cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5127301
title: Supplementary Material for: Bronchopulmonary Dysplasia Is Associated with Delayed Structural Brain Maturation in Preterm Infants

description: <b><i>Background:</i></b> In recent years, cerebral magnetic resonance imaging (MRI) has been increasingly used to depict the wide spectrum of preterm brain injury. Furthermore, it has already been demonstrated by MRI at term-equivalent age (TEA) that preterm infants show delayed brain maturation as compared to term infants, and this delay has been related to neurobehavioral outcome. <b><i>Objectives:</i></b> The aim of the current study was to investigate the influence of prevalent neonatal risk factors for adverse outcome on structural brain maturation in very preterm infants at TEA. <b><i>Methods:</i></b> One hundred and thirty very preterm infants born at a mean gestational age of 29.7 weeks were included. MRI was performed at TEA and given a validated ‘total maturation score'. Brain maturation scores were compared with neonatal data. <b><i>Results:</i></b> In univariate analysis, bronchopulmonary dysplasia (BPD), late-onset sepsis and retinopathy of prematurity were significantly associated with delayed brain maturation. Furthermore, infants with delayed maturation had been ventilated significantly longer and more often suffered from severe arterial hypotension. In multivariate analysis, BPD remained significant as predictor of delayed brain maturation. <b><i>Conclusions:</i></b> This study is the first to show that delayed structural brain maturation as evaluated by MRI at TEA is preceded by BPD, which is known to be a predictor of adverse outcome in preterm infants. This finding adds further evidence to show that adverse outcome in preterm infants may have additional neural correlates that exceed common brain injury.
DOI: 10.6084/m9.figshare.5127313.v1
title: Supplementary Material for: Ultrasonographic versus Fluoroscopic Access for Percutaneous Nephrolithotomy: A Meta-Analysis

description: <b><i>Objective:</i></b> To assess the safety and efficacy of ultrasonographic vs. fluoroscopic access for percutaneous nephrolithotomy (PCNL). <b><i>Methods:</i></b> Medline (PubMed), Embase, Ovid, Cochrane, and the Chinese Biomedical Literature databases were searched to identify clinically controlled trials (CCTs) and randomized controlled trials (RCTs) that compared ultrasonographic access with fluoroscopic access for PCNL. RevMan 5.1 software and Stat Manager V4.1 software were used for the meta-analysis. <b><i>Results:</i></b> Five RCTs and nine CCTs were included in our study, which contained a total of 3,019 patients. Of these, 1,574 (52%) had undergone ultrasonographic access, and 1,445 (48%) had undergone fluoroscopic access. The pooled results revealed that the ultrasonographic access patients had shorter duration of access (min) by 2.56 min (weighted mean difference (WMD) = −2.56, 95% confidence interval (CI): −4.40 to −0.72, p = 0.006). There was a higher stone-free rate in the ultrasonographic access group (odds ratio (OR) = 1.26, 95% CI: 1.02-1.55, p = 0.03), as well as a lower rate of operative complications (OR = 0.72, 95% CI: 0.56-0.93, p = 0.01), reduced intraoperative blood loss (ml) (WMD = −14.55 ml, 95% CI: −27.65 to −1.46, p = 0.03), and a lower rate of blood transfusion requirement (OR = 0.39, 95% CI: 0.24-0.63, p = 0.0001). Sensitivity and subgroup analyses were also performed. <b><i>Conclusion:</i></b> Except for no radiation exposure, our meta-analysis revealed that ultrasonographic access had many advantages, such as a shorter access time, reduced intraoperative blood loss, a lower rate of operative complications, a lower rate of blood transfusion, and a higher stone-free rate. Because of these significant advantages, we recommend the use of ultrasonographic access for PCNL.
DOI: 10.6084/m9.figshare.5127295
title: Supplementary Material for: Novel Deletion of <b><i>SERPINF1</i></b> Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

description: Autosomal recessive<b> </b>osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes <i>(CRTAP</i>, <i>LEPRE1</i>, <i>PPIB</i>, <i>SERPINH1</i>, <i>FKBP10</i>, <i>SERPINF1, SP7</i>, <i>BMP1, TMEM38B, </i>and<i> WNT1)</i> are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by <i>SERPINF1</i>, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous <i>SERPINF1</i> 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous <i>SERPINF1</i> 19-bp deletion and suggest a founder effect. Furthermore, the <i>SERPINF1</i> genotypes/phenotypes reported so far in the literature are reviewed.
DOI: 10.6084/m9.figshare.5127298
title: Supplementary Material for: Retrospective Analysis of 255 Papillary Thyroid Carcinomas ≤2 cm: Clinicohistological Features and Prognostic Factors

