cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5121265
title: Supplementary Material for: To Grow Old in Southern Italy: A Comprehensive Description of the Old and Oldest Old in Calabria

description: <i>Background:</i> The unprecedented growth of the elderly population is posing important social and medical problems as management of this population is highly demanding in terms of assistance and care. Consequently, many studies are focusing on the elderly subjects in order to better understand their needs by identifying various environmental, social, psychological, and genetic factors determining the quality of ageing. <i>Objectives:</i> Our aim was to carry out a survey of the elderly Calabrian population in order to highlight the social and medical conditions of this continuously growing population group. <i>Methods:</i> We have been monitoring the elderly population of Calabria for more than 10 years. For the present study, we collected data regarding 853 subjects by using two specific questionnaires, one for the subjects older than 90 years (400 subjects) and one for the subjects aged between 65 and 85 years (453 subjects). <i>Results:</i> The survey allowed us to carry out an extensive description of the ageing Calabrian population regarding the sociodemographic characteristics, living conditions, cognitive functioning, level of independence in activities of daily living, former and current diseases and health disorders. We could notice that males were in a better condition than females. In fact, male subjects turned out to have better physical performance and lower comorbidity, although their life expectancy is lower. Ultranonagenarians had a lower incidence of serious diseases (such as diabetes, osteoporosis and gastric ulcer), but a higher incidence of non-fatal chronic, debilitating conditions (cataract and bronchitis among others). <i>Conclusion:</i> The data we collected and analyzed offer a portrait of elderly Calabrian subjects, on who they are, how they feel, which social and psychological resources they have, and what their health status is. Analysis of the data highlighted that they are characterized by a lower physical performance in comparison to other European populations. Finally, the data presented here may also serve as a valuable source of information to characterize the ageing Calabrian population and improve the care of these subjects.
DOI: 10.6084/m9.figshare.5121256
title: Supplementary Material for: Type 2 Diabetes in Octogenarians Is Associated with Decreased Low Molecular Weight Adiponectin

description: <i>Background:</i> Adiponectin circulates in the blood in three different multimer isoforms, of which the high molecular weight form (HMW) is presumed to mediate insulin sensitivity. We examined whether adiponectin oligomer distribution is associated with aging and type 2 diabetes (T2D) in octogenarians without characteristic features of metabolic syndrome. <i>Methods:</i> The study included 154 octogenarians (58 men, 96 women), 24 normoglycemic middle-aged controls (11 men, 13 women; mean age 44 years), and 33 middle-aged individuals (14 men, 19 women; mean age 55 years) with T2D. Based on oral glucose tolerance test 62 octogenarians had normal, 63 impaired glucose tolerance, and 29 octogenarians had newly detected T2D. Serum adiponectin multimer isoforms were measured after overnight fast by enzyme-linked immunosorbent assays. <i>Results:</i>Compared to the normoglycemic middle-aged control group, male normoglycemic octogenarians revealed significantly higher total adiponectin and all adiponectin isoforms. The same was true for females with the exception of low molecular weight (LMW) adiponectin, which was not statistically higher in octogenarians. Male and female octogenarians with T2D had significantly higher levels of total, HMW, and middle molecular weight (MMW) adiponectin, but not LMW adiponectin, than middle-aged individuals with T2D. Female, but not male, octogenarians revealed significantly lower total adiponectin than normoglycemic octogenarians. Compared with normoglycemic octogenarians, male and female octogenarians with T2D were characterized by significantly lower LMW adiponectin. In male and female octogenarians, total adiponectin and all multimer isoforms were directly correlated with HDL cholesterol. LMW adiponectin in octogenarians of both sexes was inversely correlated with glucose level at 2-hour oral glucose tolerance test. <i>Conclusions:</i> Serum levels of total adiponectin as well as its HMW and MMW isoforms were significantly higher in octogenarians with normoglycemia or T2D than in corresponding middle-aged control groups. In male and female octogenarians without metabolic syndrome, T2D was associated with lower LMW adiponectin, while the HMW and MMW isoforms were not statistically different.
DOI: 10.6084/m9.figshare.5121259
title: Supplementary Material for: Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

