cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5123071
title: Supplementary Material for: Hypoxia-Ischemia Upregulates TRAIL and TRAIL Receptors in the Immature Rat Brain

description: The immature brain is susceptible to inflammatory injury induced by hypoxia-ischemia (HI) or infection, which causes serious neurodevelopmental disabilities in the survivors of preterm births. Recently, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and its receptors (death receptor DR4/5 and decoy receptor DcR1/2) were reported to mediate various neuroinflammatory responses. However, little information is available regarding the role of TRAIL and its receptors in the immature brain after HI. The purpose of this study was to evaluate the expression of TRAIL and its receptors in the immature brain after HI and relate this expression to neurological function. We performed right common carotid artery ligation followed by hypoxia (6% O<sub>2</sub>, 37°C) for 2.5 h to induce HI in postnatal day 3 rats. The distribution of TRAIL and its receptors, caspase-3 and CD68-labeled microglia/macrophages was evaluated 24 h after HI by immunostaining. The protein and mRNA expression of TRAIL and DR5 was measured by Western blot and real-time PCR, respectively. Delayed neuronal loss was evaluated by NeuN and Nissl staining 7 days after HI. Furthermore, neurological deficits were evaluated by a righting reflex test, time of eye opening and T-maze test. The expression of TRAIL, DR5 and DcR1/2 receptors and caspase-3 was more pronounced in the ipsilateral hemisphere compared with the contralateral part and the control group 24 h after HI. DR5/active caspase-3 double-positive cells were observed at 24 h after HI in the ipsilateral hemisphere but not in the contralateral hemisphere. The TRAIL and CD68 double-labeled cells were more pronounced in the ipsilateral cortical regions compared with the corresponding regions of the contralateral part. HI also resulted in a significant increase in TRAIL and DR5 protein and mRNA expression at 24 h, which corresponded to neuronal cell loss 7 days after HI. Furthermore, the HI group displayed impaired neurobehavioral development compared with the control group (p &lt; 0.05). Altogether our results show that the TNF-α superfamily ligand TRAIL is induced on CD68+ microglia/macrophages after perinatal HI and that one of its receptors, DR5, is induced on neocortical neurons and glial cells. That many DR5+ cells were also caspase-3+ strongly supports the conclusion that these signaling molecules are involved in the delayed loss of neurons in the neocortex and in the neurobehavioral deficits that are often seen after perinatal HI.
DOI: 10.6084/m9.figshare.5123059
title: Supplementary Material for: Glomerular Density-Associated Changes in Clinicopathological Features of Minimal Change Nephrotic Syndrome in Adults

description: <i>Background:</i> Differences in nephron number and/or glomerular size between individuals, in relation to intrauterine growth retardation or low birth weight, have been suggested to affect the clinical course of minimal change nephrotic syndrome (MCNS) in children. However, no previous study has investigated the potential influences of these histological variables on the clinical course of adult patients with MCNS. <i>Methods:</i> The glomerular density (GD; the number of non-sclerotic glomeruli per renal cortical area) and the glomerular volume (GV) were evaluated using renal biopsy specimens from adult patients with a histological diagnosis of MCNS (n = 50). Relationships between these variables and clinicopathological features, including the initial response to corticosteroid therapy, were analyzed. <i>Results:</i> Both the GD (1.5–6.5/mm<sup>2</sup>) and the GV (1.2–4.4 × 10<sup>6</sup> µm<sup>3</sup>) showed about 4-fold variations, and a close inverse correlation was observed between these two variables. Notably, the MCNS patients with a low GD showed a trend towards having similar clinicopathological characteristics as patients with a histological diagnosis of focal segmental glomerular sclerosis, as compared to the MCNS patients with a high GD. In addition, during the initial treatment with corticosteroids, the number of patients achieving complete remission was significantly lower in the MCNS patients with a low GD than that in the MCNS patients with a high GD. <i>Conclusion:</i> These results suggest that the GD in renal biopsies may be an important determinant of the glomerular size variability, and can therefore influence the clinical phenotype, such as the response to corticosteroid therapy, in adult patients with MCNS.
DOI: 10.6084/m9.figshare.5123065
title: Supplementary Material for: Positional Vomiting as the Initial Manifestation of Bruns Syndrome due to Cysticercosis in the Fourth Ventricle: A Symptom Reminiscent of an Old Disease