description: <b><i>Background:</i></b> Papillary thyroid carcinoma (PTC) is the most common thyroid cancer. The widespread use of neck ultrasound (US) and US-guided fine-needle aspiration cytology is triggering an overdiagnosis of PTC. <b><i>Objective: </i></b>To evaluate clinical behavior and outcomes of patients with PTCs ≤2 cm, seeking for possible prognostic factors. <b><i>Methods:</i></b> Clinical records of cases with histological diagnosis of PTC ≤2 cm followed at the Endocrine Department of Instituto Português de Oncologia, Lisbon between 2002 and 2006 were analyzed retrospectively. <b><i>Results:</i></b> We identified 255 PTCs, 111 were microcarcinomas. Most patients underwent near-total thyroidectomy, with lymph node dissections in 55 cases (21.6%). Radioiodine therapy was administered in 184 patients. At the last evaluation, 38 (14.9%) had evidence of disease. Two deaths were attributed to PTC. Median (±SD) follow-up was 74 (±23) months. Multivariate analysis identified vascular invasion, lymph node and systemic metastases significantly associated with recurrence/persistence of disease. In addition, lymph node involvement was significantly associated with extrathyroidal extension and angioinvasion. Median (±SD) disease-free survival (DFS) was estimated as 106 (±3) months and the 5-year DFS rate was 87.5%. Univariate Cox analysis identified some relevant parameters for DFS, but multivariate regression only identified lymph node and systemic metastases as significant independent factors. The median DFS estimated for lymph node and systemic metastases was 75 and 0 months, respectively. <b><i>Conclusions:</i></b> In the setting of small PTCs, vascular invasion, extrathyroidal extension and lymph node and/or systemic metastases may confer worse prognosis, perhaps justifying more aggressive therapeutic and follow-up approaches in such cases.
DOI: 10.6084/m9.figshare.5127292
title: Supplementary Material for: <b><i>TP53</i></b> Y220C Is a Hotspot Mutation in Oropharyngeal Squamous Cell Carcinoma

description: <b><i>Objectives:</i></b> Although <i>TP53</i> mutations in head and neck squamous cell carcinoma (HNSCC) have been extensively studied, their association with the different subsites in the head and neck region has never been described. <b><i>Methods:</i></b> Sanger sequence analysis evaluating exons 4-9 in the <i>TP53 </i>gene was performed on 116 HNSCC patients. The exon location, exact codon and corresponding substitution in relation to the anatomical site (subsite) of the HNSCC were evaluated. <b><i>Results:</i></b> We found nonsynonymous <i>TP53</i> mutations in 70% (81/116) of the patients. In oral cavity carcinomas, most mutations occurred in exon 7 (37%). In oropharyngeal and laryngeal tumors, mutations were mainly found in exons 6 and 7. The most common mutation was located in codon 220, and all of these were an Y220C mutation. Five out of nine (56%) Y220C mutations occurred in oropharyngeal tumors. Additionally, 22% of all mutations observed in oropharyngeal squamous cell carcinoma (OPSCC) consisted of Y220C mutations. <b><i>Conclusion:</i></b> In this study, the subsite-related distribution of <i>TP53</i> mutations underlines the biological diversity between tumors arising from different anatomical regions in the head and neck region. Moreover, the Y220C mutation was by far the most prevalent <i>TP53</i> mutation in HNSCC and a relative hotspot mutation in the oropharynx.
DOI: 10.6084/m9.figshare.5127280
title: Supplementary Material for: Dab2IP Regulates Neuronal Positioning, Rap1 Activity and Integrin Signaling in the Developing Cortex

