cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.6850136
title: A novel <i>SLC1A4</i> homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

description: Biallelic mutations in the <i>SLC1A4</i> gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of <i>SLC1A4</i> mutation patients. To date this genetic condition has been reported almost exclusively in a limited number of Ashkenazi-Jewish individuals and as a result the <i>SLC1A4</i> gene is not routinely included in the majority of the genetic diagnostic panels for neurological diseases. We hereby report a 7-year-old boy from a Southern Italian family, presenting with epileptic encephalopathy, congenital microcephaly, global developmental delay, severe hypotonia, spasticity predominant at the lower limbs, and thin corpus callosum. Whole exome sequencing identified a novel segregating <i>SLC1A4</i> gene homozygous mutation (c.1141G &gt; A: p.Gly381Arg) as the likely cause of the disease in our family. In order to deeply characterize the electro-clinical and neurological phenotype in our index patient, long-term systematic video-electroencephalograms (EEG) as well as repeated brain imaging studies (which included tractographic reconstructions) were performed on a regular basis during a 7 years follow-up time. In conclusion, we suggest to carefully considering <i>SLC1A4</i> biallelic mutations in individuals presenting an early onset severe neurodevelopmental disorder with variable spasticity and seizures, regardless the patients’ ethnic background.
DOI: 10.6084/m9.figshare.6850136.v2
title: A novel <i>SLC1A4</i> homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

description: Biallelic mutations in the <i>SLC1A4</i> gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of <i>SLC1A4</i> mutation patients. To date this genetic condition has been reported almost exclusively in a limited number of Ashkenazi-Jewish individuals and as a result the <i>SLC1A4</i> gene is not routinely included in the majority of the genetic diagnostic panels for neurological diseases. We hereby report a 7-year-old boy from a Southern Italian family, presenting with epileptic encephalopathy, congenital microcephaly, global developmental delay, severe hypotonia, spasticity predominant at the lower limbs, and thin corpus callosum. Whole exome sequencing identified a novel segregating <i>SLC1A4</i> gene homozygous mutation (c.1141G &gt; A: p.Gly381Arg) as the likely cause of the disease in our family. In order to deeply characterize the electro-clinical and neurological phenotype in our index patient, long-term systematic video-electroencephalograms (EEG) as well as repeated brain imaging studies (which included tractographic reconstructions) were performed on a regular basis during a 7 years follow-up time. In conclusion, we suggest to carefully considering <i>SLC1A4</i> biallelic mutations in individuals presenting an early onset severe neurodevelopmental disorder with variable spasticity and seizures, regardless the patients’ ethnic background.
DOI: 10.6084/m9.figshare.6850136.v1
title: A novel <i>SLC1A4</i> homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

description: Biallelic mutations in the <i>SLC1A4</i> gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of <i>SLC1A4</i> mutation patients. To date this genetic condition has been reported almost exclusively in a limited number of Ashkenazi-Jewish individuals and as a result the <i>SLC1A4</i> gene is not routinely included in the majority of the genetic diagnostic panels for neurological diseases. We hereby report a 7-year-old boy from a Southern Italian family, presenting with epileptic encephalopathy, congenital microcephaly, global developmental delay, severe hypotonia, spasticity predominant at the lower limbs, and thin corpus callosum. Whole exome sequencing identified a novel segregating <i>SLC1A4</i> gene homozygous mutation (c.1141G &gt; A: p.Gly381Arg) as the likely cause of the disease in our family. In order to deeply characterize the electro-clinical and neurological phenotype in our index patient, long-term systematic video-electroencephalograms (EEG) as well as repeated brain imaging studies (which included tractographic reconstructions) were performed on a regular basis during a 7 years follow-up time. In conclusion, we suggest to carefully considering <i>SLC1A4</i> biallelic mutations in individuals presenting an early onset severe neurodevelopmental disorder with variable spasticity and seizures, regardless the patients’ ethnic background.
DOI: 10.6084/m9.figshare.6850097
title: What is the effect of intertwin delivery interval on the outcome of the second twin delivered vaginally?

