bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis
Authors: Piaceri I , Del Mastio M , Tedde A , Bagnoli S , Latorraca S , Massaro F , Paganini M , Corrado A , Sorbi S , Nacmias B 
Published: June 2011

Piaceri I, Del Mastio M, Tedde A, Bagnoli S, Latorraca S, Massaro F, Paganini M, Corrado A, Sorbi S, Nacmias B. Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis (ALS) is a rare and devastating neurodegenerative disorder. The majority of cases are sporadic ALS (SALS), with 5–10% being familial ALS (FALS), and are inherited mostly as autosomal dominant. Mutations in Cu/Zn superoxide dismutase (SOD1) and the TAR DNA‐binding protein (TARDBP) gene are the most commonly known cause of ALS. We analyzed these genes in 61 Italian ALS patients using high‐resolution melting analysis to confirm the role of SOD1 and TARDBP in the physiopathology of ALS. The screenings showed a single mutation in SOD1 (Asp109Tyr) and three in TARBDP (Ala382Thr, Gly295Ser, Gly294Val) in five unrelated ALS patients. This report enlarges the spectrum of clinical phenotypes associated with genetic mutations in SOD1 and TARDBP genes confirming the variability of phenotypes associated with the same mutation and emphasizes the importance of genetic analysis. The different genotype–phenotype correlations suggest the implication of other factors possibly influencing clinical manifestation of the disease, such as an epigenetic or epistatic effect with other genes not yet identified.
ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension
Authors: Eyries M , Coulet F , Girerd B , Montani D , Humbert M , Lacombe P , Chinet T , Gouya L , Roume J , Axford MM , Pearson CE , Soubrier F 
Published: June 2011

Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.Germline mutations in genes encoding members of the transforming growth factor‐β (TGF‐β)/bone morphogenetic protein (BMP) superfamily are causal for two hereditary vascular disorders, hereditary hemorrhagic telangiectasia (HHT) and heritable pulmonary arterial hypertension (PAH). When the two diseases coexist, activin A receptor type II‐like kinase‐1 (ACVRL1) gene mutations are usually identified. We report a remarkable ACVRL1 germinal and somatic mosaicism characterized by the presence of two distinct mutant alleles and a non‐mutant ACVRL1 allele in a woman diagnosed with PAH at the age 40. She also met the Curaçao diagnostic criteria for HHT based on additional findings of telangiectases, epistaxis and arteriovenous malformations. Mutation analysis of ACVRL1 identified two adjacent heterozygous deleterious mutations within exon 10: c.1388del (p.Gly463fsX2) and c.1390del (p.Leu464X) in a region enriched by mutation‐associated DNA motifs. The mother transmitted the c.1388del to one child and the c.1390del to two children confirming germinal mosaicism. Allele‐specific polymerase chain reaction analysis showed that c.1388del is the predominant mutation in lymphocytes of the index case. Haplotype analysis revealed that both mutant alleles have a common chromosomal origin which is distinct from that of the mother's non‐mutant ACVRL1 allele. These distinct mutant alleles in tissues and germline could have arisen by DNA structure‐mediated events occurring in the early stages of the mother's embryogenesis, prior to the segregation of her germline, which ultimately led to the independent transmission of each allele. These highlight the complexity of genomic events occurring during early embryogenesis and the consequences of mutational mosaicism upon pathogenic variability.
Genetics of aluminium tolerance in chickpea (Cicer arietinum)
Authors: Singh Dharmendra , Raje Ranjeet S. 
Published: June 2011

