bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy
Authors: Cavalleri Gianpiero L. , Walley Nicole M. , Soranzo Nicole , Mulley John , Doherty Colin P. , Kapoor Ashish , Depondt Chantal , Lynch John M. , Scheffer Ingrid E. , Heils Armin , Gehrmann Anne , Kinirons Peter , Gandhi Sonia , Satishchandra Parthasarathy , Wood Nicholas W. , Anand Anuranjan , Sander Thomas , Berkovic Samuel F. , Delanty Norman , Goldstein David B. , Sisodiya Sanjay M. 
Published: April 2007

Summary:  Purpose: Although complex idiopathic generalized epilepsies (IGEs) are recognized to have a significant genetic component, as yet there are no known common susceptibility variants. It has recently been suggested that variation in the BRD2 gene confers increased risk of juvenile myoclonic epilepsy (JME), which accounts for around a quarter of all IGE. Here we examine the association between the candidate causal SNP (the promoter variant rs3918149) and JME in five independent cohorts comprising in total 531 JME cases and 1,390 healthy controls. Methods: The strongest candidate causal variant from the original report (rs3918149) was genotyped across all five cohorts. In an effort to identify novel candidate causal polymorphisms, previously unscreened regions of UTR were resequenced. Results: We observed a significant effect in a small sample recruited in Britain (genotype p = 0.001, allele p = 0.001), a borderline significant effect in a sample recruited in Ireland and no association in larger samples of German, Australian, and Indian populations. There was no association with other common forms of epilepsy or any other clear candidate casual variants in or near the BRD2 region. Conclusions: The replication of an effect in the British cohort and suggestive evidence from that recruited in Ireland but lack of replication from the larger German, Australian, and Indian cohorts is surprising and difficult to explain. Further replication in carefully matched populations is required. Results presented here do not, however, support a strong effect for susceptibility to JME across populations of European descent.
Methicillin-resistant Staphylococcus aureus infections among healthy full-term newborns
Authors: James L , Gorwitz R J , Jones R C , Watson J T , Hageman J C , Jernigan D B , Lord Y , Caballes N , Cortes C , Golash R G , Price J S , Gerber S I 
Published: April 2007

Objective:Methicillin-resistant Staphylococcus aureus (MRSA) strains have emerged in the community, causing disease among healthy people lacking traditional risk factors for MRSA infection. This article describes an outbreak of MRSA among healthy full-term newborns.Design:Cases were identified and corresponding medical information collected. Telephone interviews were conducted with mothers of cases ands surveillance cultures from mothers and newborns were performed. MRSA isolates were genotyped.Setting:Hospital in Chicago, Illinois, USA.Participants:Newborns, their mothers and hospital healthcare workers.Intervention:Nursery infection control practices were enhanced. The MRSA-colonised healthcare workers received intranasal mupirocin.Main outcome:Within 4–23 days of birth, 11 newborns were identified with pustules, vesicles or blisters located on the head, groin, perineum, ears, legs, chin and trunk. All received antimicrobials and recovered without incident.Results:None of 432 peripartum women, one of 399 newborns, and two of 135 healthcare workers were nasal MRSA carriers. Available isolates from six patients, two healthcare workers, and one from an MRSA-colonised newborn were similar by pulsed-field gel electrophoresis. Other than contact with the hospital, no common exposures of MRSA transmission were identified.Conclusions:MRSA strains that initially emerged in the community are now causing disease in healthcare settings. Providers should be aware that MRSA can cause skin infections among healthy newborns. Adherence to standard infection control practices is important to prevent transmission of MRSA in nurseries.
Upregulation of neutrophil gelatinase-associated lipocalin in oesophageal squamous cell carcinoma: significant correlation with cell differentiation and tumour invasion
Authors: Zhang Haihua , Xu Liyan , Xiao Dawei , Xie Jianjun , Zeng Hongmei , Wang Zhaoyang , Zhang Xiaoling , Niu Yongdong , Shen Zhongying , Shen Jinghui , Wu Xuan , Li Enmin 
Published: April 2007