description: <b>Objective:</b> Optimal management of twin deliveries is controversial. We aimed to assess if intertwin delivery interval, after vaginal delivery of the first twin, may have an influence on adverse neonatal outcomes of the second twin <b>Study design:</b> This is a retrospective observational study including diamniotic twin pregnancies with vaginal delivery of the first twin, between January 2000 and July 2017. Inclusion criteria were diamniotic pregnancies and vaginal delivery of the first twin. We excluded higher twin order, monoamniotic pregnancies, cesarean delivery of the first twin and patients with missing data. <b>Results:</b> A number of 400 diamniotic twin pregnancies met the inclusion criteria and were divided, considering intertwin delivery interval into (1) ≤30 minutes (<i>n</i> = 365); and (2) &gt;30 minutes (<i>n</i> = 35). Considering the two study groups, maternal and first twin characteristics and outcomes were similar. Second twin reported higher incidence of cesarean section and vacuum delivery, but similar incidence of neonatal adverse outcomes, in case of intertwin interval &gt;30 minutes. At multivariate analysis, a difference between second and first twin weight ≥25% was correlated to neonatal adverse outcome, while we did not found this correlation with a cut-off of 30 minutes. <b>Conclusions:</b> In our study, growth discrepancy between twins was significantly correlated to adverse neonatal outcomes, while intertwin delivery time was not an influencing factor. So, in line with this result, in our clinical practice, we do not use a fixed time in which both twins should be delivered, neither in monochorionic nor in dichorionic pregnancies, when fetal wellbeing was demonstrated during labor.
DOI: 10.6084/m9.figshare.6850097.v1
title: What is the effect of intertwin delivery interval on the outcome of the second twin delivered vaginally?

description: <b>Objective:</b> Optimal management of twin deliveries is controversial. We aimed to assess if intertwin delivery interval, after vaginal delivery of the first twin, may have an influence on adverse neonatal outcomes of the second twin <b>Study design:</b> This is a retrospective observational study including diamniotic twin pregnancies with vaginal delivery of the first twin, between January 2000 and July 2017. Inclusion criteria were diamniotic pregnancies and vaginal delivery of the first twin. We excluded higher twin order, monoamniotic pregnancies, cesarean delivery of the first twin and patients with missing data. <b>Results:</b> A number of 400 diamniotic twin pregnancies met the inclusion criteria and were divided, considering intertwin delivery interval into (1) ≤30 minutes (<i>n</i> = 365); and (2) &gt;30 minutes (<i>n</i> = 35). Considering the two study groups, maternal and first twin characteristics and outcomes were similar. Second twin reported higher incidence of cesarean section and vacuum delivery, but similar incidence of neonatal adverse outcomes, in case of intertwin interval &gt;30 minutes. At multivariate analysis, a difference between second and first twin weight ≥25% was correlated to neonatal adverse outcome, while we did not found this correlation with a cut-off of 30 minutes. <b>Conclusions:</b> In our study, growth discrepancy between twins was significantly correlated to adverse neonatal outcomes, while intertwin delivery time was not an influencing factor. So, in line with this result, in our clinical practice, we do not use a fixed time in which both twins should be delivered, neither in monochorionic nor in dichorionic pregnancies, when fetal wellbeing was demonstrated during labor.
DOI: 10.6084/m9.figshare.6850013
title: Lab Package Longitudinal Study of TDD UniBA

description: Contains the material to replicate experiment presented in 10.1145/3239235.3240502<br>
DOI: 10.6084/m9.figshare.6850013.v1
title: Lab Package Longitudinal Study of TDD UniBA

description: Contains the material to replicate experiment presented in 10.1145/3239235.3240502<br>
DOI: 10.6084/m9.figshare.6850004
title: Japanese white-eyes as flower visitors of Taxillus kaempferi

description: Japanese white-eyes (Zosterops japonicus) are main flower visitors of Taxillus kaempferi (Loranthaceae) in a temperate forest in central Japan.<br>Reference sourceFunamoto D & Sugiura S (2017) Japanese white-eyes (Aves: Zosteropidae) as potential pollinators of summer-flowering Taxillus kaempferi (Loranthaceae). Journal of Natural History 51:1649-1656. (https://doi.org/10.1080/00222933.2017.1339366)
DOI: 10.6084/m9.figshare.6849977
title: COMMSBIO-18-0374B Fig. 2 Electrophysiology

description: "SLO potassium channels antagonize premature decision making in <i>C. elegans"</i>Fig. 2
DOI: 10.6084/m9.figshare.6850004.v1
title: Japanese white-eyes as flower visitors of Taxillus kaempferi

description: Japanese white-eyes (Zosterops japonicus) are main flower visitors of Taxillus kaempferi (Loranthaceae) in a temperate forest in central Japan.<br>Reference sourceFunamoto D & Sugiura S (2017) Japanese white-eyes (Aves: Zosteropidae) as potential pollinators of summer-flowering Taxillus kaempferi (Loranthaceae). Journal of Natural History 51:1649-1656. (https://doi.org/10.1080/00222933.2017.1339366)
DOI: 10.6084/m9.figshare.6849977.v1
title: COMMSBIO-18-0374B Fig. 2 Electrophysiology

description: "SLO potassium channels antagonize premature decision making in <i>C. elegans"</i>Fig. 2
DOI: 10.6084/m9.figshare.6849827
title: Drone mosaics of Birsay dykes

description: UAV acquire drone mosaics from Birsay, Orkney (UK). <br><br>Details published in Healy et al., 2018 Volcanica<br>
DOI: 10.6084/m9.figshare.6849806
title: Dendang Lain Waktu

description: Pementasan Puisi Dendang Lain Waktu dengan pendatang Baru aktris cilik bernama Lyonnie<br>
DOI: 10.6084/m9.figshare.6849791
title: WVC_clusters_controls.csv

description: Data describes the factors derived for ungulate-vehicle collisions (75 cases, the KDE+ clusters, and 75 controls, crashes outside clusters) which took place on Czech roads between 2012 and 2016.<br>
DOI: 10.6084/m9.figshare.6849719
title: EMEN_QoC

description: These are data from EMEN Baseline assessment
DOI: 10.6084/m9.figshare.6849719.v1
title: EMEN_QoC

description: These are data from EMEN Baseline assessment
DOI: 10.6084/m9.figshare.6849689
title: Analysis of bioactive components in Ghost chili (<i>Capsicum chinense</i>) for antioxidant, genotoxic, and apoptotic effects in mice

description: Apart from using traditionally in culinary preparations, chili peppers are also important constituents of herbal medicines. Although the bioactive components are studied mostly in the fruits of <i>Capsicum annuum</i>, no such study reports till date is available for Ghost chili (<i>C. chinense</i>) from North East India. Therefore, the aim of this study was to carry out an analysis of the bioactive constituents in the naturally occurring hottest chili Ghost chili (<i>C. chinense</i>), and evaluate its antioxidant, pro/anti-genotoxic, and apoptotic effects in <i>in vitro</i> and <i>in vivo</i> models. Three different antioxidant assays showed that lower doses of Ghost chili extract showed higher DNA protective and antioxidant activities. Furthermore, the administration for 7 alternate days into 6 week old Swiss albino mice showed that the lower doses (50 and 100 mg/kg bw) reduced DMBA induced genotoxicity beside significantly enhancing the activities of hepatic antioxidant enzymes, while higher dose (200 mg/kg bw) induced genotoxic effect in bone marrow cells. The administration of higher dose (200 mg/kg bw) also induced apoptosis and upregulation of <i>Bax</i> (pro) and downregulation of <i>Bcl-2</i> (anti) apoptotic genes. Dose dependent increase of apoptosis was also observed in Hep G2 and Hep 3B liver cancer cell lines. Our findings in the present study suggest that low doses of <i>C. chinense</i> can exert cancer chemopreventive effects. The induction of apoptosis in both cancer cell lines and mouse bone marrow cells, and up-regulation of proapoptotic genes suggests that the higher dose of <i>C. chinense</i> can be used for targeted cancer therapy.
DOI: 10.6084/m9.figshare.6849689.v1
title: Analysis of bioactive components in Ghost chili (<i>Capsicum chinense</i>) for antioxidant, genotoxic, and apoptotic effects in mice

