Displaying publications 1 - 20 of 197 in total

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  1. Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, et al.
    Am J Hum Genet, 2024 Mar 07;111(3):487-508.
    PMID: 38325380 DOI: 10.1016/j.ajhg.2024.01.007
    Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and congenital anomalies. Overlapping and recurrent facial features were identified in all subjects, including thickening and medial broadening of eyebrows, variations in the shape of the face, external eye abnormalities, smooth and/or long philtrum, and ear abnormalities. Hyperparathyroidism was found in four families with missense variants, and enrichment of different tumor types was observed. In molecular studies, DNA-binding domain variants elicited differential expression of a small set of target genes relative to wild-type ZFX in cultured cells, suggesting a gain or loss of transcriptional activity. Additionally, a zebrafish model of ZFX loss displayed an altered behavioral phenotype, providing additional evidence for the functional significance of ZFX. Our clinical and experimental data support that variants in ZFX are associated with an X-linked intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism.
  2. Beghi E, Ivashynka A, Logroscino G, de Oliveira FF, Fleisher JE, Dumitrascu OM, et al.
    J Neurol, 2023 Nov;270(11):5162-5170.
    PMID: 37682315 DOI: 10.1007/s00415-023-11981-y
    BACKGROUND: Neurological manifestations frequently occur in individuals with COVID-19, manifesting during the acute phase, persisting beyond the resolution of acute symptoms, and appearing days or weeks after the initial onset of COVID-19 symptoms. However, predicting the incidence, course, and outcome of these neurological manifestations at the individual patient level remains challenging. Biases in study design and limitations in data collection may contribute to the inconsistency and limited validity of the reported findings. Herein, we focused on critically appraising pitfalls and biases of prior reports and provide guidance for improving the quality and standardization of future research. Patients with COVID-19 exhibit diverse demographic features, sociocultural backgrounds, lifestyle habits, and comorbidities, all of which can influence the severity and progression of the infection and its impact on other organ systems. Overlooked or undocumented comorbidities and related treatments may contribute to neurological sequelae, which may not solely be attributable to COVID-19. It is crucial to consider the potential side effects of vaccines in relation to neurological manifestations.

    CONCLUSION: To investigate neurological manifestations of COVID-19, it is essential to employ valid and reliable diagnostic criteria and standard definitions of the factors of interest. Although population-based studies are lacking, well-defined inception cohorts, including hospitalized individuals, outpatients, and community residents, can serve as valuable compromises. These cohorts should be evaluated for the presence of common comorbidities, alongside documenting the primary non-neurological manifestations of the infectious disease. Lastly, patients with COVID-19 should be followed beyond the acute phase to assess the persistence, duration, and severity of neurological symptoms, signs, or diseases.

