Primary ciliary dyskinesia (PCD) in adults has not been well described. In this retrospective observational study we aimed to characterise a large adult population and identify features associated with disease progression.We retrospectively analysed 151 adult patients at a single tertiary centre at baseline and longitudinally for a median of 7 years.We found significant variation in age at diagnosis (median 23.5 years; range <1-72 years). Older age at diagnosis was associated with impaired baseline forced expiratory volume in 1 s (FEV1) (r= -0.30, p=0.01) and increased Pseudomonas aeruginosa colonisation (difference in medians 17 years (95% CI 4.5-20 years); p=0.002). Lung function decline was estimated at FEV1 decline of 0.49% predicted per year. Lung function decline was associated with ciliary ultrastructure, with microtubular defect patients having the greatest decline (p=0.04). High-resolution computed tomography (HRCT) scores of severity of bronchial wall dilatation (p<0.001) and extent of bronchiectasis (p=0.03) additionally showed evidence of modifying FEV1 decline with age.Our study reveals that a large proportion of adult PCD patients are diagnosed late, with impaired FEV1 and increased P. aeruginosa colonisation. Increased disease burden on HRCT and ciliary ultrastructure may predict progressive lung function decline. This study characterises a large adult PCD population, identifies features associated with disease progression and highlights the need for prospective trials to determine whether early diagnosis of high-risk subgroups alongside optimal management can modify disease progression.

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To identify the anatomy and pathology of chest wall malformations presenting for consideration for corrective surgery or as a possible chest wall "mass", and to review the common corrective surgical procedures. Congenital chest wall deformities are caused by anomalies of chest wall growth, leading to sternal depression or protrusion, or are related to failure of normal spine or rib development. Cross-sectional imaging allows appreciation not only of the involved structures but also assessment of the degree of displacement or deformity of adjacent but otherwise normal structures and differentiation between anatomical deformity and neoplasia. In some cases, CT is also useful for surgical planning. The use of three-dimensional reconstructions, utilizing a low-dose technique, provides important information for the surgeon to discuss the nature of anatomical abnormalities and planned corrections with the patient and often with their parents. In this pictorial essay, we discuss the radiological features of the commonest congenital chest wall deformities and illustrate pre- and post-surgical appearances for those undergoing surgical correction.

Adult Primary Ciliary Dyskinesia (PCD) has not been well characterised. Patients have varied radiological severity of disease and lung function impairment and limited data is available regarding prognosis. In this retrospective study we describe and characterise a large adult PCD cohort, and identify determinates of disease progression using longitudinal lung function data.We retrospectively analysed 151 adult patients at a single tertiary centre. Overall mortality was 4.6% over a 7-year median follow-up period. Lung function decline was estimated at 0.49%FEV1predicted/year. Older age at diagnosis showed moderate negative correlation with FEV1%predicted at diagnosis (r = -0.30; p = 0.01) and increased Pseudomonas aeruginosa colonisation (p < 0.01) but not longitudinal FEV1%predicted (β = 0.001; (95% CI:-0.35,0.35)). Within multivariate mixed models of FEV1 adjusting for ciliary ultrastructure, HRCT scoring of severity of bronchial wall dilatation (p < 0.01) and extent of bronchiectasis (p = 0.03) showed evidence of modifying the decline in FEV1 with age. Lung function decline additionally differed by ciliary ultrastructure (p = 0.04) with patients with microtubular defects having the greatest decline.Our study reveals a large proportion of adult PCD patients are diagnosed late with lower FEV1 and increased P. aeruginosa colonisation at diagnosis. Increased disease burden on HRCT and microtubular defects on ciliary ultrastructure predicts progressive lung function decline. This study highlights the need for early diagnosis alongside prospective multi-centre disease-specific trials to confirm triggers for lung function decline and identify potential novel therapeutic strategies.

Angiosarcomas are rare, aggressive soft tissue sarcomas originating from endothelial cells of lymphatic or vascular origin and associated with a poor prognosis. The clinical and imaging features of angiosarcomas are heterogeneous with a wide spectrum of findings involving any site of the body, but these most commonly present as cutaneous disease in the head and neck of elderly men. MRI and CT are complementary imaging techniques in assessing the extent of disease, focality and involvement of adjacent anatomical structures at the primary site of disease. CT plays an important role in the evaluation of metastatic disease. Given the wide range of imaging findings, correlation with clinical findings, specific risk factors and patterns of metastatic disease can help narrow the differential diagnosis. The final diagnosis should be confirmed with histopathology and immunohistochemistry in combination with clinical and imaging findings in a multidisciplinary setting with specialist sarcoma expertise. The purpose of this review is to describe the clinical and imaging features of primary sites and metastatic patterns of angiosarcomas utilising CT and MRI.