cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5128912
title: Supplementary Material for: Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

description: We present 2 cases with multiple de novo supernumerary marker chromosomes (sSMCs), each derived from a different chromosome. In a prenatal case, we found mosaicism for an sSMC(4), sSMC(6), sSMC(9), sSMC(14) and sSMC(22), while a postnatal case had an sSMC(4), sSMC(8) and an sSMC(11). SNP-marker segregation indicated that the sSMC(4) resulted from a maternal meiosis II error in the prenatal case. Segregation of short tandem repeat markers on the sSMC(8) was consistent with a maternal meiosis I error in the postnatal case. In the latter, a boy with developmental/psychomotor delay, autism, hyperactivity, speech delay, and hypotonia, the sSMC(8) was present at the highest frequency in blood. By comparison to other patients with a corresponding duplication, a minimal region of overlap for the phenotype was identified, with <i>CHRNB3</i> and <i>CHRNA6</i> as dosage-sensitive candidate genes. These genes encode subunits of nicotinic acetylcholine receptors (nAChRs). We propose that overproduction of these subunits leads to perturbed component stoichiometries with dominant negative effects on the function of nAChRs, as was shown by others in vitro. With the limitation that in each case only one sSMC could be studied, our findings demonstrate that different meiotic errors lead to multiple sSMCs. We relate our findings to age-related aneuploidy in female meiosis and propose that predivision sister-chromatid separation during meiosis I or II, or both, may generate multiple sSMCs.
DOI: 10.6084/m9.figshare.5128912.v1
title: Supplementary Material for: Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

description: We present 2 cases with multiple de novo supernumerary marker chromosomes (sSMCs), each derived from a different chromosome. In a prenatal case, we found mosaicism for an sSMC(4), sSMC(6), sSMC(9), sSMC(14) and sSMC(22), while a postnatal case had an sSMC(4), sSMC(8) and an sSMC(11). SNP-marker segregation indicated that the sSMC(4) resulted from a maternal meiosis II error in the prenatal case. Segregation of short tandem repeat markers on the sSMC(8) was consistent with a maternal meiosis I error in the postnatal case. In the latter, a boy with developmental/psychomotor delay, autism, hyperactivity, speech delay, and hypotonia, the sSMC(8) was present at the highest frequency in blood. By comparison to other patients with a corresponding duplication, a minimal region of overlap for the phenotype was identified, with <i>CHRNB3</i> and <i>CHRNA6</i> as dosage-sensitive candidate genes. These genes encode subunits of nicotinic acetylcholine receptors (nAChRs). We propose that overproduction of these subunits leads to perturbed component stoichiometries with dominant negative effects on the function of nAChRs, as was shown by others in vitro. With the limitation that in each case only one sSMC could be studied, our findings demonstrate that different meiotic errors lead to multiple sSMCs. We relate our findings to age-related aneuploidy in female meiosis and propose that predivision sister-chromatid separation during meiosis I or II, or both, may generate multiple sSMCs.
DOI: 10.6084/m9.figshare.5128915
title: Supplementary Material for: Triple Negative Breast Cancer versus Non-Triple Negative Breast Cancer Treated with Breast Conservation Surgery Followed by Radiotherapy: A Systematic Review and Meta-Analysis

description: <b><i>Background:</i></b> The aim of this study was to compare the efficacy of breast conservation surgery (BCS) followed by radiotherapy (RT) in triple negative breast cancer (TNBC) versus non-TNBC. <b><i>Methods:</i></b> We searched the MEDLINE and EMBASE databases from inception through March 31, 2014, using search terms related to TNBC, BCS, and RT. Studies comparing the efficacy of BCS followed by RT in TNBC versus non-TNBC were reviewed. <b><i>Results:</i></b> 5 studies including 2,922 non-TNBC and 510 TNBC cases were selected. The overall quality of included studies was deemed moderate to high. Compared with non-TNBC, the pooled relative risk of 5-year local relapse-free survival was 1.315 (95% confidence interval (CI) 0.967-1.789; p = 0.008) for TNBC, and that of 5-year overall survival, regional relapse-free survival, and distant metastasis-free survival was 1.929 (95% CI 1.392-2.674; p = 0.000), 3.052 (95% CI 1.629-5.715; p = 0.000), and 2.407 (95% CI 1.910-3.034; p = 0.000), respectively. <b><i>Conclusion:</i></b> The local control rate of TNBC treated with BCS plus RT is similar to that of non-TNBC.
DOI: 10.6084/m9.figshare.5128924.v1
title: Supplementary Material for: Expression and Purification of Recombinant Human Basic Fibroblast Growth Factor Fusion Proteins and Their Uses in Human Stem Cell Culture

