bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency
Authors: Epcacan Serdar , Menegatti Marzia , Akbayram Sinan , Cairo Andrea , Peyvandi Flora , Oner Ahmet F. 
Published: July 2015

AbstractIntroductionCongenital factor X (FX) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait with an incidence of 1 : 500 000–1 000 000. A total or partial deficiency of FX causes an impairment of clot formation, leading to a haemorrhagic disease, which manifests with bleeding symptoms of different severity, also unprovoked.AimWe analysed the clinical manifestations, laboratory phenotype and genotype in 12 patients from Turkey affected with severe FX deficiency.MethodsProthrombin time (PT), activated partial thromboplastin time (APTT), FX activity (FX:C) and FX antigen level (FX:Ag) were measured, and mutation analysis was performed for all patients.ResultsThe most frequent bleeding episodes in patients were epistaxis and easy bruising (11/12, 91%), followed by haemarthroses (10/12, 83%). FX:C was <1% in 11 patients, and 4% in one. FX:Ag was reduced in all patients, consistent with type II deficiency. Direct sequencing of the factor X gene (F10) identified two different mutations: the novel 33 bp in‐frame deletion p.Thr176_Gln186, c.526_558del, which seems to be associated with milder bleeding symptoms and the c.785G>A, p.Gly262Asp missense mutation (previously reported as Gly222Asp), which is associated with severe bleeding symptoms.ConclusionThe p.Gly262Asp missense mutation was identified in 11 of the 12 patients in this study. Previously published cases on the same p.Gly262Asp mutation were Iranian patients originating from the border between Turkey and Iran suggesting that this mutation may be candidate as a good tool for mutational screening analysis in this area.
Fatigue life dispersion and thermal dissipation investigations for titanium alloy TC17 in very high cycle regime
Authors: Huang Z. Y. , Liu H. Q. , Wang C. , Wang Q. Y. 
Published: July 2015

AbstractTitanium alloy is widely used in aeronautics engineering applications and undertakes high‐frequency fatigue load. Tests are performed to investigate the very high cycle fatigue (VHCF) behaviour of TC17 alloy through ultrasonic fatigue machine at R = 0.1. Thermal dissipation of VHCF for the alloy in 20 kHz frequency is also studied, and a model is proposed to describe the temperature increment of VHCF in the framework of thermodynamics by estimation of the inelastic thermal dissipation at active sites. Failure probability prediction method is used to evaluate the VHCF dispersion based on the multi‐scale method and fatigue thermal dissipation analysis.
Cardiovascular disease (CVD) in Canadians with haemophilia: Age‐Related CVD in Haemophilia Epidemiological Research (ARCHER study)
Authors: Minuk L. , Jackson S. , Iorio A. , Poon M.‐C. , Dilworth E. , Brose K. , Card R. , Rizwan I. , Chin‐Yee B. , Louzada M. 
Published: July 2015

IntroductionImprovements in haemophilia care have increased life expectancy in persons with haemophilia (PWH). This ageing population presents clinicians with management challenges as they develop age‐related comorbidities such as cardiovascular disease (CVD).AimsTo assess the epidemiology of CVD risk factors and events in an ageing Canadian haemophilia population.MethodsA retrospective, multicentre chart review was carried out at five Canadian Hemophilia Treatment Centres. PWH (A and B) ≥35 years old were included and data were extracted on CVD risk factors and events.ResultsData from 294 patients’ charts were analysed including 222 (75.5%) patients with haemophilia A and 72 (24.5%) patients with haemophilia B with a median age at end of follow‐up of 54 years (range = 36–90). Mean follow‐up duration was 5.86 years. Cardiovascular risk factors were common: hypertension 31.3% (n = 90), diabetes mellitus 10.5% (n = 29), smoking 21.8% (n = 61), obesity 27.6% (n = 69), dyslipidaemia 22.4% (n = 65), family history 8.5% (n = 24), antiretroviral therapy 12.2% (n = 36). There were 24 CVD events (8.2% of the population) with a median age at event of 63 years (range = 46–83). Events consisted of coronary artery disease (CAD), 14; cerebrovascular disease, 4; and atrial fibrillation, 7. CAD was treated with coronary artery bypass grafting in three patients and percutaneous coronary intervention in nine patients. CVD events were complicated by six bleeding events (three minor and three major).ConclusionCardiovascular disease risk factors and events are relatively common in PWH. PWH can be safely treated for CVD events with similar procedures as the non‐PWH populations, though specific clotting factor prophylaxis protocols are not well defined.
Late presentation to HIV testing is overestimated when based on the consensus definition
Authors: Sasse A , Florence E , Pharris A , De Wit S , Lacor P , Van Beckhoven D , Deblonde J , Delforge M‐L , Fransen K , Goffard J‐C , Legrand J‐C , Moutschen M , Piérard D , Ruelle J , Vaira D , Vandercam B , Van Ranst M , Van Wijngaerden E , Vandekerckhove L , Verhofstede C ,   Belgian Research AIDS & HIV Consortium (BREACH)
Published: July 2015

