cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5128708
title: Supplementary Material for: Sun Protection Behavior in Organ Transplant Recipients in Queensland, Australia

description: <b><i>Background:</i></b> Organ transplant recipients (OTRs) have a high risk of skin cancer, and excessive sun exposure is a major contributing factor. <b><i>Objective:</i></b> To document the prevalence of sun protection and associated factors in OTRs in Queensland, Australia. <b><i>Methods:</i></b> Cross-sectional study of the frequency of wearing hats, long sleeves and using sunscreens among OTRs and factors associated with regular use. Adjusted prevalence ratios (PRs) and 95% confidence intervals (CIs) were estimated using Poisson regression models. <b><i>Results:</i></b> Among 446 OTRs, 66, 49 and 39% wore a hat, sunscreen and long sleeves, respectively, mostly when outdoors. 52% regularly practiced multiple sun protection measures while 19% did not. Sunburn-prone skin (PR = 1.43, 95% CI = 1.06-1.93) and frequent whole-body skin examinations (PR = 1.48, 95% CI = 1.19-1.84) were independently associated with regular use of multiple sun protection measures. <b><i>Conclusion:</i></b> Findings are consistent with sun-conscious OTRs also having more regular skin screening and that having frequent skin examinations promotes sun-protective habits.
DOI: 10.6084/m9.figshare.5128702
title: Supplementary Material for: Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

description: <b><i>Background/Aims:</i></b> Newborn screening for congenital adrenal hyperplasia (CAH) is generally performed using 17- hydroxyprogesterone dissociation-enhanced, lanthanide fluorescence immunoassay (DELFIA®). The primary screening results must be confirmed due to high false-positive rates; however, the need to obtain a separate specimen can hamper early recognition, differential diagnosis and treatment. We aimed to develop a single liquid chromatography-tandem mass spectrometry (LC-MS/MS) method that allows both the confirmation and differential diagnosis of CAH using the same dried blood spot (DBS) as in primary screening. <b><i>Methods:</i></b> An LC-MS/MS assay for cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone was developed, validated and applied to a total of 163 DBS samples tested positive in primary newborn screening in a cross-border cooperation. <b><i>Results:</i></b> Excellent baseline resolution and reliable determination of all analytes were achieved in DBS samples following simple sample preparation without derivatization. Of a total of 163 DBS samples tested positive in primary screening, the 21-hydroxylase-deficient form of CAH was confirmed in 1 sample. <b><i>Conclusions:</i></b> The present LC-MS/MS assay was successfully applied as a second-tier test in a cross-border cooperation for newborn screening. The assay allows concurrent confirmation and differential diagnosis of CAH and can be performed on the same DBS samples as in primary screening, enabling early diagnosis and treatment.
DOI: 10.6084/m9.figshare.5128696
title: Supplementary Material for: Different Severity and Severity Predictors in Early-Onset and Late-Onset Asthma: A Taiwanese Population-Based Study

description: <b><i>Background:</i></b> Late-onset asthma has been shown to be more severe than early-onset asthma in clinic-based studies. However, population-based studies are scarce, and the predictors of severity have been less studied. <b><i>Objectives:</i></b> To determine asthma severity and severity predictors regarding age at onset. <b><i>Methods:</i></b> A cross-sectional questionnaire survey was conducted among parents of children from 94 schools in Taiwan in 2004. Asthma severity was defined as short-acting β<sub>2</sub>-agonist (SABA), inhaled corticosteroid (ICS) and health care use in the last year. Information on age at onset, demographics, heredity and home exposure was collected. Ordered logistic or logistic regression was used for determining the associations between risk factors and severity. <b><i>Results:</i></b> Participants aged 26-50 years were included, resulting in 21,057 (67.8%) participants. Among them, 449 reported ever having had physician-diagnosed asthma, and 381 of those subjects answered the question on age at asthma onset. The risks of rescue SABA, ICS and health care use were generally higher among late-onset (13-50 years) than early-onset (0-12 years) asthmatics. Use of SABA and health care increased from childhood-onset, adolescent- or young adult-onset to adult-onset asthma. Allergic rhinitis was positively associated with SABA use (OR, 9.08; 95% CI, 1.06-77.99) and ICS use (OR, 5.08; 95% CI, 1.47-17.52) in early-onset asthma. Dehumidifier use was negatively associated with SABA use (OR, 0.50; 95% CI, 0.29-0.87) and ICS use (OR, 0.38; 95% CI, 0.19-0.78) in late-onset asthma. <b><i>Conclusions:</i></b> In adults, late-onset asthma was more severe than early-onset asthma. Severity, as indicated by SABA and ICS use, was positively associated with allergic rhinitis in early-onset asthma and negatively associated with dehumidifier use in late-onset asthma.
DOI: 10.6084/m9.figshare.5128699
title: Supplementary Material for: Wie kann man den Umgang mit prämenstruellen Symptomen verändern? Ein modularisiertes Behandlungsprogramm