description: To reduce the cost of cytokines and growth factors in stem cell research, a simple method for the production of soluble and biological active human basic fibroblast growth factor (hbFGF) fusion protein in <i>Escherichia coli</i> was established. Under optimal conditions, approximately 60-80 mg of &gt;95% pure hbFGF fusion proteins (Trx-6xHis-hbFGF and 6xHis-hbFGF) were obtained from 1 liter of culture broth. The purified hbFGF proteins, both with and without the fusion tags, were biologically active, which was confirmed by their ability to stimulate proliferation of NIH3T3 cells. The fusion proteins also have the ability to support several culture passages of undifferentiated human embryonic stem cells and induce pluripotent stem cells. This paper describes a low-cost and uncomplicated method for the production and purification of biologically active hbFGF fusion proteins.
DOI: 10.6084/m9.figshare.5128915.v1
title: Supplementary Material for: Triple Negative Breast Cancer versus Non-Triple Negative Breast Cancer Treated with Breast Conservation Surgery Followed by Radiotherapy: A Systematic Review and Meta-Analysis

description: <b><i>Background:</i></b> The aim of this study was to compare the efficacy of breast conservation surgery (BCS) followed by radiotherapy (RT) in triple negative breast cancer (TNBC) versus non-TNBC. <b><i>Methods:</i></b> We searched the MEDLINE and EMBASE databases from inception through March 31, 2014, using search terms related to TNBC, BCS, and RT. Studies comparing the efficacy of BCS followed by RT in TNBC versus non-TNBC were reviewed. <b><i>Results:</i></b> 5 studies including 2,922 non-TNBC and 510 TNBC cases were selected. The overall quality of included studies was deemed moderate to high. Compared with non-TNBC, the pooled relative risk of 5-year local relapse-free survival was 1.315 (95% confidence interval (CI) 0.967-1.789; p = 0.008) for TNBC, and that of 5-year overall survival, regional relapse-free survival, and distant metastasis-free survival was 1.929 (95% CI 1.392-2.674; p = 0.000), 3.052 (95% CI 1.629-5.715; p = 0.000), and 2.407 (95% CI 1.910-3.034; p = 0.000), respectively. <b><i>Conclusion:</i></b> The local control rate of TNBC treated with BCS plus RT is similar to that of non-TNBC.
DOI: 10.6084/m9.figshare.5128921.v1
title: Supplementary Material for: Adequacy of Using Consensus Guidelines for Diagnosis of Dementia with Lewy Bodies in Clinical Trials for Drug Development

description: <b><i>Background/Aims:</i></b> To evaluate the adequacy of using the consensus diagnostic criteria for dementia with Lewy bodies (DLB) to recruit patients with homogeneous characteristics in future clinical trials, where multiple departments of multinational centres are expected to participate with a long enrolment period, and additionally, to contribute to the possible future criteria revision. <b><i>Methods:</i></b> Using data from 2 trials of donepezil for DLB, conducted 3 years apart, characteristics in patients with probable DLB were analysed and compared between studies and between psychiatric and neurological centres. <b><i>Results:</i></b> In 273 patients (phase II: 135, phase III: 138; psychiatric: 73, neurological: 184), clinical characteristics overall were very similar between studies, and between specialty centres, excluding distinctive parkinsonism in the neurological versus psychiatric centres: incidence of parkinsonism (91.8 vs. 71.2%, p &lt; 0.001), Hoehn and Yahr stage (III: 55.0 vs. 21.2%, p &lt; 0.001), and concomitant anti-Parkinson medication (24.5 vs. 11.0%, p = 0.017). Rapid eye movement sleep behaviour disorder, depression, and delusion, suggestive or supportive features, were observed in 35-40%. Additionally, a high prevalence (55.3%) of anxiety was observed. <b><i>Conclusion:</i></b> Employing the consensus criteria is adequate to enrol homogeneous DLB patients into future clinical trials regardless of the specialty of centres and time. Further discussion could involve adding anxiety to future criteria.
DOI: 10.6084/m9.figshare.5128903
title: Supplementary Material for: Simultaneous Measurement of Breathing Kinematics and Surface Electromyography of Chest Wall Muscles during Maximum Performance and Speech Tasks in Children: Methodological Considerations

