cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5125879.v1
title: Supplementary Material for: Association between a Lumican Promoter Polymorphism and High Myopia in the Chinese Population: A Meta-Analysis of Case-Control Studies

description: <b><i>Purpose:</i></b> To evaluate the relationship between lumican polymorphisms and high myopia in Chinese populations. <b><i>Methods:</i></b> An electronic search was conducted in Pubmed, Embase, Cochrane Library and the China Biological Medicine Database for articles published prior to September 30, 2012. A meta-analysis was performed to assess heterogeneity, combine results and determine publication bias. <b><i>Results:</i></b> This meta-analysis, including 1,545 subjects from 5 studies, indicated that Chinese lumican rs3759223 C allele carriers had a decreased risk of high myopia in comparison to T allele carriers (odds ratio: 0.531; 95% confidence interval, CI: 0.304-0.925; p = 0.025). There was some heterogeneity between studies. A metaregression showed that the mean axial length of controls weakens the effect of rs3759223 on high myopia (slope: -0.914; 95% CI: -1.490 to 0.337; p = 0.002). Sensitivity analysis confirmed the reliability and stability of this meta-analysis. <b><i>Conclusion:</i></b> Chinese lumican rs3759223 C allele carriers may be at reduced risk of high myopia.
DOI: 10.6084/m9.figshare.5125882.v1
title: Supplementary Material for: Combination of the Clock Drawing Test with the Physical Phenotype of Frailty for the Prediction of Mortality and Other Adverse Outcomes in Older Community Dwellers without Dementia

description: <b><i>Background:</i></b> Cognitive assessment is thought to increase the ability of the physical phenotype of frailty to identify older persons at a higher risk for adverse outcomes. <b><i>Objective:</i></b> Data from a cohort of dementia-free community dwellers were used to investigate whether the clock drawing test (CDT), a quick and easy cognitive screening test, is associated with adverse health outcomes independently of the physical phenotype of frailty. <b><i>Methods:</i></b> This<b> </b>was a prospective population-based cohort study of 766 dementia-free Italian community dwellers aged 65 years or older. Baseline assessment included the physical phenotype of frailty, 3 different CDT protocols [Sunderland, Shulman, and the clock drawing interpretation scale (CDIS)], and several health confounders. Hazard ratios (HR) and odds ratio (OR) along with their corresponding 95% confidence intervals (CI) from models adjusted for frailty and sociodemographic and health confounders were used to estimate the independent association of the CDT with the 7-year risk of all-cause mortality and the 3-year risk of new and worsening disability, hospitalization, and fractures. <b><i>Results:</i></b> After adjustment for confounders, the Sunderland CDT was significantly associated with all-cause mortality independently of the physical phenotype of frailty (HR = 1.44, 95% CI 1.03-2.01, p = 0.031). However, compared to all nonfrail participants with a normal Sunderland CDT, the HR was 1.57 (95% CI 1.09-2.26, p = 0.016) for those with impairment on the Sunderland CDT only, 2.48 (95% CI 1.46-4.20, p = 0.001) for those with frailty only, and 2.52 (95% CI 1.34-4.77, p = 0.004) for those with both frailty and impairment on the Sunderland CDT. Mortality was unrelated to the CDIS CDT (p = 0.359) and the Shulman CDT (p = 0.281). No statistically significant relationship was found between nonlethal outcomes and any CDT protocol, although trends were found for an association of both the Sunderland CDT (p = 0.118) and the CDIS CDT with worsening disability (p = 0.154). <b><i>Conclusions:</i></b> In older persons, depending on the scoring system, the CDT may predict the mortality risk independently of the physical phenotype of frailty. However, combining the two measurements does not improve their individual prognostic abilities.
DOI: 10.6084/m9.figshare.5125867
title: Supplementary Material for: Reassessing Hepatocellular Carcinoma Staging in a Changing Patient Population