description: <i>Aims:</i> The Williams-Beuren syndrome (WBS) is a genetic disorder caused by a heterozygous ∼1.5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter <i>Eln</i> expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo. <i>Methods:</i> Elastin (ELN) transcript levels were quantified by qRT-PCR and blood pressure was measured with a tail cuff system. M-mode ultrasound was used to track pulsatile abdominal aortic wall motion. Aortas were sectioned and stained to determine medial lamellar structure. <i>Results:</i> ELN transcript levels were reduced by 38–41% in Wbs mice lacking one copy of the ELN gene. These mice also had a 10–20% increase in mean blood pressure and significantly reduced circumferential cyclic strain (p &lt; 0.001). Finally, histological sections showed disorganized and fragmented elastin sheets in Wbs mice, but not the characteristic increase in lamellar units seen in <i>Eln</i><sup>+/–</sup> mice. <i>Conclusions:</i> The deletion of <i>Eln</i> in this Wbs mouse model results in lower gene expression, hypertension, reduced cyclic strain, and fragmented elastin sheets. The observation that the number of medial lamellar units is normal in Wbs deletion mice, which is in contrast to <i>Eln</i><sup>+/–</sup> mice, suggests other genes may be involved in vascular development.
DOI: 10.6084/m9.figshare.5121265.v1
title: Supplementary Material for: To Grow Old in Southern Italy: A Comprehensive Description of the Old and Oldest Old in Calabria

description: <i>Background:</i> The unprecedented growth of the elderly population is posing important social and medical problems as management of this population is highly demanding in terms of assistance and care. Consequently, many studies are focusing on the elderly subjects in order to better understand their needs by identifying various environmental, social, psychological, and genetic factors determining the quality of ageing. <i>Objectives:</i> Our aim was to carry out a survey of the elderly Calabrian population in order to highlight the social and medical conditions of this continuously growing population group. <i>Methods:</i> We have been monitoring the elderly population of Calabria for more than 10 years. For the present study, we collected data regarding 853 subjects by using two specific questionnaires, one for the subjects older than 90 years (400 subjects) and one for the subjects aged between 65 and 85 years (453 subjects). <i>Results:</i> The survey allowed us to carry out an extensive description of the ageing Calabrian population regarding the sociodemographic characteristics, living conditions, cognitive functioning, level of independence in activities of daily living, former and current diseases and health disorders. We could notice that males were in a better condition than females. In fact, male subjects turned out to have better physical performance and lower comorbidity, although their life expectancy is lower. Ultranonagenarians had a lower incidence of serious diseases (such as diabetes, osteoporosis and gastric ulcer), but a higher incidence of non-fatal chronic, debilitating conditions (cataract and bronchitis among others). <i>Conclusion:</i> The data we collected and analyzed offer a portrait of elderly Calabrian subjects, on who they are, how they feel, which social and psychological resources they have, and what their health status is. Analysis of the data highlighted that they are characterized by a lower physical performance in comparison to other European populations. Finally, the data presented here may also serve as a valuable source of information to characterize the ageing Calabrian population and improve the care of these subjects.
DOI: 10.6084/m9.figshare.5121268.v1
title: Supplementary Material for: Maternal Hyperglycemia Modifies Extracellular Matrix Signaling Pathways in Neonatal Rat Lung

