| 1. |
- Bang Madsen, Kathrine, et al.
(författare)
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Attention-Deficit Hyperactivity Disorder (ADHD) Medication Use Trajectories Among Women in the Perinatal Period
- 2024
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Ingår i: CNS Drugs. - : Adis International Ltd.. - 1172-7047 .- 1179-1934. ; 38, s. 301-314
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: An increasing number of women of reproductive age are treated with attention-deficit hyperactivity disorder (ADHD) medication; however, patterns of ADHD medication use for women in the perinatal period have not been well described.OBJECTIVE: This study aimed to describe ADHD medication use patterns from 1 year before pregnancy to 1 year after delivery, and to describe sociodemographic characteristics and clinical features by medication trajectories.METHODS: The population-based cohort study included pregnancies in Denmark between 1997 and 2020, from the Medical Birth Register, by women who filled at least one prescription for ADHD medication from 12 months before pregnancy until 12 months after delivery. We applied group-based trajectory modeling to classify women into subgroups based on the identification of heterogeneous ADHD medication treatment patterns, and described the characteristics associated with these groups.RESULTS: Overall, we included 4717 pregnancies leading to liveborn singletons by 4052 mothers with a mean (standard deviation) age of 27.5 (5.6) years. We identified four treatment trajectories across pregnancy and the postpartum period: continuers (23.3%), discontinuers (41.8%), interrupters who ceased filling prescriptions during pregnancy but resumed postpartum (17.2%), and postpartum initiators (17.7%). Continuers were older at the time of conception, gave birth in more recent years, were more likely to smoke during pregnancy, and used other psychotropic medications during pregnancy. A large proportion of continuers used methylphenidate (89.1%) compared with the other groups (75.9-84.1%) and had switched ADHD medication type during the whole period (16.4% vs. 7.4-14.8%).CONCLUSION: We found that approximately 60% of women discontinued or interrupted their ADHD medication around pregnancy, and those who continued differed in sociodemographic and clinical factors that may reflect more severe ADHD.
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| 2. |
- Madsen, Mads, et al.
(författare)
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Well-Being, Physical Fitness, and Health Profile of 2,203 Danish Girls Aged 10-12 in Relation to Leisure-time Sports Club Activity-With Special Emphasis on the Five Most Popular Sports
- 2022
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Ingår i: Strength and conditioning journal. - Philadelphia, PA : Lippincott Williams & Wilkins. - 1524-1602 .- 1533-4295. ; 36:8, s. 2283-2290
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Tidskriftsartikel (refereegranskat)abstract
- This study investigated the relationship between leisure-time sports club activities and well-being as well as physical health parameters in 10-12-year-old Danish girls. Two thousand two hundred three girls took part in the study, which included questionnaires on participation in leisure-time sports clubs, well-being, Yo-Yo intermittent recovery level 1 children's test, long jump, balance tests, body composition, blood pressure (BP), and resting heart rate (RHR). Data were analyzed according to whether the girls participated in leisure-time sport and according to the 5 most frequently reported sports. Girls enrolled in leisure-time sports had higher physical well-being (49.3 ± 8.6 vs. 45.2 ± 8.3), psychological well-being (50.4 ± 9.0 vs. 49.4 ± 9.8), experienced more peer and social support (50.2 ± 10.0 vs. 48.9 ± 10.7), and perceived a more positive school environment (52.5 ± 8.0 vs. 50.5 ± 9.3), as well as showing higher Yo-Yo (+39%), long jump (+10%), and balance performance (+15%) than girls not involved in sport clubs. The girls active in sports clubs had higher relative muscle mass (+5%), lower fat percentage (-11%), body mass index (-5%), RHR (-3.4 b·min-1), and diastolic BP (-1.4 mm Hg) compared with girls not involved in sport (p<0.05). Girls who played soccer showed higher aerobic fitness compared with inactive girls (+67%), dancers (+39%), swimmers (+38%), and gymnasts (+16%). Gymnasts had a lower fat percentage than inactive girls (-19%), team handballers (-10%), swimmers (-12%), and soccer players (-4%). Girls participating in club-based leisure-time sports showed higher well-being and better fitness and health profiles than girls not involved in any sports club activities. Girls involved in soccer had better aerobic fitness and gymnasts a lower fat percentage. Copyright © 2020 National Strength and Conditioning Association.
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| 3. |
- Aaboud, M, et al.
(författare)
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Measurement of lepton differential distributions and the top quark mass in tt¯ production in pp collisions at √s=8 TeV with the ATLAS detector
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:11
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents single lepton and dilepton kinematic distributions measured in dileptonic tt¯ events produced in 20.2fb - 1 of s=8 TeV pp collisions recorded by the ATLAS experiment at the LHC. Both absolute and normalised differential cross-sections are measured, using events with an opposite-charge eμ pair and one or two b-tagged jets. The cross-sections are measured in a fiducial region corresponding to the detector acceptance for leptons, and are compared to the predictions from a variety of Monte Carlo event generators, as well as fixed-order QCD calculations, exploring the sensitivity of the cross-sections to the gluon parton distribution function. Some of the distributions are also sensitive to the top quark pole mass; a combined fit of NLO fixed-order predictions to all the measured distributions yields a top quark mass value of mtpole=173.2±0.9±0.8±1.2 GeV, where the three uncertainties arise from data statistics, experimental systematics, and theoretical sources. © 2017, CERN for the benefit of the ATLAS collaboration.
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| 4. |
- Aaboud, M, et al.
(författare)
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Search for Dark Matter Produced in Association with a Higgs Boson Decaying to b b Using 36 fb-1 of pp Collisions at s =13 TeV with the ATLAS Detector
- 2017
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Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 119:18
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Tidskriftsartikel (refereegranskat)abstract
- Several extensions of the standard model predict associated production of dark-matter particles with a Higgs boson. Such processes are searched for in final states with missing transverse momentum and a Higgs boson decaying to a bb pair with the ATLAS detector using 36.1 fb-1 of pp collisions at a center-of-mass energy of 13 TeV at the LHC. The observed data are in agreement with the standard model predictions and limits are placed on the associated production of dark-matter particles and a Higgs boson. © 2017 CERN, for the ATLAS Collaboration. Published by the American Physical Society.
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| 5. |
- Abulaiti, Yiming, et al.