Background:Neutrophil gelatinase-associated lipocalin (NGAL) is a member of the lipocalin family. Recently, an elevated NGAL expression was reported in several types of cancers. However, the characteristics of NGAL expression in oesophageal squamous cell carcinoma (ESCC) are still unknown.Aim:To demonstrate the role of NGAL in ESCC.Methods:NGAL expression in 81 paraffin sections, including ESCC, normal mucosa, simple hyperplasia and dysplasia, and in 73 fresh specimens of ESCC was analysed by immunohistochemistry, western blot and gelatin zymography.Results:On immunohistochemical study, ESCC showed a diverse staining pattern for NGAL. However, only a weak positive signal was present within a restricted cytoplasmic area in the normal oesophageal epithelium. In dysplasia, altered NGAL expression could also be observed. On western blot study, NGAL expression level was found to be significantly higher in ESCC than in normal mucosa (p = 0.030), and to be positively correlated with cell differentiation. However, no significant association was observed between NGAL expression and cell proliferation. In addition, the enzymic activity of the NGAL/matrix metalloproteinase 9 complex was much higher in ESCC than in normal mucosa, and was significantly correlated with the depth of tumour invasion in zymography analysis (p = 0.006).Conclusions:The findings suggest that NGAL is involved in the differentiation pathway and invasive progression of ESCC.
Altered gastric corpus expression of tissue inhibitors of metalloproteinases in human and murineHelicobacterinfection
Authors: Bodger K , Ahmed S , Pazmany L , Pritchard D M , Micheal A , Khan A L , Dimaline R , Dockray G J , Varro A 
Published: April 2007

Background:Matrix metalloproteinases (MMPs) have roles in inflammation and other processes relevant to the architectural disturbances seen in the gastric mucosa in response toHelicobacter pyloriinfection. Upregulation of MMPs has been reported inH pyloriinfection, but there are no detailed reports regarding altered production of their inhibitors, the tissue inhibitors of metalloproteinases (TIMPs).Aims:To investigate changes in the abundance of TIMPs in human gastric corpus mucosa and murine stomach inHelicobacterinfection, and to study cellular sources in man.Methods:Gastric corpus biopsy samples were assessed for abundance of mRNA or protein for TIMP-1 to -4 by real-time quantitative PCR or western blotting, respectively. Antral and corpus biopsies were processed for histology,H pyloristatus and inflammatory scoring. Cellular sources of TIMP-1, -3 and -4 were examined by indirect immunohistochemistry. Circulating gastrin was measured by radioimmunoassay. Also, abundance of TIMP-1, -3 and -4 mRNA in the stomach ofHelicobacter felisinfected mice post-infection was compared with that of uninfected control animals.Results:Compared with uninfected patients, mRNA and protein for TIMP-1, -3 and -4 were significantly more abundant in the gastric corpus ofH pyloriinfected subjects. Gastric TIMP expression did not differ significantly between hyper- and normogastrinaemic subjects within theH pylorinegative and positive groups. There was no difference in mRNA abundance for MMP-3 or -8. Immunohistochemistry showed TIMP proteins localised to gastric epithelial, stromal cells and inflammatory cells. MurineH felisinfection was associated with upregulation of TIMP-1 and -3 mRNA.Conclusions:Helicobacterinfection is associated with upregulation of specific TIMPs (TIMP-1 and -3) in glandular epithelium and stroma. It is suggested that increased expression of specific protease inhibitors in the corpus mucosa may exert important effects on extracellular matrix remodelling and influence the outcome ofH pyloriinfection.
Medulloblastomas Derived from Cxcr6 Mutant Mice Respond to Treatment with a Smoothened Inhibitor
Authors: Sasai Ken , Romer Justyna T. , Kimura Hiromichi , Eberhart Derek E. , Rice Dennis S. , Curran Tom 
Published: April 2007

Abstract
The sonic hedgehog (Shh) pathway is activated in ∼30% of human medulloblastoma resulting in increased expression of downstream target genes. In about half of these cases, this has been shown to be a consequence of mutations in regulatory genes within the pathway, including Ptc1, Smo, and Sufu. However, for some tumors, no mutations have been detected in known pathway genes. This suggests that either mutations in other genes promote tumorigenesis or that epigenetic alterations increase pathway activity in these tumors. Here, we report that 3% to 4% of mice lacking either one or both functional copies of Cxcr6 develop medulloblastoma. Although CXCR6 is not known to be involved in Shh signaling, tumors derived from Cxcr6 mutant mice expressed Shh pathway target genes including Gli1, Gli2, Ptc2, and Sfrp1, indicating elevated pathway activity. Interestingly, the level of Ptc1 expression was decreased in tumor cells although two normal copies of Ptc1 were retained. This implies that reduced CXCR6 function leads to suppression of Ptc1 thereby increasing Smoothened function and promoting tumorigenesis. We used a direct transplant model to test the sensitivity of medulloblastoma arising in Cxcr6 mutant mice to a small-molecule inhibitor of Smoothened (HhAntag). We found that transplanted tumors were dramatically inhibited in mice treated for only 4 days with HhAntag. These findings suggest that HhAntag may be effective against tumors lacking mutations in known Shh pathway genes. [Cancer Res 2007;67(8):3871–7]
Perceived Risk of Colorectal Cancer: Sources of Risk Judgments
Authors: Robb Kathryn A. , Miles Anne , Wardle Jane 
Published: April 2007