description: <b><i>Objective:</i></b> Hepatocellular carcinoma (HCC) staging systems were developed using data predominantly from patients who had hepatitis and cirrhosis. Given the recent change in prevalence of viral hepatitis and cirrhosis at oncology centers, which has altered the natural history of HCC, we aimed at comparing the accuracy of HCC staging systems in patients with or without hepatitis and cirrhosis. <b><i>Methods:</i></b> A total of 438 patients were enrolled. Baseline clinicopathologic parameters, Barcelona Clinic Liver Cancer stage, Cancer of the Liver Italian Program score, TNM (6th edition) stage, Okuda stage, and Chinese University Prognostic Index score were prospectively obtained for all patients, and retrospectively analyzed. Kaplan-Meier analysis was used to determine overall survival (OS), Cox regression analyses were performed, and Harrell's Correspondence Index compared the staging systems' ability to predict OS duration. Subgroup analyses of patients with or without hepatitis or cirrhosis were performed. <b><i>Results:</i></b> Median patient OS was 13.9 months; 165 patients (37.7%) had no cirrhosis and 256 patients (58.4%) had no hepatitis. Overall, all staging systems were significantly less predictive of OS in patients who did not have cirrhosis or hepatitis. <b><i>Conclusion:</i></b> Our results advocate the need to further stratify HCC based on cirrhosis and hepatitis status, which may change patient risk-stratification and, ultimately, treatment decisions.
DOI: 10.6084/m9.figshare.5125870
title: Supplementary Material for: <b><i>MYH9</i></b>-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations

description: We describe a large four-generational Chinese pedigree segregating <i>MYH9</i>-related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed.
DOI: 10.6084/m9.figshare.5125873
title: Supplementary Material for: Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

description: Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a heterogeneous overgrowth syndrome characterized by visceromegaly, macroglossia, tumor predisposition, and other congenital abnormalities. BWS is usually associated with abnormalities of chromosome 11p15, including (epi)genetic changes, paternal disomy and point mutations. A number of identical twin pairs, mostly female, have been reported to be clinically discordant for BWS. Studies of monozygotic twins discordant for BWS provide more information about failure in the DNA methylation maintenance machinery during very early embryonic development. Here, we report a case of monozygotic male twins discordant for BWS phenotype. Methylation analysis of the 2 imprinted domains at 11p15.5 (H19DMR and KvDMR) was performed by methylation-specific MLPA and pyrosequencing of DNA extracted from peripheral blood and buccal swabs of both twins. Hypomethylation at KvDMR was identified in both cell types of the affected twin, whereas his healthy brother presented hypomethylation only in blood cells and a normal methylation profile in buccal swab. For diagnostic purposes, it is important to remember that twins can share fetal circulation and possibly share hematopoietic stem cells early in development; therefore, the affected and unaffected twins can share an epigenotype that will resemble partial hypomethylation. If a patient is a twin, it is valuable to obtain a sample from a tissue other than blood.
DOI: 10.6084/m9.figshare.5125861
title: Supplementary Material for: DSM-IV und DSM-5: Was hat sich tatsächlich verändert?

description: Im Mai 2013 ist die fünfte Auflage des Diagnostischen und Statistischen Manuals Psychischer Störungen (DSM-5) der American Psychiatric Association erschienen. Um die Vor- und Nachteile des DSM-5 beurteilen und gegebenenfalls in Forschung und Praxis angemessen berücksichtigen zu können, sollten Wissenschaftler und Praktiker gleichermaßen über die Änderungen gegenüber dem DSM-IV informiert sein. In diesem Beitrag werden die wesentlichen Unterschiede zwischen dem DSM-IV und DSM-5 beschrieben. Zentrale Unterschiede in dem Gesamtsystem ergeben sich durch die Aufgabe des multiaxialen Systems und die Neuanordnung der Störungen. Wesentliche Veränderungen auf Störungsebene enthalten die Einführung Schwerer und Leichter Neurokognitiver Störungen, die Aufhebung von Trauerreaktionen als Ausschlusskriterium für Major Depression und die Aufnahme von Agoraphobie als eigenständige Diagnose. Als neue Störungskategorien wurden beispielsweise die «Binge-Eating»-Störung, die Prämenstruelle Dysphorische Störung, die Disruptive Stimmungsdysregulationsstörung, Zwanghaftes Horten, Dermatillomanie und Koffeinentzug eingeführt. Ausgeschlossen wurden unter anderem die Störung mit Sexueller Aversion und die Undifferenzierte Somatoforme Störung. Letztlich wurden bei fast allen Störungen die Informationen zur Störungsbeschreibung aktualisiert und/oder die diagnostischen Kriterien geringfügig modifiziert. Bei der Bewertung der vorgenommenen Veränderungen muss berücksichtigt werden, dass das DSM verschiedenen, teilweise konträren Zielstellungen dient. Eine kontroverse Bewertung der Neuauflage ist daher zu erwarten.
DOI: 10.6084/m9.figshare.5125864
title: Supplementary Material for: Optimal Oxygenation of Extremely Low Birth Weight Infants: A Meta-Analysis and Systematic Review of the Oxygen Saturation Target Studies

