bluuebunny/crossref_metadata_2025_split huggingface dataset:
NOTCH1 mutations are associated with favourable long‐term prognosis in paediatric T‐cell acute lymphoblastic leukaemia: a retrospective study of patients treated on BCH‐2003 and CCLG‐2008 protocol in China
Authors: Gao Chao , Liu Shu‐Guang , Zhang Rui‐Dong , Li Wei‐Jing , Zhao Xiao‐Xi , Cui Lei , Wu Min‐Yuan , Zheng Hu‐Yong , Li Zhi‐Gang 
Published: April 2014

SummaryActivating mutations of NOTCH1 are a common occurrence in T‐cell acute lymphoblastic leukaemia (T‐ALL), but its impact on T‐ALL treatment is still controversial. In this study, the incidence, clinical features, and prognosis of 92 Chinese children with T‐ALL treated using the Beijing Children's Hospital‐2003 and Chinese Childhood Leukaemia Group‐2008 protocols were analysed. NOTCH1 mutations were found in 42% of T‐ALL patients and were not associated with clinical features, prednisone response, and minimal residual disease (MRD) at day 33 and 78. However, proline, glutamate, serine, threonine (PEST)/transactivation domain (TAD) mutations were associated with younger age (15/16 mutant vs. 48/76 wild‐type, P = 0·018) and more central nervous system involvement (4/16 mutant vs. 3/76 wild‐type, P = 0·016); while heterodimerization domain (HD) mutations were associated with KMT2A‐MLLT1 (MLL‐ENL; 4/30 mutant vs. 1/62 wild‐type, P = 0·037). Furthermore, prognosis was better in patients with NOTCH1 mutations than in those with wild‐type NOTCH1 (5‐year event‐free survival [EFS] 92·0 ± 4·5% vs. 64·0 ± 7·1%; P = 0·003). Long‐term outcome was better in patients carrying HD mutations than in patients with wild‐type HD (5‐year EFS 89·7 ± 5·6% vs. 69·3 ± 6·2%; P = 0·034). NOTCH1 mutations and MRD at day 78 were independent prognostic factors. These findings indicate that NOTCH1 mutation predicts a favourable outcome in Chinese paediatric patients with T‐ALL on the BCH‐2003 and CCLG‐2008 protocols, and may be considered a prognostic stratification factor.
Purulent pericarditis, multi‐site abscesses and ketoacidosis in a patient with newly diagnosed diabetes: a rare case report
Authors: Lee H.‐H. , Chu C.‐Y. , Su H.‐M. , Lin T.‐H. , Voon W.‐C. , Lai W.‐T. , Sheu S.‐H. , Hsu P.‐C. 
Published: April 2014

AbstractBackgroundPurulent pericarditis is an acute and fulminant disease characterized by pus accumulation in the pericardial space. Its incidence has declined substantially and the common pathogen has changed since the beginning of the antibiotic era; however, it is still found in some patients with immunocompromised conditions.Case reportWe report a rare case in which the onset of diabetes mellitus presented as extremely high HbA1c concentration, ketoacidosis, multi‐site abscesses and purulent pericarditis. After antibiotic therapy and pericardiocentesis, the purulent pericarditis still did not resolve and further intrapericardial thrombolytic therapy also failed. Finally, this patient was treated successfully by surgical debridement and pericardiectomy.ConclusionIn the immunocompromised state of severe hyperglycaemia, purulent pericarditis is a possible complication of uncontrolled infection. If purulent pericarditis cannot be cured using non‐surgical treatments, such as antibiotic therapy, pericardiocentesis and intrapericardial thrombolytic therapy, a surgical pericardiectomy should be considered to avoid morbidity and mortality.
Aging is associated with increased HbA1c levels, independently of glucose levels and insulin resistance, and also with decreased HbA1c diagnostic specificity
Authors: Dubowitz N. , Xue W. , Long Q. , Ownby J. G. , Olson D. E. , Barb D. , Rhee M. K. , Mohan A. V. , Watson‐Williams P. I. , Jackson S. L. , Tomolo A. M. , Johnson T. M. , Phillips L. S. 
Published: April 2014

