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TL;DR: In this paper, the authors compared two treatment strategies in patients with atrial fibrillation (AF): rhythm control (restoration and maintenance of sinus rhythm) and rate control (pharmacologic or invasive rate-control and anticoagulation).
852 citations
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TL;DR: In patients with pulmonary embolism at intermediate risk, a standardized USAT regimen was superior to anticoagulation with heparin alone in reversing RV dilatation at 24 hours, without an increase in bleeding complications.
Abstract: Background—In patients with acute pulmonary embolism, systemic thrombolysis improves right ventricular (RV) dilatation, is associated with major bleeding, and is withheld in many patients at risk. This multicenter randomized, controlled trial investigated whether ultrasound-assisted catheter-directed thrombolysis (USAT) is superior to anticoagulation alone in the reversal of RV dilatation in intermediate-risk patients. Methods and Results—Fifty-nine patients (63±14 years) with acute main or lower lobe pulmonary embolism and echocardiographic RV to left ventricular dimension (RV/LV) ratio ≥1.0 were randomized to receive unfractionated heparin and an USAT regimen of 10 to 20 mg recombinant tissue plasminogen activator over 15 hours (n=30; USAT group) or unfractionated heparin alone (n=29; heparin group). Primary outcome was the difference in the RV/LV ratio from baseline to 24 hours. Safety outcomes included death, major and minor bleeding, and recurrent venous thromboembolism at 90 days. In the USAT group,...
735 citations
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TL;DR: The extent of ST segment elevation resolution conveys useful early information about outcome in an individual patient after acute myocardial infarction.
459 citations
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TL;DR: For the determination of 18 antibiotics in water samples down to the lower ng/l range, an analytical multi method is presented and mean recovery rates were in excess of 70%, however, with one exception and a quantitation limit was set.
386 citations
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Boston Children's Hospital1, University of Southern Denmark2, University of Tübingen3, University of Pavia4, University of Copenhagen5, Lyon College6, French Institute of Health and Medical Research7, HCL Technologies8, Aix-Marseille University9, University of Paris10, Paris Diderot University11, University of Hamburg12, Utrecht University13, Erasmus University Medical Center14, Mayo Clinic15, University of Genoa16, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico17, University of Michigan18, Université libre de Bruxelles19, University of Kiel20, Detmold21, Aarhus University Hospital22, University Hospital Heidelberg23, University of Tartu24, University of Colorado Denver25, Centre Hospitalier de Luxembourg26, Cairo University27, Ghent University Hospital28, Katholieke Universiteit Leuven29, University of Antwerp30, Leipzig University31, Children's Hospital of Philadelphia32
TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Abstract: Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells—together with data from the literature—suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.
377 citations
Authors
Showing all 1494 results
Name | H-index | Papers | Citations |
---|---|---|---|
Stephan Gielen | 56 | 129 | 31355 |
Ralf Zahn | 46 | 310 | 8444 |
Peter Bramlage | 44 | 438 | 7364 |
Bertrand Matthäus | 40 | 219 | 5767 |
Ulrich Tebbe | 38 | 216 | 7552 |
Karl-Dietrich Sievert | 36 | 212 | 5719 |
Wolfgang Scheppach | 36 | 103 | 5418 |
Christian Zörb | 35 | 106 | 4001 |
Klaus F. Helm | 31 | 159 | 3609 |
Karl-Ludwig Neuhaus | 29 | 56 | 3733 |
Torsten Hansen | 29 | 96 | 2512 |
J. A. Sturm | 23 | 67 | 2612 |
Johannes Reisch | 22 | 367 | 2691 |
Andreas Holstein | 21 | 59 | 1864 |
Heinrich Kasper | 20 | 30 | 1832 |