AbstractPerceived risk of disease plays a key role in health behaviors, making it an important issue for cancer-preventive behavior research. This study describes studies using complimentary methodologies to investigate the determinants of perceived risk of developing colorectal cancer. In study 1, questionnaires were mailed to a community sample of 1,056 adults ages 45 to 65 years. They assessed risk factors for colorectal cancer and perceived risk of colorectal cancer and asked respondents to explain why they had rated their risk as they had. Consistent with previous studies, risk factors for colorectal cancer were significantly correlated with perceived risk, although associations were relatively weak. The most frequently cited reasons for risk judgments were diet, family history, and symptoms/general health. Not surprisingly, correlations between each risk factor and perceived risk were stronger among participants who had attributed their risk to that factor. Study 2 used semi-structured interviews to explore individuals' explanations for their perceived risk of colorectal cancer. Adults (n = 18) ages 60 to 63 years volunteered a variety of explanations, but their experiences of cancer seemed to be most salient to their risk estimates. These studies suggest that attributions people make for their risk judgments are important in understanding how they conceptualize risk, but appreciation of experiential and affective influences may be useful in fully understanding perceptions of risk. (Cancer Epidemiol Biomarkers Prev 2007;16(4):694–702)
The Epidemiology of Arm and Hand Swelling in Premenopausal Breast Cancer Survivors
Authors: Paskett Electra D. , Naughton Michelle J. , McCoy Thomas P. , Case L. Douglas , Abbott Jill M. 
Published: April 2007

AbstractBackground: Breast cancer survivors suffer from lymphedema of the arm and/or hand. Accurate estimates of the incidence and prevalence of lymphedema are lacking, as are the effects of this condition on overall quality of life.Methods: Six hundred twenty-two breast cancer survivors (age, ≤45 years at diagnosis) were followed with semiannual questionnaires for 36 months after surgery to determine the incidence of lymphedema, prevalence of persistent swelling, factors associated with each, and quality of life.Results: Of those contacted and eligible for the study, 93% agreed to participate. Fifty-four percent reported arm or hand swelling by 36 months after surgery, with 32% reporting persistent swelling. Swelling was reported to occur in the upper arm (43%), the hand only (34%), and both arm and hand (22%). Factors associated with an increased risk of developing swelling included having a greater number of lymph nodes removed [hazards ratio (HR), 1.02; P &lt; 0.01], receiving chemotherapy (HR, 1.76; P = 0.02), being obese (HR, 1.51 versus normal weight; P = 0.01), and being married (HR, 1.36; P = 0.05). Factors associated with persistent swelling were having more lymph nodes removed (odds ratio, 1.03; P = 0.01) and being obese (odds ratio, 2.24 versus normal weight; P &lt; 0.01). Women reporting swelling had significantly lower quality of life as measured by the functional assessment of cancer therapy-breast total score and the SF-12 physical and mental health subscales (P &lt; 0.01 for each).Conclusions: Lymphedema occurs among a substantial proportion of young breast cancer survivors. Weight management may be a potential intervention for those at greatest risk of lymphedema to maintain optimal health-related quality of life among survivors. (Cancer Epidemiol Biomarkers Prev 2007;16(4):775–82)
Detecting an Association between Socioeconomic Status and Late Stage Breast Cancer Using Spatial Analysis and Area-Based Measures
Authors: MacKinnon Jill Amlong , Duncan Robert C. , Huang Youjie , Lee David J. , Fleming Lora E. , Voti Lydia , Rudolph Mark , Wilkinson James D. 
Published: April 2007