With 5 figures and 6 tablesAbstractAn understanding of the inheritance of aluminium (Al) tolerance is important to breed for Al‐tolerant genotypes of chickpea (Cicer arietinum L.). Therefore, a study was undertaken to infer genes governing Al tolerance in chickpea. Tolerant lines ‘ICC14880’ and ‘IPC92‐39’ were crossed with sensitive lines ‘IPCK96‐3’ and ‘IPC99‐4’. Parental, F1, F2, F3 and backcross generations were evaluated in a nutrient solution containing 20 ppm Al for haematoxylin staining and root re‐growth and classified for tolerance by staining of root tips and root re‐growth. The F1 hybrids responded similarly to the tolerant parents indicating dominance of Al tolerance over sensitivity. Segregation for tolerance vs. sensitivity in F2 fitted well with the 3 : 1 ratio expected for a single gene. The backcross and F3 data confirmed the presence of single dominant gene common in tolerant parents. Experimental findings showed that Al tolerance is a monogenic dominant trait that can be easily transferred to high yielding lines through a backcross breeding.
Calcareous nannofossil biostratigraphic study of forearc basin sediments: Lower to Upper Cretaceous Budden Canyon Formation (Great Valley Group), northern California, USA
Authors: FERNANDO ALLAN GIL S. , NISHI HIROSHI , TANABE KAZUSHIGE , MORIYA KAZUYOSHI , IBA YASUHIRO , KODAMA KAZUTO , MURPHY MICHAEL A. , OKADA HISATAKE 
Published: June 2011

AbstractThe results of a calcareous nannofossil biostratigraphic investigation of the North Fork Cottonwood Creek section of the Budden Canyon Formation (BCF; Hauterivian–Turonian) in northern California are summarized using the Boreal – cosmopolitan Boreal Nannofossil Biostratigraphy (BC) – Upper Cretaceous Nannofossil Biostratigraphy (UC) nannofossil zonal schemes of Bown et al. and Burnett et al. Sixteen intervals, ranging from the BC15 to UC8 zones, were established in the section. Combined biostratigraphic and magnetostratigraphic studies suggest a Hauterivian to mid‐Turonian age for the studied sequence. The Hauterivian–Barremian, Barremian–Aptian, Aptian–Albian, Albian–Cenomanian, and Cenomanian–Turonian stage boundaries were delineated near the top of the Ogo Member, below the Huling Sandstone Member, within the upper Chickabally Member, in the upper portion of the Bald Hills Member and within the Gas Point Member, respectively. Unconformities probably exist at the base of the Huling Sandstone Member and the upper part of the upper Chickabally Member. The nannofossil assemblage in the North Fork Cottonwood Creek suggests that the study area was under the influence of cold‐water conditions during the Barremian to Lower Aptian interval, shifting to tropical/warm‐water conditions during the Albian to Turonian interval as a result of the mid‐Cretaceous global warming. Although oceanic anoxic events have not yet been reported in the BCF, preliminary total organic carbon, along with nannofossil data, suggest the presence of the global Cenomanian–Turonian boundary oceanic anoxic event 2.
Partial longitudinal resection of the anorectum and sphincter for very low rectal adenocarcinoma: a surgical approach to avoid permanent colostomy
Authors: Cong J. C. , Chen C. S. , Zhang H. , Qiao L. , Liu E. Q. 
Published: June 2011

AbstractAim  Abdominoperineal resection has been the standard procedure for low rectal cancer. The present study details a new technique, partial longitudinal resection of the anorectum and sphincter, and assesses the oncological and functional outcomes.Method  Between January 2004 and April 2008, 12 patients underwent partial longitudinal resection of the anorectum and sphincter for low rectal cancer. All patients underwent a diverting ileostomy and received biofeedback training before stoma closure. Functional results were assessed by vector manometry, Wexner constipation score and Wexner incontinence score. The quality of life (QoL) was assessed using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ‐C30).Results  There was no postoperative mortality and a R0 curative resection was confirmed in every case. Morbidity included anastomotic leakage in three patients, one of whom underwent reoperation, and stenosis in 11, which was successfully managed with dilatation. The patient who underwent reoperation was not included in the functional analysis. The 11 successful patients received biofeedback training for 1–4 months, and underwent ileostomy closure 6–12 months after surgery. No patient had severe faecal incontinence after stoma closure. The EORTC QLQ‐C30 global health status and QoL scores at 12 months after stoma closure were 50.4 ± 24.3, similar to preoperation scores of 52.3 ± 25.6 (P = 0.927), and not significantly different to scores for the healthy control population of 63.4 ± 23.5 (P = 0.539). No patients developed local recurrence during the median observation period (35.5 months). One patient had distant metastases at 24 months, and underwent resection of the left liver.Conclusion  Curability and acceptable anal function can be obtained by partial longitudinal resection of the anorectum and sphincter in patients with very low rectal cancers. This technique is recommended as an alternative to abdominoperineal resection in patients with external sphincter muscle invasion or tumours located below the dentate line.
Marijuana‐induced recurrent acute coronary syndrome with normal coronary angiograms
Authors: SAFAA ALI M. , MARKHAM RYAN , JAYASINGHE ROHAN 
Published: June 2011