(författare)
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Measurement of inclusive and differential cross sections in the H -> ZZ* -> 4l decay channel in pp collisions at root s=13 TeV with the ATLAS detector
- 2017
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Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
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Tidskriftsartikel (refereegranskat)abstract
- Inclusive and differential fiducial cross sections of Higgs boson production in proton-proton collisions are measured in the H -> Z Z* -> 4l decay channel. The proton-proton collision data were produced at the Large Hadron Collider at a centre-of-mass energy of 13 TeV and recorded by the ATLAS detector in 2015 and 2016, corresponding to an integrated luminosity of 36.1 fb(-1). The inclusive fiducial cross section in the H -> Z Z* -> 4l decay channel is measured to be 3.62 +/- 0.50 (stat) (+0.25)(-0.20) (sys) fb, in agreement with the Standard Model prediction of 2.91 +/- 0.13 fb. The cross section is also extrapolated to the total phase space including all Standard Model Higgs boson decays. Several differential fiducial cross sections are measured for observables sensitive to the Higgs boson production and decay, including kinematic distributions of jets produced in association with the Higgs boson. Good agreement is found between data and Standard Model predictions. The results are used to put constraints on anomalous Higgs boson interactions with Standard Model particles, using the pseudo-observable extension to the kappa-framework.
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| 6. |
- Abulaiti, Yiming, et al.
(författare)
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Measurement of multi-particle azimuthal correlations in pp, p plus Pb and low-multiplicity Pb plus Pb collisions with the ATLAS detector
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:6
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Tidskriftsartikel (refereegranskat)abstract
- Multi-particle cumulants and corresponding Fourier harmonics are measured for azimuthal angle distributions of charged particles in pp collisions at root S = 5.02 and 13 TeV and in p + Pb collisions at root S-NN = 5.02 TeV, and compared to the results obtained for low-multiplicity Pb + Pb collisions at root S-NN = 2.76 TeV. These measurements aim to assess the collective nature of particle production. The measurements of multi-particle cumulants confirm the evidence for collective phenomena in p + Pb and low-multiplicity Pb + Pb collisions. On the other hand, the pp results for four-particle cumulants do not demonstrate collective behaviour, indicating that they may be biased by contributions from non-flow correlations. A comparison of multi-particle cumulants and derived Fourier harmonics across different collision systems is presented as a function of the charged-particle multiplicity. For a given multiplicity, the measured Fourier harmonics are largest in Pb + Pb, smaller in p + Pb and smallest in pp collisions. The pp results show no dependence on the collision energy, nor on the multiplicity.
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| 7. |
- Abulaiti, Yiming, et al.
(författare)
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Measurement of WW/WZ -> lvqq ' production with the hadronically decaying boson reconstructed as one or two jets in pp collisions at root s=8 TeV with ATLAS, and constraints on anomalous gauge couplings
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:8
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a study of the production of WW or WZ boson pairs, with one W boson decaying to ev or mu v and one W or Z boson decaying hadronically. The analysis uses 20.2 fb(-1) of root s = 8 TeV pp collision data, collected by the ATLAS detector at the Large Hadron Collider. Crosssections for WW/WZ production are measured in high-p(T) fiducial regions defined close to the experimental event selection. The cross-section is measured for the case where the hadronically decaying boson is reconstructed as two resolved jets, and the case where it is reconstructed as a single jet. The transverse momentum distribution of the hadronically decaying boson is used to search for new physics. Observations are consistent with the Standard Model predictions, and 95% confidence intervals are calculated for parameters describing anomalous triple gauge-boson couplings.
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| 8. |
- Abulaiti, Yiming, et al.
(författare)
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Search for direct top squark pair production in final states with two leptons in root s=13 TeV pp collisions with the ATLAS detector
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:12
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Tidskriftsartikel (refereegranskat)abstract
- The results of a search for direct pair production of top squarks in events with two opposite-charge leptons (electrons or muons) are reported, using 36.1 fb(-1) of integrated luminosity from proton-proton collisions at root s = 13 TeV collected by the ATLAS detector at the Large Hadron Collider. To cover a range of mass differences between the top squark (t) over tilde and lighter supersymmetric particles, four possible decay modes of the top squark are targeted with dedicated selections: the decay (t) over tilde -> b (chi) over tilde (+/-)(1) into a b-quark and the lightest chargino with (chi) over tilde (+/-)(1) W (chi) over tilde (0)(1),the decay (t) over tilde -> t (chi) over tilde (0)(1) into an on-shell top quark and the lightest neutralino, the three-body decay (t) over tilde -> bW (chi) over tilde (0)(1) and the four-body decay (t) over tilde -> bl nu(chi) over tilde (0)(1). No significant excess of events is observed above the Standard Model background for any selection, and limits on top squarks are set as a function of the (t) over tilde and (chi) over tilde (0)(1) masses. The results exclude at 95% confidence level (t) over tilde masses up to about 720 GeV, extending the exclusion region of supersymmetric parameter space covered by previous searches.
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| 9. |
- Abulaiti, Yiming, et al.
(författare)
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Search for new high-mass phenomena in the dilepton final state using 36 fb(-1) of proton-proton collision data at root s=13 TeV with the ATLAS detector
- 2017
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer-Verlag New York. - 1126-6708 .- 1029-8479. ; :10
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Tidskriftsartikel (refereegranskat)abstract
- A search is conducted for new resonant and non-resonant high-mass phenomena in dielectron and dimuon fi nal states. The search uses 36 : 1 fb(-1) of proton-proton collision data, collected at root s = 13TeV by the ATLAS experiment at the LHC in 2015 and 2016. No signi fi cant deviation from the Standard Model prediction is observed. Upper limits at 95% credibility level are set on the cross-section times branching ratio for resonances decaying into dileptons, which are converted to lower limits on the resonance mass, up to 4.1 TeV for the E-6 -motivated Z(X)'. Lower limits on the qqll contact interaction scale are set between 2.4 TeV and 40 TeV, depending on the model.
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| 10. |
- Abulaiti, Yiming, et al.
