Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a putative chromatin remodeling protein. Neurologic manifestations identified to date relate to enhanced atherosclerosis and cerebrovascular disease. Based on a clinical survey, we determined that half of Schimke immuno-osseous dysplasia patients have a small head circumference, and 15% have social, language, motor, or cognitive abnormalities. Postmortem examination of 2 Schimke immuno-osseous dysplasia patients showed low brain weights and subtle brain histologic abnormalities suggestive of perturbed neuron-glial migration such as heterotopia, irregular cortical thickness, incomplete gyral formation, and poor definition of cortical layers. We found that SMARCAL1 is highly expressed in the developing and adult mouse and human brain, including neural precursors and neuronal lineage cells. These observations suggest that SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation

Effectiveness of activity trackers with and without incentives to increase physical activity (TRIPPA): a randomised controlled trial

Background Despite the increasing popularity of activity trackers, little evidence exists that they can improve health outcomes. We aimed to investigate whether use of activity trackers, alone or in combination with cash incentives or charitable donations, lead to increases in physical activity and improvements in health outcomes. Methods In this randomised controlled trial, employees from 13 organisations in Singapore were randomly assigned (1:1:1:1) with a computer generated assignment schedule to control (no tracker or incentives), Fitbit Zip activity tracker, tracker plus charity incentives, or tracker plus cash incentives. Participants had to be English speaking, full-time employees, aged 21–65 years, able to walk at least ten steps continuously, and non-pregnant. Incentives were tied to weekly steps, and the primary outcome, moderate-to-vigorous physical activity (MVPA) bout min per week, was measured via a sealed accelerometer and assessed on an intention-to-treat basis at 6 months (end of intervention) and 12 months (after a 6 month post-intervention follow-up period). Other outcome measures included steps, participants meeting 70 000 steps per week target, and health-related outcomes including weight, blood pressure, and quality-of-life measures. This trial is registered at ClinicalTrials.gov, number NCT01855776. Findings Between June 13, 2013, and Aug 15, 2014, 800 participants were recruited and randomly assigned to the control (n=201), Fitbit (n=203), charity (n=199), and cash (n=197) groups. At 6 months, compared with control, the cash group logged an additional 29 MVPA bout min per week (95% CI 10–47; p=0·0024) and the charity group an additional 21 MVPA bout min per week (2–39; p=0·0310); the difference between Fitbit only and control was not significant (16 MVPA bout min per week [–2 to 35; p=0·0854]). Increases in MVPA bout min per week in the cash and charity groups were not significantly greater than that of the Fitbit group. At 12 months, the Fitbit group logged an additional 37 MVPA bout min per week (19–56; p=0·0001) and the charity group an additional 32 MVPA bout min per week (12–51; p=0·0013) compared with control; the difference between cash and control was not significant (15 MVPA bout min per week [–5 to 34; p=0·1363]). A decrease in physical activity of −23 MVPA bout min per week (95% CI −42 to −4; p=0·0184) was seen when comparing the cash group with the Fitbit group. There were no improvements in any health outcomes (weight, blood pressure, etc) at either assessment. Interpretation The cash incentive was most effective at increasing MVPA bout min per week at 6 months, but this effect was not sustained 6 months after the incentives were discontinued. At 12 months, the activity tracker with or without charity incentives were effective at stemming the reduction in MVPA bout min per week seen in the control group, but we identified no evidence of improvements in health outcomes, either with or without incentives, calling into question the value of these devices for health promotion. Although other incentive strategies might generate greater increases in step activity and improvements in health outcomes, incentives would probably need to be in place long term to avoid any potential decrease in physical activity resulting from discontinuation. Funding Ministry of Health, Singapore

Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases

Fermi-Dirac Distributions for Quark Partons

We propose to use Fermi-Dirac distributions for quark and antiquark partons. It allows a fair description of the $x$-dependence of the very recent NMC data on the proton and neutron structure functions $F_2^p(x)$ and $F_2^n(x)$ at $Q^2=4$ GeV$^2$, as well as the CCFR antiquark distribution $x\overline q(x)$. We show that one can also use a corresponding Bose-Einstein expression to describe consistently the gluon distribution. The Pauli exclusion principle, which has been identified to explain the flavor asymmetry of the light-quark sea of the proton, is advocated to guide us for making a simple construction of the polarized parton distributions. We predict the spin dependent structure functions $g_1^p(x)$ and $g_1^n(x)$ in good agreement with EMC and SLAC data. The quark distributions involve some parameters whose values support well the hypothesis that the violation of the quark parton model sum rules is a consequence of the Pauli principle.Comment: 12 pages,CPT-93/P.2961,latex,6 fig available on cpt.univ-mrs.fr directory pub/preprints/93/fundamental-interactions/93-P.296