AbstractAimTo determine whether using HbA1c for screening and management could be confounded by age differences, whether age effects can be explained by unrecognized diabetes and prediabetes, insulin resistance or postprandial hyperglycaemia, and whether the effects of aging have an impact on diagnostic accuracy.MethodsWe conducted a cross‐sectional analysis in adults without known diabetes in the Screening for Impaired Glucose Tolerance (SIGT) study 2005–2008 (n=1573) and the National Health and Nutrition Examination Survey (NHANES) 2005–2006 (n=1184).ResultsBoth glucose intolerance and HbA1c levels increased with age. In univariate analyses including all subjects, HbA1c levels increased by 0.93 mmol/mol (0.085%) per 10 years of age in the SIGT study and by 1.03 mmol/mol (0.094%) per 10 years in the NHANES; in both datasets, the HbA1c increase was 0.87 mmol/mol (0.08%) per 10 years in subjects without diabetes, and 0.76 mmol/mol (0.07%) per 10 years in subjects with normal glucose tolerance, all P<0.001. In multivariate analyses of subjects with normal glucose tolerance, the relationship between age and HbA1c remained significant (P<0.001) after adjustment for covariates including race, BMI, waist circumference, sagittal abdominal diameter, triglyceride/HDL ratio, and fasting and 2‐h plasma glucose and other glucose levels, as assessed by an oral glucose tolerance test. In both datasets, the HbA1c of an 80‐year‐old individual with normal glucose tolerance would be 3.82 mmol/mol (0.35%) greater than that of a 30‐year‐old with normal glucose tolerance, a difference that is clinically significant. Moreover, the specificity of HbA1c‐based diagnostic criteria for prediabetes decreased substantially with increasing age (P<0.0001).ConclusionsIn two large datasets, using different methods to measure HbA1c, the association of age with higher HbA1c levels: was consistent and similar; was both statistically and clinically significant; was unexplained by features of aging; and reduced diagnostic specificity. Age should be taken into consideration when using HbA1c for the diagnosis and management of diabetes and prediabetes.
Accuracy of Conventional Transthoracic Echocardiography for the Diagnosis of Intracardiac Right‐to‐Left Shunt: A Meta‐Analysis of Prospective Studies
Authors: Mojadidi Mohammad Khalid , Winoker Jared S. , Roberts Scott C. , Msaouel Pavlos , Zaman Muhammad Omer , Gevorgyan Rubine , Tobis Jonathan M. 
Published: April 2014

BackgroundParadoxical embolization through a right‐to‐left shunt (RLS), often from a patent foramen ovale (PFO), has been associated with cryptogenic stroke. While transesophageal echo (TEE) bubble study is the current standard reference for diagnosing PFO, transthoracic echo (TTE) remains the most commonly used screening test for RLS due to its noninvasiveness and easy availability. The aim of this meta‐analysis was to determine the accuracy of TTE compared to TEE as the reference.Methods and ResultsA systematic review of Medline, Cochrane, and Embase was done to look for all the prospective studies assessing for intracardiac RLS using conventional TTE compared to TEE as the reference; both TTE and TEE were performed with a contrast agent and a maneuver to provoke RLS in all studies. A total of 13 studies with 1436 patients fulfilled the inclusion criteria. The weighted mean sensitivity and specificity for TTE were 46% and 99%, respectively. Likewise, the positive likelihood ratio and negative likelihood ratio were 20.85 and 0.57, respectively. Using different contrast agents, different microbubble cutoffs for a positive TTE/TEE, and different cardiac cycle cutoffs for a positive TTE/TEE did not affect the accuracy of TTE. In a population of patients with cryptogenic stroke, a TTE that tests positive for RLS has a 95% probability of being a true positive.ConclusionTransthoracic echocardiogram has a low sensitivity and extremely high specificity, making it a poor rule out test but an excellent rule in test for the detection of intracardiac RLS.
Personality dimensions in persons symptomatically at risk of psychosis: pronounced but lacking a characteristic profile
Authors: Schultze‐Lutter Frauke , Klosterkötter Joachim , Nikolaides Alexandra , Ruhrmann Stephan 
Published: April 2014

AbstractAimPersonality dimensions are frequently abnormal in psychosis. We examined if these abnormalities form a personality profile that is characteristic for patients symptomatically at risk of psychosis.MethodsFour higher order personality dimensions were assessed in 104 at‐risk patients, 67 clinical and 97 healthy controls with the ‘Dimensional Assessment of Personality Pathology’, and analysed by two‐step cluster procedure to detect personality profiles. Logistic regression was used to test for predictors of profile assignment.ResultsLow and high scorers were distinguished by two profiles. Patients were more likely high scorers. The presence of clinically relevant depression, though equally frequent in clinical groups, best predicted high scorers among patients.ConclusionsThough at‐risk patients were significantly more often high scorers, this seemed to be a general reflection of the level of psychopathology rather than a group characteristic. Thus, personality dimensions might be of little value for facilitating early detection but might be important to consider in early intervention approaches.
Isolated anti‐β2‐glycoprotein I antibodies in neurology: a frontier syndrome between multiple sclerosis and antiphospholipid syndrome?
Authors: Renaud M. , Aupy J. , Uring‐Lambert B. , Chanson J.‐B. , Collongues N. , Blanc F. , De Sèze J. 
Published: April 2014