(författare)
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Search for super symmetry inevents with b-tagged jets and missing transverse momentum in pp collisions at root s=13 TeV with the ATLAS detector
- 2017
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer. - 1126-6708 .- 1029-8479. ; :11
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Tidskriftsartikel (refereegranskat)abstract
- A search for the supersymmetric partners of the Standard Model bottom and top quarks is presented. The search uses 36.1 fb(-1) of pp collision data at root s = 13 TeV collected by the ATLAS experiment at the Large Hadron Collider. Direct production of pairs of bottom and top squarks ((b) over bar (1) and (t) over bar (1)) is searched for in final states with b-tagged jets and missing transverse momentum. Distinctive selections are de fi ned with either no charged leptons (electrons or muons) in the fi nal state, or one charged lepton. The zero-lepton selection targets models in which the (b) over bar (1) is the lightest squark and decays via (b) over bar (1) -> b((chi) over bar1)(0), where (chi) over bar (0)(1) is the lightest neutralino. The one-lepton fi nal state targets models where bottom or top squarks are produced and can decay into multiple channels, (b) over bar (1) -> b((chi) over bar1)(0) and (b) over bar (1) -> b((chi) over bar1)(+/-), or (t) over bar (1) -> t((chi) over bar1)(0) and (t) over bar (1) -> b((chi) over bar1)(+/-), where (X) over bar (+/-)(1) is the lightest chargino and the mass difference m((chi) over bar1)(+/-) - m((chi) over bar1)(0) is set to 1 GeV. No excess above the expected Standard Model background is observed. Exclusion limits at 95% con fi dence level on the mass of third-generation squarks are derived in various supersymmetry-inspired simpli fi ed models.
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| 11. |
- Abulaiti, Yiming, et al.
(författare)
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Search for supersymmetry in final states with two same-sign or three leptons and jets using 36 fb(-1) of root&ITs&IT = 13 TeV &ITpp&IT collision data with the ATLAS detector
- 2017
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer. - 1126-6708 .- 1029-8479. ; :9
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Tidskriftsartikel (refereegranskat)abstract
- A search for strongly produced supersymmetric particles using signatures involving multiple energetic jets and either two isolated same-sign leptons (e or mu), or at least three isolated leptons, is presented. The analysis relies on the identification of b-jets and high missing transverse momentum to achieve good sensitivity. A data sample of proton-proton collisions at root s = 13 TeV recorded with the ATLAS detector at the Large Hadron Collider in 2015 and 2016, corresponding to a total integrated luminosity of 36.1 fb(-1), is used for the search. No significant excess over the Standard Model prediction is observed. The results are interpreted in several simplified supersymmetric models featuring R-parity conservation or R-parity violation, extending the exclusion limits from previous searches. In models considering gluino pair production, gluino masses are excluded up to 1.87 TeV at 95% confidence level. When bottom squarks are pair-produced and decay to a chargino and a top quark, models with bottom squark masses below 700 GeV and light neutralinos are excluded at 95% confidence level. In addition, model-independent limits are set on a possible contribution of new phenomena to the signal region yields.
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| 12. |
- Abulaiti, Yiming, et al.
(författare)
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Study of ordered hadron chains with the ATLAS detector
- 2017
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Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 96
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Tidskriftsartikel (refereegranskat)abstract
- The analysis of the momentum difference between charged hadrons in high-energy proton-proton collisions is performed in order to study coherent particle production. The observed correlation pattern agrees with a model of a helical QCD string fragmenting into a chain of ground-state hadrons. A threshold momentum difference in the production of adjacent pairs of charged hadrons is observed, in agreement with model predictions. The presence of low-mass hadron chains also explains the emergence of charge-combination-dependent two-particle correlations commonly attributed to Bose-Einstein interference. The data sample consists of 190 mu b(-1) of minimum-bias events collected with proton-proton collisions at a center-of-mass energy root s = 7 TeV in the early low-luminosity data taking with the ATLAS detector at the LHC.
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| 13. |
- Attauabi, Mohamed, et al.
(författare)
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Influence of Genetics, Immunity and the Microbiome on the Prognosis of Inflammatory Bowel Disease (IBD Prognosis Study) : the protocol for a Copenhagen IBD Inception Cohort Study
- 2022
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 12:6, s. e055779-e055779
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Inflammatory bowel diseases (IBD), encompassing Crohn's disease and ulcerative colitis, are chronic, inflammatory diseases of the gastrointestinal tract. We have initiated a Danish population-based inception cohort study aiming to investigate the underlying mechanisms for the heterogeneous course of IBD, including need for, and response to, treatment.Methods and analysis: IBD Prognosis Study is a prospective, population-based inception cohort study of unselected, newly diagnosed adult, adolescent and paediatric patients with IBD within the uptake area of Hvidovre University Hospital and Herlev University Hospital, Denmark, which covers approximately 1 050 000 inhabitants (~20% of the Danish population). The diagnosis of IBD will be according to the Porto diagnostic criteria in paediatric and adolescent patients or the Copenhagen diagnostic criteria in adult patients. All patients will be followed prospectively with regular clinical examinations including ileocolonoscopies, MRI of the small intestine, validated patient-reported measures and objective examinations with intestinal ultrasound. In addition, intestinal biopsies from ileocolonoscopies, stool, rectal swabs, saliva samples, swabs of the oral cavity and blood samples will be collected systematically for the analysis of biomarkers, microbiome and genetic profiles. Environmental factors and quality of life will be assessed using questionnaires and, when available, automatic registration of purchase data. The occurrence and course of extraintestinal manifestations will be evaluated by rheumatologists, dermatologists and dentists, and assessed by MR cholangiopancreatography, MR of the spine and sacroiliac joints, ultrasonography of peripheral joints and entheses, clinical oral examination, as well as panoramic radiograph of the jaws. Fibroscans and dual-energy X-ray absorptiometry scans will be performed to monitor occurrence and course of chronic liver diseases, osteopenia and osteoporosis.Ethics and dissemination: This study has been approved by Ethics Committee of the Capital Region of Denmark (approval number: H-20065831). Study results will be disseminated through publication in international scientific journals and presentation at (inter)national conferences.
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| 14. |
- Bang Madsen, Kathrine, et al.
