Phenotypic variability in chorea-acanthocytosis associated with novel mutations.

Objective: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden.

Methods: Clinical assessments, targeted genetic studies, neuroimaging with MRI, [F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with I FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS).

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

The original version of this article [1] unfortunately included an error to an author's name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of this Correction article.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms.

Increased prevalence of celiac disease in idiopathic inflammatory myopathies.

Objectives: Idiopathic inflammatory myopathies (IIM) are often associated with other immune-mediated diseases or malignancy. Some studies have reported a high frequency of celiac disease in IIM. The aim of this study was to investigate the prevalence of celiac disease, systemic inflammatory diseases, and malignancy in a cohort of IIM patients, and estimate the incidence of IIM in the county of Östergötland, Sweden.

Bivalirudin versus Heparin Monotherapy in Myocardial Infarction.

Background: The comparative efficacy of various anticoagulation strategies has not been clearly established in patients with acute myocardial infarction who are undergoing percutaneous coronary intervention (PCI) according to current practice, which includes the use of radial-artery access for PCI and administration of potent P2Y inhibitors without the planned use of glycoprotein IIb/IIIa inhibitors.

Methods: In this multicenter, randomized, registry-based, open-label clinical trial, we enrolled patients with either ST-segment elevation myocardial infarction (STEMI) or non-STEMI (NSTEMI) who were undergoing PCI and receiving treatment with a potent P2Y inhibitor (ticagrelor, prasugrel, or cangrelor) without the planned use of glycoprotein IIb/IIIa inhibitors. The patients were randomly assigned to receive bivalirudin or heparin during PCI, which was performed predominantly with the use of radial-artery access.

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000).

Classification and diagnostic investigation in inflammatory myopathies: a study of 99 patients.

Objective: Insights into the pathogenesis of inflammatory myopathies have led to new diagnostic methods. The aims of our study were (1) to evaluate the consequences of using the classification of Amato/European Neuromuscular Centre Workshop (ENMC) compared to that of Bohan and Peter; and (2) to evaluate any diagnostic benefit in using an extended pathological investigation.

Methods: From a consecutive retrospective database, we evaluated 99 patients for classification.

Extensive inflammatory cell infiltration in human skeletal muscle in response to an ultraendurance exercise bout in experienced athletes.

The impact of a 24-h ultraendurance exercise bout on systemic and local muscle inflammatory reactions was investigated in nine experienced athletes. Blood and muscle biopsies were collected before (Pre), immediately after the exercise bout (Post), and after 28 h of recovery (Post28). Circulating blood levels of leukocytes, creatine kinase (CK), C-reactive protein (CRP), and selected inflammatory cytokines were assessed together with the evaluation of the occurrence of inflammatory cells (CD3(+), CD8(+), CD68(+)) and the expression of major histocompatibility complex class I (MHC class I) in skeletal muscle.

Subacute neuronopathy in a young man: a possible association with tetracycline treatment.

A young man with subacute neuronopathy following tetracycline treatment is described. The symptoms started as a sensory dorsal root affection but by time also involved motor nerves. He developed a severe sensory ataxia with pseudoathetotic movements.

Work-related musculoskeletal disorders when performing laparoscopic surgery.

Aim: The aim of this study was to survey the occurrence of musculoskeletal disorders in the population of gynecologists and general surgeons performing laparoscopic surgery.

Methods: A questionnaire was distributed to 558 general surgeons and gynecologists and 378 were answered (68%). Descriptive data analysis and statistical calculations were performed.

Aprotinin reduces the antiplatelet effect of clopidogrel.

Aprotinin reduces bleeding and transfusion rates in patients undergoing coronary surgery while on clopidogrel. However, safety studies have indicated that aprotinin may have a possible adverse effect related to an increased incidence of thromboembolic events. We therefore studied the adenosinediphosphate (ADP) mediated platelet aggregation before and after administration of aprotinin in patients on clopidogrel.

Expression of apoptosis related proteins in normal and diseased muscle: a possible role for Bcl-2 in protection of striated muscle.

The unique absence of major histocompatibility complex class I antigen (MHC-I) expression in normal muscle is one possible mechanism protecting striated muscle. In order to define their possible involvement in protection of normal muscle, we investigated the expression of molecules involved in muscle fibre death and survival mechanisms (Bcl-2, Fas, Fas-ligand and TRAIL), focusing on disorders with possible involvement of cytotoxic T cells. We studied muscle biopsies from 20 healthy volunteers, from 10 patients affected by polymyositis and 10 by Duchenne muscular dystrophy.