AbstractWe report a case of a man in his 40s presented to the emergency department twice, 1 month apart, with severe ischaemic sounding chest pain within 1 h of smoking marijuana on both occasions. He had elevated serial biomarkers and ischaemic electrocardiogram changes. His coronary angiograms on both episodes were entirely normal along with normal echocardiogram. This potentially suggests a coronary vasospasm as an underlying mechanism for these non‐ST elevation myocardial infarctions. This should alert clinicians and the public alike to this potential risk of cannabis use.[Safaa AM, Markham R, Jayasinghe R. Marijuana‐induced recurrent acute coronary syndrome with normal coronary angiograms. Drug Alcohol Rev 2012;31:91–94]
Privatising Foster Care: The UK Experience within an International Context
Authors: Sellick Clive 
Published: June 2011

AbstractFoster placements for children in care in the UK are being increasingly provided by non‐governmental organizations. However, although local authorities are purchasing almost one third of their required placements from these external agencies, the UK has not yet followed the examples of other English speaking countries. In parts of the USA and Australia all fostering and other child welfare services have been wholly outsourced or transferred from the public to private and non‐profit organizations. A number of these initiatives have been independently evaluated and some of their findings resonate with what seems to be happening in the UK. This article explores these but also other factors which appear to distinguish the policy and practice of foster care in the UK from those of the USA and Australia. Using theory related to the privatization of welfare and relevant domestic and international research, the article examines the development of external commissioning of foster care in Britain. In the light of changing law, ideology and policy, the article concludes by speculating on how the future of fostering and wider child welfare provision in the UK may look, at a time of political change and economic austerity.
Corporate Governance and the Value of Excess Cash Holdings of Large European Firms
Authors: Schauten Marc B.J. , van Dijk Dick , van der Waal Jan‐Paul 
Published: June 2011

AbstractWe examine the relation between the quality of corporate governance and the value of excess cash for large publicly listed European firms from common‐law and civil‐law countries. Besides different law origins, we distinguish different dimensions of corporate governance by using ratings for the quality of Shareholder rights, Takeover defences, Disclosure and Board structure. We find that the value of excess cash is positively related to the Takeover defences score only. This finding is mainly driven by firms from common‐law countries. If we focus on changes in the level of excess cash, we do find significant effects for civil‐law country firms, where the marginal value of €1 of excess cash in a poorly governed firm is only €0.78 while the value is €1.10 for a good governed firm. We furthermore show that the spending of excess cash by poorly governed firms has a negative impact on their operating performance.
The development of a blended learning approach to delivering information skills training to large health related student audiences with limited staff resource
Authors: Ware Fiona 
Published: June 2011

AbstractThis feature considers the challenges that academic librarians are increasingly being faced with in the delivery of information skills training to large student numbers with limited time and staff resources. A case study is presented of how an academic liaison librarian used a blended learning approach and innovative teaching practice to successfully deliver information skills training to large student numbers within the Faculty of Health and Social Care at Hull University.HS
Maternal hepatitis B and hepatitis C carrier status and perinatal outcomes
Authors: Connell Laura E. , Salihu Hamisu M. , Salemi Jason L. , August Euna M. , Weldeselasse Hanna , Mbah Alfred K. 
Published: June 2011

AbstractBackground and aims: To examine the association between maternal hepatitis B and C mono‐ and co‐infections with singleton pregnancy outcomes in the state of Florida.Methods: We analysed all Florida births from 1998 to 2007 using birth certificate records linked to hospital discharge data. The main outcomes of interest were selected pregnancy outcomes including preterm birth, low birth weight (LBW), small for gestational age (SGA), fetal distress, neonatal jaundice and congenital anomaly.Results: The study sample consisted of 1 670 369 records. Human immunodeficiency virus co‐infection and all forms of substance abuse were more frequent in mothers with hepatitis B and C infection. After using multivariable modelling to adjust for important socio‐demographical variables and obstetric complications, women with hepatitis C infection were more likely to have infants born preterm [odds ratio (OR), 1.40; 95% confidence intervals (CI), 1.15–1.72], with LBW (OR, 1.39; 95% CI, 1.11–1.74) and congenital anomaly (OR, 1.55; 95% CI, 1.14–2.11). In addition, women with hepatitis B infection were less likely to have infants born SGA (OR, 0.79; 95% CI, 0.66–0.95).Conclusions: Our findings provide further understanding of the association between maternal hepatitis B or C carrier status and perinatal outcomes. Infants born to women with hepatitis C infection appear to be at risk for poor birth outcomes, including preterm birth, LBW and congenital anomaly.
Distinctive aquatic assemblages in water‐filled tree holes: a novel component of freshwater biodiversity in New Zealand temperate rainforests
Authors: BLAKELY TANYA J. , HARDING JON S. , DIDHAM RAPHAEL K. 
Published: June 2011

