cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5128258.v1
title: Supplementary Material for: A Set of Cytogenetic Markers Allows the Precise Identification of All A-Genome Chromosomes in Diploid and Polyploid Wheat

description: Karyotypes of 3 diploid wheat species containing different variants of the A-genome, <i>Triticum boeoticum </i>(A<sup>b</sup>),<i> T. monococcum </i>(A<sup>b</sup>), and <i>T. urartu </i>(A<sup>u</sup>), were examined using C-banding and FISH with DNA probes representing 5S and 45S rDNA families, the microsatellite sequences GAA<sub>n</sub> and GTT<sub>n</sub>, the already known satellite sequences pSc119.2, Spelt52, <i>Fat</i>, pAs1, and pTa535, and a newly identified repeat called Aesp_SAT86. The C-banding patterns of the 3 species in general were similar; differences were observed in chromosomes 4A and 6A. Besides 2 major 45S rDNA loci on chromosomes 1A and 5A, 2 minor polymorphic NORs were observed in the terminal part of 5AL and in the distal part of 6AS in all species. An additional minor locus was found in the distal part of 7A<sup>b</sup>L of <i>T. boeoticum </i>and <i>T. monococcum, </i>but not in <i>T. urartu.</i> Two 5S rDNA loci were observed in 1AS and 5AS. The pTa535 probe displayed species- and chromosome-specific hybridization patterns, allowing complete chromosome identification and species discrimination. The distribution of pTa535 on the A<sup>u</sup><i>-</i>genome chromosomes was more similar to that on the A-genome chromosomes of <i>T. dicoccoides </i>and <i>T. araraticum, </i>thus confirming the origin of these genomes from <i>T. urartu. </i>The probe pAs1 allowed the identification of 4 chromosomes of <i>T. urartu</i> and 2 of <i>T. boeoticum </i>or <i>T. monococcum. </i>The Aesp_SAT86-derived patterns were polymorphic; main clusters were observed on chromosomes 1A<sup>u</sup> and 3A<sup>u</sup> of <i>T. urartu </i>and chromosomes 3A<sup>b</sup> and 6A<sup>b</sup> of <i>T. boeoticum.</i> Thus, a set of probes, pTa535, pAs1, GAA<sub>n</sub> and GTT<sub>n</sub>, pTa71, pTa794, and Aesp_SAT86, proved to be most informative for the analysis of A-genomes in diploid and polyploid wheat species.
DOI: 10.6084/m9.figshare.5128240
title: Supplementary Material for: Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

description: Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on <i>GADD45A</i> (MIM 126335; growth arrest- and DNA damage-inducible gene), <i>LRRC7</i> (MIM 614453; leucine-rich repeat-containing protein 7), and <i>NEGR1</i> (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.
DOI: 10.6084/m9.figshare.5128237
title: Supplementary Material for: Tracheobronchial Smooth Muscle Atrophy and Separation

description: We report a case series involving 4 patients with chronic obstructive pulmonary disease who were on an appropriate medical regimen including a high dose of inhaled corticosteroids (ICS). During bronchoscopy, patients were found to have an excessive dynamic collapse of the posterior wall and its separation from the ends of the adjacent cartilaginous rings. This was causing a near-total occlusion of the tracheal and bronchial lumen during exhalation, thereby presenting with an obstructive pattern on the pulmonary functions. We suspect that this was caused by the atrophy of the smooth muscles of the tracheobronchial wall. We reviewed the literature to explore the mechanisms causing atrophy of the bronchial smooth muscle, focusing on the potential role of long-term ICS use.
DOI: 10.6084/m9.figshare.5128243
title: Supplementary Material for: Schizophrenia-Like Symptoms in Narcolepsy Type 1: Shared and Distinctive Clinical Characteristics

