/m9.figshare.5128954
title: Supplementary Material for: Impact of Socioeconomic Status and Ethnicity on Melanoma Presentation and Recurrence in Caucasian Patients

description: <b><i>Objectives:</i></b> The impact of ethnicity and the socioeconomic status (SES) among Caucasians is not well studied. Here, we examine the impact of income on melanoma presentation and prognosis within a Caucasian cohort, accounting for ethnicity, as some reports suggest increased melanoma incidence in Ashkenazi Jewish (AJ) <i>BRCA</i> mutation carriers. <b><i>Methods:</i></b> We studied prospectively enrolled primary melanoma patients at New York University. SES data were estimated using United States' Census Bureau data and patient zip codes. We evaluated associations between ethnicity, SES, and baseline characteristics using the χ<sup>2</sup> test and multivariate logistic regression. We compared survival distributions using Kaplan-Meier curves, log-rank tests, and Cox proportional hazard ratios. <b><i>Results:</i></b> Of the 1,339 enrolled patients, AJ represented 32% (n = 423). Apart from AJ being older at presentation (p &lt; 0.001), no significant differences were observed in baseline characteristics between ethnic groups. Patients with a median household income (MHI) lower than the median of the cohort were significantly more likely to present with advanced stages (p &lt; 0.001) compared to patients with a higher MHI. Shorter overall (p = 0.016) and post-recurrence survival (p = 0.042) was also observed in patients from lower-income households. <b><i>Conclusion:</i></b> Data suggest that disparities in melanoma presentation in Caucasians stratify according to income independent of ethnic background.
DOI: 10.6084/m9.figshare.5128960.v1
title: Supplementary Material for: Is It Time to Update How Suspected Angina Is Evaluated prior to the Use of Specialized Tests? Implications Based on a Systematic Review

description: <b><i>Objectives:</i></b> Appropriate use of specialized tests to assess chest pain is based classically on minimal information such as age, gender and the patient's description of pain. This approach has not been reevaluated in decades. We examined the relationship between history, examination and routine laboratory tests to identify factors warranting prospective validation as predictors of underlying coronary artery disease (CAD). <b><i>Methods:</i></b> Studies linking obstructive CAD (≥50% diameter stenosis of at least one vessel by invasive angiography or cardiac computed tomographic angiography) and elements of history, examination and laboratory tests were identified. <b><i>Results:</i></b> Forty-one prospectively identified papers were analyzed. Advanced age, gender and chest pain descriptors were extremely important, although the last was less so in women, in whom the presence of risk factors may be more important. Physical examination and chest X-ray were largely noncontributory. Laboratory tests were of variable utility other than to identify risk factors not already known from the history. However, biomarkers such as troponin, brain natriuretic factor and inflammatory markers were promising. The electrocardiogram was mainly important for the identification of ST-T abnormalities. <b><i>Conclusions:</i></b> This review identifies the most promising factors warranting prospective validation for improving the pretest probability estimation of CAD, so appropriate use criteria for the utilization of specialized diagnostic tests can be updated and improved.
DOI: 10.6084/m9.figshare.5128963.v1
title: Supplementary Material for: Organization and Chromosomal Distribution of Histone Genes and Transposable<b><i> Rex</i></b> Elements in the Genome of <b><i>Astyanax bockmanni </i></b>(Teleostei, Characiformes)

