bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic basis of end‐stage hypertrophic cardiomyopathy
Authors: Garcia‐Pavia Pablo , Vázquez Maria E. , Segovia Javier , Salas Clara , Avellana Patricia , Gómez‐Bueno Manuel , Vilches Carlos , Gallardo M. Esther , Garesse Rafael , Molano Jesús , Bornstein Belén , Alonso‐Pulpon Luis 
Published: September 2011

AimsHypertrophic cardiomyopathy (HCM) is characterized by a heterogeneous presentation and clinical course. A minority of HCM patients develop end‐stage HCM and require cardiac transplantation. The genetic basis of end‐stage HCM is unknown but small series, isolated case reports and animal models have related the most aggressive heart failure course with the presence of multiple mutations.Methods and resultsTwenty‐six patients (age 40.4 ± 14.5 years; 46% male) transplanted for end‐stage HCM underwent genetic screening of 10 HCM‐related genes (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, TNNC1, MYL3, MYL2, ACTC, LDB3). Additional genetic screening of LAMP2/PRKAG2 and mitochondrial DNA (mtDNA) was performed in four and three cases, respectively. Findings were correlated with clinical and histological features. Pathogenic mutations were identified in 15 patients (58%). Thirteen patients (50%) had mutations in sarcomeric genes (six in MYH7, three in MYBPC3, two in MYL2, one in TNNI3, and one in MYL3) and two patients had mutations in LAMP2. Only three patients (13%) had double mutations and all in homozygosis. Except for a more frequent family history of HCM, patients with mutations in sarcomeric genes did not show any clinical feature that distinguished them from patients without mutations in these genes. Evaluation of 44 relatives from 12 families identified 13 mutation carriers, 9 of whom had an overt HCM phenotype.ConclusionHeart transplanted HCM has a heterogeneous genetic background where multiple mutations are uncommon. The clinical course of HCM is not primarily dependent on the presence of multiple sarcomeric mutations. Clinical and genetic evaluation of relatives does not support differential clinical management in HCM based on genetics.
Expression of Enzymes Involved in Chlorophyll Catabolism in Arabidopsis Is Light Controlled
Authors: Banaś Agnieszka Katarzyna , Łabuz Justyna , Sztatelman Olga , Gabryś Halina , Fiedor Leszek 
Published: September 2011

Abstract
We found that the levels of mRNA of two enzymes involved in chlorophyll catabolism in Arabidopsis (Arabidopsis thaliana), products of two chlorophyllase genes, AtCLH1 and AtCLH2, dramatically increase (by almost 100- and 10-fold, respectively) upon illumination with white light. The measurements of photosystem II quantum efficiency in 3-(3,4-dichlorophenyl)-1,1-dimethylurea-inhibited leaves show that their expression is not related to photosynthesis but mediated by photoreceptors. To identify the photoreceptors involved, we used various light treatments and Arabidopsis photoreceptor mutants (cry1, cry2, cry1cry2, phot1, phot2, phot1phot2, phyA phyB, phyAphyB). In wild-type Columbia, the amount of transcripts of both genes increase after white-light irradiation but their expression profile and the extent of regulation differ considerably. Blue and red light is active in the case of AtCLH1, whereas only blue light raises the AtCLH2 mRNA level. The fundamental difference is the extent of up-regulation, higher by one order of magnitude in AtCLH1. Both blue and red light is active in the induction of AtCLH1 expression in all mutants, pointing to a complex control network and redundancy between photoreceptors. The blue-specific up-regulation of the AtCLH2 transcript is mediated by cryptochromes and modulated by phototropin1 and phytochromes. Individually darkened leaves were used to test the effects of senescence on the expression of AtCLH1 and AtCLH2. The expression profile of AtCLH1 remains similar to that found in nonsenescing leaves up to 5 d after darkening. In contrast, the light induction of AtCLH2 mRNA declines during dark treatment. These results demonstrate that the expression of enzymes involved in chlorophyll catabolism is light controlled.
Combined synchrotron X-ray and image-correlation analyses of biaxially deformed W/Cu nanocomposite thin films on Kapton
Authors: Djaziri Soundes , Renault Pierre-Olivier , Hild François , Le Bourhis Eric , Goudeau Philippe , Thiaudière Dominique , Faurie Damien 
Published: September 2011