description: <b><i>Background/Aims:</i></b> The occurrence of psychotic symptoms in narcolepsy type 1 (NT1) has been reported as responsible for delayed diagnosis due to the misdiagnosis of schizophrenia. This study aimed to identify shared and distinctive clinical characteristics between NT1 and schizophrenia, with the focus on psychotic symptoms. <b><i>Methods:</i></b> A total of 28 NT1 and 21 schizophrenia patients were included. Hallucination characteristics and PANSS (Positive and Negative Syndrome Scale), HRSD (Hamilton Rating Scale for Depression), DES (Dissociative Experiences Scale), and STAI (State-Trait Anxiety Inventory) scores were collected. Symptom overlap was investigated by χ<sup>2</sup>, Fisher's or t tests and multiple logistic regression models. <b><i>Results:</i></b> Hallucinations and illusions frequently occurred in both diseases. Unimodal hallucinations were more common in schizophrenia (p = 6.30e-07) and multimodal hallucinations in NT1, but no clear difference was identified in their sensory modality. Hypnagogic/hypnopompic hallucinations were typical of NT1 (p = 5.22e-07), and 25% of NT1 patients exhibited some degree of insight deficit. Hypnagogic/hypnopompic hallucinations, unimodal hallucinations and PANSS score were the most distinctive clinical characteristics. Clinical overlap was found in the dissociative and anxiety domains, while higher depressive scores were observed in schizophrenia. <b><i>Conclusion:</i></b> The overlap between NT1 and schizophrenia should be further investigated under a clinical and pathogenetic point of view to improve diagnostic and therapeutic approaches.
DOI: 10.6084/m9.figshare.5128246
title: Supplementary Material for: Auditing Neonatal Intensive Care: Is PREM a Good Alternative to CRIB for Mortality Risk Adjustment in Premature Infants?

description: <b><i>Background:</i></b> Comparing outcomes at different neonatal intensive care units (NICUs) requires adjustment for intrinsic risk. The Clinical Risk Index for Babies (CRIB) is a widely used risk model, but it has been criticized for being affected by therapeutic decisions. The Prematurity Risk Evaluation Measure (PREM) is not supposed to be prone to treatment bias, but has not yet been validated. <b><i>Objectives:</i></b> We aimed to validate the PREM, compare its accuracy to that of the original and modified versions of the CRIB and CRIB-II, and examine the congruence of risk categorization. <b><i>Methods:</i></b> Very-low-birth-weight (VLBW) infants with a gestational age (GA) &lt;33 weeks, who were admitted to NICUs in Baden-Württemberg from 2003 to 2008, were identified from the German neonatal quality assurance program. CRIB, CRIB-II and PREM scores were calculated and modified. Omitting variables that directly reflected therapeutic decisions [the applied fraction of inspired oxygen (FiO<sub>2</sub>)] or that may have been prone to early-treatment bias (base excess and temperature), non-NICU-therapy-influenced scores were obtained. Score performance was assessed by the area under their ROC curve (AUC). <b><i>Results:</i></b> The CRIB showed the largest AUC (0.89), which dropped significantly (to 0.85) after omitting the FiO<sub>2</sub>. The PREM birth condition model, PREM(bcm) (AUC 0.86), and the PREM birth model, PREM(bm) (AUC 0.82), also demonstrated good discrimination. PREM(bm) was superior to other non-therapy-affected scores and to GA, particularly in infants with &lt;750 g birth weight. Congruence of risk categorization was low, especially among higher-risk cases. <b><i>Conclusions:</i></b> The CRIB score had the largest AUC, resulting from its inclusion of FiO<sub>2</sub>. PREM(bm), as the most accurate score among those unaffected by early treatment, seems to be a good alternative for strict risk adjustment in NICU auditing. It could be useful to combine scores.
DOI: 10.6084/m9.figshare.5128249
title: Supplementary Material for: A Randomized Comparative Study of Oral Corticosteroid Minipulse and Low-Dose Oral Methotrexate in the Treatment of Unstable Vitiligo