  3. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Oct 13;131(15):151803.
    PMID: 37897747 DOI: 10.1103/PhysRevLett.131.151803
    We present an observation of photon-photon production of τ lepton pairs in ultraperipheral lead-lead collisions. The measurement is based on a data sample with an integrated luminosity of 404  μb^{-1} collected by the CMS experiment at a center-of-mass energy per nucleon pair of sqrt[s_{NN}]=5.02  TeV. The γγ→τ^{+}τ^{-} process is observed for τ^{+}τ^{-} events with a muon and three charged hadrons in the final state. The measured fiducial cross section is σ(γγ→τ^{+}τ^{-})=4.8±0.6(stat)±0.5(syst)  μb, where the second (third) term corresponds to the statistical (systematic) uncertainty in σ(γγ→τ^{+}τ^{-}) in agreement with leading-order QED predictions. Using σ(γγ→τ^{+}τ^{-}), we estimate a model-dependent value of the anomalous magnetic moment of the τ lepton of a_{τ}=0.001_{-0.089}^{+0.055}.
  4. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Sep 08;131(10):101801.
    PMID: 37739361 DOI: 10.1103/PhysRevLett.131.101801
    We present the first direct search for exotic Higgs boson decays H→AA, A→γγ in events with two photonlike objects. The hypothetical particle A is a low-mass spin-0 particle decaying promptly to a merged diphoton reconstructed as a single photonlike object. We analyze the data collected by the CMS experiment at sqrt[s]=13  TeV corresponding to an integrated luminosity of 136  fb^{-1}. No excess above the estimated background is found. We set upper limits on the branching fraction B(H→AA→4γ) of (0.9-3.3)×10^{-3} at 95% confidence level for masses of A in the range 0.1-1.2 GeV.
  5. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Sep 01;131(9):091803.
    PMID: 37721845 DOI: 10.1103/PhysRevLett.131.091803
    The first observation of the production of W^{±}W^{±} bosons from double parton scattering processes using same-sign electron-muon and dimuon events in proton-proton collisions is reported. The data sample corresponds to an integrated luminosity of 138  fb^{-1} recorded at a center-of-mass energy of 13 TeV using the CMS detector at the CERN LHC. Multivariate discriminants are used to distinguish the signal process from the main backgrounds. A binned maximum likelihood fit is performed to extract the signal cross section. The measured cross section for production of same-sign W bosons decaying leptonically is 80.7±11.2(stat) _{-8.6}^{+9.5}(syst)±12.1(model)  fb, whereas the measured fiducial cross section is 6.28±0.81(stat)±0.69(syst)±0.37(model)  fb. The observed significance of the signal is 6.2 standard deviations above the background-only hypothesis.
  6. Katewa A, Haranal M, Madkaiker AN, Saxena S, Srimurugan B, Patel R, et al.
    Indian J Thorac Cardiovasc Surg, 2023 Sep;39(5):497-500.
    PMID: 37609615 DOI: 10.1007/s12055-023-01525-4
    Double outlet both ventricles is a rare abnormal ventriculo-arterial malformation in which both great arterial trunks are committed to both the ventricles, albeit now being recognized with increasing frequency. Patients with the lesion present with a spectrum of clinical manifestations. The size and location of the interventricular communication dictate the feasibility of biventricular repair. Literature on the malformation, however, is sparse. We report our experience with five patients, all of whom underwent successful surgical biventricular repair.
  7. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Aug 11;131(6):061801.
    PMID: 37625071 DOI: 10.1103/PhysRevLett.131.061801
    A search for the standard model Higgs boson decaying to a charm quark-antiquark pair, H→cc[over ¯], produced in association with a leptonically decaying V (W or Z) boson is presented. The search is performed with proton-proton collisions at sqrt[s]=13  TeV collected by the CMS experiment, corresponding to an integrated luminosity of 138  fb^{-1}. Novel charm jet identification and analysis methods using machine learning techniques are employed. The analysis is validated by searching for Z→cc[over ¯] in VZ events, leading to its first observation at a hadron collider with a significance of 5.7 standard deviations. The observed (expected) upper limit on σ(VH)B(H→cc[over ¯]) is 0.94 (0.50_{-0.15}^{+0.22})pb at 95% confidence level (C.L.), corresponding to 14 (7.6_{-2.3}^{+3.4}) times the standard model prediction. For the Higgs-charm Yukawa coupling modifier, κ_{c}, the observed (expected) 95% C.L. interval is 1.1
  8. Tumasyan A, Adam W, Bergauer T, Dragicevic M, Del Valle AE, Frühwirth R, et al.
    Phys Rev Lett, 2023 Aug 04;131(5):051901.
    PMID: 37595238 DOI: 10.1103/PhysRevLett.131.051901
    The structure of nucleons is multidimensional and depends on the transverse momenta, spatial geometry, and polarization of the constituent partons. Such a structure can be studied using high-energy photons produced in ultraperipheral heavy-ion collisions. The first measurement of the azimuthal angular correlations of exclusively produced events with two jets in photon-lead interactions at large momentum transfer is presented, a process that is considered to be sensitive to the underlying nuclear gluon polarization. This study uses a data sample of ultraperipheral lead-lead collisions at sqrt[s_{NN}]=5.02  TeV, corresponding to an integrated luminosity of 0.38  nb^{-1}, collected with the CMS experiment at the LHC. The measured second harmonic of the correlation between the sum and difference of the two jet transverse momentum vectors is found to be positive, and rising, as the dijet transverse momentum increases. A well-tuned model that has been successful at describing a wide range of proton scattering data from the HERA experiments fails to describe the observed correlations, suggesting the presence of gluon polarization effects.
  9. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Jul 28;131(4):041803.
    PMID: 37566864 DOI: 10.1103/PhysRevLett.131.041803
    A search for nonresonant Higgs boson (H) pair production via gluon and vector boson (V) fusion is performed in the four-bottom-quark final state, using proton-proton collision data at 13 TeV corresponding to 138  fb^{-1} collected by the CMS experiment at the LHC. The analysis targets Lorentz-boosted H pairs identified using a graph neural network. It constrains the strengths relative to the standard model of the H self-coupling and the quartic VVHH couplings, κ_{2V}, excluding κ_{2V}=0 for the first time, with a significance of 6.3 standard deviations when other H couplings are fixed to their standard model values.
  10. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Phys Rev Lett, 2023 Jul 07;131(1):011803.
    PMID: 37478454 DOI: 10.1103/PhysRevLett.131.011803
    The first search exploiting the vector boson fusion process to probe heavy Majorana neutrinos and the Weinberg operator at the LHC is presented. The search is performed in the same-sign dimuon final state using a proton-proton collision dataset recorded at sqrt[s]=13  TeV, collected with the CMS detector and corresponding to a total integrated luminosity of 138  fb^{-1}. The results are found to agree with the predictions of the standard model. For heavy Majorana neutrinos, constraints on the squared mixing element between the muon and the heavy neutrino are derived in the heavy neutrino mass range 50 GeV-25 TeV; for masses above 650 GeV these are the most stringent constraints from searches at the LHC to date. A first test of the Weinberg operator at colliders provides an observed upper limit at 95% confidence level on the effective μμ Majorana neutrino mass of 10.8 GeV.
  11. Patel C, Dave B, Patel R, Kumar S, Dattani V, Joshi S, et al.
    Cureus, 2023 May;15(5):e39444.
    PMID: 37250602 DOI: 10.7759/cureus.39444
    INTRODUCTION: Patients with periodontitis are significantly more likely to have undetected diabetes mellitus (DM). Self‑monitoring devices like glucometers provide a simple method for rapid monitoring of the glucose level in blood by utilizing a blood sample from the finger, but this method requires puncturing to obtain blood. Bleeding from the gingival sulcus, obtained during oral hygiene examination, can be utilized for screening DM patients. Therefore, this study was performed with the aim of determining the efficacy of gingival crevicular blood as a non-invasive screening method for DM patients, as well as correlating and comparing gingival crevicular blood glucose (GCBG) levels with finger capillary blood glucose (FCBG) and fasting blood glucose (FBG) among non-diabetic and diabetic group patients.