In situbiaxial tensile tests within the elastic domain were conducted with W/Cu nanocomposite thin films deposited on a polyimide cruciform substrate using a biaxial testing machine developed on the DiffAbs beamline at the Synchrotron SOLEIL. The mechanical behaviour of the nanocomposite was characterized at the micro- and macroscales using synchrotron X-ray diffraction and digital image-correlation techniques simultaneously. Strain analyses for equibiaxial and non-equibiaxial loading paths were carried out. The results show that the two strain measurements match to within 1 × 10−4in the elastic domain for strain levels less than 0.3% and for both loading paths.
Characterization ofCpSte11, a MAPKKK gene ofCryphonectria parasitica, and initial evidence of its involvement in the pheromone response pathway
Authors: PARK JIN‐AH , KIM JUNG‐MI , PARK SEUNG‐MOON , KIM DAE‐HYUK 
Published: September 2011

SUMMARYThe geneCpSte11ofCryphonectria parasitica, which encodes a yeast Ste11 homologue, was cloned and characterized. Gene replacement analysis revealed a high frequency ofCpSte11null mutants. When compared with the wild‐type parent strain,CpSte11null mutants showed no difference in terms of growth rate or pigmentation. However,CpSte11null mutants showed a marked decrease in both the number and size of stromal pustules on chestnut twigs. The virulence test showed that, in comparison with those of the wild‐type and virus‐infected hypovirulent strains,CpSte11null mutants produced necrotic areas of intermediate size. Disruption of theCpSte11gene also resulted in defects in female fertility. Down‐regulation of transcripts for the mating pheromone precursor gene,Mf2/2, and mating response transcription factors, such ascpst12andpro1, was observed inCpSte11null mutants. The down‐regulation ofMf2/2,cpst12andpro1was also observed in the mutant phenotype ofCpmk2, a mating response Fus3‐like mitogen‐activated protein kinase (MAPK) gene, but not in the mutant ofCpmk1, a high‐osmolarity glycerol Hog1‐like MAPK gene. These results indicate that the clonedCpSte11gene is functionally involved in the mating response pathway and acts through downstream targets, includingCpmk2,cpst12,pro1andMf2/2. However, the characteristics of theCpSte11null mutant were fully phenocopied only in thecpst12null mutant, but not in other studied null mutants of components of the putative mating response pathway.
A prospective evaluation of postural stimulation testing, computed tomography and adrenal vein sampling in the differential diagnosis of primary aldosteronism
Authors: Lau Jeshen H. G. , Candy Sze W. C. , Reznek Rodney H. , Matson Matthew , Sahdev Anju , Carpenter Robert , Berney Daniel M. , Akker Scott A. , Chew Shern L. , Grossman Ashley B. , Monson John P. , Drake William M. 
Published: September 2011

SummaryContext  In primary aldosteronism (PA), discriminating unilateral from bilateral disease is crucial because adrenalectomy is frequently curative in the former case but rarely helps in the latter. Various series have reported the utility of postural stimulation testing (PST), cross‐sectional imaging and adrenal vein sampling (AVS) in the assessment of PA, but most of these studies were retrospective.Objective  To prospectively determine the diagnostic utility of PST, AVS and computed tomography (CT) using a radiological scoring system in the assessment of PA in a tertiary centre, as well as to document the incidence of autonomous cortisol cosecretion.Design and Setting  Fifty consecutive patients with PA underwent PST, CT, AVS and a low‐dose dexamethasone suppression test with measurement of serum cortisol at 48 h. For patients who underwent surgery, histological confirmation, and a normal postoperative serum aldosterone concentration and plasma renin activity were taken as evidence for unilateral disease. For other patients, results from successful adrenal vein sampling were the diagnostic evidence against which CT and PST were assessed.Results  Postural stimulation testing had a sensitivity and specificity of 44–56% and 71–75%, respectively. CT had an overall sensitivity and specificity of 77% and 80%, respectively, rising to 100% sensitivity and specificity if there was a single, discrete macronodule with an unequivocally normal contralateral gland. Evidence of cosecretion of cortisol occurred in 14% of patients.Conclusions  Preliminary experience is presented of an objective radiological scoring system for selecting patients with PA for AVS. PST provides little, if any, useful additional information. A significant minority of patients with PA exhibit evidence of cortisol cosecretion, which may have implications for perioperative management.
Efficacy and safety of zinc supplementation for adults, children and pregnant women with HIV infection: systematic review
Authors: Zeng Linan , Zhang Lingli 
Published: September 2011