description: <b><i>Background:</i></b> Despite continued progress towards elucidation of the biochemical, genetic and immunopathological pathways in vitiligo, a definitive cure remains elusive. The initial therapy must be directed to arrest disease progression. Oral minipulse therapy (OMP) with betamethasone/dexamethasone has been tried and shown to be an effective modality to arrest the disease progression in vitiligo. <b><i>Objectives:</i></b> Methotrexate (MTX) is a time-tested effective treatment extensively used in various autoimmune disorders with good efficacy, safety and tolerability on a long-term basis. We intended to compare the efficacy of MTX with that of OMP in patients with unstable vitiligo vulgaris. <b><i>Patients and Methods:</i></b> In a prospective randomized open label study, 52 patients with vitiligo were divided into two groups. Patients in group 1 received 10 mg methotrexate weekly. Group 2 patients received corticosteroid OMP which comprised tablets of dexamethasone 2.5 mg (5 tablets), taken on 2 consecutive days in a week (total weekly dose of 5 mg dexamethasone). <b><i>Results:</i></b> In the MTX group, among 25 patients analyzed, during the course of treatment for 24 weeks, overall 6 patients developed new vitiliginous lesions. In the OMP group, 7/25 patients developed new lesions. Statistical correlation between the two groups showed no significance in the number of patients who developed new lesions (increasing disease activity) in either of the groups. At the end of the study, it was demonstrated that patients in both groups had a similar reduction in the vitiligo disease activity score. <b><i>Conclusion:</i></b> Our study demonstrated that both drugs are equally effective in controlling the disease activity of vitiligo. MTX can be used in patients with active vitiligo, wherever corticosteroids are contraindicated.
DOI: 10.6084/m9.figshare.5128237.v1
title: Supplementary Material for: Tracheobronchial Smooth Muscle Atrophy and Separation

description: We report a case series involving 4 patients with chronic obstructive pulmonary disease who were on an appropriate medical regimen including a high dose of inhaled corticosteroids (ICS). During bronchoscopy, patients were found to have an excessive dynamic collapse of the posterior wall and its separation from the ends of the adjacent cartilaginous rings. This was causing a near-total occlusion of the tracheal and bronchial lumen during exhalation, thereby presenting with an obstructive pattern on the pulmonary functions. We suspect that this was caused by the atrophy of the smooth muscles of the tracheobronchial wall. We reviewed the literature to explore the mechanisms causing atrophy of the bronchial smooth muscle, focusing on the potential role of long-term ICS use.
DOI: 10.6084/m9.figshare.5128240.v1
title: Supplementary Material for: Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

description: Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on <i>GADD45A</i> (MIM 126335; growth arrest- and DNA damage-inducible gene), <i>LRRC7</i> (MIM 614453; leucine-rich repeat-containing protein 7), and <i>NEGR1</i> (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.
DOI: 10.6084/m9.figshare.5128246.v1
title: Supplementary Material for: Auditing Neonatal Intensive Care: Is PREM a Good Alternative to CRIB for Mortality Risk Adjustment in Premature Infants?

description: <b><i>Background:</i></b> Comparing outcomes at different neonatal intensive care units (NICUs) requires adjustment for intrinsic risk. The Clinical Risk Index for Babies (CRIB) is a widely used risk model, but it has been criticized for being affected by therapeutic decisions. The Prematurity Risk Evaluation Measure (PREM) is not supposed to be prone to treatment bias, but has not yet been validated. <b><i>Objectives:</i></b> We aimed to validate the PREM, compare its accuracy to that of the original and modified versions of the CRIB and CRIB-II, and examine the congruence of risk categorization. <b><i>Methods:</i></b> Very-low-birth-weight (VLBW) infants with a gestational age (GA) &lt;33 weeks, who were admitted to NICUs in Baden-Württemberg from 2003 to 2008, were identified from the German neonatal quality assurance program. CRIB, CRIB-II and PREM scores were calculated and modified. Omitting variables that directly reflected therapeutic decisions [the applied fraction of inspired oxygen (FiO<sub>2</sub>)] or that may have been prone to early-treatment bias (base excess and temperature), non-NICU-therapy-influenced scores were obtained. Score performance was assessed by the area under their ROC curve (AUC). <b><i>Results:</i></b> The CRIB showed the largest AUC (0.89), which dropped significantly (to 0.85) after omitting the FiO<sub>2</sub>. The PREM birth condition model, PREM(bcm) (AUC 0.86), and the PREM birth model, PREM(bm) (AUC 0.82), also demonstrated good discrimination. PREM(bm) was superior to other non-therapy-affected scores and to GA, particularly in infants with &lt;750 g birth weight. Congruence of risk categorization was low, especially among higher-risk cases. <b><i>Conclusions:</i></b> The CRIB score had the largest AUC, resulting from its inclusion of FiO<sub>2</sub>. PREM(bm), as the most accurate score among those unaffected by early treatment, seems to be a good alternative for strict risk adjustment in NICU auditing. It could be useful to combine scores.
DOI: 10.6084/m9.figshare.5128225
title: Supplementary Material for: Extracellular Uridine Triphosphate and Adenosine Triphosphate Attenuate Endothelial Inflammation through miR-22-Mediated ICAM-1 Inhibition