description: Medicine
DOI: 10.6084/m9.figshare.5123068.v1
title: Supplementary Material for: Myocardial Strain Abnormalities in Fetal Congenital Heart Disease Assessed by Speckle Tracking Echocardiography

description: <b><i>Objectives:</i></b> To compare myocardial deformation patterns in fetuses with congenital heart disease (CHD) with our reference range using speckle tracking echocardiography. <b><i>Methods:</i></b> We prospectively stored and analyzed 4-chamber loops of 28 fetuses with CHD (median gestation 27 weeks, range 20.9–37.0). The peak longitudinal left (LVs) and right (RVs) ventricular free wall Lagrangian strain and LV/RV strain ratio were measured from Syngo VVI software- (Siemens) derived original coordinates. Strain values from the first examination were compared with normative data from the same population using ANOVA with post hoc tests and serial examinations described in 14 fetuses. <b><i>Results:</i></b> Simple shunt lesions (0.82) and shunts with pulmonary stenosis or atresia (0.93) had reduced mean LV/RV strain ratios compared to normal fetuses (1.01; 95% CI 0.97–1.05). Fetuses with hypoplastic left heart had the lowest (0.29), and those with Ebstein the highest (1.55), LV:RV ratio. Serial measurements showed increased LVs in aortic coarctation and aortic stenosis, but not in one developing important mitral regurgitation. Increased right ventricular loading in a fetus developing pulmonary regurgitation was associated with increasing RVs. <b><i>Conclusions:</i></b> Myocardial strain reflects the changing physiology of fetal CHD. Speckle tracking might be a useful tool to study the progress of myocardial function in affected fetuses.
DOI: 10.6084/m9.figshare.5123071.v1
title: Supplementary Material for: Hypoxia-Ischemia Upregulates TRAIL and TRAIL Receptors in the Immature Rat Brain

description: The immature brain is susceptible to inflammatory injury induced by hypoxia-ischemia (HI) or infection, which causes serious neurodevelopmental disabilities in the survivors of preterm births. Recently, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and its receptors (death receptor DR4/5 and decoy receptor DcR1/2) were reported to mediate various neuroinflammatory responses. However, little information is available regarding the role of TRAIL and its receptors in the immature brain after HI. The purpose of this study was to evaluate the expression of TRAIL and its receptors in the immature brain after HI and relate this expression to neurological function. We performed right common carotid artery ligation followed by hypoxia (6% O<sub>2</sub>, 37°C) for 2.5 h to induce HI in postnatal day 3 rats. The distribution of TRAIL and its receptors, caspase-3 and CD68-labeled microglia/macrophages was evaluated 24 h after HI by immunostaining. The protein and mRNA expression of TRAIL and DR5 was measured by Western blot and real-time PCR, respectively. Delayed neuronal loss was evaluated by NeuN and Nissl staining 7 days after HI. Furthermore, neurological deficits were evaluated by a righting reflex test, time of eye opening and T-maze test. The expression of TRAIL, DR5 and DcR1/2 receptors and caspase-3 was more pronounced in the ipsilateral hemisphere compared with the contralateral part and the control group 24 h after HI. DR5/active caspase-3 double-positive cells were observed at 24 h after HI in the ipsilateral hemisphere but not in the contralateral hemisphere. The TRAIL and CD68 double-labeled cells were more pronounced in the ipsilateral cortical regions compared with the corresponding regions of the contralateral part. HI also resulted in a significant increase in TRAIL and DR5 protein and mRNA expression at 24 h, which corresponded to neuronal cell loss 7 days after HI. Furthermore, the HI group displayed impaired neurobehavioral development compared with the control group (p &lt; 0.05). Altogether our results show that the TNF-α superfamily ligand TRAIL is induced on CD68+ microglia/macrophages after perinatal HI and that one of its receptors, DR5, is induced on neocortical neurons and glial cells. That many DR5+ cells were also caspase-3+ strongly supports the conclusion that these signaling molecules are involved in the delayed loss of neurons in the neocortex and in the neurobehavioral deficits that are often seen after perinatal HI.
DOI: 10.6084/m9.figshare.5123053
title: Supplementary Material for: Coamplification of Multiple Regions of Chromosome 2, Including MYCN, in a Single Patchwork Amplicon in Cancer Cell Lines