Background and purposeAnti‐β2‐glycoprotein I (anti‐β2‐GPI) antibodies are part of the heterogeneous family of antiphospholipid antibodies and seem to be present in various neurological manifestations in addition to antiphospholipid syndrome (APS). Our objective was to analyse the clinical, radiological and therapeutic characteristics of neurological patients with positive anti‐β2‐GPI antibodies and without the Sapporo criteria for APS.MethodsThe medical records were retrospectively reviewed of 28 consecutive patients hospitalized in the Neurology Department of Strasbourg University Hospital, France, in whom anti‐β2‐GPI antibodies (immunoglobulin G and/or immunoglobulin M) were positive and other antiphospholipid antibodies negative, from November 2005 to July 2011. Clinical, radiological, biological and therapeutic data and clinical course were studied.ResultsPositive anti‐β2‐GPI antibodies were present in 28 patients. The predominant physiopathological process was mainly inflammatory (25% with myelitis, 14.3% with optic neuritis) or vascular (14.3% with cerebral ischaemia, 7.1% with cerebral vasculitis). Brain magnetic resonance imaging was performed in 89.3% of patients: atypical lesions were observed in 44% and typical inflammatory and vascular lesions in 16% and 12%, respectively.ConclusionThe anti‐β2‐GPI antibody seems to be involved in two types of neurological disease: vascular or inflammatory ‘multiple sclerosis‐like’ disease. These two types of patients frequently develop an autoimmune disease (multiple sclerosis, systemic lupus erythematosus, APS). However, a large proportion of the patients had an undefined profile with aspecific cerebral lesions and required monitoring. This study raises questions about a separate entity at the border between APS and multiple sclerosis which remains to be better defined in a larger cohort.
Multilocus analysis of hormonal, neurotransmitter, inflammatory pathways and genome‐wide associated variants in migraine susceptibility
Authors: Ghosh J. , Pradhan S. , Mittal B. 
Published: April 2014

Background and purposeMigraine pathophysiology involves a complex interplay of processes wherein the hormonal, neurotransmitter and inflammatory pathways interact to influence the migraine phenotype. However, all studies pertaining to the role of genetic variants in migraine have been restricted to a specific pathway and none of the studies has looked into inter‐pathway genetic analysis. Our aim was to combine all the genetic variants from our previously reported studies to conduct higher order gene–gene interaction analysis using different multi‐analytical approaches.MethodsThe study group included 324 migraine patients and 134 healthy controls. The study included 20 polymorphisms from hormonal, neurotransmitter, inflammatory and genome‐wide associated variants from our published reports. Univariate and multivariate analyses were carried out by logistic regression. Classification and regression tree (CART) analysis was performed to build a decision tree via recursive partitioning. The high order genetic interactions associated with migraine risk were analyzed using multifactor dimensionality reduction (MDR).ResultsUnivariate analysis revealed significant associations of polymorphisms in CYP19A1, ESR1, TNFA and PRDM16 genes with migraine susceptibility. Multiple regression analysis found significant results for four markers in CYP19A1, TNFA, ESR1 and LRP1 genes. In CART, the most prominent splitting variable was CYP19A1 polymorphism followed by TNFA, ESR1 and PRDM16 markers. The MDR analysis identified markers of CYP19A1, CYP19A1‐ TNFA, CYP19A1‐ ESR1‐ TNFA and CYP19A1‐ ESR1‐ TRPM8‐ PRDM16 as best models for one, two, three and four factors, respectively.ConclusionsThe present study suggests interactions amongst hormonal, inflammatory and genome‐wide associated variants but not with neurotransmitter pathway variants in migraine susceptibility.
Iron deposits in post‐mortem brains of patients with neurodegenerative and cerebrovascular diseases: a semi‐quantitative 7.0 T magnetic resonance imaging study
Authors: De Reuck J. L. , Deramecourt V. , Auger F. , Durieux N. , Cordonnier C. , Devos D. , Defebvre L. , Moreau C. , Caparros‐Lefebvre D. , Leys D. , Maurage C. A. , Pasquier F. , Bordet R. 
Published: April 2014

