Azimuthal anisotropy of charged particles at high transverse momenta in Pb-Pb collisions at sqrt[s(NN)] = 2.76 TeV.

The azimuthal anisotropy of charged particles in Pb-Pb collisions at sqrt[s(NN)]=2.76  TeV is measured with the CMS detector at the LHC over an extended transverse momentum (p(T)) range up to approximately 60  GeV/c. The data cover both the low-p(T) region associated with hydrodynamic flow phenomena and the high-p(T) region where the anisotropies may reflect the path-length dependence of parton energy loss in the created medium.

Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma.

Background: Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. This holds true for melanoma, whose incidence is increasing more rapidly than any other cancer and once disseminated has few therapeutic options. Here we performed whole exome sequencing of two sets of matched normal and metastatic tumor DNAs.

Search for new physics with same-sign isolated dilepton events with jets and missing transverse energy.

A search for new physics is performed in events with two same-sign isolated leptons, hadronic jets, and missing transverse energy in the final state. The analysis is based on a data sample corresponding to an integrated luminosity of 4.98 fb(-1) produced in pp collisions at a center-of-mass energy of 7 TeV collected by the CMS experiment at the LHC.

Search for a light pseudoscalar Higgs boson in the dimuon decay channel in pp collisions at √s = 7 TeV.

The dimuon invariant mass spectrum is searched in the range between 5.5 and 14 GeV for a light pseudoscalar Higgs boson a, predicted in a number of new physics models, including the next-to-minimal supersymmetric standard model. The data sample used in the search corresponds to an integrated luminosity of 1.

Measurement of the electron charge asymmetry in inclusive W production in pp collisions at sqrt[s]=7 TeV.

A measurement of the electron charge asymmetry in inclusive pp→W+X→eν+X production at sqrt[s]=7  TeV is presented based on data recorded by the CMS detector at the LHC and corresponding to an integrated luminosity of 840  pb(-1). The electron charge asymmetry reflects the unequal production of W(+) and W(-) bosons in pp collisions. The electron charge asymmetry is measured in bins of the absolute value of electron pseudorapidity in the range of |η|<2.

Search for dark matter and large extra dimensions in pp collisions yielding a photon and missing transverse energy.

Results are presented from a search for new physics in the final state containing a photon (γ) and missing transverse energy (E[combininb /](T)). The data correspond to an integrated luminosity of 5.0 fb(-1) collected in pp collisions at √[s]=7 TeV by the CMS experiment.

Observation of a new Ξb baryon.

The observation of a new b baryon via its strong decay into Ξ(b)(-) π(+) (plus charge conjugates) is reported. The measurement uses a data sample of pp collisions at sqrt[s] = 7 TeV collected by the CMS experiment at the LHC, corresponding to an integrated luminosity of 5.3 fb(-1).

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Background: Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assembly factor 1, were reported in SDH-defective infantile leukoencephalopathy. Our goal was to identify SDHAF1 mutations in further patients and to delineate the clinical phenotype.

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.

Much emphasis has been placed on the identification, functional characterization, and therapeutic potential of somatic variants in tumor genomes. However, the majority of somatic variants lie outside coding regions and their role in cancer progression remains to be determined. In order to establish a system to test the functional importance of non-coding somatic variants in cancer, we created a low-passage cell culture of a metastatic melanoma tumor sample.

Assessment of myelination in hypomyelinating disorders by quantitative MRI.

Purpose: To apply myelin-sensitive quantitative magnetic resonance imaging (MRI) techniques in defined hypomyelinating conditions and to identify spatial patterns of myelination as criteria for characterization of undefined disorders.

Materials And Methods: Seven patients were included, based on the diagnosis of mitochondrial cytopathy, Pelizaeus-Merzbacher disease, GJA12/GJC2-related Pelizaeus-Merzbacher-like disease, hypomyelination with atrophy of the basal ganglia and cerebellum, and leukoencephalopathy with ataxia, delayed dentition, and hypomyelination. The control group comprised 23 children and adolescents (age range 2.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Background: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterised by early-onset episodes of hemiplegia, dystonia, various paroxysmal symptoms, and developmental impairment. Almost all cases of AHC are sporadic but AHC concordance in monozygotic twins and dominant transmission in a family with a milder phenotype have been reported. Thus, we aimed to identify de-novo mutations associated with this disease.

