bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetics of coronary heart disease: towards causal mechanisms, novel drug targets and more personalized prevention
Authors: Orho‐Melander M. 
Published: October 2015

AbstractCoronary heart disease (CHD) is an archetypical multifactorial disorder that is influenced by genetic susceptibility as well as both modifiable and nonmodifiable risk factors, and their interactions. Advances during recent years in the field of multifactorial genetics, in particular genomewide association studies (GWASs) and their meta‐analyses, have provided the statistical power to identify and replicate genetic variants in more than 50 risk loci for CHD and in several hundreds of loci for cardiometabolic risk factors for CHD such as blood lipids and lipoproteins. Although for a great majority of these loci both the causal variants and mechanisms remain unknown, progress in identifying the causal variants and underlying mechanisms has already been made for several genetic loci. Furthermore, identification of rare loss‐of‐function variants in genes such as PCSK9, NPC1L1, APOC3 and APOA5, which cause a markedly decreased risk of CHD and no adverse side effects, illustrates the power of translating genetic findings into novel mechanistic information and provides some optimism for the future of developing novel drugs, given the many genes associated with CHD in GWASs. Finally, Mendelian randomization can be used to reveal or exclude causal relationships between heritable biomarkers and CHD, and such approaches have already provided evidence of causal relationships between CHD and LDL cholesterol, triglycerides/remnant particles and lipoprotein(a), and indicated a lack of causality for HDL cholesterol, C‐reactive protein and lipoprotein‐associated phospholipase A2. Together, these genetic findings are beginning to lead to promising new drug targets and novel interventional strategies and thus have great potential to improve prevention, prediction and therapy of CHD.
Low Quality of Life and Depressive Symptoms as an Independent Risk Factor for Erectile Dysfunction in Patients with Obstructive Sleep Apnea
Authors: Jeon Yung Jin , Yoon Dae Wui , Han Doo Hee , Won Tae-Bin , Kim Dong-Young , Shin Hyun-Woo 
Published: October 2015

Abstract

Introduction
Accumulating evidence indicates that obstructive sleep apnea (OSA) is associated with a high prevalence of erectile dysfunction (ED), but the factors that predict the risk of ED in OSA patients have yet to be defined clearly.

Aims
The aims of the present study were to investigate the clinical characteristics of OSA patients with ED and to identify plausible predictors of ED.

Methods
The present cross-sectional analysis included 713 male patients who visited Seoul National University Hospital for snoring and/or daytime sleepiness from 2006 to 2014. An in-laboratory polysomnography procedure was conducted to obtain objective recordings of OSA and other sleep parameters.

Main Outcome Measures
The demographic data of all patients were obtained, and each patient completed all requirements of the following questionnaires: the Calgary Sleep Apnea Quality of Life Index (SAQLI), the Korean version of the International Index of Erectile Function (KIIEF-5), the Beck Depression Inventory (BDI), and the Epworth Sleepiness Scale (ESS). ED and OSA were defined as a KIIEF-5 &lt; 21 and a respiratory disturbance index (RDI) ≥ 5, respectively. Depressive symptoms were defined as a BDI ≥ 10.

Results
The frequency of ED did not differ significantly according to OSA severity. In Spearman's correlation analysis, the BDI and the ESS were inversely correlated with the KIIEF-5, whereas the SAQLI was positively correlated with the KIIEF-5. The RDI and the lowest oxygen saturation (SaO2) did not exhibit significant correlations with the KIIEF-5. A multivariate logistic regression analysis adjusted for possible confounding factors showed that ED was independently associated with the SAQLI and depressive symptoms, but there was no significant association of ED with either the RDI or the lowest SaO2.

