cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5129623
title: Supplementary Material for: Association between Single-Nucleotide Polymorphisms of the <b><i>hOGG1,</i></b><b><i>NEIL1,</i></b><b><i>APEX1, FEN1,</i></b><b><i>LIG1,</i></b> and <b><i>LIG3</i></b> Genes and Alzheimer's Disease Risk

description: <b><i>Background:</i></b> One of the factors that contribute to Alzheimer's disease (AD) is the DNA damage caused by oxidative stress and inflammation that occurs in nerve cells. It has been suggested that the risk of AD may be associated with an age-dependent reduction of the DNA repair efficiency. Base excision repair (BER) is, among other things, a main repair system of oxidative DNA damage. One of the reasons for the reduced efficiency of this system may be single-nucleotide polymorphisms (SNP) of the genes encoding its proteins. <b><i>Methods:</i></b> DNA for genotyping was obtained from the peripheral blood of 281 patients and 150 controls. In the present study, we evaluated the impact of 8 polymorphisms of 6 BER genes on the AD risk. We analyzed the following SNP: c.-468T&gt;G and c.444T&gt;G of <i>APEX1,</i> c.*50C&gt;T and c.*83A&gt;C of <i>LIG3,</i> c.977C&gt;G of OGG1, c.*283C&gt;G of <i>NEIL1,</i> c.-441G&gt;A of <i>FEN1,</i> and c.-7C&gt;T of LIG1. <b><i>Results:</i></b> We showed that the <i>LIG1</i> c.-7C&gt;T A/A and <i>LIG3</i> c.*83A&gt;C A/C variants increased, while the <i>APEX1</i> c.444T&gt;G G/T, <i>LIG1</i> c.-7C&gt;T G/, <i>LIG3</i> c.*83A&gt;C C/C variants reduced, the AD risk. We also evaluated the relation between gene-gene interactions and the AD risk. We showed that combinations of certain BER gene variants such as c.977C&gt;G×c.*50C&gt;T CC/CT, c.444T&gt;G×c.*50C&gt;T GG/CT, c.-468T&gt;G×c.*50C&gt;T GG/CT, c.-441G&gt;Ac.*50C&gt;T×c.*50C&gt;T GG/CT, c.*83A&gt;C× c.*50C&gt;T CT/AC, and c.-7C&gt;T×c.*50C&gt;T CT/GG can substantially positively modulate the risk of AD. <b><i>Conclusions:</i></b> In conclusion, we revealed that polymorphisms of BER genes may have a significant effect on the AD risk, and the presence of polymorphic variants may be an important marker for AD.
DOI: 10.6084/m9.figshare.5129629
title: Supplementary Material for: <b><i>TPH1</i></b> and <b><i>5-HTTLPR</i></b> Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence

description: <b><i>Background:</i></b> Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, <i>TPH1 A218C</i> (rs1800532) and <i>5-HTT</i>-linked promoter region <i>(5-HTTLPR)</i> (rs25531), are differently associated with alcohol or opiate dependence. <b><i>Methods:</i></b> Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of <i>TPH1 A218C</i> and <i>5-HTTLPR</i> polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. <b><i>Results:</i></b> The genotype frequencies of the <i>TPH1 A218C</i> polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the<i> 5-HTTLPR S+</i> (<i>S/S</i>,<i> S/L</i><sub><i>G</i></sub>,<i> L</i><sub><i>G</i></sub><i>/L</i><sub><i>G</i></sub>) polymorphisms were significantly higher in opiate-dependent patients (χ<sup>2</sup> = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the <i>TPH1 A218C A/C</i> and <i>5-HTTLPR S+</i> gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. <b><i>Conclusions:</i></b> Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.
DOI: 10.6084/m9.figshare.5129635.v1
title: Supplementary Material for: Early Blood Pressure Reduction in Acute Ischemic Stroke with Various Severities: A Subgroup Analysis of the CATIS Trial

