bluuebunny/crossref_metadata_2025_split huggingface dataset:
Response to growth hormone treatment in Prader–Willi syndrome: Auxological criteria versus genetic diagnosis
Authors: Scheermeyer Elly , Hughes Ian , Harris Mark , Ambler Geoff , Crock Patricia , Verge Charles F , Craig Maria E , Bergman Phil , Werther George , van Driel Mieke , Davies Peter SW , Choong Catherine SY 
Published: June 2013

AimThe Australian Prader‐Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study aims to compare response to GH based on eligibility criteria.MethodsComparative study: 72 children received GH on the basis of short stature or evidence of GH deficiency (pre‐2009: PWS‐SS) and 94 on a genetic diagnosis (post‐2009: PWS‐Dx). We report on mandatory patient data for GH prescription: median and standard deviation score (SDS) for height and body mass index (BMI), waist/height ratio, bone age/chronological age ratio and adverse events. Comparisons were made using non‐parametric tests.ResultsAt baseline, the PWS‐SS cohort was shorter (height SDS: –2.6 vs. –1.1, P < 0.001), had a lower BMI (0.6 vs. 1.5 SDS, P < 0.05) and greater bone age delay (bone age/chronological age: 0.7 vs. 0.9, P < 0.05) than the PWS‐Dx cohort. PWS‐SS parents were shorter (mid‐parental height SDS: −0.13 vs. 0.28, P < 0.005). Mean change in height over 2 years was 0.9 SDS and in BMI using PWS reference standards –0.3 SDSPWS (n = 106) (year 2, height SDS: PWS‐SS = –1.7, PWS‐Dx = 0.1; BMI SDSPWS: PWS‐SS = –1.0, PWS‐Dx = –0.6). The waist/height ratio reduced (PWS‐Dx: 0.60 vs. 0.56, P < 0.05) and bone age delay was unchanged over this period. No serious adverse events were reported.ConclusionsThe PWS‐SS cohort represents a subgroup of the wider PWS‐Dx population; however both cohorts improved height SDS with normalisation of height in the PWS‐Dx cohort and lowering of BMI relative to PWS standards supporting the efficacy of treatment under the current Australian GH programme.
MICROPOROSITY IN THE UPPER JURASSIC ARAB‐D CARBONATE RESERVOIR, CENTRAL SAUDI ARABIA: AN OUTCROP ANALOGUE STUDY
Authors: Eltom H. , Abdullatif O. , Makkawi M. , Abdulraziq A. 
Published: June 2013

This study investigates microporosity in an outcrop analogue of the Upper Jurassic (Kimmeridgian) Arab‐D carbonate reservoir in central Saudi Arabia, integrating outcrop facies analysis, petrographic and SEM data and statistical analyses. At the study location in Wadi Nisah, the outcropping succession includes the uppermost Jubaila Formation and the entire Arab‐D Member of the Arab Formation which together comprise the Arab‐D reservoir interval. The succession is composed of eight lithofacies which can be grouped into three lithofacies associations based on their depositional environments. The stromatoporoid lithofacies association includes dolomitic mudstones, dolomitic wackestones and stromatoporoid wackestones and packstones; the skeletal bank lithofacies association includes burrowed fossiliferous wackestones and peloidal fossiliferous grainstones; and the tidal flat lithofacies association comprises laminated mudstones, wave‐rippled sandy grainstones, and supra‐ and intertidal muds with rip‐up clasts. The lithofacies were classified into mud‐dominated, grain‐dominated and dolostone textural groups.Microporosity and associated permeability in the analysed samples (n = 125 for porosity and n = 61 for permeability) range from 0.11% to 4.8 % and 0.36 to 4.35 mD, respectively. Three types of microporosity were observed: (i) between macro‐ and micro‐sparry calcite crystals; (ii) between micrites of varying morphologies; and (iii) within macro‐sized dolomite crystals. Microporosity distribution was controlled by sparry calcite cement, micrite crystal size, sorting and shape, and the presence of dolomite crystals.Statistical analyses of microporosity and associated permeability show non‐normal distributions for both variables. Coefficients of variation indicated high variability for porosity and permeability, which may be attributed to the high degree of heterogeneity in the pore system. In general there was a poor correlation between microporosity and permeability, but the correlation improved when visualized for individual textural groups.
Natural Infection of Maize by Cucumber Mosaic Virus in China
Authors: Wang Rong , Wang Nian , Ye Ting , Chen Hui , Fan Zaifeng , Zhou Tao 
Published: June 2013