ObjectivesIn 2011, a consensus was reached defining “late presenters” (LPs) as individuals presenting for care with a CD4 count < 350 cells/μL or with an AIDS‐defining event, regardless of CD4 count. However, a transient low CD4 count is not uncommon in recent infections. The objective of this study was to investigate how measurements of late presentation change if the clinical stage at the time of diagnosis is taken into account.MethodsCase surveillance data for newly diagnosed patients in Belgium in 1998–2012 were analysed, including CD4 count at diagnosis, the presence of AIDS‐defining events, and recent infections (< 6 months) as reported by clinicians in the case of acute illness or a recent negative test. First, proportions of LPs were calculated according to the consensus definition. Secondly, LPs were reclassified as “nonlate” if infections were reported as recent.ResultsA total of 7949 HIV diagnoses were included in the study. Recent infections were increasingly reported over time, accounting for 8.2% of new infections in 1998 and 37.5% in 2012. The consideration of clinical stage significantly modified the proportion of LPs: 18.2% of men who have sex with men (MSM) diagnosed in 2012 would be classified as LPs instead of 30.9% using the consensus definition (P < 0.001). The proportion of patients misclassified as LPs increased significantly over time: 5% in MSM in 1998 vs. 41% in 2012.ConclusionsThis study suggests that low CD4 counts in recent infections may lead to overestimation of late presentation when applying the consensus definition. The impact of transient CD4 count on late presentation estimates should be assessed and, if relevant, the introduction of clinical stage in the definition of late presentation should be considered.
Short‐term weight gain after antiretroviral therapy initiation and subsequent risk of cardiovascular disease and diabetes: the D:A:D study
Authors: Achhra AC , Mocroft A , Reiss P , Sabin C , Ryom L , de Wit S , Smith CJ , d'Arminio Monforte A , Phillips A , Weber R , Lundgren J , Law MG ,   the D:A:D Study Group
Published: July 2015

ObjectivesThe aim of the study was to assess the impact of the gain in body mass index (BMI) observed immediately after antiretroviral therapy (ART) initiation on the subsequent risk of cardiovascular disease (CVD) and diabetes.MethodsWe analysed data from the Data Collection on Adverse Events of Anti‐HIV Drugs (D:A:D) cohort study. Outcomes were development of (i) CVD (composite of myocardial infarction/stroke/coronary procedure) and (ii) diabetes. The main exposure variable was change in BMI from ART initiation (pre‐ART) to 1 year after initiation (continuous variable) in treatment‐naïve individuals initiating ART with no history of CVD or diabetes (for respective outcomes). BMI [weight (kg)/(height (m))2] was categorized as underweight (< 18.5), normal (18.5–25), overweight (25–30) and obese (> 30). Poisson regression models were fitted stratified for each pre‐ART BMI category to allow for category‐specific estimates of incidence rate ratio (IRR). Models were adjusted for pre‐ART BMI and CD4 count, key known risk factors (time‐updated where possible) and calendar year.ResultsA total of 97 CVD events occurred in 43 982 person‐years (n = 9321) and 125 diabetes events in 43 278 person‐years (n = 9193). In fully adjusted analyses for CVD, the IRR/unit gain in BMI (95% confidence interval) in the first year of ART, by pre‐ART BMI category, was: underweight, 0.90 (0.60–1.37); normal, 1.18 (1.05–1.33); overweight, 0.87 (0.70–1.10), and obese, 0.95 (0.71–1.28) (P for interaction = 0.04). For diabetes, the IRR/unit gain in BMI was 1.11 (95% confidence interval 1.03 to 1.21), regardless of pre‐ART BMI (P for interaction > 0.05).ConclusionsShort‐term gain in BMI following ART initiation appeared to increase the longer term risk of CVD, but only in those with pre‐ART BMI in the normal range. It was also associated with increased risk of diabetes regardless of pre‐ART BMI.
Circulating CD4+CD25highFoxP3+ T‐regulatory cells in patients with atopic dermatitis after narrowband‐ultraviolet B phototherapy
Authors: El Samahy May H. , Attia Enas A. S. , Saad Abeer A. , Mahmoud Eman Y. 
Published: July 2015