Conclusions
The present study demonstrated that depressive symptoms and a low quality of life specific to sleep apnea are independent risk factors for ED in OSA patients.
Hepatitis C virus seroprevalence in adults in Africa: a systematic review and meta‐analysis
Authors: Riou J. , Aït Ahmed M. , Blake A. , Vozlinsky S. , Brichler S. , Eholié S. , Boëlle P.‐Y. , Fontanet A. ,   the HCV epidemiology in Africa group
Published: October 2015

AbstractWith the introduction of more efficient treatments for hepatitis C virus (HCV), improved epidemiological information is required at the country level to allow evidence‐based policymaking for elaboration of national strategies and HCV resources planning. We present a systematic review with meta‐analysis of HCV seroprevalence data in adults in African countries. We conducted a systematic review of all HCV seroprevalence estimates reported in African countries from 2000 to 2014 in MEDLINE, AJOL and grey literature. We assessed studies performed in the general population and among blood donors, pregnant women and HIV‐positive patients. A meta‐regression analysis was used to provide adjusted estimates of HCV seroprevalence in the general adult population in each country, accounting for the heterogeneity in sample age structure and population types in the included studies. We identified 775 national‐level estimations, among which 184 were included. Estimates of HCV seroprevalence were produced for 38 countries, in addition to the results from nationwide representative surveys available in Egypt and Libya. Next to Egypt, which clearly stands out, the highest levels of seroprevalence were found in Middle Africa (e.g. Cameroon, Gabon and Angola) and some West African countries (e.g. Burkina Faso, Benin), and the largest absolute numbers of infected adults were found in Nigeria, Ethiopia and Democratic Republic of Congo. This study exposes the diversity of HCV epidemiology among African countries. Egypt and several countries of West and Middle Africa present a HCV burden that will require strong governmental commitment to promote efficient preventive and curative interventions.
Association of Gallbladder Mucocele Histologic Diagnosis with Selected Drug Use in Dogs: A Matched Case‐Control Study
Authors: Gookin J.L. , Correa M.T. , Peters A. , Malueg A. , Mathews K.G. , Cullen J. , Seiler G. 
Published: October 2015

BackgroundThe cause of gallbladder mucocele (GBM) formation in dogs currently is unknown. Many available drugs represent a newer generation of xenobiotics that may predispose dogs to GBM formation.ObjectiveTo determine if there is an association between the histologic diagnosis of GBM in dogs and administration of selected drugs.AnimalsEighty‐one dogs with a histologic diagnosis of GBM and 162 breed, age, and admission date‐matched control dogs from a single referral institution.MethodsMedical records of dogs with GBM and control dogs from 2001 to 2011 were reviewed. Owner verification of drug history was sought by a standard questionnaire. Reported use of heartworm, flea, and tick preventatives as well as nonsteroidal anti‐inflammatory drugs, analgesics, corticosteroids, or medications for treatment of osteoarthritis was recorded.ResultsDogs with GBM were 2.2 times as likely to have had reported use of thyroxine (as a proxy for the diagnosis of hypothyroidism) as control dogs (95% confidence interval [CI], 0.949–5.051), 3.6 times as likely to have had reported treatment for Cushing's disease (95% CI, 1.228–10.612), and 2.3 times as likely to have had reported use of products containing imidacloprid (95% CI, 1.094–4.723). Analysis of a data subset containing only Shetland sheepdogs (23 GBM and 46 control) indicated that Shetland sheepdogs with GBM formation were 9.3 times as likely to have had reported use of imidacloprid as were control Shetland sheepdogs (95% CI, 1.103–78.239).Conclusions and Clinical ImportanceThis study provides evidence for an association between selected drug use and GBM formation in dogs. A larger epidemiologic study of Shetland sheepdogs with GBM formation and exposure to imidacloprid is warranted.
Molecular Genetic Characterization of Thyroid Dyshormonogenesis in a French Bulldog
Authors: Major S. , Pettigrew R.W. , Fyfe J.C. 
Published: October 2015

BackgroundA case of congenital hypothyroidism with goiter (CHG) in a juvenile French bulldog was identified and hypothesized to be caused by dyshormonogenesis of genetic etiology.ObjectivesTo describe case management, unusual phenotypic aspects, and a CHG‐causing mutation in a French bulldog.AnimalsThyroid tissue and blood from a CHG‐affected French bulldog and 4 normal control dogs and buccal brush samples of 125 French bulldogs were studied.MethodsStandard clinical assessment and laboratory tests were applied. Thyroid peroxidase (TPO) iodide oxidation activity was measured in vitro, and TPO protein was assessed on Western blots. Thyroid peroxidase exons and flanking splice sites were amplified from genomic DNA and sequenced. Thyroid peroxidase cDNA was amplified from thyroid RNA and sequenced.ResultsAt 9 months of age, the affected dog had signs of cretinism, but near‐normal skeletal maturation. The enlarged thyroid glands exhibited noninflammatory fibrosis and aberrant follicular organization. Thyroid peroxidase activity and immunocrossreactive protein were undetectable. There was a T>C mutation of the intron 12 splice donor consensus that caused abnormally spliced mRNA, consistent with absent TPO function. The mutant allele was not observed in 125 clinically normal French bulldogs.ConclusionsPresumptive CHG in a French bulldog with unusual clinical presentation is described. Genetic etiology was confirmed by identifying the underlying TPO mutation.
Factors affecting the overwintering of tadpoles in a temperate amphibian
Authors: Walsh P. T. , Downie J. R. , Monaghan P. 
Published: October 2015

