The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology
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Although long-term oxygen therapy (LTOT) improves survival, it has little effect on hypoventilation and other outcomes in patients with hypercapnic respiratory failure due to chronic obstructive pulmonary disease (COPD). Recent studies have shown that the use of noninvasive positive-pressure ventilation, when used in combination with LTOT in selected stable COPD patients, controls hypoventilation and improves daytime arterial blood gases, sleep quality, health status and may have a benefit in reducing exacerbation frequency and severity. ⋯ Some benefits have also been shown in patients with chronic respiratory failure due to bronchiectasis and cystic fibrosis, though survival is inferior in this patient group. As most studies of noninvasive positive-pressure ventilation in chronic obstructive pulmonary disease have been relatively short term, large multicentre studies with survival, exacerbations and hospital admissions as the primary end points are required to evaluate longer term effects.
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Primary pulmonary hypertension has been described as either sporadic or clustered in families. Familial primary pulmonary hypertension segregates as an autosomal dominant trait with markedly reduced disease gene penetrance. Defects within bone morphogenetic protein receptor type II gene, coding for a receptor member of the transforming growth factor-beta family, underlie familial primary pulmonary hypertension. ⋯ These findings emphasise the critical role of the transforming growth factor-beta signalling pathway in pulmonary arterial hypertension. While this achievement has generated extreme interest, the pathobiology of severe pulmonary arterial hypertension remains unclear and genomic approaches to pulmonary hypertension research may identify additional molecular determinants for this disorder. Finally, there is an urgent need to develop relevant guidelines for genetic counselling to assist patients, their relatives and pulmonary vascular specialists to utilise these recent observations.