    METHODS: In this cross-sectional comparative study, a total of 120 participants having moderate to severe gingivitis/periodontitis with an age range of 40 to 65 years were divided into two groups on the basis of FBG range taken from an antecubital vein: non-diabetic (≤126, n=60) and diabetic (≥126, n=60) groups. Blood oozing during the routine periodontal examination from the periodontal pocket was recorded using a test strip of a glucose self-monitoring device (AccuSure®Simple) as GCBG. Concomitantly FCBG was collected from the fingertip. These three parameters were statistically analyzed using the Student's t-test and the one-way ANOVA test and correlated with Pearson's correlation coefficient for both groups.

    RESULTS: The mean and standard deviation for the three parameters GCBG, FBG, and FCBG were 93.78±12.03, 89.98±13.22, and 93.08±15.56, respectively, for the non-diabetic group and 154.52±45.05, 159±47.00, and 162.23±50.60 subsequently for the diabetic group. Comparing glucose level parameters among the non-diabetic and diabetic groups suggests a significant difference with the p-value <0.001*(inter-group). ANOVA test was done for both groups suggesting no significant difference among these three methods of measuring blood glucose level, where the p-value found was 0.272 for the non-diabetic and 0.665 for the diabetic group (intra-group comparison). Pearson's correlation values suggested a good positive correlation for the non-diabetic group, with parameters GCBG and FBG (r=0.864), GCBG and FCBG (r=0.936), and FBG and FCBG (r=0.837). The diabetic group's Pearson's correlation suggested a highly significant positive correlation between three different methods in which GCBG and FBG (r=0.978), GCBG and FBG (r=0.977), and FBG and FCBG (r= 0.982).

    CONCLUSION: Blood oozing from the periodontal pocket during routine oral hygiene examination can be utilized by dental healthcare professionals to screen pre-diabetic patients which can be used as a simple and less invasive method for DM patients.

  12. Choong EKM, Gallagher JE, Patel R
    Gerodontology, 2023 Mar;40(1):1-9.
    PMID: 35246883 DOI: 10.1111/ger.12622
    BACKGROUND: The United Kingdom (UK) has a well-developed health and social care system, and strong research governance. However, there is limited evidence to guide best research practice among vulnerable older people in care homes and there is no consensus on clinical trial methodology that is deliverable in this setting.

    OBJECTIVES: To review the literature on trials conducted among older adults residing in care homes within the UK and collate evidence on their methodological characteristics and outcomes.

    METHODS: A systematic rapid review methodology was employed. MEDLINE, EMBASE and CENTRAL were searched in two incremental stages: stage 1 searched for oral health-related trials conducted within the UK care homes up to July 2021, whereas stage 2 sought for general health-related trials in the same setting from 2011 to 2021. The quality of included studies was assessed using Cochrane's RoB 2 and ROBINS-I tools. Findings were summarised descriptively.

