Camperdown Hemoglobin Associated With β° Thalassemia In A Brazilian Child

We report the coexistence of Hb Camperdown [β 104 (G6) Arg → Ser] and β°-thalassemia [β39 (Gln → stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's β-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of β°-thalassemia with Hb Camperdown. Copyright by the Brazilian Society of Genetics.283394396Araújo, A.S., Silva, W.A., Leao, S.A., Bandeira, F.C., Petrou, M., Modell, B., Zago, M.A., A different molecular pattern of β-thalassemia mutations in Northeast of Brazil (2003) Hemoglobin, 27, pp. 211-217Amone, A., X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhemoglobin (1972) Nature, 237, pp. 146-149Bertuzzo, C.S., Sonati, M.F., Costa, F.F., Hematological phenotype and the type of β thalassemia mutation in Brazil (1997) Braz J Genet, 20, pp. 319-321Bianco, I., Graziani, B., Carboni, C., Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial hematological and biosynthetic studies (1977) Hum Hered, 27, pp. 257-272Blouquit, Y., Lacombe, C., Arous, N., Le Qurrec, A., Branconnier, F., Bonhomme, J., Soummer, A.M., Galacteros, F., Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6) ARG → SER found in Malta, Sicily and Tunisia (1984) Hemoglobin, 8, pp. 613-619Chang, J.C., Kan, Y.W., β°-thalassemia, a nonsense mutation in man (1979) Proc Natl Acad Sci USA, 76, pp. 2886-2889Clarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clin Chem, 46, pp. 1284-1290Fonseca, S.F., Kerbauy, J., Escrivçao, C., Figueiredo, M.S., Cançado, R., Arruda, V.R., Saad, S.T.O., Costa, F.F., Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil (1998) Hemoglobin, 22, pp. 197-207Grignoli, C.R.E., Carvalho, M.H., Kimura, E.M., Sonati, M.F., Arruda, V.R., Saad, S.T.O., Costa, F.F., β°-thalassemia resulting from a novel mutation: β66/u → stop codon (2000) Eur J Haematol, 64, pp. 137-138Kimura, E.M., Grignoli, C.R.E., Pinheiro, V.R.P., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for β°-thallassemia and αααanti3.7/αα genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Kister, J., Barbadjian, J., Blouquit, Y., Bohn, B., Galacteros, F., Poyart, C., Inhibition of oxygen-linked anion binding in Hb Camperdown [α2β2 104 (G6) ARG → SER] (1989) Hemoglobin, 13, pp. 567-578Miranda, S.R.P., Kimura, E.M., Teixeira, R.C., Bertuzzo, C.S., Ramalho, A.A., Saad, S.T.O., Costa, F.F., Hb Camperdown [α2β2 104 (G6) ARG → SER] identified by DNA analysis in a Brazilian family (1996) Hemoglobin, 20, pp. 147-153Old, J.M., Screening arid genetic diagnosis of haemoglobin disorders (2003) Blood Rev, 17, pp. 43-53Olivieri, N.F., The β-thalassemias (1999) N Engl J Med, 341, pp. 99-109Thein, S.L., Genetic insights into the clinical diversity of beta thalassaemia (2004) Br J Haematol, 124, pp. 264-274Weatherall, D.J., Clegg, J.B., Inherited haemoglobin disorders: An increasing global health problem (2001) Bull World Health Organ, 79, pp. 704-712Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., Kronenberg, H., Haemoglobin Camperdown β 104(G6) Arginine leads to serine (1975) Biochim Biophys Acta, 393, pp. 195-200Zago, M.A., Costa, F.F., Hereditary hemoglobin disorders in Brazil (1985) Trans R Soc Trop Med Hyg, 79, pp. 385-38

The energy spectrum of cosmic rays beyond the turn-down around 10^17 eV as measured with the surface detector of the Pierre Auger Observatory

We present a measurement of the cosmic-ray spectrum above 100 PeV using the part of the surface detector of the Pierre Auger Observatory that has a spacing of 750 m. An inflection of the spectrum is observed, confirming the presence of the so-called second-knee feature. The spectrum is then combined with that of the 1500 m array to produce a single measurement of the flux, linking this spectral feature with the three additional breaks at the highest energies. The combined spectrum, with an energy scale set calorimetrically via fluorescence telescopes and using a single detector type, results in the most statistically and systematically precise measurement of spectral breaks yet obtained. These measurements are critical for furthering our understanding of the highest energy cosmic rays

