Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes

There is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The study of the common genetic variation in ASD has suggested a greater contribution of other psychiatric conditions in Asperger syndrome (AS) than in the rest of the DSM-IV ASD subtypes (Non_AS). Here, using available genetic data from previously performed genome-wide association studies (GWAS), we aimed to study the genetic overlap between five of the most related disorders (schizophrenia (SCZ), major depression disorder (MDD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorders (OCD) and anxiety (ANX)), and AS, comparing it with the overlap in Non_AS subtypes. A Spanish cohort of autism trios (N = 371) was exome sequenced as part of the Autism Sequencing Consortium (ASC) and 241 trios were extensively characterized to be diagnosed with AS following DSM-IV and Gillberg's criteria (N = 39) or not (N = 202). Following exome imputation, polygenic risk scores (PRS) were calculated for ASD, SCZ, ADHD, MDD, ANX, and OCD (from available summary data from Psychiatric Genomic Consortium (PGC) repository) in the Spanish trios' cohort. By using polygenic transmission disequilibrium test (pTDT), we reported that risk for SCZ (Pscz = 0.008, corrected-PSCZ = 0.0409), ADHD (PADHD = 0.021, corrected-PADHD = 0.0301), and MDD (PMDD = 0.039, corrected-PMDD = 0.0501) is over-transmitted to children with AS but not to Non_AS. Indeed, agnostic clustering procedure with deviation values from pTDT tests suggested two differentiated clusters of subjects, one of which is significantly enriched in AS (P = 0.025). Subsequent analysis with S-Predixcan, a recently developed software to predict gene expression from genotype data, revealed a clear pattern of correlation between cortical gene expression in ADHD and AS (P < 0.001) and a similar strong correlation pattern between MDD and AS, but also extendable to another non-brain tissue such as lung (P < 0.001). Altogether, these results support the idea of AS being qualitatively distinct from Non_AS autism and consistently evidence the genetic overlap between AS and ADHD, MDD, or SCZ

Accuracy of transcutaneous bilirubin on covered skin in preterm and term newborns receiving phototherapy using a JM-105 bilirubinometer

OBJECTIVE: Determine the suitability of transcutaneous bilirubin (TCB) as a tool to assess the effectiveness of phototherapy on patched skin. STUDY DESIGN: A prospective observational study was conducted. We covered a fragment of skin (sternum) with a photo-opaque patch. Several simultaneous TCB and TSB measurements were performed with the JM-105 bilirubinometer. Bland and Altman test evaluated the agreement between bilirubin levels. RESULT: A total of 217 patients were studied, 48.8% were preterm. The mean difference between TSB and TCB before the start of treatment was 1.07 mg/dL. During phototherapy, differences on covered skin were 0.52, 0.27, and 0.39 mg/dL at 24, 48, and 72 h of therapy respectively. The best correlation was observed at 48 h in preterm infants. CONCLUSION: The measurement of TCB on patched skin (PTCB) is useful for monitoring the response to phototherapy in term and preterm infants. We use a patch with a removable flap that eases successive measures without disturbing the patients

Local- versus broad-scale environmental drivers of continental &#946;-diversity patterns in subterranean spider communities across Europe

Macroecologists seek to identify drivers of community turnover (β-diversity) through broad spatial scales. However, the influence of local habitat features in driving broad-scale β-diversity patterns remains largely untested, owing to the objective challenges of associating local-scale variables to continental-framed datasets. We examined the relative contribution of local- versus broad-scale drivers of continental β-diversity patterns, using a uniquely suited dataset of cave-dwelling spider communities across Europe (35–70° latitude). Generalized dissimilarity modelling showed that geographical distance, mean annual temperature and size of the karst area in which caves occurred drove most of β-diversity, with differential contributions of each factor according to the level of subterranean specialization. Highly specialized communities were mostly influenced by geographical distance, while less specialized communities were mostly driven by mean annual temperature. Conversely, local-scale habitat features turned out to be meaningless predictors of community change, which emphasizes the idea of caves as the human accessible fraction of the extended network of fissures that more properly represents the elective habitat of the subterranean fauna. To the extent that the effect of local features turned to be inconspicuous, caves emerge as experimental model systems in which to study broad biological patterns without the confounding effect of local habitat features

Anti-tumour necrosis factor discontinuation in inflammatory bowel disease patients in remission: study protocol of a prospective, multicentre, randomized clinical trial

Background: Patients with inflammatory bowel disease who achieve remission with anti-tumour necrosis factor (anti-TNF) drugs may have treatment withdrawn due to safety concerns and cost considerations, but there is a lack of prospective, controlled data investigating this strategy. The primary study aim is to compare the rates of clinical remission at 1?year in patients who discontinue anti-TNF treatment versus those who continue treatment. Methods: This is an ongoing, prospective, double-blind, multicentre, randomized, placebo-controlled study in patients with Crohn?s disease or ulcerative colitis who have achieved clinical remission for ?6?months with an anti-TNF treatment and an immunosuppressant. Patients are being randomized 1:1 to discontinue anti-TNF therapy or continue therapy. Randomization stratifies patients by the type of inflammatory bowel disease and drug (infliximab versus adalimumab) at study inclusion. The primary endpoint of the study is sustained clinical remission at 1?year. Other endpoints include endoscopic and radiological activity, patient-reported outcomes (quality of life, work productivity), safety and predictive factors for relapse. The required sample size is 194 patients. In addition to the main analysis (discontinuation versus continuation), subanalyses will include stratification by type of inflammatory bowel disease, phenotype and previous treatment. Biological samples will be obtained to identify factors predictive of relapse after treatment withdrawal. Results: Enrolment began in 2016, and the study is expected to end in 2020. Conclusions: This study will contribute prospective, controlled data on outcomes and predictors of relapse in patients with inflammatory bowel disease after withdrawal of anti-TNF agents following achievement of clinical remission. Clinical trial reference number: EudraCT 2015-001410-1