SummaryObjectives  To determine the efficacy and safety of zinc supplementary in children, adults and pregnant women with HIV infection.Methods  We conducted a comprehensive search in Medline, Embase, the Cochrane Library, CBM, VIP and CNKI. Only randomized controlled trials conducted subsequent to the introduction of zinc supplementation were included in this systematic review. Two reviewers assessed and extracted data for analysis.Results  Six trials with a total of 1009 participants were included. The findings in this review suggested a benefit of zinc supplementation in reducing opportunistic infection for both adults and children with HIV infection. In terms of increase in zinc level and CD4 counts, however, only adults with HIV infection benefited. For other outcomes, such as viral load, mortality, mother‐to‐child transmission of HIV and foetal outcomes, zinc supplementation conferred no benefit over placebo. No adverse event related to zinc supplementation was found in all the included trials.Conclusion  Based on the current evidence, zinc supplementation seems to be beneficial in adult patients with HIV infection in some aspects. More research is needed in children and pregnant women. The influence of zinc dose, duration and usage of antiretroviral medicine also requires further investigation.
Inclusive health
Authors: MacLachlan Malcolm , Khasnabis Chapal , Mannan Hasheem 
Published: September 2011

AbstractWe propose the concept of Inclusive Health to encapsulate the Health for All ethos; to build on the rights‐based approach to health; to promote the idea of inclusion as a verb, where a more proactive approach to addressing distinctive and different barriers to inclusion is needed; and to recognise that new initiatives in human resources for health can offer exciting and innovative ways of healthcare delivery. While Inclusive Education has become a widely recognised and accepted concept, Health for All is still contested, and new thinking is required to develop its agenda in line with contemporary developments. Inclusive Health refers both to who gets health care and to who provides it; and its ethos resonates strongly with Jefferson’s assertion that ‘there is nothing more unequal, than the equal treatment of unequal people’. We situate the timeliness of the Inclusive Health concept with reference to recent developments in the recognition of the rights of people with disability, in the new guidelines for community‐based rehabilitation and in the World Report on Disability. These developments offer a more inclusive approach to health and, more broadly, its inter‐connected aspects of wellbeing. A concept which more proactively integrates United Nations conventions that recognise the importance of difference – disability, ethnicity, gender, children – could be of benefit for global healthcare policy and practice.
Neurally adjusted ventilatory assist vs. pressure support ventilation in critically ill patients: an observational study
Authors: BARWING J. , LINDEN N. , AMBOLD M. , QUINTEL M. , MOERER O. 
Published: September 2011

BackgroundDuring neurally adjusted ventilatory assist (NAVA), the inspiratory support is controlled by the patients' respiratory drive influenced by an operator‐controlled gain factor (NAVA level). The purpose of our observational study was to transfer patients from conventional pressure support ventilation (PSV) to NAVA safely. We compared two approaches to set the NAVA level and evaluated the effect of NAVA.MethodsWe studied mechanically ventilated patients capable of spontaneous breathing. For the change of the ventilator mode, we used a NAVA level calculated to generate a peak inspiratory pressure equal to PSV. We compared this NAVA level with a NAVA level determined by a NAVA level titration. Ventilatory and haemodynamic data were recorded during an observational period of 6 h.ResultsAll 20 patients included in the study could be transferred from PSV to NAVA and completed the observation interval. Setting the NAVA level according to prior PSV settings proved to be a feasible approach, but in 75% of our patients, we modified the NAVA level according to the titration results. Gas exchange and ventilatory mechanics during the observation interval remained stable.ConclusionsThe ventilator mode NAVA seems to be well tolerated in a heterogeneous group of critically ill patients. Pre‐setting of the NAVA level during PSV can result in an overestimation of the required ventilator support. An additional titration of the NAVA level ads valuable information although difficult to interpret in some cases.
The role of mobility for the emergence of diversity in victim–exploiter systems
Authors: CHAIANUNPORN T. , HOVESTADT T. 
Published: September 2011