(författare)
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In utero exposure to ADHD medication and long-term offspring outcomes
- 2023
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Ingår i: Molecular Psychiatry. - : Springer Nature. - 1359-4184 .- 1476-5578. ; 28:4, s. 1739-1746
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Tidskriftsartikel (refereegranskat)abstract
- Attention Deficit Hyperactivity Disorder (ADHD) medication is increasingly being used during pregnancy. Concerns have been raised as to whether ADHD medication has long-term adverse effects on the offspring. The authors investigated whether in utero exposure to ADHD medication was associated with adverse long-term neurodevelopmental and growth outcomes in offspring. The population-based cohort study in the Danish national registers included 1,068,073 liveborn singletons from 1998 to 2015 followed until any developmental diagnosis, death, emigration, or December 31, 2018. Children of mothers who continued ADHD medication (methylphenidate, amphetamine, dexamphetamine, lisdexamphetamine, modafinil, atomoxetine, clonidine) during pregnancy and children of mothers who discontinued ADHD medication before pregnancy were compared using Cox regression. Main outcomes were neurodevelopmental psychiatric disorders, impairments in vision or hearing, epilepsy, seizures, or growth impairment during childhood or adolescence. In total, 898 children were exposed to ADHD medication during pregnancy compared to 1270 children whose mothers discontinued ADHD medication before pregnancy. After adjustment for demographic and psychiatric characteristics of the mother, no increased risk of any offspring developmental disorders was found combined (aHR 0.97, 95% CI 0.81 to 1.17) or for separate subcategories. Similarly, no increased risk was found for any sub-categories of outcomes in the negative control or sibling controlled analyses. Neurodevelopment and growth in offspring do not differ based on antenatal exposure to ADHD medication. These findings provide reassurance for women with ADHD who depend on ADHD medication for daily functioning and who consider continuing medication in pregnancy.
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| 15. |
- Bang Madsen, Kathrine, et al.
(författare)
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Pregnancy and postpartum psychiatric episodes in fathers : A population-based study on treatment incidence and prevalence
- 2022
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Ingår i: Journal of Affective Disorders. - : Elsevier. - 0165-0327 .- 1573-2517. ; 296, s. 130-135
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundFor women, the perinatal period confers an increased risk of severe psychiatric disorders, but similar evidence for fathers is lacking. We examined rates of first-time and recurrent psychiatric disorders in men before and after becoming fathers.MethodsA descriptive prospective study design was applied using information from the Danish National registers. Perinatal psychiatric episodes were assessed as incidence of first-time and prevalence (including recurrence) of recorded in- or outpatient admissions for any mental disorder and redeemed prescriptions for psychotropic medication in fathers to children born from January 1, 1998 until December 31, 2015.ResultsWe identified 929,415 births and 543,555 unique fathers. Incidence and prevalence proportions for paternal psychiatric in- and outpatient episodes showed an increasing trend over the perinatal period and were marginally higher postpartum compared to pregnancy; e.g., median incidence proportion for inpatient treatment during pregnancy was 0.07 (95% CI: 0.04; 0.07) and 0.10 (95% CI: 0.08; 0.11) postpartum per 1000 births. No difference between the periods was found for incidence of prescriptions for psychotropic medication. Psychiatric disorders in expecting and new fathers were mainly treated in primary care with cumulative incidence of prescriptions for psychotropic medication of 14.56 per 1000 births during the first year of fatherhood.LimitationsWe only capture fathers who actively sought and received treatment, and we consequently underestimate milder psychiatric episodes in expecting and new fathers.ConclusionBecoming a father did not appear to trigger a substantially increased risk of severe psychiatric disorders, as it has been observed for new mothers.
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| 16. |
- Baturova, Maria A., et al.
(författare)
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Atrial fibrillation as a clinical characteristic of arrhythmogenic right ventricular cardiomyopathy : Experience from the Nordic ARVC Registry
- 2020
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Ingår i: International Journal of Cardiology. - : Elsevier BV. - 0167-5273 .- 1874-1754. ; 298, s. 39-43
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Tidskriftsartikel (refereegranskat)abstract
- Background: Recent studies in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients have drawn attention to atrial fibrillation (AF) as an arrhythmic manifestation of ARVC and as an indicator of atrial involvement in the disease progression. We aimed to assess the prevalence of AF in the Scandinavian cohort of ARVC patients and to evaluate its association with disease clinical manifestations. Methods: Study sample comprised of 293 definite ARVC patients by 2010 Task Force criteria (TFC2010) and 141 genotype-positive family members (total n = 434, 43% females, median age at ARVC diagnosis 41 years [interquartile range (IQR) 28–52 years]). ARVC diagnostic score was calculated as the sum of major (2 points) and minor (1 point) criteria in all categories of the TFC2010. Results: AF was diagnosed in 42 patients (10%): in 41 patients with definite ARVC diagnosis (14%) vs in one genotype-positive family member (1%), p < 0.001. The median age at AF onset was 51 (IQR 38–58) years. The prevalence of AF was related to the ARVC diagnostic score: it significantly increased starting with the diagnostic score 4 (2% in those with score 3 vs 13% in those with score 4, p = 0.023) and increased further with increased diagnostic score (Somer's d value is 0.074, p < 0.001). Conclusion: AF is seen in 14% of definite ARVC patients and is related to the severity of disease phenotype thus suggesting AF being an arrhythmic manifestation of this cardiomyopathy indicating atrial myocardial involvement in the disease progression.
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| 17. |
- Christensen, Alex Hørby, et al.
(författare)
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Complications of implantable cardioverter-defibrillator treatment in arrhythmogenic right ventricular cardiomyopathy
- 2022
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Ingår i: Europace. - : Oxford University Press (OUP). - 1099-5129 .- 1532-2092. ; 24:2, s. 306-312
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Tidskriftsartikel (refereegranskat)abstract
- Aims: Treatment with implantable cardioverter-defibrillators (ICD) is a cornerstone for prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy (ARVC). We aimed at describing the complications associated with ICD treatment in a multinational cohort with long-term follow-up. Methods and results: The Nordic ARVC registry was established in 2010 and encompasses a large multinational cohort of ARVC patients, including their clinical characteristics, treatment, and events during follow-up. We included 299 patients (66% males, median age 41 years). During a median follow-up of 10.6 years, 124 (41%) patients experienced appropriate ICD shock therapy, 28 (9%) experienced inappropriate shocks, 82 (27%) had a complication requiring surgery (mainly lead-related, n = 75), and 99 (33%) patients experienced the combined endpoint of either an inappropriate shock or a surgical complication. The crude rate of first inappropriate shock was 3.4% during the first year after implantation but decreased after the first year and plateaued over time. Contrary, the risk of a complication requiring surgery was 5.5% the first year and remained high throughout the study period. The combined risk of any complication was 7.9% the first year. In multivariate cox regression, presence of atrial fibrillation/flutter was a risk factor for inappropriate shock (P < 0.05), whereas sex, age at implant, and device type were not (all P > 0.05). Conclusion: Forty-one percent of ARVC patients treated with ICD experienced potentially life-saving ICD therapy during long-term follow-up. A third of the patients experienced a complication during follow-up with lead-related complications constituting the vast majority.