AbstractBackgroundPrevious studies showed controversial results regarding CD4+CD25highFoxP3+ T‐regulatory cells (Tregs) in atopic dermatitis (AD) and effect of therapy.MethodsCirculating CD4+CD25highFoxP3+ Tregs were assessed by flow cytometry in 20 controls and 20 patients with AD at baseline and after narrowband ultraviolet B with assessment of disease severity.ResultsPatients showed higher pretreatment T‐effector cells (Teffs) (%) and lower pretreatment Tregs FoxP3 expression% than controls (P = 0.003 and 0.01, respectively). Mild AD showed a lower Tregs/Teffs ratio compared to controls (P = 0.013), while moderate group showed higher Teffs%, and lower Tregs FoxP3 expression% and Tregs/Teffs compared to controls (P = 0.016, 0.007, and 0.009 respectively). The severe group had higher Tregs% and Teffs%, yet with a lower Tregs FoxP3 expression% compared to controls (P < 0.001, P = 0.043, P = 0.044, respectively). There was significant reduction of severity after narrowband ultraviolet B (P = 0.007), with overall significant elevation of Tregs FoxP3 expression% in patients (P = 0.004). All patients' post‐treatment laboratory findings were statistically matched to each other and to controls whatever their previous severity or therapeutic response. The improvement of severity score correlated with the change in both Tregs% and Tregs/Teffs.ConclusionsSignificant reduction in AD disease severity is correlated with the change in Tregs% and Tregs/Teffs.
The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study
Authors: du Toit Jacques P. , Schneider Johann W. , Visser Willem I. , Jordaan Henry F. 
Published: July 2015

AbstractBackgroundTrichoepithelioma (TE) is a benign adnexal neoplasm derived from basal cells in the hair follicle. Solitary TE occurs sporadically as opposed to the multiple familial variant that presents as an autosomal dominant genodermatosis. The solitary variant can be confused with basal cell carcinoma both clinically and histologically. Multiple familial TEs are a cosmetically disfiguring condition with limited satisfactory treatment options.MethodSkin biopsies diagnosed as TE from January 1, 2001, to December 31, 2011, were retrieved from the archives of the Division of Anatomical Pathology (University of Stellenbosch and National Health Laboratory Service, Cape Town, South Africa). Clinical and demographic data were retrieved from the patient records at Tygerberg Academic Hospital. Data of patients with solitary TE and multiple TE were compared.ResultsThirty‐three biopsy specimens were collected from 30 patients. Twenty patients had solitary TE, nine patients had multiple TEs, and one patient had multiple linear TEs. Multiple TEs started to develop in patients at an average age of 17.3 years. Three patients in the study had tumoral TE with a diameter greater than 20 mm. One patient had TE associated with a basal cell carcinoma. Multiple TEs were commonly misdiagnosed clinically as tuberous sclerosis and showed a cribriform histopathological tumor pattern in 80% of cases as compared to only 10% of solitary TEs.ConclusionThe current study was confined to a cohort of patients, in the Western Cape Province of South Africa, whose ethnic and geographic origins were not available. The extrapolation of findings from this study to the rest of the South African population may not be valid. A cribriform growth pattern occurs in the majority of cases of multiple TEs.
A polymorphism in a phosphotyrosine signalling motif of CD229 (Ly9, SLAMF3) alters SH2 domain binding and T‐cell activation
Authors: Margraf Stefanie , Garner Lee I. , Wilson Timothy J. , Brown Marion H. 
Published: July 2015

SummarySignalling lymphocyte activation molecule (SLAM) family members regulate activation and inhibition in the innate and adaptive immune systems. Genome‐wide association studies identified their genetic locus (1q23) as highly polymorphic and associated with susceptibility to systemic lupus erythematosus (SLE). Here we show that the Val602 variant of the non‐synonymous single nucleotide polymorphism (SNP) rs509749 in the SLAM family member CD229 (Ly9, SLAMF3) has a two‐fold lower affinity compared with the SLE‐associated Met602 variant for the small adaptor protein SAP. Comparison of the two variants in T‐cell lines revealed the Val602 variant to be significantly more highly expressed than CD229 Met602. Activation was diminished in cells expressing CD229 Val602 compared with CD229 Met602 as measured by up‐regulation of CD69. There was no correlation between homozygosity at rs509749 and activation in peripheral blood mononuclear cells from healthy donors. These findings identify potential mechanisms by which a single SNP can perturb fine‐tuning in the immune system with significant functional consequences.
Health‐related quality of life and aerobic fitness in people with schizophrenia
Authors: Vancampfort Davy , Guelinckx Hannes , Probst Michel , Stubbs Brendon , Rosenbaum Simon , Ward Philip B. , De Hert Marc 
Published: July 2015