description: Apart from using traditionally in culinary preparations, chili peppers are also important constituents of herbal medicines. Although the bioactive components are studied mostly in the fruits of <i>Capsicum annuum</i>, no such study reports till date is available for Ghost chili (<i>C. chinense</i>) from North East India. Therefore, the aim of this study was to carry out an analysis of the bioactive constituents in the naturally occurring hottest chili Ghost chili (<i>C. chinense</i>), and evaluate its antioxidant, pro/anti-genotoxic, and apoptotic effects in <i>in vitro</i> and <i>in vivo</i> models. Three different antioxidant assays showed that lower doses of Ghost chili extract showed higher DNA protective and antioxidant activities. Furthermore, the administration for 7 alternate days into 6 week old Swiss albino mice showed that the lower doses (50 and 100 mg/kg bw) reduced DMBA induced genotoxicity beside significantly enhancing the activities of hepatic antioxidant enzymes, while higher dose (200 mg/kg bw) induced genotoxic effect in bone marrow cells. The administration of higher dose (200 mg/kg bw) also induced apoptosis and upregulation of <i>Bax</i> (pro) and downregulation of <i>Bcl-2</i> (anti) apoptotic genes. Dose dependent increase of apoptosis was also observed in Hep G2 and Hep 3B liver cancer cell lines. Our findings in the present study suggest that low doses of <i>C. chinense</i> can exert cancer chemopreventive effects. The induction of apoptosis in both cancer cell lines and mouse bone marrow cells, and up-regulation of proapoptotic genes suggests that the higher dose of <i>C. chinense</i> can be used for targeted cancer therapy.
DOI: 10.6084/m9.figshare.6849647
title: What are the features of targeted or system-wide initiatives that affect diversity in health professions trainees? A BEME systematic review: BEME Guide No. 50

description: <b>Background/purpose:</b> There is interest to increase diversity among health professions trainees. This study aims to determine the features/effects of interventions to promote recruitment/admission of under-represented minority (URM) students to health professions programs. <b>Methodology:</b> This registered BEME review applied systematic methods to: title/full-text inclusion review, data extraction, and quality assessment (QA). Included studies reported outcomes for interventions designed to increase diversity of health professions education (HPE) programs’ recruitment and admissions. <b>Results:</b> Of 7225 studies identified 86 met inclusion criteria. Interventions addressed: admissions (34%), enrichment (19%), outreach (15%), curriculum (3%), and mixed (29%). They were mostly single center (76%), from the United States (81%), in medicine (45%) or dentistry (22%). URM definition was stated in only 24%. The dimension most commonly considered was ethnicity/race (88%). The majority of studies (81%) found positive effects. Heterogeneity precluded meta-analysis. Qualitative analysis identified key features: admissions studies points systems and altered weightings; enrichment studies highlighted academic, application and exam preparation, and workplace exposure. <b>Discussion/conclusions:</b> Several intervention types may increase diversity. Limited applicant pools were a rate-limiting feature, suggesting efforts earlier in the continuum are needed to broaden applicant pools. There is a need to examine underlying cultural and external pressures that limit programs’ acceptance of initiatives to increase diversity.
DOI: 10.6084/m9.figshare.6849647.v1
title: What are the features of targeted or system-wide initiatives that affect diversity in health professions trainees? A BEME systematic review: BEME Guide No. 50

description: <b>Background/purpose:</b> There is interest to increase diversity among health professions trainees. This study aims to determine the features/effects of interventions to promote recruitment/admission of under-represented minority (URM) students to health professions programs. <b>Methodology:</b> This registered BEME review applied systematic methods to: title/full-text inclusion review, data extraction, and quality assessment (QA). Included studies reported outcomes for interventions designed to increase diversity of health professions education (HPE) programs’ recruitment and admissions. <b>Results:</b> Of 7225 studies identified 86 met inclusion criteria. Interventions addressed: admissions (34%), enrichment (19%), outreach (15%), curriculum (3%), and mixed (29%). They were mostly single center (76%), from the United States (81%), in medicine (45%) or dentistry (22%). URM definition was stated in only 24%. The dimension most commonly considered was ethnicity/race (88%). The majority of studies (81%) found positive effects. Heterogeneity precluded meta-analysis. Qualitative analysis identified key features: admissions studies points systems and altered weightings; enrichment studies highlighted academic, application and exam preparation, and workplace exposure. <b>Discussion/conclusions:</b> Several intervention types may increase diversity. Limited applicant pools were a rate-limiting feature, suggesting efforts earlier in the continuum are needed to broaden applicant pools. There is a need to examine underlying cultural and external pressures that limit programs’ acceptance of initiatives to increase diversity.
DOI: 10.6084/m9.figshare.6849590
title: dbf files for ipcmaps

description: map data for ipcmaps<br>
DOI: 10.6084/m9.figshare.6849590.v1
title: dbf files for ipcmaps

description: map data for ipcmaps<br>
DOI: 10.6084/m9.figshare.6849260.v2
title: THE ECONOMIC STRENGHT IN MINANGKABAU ORAL LITERATURE

