ABSTRACT
Motor neurone disease is a neurodegenerative condition with a significant morbidity and shortened life expectancy. Hypoventilatory respiratory failure is the most common cause of death and respiratory function significantly predicts both survival and quality of life in patients with motor neurone disease. Accordingly, supporting and maintaining respiratory function is important in caring for these patients. The most significant advance in motor neurone disease care of recent years has been the domiciliary provision of non-invasive ventilation for treating respiratory failure. Neuromuscular respiratory weakness also leads to ineffective cough and retained airways secretions, predisposing to recurrent chest infections. In this review, we discuss current practice and recent developments in the respiratory management of motor neurone disease, in terms of ventilatory support and cough augmentation.
Subject(s)
Motor Neuron Disease/epidemiology , Motor Neuron Disease/therapy , Respiratory Insufficiency/epidemiology , Respiratory Insufficiency/therapy , Respiratory Mechanics , Animals , Disease Management , Humans , Motor Neuron Disease/diagnosis , Palliative Care/methods , Palliative Care/trends , Respiratory Insufficiency/diagnosis , Respiratory Mechanics/physiologyABSTRACT
An intravenous drug abuser with a retained needle posed a management problem at a neurosurgical unit, having declined magnetic resonance imaging (MRI) on safety grounds. However, later, having been assessed by the senior radiologist, she went though the MRI scan safely.
ABSTRACT
An 18-year-old Asian girl was referred to the nephrology unit with rapidly progressive renal failure. At the age of 15 she was diagnosed as having systemic lupus erythematosus but had defaulted treatment. Her renal functions improved with cyclophosphamide pulse treatment but she continued to have central nervous system vasculitis, gastrointestinal vasculitis and opportunistic infections making her a unique and challenging case of systemic lupus erythematosus.
ABSTRACT
An immigrant from Romania was referred to the neurosurgical unit with a cerebral abscess. On examination she was cyanosed and had clubbing of her fingers. A cardiovascular system examination revealed a systolic murmur heard all over the precordium. However, the diagnosis was not congenital cyanotic heart disease. The patient had a history of frequent nosebleeds and had multiple telangiectases on her body, leading to the diagnosis of hereditary haemorrhagic telangiectasia (HHT). A search was carried out for the presence of arteriovenous malformations in internal organs. Large arteriovenous malformations were found in the lungs, causing her cyanosis due to right-to-left shunting of blood and cerebral abscess due to paradoxical septic embolisation into cerebral circulation.
ABSTRACT
A 63-year-old woman with severe symptomatic postural hypotension was treated unsuccessfully, and no underlying cause was found for 3 years until she was noted to have hypoalbuminaemia and proteinuria. A renal biopsy led to the diagnosis of amyloidosis. Despite being an established cause for autonomic neuropathy, amyloidosis was not suspected early enough. Although a diagnosis was reached and treatment started, the patient died as a complication of chemotherapy.
ABSTRACT
A 61-year-old woman presented with a life long history of fatigability which worsened on exertion. She became fearful of exercising and thus was labelled as "lazy" by family and friends. After being started on simvastatin she was found to have raised creatine kinase (CK) values, which remained elevated despite stopping the drug. On the basis of the history, McArdle disease was suspected and a muscle biopsy confirmed it.