bluuebunny/crossref_metadata_2025_split huggingface dataset:
Treatment burden, haemostatic strategies and real world inhibitor screening practice in non‐severe haemophilia A
Authors: Batty Paul , Austin Steve K. , Khair Kate , Millar Carolyn M. , Palmer Ben , Rangarajan Savita , Stümpel Jan‐Phillip , Thanigaikumar Murugaiyan , Yee Thynn T. , Hart Daniel P. 
Published: February 2017

SummaryInhibitor formation in non‐severe haemophilia A is a life‐long risk and associated with morbidity and mortality. There is a paucity of data to understand real‐world inhibitor screening practice. We evaluated the treatment burden, haemostatic strategies, F8 genotyping and inhibitor screening practices in non‐severe haemophilia A in seven London haemophilia centres. In the 2‐year study period, 44% (377/853) patients received at least one haemostatic treatment. Seventy‐nine percent of those treated (296/377) received factor VIII (FVIII) concentrate. F8 genotype was known in 88% (331/377) of individuals. Eighteen per cent (58/331) had ‘high‐risk’ F8 genotypes. In patients with ‘standard‐risk’ F8 genotypes treated on‐demand with FVIII concentrate, 51·3% episodes (243/474) were screened within 1 year. However, poor screening compliance was observed after ‘high‐risk’ treatment episodes. In patients with ‘standard‐risk’ F8 genotypes, 12·3% (28/227) of treatment episodes were screened in the subsequent 6 weeks after surgery or a bleed requiring ≥5 exposure days. Similarly, in the context of ‘high‐risk’ F8 genotypes after any FVIII exposure, only 13·6% (12/88) of episodes were screened within 6 weeks. Further study is required to assess optimal practice of inhibitor screening in non‐severe haemophilia A to inform subsequent clinical decisions and provide more robust prevalence data to further understand the underlying immunological mechanism.
Vegetation and climate changes over the last 30 000 years on the Leizhou Peninsula, southern China, inferred from the pollen record of Huguangyan Maar Lake
Authors: Meng Yuting , Wang Weiming , Hu Jianfang , Zhang Jixiao , Lai Yangjun 
Published: February 2017

A pollen record from Huguangyan Maar Lake documents regional palaeovegetation and palaeoclimate changes in southern China over the last 30 000 years. Huguangyan Maar Lake is located close to the South China Sea (SCS) coastline and is influenced by the East Asian Monsoon (EAM). The pollen assemblages show a succession of vegetation and climate changes. During the Last Glaciation, 30–15.8 cal. ka BP, the Huguangyan area was dominated by subtropical evergreen‐deciduous forest with grassland surrounding the lake, indicating a colder and drier climate than today. During 15.8–11 cal. ka BP, the study area experienced several climatic fluctuations. From 11 to 2 cal. ka BP, the climate shifted to warmer and wetter conditions. After the Holocene Optimum in the early Holocene, the temperature and precipitation decreased. The sediment record of the last 2000 years cannot be used to interpret natural palaeoclimate changes due to the intense anthropogenic influences. Overall, however, the Huguangyan pollen archive highlights the rapid responses of subtropical vegetation to insolation changes in southern China.
Paleo‐fluid expulsion and contouritic drift formation on the Chatham Rise, New Zealand
Authors: Waghorn Kate Alyse , Pecher Ingo , Strachan Lorna J. , Crutchley Gareth , Bialas Jörg , Coffin Richard , Davy Bryan , Koch Stephanie , Kroeger Karsten F. , Papenberg Cord , Sarkar Sudipta ,   SO.226 Scientific Party
Published: February 2017

