Emergencies in neuromuscular pathology

Acute muscle weakness (AMW) is the predominant symptom of neuromuscular emergencies, especially if it affects the respiratory or oropharyngeal musculature . AMW is a multi-etiological syndrome, with different lesion levels in the motor unit. Within the broad group of neuromuscular diseases, those that most frequently provoke AMW and respiratory failure are Guillain-Barré syndrome (GBS) and myasthenia gravis (MG). GBS is the most frequent cause of acute flaccid paralysis; it can cause respiratory failure in a third of cases, making mechanical ventilation necessary. Accurate diagnosis of this syndrome enables immunomodulatory treatment to be started, which has been shown to modify the course of the disease. Besides, clinical evaluation of the patients and knowledge of the simple tests of neurophysiology and respiratory function will guide the decision on mechanical ventilation, avoiding emergency intubation. The most frequent emergency caused by MG is myasthenic crisis, defined by the deterioration in the bulbar function with acute respiratory insufficiency and risk of respiratory stoppage. This occurs in 15-20% of myasthenic patients and can be triggered by numerous factors. Besides early identification of the crisis, it is important to suppress the triggering factors and to provide measure of ventilatory support. Amongst the pharmacological measures, the most useful instruments at present are plasmapheresis and intravenous immunoglobulins; these treatments do not cancel the need for intensive vigilance and of checking for imminent signs of respiratory failure that will involve invasive or non-invasive ventilatory support.     

Prenatal diagnosis of skeletal dysplasia due to <Emphasis Type="Italic">FGFR3</Emphasis> gene mutations: a 9-year experience

Purpose  

Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses.     

Traumatic lung cyst

We report a patient with a traumatic lung cyst, documenting its radiological evolution: the formation of the pneumatocele, the appearance posteriorly of an intracavitary hematoma, and the spontaneous resolution of the radiological abnormalities.     

The interaction of cycloserine with pyruvate and other biologically relevant alpha-ketoacids

The ability of cycloserine solutions to deplete alpha-oxoacids has been found to be correlated with the spontaneous transformation of cycloserine into a derivative dimer (2,5-bis-(aminoxymethyl)-3,6-diketopiperazine). Synthetic dimer was found to react rapidly with pyruvate to form the expected oxime. Two lines of evidence indicate that it is the cycloserine dimer and not cycloserine itself that reacts with alpha-ketoacid. First, the 1H NMR spectrum of the purified oxime is superimposable with that arising when the dimer and pyruvate are mixed and the spectrum taken immediately thereafter. Second, the mass spectrum of the reaction product of cycloserine dimer and methylpyruvate is totally consistent with the formation of a stable oxime derivative. Furthermore, when cycloserine is incubated with pyruvate the oxime derived from the dimer is found. These observations clearly indicate that cycloserine in solution can have chemical activities in addition to its ability to interfere with pyridoxal dependent reactions. On these grounds it is concluded that any biological action of cycloserine should be interpreted cautiously.     

Influence of the host plant in the cytostatic activity of Viscum cruciatum sieber

Extracts prepared from 4 samples of Viscum cruciatum Sieber collected from 4 different botanic species were evaluated for cytostatic activity using the KB test system. The inhibition of cellular growth, determined according to the cellular protein content, varies with the nature of the host plant.     

Controlled activity mite vaccines for 'barn allergy'

Three species of mites, Tyrophagus longior, Glyciphagus destructor, and Acarus farris have been isolated from the dust of barns of farms in Orkney. The mites were cultured in amount sufficient for the production of bulk extracts. These were then tested by skin prick in a population of 30 inhabitants of Orkney and potency was assigned in units of biologic activity. The concentrations of the bulk extracts from the different species were adjusted to the same biologic potency and then used to make delayed-release vaccines for injection therapy and aqueous solutions for provocation tests and therapy by the nasal route. The vaccines were then administered by injection to nine subjects at weekly intervals over a period of 2 months. Assessment by questionnaire suggested that there was a significant improvement in the symptoms of eight of the nine subjects. A course of nasal therapy with the aqueous solutions produced no improvement in four out of five subjects.