description: Adenosine and uridine triphosphate (ATP and UTP) can act as extracellular signalling molecules, playing important roles in vascular biology and disease. ATP and UTP acting via the P2Y<sub>2</sub>-receptor have, for example, been shown to regulate endothelial dilatation, inflammation and angiogenesis. MicroRNAs (miRNAs), a class of regulatory, short, non-coding RNAs, have been shown to be important regulators of these biological processes. In this study, we used RNA deep-sequencing to explore changes in miRNA expression in the human microvascular endothelial cell line HMEC-1 upon UTP treatment. The expression of miR-22, which we have previously shown to target ICAM-1 mRNA in HMEC-1, increased significantly after stimulation. Up-regulation of miR-22 and down-regulation of cell surface ICAM-1 were confirmed with qRT-PCR and flow cytometry, respectively. siRNA-mediated knockdown of the P2Y<sub>2</sub>-receptor abolished the effect of UTP on miR-22 transcription. Leukocyte adhesion was significantly inhibited in HMEC-1 following miR-22 overexpression and treatment with UTP/ATP. In conclusion, extracellular UTP and ATP can attenuate ICAM-1 expression and leukocyte adhesion in endothelial cells through miR-22.
DOI: 10.6084/m9.figshare.5128228
title: Supplementary Material for: Clinical Expression of Multiple Sclerosis in Hispanic Whites of Primarily Caribbean Ancestry

description: <b><i>Objective:</i></b> The clinical characteristics of multiple sclerosis (MS) are not well defined in Hispanic populations. We hypothesized that disease presentation in Hispanic white (HW) patients will be different from non-Hispanic white (NHW) patients given their ancestral background and reported lower disease prevalence. This study was undertaken to compare HW of primarily Caribbean ancestry to NHW on clinical characteristics of MS. <b><i>Methods:</i></b> We assessed 312 HW and 312 NHW patients with definite MS for clinical disease characteristics obtained through consented review of medical records. In order to assess the relationship between age-related phenotypes and ethnicity, linear regression was used. Logistic regression was used to assess the relationship between ethnicity and descriptors of disease presentation and severity as well as presence of neurological symptoms. <b><i>Results:</i></b> We observed a significantly younger age at diagnosis (p = 1.38E-02) and age at exam (p = 2.36E-05) in HW. However, age at first symptom did not differ significantly between the two groups. Furthermore, within HW, the mean age at first symptom and age at diagnosis was significantly younger in those born in the United States (p &lt; 1.00E-03 for both). Interestingly, we noted an increase in ambulatory disability in HW patients, primarily among those with relapsing disease (p = 4.18E-03). <b><i>Conclusions:</i></b> We found several differences in age-related phenotypes and disease severity between HW of primarily Caribbean origin and NHW patients. To our knowledge, this is the largest study to date that examined the clinical characteristics of MS in Hispanic patients of largely Caribbean origin.
DOI: 10.6084/m9.figshare.5128231
title: Supplementary Material for: Prevalence and Determinants of Tinnitus in the Italian Adult Population