description: <b><i>Hintergrund:</i></b> Die vorliegende Arbeit stellt ein modularisiertes Behandlungsprogramm für Frauen mit prämenstruellen Beschwerden vor. Zahlreiche Frauen im reproduktionsfähigen Alter leiden unter körperlichen und/oder psychischen prämenstruellen Beschwerden, die zu starken Einschränkungen im Alltag führen können. Nur in sehr wenigen Studien wurden Behandlungsansätze für prämenstruelle Beschwerden untersucht. Positive Effekte konnten dabei für kognitiv-behaviorale Therapien sowie Ansätze zur Veränderung von Lebensgewohnheiten gezeigt werden. <b><i>Methodik:</i></b> Das vorliegende Programm wurde basierend auf effektiven Ansätzen zur Behandlung prämenstrueller Beschwerden entwickelt und richtet sich an Frauen mit einem stark ausgeprägten prämenstruellen Syndrom (PMS) oder einer prämenstruellen dysphorischen Störung (PMDS) mit dem primären Ziel, die Symptome besser bewältigen zu können. Das Programm umfasst eine ausführliche Psychoedukation, kognitive Interventionen und Strategien zur Veränderung störungsaufrechterhaltender Verhaltensweisen. Zudem werden Strategien zur Veränderung von Lebensgewohnheiten bezogen auf Stress, Entspannung, Ernährung und Bewegung erarbeitet. <b><i>Ergebnisse:</i></b> Der Einsatz des Programms sowie erste Belege zur Effektivität und Zufriedenheit werden anhand einer Fallvignette verdeutlicht. <b><i>Schlussfolgerung:</i></b> Mit der vorliegenden Arbeit liegt ein strukturiertes Programm für die Behandlung von Frauen mit PMS/PMDS vor, das in der therapeutischen Praxis eingesetzt werden kann. Das Programm sollte in wissenschaftlichen Studien erprobt werden, um die Behandlung prämenstrueller Beschwerden weiter zu verbessern.
DOI: 10.6084/m9.figshare.5128702.v1
title: Supplementary Material for: Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

description: <b><i>Background/Aims:</i></b> Newborn screening for congenital adrenal hyperplasia (CAH) is generally performed using 17- hydroxyprogesterone dissociation-enhanced, lanthanide fluorescence immunoassay (DELFIA®). The primary screening results must be confirmed due to high false-positive rates; however, the need to obtain a separate specimen can hamper early recognition, differential diagnosis and treatment. We aimed to develop a single liquid chromatography-tandem mass spectrometry (LC-MS/MS) method that allows both the confirmation and differential diagnosis of CAH using the same dried blood spot (DBS) as in primary screening. <b><i>Methods:</i></b> An LC-MS/MS assay for cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone was developed, validated and applied to a total of 163 DBS samples tested positive in primary newborn screening in a cross-border cooperation. <b><i>Results:</i></b> Excellent baseline resolution and reliable determination of all analytes were achieved in DBS samples following simple sample preparation without derivatization. Of a total of 163 DBS samples tested positive in primary screening, the 21-hydroxylase-deficient form of CAH was confirmed in 1 sample. <b><i>Conclusions:</i></b> The present LC-MS/MS assay was successfully applied as a second-tier test in a cross-border cooperation for newborn screening. The assay allows concurrent confirmation and differential diagnosis of CAH and can be performed on the same DBS samples as in primary screening, enabling early diagnosis and treatment.
DOI: 10.6084/m9.figshare.5128708.v1
title: Supplementary Material for: Sun Protection Behavior in Organ Transplant Recipients in Queensland, Australia