    RESULTS: Five oral health and 33 general health-related trials involving care home residents were included for analysis. The most common trial design was parallel group with two arms (n = 25) involving individual randomisation (n = 21). Consent was mainly obtained from residents and/or their proxies (n = 24), followed by residents only (n = 13) and care homes only (n = 1). Based on available data, the number needed to screen to recruit one participant ranged from 2 to 40 (median: 3; Q1-Q3: 2-9). Attrition rates ranged from 0% to 73% (median: 21%; Q1-Q3: 13%-32%) for follow-up periods between 1 and 52 weeks. The studies were of mixed methodological quality.

    CONCLUSION: This rapid review outlines the methodological characteristics and outcomes of trials conducted among older adults in UK care homes. The findings of this review provide valuable information to assist in navigating and designing future research in this complex setting.

  13. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Eur Phys J C Part Fields, 2023;83(8):722.
    PMID: 37578844 DOI: 10.1140/epjc/s10052-023-11833-z
    The production of Z bosons associated with jets is measured in pp collisions at s=13TeV with data recorded with the CMS experiment at the LHC corresponding to an integrated luminosity of 36.3fb-1. The multiplicity of jets with transverse momentum pT>30GeV is measured for different regions of the Z boson's pT(Z), from lower than 10GeV to higher than 100GeV. The azimuthal correlation Δϕ between the Z boson and the leading jet, as well as the correlations between the two leading jets are measured in three regions of pT(Z). The measurements are compared with several predictions at leading and next-to-leading orders, interfaced with parton showers. Predictions based on transverse-momentum dependent parton distributions and corresponding parton showers give a good description of the measurement in the regions where multiple parton interactions and higher jet multiplicities are not important. The effects of multiple parton interactions are shown to be important to correctly describe the measured spectra in the low pT(Z) regions.
  14. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Dragicevic M, et al.
    Eur Phys J C Part Fields, 2023;83(7):628.
    PMID: 37471210 DOI: 10.1140/epjc/s10052-023-11631-7
    The double differential cross sections of the Drell-Yan lepton pair (ℓ+ℓ-, dielectron or dimuon) production are measured as functions of the invariant mass mℓℓ, transverse momentum pT(ℓℓ), and φη∗. The φη∗ observable, derived from angular measurements of the leptons and highly correlated with pT(ℓℓ), is used to probe the low-pT(ℓℓ) region in a complementary way. Dilepton masses up to 1TeV are investigated. Additionally, a measurement is performed requiring at least one jet in the final state. To benefit from partial cancellation of the systematic uncertainty, the ratios of the differential cross sections for various mℓℓ ranges to those in the Z mass peak interval are presented. The collected data correspond to an integrated luminosity of 36.3fb-1 of proton-proton collisions recorded with the CMS detector at the LHC at a centre-of-mass energy of 13TeV. Measurements are compared with predictions based on perturbative quantum chromodynamics, including soft-gluon resummation.
  15. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, et al.
    Eur Phys J C Part Fields, 2023;83(7):587.
    PMID: 37440247 DOI: 10.1140/epjc/s10052-023-11630-8
    New sets of parameter tunes for two of the colour reconnection models, quantum chromodynamics-inspired and gluon-move, implemented in the pythia  8 event generator, are obtained based on the default CMS pythia  8 underlying-event tune, CP5. Measurements sensitive to the underlying event performed by the CMS experiment at centre-of-mass energies s=7 and 13TeV, and by the CDF experiment at 1.96TeV are used to constrain the parameters of colour reconnection models and multiple-parton interactions simultaneously. The new colour reconnection tunes are compared with various measurements at 1.96, 7, 8, and 13TeV including measurements of the underlying-event, strange-particle multiplicities, jet substructure observables, jet shapes, and colour flow in top quark pair (tt¯) events. The new tunes are also used to estimate the uncertainty related to colour reconnection modelling in the top quark mass measurement using the decay products of tt¯ events in the semileptonic channel at 13TeV.
  16. Sirunyan AM, Tumasyan A, Adam W, Ambrogi F, Bergauer T, Dragicevic M, et al.
    Phys Rev Lett, 2022 Jan 21;128(3):032001.
    PMID: 35119878 DOI: 10.1103/PhysRevLett.128.032001