Abstract.  1. Water‐filled tree holes provide important freshwater microhabitats for a wide array of aquatic species in rainforest canopies. There is extensive indirect evidence of the distinctiveness of water‐filled tree‐hole faunas, but few direct quantitative comparisons with ground‐based freshwater habitats, in either tropical or temperate regions. Here, we explore the importance of water‐filled tree holes for aquatic invertebrate species in the temperate rainforests of New Zealand. It is well documented that freshwaters in New Zealand are dominated by relatively few ubiquitous genera, many of which are habitat generalists. The key question, therefore, is whether water‐filled tree holes in New Zealand’s temperate rainforest are also dominated by habitat generalists that typically utilise ground‐level water bodies, or whether water‐filled tree holes support habitat‐specialist species.2. Water‐filled tree holes were dominated by dipteran larvae, whereas ground‐based water bodies were dominated by mayflies, dipterans, and other arthropods. Most importantly, tree‐hole assemblage composition was markedly distinct from that of the ground‐based water bodies, with only eight (out of a total of 83) aquatic species shared in common between tree holes and adjacent ground‐based freshwater habitats.3. Although water‐filled tree holes are typically rare and patchily distributed within New Zealand’s rainforest canopies, our results show very clearly that a distinct assemblage of freshwater species has evolved to occupy these unique microhabitats. We emphasise the importance of incorporating the unique biodiversity of water‐filled tree holes into future conservation prioritisation exercises and biodiversity management plans for temperate rainforest remnants.
Diagnostic yield and efficacy of endobronchial ultrasound‐guided transbronchial needle aspiration in mediastinal lymphadenopathy
Authors: Jernlås Björn , Nyberger Henrik , Ek Lars , Öhman Ronny , Jönsson Per , Nozohoor Shahab 
Published: June 2011

AbstractIntroduction:  Endobronchial ultrasound transbronchial needle aspiration (EBUS‐TBNA) is an emerging minimally invasive option for pathologic examination of intrathoracic lymphadenopathy as well as for staging lung cancer.Objectives:  To evaluate the diagnostic yield and possible learning curve effects on diagnostic performance using EBUS‐TBNA in mediastinal lymphadenopathy.Methods:  A retrospective analysis was performed on 243 consecutive patients who underwent EBUS‐TBNA over a 4‐year period. Demographic and clinical data and pathology results were analysed for different time frames in order to evaluate potential learning curve effects. The procedures were performed by two experienced bronchoscopists at a single university medical centre.Results:  Samples were representative in 83% (200/243) of the patients. The overall diagnostic yield was 66% (n = 161/243). The diagnostic accuracy of EBUS‐TBNA for detecting malignancy was 98.0% and for lung cancer 98.5%. The sensitivity, specificity, positive and negative predictive values for lung cancer stage ≥N1 and malignant disease were 100% for the first three studied periods and slightly less favourable in the most recent study period. Representative samples were obtained more frequently in the latter study periods (P < 0.001).Conclusion:  EBUS‐TBNA is a safe method with a learning curve that is easily overcome, although previous experience with ultrasound may be necessary. The diagnostic yield of EBUS‐TBNA is in accordance with previously reported yield of standard cervical mediastinoscopy. At present, however, the relationship between EBUS‐TBNA and mediastinoscopy appears to be complementary rather than substitutive.Please cite this paper as: Jernlås B, Nyberger H, Ek L, Öhman R, Jönsson P and Nozohoor S. Diagnostic yield and efficacy of endobronchial ultrasound‐guided transbronchial needle aspiration in mediastinal lymphadenopathy. Clin Respir J 2012; 6: 88–95.
Pemetrexed in malignant pleural mesothelioma and the clinical outcome
Authors: Knuuttila Aija , Salomaa Eija‐Riitta , Saikkonen Suvi , Hurme Saija , Salo Jarmo 
Published: June 2011

