cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5129404.v1
title: Supplementary Material for: The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population

description: <b><i>Background:</i></b> Huntington disease (HD) has most recently been estimated to affect between 10.6 and 13.7 per 100,000 individuals in European populations. However, prevalence is known to differ geographically. In South Africa, the only published estimates are from a survey performed in the 1970s, an era when the disease was believed to be rare or absent in black individuals and molecular confirmation was absent. The disease phenotype in South Africa is currently attributable to mutations in both the huntington and junctophilin-3 genes, which underlie the well-known HD and the rarer HD-like 2 (HDL2) respectively. This study aimed at providing improved minimum estimates of disease frequency in South Africa, based on molecular genetic testing data. <b><i>Methods:</i></b> A review of all testing records for HD and HDL2 over a 20-year period was undertaken. HDL2 is virtually indistinguishable on clinical features, thus necessitating its inclusion. <b><i>Results:</i></b> Based on molecular diagnostic records, minimum estimates of disease frequency are: 5.1, 2.1 and 0.25 (per 100,000 individuals) for the white, mixed ancestry and black population groups respectively. <b><i>Conclusion:</i></b> Although ascertainment remains incomplete, these minimum estimates suggest that disease frequencies are significantly higher than those previously reported in South Africa.
DOI: 10.6084/m9.figshare.5129407.v1
title: Supplementary Material for: Protection on Skin Aging Mediated by Antiapoptosis Effects of the Water Lily (<b><i>Nymphaea Tetragona</i></b> Georgi) via Reactive Oxygen Species Scavenging in Human Epidermal Keratinocytes

description: <b><i>Aims:</i></b> The water lily (WL) is found in Europe, Asia, and North America. WL reportedly has various pharmacological activities that improve the activities of daily life in humans. To our knowledge, no previous study has investigated about the aspect of protection on skin aging due to the mitochondria-mediated antiapoptosis effects of WL rhizome extract (WLRE) on human epidermal keratinocytes. <b><i>Methods:</i></b> Human epidermal keratinocytes cells were treated with WLRE (100, 200, and 400 μg/ml) for 1 h and then with ultraviolet radiation B (UVB) (50 mJ/cm<sup>2</sup>) for another 23 h. The levels of lactate dehydrogenase, reactive oxygen species (ROS), MitoTracker, caspase-3, and glutathione were analyzed spectrophotometrically. Also, the levels of B-cell lymphoma 2 (Bcl-2) family proteins were determined with immunohistochemistry or western blotting. <b><i>Results:</i></b> We investigated the protective effects of WLRE against UVB-induced mitochondria-mediated apoptosis. WLRE significantly and concentrations-dependently reduced UVB-induced apoptotic cytotoxicity. Furthermore, WLRE decreased ROS generation, mitochondrial dysfunction, Bcl-2-associated X protein levels, and cytochrome c release from mitochondria while increasing Bcl-2 protein levels as assessed. Moreover, WLRE inhibited caspase-3 activity and expression, indicating the inhibition of the apoptotic cascade, and induced increased levels of total glutathione, heme oxygenase 1, and radical-scavenging activity. <b><i>Conclusion:</i></b> Together, these results demonstrate that WLRE can protect human epidermal keratinocytes against UVB-induced mitochondria-mediated apoptosis by regulating ROS-eliminating pathways.
DOI: 10.6084/m9.figshare.5129395
title: Supplementary Material for: In utero Programming of Allergic Susceptibility

description: <b><i>Background:</i></b> Around 30-40% of the world's population will experience allergy, the most common and earliest-onset noncommunicable disease. With a steady rise in the incidence of allergic disease over recent decades, up to 18% of children will suffer a respiratory, food or skin allergy before their 18th birthday. There is compelling evidence that the risk of developing allergy is influenced by early life events and particularly in utero exposures. <b><i>Methods:</i></b> A comprehensive literature review was undertaken which outlines prenatal risk factors and potential mechanisms underlying the development of allergy in childhood. <b><i>Results:</i></b> Exposures including maternal cigarette smoking, preterm birth and Caesarean delivery are implicated in predisposing infants to the later development of allergy. In contrast, restricted growth in utero, a healthy maternal diet and a larger family size are protective, but the mechanisms here are unclear and require further investigation. <b><i>Conclusion:</i></b> To ameliorate the allergy pandemic in young children, we must define prenatal mechanisms that alter the programming of the fetal immune system and also identify specific targets for antenatal interventions.
DOI: 10.6084/m9.figshare.5129410.v1
title: Supplementary Material for: A Genome-Wide Test of the Differential Susceptibility Hypothesis Reveals a Genetic Predictor of Differential Response to Psychological Treatments for Child Anxiety Disorders

