bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract
Authors: Miller George , Socci Nicholas D , Dhall Deepti , D'Angelica Michael , DeMatteo Ronald P , Allen Peter J , Singh Bhuvanesh , Fong Yuman , Blumgart Leslie H , Klimstra David S , Jarnagin William R 
Published: May 2012

AbstractBackgroundThe pathogenesis of biliary cancers is ill-defined. This study investigates changes in gene expression and copy number in biliary cancers and correlates these changes with anatomical site of origin, histopathology and outcome.MethodsWe performed gene expression and CGH analysis on 34 biliary tract cancer specimens. Results were confirmed by RT-PCR. Clinical-pathologic correlation was made using functional over-representation analysis of the top 100 mutations associated with each variable.ResultsThere were 545 genes with altered expression in extrahepatic cholangiocarcinoma, 2,354 in intrahepatic cholangiocarcinoma, and 1,281 in gallbladder cancer. Unsupervised hierarchical clustering analysis indicated there was no difference in the global gene expression patterns between each biliary cancer subgroup. CGH analysis revealed that short segments of chromosomes 1p, 3p, 6q, 8p, 9p, and 14q were commonly deleted across all cancer subtypes. Commonly amplified regions included segments of 1q, 3q, 5p, 7p, 7q, 8q, and 20q. Over-representation analysis revealed an association between altered expression of functional gene groupings and pathologic features.ConclusionThis study defined regions of the genome associated with changes in DNA copy number and gene expression in specific subtypes of biliary cancers. The findings have implications for identification of therapeutic targets, screening, and prognostication.
Synergistic effect of simvastatin and ezetimibe on lipid and pro-inflammatory profiles in pre-diabetic subjects
Authors: Kater Ana-Lucia A , Batista Marcelo C , Ferreira Sandra RG 
Published: May 2012

AbstractBackgroundEzetimibe specifically blocks the absorption of dietary and biliary cholesterol and plant sterols. Synergism of ezetimibe-statin therapy on LDL-cholesterol has been demonstrated, but data concerning the pleiotropic effects of this combination are controversial.ObjectiveThis open-label trial evaluated whether the combination of simvastatin and ezetimibe also results in a synergistic effect that reduces the pro-inflammatory status of pre-diabetic subjects.MethodsFifty pre-diabetic subjects were randomly assigned to one of 2 groups, one receiving ezetimibe (10 mg/day), the other, simvastatin (20 mg/d) for 12 weeks, followed by an additional 12-week period of combined therapy. Blood samples were collected at baseline, 12 and 24 weeks. RESULTS: Total cholesterol, LDL-cholesterol and apolipoprotein B levels decreased in all the periods analyzed (p < 0.01), but triglycerides declined significantly only after combined therapy. Both drugs induced reductions in C-reactive protein, reaching statistical significance after combining ezetimibe with the simvastatin therapy (baseline 0.59 ± 0.14, simvastatin monotherapy 0.48 ± 0.12 mg/dL and 0.35 ± 0.12 mg/dL, p < 0.023). Such a reduction was independent of LDL-cholesterol change. However, mean levels of TNF-α and interleukin-6 and leukocyte count did not vary during the whole study.ConclusionExpected synergistic lowering effects of a simvastatin and ezetimibe combination on LDL-cholesterol, apolipoprotein B and triglycerides levels were confirmed in subjects with early disturbances of glucose metabolism. We suggest an additive effect of this combination also on inflammatory status based on the reduction of C-reactive protein. Attenuation of pro-inflammatory conditions may be relevant in reducing cardiometabolic risk.Title/ID of trial registrationEffect of simvastatin and ezetimibe on lipid and inflammation/NCT01103648.
Naturally occurring variations in sequence length creates microRNA isoforms that differ in argonaute effector complex specificity
Authors: Ebhardt H Alexander , Fedynak Amber , Fahlman Richard P 
Published: May 2012

Abstract

Background
Micro(mi)RNAs are short RNA sequences, ranging from 16 to 35 nucleotides (miRBase; http://www.mirbase.org). The majority of the identified sequences are 21 or 22 nucleotides in length. Despite the range of sequence lengths for different miRNAs, individual miRNAs were thought to have a specific sequence of a particular length. A recent report describing a longer variant of a previously identified miRNA in Arabidopsis thaliana prompted this investigation for variations in the length of other miRNAs.

