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Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Due to the rarity of this condition, there is little data on phenotype-genotype correlations. This report summarizes genotype-based recommendations for screening patients with PTCH1 and SUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 in PTCH1, and at age 20 in SUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 for PTCH1 PV carriers only. For medulloblastomas, repeated brain MRI from birth to 5 years should be proposed for SUFU PV carriers only. Brain MRI for meningiomas and pelvic ultrasound for ovarian fibromas should be offered to both PTCH1 and SUFU PV carriers. Follow-up of patients treated with radiotherapy should be prolonged and thorough because of the risk of secondary malignancies. Prospective evaluation of evidence of the effectiveness of these surveillance recommendations is required. [ABSTRACT FROM AUTHOR]

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In cold dark matter cosmological models, structures form and grow through the merging of smaller units. Numerical simulations have shown that such merging is incomplete; the inner cores of haloes survive and orbit as ‘subhaloes’ within their hosts. Here we report a simulation that resolves such substructure even in the very inner regions of the Galactic halo. We find hundreds of very concentrated dark matter clumps surviving near the solar circle, as well as numerous cold streams. The simulation also reveals the fractal nature of dark matter clustering: isolated haloes and subhaloes contain the same relative amount of substructure and both have cusped inner density profiles. The inner mass and phase-space densities of subhaloes match those of recently discovered faint, dark-matter-dominated dwarf satellite galaxies, and the overall amount of substructure can explain the anomalous flux ratios seen in strong gravitational lenses. Subhaloes boost γ-ray production from dark matter annihilation by factors of 4 to 15 relative to smooth galactic models. Local cosmic ray production is also enhanced, typically by a factor of 1.4 but by a factor of more than 10 in one per cent of locations lying sufficiently close to a large subhalo. (These estimates assume that the gravitational effects of baryons on dark matter substructure are small.) [ABSTRACT FROM AUTHOR]

Using the JADE detector at PETRA, a search for hadronic events with isolated leptons in e e annihilation was performed. No evidence was found for the production of leptoquarks or color octet leptons and mass limits were obtained. Three hadronic events, each of them with two isolated muons, were detected and found to be in agreement with predictions of the α QED process $$e^ + e^ - \to q\bar q\mu ^ + \mu ^ - $$ . At the highest PETRA energies, $$46.30 Gev \leqq \sqrt s \leqq 46.78$$ , five events with low thrust, T<0.8, and a muon at a large angle with respect to the thrust axis, |cos δ|<0.7, were observed. The number of such events expected from an extrapolation of control data at lower energies is 0.56±0.18. No satisfactory explanation for the excess in terms of background could be found. A corresponding excess of electron events was not seen. [ABSTRACT FROM AUTHOR]

Muon inclusive multihadronic final states in e e annihilation at $$\langle \sqrt s \rangle $$ =34.6 GeV, collected by the JADE detector at PETRA, have been analysed in terms of the semi-muonic branching ratios and fragmentation functions of heavy quarks. Defining the fragmentation variable, ζ, as $$z = \frac{{\left( {E + p_\parallel } \right)_{hadron} }}{{\left( {E + p} \right)_{quark} }}$$ we find < z>=(77±3±5)% and < z>=(86±4±5)%. The corresponding semi-muonic branching ratios are measured to be BR( c→μ v X)=7.8±1.5±2)% and BR ( b→μ v X)=(11.7±1.6±1.5)%. Defining ζ as $$x_E = \frac{{E_{hadron} }}{{E_{beam} }}$$ we observe an expected softening effect in the fragmentation due mainly to gluon emission, but find that this definition leads to semi-muonic branching ratiomeasurements which are strongly affected by uncertainties in the fragmentation process and the WCD calculation. [ABSTRACT FROM AUTHOR]

Hadronic jet production by e e-annihilation has been studied in the energy range of 14.0-46.7 GeV. The data have been analysed in terms of a cluster algorithm and other topological quantities. The results are compared with 2 order QCD calculations which incorporate models for the fragmentation of quarks and gluons into hadrons. At the higher energies we observe more spherical and 4-jet like events than predicted by these calculations. We cannot achieve a simultaneous description of the observed 3- and 4-jet production by adjusting the strong coupling constant α or the fragmentation parameters of the 2 order QCD models. The observed excess of spherical events can partially be explained by the production of multi-parton events expected from higher order QCD contributions. Consequences of the presented results for the value of α, determined in previous analyses, are discussed. QCD parton shower models, including soft gluon interference, are able to describe the observed number of spherical events. [ABSTRACT FROM AUTHOR]

A study of radiative τ pair production, e e→ττγ and e e→ττγγ, is presented. The observed events agree with QED predictions of order α and α. Excited τ′s have been searched for and lower limits on single and pair production are obtained. For QED-like coupling the τ mass is limited to values greater than 40 GeV (95% CL). A search for unstable charged scalars ( S) decaying into τ, e.g. charged Higgs, technipions or the supersymmetric partners of τ′s, yields no evidence for such particles. Assuming a branching fraction of B( S→τν)=1, S masses up to 18.7 GeV are excluded with 95% CL. [ABSTRACT FROM AUTHOR]

The production of collinear muon pairs has been studied using the JADE detector at the e e storage ring at PETRA. Results for the total cross section and the angular distribution were obtained at centre of mass (cm) energies ranging from 12 to 46 GeV. The data correspond to an integrated luminosity of fLdt>90 pb, of which 71.2 pb were taken at $$\left\langle {\sqrt s } \right\rangle $$ =34.4 GeV and 17 pb at $$\left\langle {\sqrt s } \right\rangle $$ =42.4 GeV. The results are compared to electroweak theories, in particular the 'Standard Model'. [ABSTRACT FROM AUTHOR]