Selected papers on cooling tower water treatment

At head of title: State of Illinois Department of Registration and Education

Fermi-Dirac statistics plus liquid description of quark partons

A previous approach with Fermi-Dirac distributions for fermion partons is here improved to comply with the expected low $x$ behaviour of structure functions. We are so able to get a fair description of the unpolarized and polarized structure functions of the nucleons as well as of neutrino data. We cannot reach definite conclusions, but confirm our suspicion of a relationship between the defects in Gottfried and spin sum rules.Comment: 15 pages, plain LaTex, 10 compressed tarred uuencoded figures in a separate fil

Methane sources in gas hydrate-bearing cold-seeps : evidence from radiocarbon and stable isotopes

Author Posting. © The Author(s), 2009. This is the author's version of the work. It is posted here by permission of Elsevier B.V. for personal use, not for redistribution. The definitive version was published in Marine Chemistry 115 (2009): 102-109, doi:10.1016/j.marchem.2009.07.001.Fossil methane from the large and dynamic marine gas hydrate reservoir has the potential to influence oceanic and atmospheric carbon pools. However, natural radiocarbon (14C) measurements of gas hydrate methane have been extremely limited, and their use as a source and process indicator has not yet been systematically established. In this study, gas hydrate-bound and dissolved methane recovered from six geologically and geographically distinct high-gas-flux cold seeps was found to be 98 to 100% fossil based on its 14C content. Given this prevalence of fossil methane and the small contribution of gas hydrate (≤1%) to the present-day atmospheric methane flux, non-fossil contributions of gas hydrate methane to the atmosphere are not likely to be quantitatively significant. This conclusion is consistent with contemporary atmospheric methane budget calculations. In combination with δ13C- and δD-methane measurements, we also determine the extent to which the low, but detectable, amounts of 14C (~ 1-2 percent modern carbon, pMC) in methane from two cold seeps might reflect in situ production from near-seafloor sediment organic carbon (SOC). A 14C mass balance approach using fossil methane and 14C-enriched SOC suggests that as much as 8 to 29% of hydrate-associated methane carbon may originate from SOC contained within the upper 6 meters of sediment. These findings validate the assumption of a predominantly fossil carbon source for marine gas hydrate, but also indicate that structural gas hydrate from at least certain cold seeps contains a component of methane produced during decomposition of non-fossil organic matter in near-surface sediment.This work was supported by the Office of Naval Research and Naval Research Laboratory (NRL). Partial support was also provided by the USGS Mendenhall Postdoctoral Research Fellowship Program to JWP, and NSF Chemical Oceanography (OCE-0327423) and Integrated Carbon Cycle Research (EAR- 0403949) program support to JEB

Forward pi^0 Production and Associated Transverse Energy Flow in Deep-Inelastic Scattering at HERA

Deep-inelastic positron-proton interactions at low values of Bjorken-x down to x \approx 4.10^-5 which give rise to high transverse momentum pi^0 mesons are studied with the H1 experiment at HERA. The inclusive cross section for pi^0 mesons produced at small angles with respect to the proton remnant (the forward region) is presented as a function of the transverse momentum and energy of the pi^0 and of the four-momentum transfer Q^2 and Bjorken-x. Measurements are also presented of the transverse energy flow in events containing a forward pi^0 meson. Hadronic final state calculations based on QCD models implementing different parton evolution schemes are confronted with the data.Comment: 27 pages, 8 figures and 3 table

Search for Doubly-Charged Higgs Boson Production at HERA

A search for the single production of doubly-charged Higgs bosons H^{\pm \pm} in ep collisions is presented. The signal is searched for via the Higgs decays into a high mass pair of same charge leptons, one of them being an electron. The analysis uses up to 118 pb^{-1} of ep data collected by the H1 experiment at HERA. No evidence for doubly-charged Higgs production is observed and mass dependent upper limits are derived on the Yukawa couplings h_{el} of the Higgs boson to an electron-lepton pair. Assuming that the doubly-charged Higgs only decays into an electron and a muon via a coupling of electromagnetic strength h_{e \mu} = \sqrt{4 \pi \alpha_{em}} = 0.3, a lower limit of 141 GeV on the H^{\pm\pm} mass is obtained at the 95% confidence level. For a doubly-charged Higgs decaying only into an electron and a tau and a coupling h_{e\tau} = 0.3, masses below 112 GeV are ruled out.Comment: 15 pages, 3 figures, 1 tabl

Low Q^2 Jet Production at HERA and Virtual Photon Structure

The transition between photoproduction and deep-inelastic scattering is investigated in jet production at the HERA ep collider, using data collected by the H1 experiment. Measurements of the differential inclusive jet cross-sections dsigep/dEt* and dsigmep/deta*, where Et* and eta* are the transverse energy and the pseudorapidity of the jets in the virtual photon-proton centre of mass frame, are presented for 0 < Q2 < 49 GeV2 and 0.3 < y < 0.6. The interpretation of the results in terms of the structure of the virtual photon is discussed. The data are best described by QCD calculations which include a partonic structure of the virtual photon that evolves with Q2.Comment: 20 pages, 5 Figure