Results
In this paper, we demonstrate that a fifth of annotated A. thaliana miRNAs recorded in miRBase V.14 have stable miRNA isoforms that are one or two nucleotides longer than their respective recorded miRNA. Further, we demonstrate that miRNA isoforms are co-expressed and often show differential argonaute complex association. We postulate that these extensions are caused by differential cleavage of the parent precursor miRNA.

Conclusions
Our systematic analysis of A. thaliana miRNAs reveals that miRNA length isoforms are relatively common. This finding not only has implications for miRBase and miRNA annotation, but also extends to miRNA validation experiments and miRNA localization studies. Further, we predict that miRNA isoforms are present in other plant species also.
Case Report: Familial Gastric Cancer and Chordoma in the Same Family
Authors: Weber Walter , Scott Rodney J. 
Published: May 2012

Abstract
Gastric cancers are the second most common malignancy in the world and represent a major burden to all societies even though the incidence of disease is decreasing in the industrialized world. The aetiology of the disease is complex and is believed to be primarily due to environmental factors but a small proportion of cases are recognised as being associated with genetic factors. Two inherited forms of stomach cancer have been identified, one which is associated with familial clusterings of stomach cancer and the other being a subgroup of families that belong to hereditary non polyposis colorectal cancer (or Lynch syndrome). In this report we present a small nuclear family which is unusual in that there is a clustering of malignancy which includes stomach cancer, colorectal cancer and chordoma. Genetic analysis failed to reveal any causative mutation in genes associated with HNPCC or in E-cadherin. Together, the clinical picture in this family may indicate that other genetic factors are behind this family's clustering of malignancy.
Patient Perspective on the Value of Genetic Counselling for Familial Pancreas Cancer
Authors: Axilbund Jennifer E. , Brune Kieran A. , Canto Marcia I. , Brehon Brenda C , Wroblewski Lori D. , Griffin Constance A. 
Published: May 2012

Abstract

Purpose
To assess patient views regarding the value of genetic counselling for familial pancreas cancer in the absence of predictive genetic testing.

Patients and methods
At-risk adults with three or more relatives with pancreas cancer received genetic counselling prior to research screening via endoscopic ultrasound. Questionnaires were mailed after the visit to assess perceived value of the counselling session.

Results
Ninety-three percent of respondents felt genetic counselling for pancreas cancer was helpful despite the lack of a causative gene, while only 7% felt that it should not be offered until such a gene is discovered. Over half of respondents believed the pancreas cancer in their family was caused by a gene mutation, and 42% thought they had inherited the mutation. The average perceived lifetime risk of developing pancreas cancer was 51%, and 87% of respondents would ultimately seek predictive genetic testing. When more information is gained, 89% would be interested in another genetic counselling session, and 82% would recommend current genetic counselling for pancreas cancer to a friend or relative with a family history of the disease.

Conclusion
Despite the lack of an identified major causative gene for pancreas cancer, respondents found genetic counselling for this malignancy to be helpful. These patients perceive their personal cancer risk to be high, and would seek predictive genetic testing if it were available. Referral for genetic counselling should be offered to appropriate individuals.
Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients
Authors: Friedl Waltraut , Aretz Stefan 
Published: May 2012

Abstract
The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive MUTYH-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.
Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India
Authors: Rajkumar T , Soumittra N , Vidubala E , Sridevi V , Mahajan V , Ramanan SG , Vijaya S 
Published: May 2012