description: <i>Background:</i> Maternal diabetes is associated with numerous adverse effects in fetal and neonatal organs, including the lungs. <i>Objective:</i> To investigate the effects of intrauterine hyperglycemia on neonatal lung biological signaling, we performed a microarray analysis in the lungs of four 14-day-old rat pups born to a hyperglycemic dam and in four age mate control pup lungs. <i>Methods:</i> Total RNA was isolated and cDNA was hybridized to the Illumina Sentrix® RatRef-12 BeadChip. A total of 22,000 genes were analyzed for expression profiles and functional gene clustering. Ten selected genes differentially expressed in microarray were additionally analyzed by the real-time polymerase chain reaction. <i>Results:</i> Two hundred twenty-seven genes were differentially expressed in neonatal rat lungs exposed to intrauterine hyperglycemia when compared to normoglycemic controls (fold change &gt; 1.2, p &lt; 0.001). Functional clustering analysis revealed increased expression in signaling pathways involved with extracellular matrix regulation. The most significantly downregulated functions were cell proliferation, extracellular region, cell adhesion and reactive oxygen species metabolism. <i>Conclusion:</i> We found significant hyperglycemia-induced gene expression alterations in neonatal rat pulmonary tissue which may interfere with lung growth and biological signaling pathways.
DOI: 10.6084/m9.figshare.5121271.v1
title: Supplementary Material for: Using a Pharmacokinetic Model to Relate an Individual’s Susceptibility to Alcohol Dependence to Genotypes

description: <i>Background/Aims:</i> Population-based studies have successfully identified genes affecting common diseases, but have not provided a molecular mechanism. We describe an approach for alcohol dependence connecting a mechanistic model at the molecular level with disease risk at the population level, and investigate how this model implies statistical gene-gene interactions that affect disease risk. <i>Methods:</i> We develop a pharmacokinetic model describing how genetic variations in <i>ADH1B</i>, <i>ADH1C</i>, <i>ADH7</i>, <i>ALDH2</i>, and <i>TAS2R38</i> affect consumption behavior, and alcohol and acetaldehyde levels over time in various tissues of individuals with a particular genotype to predict their susceptibility to alcohol dependence. <i>Results:</i> We show that there is good agreement between the observed genotype/haplotype frequencies and those predicted by the model among cases and controls. Based on this framework, we show that we expect to observe statistical interactions among these genes for a reasonably large sample size when logistic regression models are used to relate genotype effects and disease risk. <i>Conclusion:</i> Our model exemplifies mechanistic modeling of how genes interact to influence an individual’s susceptibility to alcohol dependence. We anticipate that this general approach could also be applied to study other diseases at the molecular level.
DOI: 10.6084/m9.figshare.5121253
title: Supplementary Material for: Lack of Activation of the Unfolded Protein Response in Mouse and Cellular Models of Niemann-Pick Type C Disease

description: <i>Background:</i> Niemann-Pick type C (NPC) disease is a fatal lysosomal storage disease related to progressive neurodegeneration secondary to abnormal intracellular accumulation of cholesterol. Signs of endoplasmic reticulum (ER) stress have been reported in other lipidoses. Adaptation to ER stress is mediated by the unfolded protein response (UPR), an integrated signal transduction pathway that attenuates stress or triggers apoptosis of irreversibly damaged cells. <i>Objective:</i> To investigate the possible engagement of ER stress responses in NPC models. <i>Methods:</i> We used NPC1 deficient mice and an NPC cell-based model by knocking down the expression of NPC1 to measure several UPR markers through different approaches. <i>Results:</i> Despite expectations that the UPR will be activated in NPC, our results indicate a lack of ER stress reactions in the cerebellum of symptomatic mice. Similarly, knocking down NPC1 in Neuro2a cells leads to clear cholesterol accumulation without evidence of UPR activation. <i>Conclusion:</i> Our results suggest that cholesterol overload and neuronal dysfunction in NPC is not associated with ER stress, which contrasts with recent reports suggesting the activation of the UPR in other lysosomal storage diseases.
DOI: 10.6084/m9.figshare.5121259.v1
title: Supplementary Material for: Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities

description: <i>Aims:</i> The Williams-Beuren syndrome (WBS) is a genetic disorder caused by a heterozygous ∼1.5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter <i>Eln</i> expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo. <i>Methods:</i> Elastin (ELN) transcript levels were quantified by qRT-PCR and blood pressure was measured with a tail cuff system. M-mode ultrasound was used to track pulsatile abdominal aortic wall motion. Aortas were sectioned and stained to determine medial lamellar structure. <i>Results:</i> ELN transcript levels were reduced by 38–41% in Wbs mice lacking one copy of the ELN gene. These mice also had a 10–20% increase in mean blood pressure and significantly reduced circumferential cyclic strain (p &lt; 0.001). Finally, histological sections showed disorganized and fragmented elastin sheets in Wbs mice, but not the characteristic increase in lamellar units seen in <i>Eln</i><sup>+/–</sup> mice. <i>Conclusions:</i> The deletion of <i>Eln</i> in this Wbs mouse model results in lower gene expression, hypertension, reduced cyclic strain, and fragmented elastin sheets. The observation that the number of medial lamellar units is normal in Wbs deletion mice, which is in contrast to <i>Eln</i><sup>+/–</sup> mice, suggests other genes may be involved in vascular development.
DOI: 10.6084/m9.figshare.5121262.v1
title: Supplementary Material for: Case Report and Review: Prenatal Diagnosis of Congenital Megalourethra

description: Megalourethra is a rare congenital anomaly characterized by dilatation of the penile urethra which causes functional obstruction of the lower urinary system. We present a case of congenital megalourethra diagnosed prenatally. Transabdominal sonography revealed a male fetus with bilateral hydroureter, hydronephrosis, dilated bladder and normal amniotic fluid. The fetal penis was enlarged and the penile urethra was dilated with ballooning at the distal end. The urethral meatus was identified. The fetus was delivered at term with a favorable outcome.
DOI: 10.6084/m9.figshare.5121244
title: Supplementary Material for: Efficacy of Desloratadine in Persistent Allergic Rhinitis – A GA<sup>2</sup>LEN Study

description: <i>Background:</i> The ARIA (Allergic Rhinitis and its Impact on Asthma) guidelines proposed a classification for allergic rhinitis based on the duration of symptoms (intermittent or persistent) rather than on the time of allergen exposure (seasonal or perennial). There had been no placebo-controlled, randomized, clinical trial of desloratadine (DL) in patients with persistent allergic rhinitis to date. <i>Objectives:</i> To assess the efficacy and safety of DL in patients with persistent allergic rhinitis based on the ARIA classification. <i>Methods:</i> Patients 12 years of age and older with persistent allergic rhinitis were assessed over 85 days of treatment with DL 5 mg once daily (n = 360) or placebo (n = 356). The primary endpoint was the AM/PM reflective total 5-symptom score (T5SS) averaged over days 1–29. Secondary endpoints included AM/PM instantaneous T5SS and individual symptoms, therapeutic response, symptom severity assessed by a visual analogue scale and quality of life. <i>Results:</i> The mean reduction in AM/PM reflective T5SS was significantly greater with DL than placebo over days 1–29 (–3.76 vs. –2.87, p &lt; 0.001) and on each individual day (p &lt; 0.05). The mean AM instantaneous T5SS was significantly reduced with DL compared with placebo as early as day 2 (–1.90 vs. –1.46; p &lt; 0.001). The therapeutic response and improvement in quality of life were significantly greater with DL than placebo (p &lt; 0.001 for each). The frequency of treatment-related adverse events was low and similar between DL (10.0%) and placebo (8.4%). <i>Conclusions:</i> This study showed DL to be effective and safe in the treatment of persistent allergic rhinitis.
DOI: 10.6084/m9.figshare.5121247
title: Supplementary Material for: Effects of a High-Salt Diet on TRPV-1-Dependent Renal Nerve Activity in Dahl Salt-Sensitive Rats

description: <i>Objective:</i> To test the hypothesis that transient receptor potential vanilloid type 1 channel (TRPV1)-mediated increases in afferent renal nerve activity (ARNA) and release of substance P (SP) and calcitonin gene-related peptide (CGRP) from the renal pelvis are suppressed in Dahl salt-sensitive (DS), but not -resistant (DR), rats fed a high-salt (HS) diet. <i>Methods and Results:</i> Male DS and DR rats were given a HS or low-salt (LS) diet for 3 weeks. Perfusion of capsaicin (CAP, 10<sup>–6</sup><i>M</i>), a selective TRPV1 agonist, into the left renal pelvis increased ipsilateral ARNA in all groups, but with a smaller magnitude in DS-HS compared to other groups. CAP increased contralateral urine flow in all groups except DS-HS rats. CAP-induced release of SP and CGRP from the renal pelvis was less in DS-HS compared to other groups. Western blot showed that TRPV1 expression in the kidney decreased while expression of neurokinin 1 receptors increased in DS-HS compared to other groups. <i>Conclusion:</i> TRPV1-mediated increases in ARNA and release of SP and CGRP in the renal pelvis are impaired in DS rats fed a HS diet, which can likely be attributed to suppressed TRPV1 expression in the kidney and contributes to increased salt sensitivity.
DOI: 10.6084/m9.figshare.5121241
title: Supplementary Material for: Nonpharmacological Therapies in Alzheimer’s Disease: A Systematic Review of Efficacy

