Reactive oxygen species are strongly implicated in diaphragmatic dysfunction during sepsis. We investigated whether the heme oxygenase (HO) pathway, which is a powerful protective cellular system, protects the diaphragm against oxidative stress and contractile failure during sepsis. A basal expression of both the inducible and constitutive HO protein isoforms (HO-1 and HO-2, respectively) was f...

The level of plasma brain natriuretic peptide (BNP) was elevated in 8 of 15 female gene carriers of Duchenne muscular dystrophy (DMD), and the level correlated with indices of cardiac function. In one of these carriers, whose clinical course was followed for one year, the plasma BNP level was elevated before the development of cardiac symptoms, further increased with the evolution of cardiac sy...

facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

BACKGROUND Duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. In the last twenty years, treatments have been established that have significantly improved patients' quality of life and life expectancy. The purpose of this article is to outline the main features of the disease and its treatment, and to examine possible future treatment options. METHOD The ...

A case of progressive muscular dystrophy with cardiac involvement in a young Negro man is reported. The presenting problem was cardiomegaly and congestive heart failure. It was not until compensation was achieved that the underlying myopathy became apparent. Death was unexpected and presumably sudden. An unusual finding at the postmortem examination was the marked thickening of the endocardium....

We report a rare case of acute respiratory failure in a previously asymptomatic patient showing clinical signs of inferior cranial nerve palsy together with weakness and muscular atrophy of the upper limbs. Magnetic resonance imaging revealed Arnold-Chiari malformation associated with platybasia, basilar impression, syringomyelia and Klippel-Feil syndrome. Episodes of apnoea required tracheosto...

A 32-year-old man with Duchenne muscular dystrophy (DMD) was admitted to the hospital because of worsening dyspnea and general fatigue. He had received medication therapy for cardiomyopathy with heart failure and home mechanical ventilation for respiratory failure. An electrocardiogram on admission showed intermittent third-degree atrioventricular block. Echocardiography showed global mild left...

Posttraumatic wounds of the lower leg with soft tissue defects and exposed fractures are a reconstructive challenge due to the scarce availability of local tissues and recipient vessels. Even when a free tissue transfer can be performed the risk of failure remains considerable. When a free flap is contraindicated or after a free flap failure, the cross-leg flap is still nowadays a possible opti...

Despite recent advances in heart failure therapy, patients with end-stage cardiac failure have a poor prognosis and die within 5 years. Diagnosis of the hereditary form of heart failure is becoming increasingly prevalent due to the identification of causative mutations in many structural genes encoding contractile and cytoskeletal proteins. The majority of muscular dystrophies including Duchenn...

Polyarteritis nodosa (PAN) causes necrotizing angitis mainly in medium-sized muscular arteries throughout the body, and various clinical signs and symptoms such as fever, malaise, weight loss, skin necrosis, renal failure, cerebral nervous system disorder, heart failure, and myalgia develop in affected patients. However, otolaryngologists rarely encounter patients with polyarteritis nodosa, exc...