AbstractObjectives: To assess the relationship between socioeconomic status (SES) and late stage breast cancer using the cluster detection software SaTScan and U.S. census–derived area-based socioeconomic measures.Materials and Methods: Florida's 18,683 women diagnosed with late stage breast cancer (regional or distant stage) between 1998 and 2002 as identified by Florida's population–based, statewide, incidence registry were analyzed by SaTScan to identify areas of higher-than-expected incidence. The relationship between SES and late stage breast cancer was assessed at the neighborhood (block group) level by combining the SaTScan results with area-based SES data.Results: SaTScan identified 767 of Florida's 9,112 block groups that had higher-than-expected incidence of late stage breast cancer. After controlling for patient level insurance status, county level mammography prevalence, and urban/rural residence in the logistic regression model, women living in neighborhoods of severe and near poverty were respectively 3.0 and 1.6 times more likely to live in areas of higher-than-expected incidence of late stage breast cancer when compared with women living in nonpoverty. Additionally, areas in the lowest quartile of mammography usage were almost seven times more likely to have higher-than-expected incidence than areas in the higher quartiles.Conclusions: In addition to confirming the importance of mammography, results from the present study suggest that “where” you live plays an important role in defining the risk of presenting with late stage breast cancer. Additional research is urgently needed to understand this risk and to leverage the strengths and resources present in all communities to lower the late stage breast cancer burden. (Cancer Epidemiol Biomarkers Prev 2007;16(4):756–62)
Gastric Cancer is Related to Early Helicobacter pylori Infection in a High-Prevalence Country
Authors: Ferreccio Catterina , Rollán Antonio , Harris Paul R. , Serrano Carolina , Gederlini Alessandra , Margozzini Paula , Gonzalez Claudia , Aguilera Ximena , Venegas Alejandro , Jara Alejandro 
Published: April 2007

Abstract
Background and Aims: Chile ranks fifth in the world among countries with the highest incidence of gastric cancer. The aim was to quantify the association between Helicobacter pylori infection and gastric cancer mortality at the county of residence.
Methods: A cross-sectional household survey, a probability sample of the Chilean adult population, provided 2,615 participants in whom serum H. pylori IgG antibodies were measured (ELISA). The spatial pattern of 48,367 deaths due to gastric cancer which occurred from 1985 to 2002 was analyzed using a hierarchical Poisson regression model; 333 counties were categorized as low, medium, and high gastric cancer mortality with median gastric cancer death rates of 11.4, 19.1, and 26.0 per 100,000 inhabitants, respectively. The association between H. pylori positivity and gastric cancer mortality in the county of residence was assessed by multivariate Poisson regression for complex samples.
Results: H. pylori prevalence was 73.0% [95% confidence intervals (CI), 70.0-76.0], higher in men [prevalence rate ratio (PRR), 1.1 (95% CI, 1.01-1.20)], peaked at ages 45 to 64, and dropped after age 65. It was higher among residents in counties with high gastric cancer mortality (79.7%; 95% CI, 76.4-82.6) compared to counties with low gastric cancer mortality (62.3%; 95% CI, 53.8-70.2; corresponding PRR, 1.3; 95% CI, 1.1-1.5); under age 24, H. pylori infection was 79.7% (95% CI, 72.2-85.6) versus 39.8% (95% CI, 19.6-64.2) among residents in counties with high and low gastric cancer mortalities, respectively (PRR, 2.0; 95% CI, 1.1-3.7).
Conclusions: The high prevalence of H. pylori at younger ages was associated with high gastric cancer mortality in the base population. (Cancer Epidemiol Biomarkers Prev 2007;16(4):662–7)
IL6, Aspirin, Nonsteroidal Anti-inflammatory Drugs, and Breast Cancer Risk in Women Living in the Southwestern United States
Authors: Slattery Martha L. , Curtin Karen , Baumgartner Richard , Sweeney Carol , Byers Tim , Giuliano Anna R. , Baumgartner Kathy B. , Wolff Roger R. 
Published: April 2007