description: <b><i>Background:</i></b> Clinical trials have generally showed a neutral effect of blood pressure (BP) reduction on clinical outcomes among acute ischemic stroke patients. We conducted a prespecified subgroup analysis to assess whether disease severity modifies the effect of early antihypertensive treatment on death and disability among patients with acute ischemic stroke. <b><i>Methods:</i></b> In the China Antihypertensive Trial in Acute Ischemic Stroke, 4,071 patients with acute ischemic stroke and elevated BP were randomly assigned to receive antihypertensive treatment or to discontinue all hypertension medications within 48 h of symptom onset. The primary outcome was a combination of death and major disability at 14 days or hospital discharge. In this subgroup analysis, participants were categorized into 3 groups according to their baseline NIH Stroke Scale (NIHSS) scores (0-4, 5-15, or ≥16). <b><i>Results:</i></b> At 24 h after randomization, mean systolic BP differences (95% CIs) were -8.5 (-10.0 to -7.1), -9.8 (-11.4 to -8.3), and -9.1 (-14.4 to -3.8) mm Hg between the treatment and control groups (all p values &lt;0.001) for patients with a baseline NIHSS score of 0-4, 5-15, and ≥16, respectively. At day 7 after randomization, the corresponding mean systolic BP differences were -9.3 (-10.5 to -8.2), -9.1 (-10.3 to -7.8), and -10.1 (-15.1 to -5.1) mm Hg between the treatment and control groups (all p values &lt;0.001). The primary outcome was not significantly different between the treatment and control groups at day 14 or hospital discharge among all NIHSS subgroups (p value for homogeneity = 0.66). ORs (95% CI) associated with treatment were 1.14 (0.87-1.49, p = 0.33), 1.04 (0.86-1.25, p = 0.70), and 0.67 (0.18-2.44, p = 0.54) for patients with a baseline NIHSS score of 0-4, 5-15, and ≥16, respectively. The composite outcome of death and major disability at 3-month follow-up did not differ between the 2 comparison groups for all NIHSS subgroups. In addition, vascular events and recurrent stroke were not significantly different between the 2 comparison groups at the 3-month follow-up visit among all NIHSS subgroups except that there was a suggestive risk reduction for recurrent stroke among those with an NIHSS score of 5-15 (OR 0.45, 95% CI 0.20-0.99, p = 0.05). <b><i>Conclusion:</i></b> Early BP reduction with antihypertensive medications did not reduce or increase the risk of death, major disabilities, recurrent instances of stroke, and vascular events in acute ischemic stroke patients with a variety of disease severities.
DOI: 10.6084/m9.figshare.5129620
title: Supplementary Material for: Treatment Satisfaction in Psoriasis: Development and Use of the PsoSat Patient Questionnaire in a Cross-Sectional Study

description: <b><i>Introduction:</i></b> Evidence supports the potential value of matching patient preferences to treatment recommendations. The aim of the study was to design and validate a questionnaire on treatment satisfaction for clinical decision-making. <b><i>Methods:</i></b> We performed a comprehensive literature search identifying measurable indicators. The complete item pool was condensed to a core set by a multidisciplinary expert panel and tested in a multicentre, observational, cross-sectional study. <b><i>Results:</i></b> The questionnaire consisted of 8 questions, rated on a 5-point Likert scale. In total, 213 dermatology centres included 2,084 patients. The mean disease duration was 19 years. A majority of patients (82.8%) was moderately to very satisfied. 108 patients (5.8%) felt to be bothered by side effects, and 32.1% ascertained that the current therapy had been conducted for too long without success. <b><i>Discussion:</i></b> The PsoSat Questionnaire was shown to be a reliable and valid instrument for measuring therapy-related satisfaction. Further research on its implementation in clinical decision-making is necessary to finally evaluate the benefit of this tool.
DOI: 10.6084/m9.figshare.5129626
title: Supplementary Material for: Relative Brain Size and Its Relation with the Associative Pallium in Birds

description: Despite growing interest in the evolution of enlarged brains, the biological significance of brain size variation remains controversial. Much of the controversy is over the extent to which brain structures have evolved independently of each other (mosaic evolution) or in a coordinated way (concerted evolution). If larger brains have evolved by the increase of different brain regions in different species, it follows that comparisons of the whole brain might be biologically meaningless. Such an argument has been used to criticize comparative attempts to explain the existing variation in whole-brain size among species. Here, we show that pallium areas associated with domain-general cognition represent a large fraction of the entire brain, are disproportionally larger in large-brained birds and accurately predict variation in the whole brain when allometric effects are appropriately accounted for. While this does not question the importance of mosaic evolution, it suggests that examining specialized, small areas of the brain is not very helpful for understanding why some birds have evolved such large brains. Instead, the size of the whole brain reflects consistent variation in associative pallium areas and hence is functionally meaningful for comparative analyses.
DOI: 10.6084/m9.figshare.5129629.v1
title: Supplementary Material for: <b><i>TPH1</i></b> and <b><i>5-HTTLPR</i></b> Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence

description: <b><i>Background:</i></b> Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, <i>TPH1 A218C</i> (rs1800532) and <i>5-HTT</i>-linked promoter region <i>(5-HTTLPR)</i> (rs25531), are differently associated with alcohol or opiate dependence. <b><i>Methods:</i></b> Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of <i>TPH1 A218C</i> and <i>5-HTTLPR</i> polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. <b><i>Results:</i></b> The genotype frequencies of the <i>TPH1 A218C</i> polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the<i> 5-HTTLPR S+</i> (<i>S/S</i>,<i> S/L</i><sub><i>G</i></sub>,<i> L</i><sub><i>G</i></sub><i>/L</i><sub><i>G</i></sub>) polymorphisms were significantly higher in opiate-dependent patients (χ<sup>2</sup> = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the <i>TPH1 A218C A/C</i> and <i>5-HTTLPR S+</i> gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. <b><i>Conclusions:</i></b> Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.
DOI: 10.6084/m9.figshare.5129632.v1
title: Supplementary Material for: Trends and Outcomes of Severe Sepsis in Patients on Maintenance Dialysis

description: <b><i>Background:</i></b> Though the incidence of severe sepsis is rising, there is a lack of contemporary information regarding the epidemiology and outcomes of severe sepsis in those on maintenance dialysis. The objectives of this study were to measure the incidence and outcomes of severe sepsis in those on maintenance dialysis. <b><i>Methods:</i></b> Using data from Nationwide Inpatient Sample database from 2005 to 2010, we included all hospitalizations of adults with severe sepsis based on the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. Those on maintenance dialysis were identified by ICD-9-CM codes. We calculated incidence of severe sepsis and mortality. We used logistic regression to assess independent effect of maintenance dialysis status on mortality. <b><i>Results:</i></b> Of the estimated 5,000,152 hospitalizations with severe sepsis, 322,734 (6.4%) were on maintenance dialysis. The unadjusted incidence of severe sepsis was 145.4 per 1,000 in those on maintenance dialysis in comparison to 3.5 per 1,000 in the general population. Mortality was higher in those with severe sepsis (30.3 vs. 26.2%; p &lt; 0.001). Maintenance dialysis is an independent predictor of death in those with severe sepsis (OR 1.26; 95% CI 1.23-1.29). <b><i>Conclusions:</i></b> Hospitalizations with severe sepsis are more prevalent and associated with poor outcomes in those on maintenance dialysis.
DOI: 10.6084/m9.figshare.5129614
title: Supplementary Material for: Captive Conditions of Pet Lemurs in Madagascar

description: Live extraction of wildlife is a threat to biodiversity and can compromise animal welfare standards. Studies of the captive environments and welfare of pet primates are known, but none has focused on Madagascar. We aimed to expand knowledge about the captive conditions of pet lemurs in Madagascar. We hypothesized that captive lemurs would often be kept in restrictive settings, including small cages, would be fed foods inconsistent with their natural diets and, as a result, would be in bad physical or psychological health. Data were collected via a web-based survey (n = 253 reports) and from the websites and social media pages of 25 hotels. Most lemurs seen by respondents were either kept on a rope/leash/chain or in a cage (67%), though some lemurs were habituated and were not restrained (28%). Most of the time (72%) cages were considered small, and lemurs were rarely kept in captivity together with other lemurs (81% of lemurs were caged alone). Pet lemurs were often fed foods inconsistent with their natural diets, and most (53%) were described as being in bad health. These findings point to a need to undertake outreach to pet lemur owners in Madagascar about the captivity requirements of primates.
DOI: 10.6084/m9.figshare.5129611
title: Supplementary Material for: Patient Adherence to Biologic Agents in Psoriasis