description: <b><i>Background:</i></b> The optimal oxygen saturation for extremely low birth weight infants in the postnatal period beyond the delivery room is not known. <b><i>Objectives:</i></b> To summarize and discuss the results of the randomized trials, constituting the NEOPROM (Neonatal Oxygenation Prospective Meta-analysis) collaborative study, examining the effect of low versus high functional oxygen saturation targets in the postnatal period in premature infants with gestational age &lt;28 weeks. <b><i>Methods:</i></b> A meta-analysis of SUPPORT (Surfactant, Positive Pressure and Pulse Oximetry Randomized Trial), the three BOOST II (Benefits of Oxygen Saturation Targeting) studies and the COT (Canadian Oxygen Trial) was performed including a total of 4,911 infants randomized to either a low (85-89%) or high (91-95%) functional oxygen saturation (SpO<sub>2</sub>) within the first 24 h after birth. <b><i>Results:</i></b> Relative risks (RR; 95% CIs) comparing a low versus a high oxygen saturation target were 1.41 (1.14-1.74) for mortality at discharge or at follow-up, 0.74 (0.59-0.92) for severe retinopathy of prematurity, 0.95 (0.86-1.04) for physiologic bronchopulmonary dysplasia, 1.25 (1.05-1.49) for necrotizing enterocolitis, 1.02 (0.88-1.19) for brain injury, and 1.01 (0.95-1.08) for patent ductus arteriosus. RR &gt;1.0 favors a high oxygen saturation. <b><i>Conclusions:</i></b> RRs for mortality and necrotizing enterocolitis are significantly increased and severe retinopathy of prematurity significantly reduced in low compared to high oxygen saturation target infants. There are no differences regarding physiologic bronchopulmonary dysplasia, brain injury or patent ductus arteriosus between the groups. Based on these results, it is suggested that functional SpO<sub>2</sub> should be targeted at 90-95% in infants with gestational age &lt;28 weeks until 36 weeks' postmenstrual age. However, there are still several unanswered questions in this field.
DOI: 10.6084/m9.figshare.5125870.v1
title: Supplementary Material for: <b><i>MYH9</i></b>-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations

description: We describe a large four-generational Chinese pedigree segregating <i>MYH9</i>-related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed.
DOI: 10.6084/m9.figshare.5125858
title: Supplementary Material for: The Brain of the Horse: Weight and Cephalization Quotients

description: The horse is a common domestic animal whose anatomy has been studied since the XVI century. However, a modern neuroanatomy of this species does not exist and most of the data utilized in textbooks and reviews derive from single specimens or relatively old literature. Here, we report information on the brain of <i>Equus caballus</i> obtained by sampling 131 horses, including brain weight (as a whole and subdivided into its constituents), encephalization quotient (EQ), and cerebellar quotient (CQ), and comparisons with what is known about other relevant species. The mean weight of the fresh brains in our experimental series was 598.63 g (SEM ± 7.65), with a mean body weight of 514.12 kg (SEM ± 15.42). The EQ was 0.78 and the CQ was 0.841. The data we obtained indicate that the horse possesses a large, convoluted brain, with a weight similar to that of other hoofed species of like mass. However, the shape of the brain, the noteworthy folding of the neocortex, and the peculiar longitudinal distribution of the gyri suggest an evolutionary specificity at least partially separate from that of the Cetartiodactyla (even-toed mammals and cetaceans) with whom Perissodactyla (odd-toed mammals) are often grouped.
DOI: 10.6084/m9.figshare.5125864.v1
title: Supplementary Material for: Optimal Oxygenation of Extremely Low Birth Weight Infants: A Meta-Analysis and Systematic Review of the Oxygen Saturation Target Studies