AbstractTheoretical and empirical studies indicate that exploitation is a possible driver of exploiter and victim diversification. However, there are many factors which could promote and limit this diversification process. Using a spatially explicit individual‐based model, where an exploiter’s success depends on matching between its own and a victim’s continuous trait, we simulate local communities of victims and exploiters. We investigate how exploiter mobility (searching ability and movement strategies) can influence diversification of victims. We find that if victim traits are under intermediate intensity of stabilizing selection, disruptive selection exerted by exploiters can indeed lead to diversification in victim population and the victim trait distribution can split into two or more groups. Searching ability and movement strategy of exploiters (local vs. global movement) play a role in determining the number of victim trait groups emerging. Moreover, they affect the proportion of infected victims and the formation of spatial patterns in the victim trait distribution. In addition, with a high searching ability, exploiters with global movement drive victims to be more diverse than exploiters with local movement.
Disease‐free survival of patients after surgical resection of non‐small cell lung carcinoma and correlation with excision repair cross‐complementation group 1 expression and genotype
Authors: TSEDEN‐ISH MANALJAV , CHOI YOO‐DUK , CHO HYUN‐JU , BAN HEE‐JUNG , OH IN‐JAE , KIM KYU‐SIK , SONG SANG‐YUN , NA KOOK‐JOO , AHN SUNG‐JA , CHOI SONG , KIM YOUNG‐CHUL 
Published: September 2011

ABSTRACTBackground and objective:  Expression of excision repair cross‐complementation group 1 (ERCC1) is recognized as a favourable prognostic marker in patients who have undergone surgical resection of non‐small cell lung cancer (NSCLC). However, in patients treated with adjuvant chemotherapy after surgical resection, ERCC1 correlated with poor prognosis. Class III beta tubulin (TUBB3) is also known to be a predictive marker of the efficacy of treatment with taxanes or vinorelbine.Methods:  Tumour tissues (n = 363) from patients with surgically resected NSCLC were analysed retrospectively. Tissue sections were labelled with ERCC1‐ and TUBB3‐specific antibodies. Using genomic DNA from 262 patients, single nucleotide polymorphisms of the ERCC1 gene (T19007C and C8092A) were genotyped by PCR‐restriction fragment length polymorphism analysis.Results:  Only 5.9% of patients with stage I disease (14/238) and 61.6% of patients with stages II–III disease (77/125) received adjuvant chemotherapy. Relapses were noted in 30.6% (111) of patients, and among these, 31 ultimately succumbed. The relapse rate (RR) was 24.8% for stage I disease, and 41.6% for stages II–III disease. The RR was significantly lower in ERCC1‐positive (24.3%) as compared with ERCC1‐negative patients (36.3%, P = 0.014) and was lower in patients with the AA/CA genotype at the ERCC1 C8092A locus (29.5%) compared with those with the CC genotype (42.1%, P = 0.034). The median disease‐free survival (DFS) time was 62.3 months. DFS was significantly greater in ERCC1‐positive patients (62.3 months) than in ERCC1‐negative patients (48.0 months, P = 0.042). In a multivariate analysis, ERCC1 expression and the C8092A polymorphism were independent prognostic factors in patients with stage I disease who were naïve to chemotherapy.Conclusions:  ERCC1 expression and the AA/CA genotype at the C8092A locus were correlated with a good prognosis in patients who had undergone surgical resection of NSCLC.
Pilot study comparing SPECT perfusion scintigraphy with CT pulmonary angiography in chronic thromboembolic pulmonary hypertension
Authors: SOLER XAVIER , KERR KIM M. , MARSH JAMES J. , RENNER JOHN W. , HOH CARL K. , TEST VICTOR J. , MORRIS TIMOTHY A. 
Published: September 2011

ABSTRACTBackground and objective:  The management of chronic thromboembolic pulmonary hypertension (CTEPH) is dependent on the extent of pulmonary artery obstruction, which is usually evaluated by planar perfusion scanning and CT pulmonary angiography (CTPA). We previously reported that SPECT perfusion scanning is more sensitive than planar scanning for detecting vascular obstruction in CTEPH. The purpose of this study is to compare SPECT with CTPA for detecting segmental pulmonary artery obstruction in CTEPH.Methods:  SPECT and CTPA were carried out before pulmonary endarterectomy in 12 CTEPH patients. Field experts documented the anatomical distribution of perfusion defects disclosed by SPECT, the anatomical distribution of pulmonary arterial filling defects disclosed by CTPA and the segmental anatomy of the vascular obstructions based on a review of clinical and pathology records, without knowledge of scan results.Results:  Clinical/pathological evaluation disclosed 140 obstructed (15.5 ± 2.5 per patient) and 40 unobstructed lung segments. SPECT scanning identified 87/140 (62%) of the obstructed and 29/40 (72%) of the unobstructed segments. By comparison, CTPA identified 67/140 (47.8%) of the obstructed and 32/40 (80%) of the unobstructed segments. Sensitivity for detecting obstructed segments was significantly higher for SPECT compared with CTPA (62 ± 4.1% vs 47.8 ± 2.9%, respectively; P = 0.03).Conclusions:  SPECT is more sensitive than CTPA for identifying obstructed segments in this small sample of CTEPH patients. However, even SPECT under‐represents the extent of vascular obstruction from this disease.
Laparoscopic restorative proctocolectomy: safety and critical level of the ileal pouch anal anastomosis
Authors: Duff S. E. , Sagar P. M. , Rao M. , Macafee D. , El‐Khoury T. 
Published: September 2011