description: An important feature of eukaryotic organisms is the number of different repetitive DNA sequences in their genome, a feature not observed in prokaryotes. These sequences are considered to be important components for understanding evolutionary mechanisms and the karyotypic differentiation processes. Thus, we aimed to physically map the histone genes and transposable elements of the <i>Rex</i> family in 6 fish populations of <i>Astyanax bockmanni</i>. FISH results using a histone H1 gene probe showed fluorescent clusters in 2 chromosome pairs in all 6 samples analyzed. In contrast, FISH with a histone H3 probe showed conspicuous blocks in 4 chromosomes in 5 of the 6 populations analyzed. The sixth population revealed 7 chromosomes marked with this probe. Probes for the transposable elements <i>Rex1</i> and <i>Rex6</i> showed small sites dispersed on most chromosomes of the 6 populations, and the <i>Rex3</i> element is located in a big block concentrated in only 1 acrocentric chromosome of 2 populations. As for the other populations, a <i>Rex3 </i>probe showed large blocks in more than 1 chromosome. Fish from Alambari and Campo Novo Stream have <i>Rex3</i> elements dispersed along most of the chromosomes. Additionally, the conspicuous signals of <i>Rex1</i>, <i>Rex3</i>, and <i>Rex6</i> were identified in the acrocentric B microchromosome of <i>A. bockmanni</i> found only in individuals of the Alambari River. Thus, we believe that different mechanisms drive the spread of repetitive sequences among the populations analyzed, which appear to be organized differently in the genome of <i>A. bockmanni</i>. The presence of transposable elements in the B chromosome also suggests that these sequences could play a role in the origin and maintenance of the supernumerary element in the genome of this species.
DOI: 10.6084/m9.figshare.5128951
title: Supplementary Material for: Cholinesterase Inhibitor Donepezil Increases Mitochondrial Biogenesis through AMP-Activated Protein Kinase in the Hippocampus

description: <b><i>Objective:</i></b> Donepezil, a widely prescribed drug for Alzheimer's disease (AD), is now considered to have multimodal actions beyond cholinesterase inhibition. We aimed to see whether donepezil enhances mitochondrial biogenesis and relevant signaling pathways since mitochondrial dysfunction is a key feature of the hypometabolic AD brain. <b><i>Methods:</i></b> As a metabolic gauge, AMP-activated protein kinase (AMPK) was investigated as a tentative mediator of neurometabolic action of donepezil. Changes in phospho-AMPK levels, mitochondrial biogenesis, and ATP levels were measured upon donepezil treatment using neuroblastoma cells, primary cultured neurons and ex vivo hippocampal tissue of adult mice. <b><i>Results:</i></b> Donepezil dose-dependently increased mitochondrial biogenesis and ATP levels as well as expression of PGC-1α and NRF-1 in neuroblastoma cells. Donepezil dose-dependently activated AMPK; however, inhibition of AMPK abolished the observed effects of donepezil, indicating that AMPK is a key mediator of donepezil's action. Notably, mitochondrial biogenesis upon donepezil treatment was mainly observed within dendritic regions of primary cultured hippocampal neurons. Levels of synaptic markers were also increased by donepezil. Finally, AMPK- dependent mitochondrial biogenesis by donepezil was confirmed in organotypic hippocampal tissue. <b><i>Conclusions:</i></b> Our findings indicate that AMPK/PGC-1α signaling is involved in beneficial actions of donepezil on neurometabolism. Pharmacological activation of AMPK might be a promising approach to counteract AD pathogenesis associated with brain hypometabolism.
DOI: 10.6084/m9.figshare.5128957
title: Supplementary Material for: Genetic Testing Awareness and Attitudes among Latinos: Exploring Shared Perceptions and Gender-Based Differences

description: <b><i>Background:</i></b> Latinos, whose views are infrequently examined in genomic research, may be at risk of missing out on the benefits of genomic medicine. <b><i>Aims:</i></b> To explore this possibility, we conducted a qualitative study of awareness and attitudes about genetic testing among Latinos with lower acculturation in New York City. <b><i>Methods:</i></b> We conducted four focus groups (7 English-speaking men, 5 Spanish-speaking men, 13 English-speaking women and 13 Spanish-speaking women) to explore factors that influence the adoption of new innovations through the discussion of genetic testing in general, and a hypothetical vignette describing a genetic test for skin cancer risk, in particular. <b><i>Results:</i></b> Through inductive thematic text analysis of focus group transcripts, our multidisciplinary team identified themes within knowledge and attitudes, communication and sources of information, anticipated responses, factors that may increase adoption, and barriers to adoption of genetic testing. Specifically, a majority of participants expressed some degree of uncertainty regarding the purpose of genetic tests and information these tests provide, rarely discussed genetic testing with others in their social networks, and expressed concerns about the misuse of and possible adverse emotional responses to genetic information. However, participants also expressed high levels of interest in receiving a skin cancer genetic test in response to the vignette and believed that receiving actionable health information was a primary reason to consider testing. Gender-based differences in perceived barriers to testing emerged. <b><i>Conclusions:</i></b> The results highlight beliefs and barriers that future interventions could target to help ensure that Latinos have adequate understanding of and access to genomic medicine advances.
DOI: 10.6084/m9.figshare.5128948
title: Supplementary Material for: Subpubic Arch Angle and Mode of Delivery in Low-Risk Nulliparous Women