AbstractTemperate anuran amphibians generally complete metamorphosis by the autumn of their natal year, but there are an increasing number of reports of overwintering of the larval tadpole phase. We currently know little about the environmental cues that trigger this change in the temporal pattern of development, or if it has any fitness consequences. In an experimental study in the laboratory, we examined the effects of environmental temperature and food availability on the temporal pattern of larval development and the proportion of individuals that overwintered as larvae, in Rana temporaria from the UK. The proportion of overwintering tadpoles increased with lower temperature and food availability. No overwintering tadpoles appeared to arrest their larval development early in the season, contrary to expectations from field observations. Therefore, other factors beyond mean temperature and food availability may be involved in the overwintering phenomenon observed in the field. Furthermore, all overwintering tadpoles were large enough to commence metamorphosis in the autumn, but this was delayed until spring, and on completion of metamorphosis overwintered tadpoles were larger than individuals that had completed metamorphosis within their first summer. While developmental and growth constraints certainly play a role in overwintering as larvae in the laboratory, the larger size on completion of metamorphosis may represent an adaptive advantage for this phenomenon. The extent to which the larger size of overwintering tadpoles is advantageous would presumably vary with local conditions and individual survival prospects.
The large‐X effect in plants: increased species divergence and reduced gene flow on the Silene X‐chromosome
Authors: Hu Xin‐Sheng , Filatov Dmitry A. 
Published: October 2015

AbstractThe disproportionately large involvement of the X‐chromosome in the isolation of closely related species (the large‐X effect) has been reported for many animals, where X‐linked genes are mostly hemizygous in the heterogametic sex. The expression of deleterious recessive mutations is thought to drive the frequent involvement of the X‐chromosome in hybrid sterility, as well as to reduce interspecific gene flow for X‐linked genes. Here, we evaluate the role of the X‐chromosome in the speciation of two closely related plant species – the white and red campions (Silene latifolia and S. dioica) – that hybridize widely across Europe. The two species evolved separate sexes and sex chromosomes relatively recently (~107 years), and unlike most animal species, most X‐linked genes have intact Y‐linked homologs. We demonstrate that the X‐linked genes show a very small and insignificant amount of interspecific gene flow, while gene flow involving autosomal loci is significant and sufficient to homogenize the gene pools of the two species. These findings are consistent with the hypothesis of the large‐X effect in Silene and comprise the first report of this effect in plants. Nonhemizygosity of many X‐linked genes in Silene males indicates that exposure of recessive mutations to selection may not be essential for the occurrence of the large‐X effect. Several possible causes of the large‐X effect in Silene are discussed.
Evidence for the introduction of the Asian red alga Neosiphonia japonica and its introgression with Neosiphonia harveyi (Ceramiales, Rhodophyta) in the Northwest Atlantic
Authors: Savoie Amanda M. , Saunders Gary W. 
Published: October 2015