Abstract
Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers. In India there is a paucity of data on hereditary cancers and the mutations in some of the common genes linked to hereditary cancers, such as BRCA1, BRCA2, hMSH2 and hMLH1. The country's first comprehensive hereditary cancer clinic was established in February 2002. The article describes the organization and running of the Clinic. It also discusses some of the social issues relevant to the given population in running the Hereditary Cancer Clinic.
Genetic and Preventive Services for Hereditary Breast and Ovarian Cancer in the Czech Republic
Authors: Foretova Lenka , Petrakova Katarina , Palacova Marketa , Kalabova Renata , Navratilova Marie , Lukesova Miroslava , Vasickova Petra , Machackova Eva , Kleibl Zdenek , Pohlreich Petr 
Published: May 2012

Abstract
The majority of hereditary breast and ovarian cancers can be accounted for by germline mutations in the BRCA1 and BRCA2 genes. Genetic counselling and testing in high-risk patients in the Czech Republic began in 1997 in two centres (Masaryk Memorial Cancer Institute in Brno, MMCI, and the General University Hospital plus the First Faculty of Medicine, Charles University in Prague, 1FMUK). Health insurance covers testing in MMCI, whereas testing at 1FMUK is covered by research grants. The spectrum of mutations in the BRCA1 gene is similar in the Bohemian (western) and Moravian (eastern) regions of the country but the mutation spectrum observed in the BRCA2 gene is completely different. There are three BRCA1 gene mutations that are responsible for 69% and 70.4% of all BRCA1 mutations identified in women reporting to the Brno and Prague centres, respectively. The two most frequent mutations in the BRCA2 gene, which comprises 41.5% of all detected BRCA2 mutations in Brno, were not found in women tested in the Prague centre. The testing of BRCA1/BRCA2 or other possible predisposition genes for hereditary breast/ovarian cancer is determined by medical geneticists after genetic counselling. Predictive testing is offered to persons older than 18 years of age. Genetic counselling centres are easily accessible to all inhabitants in the country. Specialized preventive care is mostly organized by MMCI and the General University Hospital in Prague; however, some patients and their family members are under the care of other oncology departments and clinics. The quality of preventive care in different hospitals is currently being investigated.
Brain natriuretic peptide for prediction of mortality in patients with sepsis: a systematic review and meta-analysis
Authors: Wang Fei , Wu Youping , Tang Lu , Zhu Weimin , Chen Feng , Xu Tao , Bo Lulong , Li Jinbao , Deng Xiaoming 
Published: May 2012

Abstract
Introduction
Early identification of septic patients at high risk of dying remains a challenge. The prognostic role of brain natriuretic peptide (BNP) or N-terminal pro-B-type natriuretic peptide (NT-proBNP) in septic patients remains controversial. The purpose of this systematic review and meta-analysis was to investigate the value of elevated BNP or NT-proBNP in predicting mortality in septic patients.

Methods
PubMed, Embase and the Cochrane Central Register of Controlled Trials were searched (up to February 18, 2011). Studies were included if they had prospectively collected data on all-cause mortality in adult septic patients with either plasma BNP or NT-proBNP measurement. Studies that failed to construct a 2 × 2 table of results were excluded. Two authors independently determined the validity of included studies and extracted data.

Results
12 studies with a total of 1,865 patients were included. Elevated natriuretic peptides were significantly associated with increased risk of mortality (odds ratio (OR) 8.65, 95% confidence interval (CI) 4.94 to 15.13, P < 0.00001). The association was consistent for BNP (OR 10.44, 95% CI 4.99 to 21.58, P < 0.00001) and NT-proBNP (OR 6.62, 95% CI 2.68 to 16.34, P < 0.0001). The pooled sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio were 79% (95% CI 75 to 83), 60% (95% CI 57 to 62), 2.27 (95% CI 1.83 to 2.81) and 0.32 (95% CI 0.22 to 0.46), respectively.