description: This paper discusses economic power in Minangkabau oral literature. The case is the oral literature <i>bagurau</i>. Oral literature consists not only of text, but also of context. The text and context contain economic power, which drives the oral literature and wheels of the collective economy of its audiences. <br>
DOI: 10.6084/m9.figshare.6849224
title: penguatan kara

description: Ideologi Masyarakat Miangkabau dalam Novel_novel Pengarang sumatera barat
DOI: 10.6084/m9.figshare.12888557
title: Table S.1. Optimal film widths for conventional wrapping method

description: Table S.1 The optimal film widths for 'uniform' overlap ratios and pre-assumed number of film layers for conventional wraping technique in the range [0.4,0.9] m.<br>Supplementary material
DOI: 10.6084/m9.figshare.12888557.v1
title: Table S.1. Optimal film widths for conventional wrapping method

description: Table S.1 The optimal film widths for 'uniform' overlap ratios and pre-assumed number of film layers for conventional wraping technique in the range [0.4,0.9] m.<br>Supplementary material
DOI: 10.6084/m9.figshare.6849155.v1
title: A More Compassionate Shylock

description: There is latent hazard of a film version in nullifying and manipulating its precursor text. Meanwhile, film, is in fact a very potential medium to do so as it provide its spectators with almost no choice of interpretation and forces them to adapt the conception of the director.
DOI: 10.6084/m9.figshare.6849122
title: buku cover.jpg

description: cerpen yang memiliki muatan budaya Minangkabau
DOI: 10.6084/m9.figshare.6849122.v1
title: buku cover.jpg

description: cerpen yang memiliki muatan budaya Minangkabau
DOI: 10.6084/m9.figshare.6849092
title: NEXUS file

description: NEXUS file used in parsimonay analysis in PAUP.<br>This matrix is reposited for the purpose of allowing the 2012 analyses to be reproduced. <br><br>An updated version of this matrix was published with Vitek et al. 2017. Journal of Systematic Palaeontology. It is archived on TreeBASE: http://purl.org/phylo/treebase/phylows/study/TB2:S19738. I recommend you work with that matrix.
DOI: 10.6084/m9.figshare.6849092.v1
title: NEXUS file

description: NEXUS file used in parsimonay analysis in PAUP.
DOI: 10.6084/m9.figshare.6849089.v1
title: Supplemental Material for Jie Chen et al., 2018

description: <b>Figure S1</b> contains location distribution of the mapped reads on mRNAs. <b>Figure S2 </b>contains simulation of the inserted fragment length distribution.<b>Figure S3</b> contains Simulation of the saturation status of the transcriptome sequencing data.<b>Table S1 </b>contains the primers used for QRT-PCR and siRNA suppression assays. <b>Table S2</b> contains TopGO enrichment results of differential expression genes. <br><b>Table S3 </b>contains KEGG pathway analysis of Top 20 differentially expressed genes associated with autophagy.<b>Supplementary figure legends</b> contains legends for each figure.<br><br>
DOI: 10.6084/m9.figshare.6849074
title: NEXUS file & scaffold

description: Includes- NEXUS file of character-taxon matrix and PAUP command block- Scaffold tree on which analysis depends.
DOI: 10.6084/m9.figshare.6849074.v1
title: Nexus file & scaffold

description: Includes- Nexus file of character-taxon matrix and PAUP command block- Scaffold tree on which analysis depends.
DOI: 10.6084/m9.figshare.6849074.v3
title: NEXUS file & scaffold

description: Includes- NEXUS file of character-taxon matrix and PAUP command block- Scaffold tree on which analysis depends.
DOI: 10.6084/m9.figshare.6849074.v2
title: Nexus file & scaffold

description: Includes- Nexus file of character-taxon matrix and PAUP command block- Scaffold tree on which analysis depends.
DOI: 10.6084/m9.figshare.6849068
title: Selectivity model data

description: (i) Raw cell growth measurements for drug interaction assays of 76 pairwise combinations in C. albicans and 8 pairwise combinations in S. cerevisiae. Each file contains a 64 column matrix of numbers, which corresponds to OD595 readings for one drug‐drug interaction. Rows correspond to different time points with 15 minutes intervals. Columns correspond to the 8 x 8 matrix of drug concentration combinations. (ii) dose-response measurements for 12 drugs in C. albicans and S. cerevisiae.
DOI: 10.6084/m9.figshare.6849050
title: data sheet 1.pdf

description: Kinetic model of inflammation (acute and chronic)<br>Initial data set<br>Network species<br><br>