cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5127715.v1
title: Supplementary Material for: SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

description: Submicroscopic duplications involving <i>SOX3</i> and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether <i>SOX3</i> overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving <i>SOX3</i> and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that <i>SOX3 </i>overdosage permits normal sex development in 46,XX individuals with random X inactivation.
DOI: 10.6084/m9.figshare.5127712.v1
title: Supplementary Material for: Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a Region in a Male with Mild Asthenozoospermia

description: Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. In this study, we identified a hitherto unreported microduplication in the AZFa region in a Japanese male individual. The 629,812-bp duplication contained 22 of 46 exons of <i>USP9Y</i>, encoding the putative fine tuner of spermatogenesis, together with all exons of 3 other genes/pseudogenes. The breakpoints of the duplication resided in the DNA/TcMar-Tigger repeat and nonrepeat sequences, respectively, and were associated with a 2-bp microhomology, but not with short nucleotide stretches. The breakpoint-flanking regions were not enriched with GC content, palindromes, or noncanonical DNA structures. Semen analysis of the individual revealed a normal sperm concentration and mildly reduced sperm motility. The paternal DNA sample of the individual was not available for genetic analysis. The results indicate that CNVs in AZF regions can be generated by microhomology-mediated break-induced replication in the absence of known rearrangement-inducing DNA features. AZFa-linked microduplications likely permit production of a normal amount of sperm, although the precise clinical consequences of these CNVs await further investigation.
DOI: 10.6084/m9.figshare.5127700
title: Supplementary Material for: The WHO-5 Well-Being Index: A Systematic Review of the Literature

description: <b><i>Background:</i></b> The 5-item World Health Organization Well-Being Index (WHO-5) is among the most widely used questionnaires assessing subjective psychological well-being. Since its first publication in 1998, the WHO-5 has been translated into more than 30 languages and has been used in research studies all over the world. We now provide a systematic review of the literature on the WHO-5. <b><i>Methods:</i></b> We conducted a systematic search for literature on the WHO-5 in PubMed and PsycINFO in accordance with the PRISMA guidelines. In our review of the identified articles, we focused particularly on the following aspects: (1) the clinimetric validity of the WHO-5; (2) the responsiveness/sensitivity of the WHO-5 in controlled clinical trials; (3) the potential of the WHO-5 as a screening tool for depression, and (4) the applicability of the WHO-5 across study fields. <b><i>Results:</i></b> A total of 213 articles met the predefined criteria for inclusion in the review. The review demonstrated that the WHO-5 has high clinimetric validity, can be used as an outcome measure balancing the wanted and unwanted effects of treatments, is a sensitive and specific screening tool for depression and its applicability across study fields is very high. <b><i>Conclusions:</i></b> The WHO-5 is a short questionnaire consisting of 5 simple and non-invasive questions, which tap into the subjective well-being of the respondents. The scale has adequate validity both as a screening tool for depression and as an outcome measure in clinical trials and has been applied successfully across a wide range of study fields.
DOI: 10.6084/m9.figshare.5127703
title: Supplementary Material for: Hyperthermia Is Now Included in the NCCN Clinical Practice Guidelines for Breast Cancer Recurrences: An Analysis of Existing Data

description: <b><i>Background:</i></b> Hyperthermia has been included in the 2013 National Comprehensive Cancer Network (NCCN) guidelines as an option for the treatment of breast recurrences. The purpose of this article is to demonstrate the important role of hyperthermia as a therapeutic modality by presenting clinical trials on this subject carried out in the last decades. <b><i>Materials and Methods:</i></b> All relevant trials published since 1987 were retrieved from Medline and reviewed. <b><i>Results:</i></b> Results show that the addition of hyperthermia to radiotherapy and/or chemotherapy for the treatment of breast cancer enhances treatment response and can increase local control. <b><i>Conclusion:</i></b> Further studies are required to evaluate potential benefits of hyperthermia in the treatment of other kinds of superficial tumors.
DOI: 10.6084/m9.figshare.5127709.v1
title: Supplementary Material for: Fasting Plasma Glucose Levels Predict Steroid-Induced Abnormal Glucose Metabolism in Patients with Non-Diabetic Chronic Kidney Disease: A Prospective Cohort Study