AbstractThe Chatham Rise is located offshore of New Zealand's South Island. Vast areas of the Chatham Rise are covered in circular to elliptical seafloor depressions that appear to be forming through a bathymetrically controlled mechanism, as seafloor depressions 2–5 km in diameter are found in water depths of 800–1100 m. High‐resolution P‐Cable 3D seismic data were acquired in 2013 across one of these depressions. The seafloor depression is interpreted as a mounded contourite. Our data reveal several smaller buried depressions (<20–650 m diameter) beneath the mounded contourite that we interpret as paleo‐pockmarks. These pockmarks are underlain by a complex polygonal fault system that deforms the strata and an unusual conical feature results. We interpret the conical feature as a sediment remobilization structure based on the presence of stratified reflections within the feature, RMS amplitude values and lack of velocity anomaly that would indicate a nonsedimentary origin. The sediment remobilization structure, polygonal faults and paleo‐depressions are the indicators of the past subsurface fluid flow. We hypothesize that the pockmarks provided the necessary topographic roughness for the formation of the mounded contourites thus linking fluid expulsion and the deposition of contouritic drifts.
Associations of Early Developmental Milestones With Adult Intelligence
Authors: Flensborg‐Madsen Trine , Mortensen Erik L. 
Published: February 2017

The study investigated whether age at attainment of 20 developmental milestones within the areas of language, walking, eating, dressing, social interaction, and toilet training was associated with adult intelligence. Mothers of 821 children of the Copenhagen Perinatal Cohort recorded 20 developmental milestones at a 3‐year examination, and all children were administered the Wechsler Adult Intelligence Scale when they were 20–34 years old. Later attainment of a number of milestones was associated with lower adult IQ with the strongest associations found for those related to language and social interaction. The adjusted full‐scale IQ means were 107.0, 101.8, and 100.6 for being able to form a sentence at less than 24 months, at 24 months, and later than 24 months.
Impact of hormonal contraception and weight loss on high‐density lipoprotein cholesterol efflux and lipoprotein particles in women with polycystic ovary syndrome
Authors: Dokras Anuja , Playford Martin , Kris‐Etherton Penny M. , Kunselman Allen R. , Stetter Christy M. , Williams Nancy I. , Gnatuk Carol L. , Estes Stephanie J. , Sarwer David B. , Allison Kelly C. , Coutifaris Christos , Mehta Nehal , Legro Richard S. 
Published: February 2017

SummaryObjectiveTo study the effects of oral contraceptive pills (OCP), the first‐line treatment for PCOS, on high‐density lipoprotein cholesterol (HDL‐C) function (reverse cholesterol efflux capacity) and lipoprotein particles measured using nuclear magnetic resonance spectroscopy in obese women.DesignSecondary analysis of a randomized controlled trial (OWL‐PCOS) of OCP or Lifestyle (intensive Lifestyle modification) or Combined (OCP + Lifestyle) treatment groups for 16 weeks.PatientsEighty‐seven overweight/obese women with PCOS at two academic centres.MeasurementsChange in HDL‐C efflux capacity and lipoprotein particles.ResultsHigh‐density lipoprotein cholesterol efflux capacity increased significantly at 16 weeks in the OCP group [0·11; 95% confidence interval (CI) 0·03, 0·18, P = 0·008] but not in the Lifestyle (P = 0·39) or Combined group (P = 0·18). After adjusting for HDL‐C and TG levels, there was significant mean change in efflux in the Combined group (0·09; 95% CI 0·01, 0·15; P = 0·01). Change in HDL‐C efflux correlated inversely with change in serum testosterone (rs = −0·21; P = 0·05). In contrast, OCP use induced an atherogenic low‐density lipoprotein cholesterol (LDL‐C) profile with increase in small (P = 0·006) and large LDL‐particles (P = 0·002). Change in small LDL‐particles correlated with change in serum testosterone (rs = −0·31, P = 0·009) and insulin sensitivity index (ISI; rs = −0·31, P = 0·02). Both Lifestyle and Combined groups did not show significant changes in the atherogenic LDL particles.ConclusionsOral contraceptive pills use is associated with improved HDL‐C function and a concomitant atherogenic LDL‐C profile. Combination of a Lifestyle program with OCP use improved HDL‐C function and mitigated adverse effects of OCP on lipoproteins. Our study provides evidence for use of OCP in overweight/obese women with PCOS when combined with Lifestyle changes.
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort
Authors: Ajluni Nevin , Meral Rasimcan , Neidert Adam H. , Brady Graham F. , Buras Eric , McKenna Barbara , DiPaola Frank , Chenevert Thomas L. , Horowitz Jeffrey F. , Buggs‐Saxton Colleen , Rupani Amit R. , Thomas Peedikayil E. , Tayeh Marwan K. , Innis Jeffrey W. , Omary M. Bishr , Conjeevaram Hari , Oral Elif A. 
Published: February 2017