description: <b><i>Background:</i></b> Limited, outdated, and poor quality data are available on the prevalence of tinnitus, particularly in Italy. <b><i>Methods:</i></b> A face-to-face survey was conducted in 2014 on 2,952 individuals, who represented the Italian population aged 18 or more (50.6 million). Any tinnitus was defined as the presence of ringing or buzzing in the ears lasting for at least 5 min in the previous 12 months. <b><i>Results:</i></b> Any tinnitus was reported by 6.2% of Italian adults, chronic tinnitus (i.e. for more than 3 months) by 4.8%, and severe tinnitus (i.e. which constitutes a big or very big problem) by 1.2%. The corresponding estimates for the population aged ≥45 years were 8.7, 7.4 and 2.0%, respectively. Multivariable analysis on population aged ≥45 years revealed that old age (odds ratio (OR) = 4.49 for ≥75 vs. 45-54 years) and obesity (OR = 2.14 compared to normal weight) were directly related to any tinnitus, and high monthly family income (OR = 0.50) and moderate alcohol consumption (OR = 0.59 for &lt;7 drinks/week vs. non-drinking) were inversely related. <b><i>Conclusions:</i></b> This is the first study on tinnitus prevalence among the general Italian adult population. It indicates that in Italy tinnitus affects more than 3 million adults and is felt as a major problem by more than 600,000 Italians, mostly aged 45 years or more.
DOI: 10.6084/m9.figshare.5128234
title: Supplementary Material for: Severe Pulmonary Hypertension Associated with COPD: Hemodynamic Improvement with Specific Therapy

description: <b><i>Background:</i></b> There is no recommendation for treating pulmonary hypertension (PH) when associated with chronic obstructive pulmonary disease (COPD). <b><i>Objective:</i></b> To evaluate the effect of PH-specific therapy in patients with COPD. <b><i>Methods:</i></b> All successive patients with severe PH [mean pulmonary arterial pressure (mPAP) ≥35 mm Hg] and COPD, who received specific PH medication and who underwent right heart catheterization at baseline and after 3-12 months of treatment, were analyzed from a prospective database. <b><i>Results:</i></b> Twenty-six patients were included with a median follow-up of 14 months. Mean forced expiratory volume in 1 s was 57 ± 20% of predicted, and mean forced expiratory volume in 1 s/forced vital capacity was 47 ± 12%. Dyspnea was New York Health Association classification stage (NYHA) II in 15%, NYHA III in 81% and NYHA IV in 4%. First-line treatments were endothelin receptor antagonists in 11 patients, phosphodiesterase-5 inhibitors in 11 patients, calcium blocker in 1 patient, combination therapy in 3 patients including 2 with a prostanoid. After 6 ± 3 months, pulmonary vascular resistance decreased from 8.5 ± 3 to 6.6 ± 2 Wood units (p &lt; 0.001), with significant improvement of cardiac index from 2.44 ± 0.43 to 2.68 ± 0.63 liters × min × m<sup>-2</sup> (p = 0.015) and mPAP from 48 ± 9 to 42 ± 10 mm Hg (p = 0.008). There was no significant difference in dyspnea, 6-min walking distance, echocardiographic parameters or N-terminal pro-brain natriuretic peptide levels. There was no significant difference in arterial oxygen saturation after 3-12 months of treatment. <b><i>Conclusions:</i></b> Specific PH medications may improve hemodynamic parameters in COPD patients with severe PH. Appropriate prospective randomized studies are needed to evaluate the potential long-term clinical benefit of treatment.
DOI: 10.6084/m9.figshare.5128222
title: Supplementary Material for: Cerebral Artery Remodeling in Rodent Models of Subarachnoid Hemorrhage

description: Vasospasm is known to contribute to delayed cerebral ischemia following subarachnoid hemorrhage (SAH). We hypothesized that vasospasm initiates structural changes within the vessel wall, possibly aggravating ischemia and leading to resistance to vasodilator treatment. We therefore investigated the effect of blood on cerebral arteries with respect to contractile activation and vascular remodeling. In vitro experiments on rodent basilar and middle cerebral arteries showed a gradual contraction in response to overnight exposure to blood. After incubation with blood, a clear inward remodeling was found, reducing the caliber of the passive vessel. The transglutaminase inhibitor L682.777 fully prevented this remodeling. Translation of the in vitro findings to an in vivo SAH model was attempted in rats, using both a single prechiasmatic blood injection model and a double cisterna magna injection model, and in mice, using a single prechiasmatic blood injection. However, we found no substantial changes in active or passive biomechanical properties in vivo. We conclude that extravascular blood can induce matrix remodeling in cerebral arteries, which reduces vascular caliber. This remodeling depends on transglutaminase activity. However, the current rodent SAH models do not permit in vivo confirmation of this mechanism.