53 research outputs found
Dabigatran use in Danish atrial fibrillation patients in 2011: a nationwide study
OBJECTIVE: Dabigatran was recently approved for anticoagulation in patients with atrial fibrillation (AF); data regarding real-world use, comparative effectiveness and safety are sparse. DESIGN: Pharmacoepidemiological cohort study. METHODS/SETTINGS: From nationwide registers, we identified patients with an in-hospital or outpatient-clinic AF diagnosis who claimed a prescription of dabigatran 110 or 150 mg, or vitamin K antagonist (VKA), between 22 August and 31 December 2011. HRs of thromboembolic events (ischaemic stroke, transitory ischaemic attack and peripheral artery embolism) and bleedings were estimated using Cox regression analyses in all patients and stratified by previous VKA use. RESULTS: Overall, 1612 (3.1%) and 1114 (2.1%) patients claimed a prescription of dabigatran 110 and 150 mg, and 49640 (94.8%) of VKA. Patients treated with dabigatran 150 mg were younger with less comorbidity than those treated with dabigatran 110 mg and VKA, as were VKA naïve patients compared with previous VKA users. Recommendations set by the European Medicine Agency (EMA) for dabigatran were met in 90.3% and 55.5% of patients treated with 110 and 150 mg. Patients treated with 150 mg dabigatran, who did not fulfil the recommendations by EMA, were >80 years, patients with liver or kidney disease, patients with previous bleeding. Compared with VKA, the thromboembolic risk associated with dabigatran 110 and 150 mg was HR 3.52 (1.40 to 8.84) and 5.79 (1.81 to 18.56) in previous VKA users, and HR 0.95(0.47 to 1.91) and 1.14(0.60 to 2.16) in VKA naïve patients. Bleeding risk was increased in previous VKA users receiving dabigatran 110 mg, but not in patients with 150 mg dabigatran, nor in the VKA naïve users. CONCLUSIONS: Deviations from the recommended use of dabigatran were frequent among patients treated with 150 mg. With cautious interpretation, dabigatran use in VKA naïve patients seems safe. Increased risk of thromboembolism and bleeding with dabigatran among previous VKA users was unexpected and may reflect patient selection and ‘drug switching’ practices
An integrated diagnosis strategy for congenital myopathies
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor) mutations in six patients and NEB (nebulin) mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity
withdrawn 2017 hrs ehra ecas aphrs solaece expert consensus statement on catheter and surgical ablation of atrial fibrillation
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Konjenital miyastenik sendromlarda elektrofizyolojik özellikler
Introduction: Congenital myasthenic syndromes are a group of hereditary neuromuscular junction diseases, usually present in infancy or childhood period, caused by defects of presynaptic, synaptic or postsynaptic area. In this trial, evaluating electrophysiologic properties of congenital myasthenic syndromes and determining the role of electrophysiologic characteristics for distinction of subgroups of congenital myasthenic syndromes are aimed. Material and Method: Twelve cases which applied to Ege University Department of Neurology, child neurology unit were received to trial. Cases were evaluated according to clinical and electrophysiologic properties. Supramaximal single stimulation, 1-3 Hz repetative stimulation and single fiber electromyography (EMG) methods were carried out. Results: In all of cases, phase number and wideness of motor responses increased after single supramaximal stimulation. 1-3 Hz repetetive stimulation was applied to all of cases, in 8 of cases, decremental responses were established. Single fiber EMG was carried out for 9 of cases, in all of them increased jitter and/or block was determined. In all of cases, abnormalities were determined by repetative stimulation and/or single fiber EMG. Two cases presented motor response instability with single supramaximal stimulation, by evaluation of clinical and electrophysiologic properties of this cases, diagnosis of slow channel disease considered. Conclusion: Easily applied, simple electrophysiologic methods are considered as assistant to diagnosis of subgroups of congenital myasthenic syndromes.Giris: Konjenital miyastenik sendromlar genellikle infantil yada çocukluk çağında baslayan, presinaptik, sinaptik veya postsinaptik alandaki defekt sonucu ortaya çıkan bir grup herediter nöromuskuler bileske hastalıklarıdır. Bu çalısmada, konjenital miyastenik sendromlarda elektrofizyolojik özelliklerin değerlendirilmesi ve konjenital miyasyenik sendromların alt gruplarını ayırt etmede rollerinin ortaya konması amaçlandı. Gereç ve Yöntem: Çalısmaya Ege Üniversitesi Tıp Fakültesi (EÜTF) Nöroloji kliniği çocuk nörolojisi ünitesine basvurmus 12 olgu alındı. Olgular klinik ve elektrofizyolojik özellikler yönünden değerlendirildi. Olgulara supramaksimal tek elektrik uyarımı, 1-3 Hz frekansında ardısık uyarım ve tek lif elektromiyogramı(EMG) yöntemleri uygulandı. Bulgular: Olguların hepsinde tek supramaksimal uyarım ile elde edilen motor yanıtın faz sayısında ve genliğinde artıs saptandı. Bütün olgulara 1-3 Hz frekansında ardısık uyarım uygulandı, 8 olguda dekremental yanıt saptandı. Dokuz olguya istemli tek lif EMG uygulandı, hepsinde jitter artısı ve/veya blok saptandı. Olguların hepsinde ardısık uyarım ve/veya tek lif EMG ile anormallik belirlendi. ?ki olguda tek supramaksimal uyarım ile motor yanıtta instabilite saptandı, bu olguların klinik ve elektrofizyolojik özellikleri değerlendirildiğinde yavas kanal hastalığı tanısı düsünüldü. Sonuç: Uygulaması kolay, basit elektrofizyolojik yöntemlerin konjenital miyastenik sendromların alt gruplarının tanısında yardımcı olabileceği düsünüldü
Lipodystrophy and muscle hypertrophy
23rd International Annual Congress of the World-Muscle-Society (WMS) -- OCT 02-06, 2018 -- Mendoza, ARGENTINAWOS: 000449126600370World Muscle So
The clinical and muscle MRI analysis of centronuclear myopathies
16th International Congress of the World-Muscle-Society -- OCT 18-22, 2011 -- Algarve, PORTUGALWOS: 000295955900182World Muscle So
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