SummaryContextPartial lipodystrophy (PL) is associated with metabolic co‐morbidities but may go undiagnosed as the disease spectrum is not fully described.ObjectiveThe objective of the study was to define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics.DesignCross‐sectional evaluation.ParticipantsTwenty‐three patients (22 with familial, one acquired, 78·3% female, aged 12–64 years) with PL and non‐alcoholic fatty liver disease (NAFLD).MeasurementsGenetic, clinical and laboratory characteristics, body composition indices, liver fat content by magnetic resonance imaging (MRI), histopathological and immunofluorescence examinations of liver biopsies.ResultsSeven patients displayed heterozygous pathogenic variants in LMNA. Two related patients had a heterozygous, likely pathogenic novel variant of POLD1 (NM002691·3: c.3199 G>A; p.E1067K). Most patients had high ratios (>1·5) of percentage fat trunk to percentage fat legs (FMR) when compared to reference normals. Liver fat quantified using MR Dixon method was high (11·3 ± 6·3%) and correlated positively with haemoglobin A1c and triglycerides while leg fat by dual‐energy X‐ray absorptiometry (DEXA) correlated negatively with triglycerides. In addition to known metabolic comorbidities; chronic pain (78·3%), hypertension (56·5%) and mood disorders (52·2%) were highly prevalent. Mean NAFLD Activity Score (NAS) was 5 ± 1 and 78·3% had fibrosis. LMNA‐immunofluorescence staining from select patients (including one with the novel POLD1 variant) showed a high degree of nuclear atypia and disorganization.ConclusionsPartial lipodystrophy is a complex multi‐system disorder. Metabolic parameters correlate negatively with extremity fat and positively with liver fat. DEXA‐based FMR may prove useful as a diagnostic tool. Nuclear disorganization and atypia may be a common biomarker even in the absence of pathogenic variants in LMNA.
Incidence of abnormal liver biochemical tests in hyperthyroidism
Authors: Lin Tiffany Y. , Shekar Anshula O. , Li Ning , Yeh Michael W. , Saab Sammy , Wilson Mark , Leung Angela M. 
Published: February 2017

SummaryObjectiveAbnormal serum liver function tests are common in patients with untreated thyrotoxicosis, even prior to the initiation of antithyroidal medications that may worsen the severity of the abnormal serum liver biochemistries. There is a wide range of the incidence of these abnormalities in the published literature. The aim of this study was to assess the risks factors and threshold of thyrotoxicosis severity for developing an abnormal liver biochemical test upon the diagnosis of new thyrotoxicosis.DesignSingle‐institution retrospective cohort study.PatientsPatients of ≥18 years old receiving medical care at a large, academic, urban US medical centre between 2002–2016.MeasurementsInclusion criteria were a serum thyroid stimulating hormone (TSH) concentration of <0·3 mIU/l or ICD‐9 code for thyrotoxicosis, with thyrotoxicosis confirmed by either a concurrent elevated serum triiodothyronine (T3) or thyroxine (T4) concentration ([total or free] within 3 months), and an available liver biochemical test(s) within 6 months of thyrotoxicosis. The biochemical liver tests assessed were serum aspartate transaminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (AP), gamma‐glutamyltransferase (GGT), total bilirubin, and conjugated bilirubin concentrations.ResultsIn this cohort of 1514 subjects, the overall incidence of any biochemical liver test abnormality within 6 months of thyrotoxicosis was 39%. An initial serum TSH concentration <0·02 mIU/l, male gender, and African‐American race were significant predictors of an abnormal serum liver biochemical test within 6 months of the diagnosis of new‐onset untreated thyrotoxicosis.ConclusionsThis study identifies risk factors for patients who develop an abnormal serum liver biochemical test result within 6 months of a diagnosis of untreated thyrotoxicosis.
How do immigrant parents of children with complex health needs manage to cope in their daily lives?
Authors: Kvarme Lisbeth Gravdal , Alebertini Früh Elena , Lidèn Hilde 
Published: February 2017

