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Objective: To decrease readmissions at 30 and 90 days post-discharge from a hospital admission for chronic obstructive pulmonary disease exacerbation (COPDE) through the home care model of the Ambulatory Chronic Respiratory Care Unit (ACRCU), increase patient survival at one year, and validate our readmission risk scale (RRS)., Materials and Methods: This was an observational study, with a prospective data collection and a retrospective data analysis. A total of 491 patients with a spirometry diagnosis of chronic obstructive pulmonary disease (COPD) requiring hospitalisation for an exacerbation were included in the study. Subjects recruited within the first year (204 cases) received conventional care (CC). In the following year a home care (HC) programme was implemented and of those recruited that year (287) 104 were included in the ACRCU, administered by a specialised nurse., Results: In the group of patients included in the home care model of the Ambulatory Chronic Respiratory Care Unit (ACRCU) a lower number of readmissions was observed at 30 and 90 days after discharge (30.5% vs. 50%, p  = 0.012 and 47.7% vs. 65.2%, p  = 0.031, respectively) and a greater one-year survival (85.3% vs. 59.1%, p  < 0.001). The validation of our RRS revealed that the tool's capacity to predict readmissions at both 30 and 90 days was not high (AUC = 0.69 and AUC = 0.66, respectively)., Conclusions: The inclusion of exacerbator or fragile COPD patients in the ACRCU could achieve a decrease in readmissions and an increase in survival. The number of episodes of exacerbation within the 12 months prior to the hospital admission is the variable that best predicts the risk of readmission., (© 2022 Sociedad Española de Neumología y Cirugía Torácica (SEPAR). Published by Elsevier España, S.L.U.)

Background: Preeclampsia (PE) is a frequently occurring multisystemic disease affecting ~5% of pregnancies. PE patients may develop HELLP syndrome (haemolysis, elevated liver enzymes, and low platelet), a mother and foetus life-threatening condition. Research into HELLP's genetic origin has been relatively unsuccessful, mainly because normal placental function and blood pressure regulation involve the fine-regulation of hundreds of genes., Objective: To identify new genes and mutations constituting potential biomarkers for HELLP syndrome., Study Design: The present case-control study involved whole-exome sequencing of 79 unrelated HELLP women. Candidate variants were screened in a control population constituted by 176 individuals. Stringent bioinformatics filters were used for selecting potentially etiological sequence variants in a subset of 487 genes. We used robust in silico mutation modelling for predicting the potential effect on protein structure., Results: We identified numerous sequence variants in genes related to angiogenesis/coagulation/blood pressure regulation, cell differentiation/communication/adhesion, cell cycle and transcriptional gene regulation, extracellular matrix biology, lipid metabolism and immunological response. Five sequence variants generated premature stop codons in genes playing an essential role in placental physiology (STOX1, PDGFD, IGF2, MMP1 and DNAH11). Six variants (ERAP1- p.Ile915Thr, ERAP2- p.Leu837Ser, COMT-p.His192Gln, CSAD-p.Pro418Ser, CDH1- p.Ala298Thr and CCR2-p.Met249Lys) led to destabilisation of protein structure as they had significant energy and residue interaction-related changes. We identified at least two mutations in 57% of patients, arguing in favour of a polygenic origin for the HELLP syndrome., Conclusion: Our results provide novel evidence regarding PE/HELLP's genetic origin, leading to new biomarkers, having potential clinical usefulness, being proposed., (Copyright © 2020 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.)

Anti-Jo-1 is the most frequently detectable antibody in the antisynthetase syndrome (ASSD), an autoimmune disease characterized by the occurrence of arthritis, myositis, and interstitial lung disease (ILD). Recently, we organized an international collaborative group called American and European NEtwork of Antisynthetase Syndrome (AENEAS) for the study of this rare and fascinating disease. The group collected and published one of the largest series of ASSD patients ever described and with one of the longer follow-up ever reported. The number of participating centers is steadily increasing, as well as the available cohort. In the first paper, we showed that arthritis, myositis, and ILD may be frequently the only feature at disease onset, raising problems to reach a correct diagnosis of this syndrome. Nevertheless, we first observed that the ex novo appearance of further manifestations is common during the follow-up, strengthening the importance of a correct diagnosis. In our cohort, the 24 % of the 243 patients up to now collected had isolated arthritis as a presenting feature. These patients represent the most intriguing group in terms of differential diagnosis and clinical time course. Furthermore, data on this aspect are scanty, the reason that lead us to evaluate these aspects in our cohort of patients, reviewing also available literature. In fact, the most relevant aspect is that ASSD is rarely suspected in this setting of patients, in particular in case of poliarticular involvement, positive rheumatoid factor (RF), or anti-cyclic citrullinated peptide antibodies (ACPA) or evidence of joint erosions at plain radiographs. These findings were not rare in our cohort, and they have been also described in other series. Furthermore, manifestations such as Raynaud's phenomenon, mechanic's hands, and fever that may lead to the suspect of ASSD are observed only in a third of cases. If we consider the high rate of clinical picture progression in these patients, we feel that ASSD should be carefully considered in all patients presenting with isolated arthritis, even in those with erosive, RF, and ACPA-positive arthritis.