AbstractIntroduction:  Pemetrexed has emerged as standard chemotherapy for malignant pleural mesothelioma (MPM).Objectives:  MPMs at two Finnish University Hospitals during 7 years (2000–2006) were reviewed in order to evaluate the treatments, survival and prognostic factors. The results in two periods (before pemetrexed use in 2000–2002 and with pemetrexed in 2003–2006) were compared.Methods:  Data were collected from the individual patient records retrospectively, and analysed.Results:  Altogether 197 patients were diagnosed with following histologies: 136 (69%) epithelioid, 19 (10%) sarcomatoid, 17 (9%) mixed, 25 (13%) not specified; 141 (72%) patients received treatment (five extrapleural pneumonectomy, 36 pleurectomy/decortication, 126 chemotherapy). Median survival was 12.9 months and the 1‐, 2‐ and 3‐year survivals were 51.8%, 21.8% and 12.1%, respectively. Univariate analysis showed no significant difference in survival between the patients diagnosed before or during the pemetrexed era (P = 0.124). The patients receiving pemetrexed or other chemotherapy had median survivals of 16.7 and 15.3 months, respectively. The independent prognostic factors for survival were histology and asbestos exposure. Non‐epithelioid histology yielded 17 times higher risk of dying than epithelioid. Asbestos exposure doubled the risk of dying, but only in patients diagnosed in 2003–2006.Conclusions:  Pemetrexed is beneficial for selected patients, but it has not changed the outcome of the whole MPM population as much as perhaps anticipated. Patient groups with various treatments or symptomatic care only reached survival results comparable to those reported in chemotherapy trials, thus emphasising the need for better subtyping of mesothelioma and individualising the treatment.Please cite this paper as: Knuuttila A, Salomaa E‐R, Saikkonen S, Hurme S and Salo J. Pemetrexed in malignant pleural mesothelioma and the clinical outcome. Clin Respir J 2012; 6: 96–103.
Genetic variations in detoxification enzymes and HIF‐1α in Japanese patients with COPD
Authors: Putra Andika Chandra , Tanimoto Keiji , Arifin Marina , Antariksa Budhi , Hiyama Keiko 
Published: June 2011

AbstractIntroduction:  Genetic factors contribute as major determinants in the pathophysiological mechanisms of chronic obstructive pulmonary disease (COPD). Therefore, identification of candidate genes and various gene polymorphisms have improved our understanding of COPD.Objectives:  Clarify the genes, including HIF1A, that contribute to the development of COPD.Methods:  We compared the genotype frequencies of 12 polymorphisms in seven detoxification‐related genes (GSTM1, GSTT1, GSTP1 exon 5, CYP1A1 exon 7, CYP1A1 3′‐flanking, CYP2E1 intron 6, CYP2E1 5′‐flanking, EPHX1 exon 3, EPHX1 exon 4 and HMOX1 promoter) and the hypoxia‐related HIF1A (C1772T and G1790A) genes between 48 Japanese patients with work‐related COPD who had a working history in a poison gas factory during World War II and two control groups (n = 172 and 110 subjects, respectively).Results:  As expected, wild homozygotes for GSTP1 Ile105Val and EPHX1 slow/very slow phenotypes were associated with susceptibility (P = 0.031) and severity (P = 0.036) of COPD, respectively. Moreover, compound heterozygosity of transcription‐activating HIF1A polymorphisms was observed in two patients with COPD, but not in control individuals (P = 0.091).Conclusion:  This is the first report that examined HIF1A polymorphisms in COPD and demonstrated a possible role of HIF‐1α in COPD, as well as GSTP1 and EPHX1.Please cite this paper as: Putra AC, Tanimoto K, Arifin M, Antariksa B and Hiyama K. Genetic variations in detoxification enzymes and HIF‐1α in Japanese patients with COPD. Clin Respir J 2013; 7: 7–15.