Update on bioagent therapy in sarcoidosis

Corticosteroids are still the cornerstone of treatment for patients with sarcoidosis requiring systemic therapy. However, alternative agents and especially methotrexate may be considered for patients with refractory disease or requiring prolonged treatment with intolerable side effects. Although bioagent therapies have hitherto not clearly demonstrated superior efficacy and safety over corticosteroids in pulmonary sarcoidosis, infliximab may modestly improve lung function in patients with active disease resistant to steroids. Further studies will be needed to assess both safety and efficacy of infliximab in pulmonary sarcoidosis. Infliximab may be considered in a limited number of patients with severe extrapulmonary systemic manifestations of sarcoidosis, with careful individual evaluation of the risk-benefit ratio

Anomalous metallic state in quasi-two-dimensional BaNiS2_{2}

We report on a systematic study of the thermodynamic, electronic and charge transport properties of high-quality single crystals of BaNiS$_2$, the metallic end-member of the quasi-twodimensional BaCo$_{1-x}$Ni$_x$S$_2$ system characterized by a metal-insulator transition at $x_{cr}=0.22$. Our analysis of magnetoresistivity and specific heat data consistently suggests a picture of compensated semimetal with two hole- and one electron-bands, where electron-phonon scattering dominates charge transport and the minority holes exhibit, below $\sim$100 K, a very large mobility, $\mu_h\sim$ 15000 cm$^2$V$^{-1}$s$^{-1}$, which is explained by a Dirac-like band. Evidence of unconventional metallic properties is given by an intriguing crossover of the resistivity from a Bloch-Gr\"uneisen regime to a linear$-T$ regime occurring at 2 K and by a strong linear term in the paramagnetic susceptibility above 100 K. We discuss the possibility that these anomalies reflect a departure from conventional Fermi-liquid properties in presence of short-range AF fluctuations and of a large Hund coupling.Comment: 21 pages 9 figures (colors

Centrilobular emphysema combined with pulmonary fibrosis results in improved survival: a response

Better survival in combined pulmonary fibrosis and emphysema than in lone pulmonary fibrosis: bias or reality? A response to Centrilobular emphysema combined with pulmonary fibrosis results in improved survival by Todd et al., Fibrogenesis & Tissue Repair 2011, 4:6

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Manifestación rara; Tosca; Complejo de esclerosis tuberosaManifestació rara; Tosca; Complex d'esclerosi tuberosaRare manifestation; Tosca; Tuberous sclerosis complexBackground Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential association of TSC with malignant tumors. In this study we sought to characterize rare manifestations and malignancies using a large cohort of patients. Methods TuberOus SClerosis registry to increAse disease awareness (TOSCA) is a multicenter, international disease registry collecting clinical manifestations and characteristics of patients with TSC, both retrospectively and prospectively. We report rates and characteristics of rare manifestations and malignancies in patients with TSC who had enrolled in the TOSCA registry. We also examined these manifestations by age, sex, and genotype (TSC1 or TSC2). Results Overall, 2211 patients with TSC were enrolled in the study. Rare manifestations were reported in 382 (17.3%) study participants and malignancies in 65 (2.9%). Of these rare manifestations, the most frequent were bone sclerotic foci (39.5%), scoliosis (23%), thyroid adenoma (5.5%), adrenal angiomyolipoma (4.5%), hemihypertrophy and pancreatic neuroendocrine tumors (pNET; both 3.1%). These rare manifestations were more commonly observed in adults than children (66.2% vs. 22.7%), in females versus males (58.4% vs. 41.6%; except for scoliosis: 48.9% vs. 51.1%), and in those with TSC2 versus TSC1 (67.0% vs. 21.1%; except for thyroid adenoma: 42.9% vs. 57.1%). In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals < 40 years. TSC1 mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%). Conclusion Rare manifestations were observed in a significant proportion of individuals with TSC. We recommend further examination of rare manifestations in TSC. Collectively, malignancies were infrequent findings in our cohort. However, compared to the general population, malignant tumors occurred earlier in age and some tumor types were more common.The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

