s-j syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. case report: first case: n.1. a boy aged 7 years. his main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. myotonic ...

the aim of this study was to investigate the effect of external intervention factor (types of music) on physical fitness factors in adolescent boys. 30 adolescent boys (9-12 years old, msd height, weight and bmi: 133.82.40 cm, 35.62.97 kg, and 19.91.21 kg/cm2), were selected and performed the tests in three stages (fast music, slow music, control) with counter balance method. in each stage, the...

OBJECTIVE To determine overall handgrip strength (HGS), we assessed the short-term change of HGS after trigger point injection (TPI) in women with muscular pain in the upper extremities by comparison with established pain scales. METHODS The study enrolled 50 female patients (FMS with MPS group: 29 patients with combined fibromyalgia [FMS] and myofascial pain syndrome [MPS]; MPS group: 21 pat...

Background: Lack of mobility and motor impairments can intensify mental health problems in the elderly. Muscle weakness is one of the most important cause of fall in the old individuals. Muscular performance is regarded as one of the significant components of quality of life in older adults. Aim: This study aimed to investigate the effect of resistance training using Thera-Band on muscular stre...

Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy in humans. The goal of myogenic stem cell transplant therapy for DMD is to increase dystrophin expression in existing muscle fibers and to provide a source of stem cells for future muscle generation. Although syngeneic myogenic stem cell transplants have been successful in mice, allogeneic transplants of ...

Congenital muscular dystrophy caused by laminin a2 chain deficiency (also known as MDC1A) is a severe and incapacitating disease, characterized by massive muscle wasting. The ubiquitin-proteasome system plays a major role in muscle wasting and we recently demonstrated that increased proteasomal activity is a feature of MDC1A. The autophagy-lysosome pathway is the other major system involved in ...

Spinal muscular atrophy (SMA) is a recessive autosomal disorder characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron gene (SMN1). No curative treatment is known so far. Mutant mice carrying homozygous deletion of Smn exon 7 directed to neurons display skeletal muscle denervation, moderate loss of motor neuron cell bodies and severe axonal degener...

BACKGROUND The success of muscular dystrophy gene therapy requires widespread and stable gene delivery with minimal invasiveness. Here, we investigated the therapeutic effect of systemic delivery of adeno-associated virus (AAV) vectors carrying human delta-sarcoglycan (delta-SG) gene in TO-2 hamsters, a congestive heart failure and muscular dystrophy model with a delta-SG gene mutation. METHO...

A histologic study was performed on 22 specimens of pulmonary atresia with ventricular septal defect to 1) ascertain the existence of the main pulmonary artery; 2) distinguish the ductus arteriosus from the systemic collateral arteries (SCA); 3) establish the nutritive or functional nature of collateral circulation; and 4) evaluate the morphology of the distal pulmonary bed. Three cases had abs...