Conclusions
Our results suggested that an elevated BNP or NT-proBNP level may prove to be a powerful predictor of mortality in septic patients. Future larger and more adequately powered prospective studies are warranted to clarify the assay standardization, the optimal cut-off, and the prognostic value of BNPs in conjunction with other biomarkers.
Adjustment disorders in primary care: prevalence, recognition
and use of services
Authors: Fernández Anna , Mendive Juan M. , Salvador-Carulla Luis , Rubio-Valera María , Luciano Juan Vicente , Pinto-Meza Alejandra , Haro Josep Maria , Palao Diego J. , Bellón Juan A. , Serrano-Blanco Antoni ,   the DASMAP investigators
Published: May 2012

BackgroundWithin the ICD and DSM review processes there is growing debate on the
future classification and status of adjustment disorders, even though
evidence on this clinical entity is scant, particularly outside
specialised care.AimsTo estimate the prevalence of adjustment disorders in primary care; to
explore whether there are differences between primary care patients with
adjustment disorders and those with other mental disorders; and to
describe the recognition and treatment of adjustment disorders by general
practitioners (GPs).MethodParticipants were drawn from a cross-sectional survey of a representative
sample of 3815 patients from 77 primary healthcare centres in Catalonia.
The prevalence of current adjustment disorders and subtypes were assessed
face to face using the Structured Clinical Interview for DSM-IV Axis I
Disorders (SCID-I). Multilevel logistic regressions were conducted to
assess differences between adjustment disorders and other mental
disorders. Recognition and treatment of adjustment disorders by GPs were
assessed through a review of patients' computerised clinical
histories.ResultsThe prevalence of adjustment disorders was 2.94%. Patients with
adjustment disorders had higher mental quality-of-life scores than
patients with major depressive disorder but lower than patients without
mental disorder. Self-perceived stress was also higher in adjustment
disorders compared with those with anxiety disorders and those without
mental disorder. Recognition of adjustment disorders by GPs was low: only
2 of the 110 cases identified using the SCID-I were detected by the GP.
Among those with adjustment disorders, 37% had at least one psychotropic
prescription.ConclusionsAdjustment disorder shows a distinct profile as an intermediate category
between no mental disorder and affective disorders (depression and
anxiety disorders).
CT and MRI findings of thoracic ganglioneuroma
Authors: Guan Y B , Zhang W D , Zeng Q S , Chen G Q , He J X 
Published: May 2012

Objective: Thoracic ganglioneuroma is sporadic and rarely reported. Pre-operative misdiagnosis often occurs in clinical practice. To improve diagnostic accuracy and facilitate differential diagnosis, we summarised the CT and MRI findings of thoracic ganglioneuroma.
Methods: 22 cases of thoracic ganglioneuroma confirmed by surgery and pathology were retrospectively analysed in terms of CT (16 cases) and MRI data (6 cases).
Results: Of 22 lesions, 19 occurred in the posterior mediastinum, 2 in the lateral pleura and 1 in the right chest. The CT value of the plain scans ranged from 20 to 40 HU (mean 29.1 HU) in 16 cases. Punctate calcification was noted in four cases. Patchy fat density shadow was found in one case. Arterial-phase CT found nearly no enhancement (6 cases) or slight enhancement (10 cases) with a CT value of 0–12 HU (mean 5.8 HU). In the delayed phase, enhancement was strengthened progressively, and CT value of 10–20 HU (mean 13.6 HU) was achieved after 120 s. T 1 weighted images showed homogeneous hypointense signals in five cases and hypointense signals mixed with patchy hyperintense signal shadow in one case. T 2 weighted images demonstrated heterogeneous hyperintense signals in all six cases, of which the whorled appearance was noted in one case. Gadolinium-diethylenetriaminepentaacetic acid (Gd-DTPA)-enhanced MRI found mildly heterogeneous enhancement in the arterial phase, and progressive mild enhancement in the delayed phase.
Conclusion: Thoracic ganglioneuroma shows hypodensity in plain CT. On CT and MRI, non-enhancement or slight enhancement in artery phase and progressive mild enhancement in delay phase are characteristic manifestations of ganglioneuroma in the thorax.
Implementing a Strategy for Economic Reform: An Assessment of Nigeria's Privatization Program
Authors: Adogamhe Paul G. 
Published: May 2012