Structure and activity of the only human RNase T2.

Mutations in the gene of human RNase T2 are associated with white matter disease of the human brain. Although brain abnormalities (bilateral temporal lobe cysts and multifocal white matter lesions) and clinical symptoms (psychomotor impairments, spasticity and epilepsy) are well characterized, the pathomechanism of RNase T2 deficiency remains unclear. RNase T2 is the only member of the Rh/T2/S family of acidic hydrolases in humans.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children with low 5-methyltetrahydrofolate concentrations in the cerebrospinal fluid and neurological symptoms that developed after infancy.

First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.

Among the human PEX genes associated with peroxisome biogenesis disorders, only the PEX11 family genes had not previously been associated with human disease. A new study identifies the first patient with a mutation in PEX11β. The patient presents with symptoms atypical for peroxisome biogenesis disorders.

Search for the standard model Higgs boson in the decay channel H→ZZ→4ℓ in pp collisions at √s=7 TeV.

A search for a Higgs boson in the four-lepton decay channel H→ZZ, with each Z boson decaying to an electron or muon pair, is reported. The search covers Higgs boson mass hypotheses in the range of 110 View Article and Find Full Text PDF

Search for signatures of extra dimensions in the diphoton mass spectrum at the large hadron collider.

A search for signatures of extra spatial dimensions in the diphoton invariant-mass spectrum has been performed with the CMS detector at the LHC. No excess of events above the standard model expectation is observed using a data sample collected in proton-proton collisions at √s=7 TeV corresponding to an integrated luminosity of 2.2 fb(-1).

[Pain management in international curricula for undergraduate education in palliative medicine. A palliative education assessment tool (PEAT) analysis].

Background: In the context of undergraduate medical education, there is the question of overlap between palliative medicine and pain management. International curricula for palliative medicine were analyzed with regard to the content concerning pain management.

Methods: Available international curricula were sought through general search engines (Google, Medline/Pubmed) in the German and English languages.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Copper (Cu) is a trace metal that readily gains and donates electrons, a property that renders it desirable as an enzyme cofactor but dangerous as a source of free radicals. To regulate cellular Cu metabolism, an elaborate system of chaperones and transporters has evolved, although no human Cu chaperone mutations have been described to date. We describe a child from a consanguineous family who inherited homozygous mutations in the SLC33A1, encoding an acetyl CoA transporter, and in CCS, encoding the Cu chaperone for superoxide dismutase.

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset, severity, and different neurological symptoms. The clinical course spans from death in infancy, rapid functional decline, slow decline on long-term followup, to apparent stable course.

MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions.

Here we demonstrate that miRNA regulation in marmoset (Callithrix jacchus) and C57/BL6 mouse EAE lesions largely resembles miRNA regulation in active human MS lesions. Detailed quantitative PCR analyses of the most up- and downregulated miRNAs of active human MS lesions in dissected lesions from marmoset EAE brains and inflamed spinal cords of EAE mice revealed that the conserved and highly regulated miRNAs, miRNA-155, miRNA-142-3p, miRNA-146a, miRNA-146b and miRNA-21, turned out to be similarly upregulated in marmoset and mouse EAE lesions.

Surficial redistribution of fallout ¹³¹iodine in a small temperate catchment.

Isotopes of iodine play significant environmental roles, including a limiting micronutrient ((127)I), an acute radiotoxin ((131)I), and a geochemical tracer ((129)I). But the cycling of iodine through terrestrial ecosystems is poorly understood, due to its complex environmental chemistry and low natural abundance. To better understand iodine transport and fate in a terrestrial ecosystem, we traced fallout (131)iodine throughout a small temperate catchment following contamination by the 11 March 2011 failure of the Fukushima Daiichi nuclear power facility.

Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritis.

Objective: To study the humoral immune response directed at myelin oligodendrocyte glycoprotein (MOG)in pediatric patients with isolated and recurrent optic neuritis(ON).

Design: Observational prospective case series.

Setting: Six pediatric hospitals in Germany and Austria.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID.