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256 results for “sporadic”
Study of Long-term Safety, Efficacy Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis
ClinicalTrials.gov study NCT02250443. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Identification of immune-related candidate biomarkers in plasma of patients with sporadic vestibular schwannoma
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Data from: Sporadic sampling not climatic forcing drives observed early hominin diversity
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Data from: Sporadic feeding regulates robust food entrainable circadian clocks in blind cavefish
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The c-Abl inhibitor IkT-148009 therapeutically suppresses neurodegeneration in models of heritable and sporadic Parkinson’s Disease
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Modifiable cardiovascular risk factors in patients with sporadic cerebral cavernous malformations: obesity matters
Objective <p>To assess the influence of modifiable cardiovascular risk factors on hemorrhage risk of sporadic cerebral cavernous malformations (CCMs).</p> Methods <p>From 1219 consecutive CCM patients (2003-2018), adult subjects with sporadic CCM and complete MRI were included. We evaluated presence of intracerebral hemorrhage (ICH) as mode of presentation, occurrence of ICH during follow-up and risk factors arterial hypertension, diabetes mellitus, hyperlipidemia, nicotine abuse, and obesity (BMI>30kg/m²). Impact of risk factors on ICH at presentation was calculated using univariate and multivariate logistic regression with age- and sex-adjustment. We performed Kaplan Meier and Cox regression to analyze cumulative 5-year-risk for (re-)bleeding. </p> Results <p>We included 682 CCM patients. The univariate logistic regression showed a significant relationship (OR=1.938, 95% CI: (1.120–3.353), p=0.018) between obesity and ICH as mode of presentation. Multivariate adjusted logistic regression confirmed significant correlation with OR=1.902 (95% CI: 1.024–3.532, p=0.042). Cox regression did not identify predictors for occurrence of (re-)hemorrhage (p>0.05; Hazard ratios: arterial hypertension 1.112 (95% CI: 0.622–1.990), diabetes 0.850 (95% CI: 0.208–3.482), hyperlipidemia 0.719 (95% CI: 0.261–1.981), nicotine abuse 1.123 (95% CI: 0.591–2.134), and obesity 0.928 (95% CI: 0.416–2.070)). </p> Conclusions <p>This study provides evidence that obesity may be a risk factor for CCM hemorrhage. It was significantly associated with ICH as mode of presentation. Other risk factors (arterial hypertension, diabetes mellitus, hyperlipidemia and current nicotine abuse) showed no such effect. None of the factors showed to be independent predictors for cumulative 5-year-risk of (re-)bleeding. </p>
Distribution. Only confirmed existing population in Termit and Tin Toumma regions of EC Niger; however, there is a recent confirmed sighting from C Mauritania and sporadic records from E Air Mountains in Niger, the Equey region in W Chad, S Algeria, Libya, and the Mali/ Mauritania border. in Bovidae
Distribution. Only confirmed existing population in Termit and Tin Toumma regions of EC Niger; however, there is a recent confirmed sighting from C Mauritania and sporadic records from E Air Mountains in Niger, the Equey region in W Chad, S Algeria, Libya, and the Mali/ Mauritania border.
Distribution. SW India (Karnataka, Kerala, and Tamil Nadu states); it occurs sporadically in montane forests of the Western Ghats from Srimangala (12° 01' N, 75° 58' E) in Karnataka S to the Aramboli Pass (8° 16' N) in Kerala. in Cercopithecidae
Distribution. SW India (Karnataka, Kerala, and Tamil Nadu states); it occurs sporadically in montane forests of the Western Ghats from Srimangala (12° 01' N, 75° 58' E) in Karnataka S to the Aramboli Pass (8° 16' N) in Kerala.
on the annual asymmetry of high-latitude sporadic-F
<p>sami3 dataset used in the paper 'on the annual asymmetry of high-latitude sporadic-F'</p>
Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage
<p><b>Objective</b><br> To test the genetic contribution of rare missense variants in <i>COL4A1</i> and <i>COL4A2</i> in which common variants are genetically associated with sporadic intracerebral hemorrhage (ICH), we performed rare variant analysis in multiple sequencing data for the risk for sporadic ICH.</p> <p><b>Methods</b><br> We performed sequencing across 559Kbp at 13q34 including <i>COL4A1</i> and <i>COL4A2</i> among 2,133 individuals (1,055 ICH cases; 1,078 controls) in US-based and 1,492 individuals (192 ICH cases; 1,300 controls) from Scotland-based cohorts, followed by sequence annotation, functional impact prediction, genetic association testing, and <i>in silico</i> thermodynamic modeling.</p> <p><b>Results</b><br> We identified 107 rare nonsynonymous variants in sporadic ICH, of which 2 two missense variants, rs138269346 (COL4A1<sup>I110T</sup>) and rs201716258 (COL4A2<sup>H203L</sup>), were predicted to be highly functional and occurred in multiple ICH cases but not in controls from the US-based cohort. The minor allele of rs201716258 was also present in Scottish ICH patients, and rs138269346 was observed in two ICH-free controls with a history of hypertension and myocardial infarction. Rs138269346 was nominally associated with non-lobar ICH risk (P=0.05), but not with lobar ICH (P=0.08), while associations between rs201716258 and ICH subtypes were non-significant (P>0.12). Both variants were considered pathogenic based on minor allele frequency (<0.00035 in EUR), predicted functional impact (<i>deleterious</i> or <i>probably</i> <i>damaging</i>), and <i>in silico</i> modeling studies (substantially altered physical length and thermal stability of collagen).</p> <p><b>Conclusions</b><br> We identified rare missense variants in <i>COL4A1</i>/<i>A2</i> in association with sporadic ICH. Our annotation and simulation studies suggest that these variants are highly functional and may represent targets for translational follow-up.</p>