description: Coamplification of multiple segments of chromosome 2, including an <i>MYCN</i>-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32, respectively. FISH analysis demonstrated that these segments were co-localized in double minutes in NCI-H69 and in homogeneously staining regions in IMR-32. Connectivity of the segments was determined by a PCR assay using designed primer sets. It was found that all the segments were connected to each other irrespective of their order and orientation against the genome sequence, and a single chain-like cluster was configured in both cell lines. Such patchwork structures of the amplicons suggest the possibility that massive genomic rearrangements, explained by the single catastrophic event model, are involved in the formation of the amplicons, enabling the coamplification of different chromosomal regions including the <i>MYCN</i> locus. The model comprises massive fragmentation of chromosomes and random rejoining of the fragments.
DOI: 10.6084/m9.figshare.5123056
title: Supplementary Material for: Interaction between <i>VEGF Receptor-2</i> Gene Polymorphisms and Dietary Patterns on Blood Glucose and Lipid Levels in Chinese Malaysian Adults

description: <i>Background/Aims:</i> The prevalence of lifestyle-related chronic diseases is increasing and gene-diet interaction studies are limited among the Malaysian population. This study was conducted to evaluate the association and interaction effects of <i>vascular endothelial growth factor receptor-2</i><i>(VEGFR2)</i> gene polymorphisms and dietary patterns on anthropometric and biochemical risk factors of chronic diseases in 179 Chinese Malaysian adults. <i>Methods:</i> Genotyping of rs1870377 and rs2071559 was performed by real-time PCR using TaqMan probes. Dietary patterns were constructed from the food frequency questionnaire using factor analysis. Anthropometric measurements: body mass index (BMI), systolic and diastolic blood pressure and biomarkers: blood glucose, glycated hemoglobin A1c (HbA1c) and lipids were obtained. <i>Results:</i> Two dietary patterns: ‘Balanced diet’ and ‘Meat, rice and noodles diet’ (MRND) were extracted. MRND was associated with higher BMI, blood pressure, blood glucose and lipids, while T alleles in both rs1870377 and rs2071559 were associated with higher blood lipids (p &lt; 0.05). The interaction of MRND and rs1870377 had a borderline effect on blood HbA1c after adjusting for confounders (p = 0.057). <i>Conclusions:</i> A dietary pattern of MRND and <i>VEGFR2</i> gene polymorphisms were both associated with increased health risks of lifestyle-related chronic diseases particularly blood glucose and lipid levels in Chinese Malaysian adults.
DOI: 10.6084/m9.figshare.5123065.v1
title: Supplementary Material for: Positional Vomiting as the Initial Manifestation of Bruns Syndrome due to Cysticercosis in the Fourth Ventricle: A Symptom Reminiscent of an Old Disease

description: Medicine
DOI: 10.6084/m9.figshare.5123047
title: Supplementary Material for: Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