description: <b><i>Objective:</i></b> To develop a standardized paediatric protocol for acquiring simultaneous chest wall kinematics and surface electromyography (EMG) of chest wall muscles during maximum performance and speech tasks. <b><i>Patients and Methods:</i></b> Eighteen healthy participants included: (a) a younger age group (n = 6; ages 4.0-6.5 years), (b) an older age group (n = 6; ages 7.0-10.5 years), and (c) an adult group (n = 8; ages 21-33 years). A child (age 10 years) with spastic-type cerebral palsy (CP) served as a ‘proof of protocol feasibility'. Chest wall kinematics and surface EMGs (intercostals, rectus abdominus, external oblique, latissimus dorsi, and erector spinae) were acquired during maximum performance and speech tasks. <b><i>Results:</i></b> Successful calibration of the EMG signal and reliable detection of muscle activation onset, offset, and amplitude relative to vital capacity and percent maximum voluntary contraction in children were demonstrated. Kinematic and surface EMG measurements were sensitive to non-speech and speech tasks, age, and neurological status (i.e. CP). <b><i>Conclusion:</i></b> The simultaneous measurement of kinematics and EMG of the chest wall muscle groups provides a more comprehensive description of speech breathing in children. This protocol can be used for the observation and interpretation of clinical outcomes seen in children with motor speech disorders following treatments that focus on increasing overall respiratory and vocal effort.
DOI: 10.6084/m9.figshare.5128909
title: Supplementary Material for: miR-130b-3p Upregulation Contributes to the Development of Thyroid Adenomas Targeting <b><i>CCDC6</i></b> Gene

description: We have previously studied the function of microRNAs (miRNAs) in thyroid cells using the differentiated rat thyroid PC Cl 3 cells that need thyrotropin (TSH) for their growth. The miRNA expression profile examination allowed the detection of a set of miRNAs downregulated and upregulated by TSH. Here, we first demonstrated that upregulation of miR-130b-3p occurs through a protein kinase A-cAMP-responsive element binding protein (CREB)-dependent mechanism. Then, we analyzed its expression in human thyroid follicular adenomas, where a constitutive CREB activation is frequently present. miR-130b-3p results in upregulation with a high fold-change in most thyroid follicular adenomas. Then, we identified <i>CCDC6</i>, coding for a protein that interacts with CREB1 leading to the transcriptional repression of CREB1 target genes, as a target of this miRNA. The targeting of CCDC6 by miR-130b-3p likely accounts for the mechanism by which its upregulation contributes to the development of thyroid adenomas increasing CREB1 activity.
DOI: 10.6084/m9.figshare.5128900
title: Supplementary Material for: Self-Report Daily Life Activity as a Prognostic Marker of Idiopathic Pulmonary Fibrosis

description: <b><i>Background:</i></b> Idiopathic pulmonary fibrosis (IPF) is a progressive disease, leading to substantial physical impairment. The distance walked in 6 min (6MWD) is a measure of exercise tolerance and is of prognostic relevance in IPF. While 6MWD is a punctual measurement which may not be representative, self-reported daily life activity may represent the patients' functional capacity more globally even in less severe affected patients. <b><i>Objectives:</i></b> We evaluated and characterized a simple classification system based on the patients' self-reported daily activity and analyzed if this would add significantly to the prognostic information of the 6MWD alone in IPF patients. <b><i>Methods:</i></b> Daily life activity was assessed in IPF (n = 156) patients with standardized questions and categorized in activity classes (AC I-IV), comprising the less severe impaired in AC I and II. The 6MWD was also assessed. <b><i>Results:</i></b> ACs were related to the lung functional impairment and inversely correlated to the 6MWD. Thirty-two patients were in AC I/II, 98 in AC III and 26 patients in AC IV. Thirty-seven (23.7%) patients died during a median follow-up of 14.9 months, comprising 1 patient in AC I/II. In addition, a 6MWD &lt;470 m predicted mortality. Combining AC I/II and a 6MWD &gt;470 m identified a subgroup of patients with favorable outcome. <b><i>Conclusions:</i></b> AC is a novel scoring system which can easily be obtained and correlates with lung functional and physical impairments as well as mortality. Moreover, AC adds prognostic information to the 6MWD.
DOI: 10.6084/m9.figshare.5128906
title: Supplementary Material for: Efficiency of Attentional Components in Elderly with Mild Neurocognitive Disorders Shown by the Attention Network Test