description: <b><i>Background/Aims:</i></b> Glucocorticoids-induced abnormal glucose metabolism (AGM) is a common medical problem in patients with non-diabetic chronic kidney disease (CKD). However, little information is available regarding the prediction of steroid-induced AGM in this patient population. <b><i>Methods:</i></b> In this prospective cohort study, we consecutively enrolled 303 non-diabetic CKD patients with fasting plasma glucose (FPG) levels &lt;5.6 mmol/l and normal oral glucose tolerance test (OGTT). OGTT was performed every 3 months during glucocorticoid treatment to identify new-onset AGM, and patients were followed for 12 months post steroid withdrawal. <b><i>Results:</i></b> During 593 person-years, there were 107 incident cases of steroid-induced AGM (18/100 person-year), including 55 (51.4%) diabetes and 52 (48.6%) pre-diabetes. In a multivariate model, each millimole increase per liter in FPG enhanced the risk of AGM by 4.6-fold (hazard ratio 4.58, 95% confidence interval, 2.67-7.83). After adjusting other risk factors, a progressively increased risk of AGM or DM was observed in patients with FPG levels ≥4.8 mmol/l, as compared with those whose levels were ≤4.3 mmol/l (p for trend &lt;0.001). Furthermore, a greater increase in FPG level (≥0.3 mmol/l) during the first 3 months of glucocorticoid treatment was associated with an increased risk for future diabetes. For predicting steroid-induced diabetes, the area under the receiver-operating characteristic curve was 0.90 for the combination of FPG and changes in FPG levels at month 3. <b><i>Conclusion:</i></b> Higher-normal FPG and a greater increase in FPG levels during glucocorticoid treatment may help to identify non-diabetic CKD patients at increased risk of steroid-induced AGM or diabetes.
DOI: 10.6084/m9.figshare.5127697
title: Supplementary Material for: The Empirical Status of Psychodynamic Psychotherapy - An Update: Bambi's Alive and Kicking

description: <b><i>Background:</i></b> The Task Force on Promotion and Dissemination of Psychological Procedures proposed rigorous criteria to define empirically supported psychotherapies. According to these criteria, 2 randomized controlled trials (RCTs) showing efficacy are required for a treatment to be designated as ‘efficacious' and 1 RCT for a designation as ‘possibly efficacious'. Applying these criteria modified by Chambless and Hollon, this article presents an update on the evidence for psychodynamic therapy (PDT) in specific mental disorders. <b><i>Methods:</i></b> A systematic search was performed using the criteria by Chambless and Hollon for study selection, as follows: (1) RCT of PDT in adults, (2) use of reliable and valid measures for diagnosis and outcome, (3) use of treatment manuals or manual-like guidelines, (4) adult population treated for specific problems and (5) PDT superior to no treatment, placebo or alternative treatment or equivalent to an established treatment. <b><i>Results:</i></b> A total of 39 RCTs were included. Following Chambless and Hollon, PDT can presently be designated as efficacious in major depressive disorder (MDD), social anxiety disorder, borderline and heterogeneous personality disorders, somatoform pain disorder, and anorexia nervosa. For MDD, this also applies to the combination with pharmacotherapy. PDT can be considered as possibly efficacious in dysthymia, complicated grief, panic disorder, generalized anxiety disorder, and substance abuse/dependence. Evidence is lacking for obsessive-compulsive, posttraumatic stress, bipolar and schizophrenia spectrum disorder(s). <b><i>Conclusions:</i></b> Evidence has emerged that PDT is efficacious or possibly efficacious in a wide range of common mental disorders. Further research is required for those disorders for which sufficient evidence does not yet exist.
DOI: 10.6084/m9.figshare.5127703.v1
title: Supplementary Material for: Hyperthermia Is Now Included in the NCCN Clinical Practice Guidelines for Breast Cancer Recurrences: An Analysis of Existing Data

description: <b><i>Background:</i></b> Hyperthermia has been included in the 2013 National Comprehensive Cancer Network (NCCN) guidelines as an option for the treatment of breast recurrences. The purpose of this article is to demonstrate the important role of hyperthermia as a therapeutic modality by presenting clinical trials on this subject carried out in the last decades. <b><i>Materials and Methods:</i></b> All relevant trials published since 1987 were retrieved from Medline and reviewed. <b><i>Results:</i></b> Results show that the addition of hyperthermia to radiotherapy and/or chemotherapy for the treatment of breast cancer enhances treatment response and can increase local control. <b><i>Conclusion:</i></b> Further studies are required to evaluate potential benefits of hyperthermia in the treatment of other kinds of superficial tumors.
DOI: 10.6084/m9.figshare.5127706.v1
title: Supplementary Material for: Altered Neural Activity in the Anterior and Posterior Insula in Individuals with Problematic Internet Use