AbstractIn July 2012, symptoms of irregular mosaic stripe and mottle were observed on maize leaves in field in Beijing, China. The causal pathogen was identified to be Cucumber mosaic virus (CMV) based upon reverse transcription‐PCR, enzyme‐linked immunosorbent assay, Western blotting and fulfilment of Koch's postulates. The isolate was named ZMBJ‐CMV. Full sequence of ZMBJ‐CMV RNA3 was determined, and it had the highest identity to that of strain K‐CMV (95.03%) and SD‐CMV (94.96%). Phylogenetic analysis revealed ZMBJ‐CMV clustered with K‐CMV and SD‐CMV in subgroup IB. To our knowledge, this is the first report on the natural infection and phylogenetic analysis of CMV on maize in China.
Parents With Intellectual Disability and Their Children: Advances in Policy and Practice
Authors: Llewellyn Gwynnyth 
Published: June 2013

AbstractIn many countries, women and men with intellectual disability (ID) marry and have children of their own; however, in some countries, this is still taboo. Reproduction and parenting by people with ID is often a “hot” topic. Important questions related to this phenomenon include: Can people with ID provide “good enough” parenting? Can they be taught to be good parents? What about their children; should their children be taken away and cared for by someone else? Issues concerning healthcare that can support parenting, together with what supports are necessary for people to exercise the right to retain their fertility and to have their own family bear examination. In the Asia‐Pacific region, an expanding focus on disability rights, deinstitutionalization, and inclusive policies means that there are more opportunities for people with ID to become parents. The United Nations Convention on the Rights of Persons with Disabilities (CRPD) and the Incheon Strategy to “Make the Right Real” for Persons with Disabilities in Asia and the Pacific region both address these issues. Both promote disability‐inclusive policies and practices derived from a rights‐based framework; the right to reproduction is viewed as a fundamental human right and individual freedom. However, parenting rights and responsibilities are governed by cultural mores and societal traditions. Research primarily from high‐income countries across the last four decades demonstrates that most parents with ID can provide sufficiently good parenting when appropriate supports are in place. Research on this topic to advance policy and practice needs to happen in specific national, geographical, cultural, and societal contexts. Furthermore, policy development is required to meet the goals and targets of the Incheon Strategy. Regional networks and national organizations of and for people with disabilities are challenged to include reproductive care and parenting programs in their policy and advocacy work.
Epilepsy and Intellectual and Developmental Disabilities
Authors: Oguni Hirokazu 
Published: June 2013

AbstractThe co‐occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well‐being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with particular attention is paid to children presenting with coexisting autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Complications in assessment and treatment arising from comorbidities are considered. The most recent and epidemiological survey of children with epilepsy demonstrates that approximately one‐fourth of patients with childhood epilepsy had ID. The prevalence of DD (including ADHD and ASD) in children with epilepsy ranges from 7.1% to 32%, which exceeds that of the general population. Multiple studies have suggested that ADHD in children with epilepsy is largely comorbid rather than cause and effect because it is already present before the onset of epilepsy in 80% of these children. However, the co‐occurrence of epilepsy and ASDs is frequent in people with known organic brain disorders, in which several causal relationships have been speculated. Recent studies have shown that the severity of ID is an important factor in determining the incidence of epilepsy complications in those with ASD, and also the incidence of ASD complications in those with epilepsy. The co‐occurrence of epilepsy, ID, and DD appears common. ID might play a key role in increasing the burden of epilepsy, as well as DD comorbidity. The comorbidity of ID and DD in patients with epilepsy might reduce the seizure threshold, resulting in an increase in the frequency of seizures as well as epileptiform electroencephalographic abnormalities, although evidence is limited and further investigations are warranted.
IASSIDD: Are We Practicing Knowledge Translation Effectively?
Authors: Timmons Vianne 
Published: June 2013