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| 18. |
- Christensen, Alex Hörby, et al.
(författare)
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Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.
- 2021
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Ingår i: Journal of medical genetics. - : BMJ PUBLISHING GROUP. - 1468-6244 .- 0022-2593.
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Tidskriftsartikel (refereegranskat)abstract
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. We aimed at studying the impact of the implicated gene(s) on the disease course.The Nordic ARVC Registry holds data on a multinational cohort of ARVC families. The effects of genotype on electrocardiographic features, imaging findings and clinical events were analysed.We evaluated 419 patients (55% men), with a mean follow-up of 11.2±7.4 years. A pathogenic desmosomal variant was identified in 62% of the 230 families: PKP2 in 41%, DSG2 in 13%, DSP in 7% and DSC2 in 3%. Reduced left ventricular ejection fraction (LVEF) ≤45% on cardiac MRI was more frequent among patients with DSC2/DSG2/DSP than PKP2 ARVC (27% vs 4%, p<0.01). In contrast, in Cox regression modelling of patients with definite ARVC, we found a higher risk of arrhythmias among PKP2 than DSC2/DSG2/DSP carriers: HR 0.25 (0.10-0.68, p<0.01) for atrial fibrillation/flutter, HR 0.67 (0.44-1.0, p=0.06) for ventricular arrhythmias and HR 0.63 (0.42-0.95, p<0.05) for any arrhythmia. Gene-negative patients had an intermediate risk (16%) of LVEF ≤45% and a risk of the combined arrhythmic endpoint comparable with DSC2/DSG2/DSP carriers. Male sex was a risk factor for both arrhythmias and reduced LVEF across all genotype groups (p<0.01).In this large cohort of ARVC families with long-term follow-up, we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or gene-negative carrier status, whereas reduced LVEF was mostly seen among DSC2/DSG2/DSP carriers. Male sex was associated with a more severe phenotype.
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| 19. |
- Christensen, Alex Horby, et al.
(författare)
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Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
- 2022
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Ingår i: Journal of Medical Genetics. - : BMJ PUBLISHING GROUP. - 0022-2593 .- 1468-6244. ; 59:9, s. 858-864
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Tidskriftsartikel (refereegranskat)abstract
- Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. We aimed at studying the impact of the implicated gene(s) on the disease course. Methods The Nordic ARVC Registry holds data on a multinational cohort of ARVC families. The effects of genotype on electrocardiographic features, imaging findings and clinical events were analysed. Results We evaluated 419 patients (55% men), with a mean follow-up of 11.2 +/- 7.4 years. A pathogenic desmosomal variant was identified in 62% of the 230 families: PKP2 in 41%, DSG2 in 13%, DSP in 7% and DSC2 in 3%. Reduced left ventricular ejection fraction (LVEF) <= 45% on cardiac MRI was more frequent among patients with DSC2/DSG2/DSP than PKP2 ARVC (27% vs 4%, p<0.01). In contrast, in Cox regression modelling of patients with definite ARVC, we found a higher risk of arrhythmias among PKP2 than DSC2/DSG2/DSP carriers: HR 0.25 (0.10-0.68, p<0.01) for atrial fibrillation/flutter, HR 0.67 (0.44-1.0, p=0.06) for ventricular arrhythmias and HR 0.63 (0.42-0.95, p<0.05) for any arrhythmia. Gene-negative patients had an intermediate risk (16%) of LVEF <= 45% and a risk of the combined arrhythmic endpoint comparable with DSC2/DSG2/DSP carriers. Male sex was a risk factor for both arrhythmias and reduced LVEF across all genotype groups (p<0.01). Conclusion In this large cohort of ARVC families with long-term follow-up, we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or gene-negative carrier status, whereas reduced LVEF was mostly seen among DSC2/DSG2/DSP carriers. Male sex was associated with a more severe phenotype.
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| 20. |
- Christiansen, Morten K, et al.
(författare)
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Incidence, Predictors, and Success of Ventricular Tachycardia Catheter Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (from the Nordic ARVC Registry).
- 2020
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Ingår i: The American journal of cardiology. - : Elsevier BV. - 1879-1913 .- 0002-9149. ; 125:5, s. 803-811
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Tidskriftsartikel (refereegranskat)abstract
- Catheter ablation may reduce ventricular tachycardia (VT) burden in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. However, little is known about factors predicting need for ablation. Therefore, we sought to investigate predictors and use of VT ablation and to evaluate the postprocedural outcome in ARVC patients. We studied 435 patients from the Nordic ARVC registry including 220 probands with definite ARVC according to the 2010 task force criteria and 215 mutation-carrying relatives identified through cascade screening. Patients were followed until first-time VT ablation, death, heart transplantation, or January 1st 2018. Additionally, patients undergoing VT ablation were further followed from the time of ablation for recurrent ventricular arrhythmias. The cumulative use of VT ablation was 4% (95% confidence interval [CI] 3% to 6%) and 11% (95% CI 8% to 15%) after 1 and 10 years. All procedures were performed in probands in whom cumulative use was 8% (95% CI 5% to 12%) and 20% (95% CI 15% to 26%). In adjusted analyses among probands, only young age predicted ablation. In patients undergoing ablation, risk of recurrent arrhythmias was 59% (95% CI 44% to 71%) and 74% (95% CI 59% to 84%) 1 and 5 years after the procedure. Despite high recurrence rates, the burden of ventricular arrhythmias was reduced after ablation (p=0.0042). Young age, use of several antiarrhythmic drugs and inducibility to VT after ablation were associated with an unfavorable outcome. In conclusion, twenty percent of ARVC probands developed a clinical indication for VT ablation within 10 years whereas mutation-carrying relatives were without such need. Although the burden of ventricular arrhythmias decreased after ablation, risk of recurrence was substantial.
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| 21. |
- Gillberg, Linn, et al.
(författare)
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Does DNA Methylation of PPARGC1A Influence Insulin Action in First Degree Relatives of Patients with Type 2 Diabetes?
- 2013
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:3
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Tidskriftsartikel (refereegranskat)abstract
- Epigenetics may play a role in the pathophysiology of type 2 diabetes (T2D), and increased DNA methylation of the metabolic master regulator peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PPARGC1A) has been reported in muscle and pancreatic islets from T2D patients and in muscle from individuals at risk of T2D. This study aimed to investigate DNA promoter methylation and gene expression of PPARGC1A in skeletal muscle from first degree relatives (FDR) of T2D patients, and to determine the association with insulin action as well as the influence of family relation. We included 124 Danish FDR of T2D patients from 46 different families. Skeletal muscle biopsies were excised from vastus lateralis and insulin action was assessed by oral glucose tolerance tests. DNA methylation and mRNA expression levels were measured using bisulfite sequencing and quantitative real-time PCR, respectively. The average PPARGC1A methylation at four CpG sites situated 867-624 bp from the transcription start was associated with whole-body insulin sensitivity in a paradoxical positive manner (beta = 0.12, P = 0.03), supported by a borderline significant inverse correlation with fasting insulin levels (beta = -0.88, P = 0.06). Excluding individuals with prediabetes and overt diabetes did not affect the overall result. DNA promoter methylation was not associated with PPARGC1A gene expression. The familiality estimate of PPARGC1A gene expression was high (h(2) = 79 +/- 27% (h(2) +/- SE), P = 0.002), suggesting genetic regulation to play a role. No significant effect of familiality on DNA methylation was found. Taken together, increased DNA methylation of the PPARGC1A promoter is unlikely to play a major causal role for the development of insulin resistance in FDR of patients with T2D.
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| 22. |
- Graae, Anne-Sofie, et al.
(författare)
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ADAMTS9 Regulates Skeletal Muscle Insulin Sensitivity Through Extracellular Matrix Alterations
- 2019
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Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 68:3, s. 502-514
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Tidskriftsartikel (refereegranskat)abstract
- The ADAMTS9 rs4607103 C allele is one of the few gene variants proposed to increase the risk of type 2 diabetes through an impairment of insulin sensitivity. We show that the variant is associated with increased expression of the secreted ADAMTS9 and decreased insulin sensitivity and signaling in human skeletal muscle. In line with this, mice lacking Adamts9 selectively in skeletal muscle have improved insulin sensitivity. The molecular link between ADAMTS9 and insulin signaling was characterized further in a model where ADAMTS9 was overexpressed in skeletal muscle. This selective over expression resulted in decreased insulin signaling presumably mediated through alterations of the integrin 131 signaling pathway and disruption of the intracellular cytoskeletal organization. Furthermore, this led to impaired mitochondria! function in mouse muscle-an observation found to be of translational character because humans carrying the ADAMTS9 risk allele have decreased expression of mitochondrial markers. Finally, we found that the link between ADAMTS9 overexpression and impaired insulin signaling could be due to accumulation of harmful lipid intermediates. Our findings contribute to the understanding of the molecular mechanisms underlying insulin resistance and type 2 diabetes and point to inhibition of ADAMTS9 as a potential novel mode of treating insulin resistance.
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| 23. |
- Hansen, Lea B.S., et al.
(författare)
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A low-gluten diet induces changes in the intestinal microbiome of healthy Danish adults
- 2018
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723 .- 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- © 2018, The Author(s). Adherence to a low-gluten diet has become increasingly common in parts of the general population. However, the effects of reducing gluten-rich food items including wheat, barley and rye cereals in healthy adults are unclear. Here, we undertook a randomised, controlled, cross-over trial involving 60 middle-aged Danish adults without known disorders with two 8-week interventions comparing a low-gluten diet (2 g gluten per day) and a high-gluten diet (18 g gluten per day), separated by a washout period of at least six weeks with habitual diet (12 g gluten per day). We find that, in comparison with a high-gluten diet, a low-gluten diet induces moderate changes in the intestinal microbiome, reduces fasting and postprandial hydrogen exhalation, and leads to improvements in self-reported bloating. These observations suggest that most of the effects of a low-gluten diet in non-coeliac adults may be driven by qualitative changes in dietary fibres.
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| 24. |
- Jahangiri, Amita, et al.
(författare)
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Hydrophilization of bixin by lipase-catalyzed transesterification with sorbitol
- 2018
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Ingår i: Food Chemistry. - : Elsevier BV. - 0308-8146. ; 268, s. 203-209
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Tidskriftsartikel (refereegranskat)abstract
- Bixin is one of the most used yellow-orange food colorants in the food industry. The polyene chain of bixin makes it highly hydrophobic and less suitable for water-based food formulations. Lipase-catalyzed reactions of bixin with sorbitol were studied to synthesize a new derivative of bixin with potential hydrophilic properties. Interestingly, we show that the lipase-catalyzed reaction of bixin leads to a transesterification reaction and formation of a transesterified product, sorbitol ester of norbixin (SEN). The reaction efficiency was optimized with various immobilized lipases at different water activity levels in the organic solvent, 2-methyl-2-butanol. Among the examined lipases, immobilized Candida antarctica lipase B (Novozyme 435) provided the highest reaction yield at a water activity close to zero. Tetrahydrofuran (THF) was used as co-solvent to improve bixin solubility. The optimization of the reaction conditions with 20% THF lead to a total reaction yield of 50% of SEN.
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| 25. |
- Milstead, David A., et al.
(författare)
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Search for Heavy Higgs Bosons A /H Decaying to a Top Quark Pair in pp Collisions at s =8 TeV with the ATLAS Detector
- 2017
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Ingår i: Physical Review Letters. - : American Physical Society. - 1079-7114 .- 0031-9007. ; 119:19
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Tidskriftsartikel (refereegranskat)abstract
- A search for heavy pseudoscalar (A) and scalar (H) Higgs bosons decaying into a top quark pair (tt) has been performed with 20.3 fb-1 of proton-proton collision data collected by the ATLAS experiment at the Large Hadron Collider at a center-of-mass energy s=8 TeV. Interference effects between the signal process and standard model tt production, which are expected to distort the signal shape from a single peak to a peak-dip structure, are taken into account. No significant deviation from the standard model prediction is observed in the tt invariant mass spectrum in final states with an electron or muon, large missing transverse momentum, and at least four jets. The results are interpreted within the context of a type-II two-Higgs-doublet model. Exclusion limits on the signal strength are derived as a function of the mass mA/H and the ratio of the vacuum expectation values of the two Higgs fields, tanβ, for mA/H>500 GeV. © 2017 CERN.
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| 26. |
- Milstead, David A., et al.
(författare)
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Search for the Dimuon Decay of the Higgs Boson in pp Collisions at s =13 TeV with the ATLAS Detector
- 2017
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Ingår i: Physical Review Letters. - : American Physical Society. - 1079-7114 .- 0031-9007. ; 119:5
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Tidskriftsartikel (refereegranskat)abstract
- A search for the dimuon decay of the Higgs boson was performed using data corresponding to an integrated luminosity of 36.1 fb-1 collected with the ATLAS detector in pp collisions at s=13 TeV at the Large Hadron Collider. No significant excess is observed above the expected background. The observed (expected) upper limit on the cross section times branching ratio is 3.0 (3.1) times the Standard Model prediction at the 95% confidence level for a Higgs boson mass of 125 GeV. When combined with the pp collision data at s=7 TeV and s=8 TeV, the observed (expected) upper limit is 2.8 (2.9) times the Standard Model prediction. © 2017 CERN.
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| 27. |
- Milstead, David A., et al.
(författare)
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Study of the material of the ATLAS inner detector for Run 2 of the LHC
- 2017
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Ingår i: Journal of Instrumentation. - : Institute of Physics (IOP). - 1748-0221. ; 12:12
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS inner detector comprises three different sub-detectors: the pixel detector, the silicon strip tracker, and the transition-radiation drift-tube tracker. The Insertable B-Layer, a new innermost pixel layer, was installed during the shutdown period in 2014, together with modifications to the layout of the cables and support structures of the existing pixel detector. The material in the inner detector is studied with several methods, using a low-luminosity s=13 TeV pp collision sample corresponding to around 2.0 nb-1 collected in 2015 with the ATLAS experiment at the LHC. In this paper, the material within the innermost barrel region is studied using reconstructed hadronic interaction and photon conversion vertices. For the forward rapidity region, the material is probed by a measurement of the efficiency with which single tracks reconstructed from pixel detector hits alone can be extended with hits on the track in the strip layers. The results of these studies have been taken into account in an improved description of the material in the ATLAS inner detector simulation, resulting in a reduction in the uncertainties associated with the charged-particle reconstruction efficiency determined from simulation. © 2017 CERN.
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| 28. |
- Munk-Olsen, Trine, et al.
(författare)
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Postpartum depression : a developed and validated model predicting individual risk in new mothers
- 2022
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Ingår i: Translational Psychiatry. - : Springer Nature. - 2158-3188. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Postpartum depression (PPD) is a serious condition associated with potentially tragic outcomes, and in an ideal world PPDs should be prevented. Risk prediction models have been developed in psychiatry estimating an individual's probability of developing a specific condition, and recently a few models have also emerged within the field of PPD research, although none are implemented in clinical care. For the present study we aimed to develop and validate a prediction model to assess individualized risk of PPD and provide a tentative template for individualized risk calculation offering opportunities for additional external validation of this tool. Danish population registers served as our data sources and PPD was defined as recorded contact to a psychiatric treatment facility (ICD-10 code DF32-33) or redeemed antidepressant prescriptions (ATC code N06A), resulting in a sample of 6,402 PPD cases (development sample) and 2,379 (validation sample). Candidate predictors covered background information including cohabitating status, age, education, and previous psychiatric episodes in index mother (Core model), additional variables related to pregnancy and childbirth (Extended model), and further health information about the mother and her family (Extended+ model). Results indicated our recalibrated Extended model with 14 variables achieved highest performance with satisfying calibration and discrimination. Previous psychiatric history, maternal age, low education, and hyperemesis gravidarum were the most important predictors. Moving forward, external validation of the model represents the next step, while considering who will benefit from preventive PPD interventions, as well as considering potential consequences from false positive and negative test results, defined through different threshold values.
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| 29. |
- Platonov, Pyotr G., et al.
(författare)
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Pregnancies, ventricular arrhythmias, and substrate progression in women with arrhythmogenic right ventricular cardiomyopathy in the Nordic ARVC Registry
- 2020
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Ingår i: Europace. - : Oxford University Press. - 1099-5129 .- 1532-2092. ; 23:12, s. 1873-1879
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: Women with arrhythmogenic right ventricular cardiomyopathy (ARVC) are at relatively lower risk of ventricular arrhythmias (VAs) than men, but the physical burden associated with pregnancy on VA risk remains insufficiently studied. We aimed to assess the risk of VA in relation to pregnancies in women with ARVC.METHODS AND RESULTS: We included 199 females with definite ARVC (n = 121) and mutation-positive family members without ascertained ARVC diagnosis (n = 78), of whom 120 had at least one childbirth. Ventricular arrhythmia-free survival after the latest childbirth was compared between women with one (n = 20), two (n = 67), and three or more (n = 37) childbirths. Cumulative probability of VA for each pregnancy (n = 261) was assessed from conception through 2 years after childbirth and compared between those pregnancies that occurred before (n = 191) or after (n = 19) ARVC diagnosis and in mutation-positive family members (n = 51). The nulliparous women had lower median age at ARVC diagnosis (38 vs. 42 years, P < 0.001) and first VA (22 vs. 41 years, P < 0.001). Ventricular arrhythmia-free survival after the latest childbirth was not related to the number of pregnancies. No pregnancy-related VA was reported among the family members. Women who gave birth after ARVC diagnosis had elevated risk of VA postpartum (hazard ratio 13.74, 95% confidence interval 2.9-63, P = 0.001), though only two events occurred during pregnancies.CONCLUSION: In women with ARVC, pregnancy was uneventful for the overwhelming majority and the number of prior completed pregnancies was not associated with VA risk. Pregnancy-related VA was primarily related to the phenotypical severity rather than pregnancy itself.
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| 30. |
- Platonov, Pyotr G., et al.