description: <b><i>Aims:</i></b> Complex attention, serving as a main diagnostic item of mild neurocognitive disorders (NCD), has been reported to be susceptible to pathological ageing. This study aimed to evaluate the attention network functions in older adults with subtypes of NCD. <b><i>Methods:</i></b> 36 adults with NCD due to Alzheimer's disease (NCD-AD), 31 adults with NCD due to vascular disease (NCD-vascular) and 137 healthy controls were recruited. Attention Network Test (ANT) was conducted to assess the efficiency of alerting, orienting and executive control. <b><i>Results:</i></b> Significant between-group differences were found in executive control (conventional score: F = 11.472, p &lt; 0.001; ratio score: F = 8.430, p &lt; 0.001) and processing speed (F = 4.958, p = 0.008). NCD subgroups demonstrated poorer performance on the ANT, particularly on executive control (healthy 59.9 ± 45.9, NCD-vascular 88.9 ± 44.8, NCD-AD 97.0 ± 53.9). Moreover, the NCD-AD group showed both less efficient executive control and prominent slowing processing speed (reaction time: healthy 687.5 ± 106.0 ms, NCD-vascular 685.3 ± 97.1 ms, NCD-AD 750.6 ± 132.6 ms). <b><i>Conclusions:</i></b> The NCD-vascular group appeared to be less efficient in executive control, while the NCD-AD group demonstrated less effective executive control and also slower processing speed. These results suggest that the characterized performance of ANT, processing speed and executive control in particular, might help differentiate adults at risk of different forms of cognitive impairment.
DOI: 10.6084/m9.figshare.5128897
title: Supplementary Material for: Clinical Potential of Effective Noninvasive Exclusion of <b><i>KEL1</i></b>-Positive Fetuses in <b><i>KEL1</i></b>-Negative Pregnant Women

description: <b><i>Background:</i></b> The clinical importance of assessing the fetal <i>KEL</i> genotype is to exclude ‘K'-positive fetuses (genotype <i>KEL1/KEL2</i>) in ‘K'-alloimmunized pregnant women (genotype <i>KEL2/KEL2</i>). Noninvasive assessment of the fetal <i>KEL</i> genotype is not yet available in the Czech Republic. <b><i>Objective:</i></b> The aim of this study was to assess the fetal <i>KEL1/KEL2</i> genotype from cell-free fetal DNA in the plasma of <i>KEL2/KEL2</i> pregnant women. <b><i>Methods:</i></b> The fetal genotype was assessed by minisequencing (a dilution series including control samples). A total of 138 pregnant women (between the 8th and 23rd gestational week) were tested by minisequencing. The fetal genotype was further verified by analysis of a buccal swab from the newborn. <b><i>Results:</i></b> Minisequencing proved to be a reliable method. In 2.2% (3/138) of the examined women, plasma sample testing failed; 94.8% (128/135) had the <i>KEL2/KEL2</i> genotype, and a total of 3.1% of fetuses (4/128) had the <i>KEL1/KEL2</i> genotype. Sensitivity and specificity reached 100% (p &lt; 0.0001). <b><i>Conclusion:</i></b> Minisequencing is a reliable method for the assessment of the fetal <i>KEL1</i> allele from the plasma of <i>KEL2/KEL2</i> pregnant women.
DOI: 10.6084/m9.figshare.5128891
title: Supplementary Material for: Chronic Kidney Disease and Functional Outcomes 6 Months after Ischemic Stroke: A Prospective Multicenter Study