AbstractThe purpose of this cross‐sectional study was to investigate whether aerobic fitness contributes to the health‐related quality of life (HRQoL) in people with schizophrenia, while adjusting for other previously‐established contributory factors. Thirty‐four male (34.1 ± 12.0 years) and 13 female (34.3 ± 9.2 years) participants performed a submaximal Astrand–Rhyming cycle ergometer test and completed the 36‐item Short‐Form Health Survey, the International Physical Activity Questionnaire, and the Psychosis Evaluation tool for Common Use by Caregivers. After controlling for age and sex, illness duration (12.4 ± 11.2 years, r2 = 0.38, P < 0.001), fewer positive (9.3 ± 4.3, r2 = 0.30, P = 0.006) and cognitive (8.4 ± 3.8, r2 = 0.28, P = 0.011) symptoms, and higher aerobic fitness (34.5 ± 8.7 ml O2 min−1 kg−1, r2 = 0.36, P = 0.001) were found to be independent significant predictors of physical HRQoL (mean score 66.6 ± 18.5). However, when all variables were included in the same regression model, only illness duration (P = 0.004) and positive symptoms (P = 0.045) remained significant predictors, while there was a trend (P < 0.10) for age and aerobic fitness. The final model explained 54% of the variability in physical HRQoL. No significant correlates for mental HRQoL (54.9 ± 18.5) were found. People with schizophrenia might improve their physical HRQoL by improving their aerobic fitness. Mental health nurses should assist in facilitating improvements in aerobic fitness through facilitating physical activity participation in patients with schizophrenia.
Un outil de diagnostic et d'action pour la réalisation du travail décent
Authors: WEBSTER Edward , BUDLENDER Deborah , ORKIN Mark 
Published: July 2015

RésuméEn s'appuyant sur les indicateurs identifiés par la Réunion tripartite d'experts sur la mesure du travail décent, réunie en 2008 au BIT, les auteurs élaborent un questionnaire complété par des entretiens approfondis afin d'évaluer la qualité de l'emploi dans la sécurité, l'agriculture et l'hôtellerie‐restauration en Afrique du Sud. Leur outil de diagnostic concerne des travailleurs de secteurs d'activité particuliers considérés individuellement et non la situation nationale. Cette approche permet de suivre les progrès accomplis en matière de travail décent, et de mettre en œuvre des stratégies fondées sur des données probantes afin de combler les déficits de travail décent.
Mesure des effets sur l'emploi des échanges de biens intermédiaires et de produits finis
Authors: JIANG Xiao 
Published: July 2015

RésuméLa croissance des échanges de biens intermédiaires et de services a compliqué la relation entre commerce et division du travail à l'échelle internationale. Pour trente‐neuf pays, l'auteur décompose les effets du commerce sur l'emploi selon leur origine: 1) exportations; 2) importations; 3) part des importations dans les exportations; 4) part des exportations dans les importations; 5) part des importations de pays tiers dans les importations. En 2009, quelque 88 millions d'emplois étaient imputables aux échanges de biens intermédiaires – 14 pour cent des emplois découlant des échanges –, tandis que la part des importations dans les exportations représentait 44 millions d'emplois.
Au Chili, l'emploi progresse en nombre, non en qualité: tout dépend du contrat
Authors: RUIZ‐TAGLE Jaime , SEHNBRUCH Kirsten 
Published: July 2015

RésuméDepuis 1990, les autorités chiliennes s'en remettent à la croissance économique pour créer des emplois, élever les salaires et améliorer les conditions de travail. Les résultats sont contrastés: la qualité de l'emploi n'a pas suivi les progrès quantitatifs en nombre d'emplois et en niveau de salaires. Opposant un cadre réglementaire formellement rigide à la réalité d'un marché du travail flexible, les auteurs soulignent l'importance des conditions d'emploi dans l'évaluation du marché du travail. L'examen des effets des caractéristiques des emplois et des travailleurs sur l'emploi et les revenus montre que leur premier déterminant est la détention d'un contrat de durée indéterminée.
Expression profiling analysis: Uncoupling protein 2 deficiency improves hepatic glucose, lipid profiles and insulin sensitivity in high‐fat diet‐fed mice by modulating expression of genes in peroxisome proliferator‐activated receptor signaling pathway
Authors: Zhou Mei‐Cen , Yu Ping , Sun Qi , Li Yu‐Xiu 
Published: July 2015