Sporadic pseudohypoparathyroidism type 1B in monozygotic twins: insights into the pathogenesis of methylation defects
<p>Context: Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the <i>GNAS</i> gene.</p> <p>Objective: This work aims to provide insights into the causative event leading to the <i>GNAS</i> methylation defects through comprehensive molecular genetic analyses of a pair of female monozygotic twins concordant for sporPHP1B who were conceived naturally i.e., without assisted reproductive techniques.</p> <p>Methods: Using the leukocyte genome of the twins and family members, we performed targeted bisulfite sequencing, methylation-sensitive restriction enzyme (MSRE)-qPCR, whole-genome sequencing (WGS), high-density SNP array, and Sanger sequencing.</p> <p>Results: Methylation analyses by targeted bisulfite sequencing and MSRE-qPCR revealed almost complete loss of methylation at the <i>GNAS</i> AS, XL, and A/B DMRs and gain of methylation at the NESP55 DMR in the twins, but not in other family members. Except for the <i>GNAS</i> locus, we did not find apparent methylation defects at other imprinted genome loci of the twins. WGS, SNP array, and Sanger sequencing did not detect the previously described genetic defects associated with familial PHP1B. Sanger sequencing also ruled out any novel genetic alterations in the entire NESP55/AS region. However, the analysis of 28 consecutive SNPs could not exclude the possibility of paternal heterodisomy in a span of 22 kb comprising exon NESP55 and AS exon 5.</p> <p>Conclusion: Our comprehensive analysis of a pair of monozygotic twins with sporPHP1B ruled out all previously described genetic causes. Twin concordance indicates that the causative event was an imprinting error earlier than the timing of monozygotic twinning.</p>
High-Resolution Sporadic E Layer Observation Based on Ionosonde using a Cross-Spectrum Analysis Imaging Technique
<p>The package includes the data used in Figures 1 to 6 in the paper “High-Resolution Sporadic E Layer Observation Based on Ionosonde using a Cross-Spectrum Analysis Imaging Technique".</p> <p>Since the raw data of the ionosonde is quite large and difficult to upload, the echo data of the Es layer after high-resolution imaging processing is packed together and uploaded here.</p> <p>All data can be imported and viewed directly by MATLAB with the function of "imagesc".</p> <p>Due to internal delay, the actual range should be obtained by subtracting 5 range bins.</p>
Effects of medication intake on the risk of haemorrhage in patients with sporadic cerebral cavernous malformations
<p>Objective:</p> <p>Recurrent intracerebral hemorrhage (ICH) poses a high risk for patients with cerebral cavernous malformations (CCMs). This study aimed to assess the influence of medication intake on hemorrhage risk in sporadic CCMs.</p> <p>Results:</p> <p>A total of 1116 patients with CCM were included. Logistic regression analysis showed a significant correlation (OR: 0.520, 95% CI: 0.284–0.951, p = 0.034) between antithrombotic therapy and ICH as a mode of presentation. Cox regression analysis revealed no significant correlation between medication intake and occurrence of (re-)hemorrhage (hazard ratios: betablockers 1.270 [95% CI: 0.703–2.293], statins 0.543 [95% CI: 0.194–1.526], antithrombotic therapy 0.507 [95% CI: 0.182–1.410], and thyroid hormones 0.834 [95% CI: 0.378–1.839]).</p> <p>Conclusion:</p> <p>In this observational study, antithrombotic treatment was associated with the tendency to a lower rate of ICH as a mode of presentation n a large cohort of patients with sporadic CCM. Intake of beta blockers, statins, and thyroid hormones had no eect on hemorrhage as a mode of presentation. During the 5-year follow-up period, none of the drugs aected the further risk Q7 of (re-)hemorrhage.</p>
Understanding the diurnal cycle of midlatitude sporadic E. The role of metal atoms.
<p>We provide the Arecibo dataset and the FORTRAN program used to produce Figure 4, of the paper (MS# 2023JA031336) enitled "Understanding the diurnal variation of midlatitude sporadic E. The role of metal atoms- ", which was submitted for publication in the Journal of Geophysical Research - Space Physics, January 2023.Write to Christos Haldoupis</p> <p> </p>
Understanding the diurnal cycle of midlatitude sporadic E. The role of metal atoms
<p>We provide the Arecibo dataset and the FORTRAN program used to produce Figure 4, of the paper (MS# 2023JA031336) entitled "Understanding the diurnal variation of midlatitude sporadic E. The role of metal atoms- ", which was submitted for publication in the Journal of Geophysical Research - Space Physics.</p>
Understanding the diurnal cycle of midlatitude sporadic E. The role of metal atoms
<p>We provide the Arecibo dataset and the FORTRAN program used to produce Figure 4, of the paper (MS# 2023JA031336) entitled "Understanding the diurnal variation of midlatitude sporadic E. The role of metal atoms- ", which was submitted for publication in the Journal of Geophysical Research - Space Physics.</p>
Understanding the diurnal cycle of midlatitude sporadic E. The role of metal atoms.
<p>Dataset and FORTRAN program used to produce Figure 4, of the paper (MS# 2023JA031336) entitled "Understanding the diurnal variation of midlatitude sporadic E. The role of metal atoms- ", which was submitted for publication in the Journal of Geophysical Research - Space Physics. The data file was provided by Qihou Zhou of Miami University in Ohio and the program by co-author Chris Meek, University of Saskatchewan.</p>
Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM
ClinicalTrials.gov study NCT00457808. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes
ClinicalTrials.gov study NCT01200680. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Genetics of Familial and Sporadic ALS
ClinicalTrials.gov study NCT00821132. IPD Sharing: NO. Countries: 1. Publications: 62.
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Allen Brain Atlas
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The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
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