description: <b><i>Background:</i></b> The aim of this study was to investigate whether chronic kidney disease (CKD) predicts the outcome of the Functional Independence Measure (FIM) and the Korean version of the modified Barthel Index (K-MBI) 6 months after stroke with adjustment for age, gender, education, smoking, drinking, obesity, hypertension, diabetes mellitus, dyslipidemia, the FIM or K-MBI at discharge and the National Institutes of Health Stroke Scale (NIHSS) score 7 days post stroke. <b><i>Methods:</i></b> This study is an interim report of the Korean Stroke Cohort for Functioning and Rehabilitation. The sample included 2,037 ischemic stroke patients aged 18 years or older. The FIM and K-MBI scores were assessed at discharge and at 6 months after the onset of stroke. The estimated glomerular filtration rate (eGFR) was calculated using the Chronic Kidney Disease Epidemiology Collaboration equation. CKD was defined as an eGFR &lt;60 ml/min/1.73 m<sup>2</sup>. <b><i>Results:</i></b> Overall, the mean age was 65.5 (±12.4) years. The proportion of men was 62.6%. The proportion of CKD cases was 12.7%. The means of the 6-month FIM and K-MBI were 109.8 (±27.9) and 87.0 (±26.4), respectively. In multiple linear regressions, the 6-month FIM after stroke was significantly associated with CKD (-2.85, p &lt; 0.05), age (-0.29, p &lt; 0.01), the FIM at discharge (0.46, p &lt; 0.01) and the 7-day NIHSS score (-1.71, p &lt; 0.01). Additionally, the post-stroke 6-month K-MBI was significantly associated with CKD (-2.88, p &lt; 0.01), age (-0.27, p &lt; 0.01), the K-MBI at discharge (0.46, p &lt; 0.01) and the 7-day NIHSS score (-1.55, p &lt; 0.01). <b><i>Conclusions:</i></b> This nationwide hospital-based cohort study showed that CKD might predict poor 6-month FIM and K-MBI scores in ischemic stroke patients.
DOI: 10.6084/m9.figshare.5128900.v1
title: Supplementary Material for: Self-Report Daily Life Activity as a Prognostic Marker of Idiopathic Pulmonary Fibrosis

description: <b><i>Background:</i></b> Idiopathic pulmonary fibrosis (IPF) is a progressive disease, leading to substantial physical impairment. The distance walked in 6 min (6MWD) is a measure of exercise tolerance and is of prognostic relevance in IPF. While 6MWD is a punctual measurement which may not be representative, self-reported daily life activity may represent the patients' functional capacity more globally even in less severe affected patients. <b><i>Objectives:</i></b> We evaluated and characterized a simple classification system based on the patients' self-reported daily activity and analyzed if this would add significantly to the prognostic information of the 6MWD alone in IPF patients. <b><i>Methods:</i></b> Daily life activity was assessed in IPF (n = 156) patients with standardized questions and categorized in activity classes (AC I-IV), comprising the less severe impaired in AC I and II. The 6MWD was also assessed. <b><i>Results:</i></b> ACs were related to the lung functional impairment and inversely correlated to the 6MWD. Thirty-two patients were in AC I/II, 98 in AC III and 26 patients in AC IV. Thirty-seven (23.7%) patients died during a median follow-up of 14.9 months, comprising 1 patient in AC I/II. In addition, a 6MWD &lt;470 m predicted mortality. Combining AC I/II and a 6MWD &gt;470 m identified a subgroup of patients with favorable outcome. <b><i>Conclusions:</i></b> AC is a novel scoring system which can easily be obtained and correlates with lung functional and physical impairments as well as mortality. Moreover, AC adds prognostic information to the 6MWD.
DOI: 10.6084/m9.figshare.5128894
title: Supplementary Material for: The Prognosis of Nail Apparatus Melanoma: 20 Years of Experience from a Single Institute

description: <b><i>Introduction and Objectives:</i></b> Nail apparatus melanoma (NAM) is an uncommon tumor, especially in Caucasians. The prognosis of patients affected by NAM was analyzed and correlated with the histopathological criteria and the surgical management of the tumors. <b><i>Materials and Methods: </i></b>We collected data regarding NAM referred to the Skin Cancer Unit of the Dermatology Department of the University of Bologna, from 1992 to January 2012. <b><i>Results:</i></b> Out of 1,327 melanoma cases diagnosed between 1992 and 2012, 42 patients were affected by NAM (2.93%). All the patients were Caucasian. Two deceased patients with insufficient medical records and 1 woman with a personal history of breast cancer were excluded. Thirty-nine cases entered this study: 24 were women (67%) and 15 men (33%). The mean age at diagnosis of NAM was 57.3 years (range 29-88 years). Statistical analyses showed that prognosis was significantly correlated with the Breslow thickness (≥/&lt;2 mm; p = 0.02), regression (p &lt; 0.0001) and ulceration (p = 0.04). Regarding surgical management, Kaplan-Meier's test pointed out that performing functional surgery compared to disarticulation did not correlate with a better prognosis of patients (p = 0.08). <b><i>Conclusions:</i></b> In our experience, the surgical management (disarticulation with respect to functional surgical excision) did not influence the prognosis of NAM patients. The latter was affected by the histopathological characteristics (Breslow thickness, regression and mitoses) and location (fingers vs. foot).