AbstractDaily life with children who have complex health needs can be stressful for parents. Immigrant parents are vulnerable to stress because they may lack language skills and knowledge about the health care system and have limited social networks. In this study, we focus on how immigrant parents of children with complex health needs use emotion‐focused and problem‐focused coping strategies to manage their daily life, and how their self‐efficacy and the immigration process may affect their coping. This qualitative study had an exploratory design with individual and focus group interviews. The sample comprised 27 parents—18 mothers and 9 fathers—from Pakistan, Poland, and Vietnam. The findings indicated that the parents' love for their child helps them to cope in their daily life. Newly arrived migrants, single mothers with a severely ill child who lacked support and migrant parents with language difficulties struggle to cope. Some of the stress is related to personal, social and structural problems, and to the insufficient resources available to meet the child's needs. The parents used both emotion‐focused and problem‐focused coping strategies. The parents noted that access to both universal and selective welfare services is an important factor that contributed to their self‐efficacy and coping.
Emergency out‐of‐home placements in Norway: Parents' experiences
Authors: Storhaug Anita Skårstad , Kojan Bente Heggem 
Published: February 2017

AbstractThe number of emergency placements of children has increased rapidly in Norway over the recent years. Nevertheless, there is little knowledge about how parents experience the processes involved in emergency placements. We conducted 64 survey interviews with parents who have experienced this kind of placement of their children. One third of the participants' children had received interventions prior to the emergency placement. Another third were known by Child Welfare Services (CWS) through reports of concern, which were dismissed without interventions and, in some cases, without investigation. The final third had no prehistory from CWS ahead of the emergency placement. A large proportion of the participants emphasized that they had experienced problems for a long time and had earlier requests for help unmet. Another large group of parents notified CWS themselves, and some of them wanted their child emergency placed. On the basis of parents' experiences, we suggest different implications for practice: (a) CWS should be more thorough in their investigation and assessment of the families, both when it comes to reports of concern and evaluation of initiated interventions. (b) Planned placement should be promoted to a greater degree, wherever possible. (c) A greater emphasis on follow‐up of parents after emergency placements is needed.
Signal Peptide Peptidase, Encoded by HM13, Contributes to Tumor Progression by Affecting EGFRvIII Secretion Profiles in Glioblastoma
Authors: Wei Jian‐Wei , Cai Jin‐Quan , Fang Chuan , Tan Yan‐Li , Huang Kai , Yang Chao , Chen Qun , Jiang Chuan‐Lu , Kang Chun‐Sheng 
Published: February 2017

SummaryBackground and AimsEGFRvIII is the most prevalent glioblastoma mutation, occurring in more than 25% of glioblastomas. EGFRvIII cells release microvesicles that contain proteins, miRNAs, and mRNAs that enhance the growth and survival of surrounding tumor cells. However, little is known about the maturation process and regulatory mechanisms of secreted vesicles in EGFRvIII cells.MethodsSignal peptide peptidase (SPP) provides a fascinating mechanism for protein cleavage and subsequent dislocation in the endoplasmic reticulum transmembrane domain.ResultsIn this study, we reported that SPP facilitates the secretion of cytokines in vitro and promotes tumor progression in mice. Human cytokine antibody arrays revealed that EGFRvIII secreted higher levels of cytokines, but these levels were significantly reduced following SPP knockdown, suggesting that cytokines in EGFRvIII secretion profiles play important roles in GBM development. Identical results were confirmed in intracellular maturation tracking of TGF‐β1 in mouse serum. Clinically, analyses of GBM patient data from the database revealed that HM13 expression was closely related to patient prognosis and survival, suggesting an influence by the secreted vesicles of EGFRvIII tumor cells.ConclusionsCollectively, our study identifies that SPP affects EGFRvIII secretion profiles and thus promotes tumor progression, providing further understanding of the formation of secreted vesicles and driving role of EGFRvIII in GBM.
Behavioural treatment strategies improve adherence to lifestyle intervention programmes in adults with obesity: a systematic review and meta‐analysis
Authors: Burgess E. , Hassmén P. , Welvaert M. , Pumpa K.L. 
Published: February 2017