AbstractAims/IntroductionUncoupling protein 2 (UCP2), which was an important mitochondrial inner membrane protein associated with glucose and lipid metabolism, widely expresses in all kinds of tissues including hepatocytes. The present study aimed to explore the impact of UCP2 deficiency on glucose and lipid metabolism, insulin sensitivity and its effect on the liver‐associated signaling pathway by expression profiling analysis.Materials and MethodsFour‐week‐old male UCP2−/− mice and UCP2+/+ mice were randomly assigned to four groups: UCP2−/− on a high‐fat diet, UCP2−/− on a normal chow diet, UCP2+/+ on a high‐fat diet and UCP2+/+ on a normal chow diet. The differentially expressed genes in the four groups on the 16th week were identified by Affymetrix gene array.ResultsThe results of intraperitoneal glucose tolerance test and insulin tolerance showed that blood glucose and β‐cell function were improved in the UCP2−/− group on high‐fat diet. Enhanced insulin sensitivity was observed in the UCP2−/− group. The differentially expressed genes were mapped to 23 pathways (P < 0.05). We concentrated on the ‘peroxisome proliferator‐activated receptor (PPAR) signaling pathway’ (P = 3.19 × 10−11), because it is closely associated with the regulation of glucose and lipid profiles. In the PPAR signaling pathway, seven genes (PPARγ, Dbi, Acsl3, Lpl, Me1, Scd1, Fads2) in the UCP2−/− mice were significantly upregulated.ConclusionsThe present study used gene arrays to show that activity of the PPAR signaling pathway involved in the improvement of glucose and lipid metabolism in the liver of UCP2‐deficient mice on a long‐term high‐fat diet. The upregulation of genes in the PPAR signaling pathway could explain our finding that UCP2 deficiency ameliorated insulin sensitivity. The manipulation of UCP2 protein expression could represent a new strategy for the prevention and treatment of diabetes.
Betel quid oral lichenoid lesions: a hospital based cross‐sectional study
Authors: Arya Sugandha , Vengal Manoj , Raju Bina , Patil Neelkant , Sathosker Sujatha , Bateja Sumit , David Jamil 
Published: July 2015

AbstractObjectiveThe aim of this study was to assess the prevalence and risk indicators of betel quid oral lichenoid lesions in chewers.MethodsA total of 1209 chewers were identified and categorized into three main groups based on the type of lesion: betel quid oral lichenoid lesions only, betel quid oral lichenoid lesions in association with quid‐induced other oral mucosal lesions, and no lesions. Multinomial regression analyses were used to determine associations between dependent and independent variables.ResultsBetel quid oral lichenoid lesions were more common in individuals who chewed quid comprising both tobacco and areca nut, and in those who chewed it two to three, or greater than three, times a day. Betel quid oral lichenoid lesions + quid‐induced other oral mucosal lesions were more likely to occur in females, and in individuals who chewed quid containing both tobacco and areca nut, in their processed and unprocessed forms, and greater than three times a day.ConclusionThe prevalence of betel quid oral lichenoid lesions was higher than that reported in previous studies conducted in India. Increase in the frequency and duration of quid chewing was associated with increased likelihood of developing these oral lichenoid lesions.
Will weight loss become a future treatment of hepatocellular adenoma in obese patients?
Authors: Dokmak Safi , Belghiti Jacques 
Published: July 2015

AbstractBackground & AimsAlthough hepatocellular adenoma (HCA) is more frequently observed in obese patients, however, the effect of weight loss as a therapeutic option was never studied.MethodsIn this rapid communication we described our non‐surgical management of large HCA (>5 cm) encountered in patients with morbid obesity. Non‐surgical management consisted mainly of oral contraception withdrawal and weight loss, which was the only option in two patients. All demographics, radiological and histological data were studied. Patients were followed regularly every 6 months.ResultsBetween 2004 and 2013, 116 patients presented with HCA and 15 with morbid obesity (13%) were studied. Five men underwent surgery and females were either operated (period before 2010; n = 5) or proposed to non‐surgical management (period after 2010; n = 5).Weight loss was advocated to all females, including four with residual HCA after resection and to non‐operated patients, including two with haemorrhagic HCA. Four (40%) females showed significant weight loss. In resected patients, weight loss allowed stability (n = 1) or slight regression (n = 1) of residual HCA. In the two patients treated only by weight loss, significant decrease was observed in the weight with significant decrease (>50%) in the size and number of HCA to a non‐surgical size (<5 cm). Severe morbidity was 40% in operated patients and 0% in non‐operated patients. After a follow‐up period of 38 months (18–60), no complication or degeneration was encountered in the non‐operated group.ConclusionLike oral contraception, weight loss should be considered as the first therapeutic option in the management of HCA in obese patients.