description: <b><i>Background:</i></b> Low adherence to therapies in psoriasis decreases treatment outcomes and increases the total health care costs. In spite of the wide use of biologic agents, patients' adherence to these drugs has not been extensively investigated. <b><i>Objective:</i></b> The aim of this study is to measure adherence to the biologic drugs in a population of patients treated for psoriasis vulgaris using the medication possession ratio (MPR) index and to survey patients' attitudes to the treatment. <b><i>Methods:</i></b> This is a single-center study on 247 patients with psoriasis vulgaris treated with adalimumab (n = 113), etanercept (n = 39), and ustekinumab (n = 95). MPR calculation was calculated monthly based on the hospital records documenting the dispensing of biologics to the patients. Clinical data [Psoriasis Area and Severity Index (PASI), Dermatology Life Quality Index (DLQI), presence of psoriatic arthritis, concomitant treatment, and cause for treatment discontinuation] were obtained from the national database DERMBIO. Patients' attitudes and beliefs were measured using the Medication Adherence Rating Scale (MARS). <b><i>Results:</i></b> A total of 93.5% of all patients had an MPR ≥0.8, indicating very good adherence. MPR was independent of patients' age, gender, median PASI or DLQI score, concomitant diagnosis of psoriatic arthritis, or treatment with methotrexate. MPR for etanercept was slightly lower than that for ustekinumab and adalimumab. The MARS questionnaire documented satisfactory understanding of the treatment and its adverse effects, and positive attitudes to the treatment. <b><i>Conclusion:</i></b> Adherence to biologic therapies is very high in patients with psoriasis, which is consistent with a positive attitude to the treatment.
DOI: 10.6084/m9.figshare.5129617
title: Supplementary Material for: Rat Osteosarcoma Cells as a Therapeutic Target Model for Osteoregeneration via Sclerostin Knockdown

description: There are various conceptually different strategies to improve bone regeneration and to treat osteoporosis, each with distinct inherent advantages and disadvantages. The use of RNA interference strategies to suppress the biological action of catabolic factors or antagonists of osteogenic proteins is promising, and such strategies can be applied locally. They are comparably inexpensive and do not suffer from stability problems as protein-based approaches. In this study, we focus on sclerostin, encoded by the SOST gene, a key regulator of bone formation and remodeling. Sclerostin is expressed by mature osteocytes but also by late osteogenically differentiated cells. Thus, it is difficult and requires long-term cultures to investigate the effects of SOST silencing on the expression of osteogenic markers using primary cells. We, therefore, selected a rat osteosarcoma cell line, UMR-106, that has been shown to express SOST and secrete sclerostin in a comparable fashion as late osteoblasts and osteocytes. We investigated the effects of differentiating supplements on SOST expression and sclerostin secretion in UMR-106 cells and found that addition of 100 ng/ml of bone morphogenetic protein (BMP)-2 strongly induced sclerostin secretion, whereas dexamethasone inhibited secretion. Effects of silencing SOST in UMR-106 cells cultured in various differentiation media including BMP-2 and/or dexamethasone were determined next with the aim to find promising test conditions for a readout system for the evaluation of future small interfering RNA release formulations for local induction of bone formation. We found a direct correlation between attenuated SOST expression and an increase in the osteogenic potential of UMR-106 cells. The combination of SOST silencing and BMP-2 could synergistically improve osteogenic factors. A lowered proliferation rate in silenced groups may indicate a faster switch to differentiation.
DOI: 10.6084/m9.figshare.5129608
title: Supplementary Material for: Prevalence of Skin and Skin-Related Diseases in the Rochester Epidemiology Project and a Comparison with Other Published Prevalence Studies

description: In Olmsted County, Minn., USA, reliable, population-based epidemiologic research studies can be performed because of a unique medical records linkage system, the Rochester Epidemiology Project (REP). Our objective was to summarize the epidemiologic data describing the prevalence of skin and skin-related diseases derived from the REP and to compare the findings with those from other studies worldwide. Retrospectively, we reviewed the results of population-based REP studies reporting the prevalence of skin and skin-related diseases over more than 4 decades and compared them to other published prevalences globally. Prevalences from the REP reported per 100,000 persons were as follows: hidradenitis suppurativa, 130.0; psoriasis, 700.0; psoriatic arthritis in 1992, 100.0, and in 2000, 160.0; Behçet disease, 5.2; scleroderma, 13.8; dermatomyositis, 21.42; systemic lupus erythematosus (SLE), from 30.5 to 122.0 suspected SLE, 32.8; combined SLE, 41.8; discoid lupus erythematosus, 27.6, and cutaneous lupus erythematosus, 70.4 and 73.2 (from 2 studies). Many of the population-based prevalences of specific skin and skin-related diseases derived from the REP are different from those estimated globally. Suggested reasons for disparity in the prevalences globally may include differences in the type of reported prevalence, study methodology, geographic areas, ethnic groups, age distribution, and socioeconomic status.
DOI: 10.6084/m9.figshare.5129599
title: Supplementary Material for: Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