description: <b><i>Background:</i></b> The differential susceptibly hypothesis suggests that certain genetic variants moderate the effects of both negative and positive environments on mental health and may therefore be important predictors of response to psychological treatments. Nevertheless, the identification of such variants has so far been limited to preselected candidate genes. In this study we extended the differential susceptibility hypothesis from a candidate gene to a genome-wide approach to test whether a polygenic score of environmental sensitivity predicted response to cognitive behavioural therapy (CBT) in children with anxiety disorders. <b><i>Methods:</i></b> We identified variants associated with environmental sensitivity using a novel method in which within-pair variability in emotional problems in 1,026 monozygotic twin pairs was examined as a function of the pairs' genotype. We created a polygenic score of environmental sensitivity based on the whole-genome findings and tested the score as a moderator of parenting on emotional problems in 1,406 children and response to individual, group and brief parent-led CBT in 973 children with anxiety disorders. <b><i>Results:</i></b> The polygenic score significantly moderated the effects of parenting on emotional problems and the effects of treatment. Individuals with a high score responded significantly better to individual CBT than group CBT or brief parent-led CBT (remission rates: 70.9, 55.5 and 41.6%, respectively). <b><i>Conclusions:</i></b> Pending successful replication, our results should be considered exploratory. Nevertheless, if replicated, they suggest that individuals with the greatest environmental sensitivity may be more likely to develop emotional problems in adverse environments but also benefit more from the most intensive types of treatment.
DOI: 10.6084/m9.figshare.5129389
title: Supplementary Material for: Psychological Distress and Hypertension: Results from the National Health Interview Survey for 2004-2013

description: <b><i>Background/Aims:</i></b> Psychological conditions are increasingly linked with cardiovascular disorders. We aimed to examine the association between psychological distress and hypertension. <b><i>Methods:</i></b> We used data from the National Health Interview Survey for 2004-2013. Hypertension was self-reported and the 6-item Kessler Psychological Distress Scale was used to assess psychological distress (a score ≥13 indicated distress). We used a logistic regression model to test the assumption that hypertension was associated with psychological distress. <b><i>Results:</i></b> Among the study participants completing the survey (n = 288,784), 51% were female; the overall mean age (±SEM) was 35.3 ± 0.02 years and the mean body mass index was 27.5 ± 0.01. In the entire sample, the prevalence of psychological distress was 3.2%. The adjusted odds of reporting hypertension in psychologically distressed individuals was 1.53 (95% CI = 1.31-1.80, p = 0.01). <b><i>Conclusion:</i></b> The findings suggest that psychological distress is associated with higher odds of hypertension after adjusting for other risk factors for high blood pressure. Further studies are needed to confirm these findings and to elucidate the mechanisms by which stress increases hypertension risk.
DOI: 10.6084/m9.figshare.5129392
title: Supplementary Material for: Male Sexual Development and the Androgenic Gland: Novel Insights through the de novo Assembled Transcriptome of the Eastern Spiny Lobster,<b><i> Sagmariasus verreauxi</i></b>

description: The Eastern spiny lobster, <i>Sagmariasus verreauxi</i>, is commercially important in fisheries, with growing aquaculture potential, driving an interest to better understand male sexual differentiation. Amongst the Decapoda<i>, </i>the androgenic gland (AG) and the insulin-like androgenic gland hormone (IAG) have a well-defined function in male sexual differentiation. However, IAG is not a sex determinant and therefore must be considered as part of a broader, integrated pathway. This work uses a transcriptomic, multi-tissue approach to provide an integrated description of male-biased expression as mediated through the AG. Transcriptomic analyses demonstrate that IAG expression is stage- and eyestalk-regulated (low in immature, high in mature and 6-times higher in hypertrophied glands), with IAG being the predominant AG-specific factor. The low expression of this key factor in immature males suggests the involvement of other tissues in male sexual differentiation. Across tissues, the gonad (87.8%) and antennal gland (73.5%) show the highest male-biased differential expression of transcripts and also express 4 sex-determination regulators, known as <i>Dmrts</i>, with broader expression of<i> Sv-Sxl </i>and <i>Sv-TRA-2.</i> In order to better understand male sexual differentiation, tissues other than the AG must also be considered. This research highlights the gonad and antennal gland as showing significant male-biased expression patterns, including the <i>Sv-Dmrts</i>.
DOI: 10.6084/m9.figshare.5129398
title: Supplementary Material for: Die dunkle Seite der Intervention - was hat Placebo mit Psychotherapie zu tun?