AbstractThe Nigerian Government re‐launched a program of privatization in 1999 with the aim of reducing government's participation in business management, attracting foreign and local investments, transferring of technology and skills into the public enterprises in order to create more jobs and boost economic growth. This policy thrust was based on the premise that private investment and business initiative would result in improved profitability, greater efficiency, and the promotion of rapid economic expansion. This paper examines the merits of the above hypothesis, noting the unanticipated legal, economic, and political dilemmas that came to be associated with the implementation of the privatization program in Nigeria. The program appears to have been a major failure through the very poor net returns on investments from the sale/concessioning of the enterprises, loss of several jobs, corruption through process default and new economic dangers from its infraction of creating monopolies/oligopolies in sensitive economic sectors. Therefore, the paper recommends that there is urgent need to rethink the process of reforming the public enterprise sector in Nigeria in order to tackle corruption, review the Public Enterprises Act of 1999 and other laws for assuring competitive business environment as well as improve transparency and accountability in public governance.
Does Early Voting Change the Socio‐Economic Composition of the Electorate?
Authors: Kropf Martha E. 
Published: May 2012

AbstractPolitical representation should be a key issue for poverty scholars. Schattschneider said more than 30 years ago, “[t]he flaw in the pluralist heaven is that the heavenly chorus sings with a strong upper‐class accent.” How do election reforms affect the composition of the electorate? In 2005, Adam Berinsky made the argument that election reforms such as early voting magnify the existing socioeconomic bias in the electorate. This occurs because early voting may retain those who comprise the highest SES, rather than stimulating the turnout of new voters who may be of lower SES status. This paper advances a test of Berinsky's hypothesis by examining early voting in North Carolina in 2008 using the state's voter registration database. The analysis shows that despite on‐the‐ground mobilization efforts, those who voted early were primarily those of higher income who had been registered a long time, though they were not necessarily those who had voted habitually in the past. Normatively, this work raises questions about who has access to the franchise and who appears to be left behind.
Blood biochemical markers of bone turnover: pre-analytical and technical aspects of sample collection and handling
Authors: Lombardi Giovanni , Lanteri Patrizia , Colombini Alessandra , Banfi Giuseppe 
Published: May 2012

AbstractCasual or systematic errors occurring in pre-analytical, analytical or post-analytical phases influence laboratory test results. The areas where pre-analytical phase errors most often arise are: timing of specimen collection; selection of specimen type; and time and temperature of storage/transport. Bone turnover markers are clinically useful in evaluating bone metabolism. Although unquestionably valuable tools, little is known about the pre-analytical precautions for their correct use and there is no consensus on kind of sample, or storage time and temperature before analysis. Moreover, biological variability, because of uncontrollable and controllable factors, will affect pre-analytical variability. Serum should be preferred to simplify blood drawing; therefore, only one tube should be used for the analysis of all bone markers. Short-term storage at 4°C may be advisable to preserve stability, immediate storage at –70°C is recommended for longer periods, while avoiding repeated freeze-thawing cycles. Sampling should be performed in the morning in fasting subjects who have abstained from physical exercise for 24 h. This review aimed to give a knowledge update on pre-analytical phase precautions in performing bone turnover marker measurement.
Population-based pediatric reference intervals for general clinical chemistry analytes on the Abbott Architect ci8200 instrument
Authors: Ridefelt Peter , Aldrimer Mattias , Rödöö Per-Olof , Niklasson Frank , Jansson Leif , Gustafsson Jan , Hellberg Dan 
Published: May 2012

AbstractReference intervals are crucial decision-making tools aiding clinicians in differentiating between healthy and diseased populations. However, for children such values often are lacking or incomplete.Blood samples were obtained from 692 healthy children, aged 6 months to 18 years, recruited in daycare centers and schools. Twelve common general clinical chemistry analytes were measured on the Abbott Architect ci8200 platform; sodium, potassium, chloride, calcium, albumin-adjusted calcium, phosphate, magnesium, creatinine (Jaffe and enzymatic), cystatin C, urea and uric acid.Age- and gender specific pediatric reference intervals were defined by calculating the 2.5th and 97.5th percentiles.The data generated is primarily applicable to a Caucasian population when using the Abbott Architect platform, but could be used by any laboratory if validated for the local patient population.