37 research outputs found
Excluding Electroweak Baryogenesis in the MSSM
In the context of the MSSM the Light Stop Scenario (LSS) is the only region
of parameter space that allows for successful Electroweak Baryogenesis (EWBG).
This possibility is very phenomenologically attractive, since it allows for the
direct production of light stops and could be tested at the LHC. The ATLAS and
CMS experiments have recently supplied tantalizing hints for a Higgs boson with
a mass of ~ 125 GeV. This Higgs mass severely restricts the parameter space of
the LSS, and we discuss the specific predictions made for EWBG in the MSSM.
Combining data from all the available ATLAS and CMS Higgs searches reveals a
tension with the predictions of EWBG even at this early stage. This allows us
to exclude EWBG in the MSSM at greater than (90) 95% confidence level in the
(non-)decoupling limit, by examining correlations between different Higgs decay
channels. We also examine the exclusion without the assumption of a ~ 125 GeV
Higgs. The Higgs searches are still highly constraining, excluding the entire
EWBG parameter space at greater than 90% CL except for a small window of m_h ~
117 - 119 GeV.Comment: 24 Pages, 4 Figures (v3: fixed typos, minor corrections, added
references
Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis
<p>Abstract</p> <p>Background</p> <p>Genome-wide association studies and subsequent replication studies have shown that single nucleotide polymorphisms (SNPs) in the chromosomal region 8q24 are associated with colorectal cancer susceptibility.</p> <p>Methods</p> <p>We examined 11 SNP markers in the 8q24 region between 128.47 and 128.54 Mb, using a total of 1,987 colon cases and 2,339 controls who self-reported as white from two independent, well-characterized study populations. Analysis was performed separately within each study, and combined using random effects meta-analysis. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) and to test for effect modification by known colon cancer risk factors. We also performed a meta-analysis combining our results with previous studies.</p> <p>Results</p> <p>We observed evidence of association for four SNPs in low to high linkage disequilibrium (r<sup>2 </sup>ranging from 0.18 to 0.93) localized in a 16.2 kb region defined by rs10505477 and rs1056368. The combined results for our two studies of colon cancer showed an OR of 1.10 (95% CI: 1.01-1.20, P<sub>trend </sub>= 0.023), and a meta-analysis of our results with previously reported studies of colon and colorectal cancer strongly support the association for this SNP (combined OR for rs6983267 = 1.21, 95% CI: 1.18-1.24, p = 5.5 Ă— 10<sup>-44</sup>). We did not observe any notable evidence of effect modification by known colon cancer risk factors, and risk did not differ significantly by tumor site or stage.</p> <p>Conclusions</p> <p>Our study confirms the association between polymorphisms on chromosome 8q24 and colon cancer risk and suggests that the susceptibility locus in region 8q24 is not strongly modified by various lifestyle, environmental, and demographic risk factors for colon cancer.</p
Recommended from our members
Variable clinical features in Fabry disease in patients with novel mutations
Recommended from our members
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A due to mutations in the GLA gene. This leads to an accumulation of globotriaosylceramide (GL-3) in many tissues, which results in progressive damage to the kidneys, heart, and nervous system. We present the molecular and clinical characteristics and long-term outcomes of FD patients from a multidisciplinary clinic at the University of California, Irvine treated with agalsidase beta enzyme replacement therapy (ERT) for 2-20 years. This cohort comprised 24 adults (11 males, 13 females) and two male children (median age 45; range 10-68 years). Of the 26 patients in this cohort, 20 were on ERT (12 males, 8 females). We describe one novel variant not previously reported in the literature in a patient with features of 'classic' FD. The vast majority of patients in this cohort presented with symptoms of 'classic' FD including peripheral neuropathic pain, some form of cardiac involvement, angiokeratomas, corneal verticillata, hypohidrosis, tinnitus, and gastrointestinal symptoms, primarily abdominal pain. The majority of males had clinically evident renal involvement. An annual eGFR reduction of -1.88 mL/min/1.73 m2/yr during the course of ERT was seen in this cohort. The most common renal presentation was proteinuria, and one individual required a renal transplant. Other common findings were pulmonary involvement, lymphedema, hearing loss, and significantly, three patients had strokes. Notably, there was a high prevalence of endocrine dysfunction and low bone mineral density, including several with osteoporosis. While enzyme replacement therapy (ERT) cleared plasma GL-3 in this cohort, there was limited improvement in renal function or health-related quality of life based on the patient-reported SF-36 Health Survey. Physical functioning significantly declined over the course of ERT treatment, which may be, in part, due to the late initiation of ERT in several patients. Further delineation of the phenotypic and genotypic spectrum in patients with FD and the long-term outcome of ERT will help improve management and treatment options for this disease