description: <b><i>Background:</i></b> Individuals with problematic Internet use (PIU) are known to experience increased craving for immediate monetary reward despite long-term negative consequences. What remains unclear is whether their sensitivity to monetary loss is altered. We investigated neural alterations in brain regions involved in the anticipation of a monetary reward and loss avoidance in order to advance our understanding of the characteristics of PIU. <b><i>Methods:</i></b> A total of 11 adults with PIU and 22 age-matched controls participated in this functional magnetic resonance imaging study. Inside the scanner, participants performed a monetary incentive learning task during which they chose one of two fractal stimuli associated with monetary gain (reward trials) or avoidance of monetary loss (avoidance trials). <b><i>Results:</i></b> We found that, relative to controls, activity in the posterior insula during reward anticipation was greater in participants with PIU, whereas its activity during avoidance anticipation was reduced. No group differences in activation were found during reception phases. <b><i>Conclusions:</i></b> Given the roles of the posterior insula in the cortical representation of somatosensory arousal, our results suggest that individuals with PIU may experience more elaborate somatosensory arousal during the anticipation of monetary reward and yet experience less elaborate somatosensory arousal during the anticipation of loss avoidance compared with typical controls.
DOI: 10.6084/m9.figshare.5127688
title: Supplementary Material for: Exome Sequencing Identification of <b><i>EP300</i></b> Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

description: Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in <i>EP300</i>. Previously, the <i>EP300</i> mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo <i>EP300</i> frameshift mutation in a proband with coloboma, facial asymmetry and imperforate anus with minimal RSTS features. Previous molecular studies have demonstrated the importance of EP300 in oculogenesis, supporting the possibility that <i>EP300</i> mutation may cause ocular coloboma. Since a wide phenotypic spectrum is well known in <i>EP300</i>-associated RSTS cases, the atypical phenotype identified in our proband may be an example of rare manifestations of RSTS.
DOI: 10.6084/m9.figshare.5127691
title: Supplementary Material for: Elastin Organization in Pig and Cardiovascular Disease Patients' Pericardial Resistance Arteries

description: Peripheral vascular resistance is increased in essential hypertension. This involves structural changes of resistance arteries and stiffening of the arterial wall, including remodeling of the extracellular matrix. We hypothesized that biopsies of the human parietal pericardium, obtained during coronary artery bypass grafting or cardiac valve replacement surgeries, can serve as a source of resistance arteries for structural research in cardiovascular disease patients. We applied two-photon excitation fluorescence microscopy to study the parietal pericardium and isolated pericardial resistance arteries with a focus on the collagen and elastin components of the extracellular matrix. Initial findings in pig tissue were confirmed in patient biopsies. The microarchitecture of the internal elastic lamina in both the pig and patient pericardial resistance arteries (studied at a transmural pressure of 100 mm Hg) is fiber like, and no prominent external elastic lamina could be observed. This microarchitecture is very different from that in rat mesenteric arteries frequently used for resistance artery research. In conclusion, we add three-dimensional information on the structure of the extracellular matrix in resistance arteries from cardiovascular disease patients and propose further use of patient pericardial resistance arteries for studies of the human microvasculature.
DOI: 10.6084/m9.figshare.5127694
title: Supplementary Material for: Prematurity, Opioid Exposure and Neonatal Pain: Do They Affect the Developing Brain?

description: <b><i>Background:</i></b> Traditionally, 10 years ago, children born preterm often routinely received morphine, especially during mechanical ventilation. Studies in neonatal rats, whose stage of brain development roughly corresponds to that of children born preterm, found negative long-term effects after pain and opioid exposure. <b><i>Objectives:</i></b> We studied possible effects of prematurity, procedural pain and opioids in humans 10 years later. We hypothesized that these factors would negatively influence neurobiological, neuropsychological and sensory development later in life. <b><i>Methods:</i></b> We included 19 children born preterm who as neonates participated in an RCT on the short-term effects of morphine administration and who previously participated in our follow-up studies at ages 5 and 8/9 years. We assessed associations between brain morphology (n = 11), neuropsychological functioning (n = 19) and thermal sensitivity (n = 17) and prematurity, opioid exposure and neonatal pain. <b><i>Results:</i></b> Significant correlations (coefficients 0.60-0.85) of gestational age, number of painful procedures and morphine exposure with brain volumes were observed. Significant correlations between these factors and thermal sensitivity were not established. Neuropsychological outcome was significantly moderately correlated with morphine exposure in only two subtests, and children performed in general ‘average' by Dutch norms. <b><i>Conclusions:</i></b> Although prematurity, opioid exposure and neonatal pain were significantly associated with brain volume, no major associations with neuropsychological functioning or thermal sensitivity were detected. Our findings suggest that morphine administration during neonatal life does not affect neurocognitive performance or thermal sensitivity during childhood in children born preterm without brain damage during early life. Future studies with larger sample sizes are needed to confirm these findings.
DOI: 10.6084/m9.figshare.5127691.v1
title: Supplementary Material for: Elastin Organization in Pig and Cardiovascular Disease Patients' Pericardial Resistance Arteries

