Bilateral diaphragm paralysis is a rare cause of unexplained respiratory failure. Although it is a known complication of cardiothoracic surgery, it is often under-recognized and diagnosis is frequently delayed.1 It should be considered in patients with low lung volumes on imaging, progressive hypercapnia, and pronounced dyspnea in the supine position.2 Pulmonary function tests reveal a restrict...

The inherited diseases hyperkalemic periodic paralysis and paramyotonia congenita are caused by mutations in the adult skeletal muscle sodium channel gene. To determine if differences in the expression patterns of the adult and cardiac/fetal sodium channel genes could explain some clinical features of these disorders, we developed a novel mRNA quantitation strategy called quantitative multiplex...

The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presen...

Chronic bee paralysis virus (CBPV) is known as a disease of worker honey bees. To investigate pathogenesis of the CBPV on the queen, the sole reproductive individual in a colony, we conducted experiments regarding the susceptibility of queens to CBPV. Results from susceptibility experiment showed a similar disease progress in the queens compared to worker bees after infection. Infected queens e...

The goal of this study was to analyse perceptually and acoustically the voices of patients with Unilateral Vocal Fold Paralysis (UVFP) and compare them to the voices of normal subjects. These voices were analysed perceptually with the GRBAS scale and acoustically using the following parameters: mean fundamental frequency (F0), standard-deviation of F0, jitter (ppq5), shimmer (apq11), mean harmo...

A boy delivered at 32 weeks' gestation developed bilateral pneumothoraces that required multiple chest drains. He was dependent on the ventilator for 52 days because of bilateral diaphragmatic paralysis. Electrophysiological studies confirmed phrenic nerve damage. He eventually made a full recovery. It is likely that this damage was caused by the insertion of the chest drains.

Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage-gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2...