    The first evidence for X(3872) production in relativistic heavy ion collisions is reported. The X(3872) production is studied in lead-lead (Pb-Pb) collisions at a center-of-mass energy of sqrt[s_{NN}]=5.02  TeV per nucleon pair, using the decay chain X(3872)→J/ψπ^{+}π^{-}→μ^{+}μ^{-}π^{+}π^{-}. The data were recorded with the CMS detector in 2018 and correspond to an integrated luminosity of 1.7  nb^{-1}. The measurement is performed in the rapidity and transverse momentum ranges |y|<1.6 and 15
  17. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Dragicevic M, et al.
    Phys Rev Lett, 2021 Dec 24;127(26):261804.
    PMID: 35029469 DOI: 10.1103/PhysRevLett.127.261804
    A search for long-lived particles (LLPs) produced in decays of standard model (SM) Higgs bosons is presented. The data sample consists of 137  fb^{-1} of proton-proton collisions at sqrt[s]=13  TeV, recorded at the LHC in 2016-2018. A novel technique is employed to reconstruct decays of LLPs in the end cap muon detectors. The search is sensitive to a broad range of LLP decay modes and to masses as low as a few GeV. No excess of events above the SM background is observed. The most stringent limits to date on the branching fraction of the Higgs boson to LLPs subsequently decaying to quarks and τ^{+}τ^{-} are found for proper decay lengths greater than 6, 20, and 40 m, for LLP masses of 7, 15, and 40 GeV, respectively.
  18. Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Dragicevic M, et al.
    Phys Rev Lett, 2021 Nov 05;127(19):191801.
    PMID: 34797136 DOI: 10.1103/PhysRevLett.127.191801
    The first measurements of diboson production cross sections in proton-proton interactions at a center-of-mass energy of 5.02 TeV are reported. They are based on data collected with the CMS detector at the LHC, corresponding to an integrated luminosity of 302  pb^{-1}. Events with two, three, or four charged light leptons (electrons or muons) in the final state are analyzed. The WW, WZ, and ZZ total cross sections are measured as σ_{WW}=37.0_{-5.2}^{+5.5}(stat)_{-2.6}^{+2.7}(syst)  pb, σ_{WZ}=6.4_{-2.1}^{+2.5}(stat)_{-0.3}^{+0.5}(syst)  pb, and σ_{ZZ}=5.3_{-2.1}^{+2.5}(stat)_{-0.4}^{+0.5}(syst)  pb. All measurements are in good agreement with theoretical calculations at combined next-to-next-to-leading order quantum chromodynamics and next-to-leading order electroweak accuracy.
  19. Sirunyan AM, Tumasyan A, Adam W, Bergauer T, Dragicevic M, Erö J, et al.
    Phys Rev Lett, 2021 Sep 17;127(12):122001.
    PMID: 34597080 DOI: 10.1103/PhysRevLett.127.122001
    The first measurement of the dependence of γγ→μ^{+}μ^{-} production on the multiplicity of neutrons emitted very close to the beam direction in ultraperipheral heavy ion collisions is reported. Data for lead-lead interactions at sqrt[s_{NN}]=5.02  TeV, with an integrated luminosity of approximately 1.5  nb^{-1}, are collected using the CMS detector at the LHC. The azimuthal correlations between the two muons in the invariant mass region 88.3. The back-to-back correlation structure from leading-order photon-photon scattering is found to be significantly broader for events with a larger number of emitted neutrons from each nucleus, corresponding to interactions with a smaller impact parameter. This observation provides a data-driven demonstration that the average transverse momentum of photons emitted from relativistic heavy ions has an impact parameter dependence. These results provide new constraints on models of photon-induced interactions in ultraperipheral collisions. They also provide a baseline to search for possible final-state effects on lepton pairs caused by traversing a quark-gluon plasma produced in hadronic heavy ion collisions.
  20. Sirunyan AM, Tumasyan A, Adam W, Ambrogi F, Bergauer T, Dragicevic M, et al.
    Phys Rev Lett, 2021 Sep 03;127(10):102002.
    PMID: 34533355 DOI: 10.1103/PhysRevLett.127.102002
    The CMS experiment at the LHC has measured the differential cross sections of Z bosons decaying to pairs of leptons, as functions of transverse momentum and rapidity, in lead-lead collisions at a nucleon-nucleon center-of-mass energy of 5.02  TeV. The measured Z boson elliptic azimuthal anisotropy coefficient is compatible with zero, showing that Z bosons do not experience significant final-state interactions in the medium produced in the collision. Yields of Z bosons are compared to Glauber model predictions and are found to deviate from these expectations in peripheral collisions, indicating the presence of initial collision geometry and centrality selection effects. The precision of the measurement allows, for the first time, for a data-driven determination of the nucleon-nucleon integrated luminosity as a function of lead-lead centrality, thereby eliminating the need for its estimation based on a Glauber model.
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