ABSTRACT
A woman in her 70s presented to her general practitioner (GP) with a 3-month history of left upper arm pain and weakness. A significant difference in bilateral blood pressures was noted and a further history elicited coolness in her left arm without functional compromise. A CT angiography revealed variant subclavian steal syndrome with a subclavian arterial stenosis, which was proximal to both the internal mammary and thyrocervical trunk and her left vertebral artery originating from the aortic arch. She was referred to a vascular surgeon but declined surgical intervention. Her symptoms remain stable with 6-month follow-up from her GP. This case highlights the importance of considering vascular aetiologies in upper limb pain and weakness. Our case reviews the differential diagnoses of upper limb pain and weakness, consequently leading to the discussion of an interesting variant of subclavian stenosis.
Subject(s)
Subclavian Artery , Subclavian Steal Syndrome , Female , Humans , Subclavian Artery/diagnostic imaging , Subclavian Steal Syndrome/diagnostic imaging , Vertebral Artery/diagnostic imaging , Constriction, Pathologic/complications , Aorta, Thoracic , Pain/complicationsABSTRACT
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