description: Medicine
DOI: 10.6084/m9.figshare.5129401.v1
title: Supplementary Material for: Aortic Valve Gradient and Clinical Outcome in Patients Undergoing Transcatheter Aortic Valve Implantation for Severe Aortic Stenosis

description: <b><i>Objectives:</i></b> To explore the relation between the baseline aortic valve gradient (AVG) as a continuous variable and clinical outcomes following transcatheter aortic valve implantation (TAVI) in general and specifically in patients with high-gradient aortic stenosis (AS). <b><i>Methods:</i></b> We reviewed 317 consecutive patients who underwent TAVI at our institution. We investigated the relation between AVG as a continuous/categorical variable and outcome among all patients and in patients without low-flow low-gradient AS, using the Cox proportional hazard model adjusting for multiple prognostic variables. <b><i>Results:</i></b> Patients had a peak AVG of 79.9 ± 22.8 mm Hg (mean 50.5 ±15.7). During a mean follow-up of 2.7 years, AVG was inversely associated with mortality and mortality or cardiac hospitalization. Every 10-mm-Hg increase in peak AVG was associated with 18% reduction in mortality (p = 0.003) and 19% reduction in mortality/cardiac hospitalization (p &lt; 0.001). Every 10-mm-Hg increase in mean AVG was associated with a 24% reduction in both outcomes (p = 0.005 and p &lt; 0.001). Subgroup analysis of patients with left-ventricular ejection fraction &gt;40% or peak AVG &gt;64 mm Hg yielded similar results. <b><i>Conclusions:</i></b> Mean and peak baseline AVGs are directly associated with improved outcomes after TAVI; AVG can be used to select the patients most likely to benefit from TAVI.
DOI: 10.6084/m9.figshare.5129386
title: Supplementary Material for: Second-Line Intraperitoneal Chemotherapy for Recurrent Epithelial Ovarian, Tubal and Peritoneal Cancer: A Propensity Score-Matching Study

description: <b><i>Background:</i></b> The superiority of frontline intraperitoneal (IP) over intravenous (IV) chemotherapy is well established in the treatment of epithelial ovarian cancer. However, the role of IP chemotherapy in the second-line setting has rarely been investigated. <b><i>Methods:</i></b> Consecutive patients diagnosed with recurrent epithelial, tubal and peritoneal cancers between January 2000 and December 2012 were recruited using a propensity score-matching technique to adjust relevant risk factors. <b><i>Results:</i></b> In total, 310 patients were included in the final analysis (94 for platinum-refractory/resistant disease and 216 for platinum-sensitive disease). IP chemotherapy demonstrated significantly longer median progression-free survival than IV chemotherapy (4.9 vs. 2.4 months, p &lt; 0.001, for platinum-refractory/resistant disease, and 9.8 vs. 6.9 months, p &lt; 0.001, for platinum-sensitive disease). <b><i>Conclusions:</i></b> Second-line IP chemotherapy confers longer progression-free survival than IV chemotherapy. Large-scale clinical trials should be conducted to validate the true efficacy.
DOI: 10.6084/m9.figshare.5129383
title: Supplementary Material for: Effects of Obesity on Perivascular Adipose Tissue Vasorelaxant Function: Nitric Oxide, Inflammation and Elevated Systemic Blood Pressure