description: <b><i>Background:</i></b> The optimal oxygen saturation for extremely low birth weight infants in the postnatal period beyond the delivery room is not known. <b><i>Objectives:</i></b> To summarize and discuss the results of the randomized trials, constituting the NEOPROM (Neonatal Oxygenation Prospective Meta-analysis) collaborative study, examining the effect of low versus high functional oxygen saturation targets in the postnatal period in premature infants with gestational age &lt;28 weeks. <b><i>Methods:</i></b> A meta-analysis of SUPPORT (Surfactant, Positive Pressure and Pulse Oximetry Randomized Trial), the three BOOST II (Benefits of Oxygen Saturation Targeting) studies and the COT (Canadian Oxygen Trial) was performed including a total of 4,911 infants randomized to either a low (85-89%) or high (91-95%) functional oxygen saturation (SpO<sub>2</sub>) within the first 24 h after birth. <b><i>Results:</i></b> Relative risks (RR; 95% CIs) comparing a low versus a high oxygen saturation target were 1.41 (1.14-1.74) for mortality at discharge or at follow-up, 0.74 (0.59-0.92) for severe retinopathy of prematurity, 0.95 (0.86-1.04) for physiologic bronchopulmonary dysplasia, 1.25 (1.05-1.49) for necrotizing enterocolitis, 1.02 (0.88-1.19) for brain injury, and 1.01 (0.95-1.08) for patent ductus arteriosus. RR &gt;1.0 favors a high oxygen saturation. <b><i>Conclusions:</i></b> RRs for mortality and necrotizing enterocolitis are significantly increased and severe retinopathy of prematurity significantly reduced in low compared to high oxygen saturation target infants. There are no differences regarding physiologic bronchopulmonary dysplasia, brain injury or patent ductus arteriosus between the groups. Based on these results, it is suggested that functional SpO<sub>2</sub> should be targeted at 90-95% in infants with gestational age &lt;28 weeks until 36 weeks' postmenstrual age. However, there are still several unanswered questions in this field.
DOI: 10.6084/m9.figshare.5125855
title: Supplementary Material for: Inverse and Direct Cancer Comorbidity in People with Central Nervous System Disorders: A Meta-Analysis of Cancer Incidence in 577,013 Participants of 50 Observational Studies

description: <b><i>Background:</i></b> There is a lack of scientific consensus about cancer comorbidity in people with central nervous system (CNS) disorders. This study assesses the co-occurrence of cancers in patients with CNS disorders, including Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), autism spectrum disorders, Down's syndrome (DS), Huntington's disease (HD), multiple sclerosis (MS), Parkinson's disease (PD) and schizophrenia (SCZ). <b><i>Method:</i></b> Comprehensive search in PubMed/MEDLINE, Scopus and ISI Web of Knowledge of the literature published before March 2013. We identified 51 relevant articles from 2,229 discrete references, 50 of which contained data suitable for quantitative synthesis (577,013 participants). Pooled effect sizes (ES) were calculated using multiple random-effects meta-analyses. Sources of heterogeneity and uncertainty were explored by means of subgroup and sensitivity analyses, respectively. <b><i>Results:</i></b> The presence of CNS disorders was associated with a reduced co-occurrence of cancer (ES = 0.92; 95% confidence interval, CI: 0.87-0.98; I<sup>2</sup> = 94.5%). A consistently lower overall co-occurrence of cancer was detected in patients with neurodegenerative disorders (ES = 0.80; 95% CI: 0.75- 0.86; I<sup>2</sup> = 82.8%), and in those with AD (ES = 0.32; 95% CI: 0.22-0.46; I<sup>2</sup> = 0.0%), PD (ES = 0.83; 95% CI: 0.76-0.91; I<sup>2</sup> = 80.0%), MS (ES = 0.91; 95% CI: 0.87-0.95; I<sup>2</sup> = 30.3%) and HD (ES = 0.53; 95% CI: 0.42-0.67; I<sup>2</sup> = 56.4%). Patients with DS had a higher overall co-occurrence of cancer (ES = 1.46; 95% CI: 1.08-1.96; I<sup>2</sup> = 87.9%). No association was observed between cancer and ALS (ES = 0.97; 95% CI: 0.76-1.25; I<sup>2</sup> = 0.0%) or SCZ (ES = 0.98; 95% CI: 0.90-1.07; I<sup>2</sup> = 96.3%). Patients with PD, MS and SCZ showed (a) higher co-occurrence of some specific cancers (e.g. PD with melanoma, MS with brain cancers and SCZ with breast cancer), and (b) lower co-occurrence of other specific cancers (e.g. lung, prostate and colorectal cancers in PD; lung and prostate cancers in MS; and melanoma and prostate cancer in SCZ). <b><i>Conclusion:</i></b> Increased and decreased co-occurrence of cancer in patients with CNS disorders represents an opportunity to discover biological and non-biological connections between these complex disorders.
DOI: 10.6084/m9.figshare.5125873.v1
title: Supplementary Material for: Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