description: <b><i>Objective:</i></b> To assess whether subpubic arch angle (SPA) measurement before labor onset can predict labor outcome among low-risk pregnant women. <b><i>Methods:</i></b> 3D ultrasound volume was transperineally acquired from a series of nulliparous women with uncomplicated pregnancy at term before the onset of labor. SPA was measured offline using Oblique View Extended Imaging (OVIX) on each volume performed by an investigator not involved in the clinical management. Labor outcome was prospectively investigated in the whole study group. <b><i>Results:</i></b> Overall, 145 women were enrolled in the study. Of these, 83 underwent spontaneous vaginal delivery, whereas obstetric intervention was performed in 62 cases (Cesarean section in 40 and vacuum extraction in 22). The SPA appeared to be significantly narrower in the women submitted to obstetric intervention compared with those undergoing spontaneous vaginal delivery (116.8 ± 10.3° vs. 123.7 ± 9.6°, p &lt; 0.01). At multivariate analysis SPA and maternal age were identified as independent predictors of the mode of delivery. On the other hand, the duration of labor did not show a significant relationship with SPA. <b><i>Conclusions:</i></b> In low-risk nulliparous women at term gestation, SPA measurement obtained by 3D ultrasound before the onset of labor seems to predict the likelihood of an obstetric intervention but not the duration of labor.
DOI: 10.6084/m9.figshare.5128951.v1
title: Supplementary Material for: Cholinesterase Inhibitor Donepezil Increases Mitochondrial Biogenesis through AMP-Activated Protein Kinase in the Hippocampus

description: <b><i>Objective:</i></b> Donepezil, a widely prescribed drug for Alzheimer's disease (AD), is now considered to have multimodal actions beyond cholinesterase inhibition. We aimed to see whether donepezil enhances mitochondrial biogenesis and relevant signaling pathways since mitochondrial dysfunction is a key feature of the hypometabolic AD brain. <b><i>Methods:</i></b> As a metabolic gauge, AMP-activated protein kinase (AMPK) was investigated as a tentative mediator of neurometabolic action of donepezil. Changes in phospho-AMPK levels, mitochondrial biogenesis, and ATP levels were measured upon donepezil treatment using neuroblastoma cells, primary cultured neurons and ex vivo hippocampal tissue of adult mice. <b><i>Results:</i></b> Donepezil dose-dependently increased mitochondrial biogenesis and ATP levels as well as expression of PGC-1α and NRF-1 in neuroblastoma cells. Donepezil dose-dependently activated AMPK; however, inhibition of AMPK abolished the observed effects of donepezil, indicating that AMPK is a key mediator of donepezil's action. Notably, mitochondrial biogenesis upon donepezil treatment was mainly observed within dendritic regions of primary cultured hippocampal neurons. Levels of synaptic markers were also increased by donepezil. Finally, AMPK- dependent mitochondrial biogenesis by donepezil was confirmed in organotypic hippocampal tissue. <b><i>Conclusions:</i></b> Our findings indicate that AMPK/PGC-1α signaling is involved in beneficial actions of donepezil on neurometabolism. Pharmacological activation of AMPK might be a promising approach to counteract AD pathogenesis associated with brain hypometabolism.
DOI: 10.6084/m9.figshare.5128957.v1
title: Supplementary Material for: Genetic Testing Awareness and Attitudes among Latinos: Exploring Shared Perceptions and Gender-Based Differences