description: <b><i>Introduction:</i></b> Perivascular adipose tissue (PVAT) surrounds most vessels in the human body. Healthy PVAT has a vasorelaxant effect which is not observed in obesity. We assessed the contribution of nitric oxide (NO), inflammation and endothelium to obesity-induced PVAT damage. <b><i>Methods:</i></b> Rats were fed a high-fat diet or normal chow. PVAT function was assessed using wire myography. Skeletonised and PVAT-intact mesenteric vessels were prepared with and without endothelium. Vessels were incubated with L-NNA or superoxide dismutase (SOD) and catalase. Gluteal fat biopsies were performed on 10 obese and 10 control individuals, and adipose tissue was assessed using proteomic analysis. <b><i>Results:</i></b> In the animals, there were significant correlations between weight and blood pressure (BP; r = 0.5, p = 0.02), weight and PVAT function (r = 0.51, p = 0.02), and PVAT function and BP (r = 0.53, p = 0.01). PVAT-intact vessel segments from healthy animals constricted significantly less than segments from obese animals (p &lt; 0.05). In a healthy state, there was preservation of the PVAT vasorelaxant function after endothelium removal (p &lt; 0.05). In endothelium-denuded vessels, L-NNA attenuated the PVAT vasorelaxant function in control vessels (p &lt; 0.0001). In obesity, incubation with SOD and catalase attenuated PVAT-intact vessel contractility in the presence and absence of endothelium (p &lt; 0.001). In obese humans, SOD [Cu-Zn] (SOD1; fold change -2.4), peroxiredoxin-1 (fold change -2.15) and adiponectin (fold change -2.1) were present in lower abundances than in healthy controls. <b><i>Conclusions:</i></b> Incubation with SOD and catalase restores PVAT vasorelaxant function in animal obesity. In the rodent model, obesity-induced PVAT damage is independent of endothelium and is in part due to reduced NO bioavailability within PVAT. Loss of PVAT function correlates with rising BP in our animal obesity model. In keeping with our hypothesis of inflammation-induced damage to PVAT function in obesity, there are lower levels of SOD1, peroxiredoxin-1 and adiponectin in obese human PVAT.
DOI: 10.6084/m9.figshare.5129389.v1
title: Supplementary Material for: Psychological Distress and Hypertension: Results from the National Health Interview Survey for 2004-2013

description: <b><i>Background/Aims:</i></b> Psychological conditions are increasingly linked with cardiovascular disorders. We aimed to examine the association between psychological distress and hypertension. <b><i>Methods:</i></b> We used data from the National Health Interview Survey for 2004-2013. Hypertension was self-reported and the 6-item Kessler Psychological Distress Scale was used to assess psychological distress (a score ≥13 indicated distress). We used a logistic regression model to test the assumption that hypertension was associated with psychological distress. <b><i>Results:</i></b> Among the study participants completing the survey (n = 288,784), 51% were female; the overall mean age (±SEM) was 35.3 ± 0.02 years and the mean body mass index was 27.5 ± 0.01. In the entire sample, the prevalence of psychological distress was 3.2%. The adjusted odds of reporting hypertension in psychologically distressed individuals was 1.53 (95% CI = 1.31-1.80, p = 0.01). <b><i>Conclusion:</i></b> The findings suggest that psychological distress is associated with higher odds of hypertension after adjusting for other risk factors for high blood pressure. Further studies are needed to confirm these findings and to elucidate the mechanisms by which stress increases hypertension risk.
DOI: 10.6084/m9.figshare.5129383.v1
title: Supplementary Material for: Effects of Obesity on Perivascular Adipose Tissue Vasorelaxant Function: Nitric Oxide, Inflammation and Elevated Systemic Blood Pressure

description: <b><i>Introduction:</i></b> Perivascular adipose tissue (PVAT) surrounds most vessels in the human body. Healthy PVAT has a vasorelaxant effect which is not observed in obesity. We assessed the contribution of nitric oxide (NO), inflammation and endothelium to obesity-induced PVAT damage. <b><i>Methods:</i></b> Rats were fed a high-fat diet or normal chow. PVAT function was assessed using wire myography. Skeletonised and PVAT-intact mesenteric vessels were prepared with and without endothelium. Vessels were incubated with L-NNA or superoxide dismutase (SOD) and catalase. Gluteal fat biopsies were performed on 10 obese and 10 control individuals, and adipose tissue was assessed using proteomic analysis. <b><i>Results:</i></b> In the animals, there were significant correlations between weight and blood pressure (BP; r = 0.5, p = 0.02), weight and PVAT function (r = 0.51, p = 0.02), and PVAT function and BP (r = 0.53, p = 0.01). PVAT-intact vessel segments from healthy animals constricted significantly less than segments from obese animals (p &lt; 0.05). In a healthy state, there was preservation of the PVAT vasorelaxant function after endothelium removal (p &lt; 0.05). In endothelium-denuded vessels, L-NNA attenuated the PVAT vasorelaxant function in control vessels (p &lt; 0.0001). In obesity, incubation with SOD and catalase attenuated PVAT-intact vessel contractility in the presence and absence of endothelium (p &lt; 0.001). In obese humans, SOD [Cu-Zn] (SOD1; fold change -2.4), peroxiredoxin-1 (fold change -2.15) and adiponectin (fold change -2.1) were present in lower abundances than in healthy controls. <b><i>Conclusions:</i></b> Incubation with SOD and catalase restores PVAT vasorelaxant function in animal obesity. In the rodent model, obesity-induced PVAT damage is independent of endothelium and is in part due to reduced NO bioavailability within PVAT. Loss of PVAT function correlates with rising BP in our animal obesity model. In keeping with our hypothesis of inflammation-induced damage to PVAT function in obesity, there are lower levels of SOD1, peroxiredoxin-1 and adiponectin in obese human PVAT.
DOI: 10.6084/m9.figshare.5129386.v1
title: Supplementary Material for: Second-Line Intraperitoneal Chemotherapy for Recurrent Epithelial Ovarian, Tubal and Peritoneal Cancer: A Propensity Score-Matching Study

description: <b><i>Background:</i></b> The superiority of frontline intraperitoneal (IP) over intravenous (IV) chemotherapy is well established in the treatment of epithelial ovarian cancer. However, the role of IP chemotherapy in the second-line setting has rarely been investigated. <b><i>Methods:</i></b> Consecutive patients diagnosed with recurrent epithelial, tubal and peritoneal cancers between January 2000 and December 2012 were recruited using a propensity score-matching technique to adjust relevant risk factors. <b><i>Results:</i></b> In total, 310 patients were included in the final analysis (94 for platinum-refractory/resistant disease and 216 for platinum-sensitive disease). IP chemotherapy demonstrated significantly longer median progression-free survival than IV chemotherapy (4.9 vs. 2.4 months, p &lt; 0.001, for platinum-refractory/resistant disease, and 9.8 vs. 6.9 months, p &lt; 0.001, for platinum-sensitive disease). <b><i>Conclusions:</i></b> Second-line IP chemotherapy confers longer progression-free survival than IV chemotherapy. Large-scale clinical trials should be conducted to validate the true efficacy.
DOI: 10.6084/m9.figshare.5129392.v1
title: Supplementary Material for: Male Sexual Development and the Androgenic Gland: Novel Insights through the de novo Assembled Transcriptome of the Eastern Spiny Lobster,<b><i> Sagmariasus verreauxi</i></b>

description: The Eastern spiny lobster, <i>Sagmariasus verreauxi</i>, is commercially important in fisheries, with growing aquaculture potential, driving an interest to better understand male sexual differentiation. Amongst the Decapoda<i>, </i>the androgenic gland (AG) and the insulin-like androgenic gland hormone (IAG) have a well-defined function in male sexual differentiation. However, IAG is not a sex determinant and therefore must be considered as part of a broader, integrated pathway. This work uses a transcriptomic, multi-tissue approach to provide an integrated description of male-biased expression as mediated through the AG. Transcriptomic analyses demonstrate that IAG expression is stage- and eyestalk-regulated (low in immature, high in mature and 6-times higher in hypertrophied glands), with IAG being the predominant AG-specific factor. The low expression of this key factor in immature males suggests the involvement of other tissues in male sexual differentiation. Across tissues, the gonad (87.8%) and antennal gland (73.5%) show the highest male-biased differential expression of transcripts and also express 4 sex-determination regulators, known as <i>Dmrts</i>, with broader expression of<i> Sv-Sxl </i>and <i>Sv-TRA-2.</i> In order to better understand male sexual differentiation, tissues other than the AG must also be considered. This research highlights the gonad and antennal gland as showing significant male-biased expression patterns, including the <i>Sv-Dmrts</i>.
DOI: 10.6084/m9.figshare.5129371
title: Supplementary Material for: Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

description: We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited <i>FBN1</i> mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). <i>FBN1</i> next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.