description: <i>Introduction:</i> Nonpharmacological therapies (NPTs) can improve the quality of life (QoL) of people with Alzheimer’s disease (AD) and their carers. The objective of this study was to evaluate the best evidence on the effects of NPTs in AD and related disorders (ADRD) by performing a systematic review and meta-analysis of the entire field. <i>Methods:</i> Existing reviews and major electronic databases were searched for randomized controlled trials (RCTs). The deadline for study inclusion was September 15, 2008. Intervention categories and outcome domains were predefined by consensus. Two researchers working together detected 1,313 candidate studies of which 179 RCTs belonging to 26 intervention categories were selected. Cognitive deterioration had to be documented in all participants, and degenerative etiology (indicating dementia) had to be present or presumed in at least 80% of the subjects. Evidence tables, meta-analysis and summaries of results were elaborated by the first author and reviewed by author subgroups. Methods for rating level of evidence and grading practice recommendations were adapted from the Oxford Center for Evidence-Based Medicine. <i>Results:</i> Grade A treatment recommendation was achieved for institutionalization delay (multicomponent interventions for the caregiver, CG). Grade B recommendation was reached for the person with dementia (PWD) for: improvement in cognition (cognitive training, cognitive stimulation, multicomponent interventions for the PWD); activities of daily living (ADL) (ADL training, multicomponent interventions for the PWD); behavior (cognitive stimulation, multicomponent interventions for the PWD, behavioral interventions, professional CG training); mood (multicomponent interventions for the PWD); QoL (multicomponent interventions for PWD and CG) and restraint prevention (professional CG training); for the CG, grade B was also reached for: CG mood (CG education, CG support, multicomponent interventions for the CG); CG psychological well-being (cognitive stimulation, multicomponent interventions for the CG); CG QoL (multicomponent interventions for PWD and CG). <i>Conclusion:</i> NPTs emerge as a useful, versatile and potentially cost-effective approach to improve outcomes and QoL in ADRD for both the PWD and CG.
DOI: 10.6084/m9.figshare.5121253.v1
title: Supplementary Material for: Lack of Activation of the Unfolded Protein Response in Mouse and Cellular Models of Niemann-Pick Type C Disease

description: <i>Background:</i> Niemann-Pick type C (NPC) disease is a fatal lysosomal storage disease related to progressive neurodegeneration secondary to abnormal intracellular accumulation of cholesterol. Signs of endoplasmic reticulum (ER) stress have been reported in other lipidoses. Adaptation to ER stress is mediated by the unfolded protein response (UPR), an integrated signal transduction pathway that attenuates stress or triggers apoptosis of irreversibly damaged cells. <i>Objective:</i> To investigate the possible engagement of ER stress responses in NPC models. <i>Methods:</i> We used NPC1 deficient mice and an NPC cell-based model by knocking down the expression of NPC1 to measure several UPR markers through different approaches. <i>Results:</i> Despite expectations that the UPR will be activated in NPC, our results indicate a lack of ER stress reactions in the cerebellum of symptomatic mice. Similarly, knocking down NPC1 in Neuro2a cells leads to clear cholesterol accumulation without evidence of UPR activation. <i>Conclusion:</i> Our results suggest that cholesterol overload and neuronal dysfunction in NPC is not associated with ER stress, which contrasts with recent reports suggesting the activation of the UPR in other lysosomal storage diseases.