SummaryPoor adherence to lifestyle intervention remains a key factor hindering treatment effectiveness and health outcomes for adults with obesity. The aim of this systematic review and meta‐analysis is to determine if behavioural treatment strategies (e.g. goal setting, motivational interviewing, relapse prevention, cognitive restructuring etc.) improve adherence to lifestyle intervention programmes in adults with obesity. Randomized controlled trials that investigated the use of behavioural treatment strategies in obesity management were identified by systematically reviewing the literature within Medline, PsycINFO, CINAHL, SPORTDiscus and Web of Science from their inception to August 2016. This meta‐analysis shows that behavioural treatment interventions have a significant positive effect on session attendance (percentage) and physical activity (total min/week) in adults with obesity (M = 17.63 (95% confidence interval (CI) = 10.77, 24.50), z =5.0337, P < 0.0001 and M = 105.98 (95% CI = 58.64, 153.32), z =4.3878, P < 0.0001, respectively). This meta‐analysis of randomized controlled trials provides evidence that behavioural treatment strategies improve adherence to lifestyle intervention programmes in adults with obesity. These strategies should be routinely incorporated into lifestyle intervention, obesity management and weight loss programmes with the aim of improving engagement and adherence. If adherence were improved, treatment effectiveness, health outcomes and the ultimate burden of chronic disease could also be improved.
Verbal–spatial IQ discrepancies impact brain activation associated with the resolution of cognitive conflict in children and adolescents
Authors: Margolis Amy E. , Davis Katie S. , Pao Lisa S. , Lewis Amy , Yang Xiao , Tau Gregory , Zhao Guihu , Wang Zhishun , Marsh Rachel 
Published: February 2017

AbstractVerbal–spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non‐Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control. Unknown is whether the VIQ>PIQ discrepancy is associated with functional deficits in these areas in healthy or ill children and adolescents. We assessed the effects of the VIQ>PIQ discrepancy on fMRI BOLD response during the resolution of cognitive conflict in 55 healthy children and adolescents during performance of a Simon Spatial Incompatibility task. As the magnitude of the VIQ>PIQ discrepancy increased, activation of fronto‐striatal, limbic, and temporal regions decreased during conflict resolution (p < .05, corrected). In exploratory analyses, the VIQ>PIQ discrepancy was associated with reduced functional connectivity from right inferior frontal gyrus to right thalamus and increased functional connectivity to right supramarginal gyrus (ps < .03, uncorrected). The VIQ>PIQ discrepancy may be an important aspect of an individual's cognitive profile and likely contributes to, or is associated with, deficient cognitive control processes characteristic of many childhood disorders.
The anatomical and compositional basis of leaf mass per area
Authors: John Grace P. , Scoffoni Christine , Buckley Thomas N. , Villar Rafael , Poorter Hendrik , Sack Lawren 
Published: February 2017

AbstractLeaf dry mass per unit leaf area (LMA) is a central trait in ecology, but its anatomical and compositional basis has been unclear. An explicit mathematical and physical framework for quantifying the cell and tissue determinants of LMA will enable tests of their influence on species, communities and ecosystems. We present an approach to explaining LMA from the numbers, dimensions and mass densities of leaf cells and tissues, which provided unprecedented explanatory power for 11 broadleaved woody angiosperm species diverse in LMA (33–262 g m−2; R2 = 0.94; P < 0.001). Across these diverse species, and in a larger comparison of evergreen vs. deciduous angiosperms, high LMA resulted principally from larger cell sizes, greater major vein allocation, greater numbers of mesophyll cell layers and higher cell mass densities. This explicit approach enables relating leaf anatomy and composition to a wide range of processes in physiological, evolutionary, community and macroecology.