description: <b><i>Background:</i></b> Organ transplant recipients (OTRs) have a high risk of skin cancer, and excessive sun exposure is a major contributing factor. <b><i>Objective:</i></b> To document the prevalence of sun protection and associated factors in OTRs in Queensland, Australia. <b><i>Methods:</i></b> Cross-sectional study of the frequency of wearing hats, long sleeves and using sunscreens among OTRs and factors associated with regular use. Adjusted prevalence ratios (PRs) and 95% confidence intervals (CIs) were estimated using Poisson regression models. <b><i>Results:</i></b> Among 446 OTRs, 66, 49 and 39% wore a hat, sunscreen and long sleeves, respectively, mostly when outdoors. 52% regularly practiced multiple sun protection measures while 19% did not. Sunburn-prone skin (PR = 1.43, 95% CI = 1.06-1.93) and frequent whole-body skin examinations (PR = 1.48, 95% CI = 1.19-1.84) were independently associated with regular use of multiple sun protection measures. <b><i>Conclusion:</i></b> Findings are consistent with sun-conscious OTRs also having more regular skin screening and that having frequent skin examinations promotes sun-protective habits.
DOI: 10.6084/m9.figshare.5128690
title: Supplementary Material for: Thrombin Generation by Fetoscopic Trauma to the Fetal Membranes: An in vivo and in vitro Study

description: <b><i>Objective:</i></b> We first aimed to investigate in vivo thrombin generation induced by fetoscopy, and second we used term membrane explants for measurement of thrombin generation, thrombin receptor location and induction of selected matrix metalloproteinases (MMPs) in tissue culture. <b><i>Materials and Methods:</i></b> In vivo study (37 cases): samples of amniotic fluid were taken at the beginning and end of fetoscopy (mean gestational age 26.7 weeks) and analyzed by ELISA for thrombin-antithrombin complexes. In vitro study: fetal membranes were put in culture and punctured for measurement of thrombin generation by calibrated automated thrombography and ELISA. Induction of MMP-9 and MMP-2 was analyzed by zymography. PAR-1 was localized by immunohistochemistry. <b><i>Results:</i></b> No significant increase in thrombin-antithrombin was measured in amniotic fluid obtained during fetoscopy. In vitro, thrombin generation induced by needle trauma of membrane cultures is correlated to the amount of plasma. Activity of MMP-9 but not MMP-2 was elevated in cultured membranes but could not be inhibited by a thrombin inhibitor. On histology, the thrombin receptor PAR-1 was located in the chorion and decidua, but not in the amnion. <b><i>Discussion:</i></b> Despite the influence of thrombin on punctured fetal membranes in vitro, the role of thrombin in iatrogenic preterm premature rupture of membranes is questionable.
DOI: 10.6084/m9.figshare.5128693
title: Supplementary Material for: Use of in vivo Expression Technology for the Identification of Putative Host Adaptation Factors of the Lyme Disease Spirochete

description: The causative agent of Lyme disease, <i>Borrelia burgdorferi,</i> is an obligate parasite that requires either a tick vector or a mammalian host for survival. Identification of the bacterial genes that are specifically expressed during infection of the mammalian host could provide targets for novel therapeutics and vaccines. In vivo expression technology (IVET) is a reporter-based promoter trap system that utilizes selectable markers to identify promoters of bacterial host-specific genes. Using previously characterized genes for in vivo and in vitro selection, this study utilized an IVET system that allows for selection of <i>B. burgdorferi</i> sequences that act as active promoters only during murine infection. This promoter trap system was able to successfully distinguish active promoter sequences both in vivo and in vitro from control sequences and a library of cloned <i>B. burgdorferi</i> genomic fragments. However, a bottleneck effect during the experimental mouse infection limited the utility for genome-wide promoter screening. Overall, IVET was demonstrated as a tool for the identification of in vivo-induced promoter elements of <i>B. burgdorferi,</i> and the observed infection bottleneck apparent using a polyclonal infection pool provides insight into the dynamics of experimental infection with <i>B. burgdorferi.</i>
DOI: 10.6084/m9.figshare.5128687
title: Supplementary Material for: A 24-Week, Randomized, Controlled Study to Evaluate the Tolerability, Safety and Efficacy of 2 Different Titration Schemes of the Rivastigmine Patch in Japanese Patients with Mild to Moderate Alzheimer's Disease