description: Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The genetic cause of this developmental disorder is presently unknown. Here we describe 8 new patients with a phenotype of HSS. Individuals with HSS present with clinical features overlapping with some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia (MAD). HGPS is caused by de novo point mutations in the <i>LMNA</i> gene, coding for the nuclear lamina proteins lamin A and C. MAD with type A and B lipodystrophy are recessive disorders resulting from mutations in <i>LMNA</i> and <i>ZMPSTE24</i>, respectively. <i>ZMPSTE24</i> in addition to <i>ICMT </i>encode proteins involved in posttranslational processing of lamin A. We hypothesized that HSS is an allelic disorder to HGPS and MAD. As the nuclear shape is often irregular in patients with <i>LMNA</i> mutations, we first analyzed the nuclear morphology in skin fibroblasts of patients with HSS, but could not identify any abnormality. Sequencing of the genes <i>LMNA, ZMPSTE24</i> and<i> ICMT</i> in the 8 patients with HSS revealed the heterozygous missense mutation c.1930C&gt;T (p.R644C) in <i>LMNA</i> in 1 female. Extreme phenotypic diversity and low penetrance have been associated with the p.R644C mutation. In <i>ZMPSTE24</i> and <i>ICMT</i>, no pathogenic sequence change was detected in patients with HSS. Together, we found no evidence that HSS is another laminopathy.
DOI: 10.6084/m9.figshare.5123050
title: Supplementary Material for: Accuracy and Precision of Desktop Spirometers in General Practices

description: <i>Background:</i> Spirometry has become an essential tool for general practices to diagnose and monitor chronic airways diseases, but very little is known about the performance of the spirometry equipment that is being used in general practice settings. The use of invalid spirometry equipment may have consequences on disease diagnosis and management of patients. <i>Objectives:</i> To establish the accuracy and precision of desktop spirometers that are routinely used in general practices. <i>Methods:</i> We evaluated a random sample of 50 spirometers from Dutch general practices by testing them on a certified waveform generator using 8 standard American Thoracic Society waveforms to determine accuracy and precision. Details about the brand and type of spirometers, year of purchase, frequency of use, cleaning and calibration were inquired with a study-specific questionnaire. <i>Results:</i> 39 devices (80%) were turbine spirometers, 8 (16%) were pneumotachographs, and 1 (2%) was a volume displacement spirometer. Mean age of the spirometers was 4.3 (SD 3.7) years. Average deviation from the waveform generator reference values (accuracy) was 25 ml (95% confidence interval 12–39 ml) for FEV<sub>1</sub> and 27 ml (10–45 ml) for FVC, but some devices showed substantial deviations. FEV<sub>1</sub> deviations were larger for pneumotachographs than for turbine spirometers (p &lt; 0.0031), but FVC deviations did not differ between the two types of spirometers. In the subset of turbine spirometers, no association between age and device performance was observed. <i>Conclusions:</i> On average, desktop spirometers in general practices slightly overestimated FEV<sub>1</sub> and FVC values, but some devices showed substantial deviations. General practices should pay more attention to the calibration of their spirometer.
DOI: 10.6084/m9.figshare.5123044
title: Supplementary Material for: The Burden Associated with Ocular Symptoms in Allergic Rhinitis

description: <i>Background:</i> Ocular symptoms remain widely neglected while they concern the majority of subjects with allergic rhinitis (AR) and impair their daily activities. We describe the characteristics of ocular symptoms in subjects suffering from AR in the French INSTANT study and their impact on daily activities. <i>Methods:</i> This cross-sectional observational survey was carried out in November 2006 using face-to-face interviews. <i>Results: </i>31.7% of the population-based sample (n = 4,019) suffered from AR and 52.0% of AR subjects (n = 663) described ocular symptoms. Men had significantly less ocular symptoms than women (odds ratio 0.71, 95% CI 0.57–0.89). 57.5% of subjects suffered from ocular symptoms for &gt;5 years, 30.2% for &gt;6 months in the past 12 months, and 92.2% during the pollen season. The troublesome ocular symptoms were itching eyes (51.1%), watery eyes (38.6%), red eyes (6.6%) and swollen eyelids (3.6%). The trigger factors were pollens (51.3%), household dust and mites (34.8%), pets (12.2%) and air pollution (3.8%). Ocular symptoms had a negative impact on daily activities (blurred sight 47.8%, reduction in daily activities 38.8%, reduction in efficacy at work 25.8%, sleep disturbances 16.3%, and sick leave 12.9%). They were diagnosed in 38.9% of subjects and followed up in 34.8%. Treatment for ocular symptoms was prescribed to 35.4% of subjects and to 61.9% of subjects with a regular follow-up care. <i>Conclusions:</i> This survey confirms the impact of ocular symptoms on AR patients’ lives and suggests that they are still neglected and undertreated.
DOI: 10.6084/m9.figshare.5123053.v1
title: Supplementary Material for: Coamplification of Multiple Regions of Chromosome 2, Including MYCN, in a Single Patchwork Amplicon in Cancer Cell Lines