AbstractAim  The study reports the longer‐term results of laparoscopic‐assisted restorative proctocolectomy (RPC), with particular reference to safety and the level of the stapled ileal pouch‐anal anastomosis (IPAA).Method  Data were collected prospectively from all patients who underwent laparoscopic RP from July 2006 to July 2010. In each patient the operation involved the use of a short (6 cm) Pfannenstiel incision to facilitate placement of the linear stapler for anorectal division.Results  Seventy‐five patients underwent RPC either with total proctocolectomy (n = 53) or after previous emergency colectomy (n = 22). Early postoperative morbidity occurred in 18 (24%) patients and readmission within 30 days occurred in 18 (24%). Morbidity during follow up developed in 29 (39%). A pouchogram was carried out in all 75 patients before ileostomy closure with an abnormality shown in eight. The median level of the IPAA was at 3.0 cm (1.0–5.0cm) above the dentate line. At a median of 33 (9–57) months, there has been one case of small bowel obstruction and no incisional hernia.Conclusion  In laparoscopic‐assisted RPC a limited Pfannenstiel incision allows safe construction of the IPAA at an appropriate level. Laparoscopic RPC is safe and the emerging long‐term follow‐up data show the benefitof this approach, with very low rates of small bowel obstruction and incisional hernia formation.
Can acute abdominal CT prioritize patients with suspected diverticulitis for a subsequent clean colonic examination?
Authors: Grevfors N. , Torkzad M. R. , Bergman A. , Påhlman L. 
Published: September 2011

AbstractAim  The aim of this study was to investigate whether patients with diverticulitis can be prioritized with higher urgency for a subsequent full colonic examination based upon the emergency abdominal CT scan performed at the time of presentation.Method  All patients with a diagnosis of diverticulitis, hospitalized during 2006 and having a CT scan on admission and a subsequent ‘clean colon’ examination, were reviewed. The CT scan was reviewed by two independent and blinded senior radiologists (Radiologist A and Radiologist B) for signs inconsistent with diverticulitis and suggestive of malignancy. The patients were classified on the CT scan results into group 1 (normal findings, nontumour pathology or benign polyps < 1 cm) or group 2 (benign polyps ≥ 1 cm and cancer).Results  Ninety‐three patients (83 in group 1 and 10 in group 2) were reviewed. Radiologist A suggested high‐priority colonic examination in 18% and 50% of patients in groups 1 and 2, respectively, and Radiologist B in 63% and 90% of patients, respectively. There was a statistically significant interobserver difference, and also lower accuracy of Radiologist B compared with Radiologist A in predicting a subsequent ‘clean colon’ examination.Conclusion  Use of an emergency acute CT scan at the time of diagnosis of diverticulitis to predict a clean colon examination for neoplasia is not reliable because there is a considerable degree of interobserver difference between radiologists.
Coming of age in Spain: the self‐identification, beliefs and self‐esteem of the second generation1
Authors: Portes Alejandro , Vickstrom Erik , Aparicio Rosa 
Published: September 2011

AbstractWe review the literature on determinants of ethnic/national self‐identities and self‐esteem as a prelude to examining these outcomes among a large, statistically representative sample of second generation adolescents in Madrid and Barcelona. While these psycho‐social outcomes are malleable, they still represent important dimensions of immigrant adaptation and can have significant consequences both for individual mobility and collective mobilizations. Current theories are largely based on data from the USA and other Anglophone countries. The availability of a new large Spanish survey allows us to test those theories in an entirely different socio‐cultural context. The analysis concludes with a structural equations model that summarizes key determinants of national identities and self‐esteem among children of immigrants in Spain. Theoretical and practical implications of these findings are discussed.