1. Shovlin Group primary data papers used to develop the model
Note these examined concepts in patients with the rare disease of pulmonary arteriovenous malformations (PAVMs). Individuals with PAVMs are unusual because they have blood hypoxemia without alveolar hypoxia, and thus illustrate compensatory mechanisms when there is no confounding hypoxic pulmonary vasoconstriction/pulmonary hypertension.
Santhirapala V, Williams LC, Tighe H, Jackson JE, and Shovlin CL.
Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity. An observational study of hypoxaemic patients with pulmonary arteriovenous malformations.
PLoS One. 2014 Mar 17;9(3):e90777
Howard LSG*, Santhirapala V*, Murphy K, Mukherjee B, Busbridge M, Tighe H, Jackson JE, Hughes JMB, and Shovlin CL.
Cardiopulmonary exercise testing demonstrates maintenance of exercise capacity in hypoxemic patients with pulmonary arteriovenous malformations.
Chest 2014 Sep 1;146(3):709-18
Santhirapala V, Chamali B, McKernan H, Tighe HC, Williams LC, Springett JT, Bellenberg HR, Whitaker AJ, and Shovlin CL.
Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations – a prospective 8 year series.
Thorax 2014 Nov;69(11):1046-7.
2. Other references
In these papers, Dr Shovlin summarises the information presented in the papers above, using either an instructive example of one particular individual (via a "Case Report"), or in formal review articles explaining how these concepts are important to guide the medical management of people with PAVMs and/or hereditary haemorrhagic telangiectasia (HHT).
Yasuda W, Jackson JE, Layton DM, Shovlin CL.
Hypoxaemia, sport and polycythaemia: a case from Imperial College London.
Thorax2015 Apr 8 [epub ahead of print].
Pulmonary arteriovenous malformations.
Am J Respir Crit Care Med. 2014 Dec 1;190(11):1217-28
Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia
Front Genetics 2015 Apr 9.6 (101)