description: Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a heterogeneous overgrowth syndrome characterized by visceromegaly, macroglossia, tumor predisposition, and other congenital abnormalities. BWS is usually associated with abnormalities of chromosome 11p15, including (epi)genetic changes, paternal disomy and point mutations. A number of identical twin pairs, mostly female, have been reported to be clinically discordant for BWS. Studies of monozygotic twins discordant for BWS provide more information about failure in the DNA methylation maintenance machinery during very early embryonic development. Here, we report a case of monozygotic male twins discordant for BWS phenotype. Methylation analysis of the 2 imprinted domains at 11p15.5 (H19DMR and KvDMR) was performed by methylation-specific MLPA and pyrosequencing of DNA extracted from peripheral blood and buccal swabs of both twins. Hypomethylation at KvDMR was identified in both cell types of the affected twin, whereas his healthy brother presented hypomethylation only in blood cells and a normal methylation profile in buccal swab. For diagnostic purposes, it is important to remember that twins can share fetal circulation and possibly share hematopoietic stem cells early in development; therefore, the affected and unaffected twins can share an epigenotype that will resemble partial hypomethylation. If a patient is a twin, it is valuable to obtain a sample from a tissue other than blood.
DOI: 10.6084/m9.figshare.5125846
title: Supplementary Material for: Functional Correlates of Increasing Gestural Articulatory Fluency Using a Miniature Second-Language Approach

description: <b><i>Objectives:</i></b> Gesture-based second languages have become an important tool in the rehabilitation of language-impaired subpopulations. Acquiring the ability to use manual gestures as a means to construct meaningful utterances places unique demands on the brain. This study identified changes in the blood oxygen level-dependent (BOLD) signal associated with the development of gestural fluency using a miniature second-language-based approach. <b><i>Participants and Methods:</i></b> Twelve healthy right-handed adults (19-31 years) were trained to produce sequences of meaningful gestures over a period of 2 weeks. Functional magnetic resonance imaging was used to identify brain regions involved in actual and imagined production of meaningful sentences both before (nonfluent production) and after (fluent production) practice. <b><i>Results:</i></b> Brain areas showing learning-dependent increases in activity associated with the development of fluency included sites associated with language articulation, while learning-related decreases in the BOLD signal were observed in cortical networks associated with motor imagery, and native language processing. <b><i>Conclusion:</i></b> These findings provide novel insights regarding the neural basis of fluency that could inform the design of interventions for treating speech disorders characterized by the loss of fluency.
DOI: 10.6084/m9.figshare.5125849
title: Supplementary Material for: Optimal Intravascular Ultrasound Criteria for Defining the Functional Significance of Intermediate Coronary Stenosis: An International Multicenter Study

description: <b><i>Objective:</i></b> We aimed to assess the ideal cut-off value of minimal lumen area (MLA) by intravascular ultrasound (IVUS) and its diagnostic performance to predict ischemia, using a large-scale, pooled analysis. <b><i>Methods:</i></b> Eleven centers worldwide were invited to provide their clinical, IVUS and fractional flow reserve (FFR) data. A total of 881 lesions were enrolled. <b><i>Results:</i></b> Angiographic % diameter stenosis (r = -0.373, p &lt; 0.0001) and IVUS MLA (r = 0.289, p &lt; 0.0001) correlated with FFR. Best cut-off value (BCV) of IVUS MLA to define the functional significance (FFR &lt;0.8) was 2.75 mm<sup>2</sup> (AUC 0.646, 95% CI 0.609-0.684). When the diagnostic performance of IVUS MLA was tested according to the lesion location, BCV could be found only in lesions in the proximal artery and the mid-left anterior descending artery. Interestingly, Asians (n = 623) and Westerners (n = 258) showed different demographic and lesion characteristics as well as different BCVs to define ischemia. The BCV for the proximal/mid-left anterior descending artery lesions was 2.75 mm<sup>2</sup> (AUC 0.688, 95% CI 0.635-0.742) in Asians and 3.0 mm<sup>2</sup> (AUC 0.695, 95% CI 0.605-0.786) in Westerners. <b><i>Conclusion:</i></b> In this pooled analysis, an IVUS MLA of 2.75 mm<sup>2</sup> was the BCV to define the functional significance of intermediate coronary stenosis. However, when IVUS MLA is used to determine the functional significance, both the lesion and patient characteristics should be considered.