Search for black holes and other new phenomena in high-multiplicity final states in proton-proton collisions at root s=13 TeV

Peer reviewe

Measurement of the cross section for isolated-photon plus jet production in pp collisions at √s=13 TeV using the ATLAS detector

The dynamics of isolated-photon production in association with a jet in proton–proton collisions at a centre-of-mass energy of 13 TeV are studied with the ATLAS detector at the LHC using a dataset with an integrated luminosity of 3.2 fb−1. Photons are required to have transverse energies above 125 GeV. Jets are identified using the anti- algorithm with radius parameter and required to have transverse momenta above 100 GeV. Measurements of isolated-photon plus jet cross sections are presented as functions of the leading-photon transverse energy, the leading-jet transverse momentum, the azimuthal angular separation between the photon and the jet, the photon–jet invariant mass and the scattering angle in the photon–jet centre-of-mass system. Tree-level plus parton-shower predictions from Sherpa and Pythia as well as next-to-leading-order QCD predictions from Jetphox and Sherpa are compared to the measurements

A search for resonances decaying into a Higgs boson and a new particle X in the XH → qqbb final state with the ATLAS detector

A search for heavy resonances decaying into a Higgs boson (H) and a new particle (X) is reported, utilizing 36.1 fb−1 of proton–proton collision data at collected during 2015 and 2016 with the ATLAS detector at the CERN Large Hadron Collider. The particle X is assumed to decay to a pair of light quarks, and the fully hadronic final state is analysed. The search considers the regime of high XH resonance masses, where the X and H bosons are both highly Lorentz-boosted and are each reconstructed using a single jet with large radius parameter. A two-dimensional phase space of XH mass versus X mass is scanned for evidence of a signal, over a range of XH resonance mass values between 1 TeV and 4 TeV, and for X particles with masses from 50 GeV to 1000 GeV. All search results are consistent with the expectations for the background due to Standard Model processes, and 95% CL upper limits are set, as a function of XH and X masses, on the production cross-section of the resonance

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362

Measurement of the charge ratio of atmospheric muons with the CMS detector

This is the pre-print version of this Article. The official published version can be accessed from the link below - Copyright @ 2010 ElsevierWe present a measurement of the ratio of positive to negative muon fluxes from cosmic ray interactions in the atmosphere, using data collected by the CMS detector both at ground level and in the underground experimental cavern at the CERN LHC. Muons were detected in the momentum range from 5 GeV/c to 1 TeV/c. The surface flux ratio is measured to be 1.2766 \pm 0.0032(stat.) \pm 0.0032 (syst.), independent of the muon momentum, below 100 GeV/c. This is the most precise measurement to date. At higher momenta the data are consistent with an increase of the charge ratio, in agreement with cosmic ray shower models and compatible with previous measurements by deep-underground experiments

Search for a W ' boson decaying to a muon and a neutrino in pp collisions at √s =7 TeV

This is the Pre-Print version of the Article. The official published version can be accessed from the link below - Copyright @ 2011 ElsevierA new heavy gauge boson, W', decaying to a muon and a neutrino, is searched for in pp collisions at a centre-of-mass of 7 TeV. The data, collected with the CMS detector at the LHC, correspond to an integrated luminosity of 36 inverse picobarns. No significant excess of events above the standard model expectation is found in the transverse mass distribution of the muon-neutrino system. Masses below 1.40 TeV are excluded at the 95% confidence level for a sequential standard-model-like W'. The W' mass lower limit increases to 1.58 TeV when the present analysis is combined with the CMS result for the electron channel.This work is supported by the FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA)

Observation of a new Xi(b) baryon

The first observation of a new b baryon via its strong decay into Xi(b)^- pi^+ (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 inverse femtobarns. The known Xi(b)^- baryon is reconstructed via the decay chain Xi(b)^- to J/psi Xi^- to mu^+ mu^- Lambda^0 pi^-, with Lambda^0 to p pi^-. A peak is observed in the distribution of the difference between the mass of the Xi(b)^- pi^+ system and the sum of the masses of the Xi(b)^- and pi^+, with a significance exceeding five standard deviations. The mass difference of the peak is 14.84 +/- 0.74 (stat.) +/- 0.28 (syst.) MeV. The new state most likely corresponds to the J^P=3/2^+ companion of the Xi(b).Comment: Submitted to Physical Review Letter