AbstractThere is currently conflict in the literature on the taxonomic status of the reportedly cosmopolitan species Neosiphonia harveyi, a common red alga along the coast of Atlantic Canada and New England, USA. Neosiphonia harveyi sensu lato was assessed using three molecular markers: COI‐5P, ITS and rbcL. All three markers clearly delimited three genetic species groups within N. harveyi sensu lato in this region, which we identified as N. harveyi, N. japonica and Polysiphonia akkeshiensis (here resurrected from synonymy with N. japonica). Although Neosiphonia harveyi is considered by some authors to be introduced to the Atlantic from the western Pacific, it was only confirmed from the North Atlantic suggesting it is native to this area. In contrast, Neosiphonia japonica was collected from only two sites in Rhode Island, USA, as well as from its reported native range in Asia (South Korea), which when combined with data in GenBank indicates that this species was introduced to the Northwest Atlantic. The GenBank data further indicate that N. japonica was also introduced to North Carolina, Spain, Australia and New Zealand. Despite the fact that all three markers clearly delimited N. harveyi and N. japonica as distinct genetic species groups, the ITS sequences for some N. harveyi individuals displayed mixed patterns and additivity indicating introgression of nuclear DNA from N. japonica into N. harveyi in the Northwest Atlantic. Introgression of DNA from an introduced species to a native species (i.e. ‘genetic pollution’) is one of the possible consequences of species introductions, and we believe this is the first documented evidence for this phenomenon in red algae.
Erythropoietin concentration in acute kidney injury is associated with insulin‐like growth factor‐binding protein‐1
Authors: Yamashita Tetsushi , Noiri Eisei , Hamasaki Yoshifumi , Matsubara Takehiro , Ishii Takeshi , Yahagi Naoki , Nangaku Masaomi , Doi Kent 
Published: October 2015

AbstractAimErythropoietin (EPO) production is stimulated by hypoxia in the kidney. Ischaemic injury plays a crucial role in the pathogenesis of acute kidney injury (AKI). However, EPO concentrations in critically ill patients complicated with AKI have not been evaluated sufficiently. This study was conducted to clarify the factors associated with plasma EPO concentrations in AKI.MethodsThis study prospectively enrolled 98 critically ill adult patients treated at the adult mixed ICU. Plasma EPO, insulin‐like growth factor‐binding protein‐1 (IGFBP‐1), neutrophil gelatinase‐associated lipocalin (NGAL), interleukin‐6 (IL‐6) and urinary N‐acetyl‐β‐D‐glucosaminidase (NAG) were measured on ICU admission.ResultsAcute kidney injury occurred in 42 (42.9%) patients. Significantly higher plasma EPO in the AKI group was detected than in the non‐AKI group (16.13 (9.87–28.47) mIU/mL versus 27.81 (10.16–106.02) mIU/mL, P < 0.05). Plasma IGFBP‐1 in the AKI group was also significantly higher than in the non‐AKI group (19 208 (8820–50 780) pg/mL versus 63 199 (25 289–147 489) pg/mL, P < 0.05). Plasma EPO concentration was negatively correlated with haemoglobin in the non‐AKI group with statistical significance, but not in the AKI group. Multiple logistic regression analysis revealed that plasma EPO in the AKI group was associated significantly with plasma IGFBP‐1 and complication of diabetes mellitus, but not the haemoglobin concentration, partial pressure of arterial oxygen (PaO2), and IL‐6.ConclusionsNot low arterial oxygen tension, haemoglobin concentration, and inflammation evaluated by IL‐6 but plasma IGFBP‐1 was significantly associated with plasma EPO concentration in AKI, suggesting an unknown mechanism related to systemic stress conditions for EPO regulation in AKI.
Exogenous isoprene modulates gene expression in unstressed Arabidopsis thaliana plants
Authors: Harvey Christopher M. , Sharkey Thomas D. 
Published: October 2015

AbstractIsoprene is a well‐studied volatile hemiterpene that protects plants from abiotic stress through mechanisms that are not fully understood. The antioxidant and membrane stabilizing potential of isoprene are the two most commonly invoked mechanisms. However, isoprene also affects phenylpropanoid metabolism, suggesting an additional role as a signalling molecule. In this study, microarray‐based gene expression profiling reveals transcriptional reprogramming of Arabidopsis thaliana plants fumigated for 24 h with a physiologically relevant concentration of isoprene. Functional enrichment analysis of fumigated plants revealed enhanced heat‐ and light‐stress‐responsive processes in response to isoprene. Isoprene induced a network enriched in ERF and WRKY transcription factors, which may play a role in stress tolerance. The isoprene‐induced up‐regulation of phenylpropanoid biosynthetic genes was specifically confirmed using quantitative reverse transcription polymerase chain reaction. These results support a role for isoprene as a signalling molecule, in addition to its possible roles as an antioxidant and membrane thermoprotectant.
Cysteamine in renal transplantation: A report of two patients with nephropathic cystinosis and the successful re‐initiation of cysteamine therapy during the immediate post‐transplant period
Authors: Berryhill Allison , Bhamre Suvarna , Chaudhuri Abanti , Concepcion Waldo , Grimm Paul C. 
Published: October 2015

AbstractNephropathic cystinosis is a rare disorder causing the accumulation of intracellular cystine crystals in tissues. The damage to the proximal tubules of the kidneys results in Fanconi syndrome, and patients with cystinosis experience the progression of chronic kidney disease, resulting in the need for kidney transplantation. Treatment of cystinosis with cysteamine has proven to be effective; however, it has many gastrointestinal side effects that are concerning for transplant specialists during the immediate post‐transplant period. Transplant specialists routinely discontinue cysteamine therapy for up to six weeks to ensure proper immunosuppressant absorption. This practice is worrisome because it communicates the acceptability of lapses of cysteamine treatment to patients. It may be better to re‐initiate cysteamine therapy shortly after transplantation while the patient is followed more closely by the transplant team. This report presents two pediatric patients with nephropathic cystinosis who successfully restarted cysteamine therapy in the immediate post‐transplant period without issue in regard to immunosuppression absorption or gastrointestinal side effects. These cases challenge current practice of discontinuing cysteamine therapy during kidney transplantation, and immediate re‐initiation of cysteamine therapy in cystinosis patients post‐transplant should be considered.
Male aggression, limited female choice and the ontogeny of mating behaviour in the flesh fly Sarcophaga crassipalpis
Authors: Dylan Shropshire J. , Moore Darrell , Seier Edith , Joplin Karl H. 
Published: October 2015

AbstractPrevious work has shown that male flesh flies (Sarcophaga crassipalpis Macquart) exhibit an ontogeny of behaviour from eclosion through sexual maturity that includes extensive changes in the expression of aggressive, non‐aggressive interactive and non‐interactive behaviours. To determine how the presence of a female flesh fly influences the manifestation of these behaviours, male flesh flies of different ages post‐eclosion are paired with same‐age females and their behaviours are monitored in a simple arena during a 50‐min observation period. All flies are socially isolated until pairing. Although the levels of expression of aggressive and non‐aggressive interactive behaviours are depressed relative to previous findings in male‐opponent pairs, the ontogeny of aggression still occurs as indicated by a significant increase, with age, in the agonistic behaviour ‘hold’. Similar to male‐opponent pairs and individual males, the performance by males of the non‐interactive behaviours ‘walking’ and ‘standing’ diminishes, whereas ‘upside‐down’ increases with age. By contrast, ‘grooming’ shows a significant age‐related decline. No courtship behaviours are observed in the males, although the aggressive behaviour ‘hold’ is a significant transition to mating. Females show no obvious courtship or rejection behaviours, although the significant increase in ‘upside‐down’ with age could possibly be a behavioural gateway to mating. The results of this study indicate that extensive age‐related changes encompassing the entire behavioural repertoire are intrinsic to male flesh flies and persist under a variety of different social contexts.
The content and effectiveness of home‐based nursing interventions to promote health and well‐being in families with small children: a systematic review
Authors: Tanninen Hanna‐Mari , Häggman‐Laitila Arja , Pietilä Anna‐Maija , Kangasniemi Mari 
Published: October 2015

BackgroundAlthough the use of preventive family nursing interventions in the home is increased, the literature on the content and effectiveness of these interventions remains fragmented.AimThe aim of this review was to identify and describe the content of preventive family nursing interventions in families' homes and the effectiveness they had on the families' health and well‐being.MethodsA systematic review was conducted using searches on the databases CINAHL, PubMed, Scopus and Web of Science (2003–2014).ResultsAltogether, 2077 articles were identified, and 11 were selected based on the inclusion and exclusion criteria. The main types of interventions were discussions and practical exercises to help parents cope with parenthood and relationships and interactions in the family, together with health, well‐being, social relations and socio‐economic situations. The effectiveness of family interventions was reported in all the selected studies.ConclusionsGreater knowledge of interventions is needed in the future, to develop program content and to explore the validity and reliability of used measurements. In addition, more effort is needed to develop quality appraisal tools for preventive interventions in families' homes.