Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Biotinidase deficiency (BD) is an autosomal recessive disorder resulting in the inability to recycle the vitamin biotin. Individuals with biotinidase deficiency can develop neurological and cutaneous symptoms if they are not treated with biotin. To date, more than 165 mutations in the biotinidase gene (BTD) have been reported.

Methotrexate and lung disease in rheumatoid arthritis: a meta-analysis of randomized controlled trials.

Objective: Methotrexate has shown efficacy for the treatment of several diseases, especially rheumatoid arthritis (RA). Methotrexate has also been implicated as a causative agent in interstitial lung disease. Patients with RA may develop pulmonary manifestations of their disease and are at increased risk of respiratory infection.

Targets and the emergency medical system--intended and unintended consequences.

Objective: There is interest in health service reform and efficiencies; health service providers collect statistics, set targets and compare institutions. In January 2009, in Ireland, a national waiting time target of 6 h was set from registration in the emergency department (ED) to admission or discharge. The aim of this study was to assess the consequences of the introduction of this target on our institution and the Acute Medical Admission Unit.

The impact of hepatitis screening on diagnosis and treatment in rheumatoid arthritis.

Identification of patients with exposure to viral hepatitis is an important part of the care of patients with inflammatory arthritis. This study was conducted to assess the extent of hepatitis B and C screening, and the prevalence of viral hepatitis in a cohort of patients with established rheumatoid arthritis (RA). The medical records of 100 consecutive RA patients were retrospectively analysed for screening of hepatitis B surface antigen, surface antibody and core antibody and hepatitis C antibody.

High-sensitivity troponin as an outcome predictor in acute medical admissions.

Background: Troponin estimation is increasingly performed on emergency medical admissions. We report on a high-sensitivity troponin (hscTn) assay, introduced in January 2011, and its relevance to in-hospital mortality in such patients.

Aim: To evaluate the impact of hscTn results on in-hospital mortality and the value of incorporating troponin into a predictive score of in-hospital mortality.

Downregulation of RUNX1/CBFβ by MLL fusion proteins enhances hematopoietic stem cell self-renewal.

RUNX1/CBFβ (core binding factor [CBF]) is a heterodimeric transcription factor complex that is frequently involved in chromosomal translocations, point mutations, or deletions in acute leukemia. The mixed lineage leukemia (MLL) gene is also frequently involved in chromosomal translocations or partial tandem duplication in acute leukemia. The MLL protein interacts with RUNX1 and prevents RUNX1 from ubiquitin-mediated degradation.

Consultant experience as a determinant of outcomes in emergency medical admissions.

Background: There are little data on the experiential learning of certified consultant specialists and outcomes in acute medicine. We have examined the 30-day in-hospital mortality and hospital length of stay (LOS) in relation to practice duration, using a database of emergency admissions.

Methods: All emergency admissions (60,864 episodes in 35,168 patients) over eleven years (January 2002 to December 2012) were evaluated.

Hyponatraemia in Emergency Medical Admissions-Outcomes and Costs.

Healthcare systems in the developed world are struggling with the demand of emergency room presentations; the study of the factors driving such demand is of fundamental importance. From a database of all emergency medical admissions (66,933 episodes in 36,271 patients) to St James' Hospital, Dublin, Ireland, over 12 years (2002 to 2013) we have explored the impact of hyponatraemia on outcomes (30 days in-hospital mortality, length of stay (LOS) and costs). Identified variables, including Acute Illness Severity, Charlson Co-Morbidity and Chronic Disabling Disease that proved predictive univariately were entered into a multivariable logistic regression model to predict the bivariate of 30 days in-hospital survival.

Measurement of top quark-antiquark pair production in association with a W or Z boson in pp collisions at [Formula: see text][Formula: see text].

A measurement of the cross section for the production of top quark-antiquark pairs ([Formula: see text]) in association with a vector boson V (W or Z) in proton-proton collisions at [Formula: see text][Formula: see text] is presented. The results are based on a dataset corresponding to an integrated luminosity of 19.5 fb[Formula: see text] recorded with the CMS detector at the LHC.

Searches for electroweak production of charginos, neutralinos, and sleptons decaying to leptons and W, Z, and Higgs bosons in pp collisions at 8 TeV.

Searches for the direct electroweak production of supersymmetric charginos, neutralinos, and sleptons in a variety of signatures with leptons and [Formula: see text], [Formula: see text], and Higgs bosons are presented. Results are based on a sample of proton-proton collision data collected at center-of-mass energy [Formula: see text] with the CMS detector in 2012, corresponding to an integrated luminosity of 19.5 [Formula: see text].

Search for invisible decays of Higgs bosons in the vector boson fusion and associated ZH production modes.

A search for invisible decays of Higgs bosons is performed using the vector boson fusion and associated ZH production modes. In the ZH mode, the Z boson is required to decay to a pair of charged leptons or a [Formula: see text] quark pair. The searches use the 8 [Formula: see text] pp collision dataset collected by the CMS detector at the LHC, corresponding to an integrated luminosity of up to 19.

Measurement of WZ and ZZ production in pp collisions at [Formula: see text] in final states with b-tagged jets.

Measurements are reported of the WZ and ZZ production cross sections in proton-proton collisions at [Formula: see text][Formula: see text] in final states where one Z boson decays to b-tagged jets. The other gauge boson, either W or Z, is detected through its leptonic decay (either [Formula: see text], [Formula: see text] or [Formula: see text], [Formula: see text], or [Formula: see text]). The results are based on data corresponding to an integrated luminosity of 18.

Probing color coherence effects in pp collisions at [Formula: see text].

A study of color coherence effects in pp collisions at a center-of-mass energy of 7[Formula: see text] is presented. The data used in the analysis were collected in 2010 with the CMS detector at the LHC and correspond to an integrated luminosity of 36 pb[Formula: see text]. Events are selected that contain at least three jets and where the two jets with the largest transverse momentum exhibit a back-to-back topology.

Study of the production of charged pions, kaons, and protons in pPb collisions at [Formula: see text]5.02[Formula: see text].

Spectra of identified charged hadrons are measured in pPb collisions with the CMS detector at the LHC at [Formula: see text]. Charged pions, kaons, and protons in the transverse-momentum range [Formula: see text]-1.7[Formula: see text] and laboratory rapidity [Formula: see text] are identified via their energy loss in the silicon tracker.

Search for top squarks in R-parity-violating supersymmetry using three or more leptons and b-tagged jets.

A search for anomalous production of events with three or more isolated leptons and bottom-quark jets produced in pp collisions at √s=8 TeV is presented. The analysis is based on a data sample corresponding to an integrated luminosity of 19.5 fb(-1) collected by the CMS experiment at the LHC in 2012.

Long-term outcome of an AMAU--a decade's experience.

Background: There is interest in emergency medical admissions, the outcomes of major reconfigurations and the development of systems and processes for Acute Medicine. We report on the long-term outcomes of an Acute Medical Admissions Unit, using a database of emergency admissions to St James' Hospital, Dublin, from 2002 to 2012.

Methods: All emergency admissions (67,971 episodes in 37,828 patients) were tracked and in-hospital mortality, length of stay and emergency 'wait' numbers and times summarized.

Inclusive search for supersymmetry using razor variables in pp collisions at √s=7 TeV.

An inclusive search is presented for new heavy particle pairs produced in √s=7 TeV proton-proton collisions at the LHC using 4.7±0.1 fb(-1) of integrated luminosity.