An Age-Related Morphometric Profile of Skeletal Muscle in Healthy Untrained Women.

There is a paucity of data on muscle biopsies in females of mixed ages in terms of age-related changes. Cross sections of autopsy material including the quadriceps femoris and biceps brachii muscles were obtained from 23 healthy women, aged 24-82 years, who had suffered sudden death. We calculated the percentage of the number, and the mean diameter, of type I and type II muscle fibers within the fascicles as well as in their peripheral parts.

Caveolinopathies in Greece.

Introduction: Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation.

Patients And Methods: The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients' phenotypes ranged from asymptomatic creatine kinase elevation to severe weakness of lower extremities.

Phenotypic variability and molecular genetics in proximal myotonic myopathy.

Introduction: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.

Methods: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.

Results: The age at diagnosis ranged from 38 to 69 years.

Increased dysferlin expression in Duchenne muscular dystrophy.

Objective: To investigate dysferlin expression in muscle biopsies from patients with Duchenne muscular dystrophy (DMD). Dysferlin is known to have a role in the process of membrane fusion and muscle membrane repair in skeletal muscle fibers.

Study Design: We analyzed 20 muscle biopsy samples of DMD patients with immunohistochemical techniques to determine the expression of dysferlin.

Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.

Muscle lim protein (MLP) has emerged as a critical regulator of striated muscle physiology and pathophysiology. Mutations in cysteine and glycine-rich protein 3 (CSRP3), the gene encoding MLP, have been directly associated with human cardiomyopathies, whereas aberrant expression patterns are reported in human cardiac and skeletal muscle diseases. Increasing evidence suggests that MLP has an important role in both myogenic differentiation and myocyte cytoarchitecture, although the full spectrum of its intracellular roles has not been delineated.

Effects of Strength vs. Ballistic-Power Training on Throwing Performance.

The purpose of the present study was to investigate the effects of 6 weeks strength vs. ballistic-power (Power) training on shot put throwing performance in novice throwers. Seventeen novice male shot-put throwers were divided into Strength (N = 9) and Power (n = 8) groups.

Bone density in patients with late onset Pompe disease.

Background: Pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. The infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. Bone mineral density (BMD) has been recently reported to be reduced in many patients with both forms of the disease.

OX40-OX40L expression in idiopathic inflammatory myopathies.

Objective: To examine whether both OX40 and its ligand OX40L are expressed in idiopathic inflammatory myopathies and to investigate the types of inflammatory cells expressing OX40L.

Study Design: Immunohistochemistry was performed in limb muscle specimens from dermatomyositis, polymyositis and inclusion body myositis patients to analyze the expression of OX40 and its ligand OX40L. Double immunofluorescence labeling was performed to clarify the phenotype of inflammatory cells expressing OX40L.

Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy.

Pompe disease is an autosomal recessive disorder caused by the deficiency of acid α-glucosidase resulting in lysosomal accumulation of glycogen and abnormal autophagic function. The late-onset form of the disease is characterized by progressive skeletal and respiratory muscle dysfunction. Enzyme replacement therapy (ERT, Genzyme Corporation, Cambridge, MA, USA) was recently introduced and resulted in significant prolongation of the life expectancy of the patients with the infantile form while the results were less significant for the late-onset form.

Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2.

Current evidence suggests cardiac involvement and electrocardiographic changes of increasing frequency with age in patients with myotonic dystrophy type 2 (DM2). Myocyte hypertrophy with concurrent fibrosis seems to be the anatomical correlate. Moreover, morphological and functional changes indicative of subclinical cardiomyopathy have been demonstrated by means of cardiac magnetic resonance imaging (CMRI) and spectroscopy in patients with no overt cardiac disease.

Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy.

Pompe disease is a rare autosomal recessive disorder characterized by the deficiency of acid α-glycosidase resulting in lysosomal accumulation of glycogen. The late-onset disease form is characterized by progressive skeletal and respiratory muscle dysfunction. In addition to the recently introduced enzyme replacement therapy (ERT), treatments such as protein-enriched diet and exercise training have been proposed, although little is known about their effectiveness on the physical condition of such patients.

Effect of pulmonary rehabilitation on peripheral muscle fiber remodeling in patients with COPD in GOLD stages II to IV.

Background: In most patients with COPD, rehabilitative exercise training partially reverses the morphologic and structural abnormalities of peripheral muscle fibers. However, whether the degree of improvement in muscle fiber morphology and typology with exercise training varies depending on disease severity remains unknown.

Methods: Forty-six clinically stable patients with COPD classified by GOLD (Global Initiative for Obstructive Lung Disease) as stage II (n = 14), III (n = 18), and IV (n = 14) completed a 10-week comprehensive pulmonary rehabilitation program consisting of high-intensity exercise three times weekly.

The degree of p70 S6k and S6 phosphorylation in human skeletal muscle in response to resistance exercise depends on the training volume.

Regular performance of resistance exercise induces an increase in skeletal muscle mass, however, the molecular mechanisms underlying this effect are not yet fully understood. The purpose of the present investigation was to examine acute changes in molecular signalling in response to resistance exercise involving different training volumes. Eight untrained male subjects carried out one, three and five sets of 6 repetition maximum (RM) in leg press exercise in a random order.

Toward understanding cognitive impairment in patients with myotonic dystrophy type 1.

Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.

Age-related morphometric characteristics of human skeletal muscle in male subjects.

Objective: The purpose of the present study is to investigate the age-related changes in muscle biopsies from the quadriceps femoris in male subjects of different ages.

Methods: A histological and histochemical study was performed on specimens from the quadriceps femoris from 8 males divided into two groups, under 50 and over 70 years of age. The following measurements were performed: a) number of type 1 and 2 fibres, b) diameter of type 1 and 2 fibres, c) percentage of the number and mean diameter of the two types in the interior and the peripheral area of fascicles.

Muscle fibre type composition and body composition in hammer throwers.

Aim of the present study was to describe the muscle fibre type composition and body composition of well-trained hammer throwers. Six experienced hammer throwers underwent the following measurements: one repetition maximum in squat, snatch, and clean, standing broad jump, backward overhead shot throw and the hammer throw. Dual x-ray absorptiometry was used for body composition analysis.

Coinheritance of Noonan syndrome and Becker muscular dystrophy.

We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene.

Acute effect of drop jumping on throwing performance.

The purpose of the present study was to investigate the acute effect of drop jumping on throwing performance. Eight men and 8 women, moderately trained subjects with basic shot put skills, performed 3 squat underhand front shot throws after a short standard warm-up. Three minutes later they performed 5 maximal consecutive drop jumps from 40 cm.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have been related to defective O-mannosylation of alpha-dystroglycan. In many patients, the underlying genetic etiology remains unsolved. Isolated muscular dystrophy has not been described in the congenital disorders of glycosylation (CDG) caused by N-linked protein glycosylation defects.

Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.

Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis of 4q35 FSHD after a thorough stepwise investigation.

Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.

Introduction: Hirayama disease is a rare nonprogressive, predominantly unilateral, juvenile distal upper limb amyotrophy that involves C7, C8, and Th1 innervated muscles. The etiology and pathogenesis of this focal amyotrophy is presently unknown. There is a debate as to whether Hirayama disease is an unusual neck flexion induced cervical myelopathy or an intrinsic motor neuron disease.