Background and purposeAccumulation of iron (Fe) is often detected in brains of people suffering from neurodegenerative diseases. However, no studies have compared the Fe load between these disease entities. The present study investigates by T2*‐weighted gradient‐echo 7.0 T magnetic resonance imaging (MRI) the Fe content in post‐mortem brains with different neurodegenerative and cerebrovascular diseases.MethodsOne hundred and fifty‐two post‐mortem brains, composed of 46 with Alzheimer's disease (AD), 37 with frontotemporal lobar degeneration (FTLD), 11 with amyotrophic lateral sclerosis, 13 with Lewy body disease, 14 with progressive supranuclear palsy, 16 with vascular dementia (VaD) and 15 controls without a brain disease, were examined. The Fe load was determined semi‐quantitatively on T2*‐weighted MRI serial brain sections in the claustrum, caudate nucleus, putamen, globus pallidus, thalamus, subthalamic nucleus, hippocampus, mamillary body, lateral geniculate body, red nucleus, substantia nigra and dentate nucleus. The disease diagnosis was made on subsequent neuropathological examination.ResultsThe Fe load was significantly increased in the claustrum, caudate nucleus and putamen of FTLD brains and to a lesser degree in the globus pallidus, thalamus and subthalamic nucleus. In the other neurodegenerative diseases no Fe accumulation was observed, except for a mild increase in the caudate nucleus of AD brains. In VaD brains no Fe increase was detected.ConclusionsOnly FTLD displays a significant Fe load, suggesting that impaired Fe homeostasis plays an important role in the pathogenesis of this heterogeneous disease entity.
Bullying Victimization at School and Headache: A Meta‐Analysis of Observational Studies
Authors: Gini Gianluca , Pozzoli Tiziana , Lenzi Michela , Vieno Alessio 
Published: April 2014

Background and objectivesBeing bullied at school is a risk factor for a variety of negative consequences, including somatic problems. The purpose of this meta‐analysis is to determine the association between peer victimization and headache in the school‐age population.MethodsA systematic literature search was conducted in September 2013 to identify observational studies that examined the association between being bullied and headache in children and adolescents. Odds ratios (OR) were pooled by using a random‐effects model. Moderator and sensitivity analyses were conducted.ResultsTwenty studies, including a total of 173,775 participants, satisfied the pre‐stated inclusion criteria. Fourteen studies reported data on the prevalence of headache, which was on average 32.7% (range: 9.1‐71.7%) in the bullied group and 19.1% (range: 5.3‐46.1%) in the control group. Two separate meta‐analyses of the association between being bullied and headache were performed on 3 longitudinal studies (OR = 2.10, 95% confidence interval = 1.19‐3.71) and 17 cross‐sectional studies (OR = 2.00, 95% confidence interval = 1.70‐2.35), respectively. Results showed that bullied children and adolescents have a significantly higher risk for headache compared with non‐bullied peers. In the cross‐sectional studies, the magnitude of effect size significantly decreased with the increase of the proportion of female participants in the study sample. No further moderators were statistically significant.ConclusionsThe positive association between bullying victimization and headache was confirmed. Further research on the environmental factors that may influence this symptom is needed.
Does the preoperative alpha‐fetoprotein predict the recurrence and mortality after hepatectomy for hepatocellular carcinoma without macrovascular invasion in patients with normal liver function?
Authors: Kudo Atsushi , Matsumura Satoshi , Ban Daisuke , Irie Takumi , Ochiai Takanori , Tanaka Shinji , Arii Shigeki , Tanabe Minoru 
Published: April 2014