description: Dab2IP (DOC-2/DAB2 interacting protein) is a GTPase-activating protein which is involved in various aspects of brain development in addition to its roles in tumor formation and apoptosis in other systems. In this study, we carefully examined the expression profile of Dab2IP and investigated its physiological role during brain development using a Dab2IP-knockdown (KD) mouse model created by retroviral insertion of a LacZ-encoding gene-trapping cassette. LacZ staining revealed that Dab2IP is expressed in the ventricular zone as well as the cortical plate and the intermediate zone. Immunohistochemical analysis showed that Dab2IP protein is localized in the leading process and proximal cytoplasmic regions of migrating neurons in the intermediate zone. Bromodeoxyuridine birth dating experiments in combination with immunohistochemical analysis using layer-specific markers showed that Dab2IP is important for proper positioning of a subset of layer II-IV neurons in the developing cortex. Notably, neuronal migration was not completely disrupted in the cerebral cortex of Dab2IP-KD mice and disruption of migration was not strictly layer specific. Previously, we found that Dab2IP regulates multipolar transition in cortical neurons. Others have shown that Rap1 regulates the transition from multipolar to bipolar morphology in migrating postmitotic neurons through N-cadherin signaling and somal translocation in the superficial layer of the cortical plate through integrin signaling. Therefore, we examined whether Rap1 and integrin signaling were affected in Dab2IP-KD brains. We found that Dab2IP-KD resulted in higher levels of activated Rap1 and integrin in the developing cortex. Taken together, our results suggest that Dab2IP plays an important role in the migration and positioning of a subpopulation of later-born (layers II-IV) neurons, likely through the regulation of Rap1 and integrin signaling.
DOI: 10.6084/m9.figshare.5127283
title: Supplementary Material for: Evidence of an Association between Age-Related Functional Modifications and Pathophysiological Changes in Zebrafish Heart

description: <b><i>Background:</i></b> Zebrafish have become a valuable model for the study of developmental biology and human disease, such as cardiovascular disease. It is difficult to discriminate between disease-related and age-related alterations. <b><i>Objective:</i></b> This study was aimed to investigate the effects and potential mechanisms of age-related cardiac modifications in an older zebrafish population. <b><i>Methods:</i></b> In this study, we calculated the survival rate and measured the spinal curvature through the aging process. A swimming challenge test was performed and showed that swimming capacity and endurance dramatically dropped in older fish groups. <b><i>Results:</i></b> To find out the effect of stress on zebrafish during the aging process, we recorded electrocardiograms on zebrafish and showed that during stress, aging not only led to a significant reduction in heart rate, but also caused other age-related impairments, such as arrhythmias and ST-T depression. Echocardiography showed a marked increase in end-diastolic ventricular dimensions and in isovolumic relaxation time and a notably slower mean and peak velocity of the bulboventricular valve in older zebrafish, but stroke volume and cardiac output were not different in young and old zebrafish. Both <i>nppa</i> and <i>nppb</i> (cardiac fetal genes for natriuretic factor) expression detected by real-time polymerase chain reaction analysis increased in older fish compared to the younger group. Histological staining revealed fibrosis within cardiomyocytes and an increase in ventricular myocardial density and a decrease in epicardial vessel dimensions in older fish hearts that may correlate with a deterioration of cardiac function and exercise capacity. <b><i>Conclusion:</i></b> These data suggest that cardiac functional modifications in zebrafish are comparable to those in humans and may partly be due to changes in the cardiovascular system including cardiac fetal gene reprogramming, myocardial density, and epicardial vessel dimensions.
DOI: 10.6084/m9.figshare.5127289
title: Supplementary Material for: Wearable Sensor-Based In-Home Assessment of Gait, Balance, and Physical Activity for Discrimination of Frailty Status: Baseline Results of the Arizona Frailty Cohort Study

description: <b><i>Background:</i></b> Frailty is a geriatric syndrome resulting from age-related cumulative decline across multiple physiologic systems, impaired homeostatic reserve, and reduced capacity to resist stress. Based on recent estimates, 10% of community-dwelling older individuals are frail and another 41.6% are prefrail. Frail elders account for the highest health care costs in industrialized nations. Impaired physical function is a major indicator of frailty, and functional performance tests are useful for the identification of frailty. Objective instrumented assessments of physical functioning that are feasible for home frailty screening have not been adequately developed. <b><i>Objective:</i></b> To examine the ability of wearable sensor-based in-home assessment of gait, balance, and physical activity (PA) to discriminate between frailty levels (nonfrail, prefrail, and frail). <b><i>Methods:</i></b> In an observational cross-sectional study, in-home visits were completed in 125 older adults (nonfrail: n = 44, prefrail: n = 60, frail: n = 21) living in Tucson, Ariz., USA, between September 2012 and November 2013. Temporal-spatial gait parameters (speed, stride length, stride time, double support, and variability of stride velocity), postural balance (sway of hip, ankle, and center of mass), and PA (percentage of walking, standing, sitting, and lying; mean duration and variability of single walking, standing, sitting, and lying bouts) were measured in the participant's home using validated wearable sensor technology. Logistic regression was used to assess the most sensitive gait, balance, and PA variables for identifying prefrail participants (vs. nonfrail). Multinomial logistic regression was used to identify variables sensitive to discriminate between three frailty levels. <b><i>Results:</i></b> Gait speed (area under the curve, AUC = 0.802), hip sway (AUC = 0.734), and steps/day (AUC = 0.736) were the most sensitive parameters for the identification of prefrailty. Multinomial regression revealed that stride length (AUC = 0.857) and double support (AUC = 0.841) were the most sensitive gait parameters for discriminating between three frailty levels. Interestingly, walking bout duration variability was the most sensitive PA parameter for discriminating between three frailty levels (AUC = 0.818). No balance parameter discriminated between three frailty levels. <b><i>Conclusion:</i></b> Our results indicate that unique parameters derived from objective assessment of gait, balance, and PA are sensitive for the identification of prefrailty and the classification of a subject's frailty level. The present findings highlight the potential of wearable sensor technology for in-home assessment of frailty status.
DOI: 10.6084/m9.figshare.5127277
title: Supplementary Material for: Endostatin Level is Associated with Kidney Injury in the Elderly: Findings from Two Community-Based Cohorts