Daily stress and social support among women with CAD: results from a 1-year randomized controlled stress management intervention study.

Background: Psychosocial stress may play a causative role in development and progression of coronary artery disease (CAD).

Purpose: We investigated the effects of a 1-year stress management program on daily stress behavior and social support among female CAD patients.

Method: Women, 247 ( View Article and Find Full Text PDF

Increased serum inflammatory markers in the absence of clinical and skeletal muscle inflammation in patients with chronic obstructive pulmonary disease.

Background: Muscle wasting and cachexia are common occurrences in patients with chronic obstructive pulmonary disease (COPD).

Objectives: The current study aimed to investigate markers of inflammation in the circulation and skeletal muscle that might be associated with development of muscle wasting.

Methods: Three groups of patients with mild, moderate and severe COPD and matched healthy controls were recruited.

A case report of plasmapheresis treatment in a patient with paraneoplastic cerebellar degeneration and high anti-yo antibody titers.

A patient with paraneoplastic cerebellar degeneration due to anti-Purkinje cell antibodies (anti-Yo) arising from ovarian carcinoma with metastases was treated with three plasmapheresis (PP) series (a total of 22 PP treatments) over one year and was monitored by repeated otoneurological testing, balance tests and clinical investigations. Blood samples for antibody titers were checked on several occasions. Initially there was a weak clinical response and significantly improved test results regarding the caloric response, as well as a possible effect on visual suppression of the vestibulo-ocular reflex after caloric ear irrigation.

Limited effects of high-dose intravenous immunoglobulin (IVIG) treatment on molecular expression in muscle tissue of patients with inflammatory myopathies.

Objectives: The study was conducted with the aim of achieving an improved understanding of the molecular mechanisms of high-dose intravenous immunoglobulin (IVIG) in inflammatory myopathies by investigating the effects on muscle function and immunological molecules in skeletal muscle of polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM) patients.

Methods: Thirteen treatment-resistant patients, 6 PM, 4 DM, 2 IBM and 1 juvenile DM, were treated with 2 g/kg of IVIG, three times at monthly intervals. Functional Index in Myositis and serum creatinine kinase (CK) levels were determined, and muscle biopsies were performed before treatment and after the third IVIG infusion.

Sirolimus-eluting coronary stents in small vessels.

Background: This prospective multicenter study compared angiographic in-lesion late lumen loss in de novo native coronary artery lesions (vessel diameter range 2.25-2.75 mm, length range > or = 15 to < or = 30 mm) 8 months after the implantation of a sirolimus-eluting stent with that of similar vessels with the same drug-eluting stent or a bare stent of the SIRIUS study (historical controls).

A comprehensive rehabilitation programme tailored to the needs of adults with muscular dystrophy.

Objective: To assess if activities of daily living (ADL), coping and quality of life could be improved in adults with muscular dystrophy through a comprehensive rehabilitation programme.

Design: Quasi-experimental, controlled clinical study comparing patients with similar age and disease aspects.

Setting: Two different counties in Sweden, being either study or control setting.

Surface electromyography and peak torque of repetitive maximum isokinetic plantar flexions in relation to aspects of muscle morphology.

This study investigates the relationships between surface electromyography (EMG [Mean frequency of the power spectrum (MNF)]) and peak torque variables obtained during 100 maximum concentric plantar flexions with the right limb at 60 degrees s(-1) and different muscle morphological variables. Surface EMG was recorded from the right gastrocnemius lateralis and muscle biopsies were taken from the same site as the EMG electrodes were positioned. Muscle fibre area and fibre type composition were determined on serial muscle cross sections using both histochemistry (myofibrillar adenosine triphosphatase) and immunohistochemistry (monoclonal antibodies against specific myosin heavy chain isoforms).

Muscle involvement in juvenile idiopathic arthritis.

Objective: An observational study of changes in muscle structure and the relation to muscle strength in juvenile idiopathic arthritis (JIA).

Methods: Fifteen children and teenagers (eight girls and seven boys) with JIA, aged 9-19 yr (mean age 16.1), were studied.

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles.

The expression of adhesion molecules in muscle biopsies: the LFA-1/VLA-4 ratio in polymyositis.

Objectives: The expression of three pairs of adhesion receptors and ligands was examined in 22 consecutive muscle biopsies showing morphological signs of inflammation.

Material And Methods: The following groups were studied: patients with polymyositis (PM) (n=7), patients with myositis that did not fulfil criteria for PM, i.e.