Abstract
Interleukin-6 is a cytokine thought to be involved in inflammation, insulin, and estrogen-related pathways. We evaluate genetic variation in the IL6 gene with risk of breast cancer. We also evaluate breast cancer associations with aspirin and nonsteroidal anti-inflammatory drugs. A breast cancer case-control study (n = 1,527 non-Hispanic white cases, 1,601 non-Hispanic white controls, 798 Hispanic/Native American cases, and 924 Hispanic/Native American controls) was conducted among women living in the southwestern United States (4-Corner's Breast Cancer Study). Five IL6 single nucleotide polymorphisms (SNP) and IL6 haplotypes based on these SNPs were evaluated. Allele frequencies were significantly different between non-Hispanic white and Hispanic/Native American women. Among postmenopausal women not recently exposed to hormones, the AG/GG genotypes of rs1800797 (−596A&gt;G) and the GC/CC genotypes of rs1800795 (−174G&gt;C) significantly reduced risk of breast cancer among non-Hispanic white women [odds ratio (OR), 0.69; 95% confidence interval (95% CI), 0.48-1.00 and OR, 0.68; 95% CI, 0.47-0.99, respectively] and Hispanic/Native American women (OR, 0.48; 95% CI, 0.28-0.83 and OR, 0.44; 95% CI, 0.26-0.99, respectively). Haplotypes of the five IL6 SNPs further defined these associations. Recent aspirin use significantly decreased risk of breast cancer among postmenopausal Hispanic/Native American women not recently exposed to hormones (OR, 0.56; 95% CI, 0.33-0.96). Among non-Hispanic white, the inverse association with aspirin was not statistically significant. IL6 genotype and haplotype significantly modified the association between aspirin and breast cancer, with the greatest effect modification being among women not recently exposed to hormones [P interaction = 0.06 (for non-Hispanic white) and 0.04 (for Hispanic/Native American) and SNP rs1800796 or −572G&gt;C]. These data suggest that IL6 is associated with breast cancer risk and modifies the association between estrogen and aspirin and breast cancer risk. (Cancer Epidemiol Biomarkers Prev 2007;16(4):747–55)
Can We Trust National Smoking Prevalence Figures? Discrepancies Between Biochemically Assessed and Self-Reported Smoking Rates in Three Countries
Authors: West Robert , Zatonski Witold , Przewozniak Krzysztof , Jarvis Martin J. 
Published: April 2007

AbstractBackground: National smoking prevalence estimates are the primary basis for assessing progress in tobacco control across the world. They are based on surveys of self-reported cigarette smoking. It has been assumed that this is sufficiently accurate for policy purposes, but this assumption has not been adequately tested.Methods: We report data from the 2003 Health Survey for England, the U.S. National Health and Nutrition Examination Survey for 2001-2002, and the 2004 national smoking behaviors survey in Poland as examples of countries at different stages in the “tobacco epidemic.” Self-reported cigarette and total tobacco smoking prevalence were assessed by means of the standard questions used in each country. In subsamples, specimens were collected for analysis of cotinine (saliva, N = 1,613 in England; serum, N = 4,687 in the United States; and saliva, N = 388 in Poland) providing an objective means of determining active smoking. A cut point of 15 ng/mL was used to discriminate active smoking from passive smoke exposure.Results: Self-reported cigarette smoking prevalence using the standard methods underestimated true tobacco smoking prevalence by an estimated 2.8% in England, 0.6% in the United States, and 4.4% in Poland. Cotinine concentrations in those misclassified as nonsmokers were indicative of high levels of smoke intake.Interpretation: Underestimation of smoking prevalence was minimal in the United States but significant in England and Poland. A review of methodologies for assessing tobacco smoking prevalence worldwide is urgently needed. (Cancer Epidemiol Biomarkers Prev 2007;16(4):820–2)
Physical Activity and Endometrial Cancer Risk, a Systematic Review of Current Evidence
Authors: Voskuil Dorien W. , Monninkhof Evelyn M. , Elias Sjoerd G. , Vlems Femke A. , van Leeuwen Flora E. ,   Task Force Physical Activity and Cancer
Published: April 2007

Abstract
Objective: To assess the epidemiologic evidence for the association between physical activity and endometrial cancer risk, taking into account the methodologic quality of each study.
Design: Systematic review, best evidence synthesis.
Data Sources: Studies were identified through a systematic review of literature available on PubMed through December 2006.
Review Methods: We included cohort and case-control studies that assessed total and/or leisure time and/or occupational activities in relation to the incidence of endometrial cancer. The methodologic quality of the studies was assessed with a comprehensive scoring system.
Results: The included cohort (n = 7) and case-control (n = 13) studies consistently show that physical activity is associated with a decreased risk of endometrial cancer. The best evidence synthesis showed that the majority (80%) of 10 high-quality studies found risk reductions of &gt;20%. Pooling of seven high-quality cohort studies that measured total, leisure time, or occupational activity showed a significantly decreased risk of endometrial cancer (summary estimate: OR, 0.77; 95% CI, 0.70-0.85) for the most active women. Case control studies with relatively unfavorable quality scores reported divergent risk estimates, between 2-fold decreased and 2-fold increased risk. Effect modification by body mass index or menopausal status was not consistently observed. Evidence for an effect of physical activity during childhood or adolescence was limited.
Conclusions: Physical activity seems to be associated with a reduction in the risk of endometrial cancer, which is independent of body weight. Further studies, preferably prospective cohort studies, are needed to determine the magnitude of the risk reduction and to assess which aspects of physical activity contribute most strongly to the reduced risk and in which period of life physical activity is most effective. (Cancer Epidemiol Biomarkers Prev 2007;16(4):639–48)