AimIt has been highly controversial whether elevated serum α‐fetoprotein (AFP) level before hepatectomy predicts recurrence and mortality of patients with hepatocellular carcinoma (HCC) or not. This study is to identify whether the index predicts recurrence and mortality after hepatectomy in HCC.MethodsOf 568 consecutive patients, 342 with normal liver function (Child–Pugh score, 5) and no macrovascular invasion were enrolled between April 2000 and March 2013. Multivariate analysis was performed to identify risk factors for disease‐free survival (DFS) and overall survival (OS).ResultsIn multivariate analysis, the elevated serum AFP level was an independent risk factor for DFS (hazard ratio [HR], 1.9; P < 0.0001) and OS (HR, 2.0; P < 0.0001). Histological hepatic venous tumor thrombus was also an independent risk factor for DFS (HR, 2.6; P < 0.0001) and OS (HR, 2.5; P = 0.001). Anatomical resection decreases the risk factor for recurrence after hepatectomy (HR, 0.6; P = 0.003), though it did not decrease the risk for OS (P = 0.3). At 5 years, DFS rates were 42% and 21% (P < 0.0001) and OS rates were 75% and 46% among patients with low and high AFP levels, respectively (P < 0.0001). The area under the receiver–operator curves (AUROC) of serum AFP and des‐γ‐carboxy prothrombin were 0.65 and 0.58 for DFS and 0.65 and 0.57 for OS, respectively. Tumor size was the best predictor of microvascular invasion (AUROC, 0.70, P < 0.0001).ConclusionSerum AFP was a highly reliable index for DFS and OS.
Interferon lambda 4 polymorphism affects on outcome of telaprevir, pegylated interferon and ribavirin combination therapy for chronic hepatitis C
Authors: Nagaoki Yuko , Imamura Michio , Kawakami Yoshiiku , Kan Hiromi , Fujino Hatsue , Fukuhara Takayuki , Kobayashi Tomoki , Ono Atsushi , Nakahara Takashi , Naeshiro Noriaki , Urabe Ayako , Yokoyama Satoe , Miyaki Daisuke , Murakami Eisuke , Kawaoka Tomokazu , Tsuge Masataka , Hiramatsu Akira , Aikata Hiroshi , Takahashi Shoichi , Hayes C. Nelson , Ochi Hidenori , Chayama Kazuaki ,   Hiroshima Liver Study Group
Published: April 2014

AimThe predictive value of the recently identified interferon‐λ (IFNL)4 polymorphism on the outcome of telaprevir (TVR), pegylated interferon (PEG IFN) plus ribavirin (RBV) combination therapy for chronic hepatitis C is unknown.MethodsWe assessed predictive factors for sustained virological response (SVR) for TVR, PEG IFN plus RBV combination therapy in 283 genotype 1 chronic hepatitis C patients. IFNL4 polymorphism ss469415590 was analyzed by Invader assay.ResultsSVR rates for patients with IFNL4 TT/TT genotype were significantly higher than for those with the IFNL4 TT/ΔG or ΔG/ΔG genotypes (93% and 59%, respectively, P < 0.0001). In a multivariate regression analysis, prior treatment history (treatment‐naïve patients or patients who relapsed during prior treatment) (odds ratio [OR], 2.385; P = 0.028), rapid virological response (OR, 6.800; P < 0.0001) and ss469415590 TT/TT genotype (OR, 8.064; P < 0.0001) were identified as significant independent predictors for SVR. In patients with IFNL4 TT/ΔG or ΔG/ΔG genotypes, SVR rates for non‐RVR patients were significantly lower than RVR patients (22% and 75%, respectively, P < 0.0001).ConclusionAnalysis of IFNL4 polymorphism is a valuable predictor in patients receiving TVR triple therapy.
The ‘Robust’ roster: exploring the nurse rostering process
Authors: Drake Robert G. 
Published: April 2014

AbstractAimTo identify and explore the relationships between stages of the rostering process and the robustness of the worked roster.BackgroundOnce published, a nurse roster is often subject to many changes. However, post‐approval changes and their implications are rarely examined. Consequently, there is little evidence to determine whether a ‘worked’ roster was safe, efficient or fair. Electronic rostering systems provide greater transparency of the rostering process allowing postapproval changes to be examined more thoroughly.DesignUsing quantitative data, this study compares the outcomes from different stages of the roster process with the shifts breaking roster rules.MethodsThis study covered the period November 2009–January 2013 and included forty‐two roster periods from fifteen wards. For each of the rosters, data specifying the type of shift assignment (request, manual and automatic) and number of shifts changed after approval (response variables) were captured. Linear regression analysis was then used to identify and explore the relationships between these response variables and the number of shifts breaking rules.FindingsRoster robustness is unaffected by the number of staff requests, Yet, how shifts are assigned before approval and the number of changes postapproval have a marked effect on the robustness of the roster.ConclusionsRoster ‘robustness’ is determined by the quality of the approved roster and subsequent postapproval demand‐ and supply‐driven changes. Despite evidence that e‐rostering can improve roster robustness, many Ward Managers prefer to roster manually. On some wards, rosters are approved, regardless of the number of rule breakages occurring.