Measurement of the photon polarization in Λb→Λγ\Lambda_b \to \Lambda \gamma decays

The photon polarization in $b \to s \gamma$ transitions is measured for the first time in radiative b-baryon decays exploiting the unique spin structure of $\Lambda_b \to \Lambda \gamma$ decays. A data sample corresponding to an integrated luminosity of $6\;fb^{-1}$ collected by the LHCb experiment in $pp$ collisions at a center-of-mass energy of $13\;TeV$ is used. The photon polarization is measured to be $\alpha_{\gamma}= 0.82^{\,+\,0.17\,+\,0.04}_{\,-\,0.26\,-\,0.13}$, where the first uncertainty is statistical and the second systematic. This result is in agreement with the Standard Model prediction and previous measurements in b-meson decays. Charge-parity breaking effects are studied for the first time in this observable and found to be consistent with $CP$ symmetry.Comment: All figures and tables, along with machine-readable versions and any supplementary material and additional information, are available at https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2021-030.html (LHCb public pages

Angular analysis of D0→π+π−μ+μ−D^0 \to \pi^+\pi^-\mu^+\mu^- and D0→K+K−μ+μ−D^0 \to K^+K^-\mu^+\mu^- decays and search for CPCP violation

The first full angular analysis and an updated measurement of the decay-rate $CP$ asymmetry of the $D^0 \to \pi^+\pi^-\mu^+\mu^-$ and $D^0 \to K^+K^-\mu^+\mu^-$ decays are reported. The analysis uses proton-proton collision data collected with the LHCb detector at centre-of-mass energies of 7, 8 and 13 TeV. The data set corresponds to an integrated luminosity of 9 fb$^{-1}$. The full set of $CP$-averaged angular observables and their $CP$ asymmetries are measured as a function of the dimuon invariant mass. The results are consistent with expectations from the standard model and with $CP$ symmetry.Comment: All figures and tables, along with any supplementary material and additional information, are available at https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2021-035.html (LHCb public pages

Branching Fraction Measurements of the Rare B-s(0) -> phi mu(+)mu(-) and B-s(0)-> f(2)' (1525)mu(+)mu(-) Decays

The branching fraction of the rare B 0 s → ϕ μ + μ − decay is measured using data collected by the LHCb experiment at center-of-mass energies of 7, 8, and 13 TeV, corresponding to integrated luminosities of 1, 2, and 6     fb − 1 , respectively. The branching fraction is reported in intervals of q 2 , the square of the dimuon invariant mass. In the q 2 region between 1.1 and 6.0     GeV 2 / c 4 , the measurement is found to lie 3.6 standard deviations below a standard model prediction based on a combination of light cone sum rule and lattice QCD calculations. In addition, the first observation of the rare B 0 s → f ′ 2 ( 1525 ) μ + μ − decay is reported with a statistical significance of 9 standard deviations and its branching fraction is determined

Tests of lepton universality using B0→KS0ℓ+ℓ−B^0\to K^0_S \ell^+ \ell^- and B+→K∗+ℓ+ℓ−B^+\to K^{*+} \ell^+ \ell^- decays

Tests of lepton universality in $B^0\to K^0_S \ell^+ \ell^-$ and $B^+\to K^{*+} \ell^+ \ell^-$ decays where $\ell$ is either an electron or a muon are presented. The differential branching fractions of $B^0\to K^0_S e^+ e^-$ and $B^+\to K^{*+} e^+ e^-$ decays are measured in intervals of the dilepton invariant mass squared. The measurements are performed using proton-proton collision data recorded by the LHCb experiment, corresponding to an integrated luminosity of $9\, \mathrm{fb}^{-1}$. The results are consistent with the Standard Model and previous tests of lepton universality in related decay modes. The first observation of $B^0 \to K^0_S e^+ e^-$ and $B^+ \to K^{*+} e^+ e^-$ decays is reported

First measurement of the C P -violating phase in B s 0 → J / ψ ( → e + e - ) ϕ decays

Abstract: A flavour-tagged time-dependent angular analysis of Bs0→J/ψϕ decays is presented where the J/ψ meson is reconstructed through its decay to an e+e- pair. The analysis uses a sample of pp collision data recorded with the LHCb experiment at centre-of-mass energies of 7 and 8\,Te V, corresponding to an integrated luminosity of 3\,fb-1. The CP-violating phase and lifetime parameters of the Bs0 system are measured to be ϕs=0.00±0.28±0.07\,rad, ΔΓs=0.115±0.045±0.011\,ps-1 and Γs=0.608±0.018±0.012\,ps-1 where the first uncertainty is statistical and the second systematic. This is the first time that CP-violating parameters are measured in the Bs0→J/ψϕ decay with an e+e- pair in the final state. The results are consistent with previous measurements in other channels and with the Standard Model predictions

Searches for rare B-s(0) and B-0 decays into four muons

Searches for rare $B_s^0$ and $B^0$ decays into four muons are performed using proton-proton collision data recorded by the LHCb experiment, corresponding to an integrated luminosity of 9 $\text{fb}^{-1}$. Direct decays and decays via light scalar and $J/\psi$ resonances are considered. No evidence for the six decays searched for is found and upper limits at the 95% confidence level on their branching fractions ranging between $1.8\times10^{-10}$ and $2.6\times10^{-9}$ are set