description: <b><i>Background:</i></b> We aimed to investigate the associations between circulating endostatin and the different aspects of renal dysfunction, namely, estimated (cystatin C) glomerular filtration rate (GFR) and urine albumin-creatinine ratio (ACR). <b><i>Methods:</i></b> Two independent longitudinal community-based cohorts of elderly. ULSAM, n = 786 men; age 78 years; median GFR 74 ml/min/1.73 m<sup>2</sup>; median ACR 0.80 mg/mmol); and PIVUS, n = 815; age 75 years; 51% women; median GFR; 67 ml/min/1.73 m<sup>2</sup>; median ACR 1.39 mg/mmol. Cross-sectional associations between the endostatin levels and GFR as well as ACR, and longitudinal association between endostatin at baseline and incident CKD (defined as GFR &lt;60 ml/min/1.73 m<sup>2</sup>) were assessed. <b><i>Results:</i></b> In cross-sectional regression analyses adjusting for age, gender, inflammation, and cardiovascular risk factors, serum endostatin was negatively associated with GFR (ULSAM: B-coefficient per SD increase -0.51, 95% CI (-0.57, -0.45), p &lt; 0.001; PIVUS -0.47, 95% CI (-0.54, -0.41), p &lt; 0.001) and positively associated with ACR (ULSAM: B-coefficient per SD increase 0.24, 95% CI (0.15, 0.32), p &lt; 0.001; PIVUS 0.13, 95% CI (0.06-0.20), p &lt; 0.001) in both cohorts. Moreover, in longitudinal multivariable analyses, higher endostatin levels were associated with increased risk for incident CKD defined as GFR &lt;60 ml/min/1.73 m<sup>2</sup> at re-investigations in both ULSAM (odds ratio per SD increase of endostatin 1.39 (95% CI 1.01-1.90) and PIVUS 1.68 (95% CI 1.36-2.07)). <b><i>Conclusions:</i></b> Higher circulating<b> </b>endostatin is associated with lower GFR and higher albuminuria and independently predicts incident CKD in elderly subjects. Further studies are warranted to investigate the underlying mechanisms linking endostatin to kidney pathology, and to evaluate the clinical relevance of our findings. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127289.v1
title: Supplementary Material for: Wearable Sensor-Based In-Home Assessment of Gait, Balance, and Physical Activity for Discrimination of Frailty Status: Baseline Results of the Arizona Frailty Cohort Study

description: <b><i>Background:</i></b> Frailty is a geriatric syndrome resulting from age-related cumulative decline across multiple physiologic systems, impaired homeostatic reserve, and reduced capacity to resist stress. Based on recent estimates, 10% of community-dwelling older individuals are frail and another 41.6% are prefrail. Frail elders account for the highest health care costs in industrialized nations. Impaired physical function is a major indicator of frailty, and functional performance tests are useful for the identification of frailty. Objective instrumented assessments of physical functioning that are feasible for home frailty screening have not been adequately developed. <b><i>Objective:</i></b> To examine the ability of wearable sensor-based in-home assessment of gait, balance, and physical activity (PA) to discriminate between frailty levels (nonfrail, prefrail, and frail). <b><i>Methods:</i></b> In an observational cross-sectional study, in-home visits were completed in 125 older adults (nonfrail: n = 44, prefrail: n = 60, frail: n = 21) living in Tucson, Ariz., USA, between September 2012 and November 2013. Temporal-spatial gait parameters (speed, stride length, stride time, double support, and variability of stride velocity), postural balance (sway of hip, ankle, and center of mass), and PA (percentage of walking, standing, sitting, and lying; mean duration and variability of single walking, standing, sitting, and lying bouts) were measured in the participant's home using validated wearable sensor technology. Logistic regression was used to assess the most sensitive gait, balance, and PA variables for identifying prefrail participants (vs. nonfrail). Multinomial logistic regression was used to identify variables sensitive to discriminate between three frailty levels. <b><i>Results:</i></b> Gait speed (area under the curve, AUC = 0.802), hip sway (AUC = 0.734), and steps/day (AUC = 0.736) were the most sensitive parameters for the identification of prefrailty. Multinomial regression revealed that stride length (AUC = 0.857) and double support (AUC = 0.841) were the most sensitive gait parameters for discriminating between three frailty levels. Interestingly, walking bout duration variability was the most sensitive PA parameter for discriminating between three frailty levels (AUC = 0.818). No balance parameter discriminated between three frailty levels. <b><i>Conclusion:</i></b> Our results indicate that unique parameters derived from objective assessment of gait, balance, and PA are sensitive for the identification of prefrailty and the classification of a subject's frailty level. The present findings highlight the potential of wearable sensor technology for in-home assessment of frailty status.
DOI: 10.6084/m9.figshare.5127274
title: Supplementary Material for: β-Adrenoceptor-Mediated Relaxation of Carbachol-Pre-Contracted Mouse Detrusor

description: <b><i>Aims:</i></b> To study the β-adrenoceptor subtypes involved in the relaxation responses to (-)-isoprenaline in carbachol-pre-contracted (CCh) mouse detrusor muscle with intact and denuded mucosa. <b><i>Methods:</i></b> Isolated muscle strips from the urinary bladder of male C57BL6 mice or β<sub>2</sub>-adrenoceptor knockout mice were pre-contracted with CCh, 1 µM and relaxed with increasing concentrations of the β-adrenoceptor (β-AR) agonist (-)-isoprenaline and forskolin. For estimating the β-AR subtypes involved, subtype-selective receptor blockers were used, that is, CGP 20712A (β<sub>1</sub>-ARs), ICI 118,551 (β<sub>2</sub>-ARs), and L748,337 (β<sub>3</sub>-ARs). <b><i>Results:</i></b> Unlike in KCl-pre-contracted muscle, the mucosa did not affect the sensitivity of the relaxation response to (-)-isoprenaline in CCh-pre-contracted murine detrusor strips. Increasing concentrations of (-)-isoprenaline produced a biphasic concentration-relaxation response without any difference both during the presence and absence of mucosa. The relaxation fraction produced by low (-)-isoprenaline concentrations was mediated by β<sub>2</sub>-AR as evidenced by a shift of the concentration-response curve to higher concentrations with ICI 118,551, but not with CGP 20712A and L748,337, and by the absence of this fraction in β<sub>2</sub>-AR-KO mice. The relaxation response with low sensitivity to (-)-isoprenaline was not affected by any of the β-AR subtype-selective blockers and was the only response detected in detrusor strips from β<sub>2</sub>-AR-KO mice. <b><i>Conclusions: </i></b>In CCh-pre-contracted mouse detrusor, β<sub>2</sub>-ARs are responsible for the relaxation component with high sensitivity to (-)-isoprenaline as indicated by the conversion of a biphasic into a monophasic CRC with ICI 118,551 or by its absence in β<sub>2</sub>-AR KO mice. The mucosa does not impair relaxation under these conditions.
DOI: 10.6084/m9.figshare.5127265
title: Supplementary Material for: A Patient-Invented Maneuver to Alleviate Freezing of Gait Using a Foot Loop Band

description: Freezing of gait (FOG) is a disabling gait disorder in parkinsonian patients characterized by the inability to initiate or continue locomotion. I herein present a 65-year-old man with Parkinson's disease who invented a unique method (foot loop band) to alleviate FOG, which has not been previously described in the literature. The mechanisms to alleviate FOG include not only facilitating mechanical weight shift, but also restoring internal cueing and driving motor commands for gait initiation. This patient-invented maneuver may be recommended for patients having intractable FOG, because it is portable, cheap and safe.