description: <b><i>Background:</i></b> Thyroid cancer is the most common endocrine gland malignancy. Advances in understanding the genetic basis for thyroid cancer revealed the potential involvement of several genes in the formation of thyroid tumors. Mutations in the gene coding for succinate dehydrogenase subtype B <i>(SDHB)</i> have been implicated in papillary thyroid cancer (PTC). Succinate dehydrogenase (SDH) is a heterotetrameric protein composed of four subunits, <i>SDHA,</i><i>SDHB,</i><i>SDHC,</i> and <i>SDHD,</i> and participates in both the electron transport chain and the tricarboxylic acid cycle. The aim of the study was to evaluate the association between variants in the <i>SDHA,</i><i>SDHB,</i><i>SDHC,</i> and <i>SDHD </i>genes and familiar PTC in a large Brazilian family. <b><i>Method:</i></b> Four patients with PTC, 1 patient with PTC and gastrointestinal stromal tumor (GIST), 1 patient with GIST, and their relatives - several of them with different thyroid problems - from a large Brazilian family were screened for genetic variations of <i>SDHx</i> genes with the use of polymerase chain reaction-single-stranded conformational polymorphism and direct sequencing. <b><i>Results:</i></b> Only one rare variation in <i>SDHA</i> was found in some of the family members, but not segregating with the disease. No other genetic variants of these genes were detected in the family members that presented with PTC and/or GIST. <b><i>Conclusion:</i></b> Familiar PTC and a GIST were not associated with <i>SDHx </i>mutations; additional genetic defects, yet unknown, may be responsible for the development of tumor.
DOI: 10.6084/m9.figshare.5129602
title: Supplementary Material for: Isotetrandrine Reduces Astrocyte Cytotoxicity in Neuromyelitis Optica by Blocking the Binding of NMO-IgG to Aquaporin 4

description: <b><i>Objective:</i></b> Neuromyelitis optica (NMO) is a severe neurological demyelinating autoimmune disease that affects the optic nerves and spinal cord with no cure and no FDA-approved therapy. Research over the last decade revealed that the binding of NMO-IgG to the water channel protein astrocyte aquaporin 4 (AQP4) might be the primary cause of NMO pathogenesis. The purpose of this study was to identify potential blockers of NMO-IgG and AQP4 binding. <b><i>Methods:</i></b> We developed a two-step screening platform consisting of a reporter cell-based high-throughput screen assay and a cell viability-based assay. Purified NMO-IgG from NMO patient serum and transfected Chinese hamster lung fibroblast V79 cells stably expressing human M23-AQP4 were used for primary screening of 40,000 small molecule fractions from 500 traditional Chinese herbs. <b><i>Results:</i></b> Thirty-six positive fractions were identified, of which 3 active fractions (at 50 μg/ml) were found to be from the same Chinese traditional herb <i>Mahonia japonica </i>(Thunb.). A bioactivity-guided method based on a primary screening assay for blocking activity led to the isolation of an active single natural compound, isotetrandrine, from the 3 fractions. Our immunofluorescence staining results showed that isotetrandrine can block NMO-IgG binding to AQP4 without affecting the expression and function of AQP4. It can also inhibit NMO-IgG binding to astrocyte AQP4 in NMO patient sera and block NMO-IgG-dependent complement-mediated cytotoxicity with the IC<sub>50</sub> at ∼3 μM. <b><i>Conclusions:</i></b> The present study developed a cell-based high-throughput screen to identify small molecule inhibitors for NMO-IgG and AQP4 binding, and suggests a potential therapeutic value of isotetrandrine in NMO.