Search for Soft Unclustered Energy Patterns in Proton-Proton Collisions at 13 TeV.

The first search for soft unclustered energy patterns (SUEPs) is performed using an integrated luminosity of 138  fb^{-1} of proton-proton collision data at sqrt[s]=13  TeV, collected in 2016-2018 by the CMS detector at the LHC. Such SUEPs are predicted by hidden valley models with a new, confining force with a large 't Hooft coupling. In events with boosted topologies, selected by high-threshold hadronic triggers, the multiplicity and sphericity of clustered tracks are used to reject the background from standard model quantum chromodynamics.

Search for the Z Boson Decay to ττμμ in Proton-Proton Collisions at sqrt[s]=13 TeV.

The first search for the Z boson decay to ττμμ at the CERN LHC is presented, based on data collected by the CMS experiment at the LHC in proton-proton collisions at a center-of-mass energy of 13 TeV and corresponding to an integrated luminosity of 138  fb^{-1}. The data are compatible with the predicted background. For the first time, an upper limit at the 95% confidence level of 6.

New Constraint for Isotropic Lorentz Violation from LHC Data.

New calculations for the kinematics of photon decay to fermions in vacuo under an isotropic violation of Lorentz invariance (LV), parametrized by the standard-model extension, are presented in this Letter and used to interpret prompt photon production in LHC data. The measurement of inclusive prompt photon production at the LHC Run 2, with photons observed up to a transverse energy of 2.5 TeV, provides the lower bound κ[over ˜]_{tr}>-1.

Effects of cannabis smoking on the respiratory system: A state-of-the-art review.

The diminished perception of the health risks associated with the consumption of cannabis (marijuana) lead to a progressive increase in its inhalational use in many countries. Cannabis can be smoked through the use of joints, spliffs and blunts, and it can be vaporised with the use of hookah or e-cigarettes. Delta-9 tetrahydrocannabinol (THC) is the main psychoactive component of cannabis smoke but contains numerous other substances.

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However, in utero corpus callosum anomalies rarely raise a suspicion of mitochondrial disease and are characterized by a very large clinical heterogeneity.

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase domain have more recently been shown to be the underlying basis of the distinct autosomal dominant multisystem lipodystrophy disorder, MDPL (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM # 615381), most commonly a recurrent in-frame deletion of serine at position 604, accounting for 18 of the 21 reported cases of this condition.

From P4 medicine to P5 medicine: transitional times for a more human-centric approach to AI-based tools for hospitals of tomorrow.

Within the debate on shaping future clinical services, where different robotics and artificial intelligence (AI) based technologies are integrated to perform tasks, the authors take the chance to provide an interdisciplinary analysis required to validate a tool aiming at supporting the melanoma cancer diagnosis. In particular, they focus on the ethical-legal and technical requirements needed to address the Assessment List on Trustworthy AI (ALTAI), highlighting some pros and cons of the adopted self-assessment checklist. The dialogue stimulates additionally remarks on the EU regulatory initiatives on AI in the healthcare systems.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Purpose: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.

Training Simulators for Gastrointestinal Endoscopy: Current and Future Perspectives.

Gastrointestinal (GI) endoscopy is the gold standard in the detection and treatment of early and advanced GI cancers. However, conventional endoscopic techniques are technically demanding and require visual-spatial skills and significant hands-on experience. GI endoscopy simulators represent a valid solution to allow doctors to practice in a pre-clinical scenario.

Higher Temperatures Yield Smaller Grains in a Thermally Stable Phase-Transforming Nanocrystalline Alloy.

Grains in crystalline materials usually grow with increased thermal exposure. Classical phenomena such as recrystallization may lead to a purely temporary decrease in the grain size, while recent advances in alloy design can yield thermally stable nanocrystalline materials in which grain growth stagnates. But grains never shrink, since there is a lack of interface-generating mechanisms at high temperatures, which are required to decrease the grain size if such was the system's thermodynamic tendency.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the internalization of excitatory, glutamatergic AMPA receptors by disassembling complexes between the AMPA receptor-binding protein, GRIP1, and the AMPA receptor subunit GluA2.

Are the school prevention programmes - aimed at de-normalizing smoking among youths - beneficial in the long term? An example from the Smoke Free Class Competition in Italy.

Tobacco smoking by young people is of great concern because it usually leads to regular smoking, nicotine addiction and quitting difficulties. Young people "hooked" by tobacco maintain the profits of the tobacco industry by replacing smokers who quit or die. If new generations could be tobacco-free, as supported by tobacco endgame strategies, the tobacco epidemic could end within decades.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS.

Methods: We performed ultradeep next-generation sequencing (NGS) of PIK3CA in various tissues from 162 patients referred to our clinical laboratory and assessed diagnostic yield by phenotype and tissue tested.

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few diagnostic hypotheses to test.

Phenomenological Transition of an Aluminum Surface in an Ionic Liquid and Its Beneficial Implementation in Batteries.

Aluminum (Al) electrochemical dissolution in organic nonaqueous media and room temperature ionic liquids (RTILs) is partially hampered by the presence of a native oxide. In this work, Al activation in EMIm(HF)2.3F RTIL is reported.