description: <b><i>Aim:</i></b> To investigate whether 1-step titration of the rivastigmine patch (initiated at 5 cm<sup>2</sup> and titrated to 10 cm<sup>2</sup> after 4 weeks) is well tolerated in Japanese patients with Alzheimer's disease (AD) as compared to 3-step titration (initiated at 2.5 cm<sup>2</sup> and titrated by 2.5 cm<sup>2</sup> every 4 weeks to 10 cm<sup>2</sup>). <b><i>Methods:</i></b> A 24-week, multicenter, randomized, double-blind study was conducted in Japan between July 2012 and May 2014. Patients with mild to moderate AD aged 50-85 years were randomized 1:1 to 1-step or 3-step titration of the rivastigmine once-daily patch. The primary endpoint was the proportion of patients with adverse events leading to discontinuation. <b><i>Results:</i></b> Of 216 patients randomized, 215 (1-step, n = 107; 3-step, n = 108) were included in the safety analysis. The primary endpoint outcome was 15.0% in the 1-step group and 18.5% in the 3-step group. The observed treatment difference was −3.6% (95% confidence interval: −17.0, 9.6), falling within the prespecified acceptance range. <b><i>Conclusion:</i></b> The tolerability of two different titration schemes was similar in Japanese patients with AD.
DOI: 10.6084/m9.figshare.5128690.v1
title: Supplementary Material for: Thrombin Generation by Fetoscopic Trauma to the Fetal Membranes: An in vivo and in vitro Study

description: <b><i>Objective:</i></b> We first aimed to investigate in vivo thrombin generation induced by fetoscopy, and second we used term membrane explants for measurement of thrombin generation, thrombin receptor location and induction of selected matrix metalloproteinases (MMPs) in tissue culture. <b><i>Materials and Methods:</i></b> In vivo study (37 cases): samples of amniotic fluid were taken at the beginning and end of fetoscopy (mean gestational age 26.7 weeks) and analyzed by ELISA for thrombin-antithrombin complexes. In vitro study: fetal membranes were put in culture and punctured for measurement of thrombin generation by calibrated automated thrombography and ELISA. Induction of MMP-9 and MMP-2 was analyzed by zymography. PAR-1 was localized by immunohistochemistry. <b><i>Results:</i></b> No significant increase in thrombin-antithrombin was measured in amniotic fluid obtained during fetoscopy. In vitro, thrombin generation induced by needle trauma of membrane cultures is correlated to the amount of plasma. Activity of MMP-9 but not MMP-2 was elevated in cultured membranes but could not be inhibited by a thrombin inhibitor. On histology, the thrombin receptor PAR-1 was located in the chorion and decidua, but not in the amnion. <b><i>Discussion:</i></b> Despite the influence of thrombin on punctured fetal membranes in vitro, the role of thrombin in iatrogenic preterm premature rupture of membranes is questionable.
DOI: 10.6084/m9.figshare.5128681
title: Supplementary Material for: Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study

description: <b><i>Objective:</i></b> We explore the stability of parental attitudes to the ethical issues raised by the return of genomic research results. <b><i>Methods:</i></b> A 19-item questionnaire was mailed to participants in a large genome research consortium 18 months following a baseline survey. We describe the stability of parental attitudes to (a) sharing of genomic research results, (b) endorsement of children in genomic research, (c) responsibilities of researchers, and (d) responsibilities to extended family. We also explore their experience in receiving results. <b><i>Results:</i></b> Of 170 original participants, 154 (91%) responded. Most participants expressed positive rights to receive incidental genomic research findings (85%), including when ameliorative therapy was unknown (85%). Only 3% found it acceptable to delegate the decision to return results to an independent committee. Researchers, either with a parent (42%) or physician (17%), were felt to be responsible to convey research results to children when they reach adulthood. Most participants (74%) indicated that results should be shared with potentially affected extended family. These results are very similar to those of the baseline survey. All participants who received genomic results would do so again and reported actions similar to their expressed attitudes. <b><i>Conclusions:</i></b> The opinions of parents regarding genomic research remain stable over time. Guidelines on the return of results should incorporate these findings.
DOI: 10.6084/m9.figshare.5128684
title: Supplementary Material for: Exploring the Potential Emotional and Behavioural Impact of Providing Personalised Genomic Risk Information to the Public: A Focus Group Study

description: <b><i>Aim:</i></b> To explore the potential emotional and behavioural impact of providing information on personalised genomic risk to the public, using melanoma as an example, to aid research translation. <b><i>Methods:</i></b> We conducted four focus groups in which 34 participants were presented with a hypothetical scenario of an individual's lifetime genomic risk of melanoma (using the term ‘genetic risk'). We asked about understanding of genetic risk, who would choose to receive this risk information, potential emotional and behavioural impacts, and other concerns or potential benefits. Data were analysed thematically. <b><i>Results:</i></b> Participants thought this risk information could potentially motivate preventive behaviours such as sun protection and related it to screening for other diseases including breast cancer. Factors identified as influencing the decision to receive genetic risk information included education level, children, age and gender. Participants identified potential negative impacts on the recipient such as anxiety and worry, and proposed that this could be mitigated by providing additional explanatory and prevention information, and contact details of a health professional for further discussion. Participants' concerns included workplace and insurance discrimination. <b><i>Conclusion:</i></b> Participants recognised the potential for both positive and negative emotional and behavioural impacts related to receiving information on the personalised genomic risk of melanoma.
DOI: 10.6084/m9.figshare.5128699.v1
title: Supplementary Material for: Wie kann man den Umgang mit prämenstruellen Symptomen verändern? Ein modularisiertes Behandlungsprogramm

description: <b><i>Hintergrund:</i></b> Die vorliegende Arbeit stellt ein modularisiertes Behandlungsprogramm für Frauen mit prämenstruellen Beschwerden vor. Zahlreiche Frauen im reproduktionsfähigen Alter leiden unter körperlichen und/oder psychischen prämenstruellen Beschwerden, die zu starken Einschränkungen im Alltag führen können. Nur in sehr wenigen Studien wurden Behandlungsansätze für prämenstruelle Beschwerden untersucht. Positive Effekte konnten dabei für kognitiv-behaviorale Therapien sowie Ansätze zur Veränderung von Lebensgewohnheiten gezeigt werden. <b><i>Methodik:</i></b> Das vorliegende Programm wurde basierend auf effektiven Ansätzen zur Behandlung prämenstrueller Beschwerden entwickelt und richtet sich an Frauen mit einem stark ausgeprägten prämenstruellen Syndrom (PMS) oder einer prämenstruellen dysphorischen Störung (PMDS) mit dem primären Ziel, die Symptome besser bewältigen zu können. Das Programm umfasst eine ausführliche Psychoedukation, kognitive Interventionen und Strategien zur Veränderung störungsaufrechterhaltender Verhaltensweisen. Zudem werden Strategien zur Veränderung von Lebensgewohnheiten bezogen auf Stress, Entspannung, Ernährung und Bewegung erarbeitet. <b><i>Ergebnisse:</i></b> Der Einsatz des Programms sowie erste Belege zur Effektivität und Zufriedenheit werden anhand einer Fallvignette verdeutlicht. <b><i>Schlussfolgerung:</i></b> Mit der vorliegenden Arbeit liegt ein strukturiertes Programm für die Behandlung von Frauen mit PMS/PMDS vor, das in der therapeutischen Praxis eingesetzt werden kann. Das Programm sollte in wissenschaftlichen Studien erprobt werden, um die Behandlung prämenstrueller Beschwerden weiter zu verbessern.
DOI: 10.6084/m9.figshare.5128678
title: Supplementary Material for: Two Novel <b><i>HOGA1</i></b> Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3

description: <b><i>Background:</i></b> Twenty-six <i>HOGA1</i> mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G&gt;T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. <b><i>Methods:</i></b> A Chinese child with early-onset nephrolithiasis was suspected of having PH. We searched for <i>AGXT</i>, <i>GRHPR</i> and <i>HOGA1</i> gene mutations in this patient and his parents. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. <b><i>Results:</i></b> Two heterozygous mutations not previously described in the literature about <i>HOGA1</i> were identified (compound heterozygous). One mutation was a successive 2 bp substitution at the last nucleotide of exon 6 and at the first nucleotide of intron 6, respectively (c.834_834 + 1GG&gt;TT), while the other one was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G&gt;A). Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects and the functional role on splicing of both variants found in this study was confirmed by a minigene assay based on the pSPL3 exon trapping vector. In addition, we found a SNP in this family (c.715G&gt;A, p.V239I). There were no mutations detected in <i>AGXT</i> and <i>GRHPR</i>. <b><i>Conclusion:</i></b> Two novel <i>HOGA1</i> mutations were identified in association with PH3. This is the first description and investigation on mutant gene analysis of PH3 in an Asian.