Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) ε-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin. Previously reported mutations ε1369delG and εR311Q were found to be common; ε1369delG was present on at least one allele in seven of the nine patients, and εR311Q in six. Phenotypes ranged from relatively mild ptosis and external ophthalmoplegia to generalized myasthenia. The common occurrence of εR311Q and ε1369delG suggests a possible founder for each of these mutations originating in North Western Europe, possibly in Holland. Knowledge of the ethnic or geographic origin within Europe of AChR deficiency patients can help in targeting genetic screening and it may be possible to provide a rapid genetic diagnosis for patients of Dutch origin by screening first for εR311Q and ε1369delG

Search for dark mesons decaying to top and bottom quarks in proton-proton collisions at s = 13 TeV with the ATLAS detector

A search for dark mesons originating from strongly-coupled, SU(2) dark flavor symmetry conserving models and decaying gaugephobically to pure Standard Model final states containing top and bottom quarks is presented. The search targets fully hadronic final states and final states with exactly one electron or muon and multiple jets. The analyzed data sample corresponds to an integrated luminosity of 140 fb−1 of proton-proton collisions collected at s = 13 TeV with the ATLAS detector at the Large Hadron Collider. No significant excess over the Standard Model background expectation is observed and the results are used to set the first direct constraints on this type of model. The two-dimensional signal space of dark pion masses mπD and dark rho-meson masses mρD is scanned. For mπD/mρD = 0.45, dark pions with masses mπD< 940 GeV are excluded at the 95% CL, while for mπD/mρD = 0.25 masses mπD< 740 GeV are excluded

Combination of searches for Higgs boson decays into a photon and a massless dark photon using pp collisions at s = 13 TeV with the ATLAS detector

A combination of searches for Higgs boson decays into a visible photon and a massless dark photon (H → γγd) is presented using 139 fb−1 of proton-proton collision data at a centre-of-mass energy of s = 13 TeV recorded by the ATLAS detector at the Large Hadron Collider. The observed (expected) 95% confidence level upper limit on the Standard Model Higgs boson decay branching ratio is determined to be B(H → γγd) < 1.3% (1.5)%. The search is also sensitive to higher-mass Higgs bosons decaying into the same final state. The observed (expected) 95% confidence level limit on the cross-section times branching ratio ranges from 16 fb (20 fb) for mH = 400 GeV to 1.0 fb (1.5 fb) for mH = 3 TeV. Results are also interpreted in the context of a minimal simplified model

Measurements of electroweak W ± Z boson pair production in association with two jets in pp collisions at s = 13 TeV with the ATLAS detector

Measurements of integrated and differential cross-sections for electroweak W±Z production in association with two jets (W±Zjj) in proton-proton collisions are presented. The data collected by the ATLAS detector at the Large Hadron Collider from 2015 to 2018 at a centre-of-mass energy of s = 13 TeV are used, corresponding to an integrated luminosity of 140 fb−1. The W±Zjj candidate events are reconstructed using leptonic decay modes of the gauge bosons. Events containing three identified leptons, either electrons or muons, and two jets are selected. Processes involving pure electroweak W±Zjj production at Born level are separated from W±Zjj production involving a strong coupling. The measured integrated fiducial cross-section of electroweak W±Zjj production per lepton flavour is σWZjj−EW→ℓ′νlljj = 0.368 ± 0.037 (stat.) ± 0.059 (syst.) ± 0.003 (lumi.) fb, where ℓ and ℓ′ are either an electron or a muon. Respective cross-sections of electroweak and strong W±Zjj production are measured separately for events with exactly two jets or with more than two jets, and in three bins of the invariant mass of the two jets. The inclusive W±Zjj production cross-section, without separating electroweak and strong production, is also measured to be σWZjj→ℓ′νlljj = 1.462 ± 0.063 (stat.) ± 0.118 (syst.) ± 0.012 (lumi.) fb, per lepton flavour. The inclusive W±Zjj production cross-section is measured differentially for several kinematic observables. Finally, the measurements are used to constrain anomalous quartic gauge couplings by extracting 95% confidence level intervals on dimension-8 operators

Search for heavy neutral Higgs bosons decaying into a top quark pair in 140 fb − 1 of proton-proton collision data at s = 13 TeV with the ATLAS detector

A search for heavy pseudo-scalar (A) and scalar (H) Higgs bosons decaying into a top-quark pair (tt¯) has been performed with 140 fb−1 of proton-proton collision data collected by the ATLAS experiment at the Large Hadron Collider at a centre-of-mass energy of s = 13 TeV. Interference effects between the signal process and Standard Model (SM) tt¯ production are taken into account. Final states with exactly one or exactly two electrons or muons are considered. No significant deviation from the SM prediction is observed. The results of the search are interpreted in the context of a two-Higgs-doublet model (2HDM) of type II in the alignment limit with mass-degenerate pseudo-scalar and scalar Higgs bosons (mA = mH) and the hMSSM parameterisation of the minimal supersymmetric extension of the Standard Model. Ratios of the two vacuum expectation values, tan β, smaller than 3.49 (3.16) are excluded at 95% confidence level for mA = mH = 400 GeV in the 2HDM (hMSSM). Masses up to 1240 GeV are excluded for the lowest tested tan β value of 0.4 in the 2HDM. In the hMSSM, masses up to 950 GeV are excluded for tan β = 1.0. In addition, generic exclusion limits are derived separately for single scalar and pseudo-scalar states for different choices of their mass and total width

Measurements of the production cross-section for a Z boson in association with b - or c -jets in proton–proton collisions at s = 13 TeV with the ATLAS detector

This paper presents a measurement of the production cross-section of a Z boson in association with b- or c-jets, in proton–proton collisions at s=13 TeV with the ATLAS experiment at the Large Hadron Collider using data corresponding to an integrated luminosity of 140 fb-1. Inclusive and differential cross-sections are measured for events containing a Z boson decaying into electrons or muons and produced in association with at least one b-jet, at least one c-jet, or at least two b-jets with transverse momentum pT>20 GeV and rapidity |y|<2.5. Predictions from several Monte Carlo generators based on next-to-leading-order matrix elements interfaced with a parton-shower simulation, with different choices of flavour schemes for initial-state partons, are compared with the measured cross-sections. The results are also compared with novel predictions, based on infrared and collinear safe jet flavour dressing algorithms. Selected Z+≥1c-jet observables, optimized for sensitivity to intrinsic-charm, are compared with benchmark models with different intrinsic-charm fractions

Precise test of lepton flavour universality in W -boson decays into muons and electrons in pp collisions at s = 13 Te V with the ATLAS detector

The ratio of branching ratios of the W boson to muons and electrons, RWμ/e=B(W→μν)/B(W→eν), has been measured using 140fb-1 of pp collision data at s=13 TeV collected with the ATLAS detector at the LHC, probing the universality of lepton couplings. The ratio is obtained from measurements of the tt¯ production cross-section in the ee, eμ and μμ dilepton final states. To reduce systematic uncertainties, it is normalised by the square root of the corresponding ratio RZμμ/ee for the Z boson measured in inclusive Z→ee and Z→μμ events. By using the precise value of RZμμ/ee determined from e+e- colliders, the ratio RWμ/e is determined to be RWμ/e=0.9995±0.0022(stat)±0.0036(syst)±0.0014(ext).The three uncertainties correspond to data statistics, experimental systematics and the external measurement of RZμμ/ee, giving a total uncertainty of 0.0045, and confirming the Standard Model assumption of lepton flavour universality in W-boson decays at the 0.5% level