AbstractThe International Association for the Study of Intellectual and Developmental Disabilities (IASSIDD) was established in the early 1960s with the mission of advancing research in the field of intellectual disabilities. This article explores the history and impact of IASSIDD. In particular, it focuses on IASSIDD's role in the area of knowledge translation and promoting research to practice. The history of IASSIDD is documented. Its evolution is analyzed in the context of social, political, and scientific developments across the globe over the past 40 years. There has been an increased focus on evidence‐based decision making and improving practice through research. There is evidence of a shifting emphasis from a primarily medicalized understanding of people with disability and their needs, to a focus that now includes the social, cultural, and economic needs of people with disability and their families. Greater attention is being paid to the construction of policy and service systems that are person‐centered in their orientation, taking into account the priorities and aspirations of individuals, and emphasizing concepts such as inclusion, choice, and self‐determination. Consistent with this, there is growing emphasis on inclusive research processes that value the cocreation of knowledge in partnership with people with disability and their families. IASSIDD and our disability research community need to discover and implement new methods of knowledge generation and translation. As an association that values research to practice, and improving the lives of people with disabilities, IASSIDD plays a major role in refining and promoting these emerging approaches to knowledge generation and translation, and their integration into policy and service developments.
Imbalance between circulating CD4+ regulatory T and conventional T lymphocytes in patients with HBV‐related acute‐on‐chronic liver failure
Authors: Dong Xiaojun , Gong Yu , Zeng Hui , Hao Yu , Wang Xianbo , Hou Jing , Wang Jiefei , Li Juan , Zhu Yueke , Liu Haixia , Han Junyan , Zhou Haiwei , Shen Liwei , Gao Ting , Zhou Tingting , Yang Shuyin , Li Shuting , Chen Yingxuan , Meng Qinghua , Li Hai 
Published: June 2013

AbstractBackground & AimsThe important pathophysiological role of immune dysfunction, especially innate immune dysfunction in patients with acute‐on‐chronic liver failure (ACLF), has been investigated in recent years, but dysregulation of adaptive immunity remains poorly elucidated. The aim of this study was to (i) determine the CD3+ T‐lymphocyte count and the balance between CD4+ regulatory T (Tregs) and conventional T cells (Tconv) in hepatitis B virus (HBV)‐related ACLF patients; (ii) analyse the frequencies of Tregs subpopulations; and (iii) assess the suppressive potency of CD4+ Tregs and each fraction.MethodsWe enrolled 20 HBV‐ACLF patients, 10 septic shock subjects, 20 chronic hepatitis B (CHB) patients and 20 healthy volunteers (HC). Based on flow cytometry, we performed the absolute counting of circulating T lymphocytes and phenotyping of CD4+ Tregs and quantified the effects of Tregs and each subpopulation on Tconv proliferation by CFSE staining.ResultsCompared with CHB patients and HC, we observed an equal reduction in peripheral T subsets in HBV‐ACLF and septic shock subjects; the number of CD4+ Tregs remained unchanged and the Tconv count declined, promoting elevation of the Treg‐to‐Tconv ratio. The frequencies of Treg‐II and ‐III were elevated in HBV‐ACLF. Functional studies showed that the suppressive capacity of Tregs was preserved in the HBV‐ACLF group and Treg‐II came first.ConclusionsSimilar to septic shock subjects, in HBV‐ACLF patients there exists a reduction in CD4+ T lymphocytes, predominantly CD4+ Tconv, and the development of suppressive CD4+ Tregs greatly prevails over Tconv, constituting important characteristics of adaptive immune dysfunction of HBV‐ACLF.
Health‐related quality of life and severity of fatigue in HIV/HCV co‐infected patients before, during, and after antiviral therapy with pegylated interferon plus ribavirin
Authors: Mandorfer Mattias , Payer Berit A. , Scheiner Bernhard , Breitenecker Florian , Aichelburg Maximilian C. , Grabmeier‐Pfistershammer Katharina , Rieger Armin , Trauner Michael , Peck‐Radosavljevic Markus , Reiberger Thomas 
Published: June 2013

AbstractThe aim of this study was to prospectively assess health‐related quality of life (HRQL) and severity of fatigue before, during and after antiviral therapy in HIV/HCV co‐infected patients.Design59 HIV/HCV co‐infected patients receiving pegylated interferon plus ribavirin (PEGIFN+RBV) in the HIVCOPEG study were included in this substudy evaluating the secondary endpoints HRQL and severity of fatigue.MethodsHRQL and severity of fatigue were assessed using SF36 and FSS, respectively. Advanced liver fibrosis was defined as METAVIR F3/F4 or liver stiffness >9.5 kPa.ResultsAt baseline, advanced liver fibrosis was associated with worse physical health. Mental health was impaired in female patients and in patients with a history of intravenous drug abuse, while a history of depression was associated with higher severity of fatigue. Female gender was associated with a more pronounced relative decrease in mental health during therapy. At follow‐up, 24 weeks after the end of therapy, both physical health and fatigue symptoms had improved. Virological response was associated with better physical and mental health, as well as with reduced severity of fatigue. A correlation between anemia grade and the relative impairments in physical health, mental health and fatigue was observed.ConclusionsAntiviral therapy with PEGIFN+RBV impairs physical and mental health and increases severity of fatigue, while virological response is associated with improvements in physical health and fatigue symptoms. The optimization of anemia management is essential for reducing the burden of impaired HRQL and fatigue in HIV/HCV co‐infected patients receiving antiviral therapy with PEGIFN+RBV.
Safety and efficacy of faldaprevir with pegylated interferon alfa‐2a and ribavirin in Japanese patients with chronic genotype‐1 hepatitis C infection
Authors: Nishiguchi Shuhei , Sakai Yoshiyuki , Kuboki Makoto , Tsunematsu Satoshi , Urano Yasuhisa , Sakamoto Wataru , Tsuda Yasuhiro , Steinmann Gerhard , Omata Masao 
Published: June 2013

AbstractBackground & AimsFaldaprevir (BI 201335) is a potent once‐daily (QD) NS3/4A protease inhibitor for the treatment of patients with genotype‐1 (GT‐1) hepatitis C virus (HCV). The aim of this study was to evaluate the safety, pharmacokinetics and efficacy of faldaprevir plus pegylated interferon alfa‐2a (PegIFN) and ribavirin (RBV) in Japanese patients infected with chronic GT‐1 HCV.MethodsPart 1 of this phase II study was a randomized, double‐blind, placebo‐controlled, dose‐ascending study. Treatment‐naïve patients received faldaprevir 120 or 240 mg QD, or placebo, plus PegIFN/RBV for 4 weeks, then PegIFN/RBV alone for 44 weeks. In Part 2 (open label), treatment‐experienced patients received faldaprevir 240 mg QD plus PegIFN/RBV for 4 weeks, then PegIFN/RBV alone for 44 weeks. Efficacy was assessed using sustained virological response (SVR) 24 weeks after treatment completion. The pharmacokinetics, safety and tolerability of faldaprevir were also assessed.ResultsSVR was achieved by 4/6 (67%) treatment‐naïve patients treated with faldaprevir 120 mg QD, 5/6 (83%) patients treated with faldaprevir 240 mg QD and 2/4 (50%) patients who received placebo. Of the treatment‐experienced patients, 3/6 (50%) achieved SVR. Faldaprevir was well tolerated. There was one serious adverse event, which was not considered to be treatment related. Rash and hyperbilirubinaemia were more frequently reported with faldaprevir than with placebo in treatment‐naïve patients, but no cases were severe or serious and none led to discontinuation. Steady‐state plasma concentrations of faldaprevir were reached within 7 days of QD dosing.ConclusionsFaldaprevir with PegIFN/RBV was efficacious and well tolerated, supporting further evaluation of this combination in Japanese patients.
Comparing echosounder efficiency using field observations
Authors: Everson Inigo , Kayanda Robert , Taabu‐Munyaho Anthony 
Published: June 2013

AbstractTime series, using different echosounders or large‐scale multiship acoustic surveys, can be criticized because equipment changes might affect the final results. This criticism was addressed previously by comparing the results from different vessels using echo integration on the target species. The acoustically estimated standing stock of Nile perch (Lates niloticus) in Lake Victoria, East Africa, declined to 50% between successive surveys six months apart in 2007, prompting the criticism that a change in echosounder was responsible for this observation. This concern has been addressed, using data from the same four small localities around the lake, Emin Pasha Gulf, Nyanza Gulf, Speke Gulf and the vicinity of the Sesse Islands, from six surveys, spanning the time when the change in echosounder occurred. For three of the locations, echo integration and single target detections within the first bottom echo indicated no significant differences in echosounder performance. Results from the fourth location, Sesse Islands, showed very low backscatter, possibly due to a layer of detritus on the lake bed. It is concluded that all data are equally comparable, providing echosounders are correctly calibrated with the vessel being stationary, although there may still be differences under operational conditions. Characteristics of intercalibration sites are discussed in this study. The results also show changes in substrate, likely attributable to local environmental changes between surveys.
Co‐immunoprecipitation‐based identification of putative BAX INHIBITOR‐1‐interacting proteins involved in cell death regulation and plant–powdery mildew interactions
Authors: Weis Corina , Pfeilmeier Sebastian , Glawischnig Erich , Isono Erika , Pachl Fiona , Hahne Hannes , Kuster Bernhard , Eichmann Ruth , Hückelhoven Ralph 
Published: June 2013

SummaryThe endoplasmic reticulum (ER)‐resident BAX INHIBITOR‐1 (BI‐1) protein is one of a few cell death suppressors known to be conserved in animals and plants. The function of BI‐1 proteins in response to various biotic and abiotic stress factors is well established. However, little is known about the underlying mechanisms. We conducted co‐immunoprecipitation (co‐IP) experiments to identify Arabidopsis thaliana BI‐1‐interacting proteins to obtain a potentially better understanding of how BI‐1 functions during plant–pathogen interactions and as a suppressor of cell death. Liquid chromatography and tandem mass spectrometry (LC‐MS/MS) identified 95 proteins co‐immunoprecipitated with green fluorescing protein (GFP)‐tagged BI‐1. Five selected candidate proteins, a RIBOPHORIN II (RPN2) family protein, VACUOLAR ATP SYNTHASE SUBUNIT A (VHA‐A), cytochrome P450 83A1 (CYP83A1), H+‐ATPASE 1 (AHA1) and PROHIBITIN 2 (PHB2), were further investigated with regard to their role in BI‐1‐associated processes. To this end, we analysed a set of Arabidopsis mutants in the interaction with the adapted powdery mildew fungus Erysiphe cruciferarum and on cell death‐inducing treatments. Two independent rpn2 knock‐down mutants tended to better support powdery mildew, and a phb2 mutant showed altered responses to cell death‐inducing Alternaria alternata f.sp. lycopersici (AAL) toxin treatment. Two independent cyp83a1 mutants showed a strong powdery mildew resistance phenotype and enhanced sensitivity to AAL toxin. Moreover, co‐localization studies and fluorescence resonance energy transfer (FRET) experiments suggested a direct interaction of BI‐1 with CYP83A1 at the ER.
Microbial communities within field‐collectedCuliseta melanuraandCoquillettidia perturbans
Authors: ANDREWS E. S. , XU G. , RICH S. M. 
Published: June 2013

AbstractAlthough mosquitoes are well‐known vectors of human and animal diseases, pathogens are only minor components of their total endogenous microbial communities. The midguts of many insects, including mosquitoes, contain diverse microbial communities. In this study, we used denaturing gradient gel electrophoresis to identify the diversity of bacteria in field‐collected adult femaleCuliseta melanura(Diptera: Culicidae) (Coquillett) andCoquillettidia perturbans(Diptera: Culicidae) (Walker). Few significant differences in bacterial fauna between the two mosquito species were found, but the results suggest that host life history may be a determinant of the endogenous bacterial communities in mosquitoes. In the present study, the dominant bacteria are frequently identified as major components of other mosquito species' microbial flora, suggesting the establishment of a stable association between the mosquitoes and the microbes after initial acquisition from the environment.
Intermedin/adrenomedullin 2 protects against tubular cell hypoxia‐reoxygenation injury in vitro by promoting cell proliferation and upregulating cyclin D1 expression
Authors: Wang Yanhong , Li Rongshan , Qiao Xi , Tian Jihua , Su Xiaole , Wu Ruiping , Zhang Ruijing , Zhou Xiaoshuang , Li Jiaming , Shao Shan 
Published: June 2013

AbstractAimIntermedin/adrenomedullin 2 (IMD/ADM2) is a newly discovered peptide closely related to adrenomedullin. We recently reported that IMD/ADM2 gene transfer could significantly reduce renal ischaemia/reperfusion injury. In this study, we evaluated the effect of IMD/ADM2 on cell proliferation and regeneration in a cultured rat renal tubular epithelial cell line (NRK‐52E) of hypoxia‐reoxygenation (H/R) injury.MethodsThe H/R model in NRK‐52E cells consisted of hypoxia for 1 h and reoxygenation for 2 h. IMD/ADM2 was overexpressed in NRK‐52E cells using the vector pcDNA3.1‐IMD. Enzyme‐linked immunosorbent assays were used to measure the concentration of IMD/ADM2 in the culture medium, and real‐time PCR and Western blotting were used to determine mRNA and protein levels. In addition, luciferase reporter assays and electrophoretic mobility‐shift assays were performed to measure cyclin D1 promoter activity and transcription factor activity.ResultsWe found that IMD/ADM2 gene transfer markedly promoted cell viability and decreased lactate dehydrogenase (LDH) activity and cell apoptosis compared with that of H/R. IMD/ADM2 increased the phosphorylation of ERK and decreased the phosphorylation of JNK and P38. Furthermore, IMD/ADM2 promoted cell cycle progression with concomitant increases in the levels of cyclin D1 and cyclin E, and these effects were blocked by the inhibition of ERK, or the agonist JNK and P38. IMD/ADM2 also increased cyclin D1 promoter activity and AP‐1 DNA‐binding activity.ConclusionsWe demonstrated that IMD/ADM2 promotes renal cell proliferation and regeneration after renal H/R injury by upregulating cyclin D1 and that this upregulation seems to be mediated by the ERK, JNK, and P38 MAPK signalling pathways.