Natural history of cardiac involvement in myotonic dystrophy type 1 - Emphasis on the need for lifelong follow-up.

Background: Cardiac involvement represents a major cause of morbidity and mortality in patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death (SCD) is a central part of patient care. We investigated the natural history of cardiac involvement in patients with DM1 to provide an evidence-based foundation for adjustment of follow-up protocols.

Methods: Patients with genetically confirmed DM1 were identified.

Real-world data on the incidence, mortality, and cost of ischaemic stroke and major bleeding events among non-valvular atrial fibrillation patients in England.

Rationale, Aims, And Objectives: Several novel oral anticoagulants (NOACs) are licensed for atrial fibrillation (AF) treatment in the United Kingdom. We describe the incidence and mortality from ischaemic stroke and major bleeding in non-valvular atrial fibrillation (NVAF) patients in England, including treatment patterns before/following introduction of NOACs, healthcare resource utilization (HRU), and costs post-onset of these events.

Method: Data were extracted from the UK Clinical Practice Research Datalink linked to Hospital Episode Statistics secondary care and Office for National Statistics mortality data.

Congenital myopathies are mainly associated with a mild cardiac phenotype.

Background: To evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes.

Methods: We evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events.

Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.

Objectives: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT.

[Interaction of opioid analgesics at the level of biotransformation].

Opioids are an important component of the drug treatment of patients with acute and chronic pain. They differ in effectiveness, side effect profile and the risk of interactions. In this article the pharmacokinetic mechanisms of drug-drug interactions at the level of biotransformation are described and the clinical consequences which can arise are discussed.

OpenVigil FDA - Inspection of U.S. American Adverse Drug Events Pharmacovigilance Data and Novel Clinical Applications.

Pharmacovigilance contributes to health care. However, direct access to the underlying data for academic institutions and individual physicians or pharmacists is intricate, and easily employable analysis modes for everyday clinical situations are missing. This underlines the need for a tool to bring pharmacovigilance to the clinics.

Population prevalence of Down's syndrome in the United Kingdom.

Background: Aim was to estimate the age and sex-stratified prevalence of Down's syndrome (DS) in the United Kingdom (UK) general population using a large primary care database.

Method: Data source was the Clinical Practice Research Datalink. We divided the number of individuals with a record of DS present on 01/07/2014 by the total number of individuals, and computed Wilson's confidence intervals.

Morbidity and medication in a large population of individuals with Down syndrome compared to the general population.

Aim: The aim of this study was to describe the incidence of morbidities and the prevalence of medical prescriptions in a large Down syndrome population.

Method: A retrospective cohort study was carried out using the UK Clinical Practice Research Datalink from 1 January 2004 to 31 December 2013. We matched individuals with Down syndrome to randomly selected control participants by practice site, sex, birth year, and recording period.

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.

Background: Centronuclear myopathy (CNM) is one of four main subtypes of congenital myopathy. X-linked myotubular myopathy (XLMTM) is considered one of the most severe forms, but survivors past infancy have been described. However, detailed information on XLMTM phenotypes in patients who survive infancy is scarce.

Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study.

Aim: To assess the degree and progression of cardiac involvement in patients with limb-girdle type 2 (LGMD2) and Becker muscular dystrophies (BMD).

Methods: A follow-up study of 100 LGMD2 (types A-L) and 30 BMD patients assessed by electrocardiogram (ECG) and echocardiography, supplemented by Holter-monitoring at follow-up.

Results: After a median of 8.

Incidence of giant cell arteritis and characteristics of patients: data-driven analysis of comorbidities.

Objective: To establish the incidence of giant cell arteritis (GCA), cumulative use of prednisolone, and comorbidities most associated with GCA.

Methods: The data source was the UK Clinical Practice Research Datalink. Selection criteria included ≥1 record of a diagnostic term for GCA between January 1, 2000 and December 31, 2011, age ≥50 years, and ≥1 prescription of oral or systemic corticosteroid.

Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study.

Background: Myotonic dystrophy type 1 (DM1) is associated with increased cardiac morbidity and mortality. Therefore, assessment of cardiac involvement and risk stratification for sudden cardiac death is crucial. Nevertheless, optimal screening-procedures are not clearly defined.

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

Aims: To quantify the association between myotonic dystrophy (DM) and cardiac disease in a nationwide cohort.

Methods And Results: We identified a nationwide cohort of 1146 DM patients (period 1977-2011) using the National Patient Registry (NPR) and a subcohort of 485 patients who had undergone genetic testing for DM1. Information on incident cardiac diseases was obtained from the NPR.

High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: a cross-sectional study.

Background: Patients with myotonic dystrophy type 1 (DM1) have a three-fold higher risk of sudden cardiac death (SCD) than age-matched healthy controls. Despite numerous attempts to define the cardiac phenotype and natural history, existing literature suffers from low power, selection-bias and lack of controls. Thus, the optimal strategy for assessing cardiac involvement in DM1 is unclear.

A compilation of research working groups on drug utilisation across Europe.

Background: The assessment of the benefit-risk of medicines needs careful consideration concerning their patterns of utilization. Systems for the monitoring of medicines consumption have been established in many European countries, and several international groups have identified and described them. No other compilation of European working groups has been published.

Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy.

Objectives: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD).

Materials And Methods: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical history, ptosis, ophthalmoplegia, facial and limb strength, and swallowing capability.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.

Excess risk of hip fractures attributable to the use of antidepressants in five European countries and the USA.

Summary: The association between antidepressant use and hip fracture remains unclear. We conducted a systematic review to estimate Population Attributable Risks (PAR) for France, Germany, Italy, Spain, UK, and the USA. We report a heterogeneous prevalence of antidepressant use and related PARs, both lowest for Italy and highest for the USA.

Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects.

Aims: Mutations in the Lamin A/C gene may cause atrioventricular block, supraventricular arrhythmias, ventricular arrhythmias (VA), and dilated cardiomyopathy. We aimed to explore the predictors and the mechanisms of VA in Lamin A/C mutation-positive subjects.

Methods And Results: We included 41 Lamin A/C mutation-positive subjects.

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic characteristics, and muscle protein expression. All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene.

Potential impact of benzodiazepine use on the rate of hip fractures in five large European countries and the United States.

Benzodiazepine use increases the risk of falls and has been associated with an increased risk of hip fractures. Our aim was to estimate the possible population impact of the use of benzodiazepines on the rate of hip fracture in France, Germany, Italy, Spain, the United Kingdom, and the United States. We conducted a literature review to estimate the pooled relative risk (RR) for hip fractures and use of benzodiazepines.

Cardiac manifestations of myotonic dystrophy type 1.

Aims: To estimate the degree of cardiac involvement regarding left ventricular ejection fraction, conduction abnormalities, arrhythmia, risk of sudden cardiac death (SCD) and the associations between cardiac involvement and cytosine-thymine-guanine (CTG)-repeat, neuromuscular involvement, age and gender in patients with myotonic dystrophy type 1 (MD1).

Methods And Results: A Pub-Med search for the period 1980 to 2010 was performed according to specified criteria. Cardiac parameters including left ventricular ejection fraction (LVEF), conduction abnormalities and arrhythmia were compiled and only studies without ascertainment bias were included.

Data-driven identification of co-morbidities associated with rheumatoid arthritis in a large US health plan claims database.

Background: In drug development, it is important to have an understanding of the full spectrum of co-morbidities to be expected in the group of patients with the disease of interest. It is usually a challenge to identify the less common events associated with the target disease, even if these events are severe. The purpose of this study is to identify co-morbidities associated with rheumatoid arthritis (RA) as compared with a control group, using a large health care database.