Esophageal dysmotility and lung disease in patients with systemic sclerosis: is there a possible association or correlation? A retrospective chart review.

OBJECTIVE: Our aim was to evaluate the relationship between esophageal dysmotility and lung disease by correlating the results of Echocardiogram and Pulmonary Function Test (PFT) with Esophageal Transit Study (ETT). METHODS: Charts of Systemic Sclerosis (SSc) patients fulfilling 2013 ACR/EULAR classification criteria seen in Rheumatology clinics were reviewed and their demographics, ETT result, PFT, and echocardiogram data were collected at baseline, years 1, 3, 5, and 10. Patients were divided based on their ETT status and were compared with respect to each variable using a two-sided two-sample t test for continuous variables and a Fisher's exact test for categorical variables. RESULTS: 130 patients were identified with either limited cutaneous SSc (109) or diffuse cutaneous SSc (21) with a mean age of 52.65 years. The mean DLCO was statistically worse in abnormal ETT patients [p value = 0.0004] as were the progression rates per year for DLCO at - 2.25 (p value = 0.019). Progression rate of FVC per year was statistically significant in the abnormal ETT group, although the mean value was not. The number of patients with abnormal PASP was not statistically different between the two groups (p values 0.104, 0.178, 0.653 at baseline, years 3 and 5, respectively). CONCLUSION: The presence of esophageal dysmotility was associated with increased pulmonary involvement in the form of abnormal DLCO with worsening progression rates per year. There was no statistically significant difference in PASP and FVC between the two groups; however, the progression rate for FVC was worse in adjusted models.

Mapping systemic lupus erythematosus heterogeneity at the single-cell level.

Patients with systemic lupus erythematosus (SLE) display a complex blood transcriptome whose cellular origin is poorly resolved. Using single-cell RNA sequencing, we profiled ~276,000 peripheral blood mononuclear cells from 33 children with SLE with different degrees of disease activity and 11 matched controls. Increased expression of interferon-stimulated genes (ISGs) distinguished cells from children with SLE from healthy control cells. The high ISG expression signature (ISGhi) derived from a small number of transcriptionally defined subpopulations within major cell types, including monocytes, CD4+ and CD8+ T cells, natural killer cells, conventional and plasmacytoid dendritic cells, B cells and especially plasma cells. Expansion of unique subpopulations enriched in ISGs and/or in monogenic lupus-associated genes classified patients with the highest disease activity. Profiling of ~82,000 single peripheral blood mononuclear cells from adults with SLE confirmed the expansion of similar subpopulations in patients with the highest disease activity. This study lays the groundwork for resolving the origin of the SLE transcriptional signatures and the disease heterogeneity towards precision medicine applications.