For newborns suspected having childhood interstitial lung disease (ChILD), the sequencing of genes encoding surfactant proteins is recommended. However, it is still difficult to interpret the... Show moreFor newborns suspected having childhood interstitial lung disease (ChILD), the sequencing of genes encoding surfactant proteins is recommended. However, it is still difficult to interpret the clinical significance of those variants found. We report a full-term born female infant who presented with respiratory distress and failure to thrive at 2 months of age and both imaging and lung biopsy were consistent with ChILD. Her genetic test was initially reported as a variant of unknown significance in surfactant protein C (c.202G > T, p.V68F), which was modified later as likely pathogenic after reviewing a report of the same variant as causing ChILD. The infant was placed on noninvasive ventilation and treated with IV Methylprednisolone, Hydroxychloroquine, and Azithromycin but did not show significant clinical and radiological improvement underwent tracheostomy and is awaiting lung transplantation at 8 months of age. The challenges interpreting the genetic results are discussed. Show less
In systemic sclerosis (SSc) therapeutic efforts are often directed to prevent progressive respiratory impairment, but it is unclear to what extent changes in pulmonary function tests (PFTs) are... Show moreIn systemic sclerosis (SSc) therapeutic efforts are often directed to prevent progressive respiratory impairment, but it is unclear to what extent changes in pulmonary function tests (PFTs) are associated with health-related quality of life (HRQoL). The aim of our study is to evaluate how modifications in PFTs contribute to longitudinal variations in HRQoL, assessed through the multidimensional questionnaire EQ-5D, in patients with SSc. We included SSc patients with forced vital capacity (FVC%), diffusing capacity of the lungs for carbon monoxide (DLCO%) and EQ-5D assessed in at least two visits. The EQ-5D consists of two parts, a utility score ranging from - 0.59 to 1, and a 0-100 Visual Analogue Scale (VAS). Higher values represent better health. The association between changes in FVC% and DLCO%, and evolution of EQ-5D over time, was investigated using generalized estimating equations. Three hundred seventy-eight patients were included, accounting for a total of 1619 measurements. The models showed that improvement in FVC% is significantly associated with increase in both utility score (beta = 0.001; 95% CI 0.000 to 0.002; p = 0.003) and VAS over time (beta = 0.188; 95% CI 0.111 to 0.264; p < 0.001). Moreover, improvement in DLCO% is longitudinally associated with increase in utility score (beta = 0.001; 95% CI 0.000 to 0.002; p = 0.038), while the results for VAS were non-significant (beta = 0.020; 95% CI -0.079 to 0.120; p = 0.690). We show that change in PFTs has a significant, although minor, impact on HRQoL as measured by EQ-5D in SSc. Show less
In SSc, we evaluated the optimal percentile density score in SSc by quantitative CT densitometry, against pulmonary function. Lung volumes and the nth percentile density (between 1 and 99%) of the... Show moreIn SSc, we evaluated the optimal percentile density score in SSc by quantitative CT densitometry, against pulmonary function. Lung volumes and the nth percentile density (between 1 and 99%) of the entire lungs were calculated from CT histograms. The nth percentile density is defined as the threshold value of densities expressed in Hounsfield units. A prerequisite for an optimal percentage was its correlation with baseline DLCO% predicted. Regression analysis for the relation between DLCO% predicted and the nth percentile density was optimal at 85% (Perc85). There was significant agreement between Perc85 and DLCO %predicted and FVC% predicted. Of interest, two patients showed a marked change in Perc85 over a two year period, but the localisation of change differed clearly. We conclude that we identified Perc85 as optimal lung density parameter, which correlated significantly with DLCO and FVC, confirming a lung parenchymal structure-function relation in SSc. This provides support for future studies to determine whether structural changes do precede lung function decline. Show less