(författare)
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Primary Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillator Therapy in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy
- 2019
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Ingår i: American Journal of Cardiology. - : EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC. - 0002-9149 .- 1879-1913. ; 123:7, s. 1156-1162
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Tidskriftsartikel (refereegranskat)abstract
- Implantable cardioverter-defibrillator (ICD) therapy remains a corner stone of sudden cardiac death (SCD) prevention in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). We aimed to assess predictors of appropriate ICD therapies in the Scandinavian cohort of ARVC patients who received ICD for primary prevention of SCD. Study group comprised of 79 definite ARVC patients by 2010 Task Force criteria (60% male, age at ICD implant 39 +/- 14 years) who were enrolled in the Nordic ARVC Registry and received an ICD for primary SCD prevention. The primary end point of appropriate ICD shock or death from any cause was assessed and compared with 137 definite ARVC patients who received ICD for secondary SCD prevention (74% male, age at ICD implant 42 +/- 15 years). In the study group, 38% were amp;lt;= 35 years of age at baseline, 25% had non-sustained ventricular tachycardia, and 29% had syncope at baseline. Major repolarization abnormality (hazard ratio = 4.00, 95% confidence interval 1.30 to 12.30, p = 0.015) and age amp;lt;= 35 years (hazard ratio = 4.21, 95% confidence interval 1.49 to 11.85, p = 0.001) independently predicted the primary end point. The outcome did not differ between the primary prevention patients with either of these risk factors and the secondary prevention cohort (2% to 4% annual event rate) whereas patients without risk factors did not have any appropriate ICD shocks during follow-up. In conclusion, young age at ARVC diagnosis and major repolarization abnormality independently predict ICD shocks or death in the primary prevention ICD recipients and associated with the event rate similar to the one observed in the secondary prevention cohort. Our data indicate the benefit of ICD for primary prevention in patients with any of these risk factors. (C) 2019 Elsevier Inc. All rights reserved.
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| 31. |
- Stokke, Mathis K, et al.
(författare)
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Absence of ECG task force criteria does not rule out structural changes in genotype positive ARVC patients
- 2020
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Ingår i: International Journal of Cardiology. - : Elsevier. - 0167-5273 .- 1874-1754. ; 317, s. 152-158
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: In Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), electrophysiological pathology has been claimed to precede morphological and functional pathology. Accordingly, an ECG without ARVC markers should be rare in ARVC patients with pathology identified by cardiac imaging. We quantified the prevalence of ARVC patients with evidence of structural disease, yet without ECG Task Force Criteria (TFC).METHODS AND RESULTS: We included 182 probands and family members with ARVC-associated mutations (40 ± 17 years, 50% women, 73% PKP2 mutations) from the Nordic ARVC Registry in a cross-sectional analysis. For echocardiography and cardiac MR (CMR), we differentiated between "abnormalities" and TFC. "Abnormalities" were defined as RV functional or structural measures outside TFC reference values, without combinations required to fulfill TFC. ECG TFC were used as defined, as these are not composite parameters. We found that only 4% of patients with ARVC fulfilled echocardiographic TFC without any ECG TFC. However, importantly, 38% of patients had imaging abnormalities without any ECG TFC. These results were supported by CMR data from a subset of 51 patients: 16% fulfilled CMR TFC without fulfilling ECG TFC, while 24% had CMR abnormalities without any ECG TFC. In a multivariate analysis, echocardiographic TFC were associated with arrhythmic events.CONCLUSION: More than one third of ARVC genotype positive patients had subtle imaging abnormalities without fulfilling ECG TFC. Although most patients will have both imaging and ECG abnormalities, structural abnormalities in ARVC genotype positive patients cannot be ruled out by the absence of ECG TFC.
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| 32. |
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| 33. |
- Svensson, Anneli, 1972-, et al.
(författare)
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Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers
- 2021
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Ingår i: Cardiology. - : S. Karger. - 0008-6312 .- 1421-9751. ; 146:6, s. 763-771
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Whether detailed genetic information contributes to risk stratification of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) remains uncertain. Pathogenic genetic variants in some genes seem to carry a higher risk for arrhythmia and earlier disease onset than others, but comparisons between variants in the same gene have not been done. Combined Annotation Dependent Depletion (CADD) score is a bioinformatics tool that measures the pathogenicity of each genetic variant. We hypothesized that a higher CADD score is associated with arrhythmic events and earlier age at ARVC manifestations in individuals carrying pathogenic or likely pathogenic genetic variants in plakophilin-2 (PKP2).METHODS: CADD scores were calculated using the data from pooled Scandinavian and North American ARVC cohorts, and their association with cardiac events defined as ventricular tachycardia/ventricular fibrillation (VT/VF) or syncope and age at definite ARVC diagnosis were assessed.RESULTS: In total, 33 unique genetic variants were reported in 179 patients (90 males, 71 probands, 96 with definite ARVC diagnosis at a median age of 35 years). Cardiac events were reported in 76 individuals (43%), of whom 53 had sustained VT/VF (35%). The CADD score was neither associated with age at cardiac events (HR 1.002, 95% CI: 0.953-1.054, p = 0.933) nor with age at definite ARVC diagnosis (HR 0.992, 95% CI: 0.947-1.039, p = 0.731).CONCLUSION: No correlation was found between CADD scores and clinical manifestations of ARVC, indicating that the score has no additional risk stratification value among carriers of pathogenic or likely pathogenic PKP2 genetic variants.
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| 34. |
- Tønnesen, Hanne, et al.
(författare)
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Smoking cessation intervention in emergency neurology - introduction of a new practice
- 2012
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Ingår i: Clinical Health Promotion. - 2226-5864. ; 2:2, s. 64-69
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Emergency neurological patients are rarely given opportunities for smoking and alcohol intervention. How-ever, both are relevant in the acute phase as well as in future rehabilitation.Objectives The aim of this study was primarily to illustrate the implementation of motivational counselling in an acute neurological department and also to predict factors influencing this motivation.MethodsDuring a four-month period, 100 smoking emergency patients, including 18 patients with hazardously drinking patterns, were admitted with acute neurological illness, offered behavioural counselling before discharge, participated in a six week hospital-based smoking cessation or alcohol intervention programme, and followed-up after six months.ResultsOf the 100 patients studied, 87 accepted counselling regarding smoking and 16 patients received counselling for both smoking and alcohol. The younger patients had the highest level of motivation. Sixty (69%) patients were con- tactable at follow-up; of these, 18 patients had continuously quit smoking for six months and the other 15 patients had ceased or reduced their smoking habits. The followed-up group included only 6 (38%) with hazardous drinking patterns. ConclusionThe majority of smokers admitted due to emergency neurological illness accepted an offer for motivational counselling followed by a six week smoking cessation programme. The results indicated that this counselling led a signifi-cant proportion of the patients to cease or reduce their smoking habits.
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