description: Coamplification of multiple segments of chromosome 2, including an <i>MYCN</i>-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32, respectively. FISH analysis demonstrated that these segments were co-localized in double minutes in NCI-H69 and in homogeneously staining regions in IMR-32. Connectivity of the segments was determined by a PCR assay using designed primer sets. It was found that all the segments were connected to each other irrespective of their order and orientation against the genome sequence, and a single chain-like cluster was configured in both cell lines. Such patchwork structures of the amplicons suggest the possibility that massive genomic rearrangements, explained by the single catastrophic event model, are involved in the formation of the amplicons, enabling the coamplification of different chromosomal regions including the <i>MYCN</i> locus. The model comprises massive fragmentation of chromosomes and random rejoining of the fragments.
DOI: 10.6084/m9.figshare.5123038
title: Supplementary Material for: Long-Segment Type 1 Split Cord Malformation with Two-Level Split Cord Malformation and a Single Dural Sac at the Lower Split

description: <i>Objective and Importance:</i> Two-level bony spurs are rare and also a very long segment of bony spur is very rare. Bony spur with a single dural covering is not reported in the literature. Here, we report a case of prophylactic surgery performed on a patient with a bony spur with a single dural covering who showed a good postoperative outcome. This case highlights the importance of prophylactic surgery in such patients to avoid cord injuries. <i>Clinical Presentation:</i> Since birth a 1-year-old child had had a tuft of hair at the dorsal (D<sub>6</sub> and D<sub>7</sub>) region. The patient was examined and found to have scoliosis with convexity towards the right. There was no neurological deficit. MRI and CT spine scans showed 2-level type 1 split cord malformation (SCM) and there was a low-lying conus at the L<sub>3–4</sub> level. <i>Intervention:</i> The patient was operated on at the age of 1 year and 2 separate bony septae were observed. The upper one extended from D<sub>5</sub> to D<sub>9</sub> and the lower one was at the D<sub>11</sub> level. The bony spurs were excised. The filum was sectioned at the L<sub>4–5</sub> level by a separate incision. The patient had a good postoperative recovery. <i>Conclusion:</i> With meticulous planning and careful surgery, prophylactic surgery can have a very good outcome in long-segment and two-level type 1 SCM.
DOI: 10.6084/m9.figshare.5123047.v1
title: Supplementary Material for: Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

description: Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The genetic cause of this developmental disorder is presently unknown. Here we describe 8 new patients with a phenotype of HSS. Individuals with HSS present with clinical features overlapping with some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia (MAD). HGPS is caused by de novo point mutations in the <i>LMNA</i> gene, coding for the nuclear lamina proteins lamin A and C. MAD with type A and B lipodystrophy are recessive disorders resulting from mutations in <i>LMNA</i> and <i>ZMPSTE24</i>, respectively. <i>ZMPSTE24</i> in addition to <i>ICMT </i>encode proteins involved in posttranslational processing of lamin A. We hypothesized that HSS is an allelic disorder to HGPS and MAD. As the nuclear shape is often irregular in patients with <i>LMNA</i> mutations, we first analyzed the nuclear morphology in skin fibroblasts of patients with HSS, but could not identify any abnormality. Sequencing of the genes <i>LMNA, ZMPSTE24</i> and<i> ICMT</i> in the 8 patients with HSS revealed the heterozygous missense mutation c.1930C&gt;T (p.R644C) in <i>LMNA</i> in 1 female. Extreme phenotypic diversity and low penetrance have been associated with the p.R644C mutation. In <i>ZMPSTE24</i> and <i>ICMT</i>, no pathogenic sequence change was detected in patients with HSS. Together, we found no evidence that HSS is another laminopathy.