description: <b><i>Background:</i></b> Latinos, whose views are infrequently examined in genomic research, may be at risk of missing out on the benefits of genomic medicine. <b><i>Aims:</i></b> To explore this possibility, we conducted a qualitative study of awareness and attitudes about genetic testing among Latinos with lower acculturation in New York City. <b><i>Methods:</i></b> We conducted four focus groups (7 English-speaking men, 5 Spanish-speaking men, 13 English-speaking women and 13 Spanish-speaking women) to explore factors that influence the adoption of new innovations through the discussion of genetic testing in general, and a hypothetical vignette describing a genetic test for skin cancer risk, in particular. <b><i>Results:</i></b> Through inductive thematic text analysis of focus group transcripts, our multidisciplinary team identified themes within knowledge and attitudes, communication and sources of information, anticipated responses, factors that may increase adoption, and barriers to adoption of genetic testing. Specifically, a majority of participants expressed some degree of uncertainty regarding the purpose of genetic tests and information these tests provide, rarely discussed genetic testing with others in their social networks, and expressed concerns about the misuse of and possible adverse emotional responses to genetic information. However, participants also expressed high levels of interest in receiving a skin cancer genetic test in response to the vignette and believed that receiving actionable health information was a primary reason to consider testing. Gender-based differences in perceived barriers to testing emerged. <b><i>Conclusions:</i></b> The results highlight beliefs and barriers that future interventions could target to help ensure that Latinos have adequate understanding of and access to genomic medicine advances.
DOI: 10.6084/m9.figshare.5128942
title: Supplementary Material for: Die Effekte interozeptiver Expositionsübungen in der Kognitiven Verhaltenstherapie von Panikstörung mit Agoraphobie

description: <b><i>Hintergrund:</i></b> In der Kognitiven Verhaltenstherapie (KVT) der Panikstörung mit Agoraphobie (PD/AG) werden häufig Körperübungen zur Symptomprovokation (interozeptive Exposition) eingesetzt, jedoch liegen kaum systematische, empirische Untersuchungen zu Wirkung und Wirkweise dieser Übungen vor. Ziel der vorliegenden Studie war die Charakterisierung individueller Reaktionen auf interozeptive Übungen sowie die mit der Wiederholung der Übungen verbundenen Veränderungen dieser Reaktionen. <b><i>Patienten und Methoden:</i></b> Selbstberichtdaten zu ausgelösten Körpersymptomen sowie Symptom- und Angststärken von 301 Patienten mit PD/AG, die verschiedene interozeptive Übungen durchführten, wurden ausgewertet. Die Durchführung der interozeptiven Exposition erfolgte im Rahmen einer manualisierten KVT des Psychotherapieverbundes «Panik-Netz». <b><i>Ergebnisse:</i></b> Interozeptive Exposition löste Körpersymptome und damit verbunden Angst aus. Am häufigsten wurden vestibuläre, respiratorische und kardiovaskuläre Symptome ausgelöst. Die stärkste Symptomausprägung verbunden mit der stärksten Angst erzeugten die Übungen «Drehen», «Hyperventilieren» und «Strohhalmatmung». Übungswiederholung bewirkte eine Reduktion der Symptom- und Angststärken, insbesondere die Übungen «Drehen», «Strohhalmatmung» und «Hyperventilieren». <b><i>Diskussion und Schlussfolgerungen:</i></b> Interozeptive Exposition ist gut geeignet zur Auslösung von Körpersymptomen und zur Reduktion der damit verbundenen Symptom- und Angststärke, insbesondere über die Übungen «Drehen», «Hyperventilieren» und «Strohhalmatmung». Zur größeren Angst- und Symptomstärkenreduktion empfiehlt sich eine hohe Wiederholungsrate. Die Relevanz respiratorischer, vestibulärer und kardiovaskulärer Symptome für den Behandlungserfolg sollte weiterführend untersucht werden.
DOI: 10.6084/m9.figshare.5128945
title: Supplementary Material for: A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

description: We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome sequencing and comparative genome hybridization array, we identified a de novo <i>MLL/KMT2A</i> gene nonsense mutation which explains the WDSTS phenotype. In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of <i>DAAM2</i> and <i>MOCS1</i> genes and a de novo<i> LRRC33/NRROS</i> gene mutation. These genes, some of which are expressed during mouse gonadal development, could be considered as potentially new candidate genes for DSD.