description: Peripheral vascular resistance is increased in essential hypertension. This involves structural changes of resistance arteries and stiffening of the arterial wall, including remodeling of the extracellular matrix. We hypothesized that biopsies of the human parietal pericardium, obtained during coronary artery bypass grafting or cardiac valve replacement surgeries, can serve as a source of resistance arteries for structural research in cardiovascular disease patients. We applied two-photon excitation fluorescence microscopy to study the parietal pericardium and isolated pericardial resistance arteries with a focus on the collagen and elastin components of the extracellular matrix. Initial findings in pig tissue were confirmed in patient biopsies. The microarchitecture of the internal elastic lamina in both the pig and patient pericardial resistance arteries (studied at a transmural pressure of 100 mm Hg) is fiber like, and no prominent external elastic lamina could be observed. This microarchitecture is very different from that in rat mesenteric arteries frequently used for resistance artery research. In conclusion, we add three-dimensional information on the structure of the extracellular matrix in resistance arteries from cardiovascular disease patients and propose further use of patient pericardial resistance arteries for studies of the human microvasculature.
DOI: 10.6084/m9.figshare.5127682
title: Supplementary Material for: Spectrocolourimetry Visualized Differences in Sexual Skin Colouration in Macaques

description: The females of some catarrhines develop conspicuous sexual skin transformations in their hind limbs. Among macaques (one of the radiated and adapted catarrhine groups with diversified sexual skin transformations), differences in sexual skin colouration between the Japanese macaque <i>Macaca fuscata</i> and the rhesus macaque <i>M. mulatta</i> have not been quantitatively analysed. In this study, the sexual skin colouration of these macaques was spectrocolourimetrically measured in the non-mating season (NMS) and the mating season (MS) and represented in a CIELAB space with the variables <i>L</i><i>*</i><i>, a</i><i>*</i> and <i>b</i><i>*</i><i>.</i> The variables <i>L</i><i>*</i><i>, a</i><i>*</i> and <i>b</i><i>*</i> represent positions on the light-dark, red/magenta-green, and yellow-blue axes, respectively. In the Japanese macaques the average ± SD of <i>L</i><i>*</i><i>, a</i><i>*</i> and <i>b</i><i>*</i> was 53.61 ± 3.31, 11.51 ± 4.57 and 6.66 ± 2.25 in the NMS and 46.60 ± 2.78, 19.97 ± 2.99 and 8.80 ± 1.34 in the MS, respectively, while in the rhesus macaques the average ± SD of <i>L</i><i>*</i><i>, a</i><i>*</i> and <i>b</i><i>*</i> was 60.09 ± 3.96, 5.99 ± 4.59 and 5.83 ± 2.37 in the NMS and 52.70 ± 6.54, 13.62 ± 6.86 and 8.07 ± 1.43 in the MS, respectively. The sexual skin of the Japanese macaques was consistently much redder (larger <i>a</i><i>*</i>) and darker (smaller <i>L</i><i>*</i>) than that of the rhesus macaques. The smaller <i>L</i><i>*</i> suggested a greater dermal melanin content in the Japanese macaques. These closely related macaque species have similar but distinct sexual skin colourations. Spectrocolourimetry is thus useful to suggest the histophysiological background of the colouration.
DOI: 10.6084/m9.figshare.5127685
title: Supplementary Material for: The Cost Effectiveness of Erythropoietin-Stimulating Agents for Treating Anemia in Patients on Dialysis: A Systematic Review

description: <b><i>Background:</i></b> Anemia is a common complication associated with kidney failure and is marked by poor health and increased risk of morbidity and mortality. There are ongoing concerns with the use of Erythropoietin Stimulating Agents (ESAs) to treat anemia in patients with kidney failure on dialysis. Questions as to their benefits, harms and overall effect on quality of life are still relevant today. Our objective was to systematically review studies evaluating the cost-effectiveness of ESAs in patients with kidney failure on dialysis. <b><i>Methods:</i></b> We performed a systematic review of studies determining the cost-effectiveness of ESAs in adult patients on dialysis. Databases, including PubMed, EMBASE, and Cochrane Database of Systematic Reviews, were searched from their establishment until June 2013. Studies that reported an incremental cost-effectiveness ratio of hemoglobin correction strategies based on ESA treatments in comparison to red blood cell transfusions, lower hemoglobin targets, or no ESA treatment were included. <b><i>Results:</i></b> Seven studies met inclusion criteria. Reported cost/quality-adjusted life-year (QALY) ratios ranged from USD 931-677,749/QALY across five studies comparing ESAs to red blood cell transfusions. There was heterogeneity in results when considering higher hemoglobin targets, with studies finding higher targets to be both dominant and dominated. Mortality, hospitalization, and utility estimates were major drivers. <b><i>Conclusions:</i></b> There is substantial variability in the estimates of the cost-effectiveness of using ESAs in the dialysis population. New models incorporating recent meta-analyses for estimates of utility, mortality, and hospitalization changes would allow for a more comprehensive answer to this question.