TOSCA; Epilepsia; RegistroTOSCA; Epilèpsia; RegistreTOSCA; Epilepsy; RegistryBackground: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Sclerosis registry to increase disease Awareness (TOSCA) on changes in patterns of epilepsy diagnosis, treatments, and outcomes over time, and detailed epilepsy characteristics from the epilepsy substudy. Methods: TuberOus Sclerosis registry to increase disease Awareness (TOSCA) was a multicentre, international disease registry, consisting of a main study that collected data on overall diagnostic characteristics and associated clinical features, and six substudies focusing on specific TSC manifestations. The epilepsy substudy investigated detailed epilepsy characteristics and their correlation to genotype and intelligence quotient (IQ). Results: Epilepsy was reported in 85% of participants, more commonly in younger individuals (67.8% in 1970s to 91.8% in last decade), while rate of treatments was similar across ages (>93% for both infantile spasms and focal seizures, except prior to 1960). Vigabatrin (VGB) was the most commonly used antiepileptic drugs (AEDs). Individuals with infantile spasms showed a higher treatment response over time with lower usage of steroids. Individuals with focal seizures reported similar rates of drug resistance (32.5–43.3%). Use of vagus nerve stimulation (VNS), ketogenic diet, and surgery remained low. Discussion: The epilepsy substudy included 162 individuals from nine countries. At epilepsy onset, most individuals with infantile spasms (73.2%) and focal seizures (74.5%) received monotherapies. Vigabatrin was first-line treatment in 45% of individuals with infantile spasms. Changes in initial AEDs were commonly reported due to inadequate efficacy. TSC1 mutations were associated with less severe epilepsy phenotypes and more individuals with normal IQ. In individuals with TSC diagnosis before seizure onset, electroencephalogram (EEG) was performed prior to seizures in only 12.5 and 25% of subsequent infantile spasms and focal seizures, respectively. Conclusions: Our study confirms the high prevalence of epilepsy in TSC individuals and less severe phenotypes with TSC1 mutations. Vigabatrin improved the outcome of infantile spasms and should be used as first-line treatment. There is, however, still a need for improving therapies in focal seizures. Electroencephalogram follow-up prior to seizure-onset should be promoted for all infants with TSC in order to facilitate preventive or early treatment.The study was funded by Novartis Pharma AG. Novartis has contributed to study design, data analysis and the decision to publish. Novartis authors reviewed the draft for submission

Management and attitudes about IPF (Idiopathic Pulmonary Fibrosis) among physicians from Latin America

Background: The aim of our study was to assess current practice patterns and attitudes towards diagnosis and management of idiopathic pulmonary fibrosis (IPF) patients in Latin America. Methods: A Cross-sectional survey was developed and up to 455 physicians were enrolled. We used a rigorous method of validation using the translated version of the AIR Survey. Results: Mean age was 47.5 years (SD 12.6) with 20.4 years (SD 12.3) of practice. In around 30% of physicians were reported access to radiologist, pathologist and multidisciplinary team. Despite almost all physicians reported that (ATS/ERS/JRS/ALAT) guidelines are useful, half of them prescribed corticoids for treatment of disease. Most respondents (69.9%) reported cough as the presenting symptom. Around 80% considered IPF to be an important clinical disorder, and felt that identifying patients at risk for IPF was important or extremely important. However, only 59.7% felt confident in managing patients with IPF, and similar numbers (60.8%) felt confident about their knowledge. Pulmonologist have more confidence and management of IPF that no pulmonologist. Conclusion: The results of this survey of Latin American physicians could help to fill gaps regarding awareness, management and treatment of IPF and improve earlier diagnosis of IPF

European Respiratory Society International Congress 2021: Highlights from best-abstract awardees

This article provides an overview of some of the highlights of the @EuroRespSoc Congress 2021 from the perspective of the best-abstract awardees of the ERS Assembliesinfo:eu-repo/semantics/publishedVersio

European respiratory society international congress 2021: Highlights from best-abstract awardees

This article provides an overview of some of the highlights of the @EuroRespSoc Congress 2021 from the perspective of the best-abstract awardees of the ERS Assemblies @EarlyCareerERS @OrphaLung https://bit.ly/3JCjHYS Every year, the European Respiratory Society (ERS) offers grants to recognise the best overall abstracts of the 14 ERS Assemblies submitted for the ERS International Congress, covering all respiratory areas. The authors of the best abstract (i.e. the highest average score of abstract reviewers and only those who have not applied or were not eligible for a sponsored award) were invited to write a short summary about their virtual Congress experience and view on the evolving field of research in light of their respective Assembly. This article provides an overview of some of the Congress highlights and gives the stage to the promising best-abstract awardees as they are the future of the ERS

European Respiratory Society International Congress 2021: highlights from best-abstract awardees

Support statement: J. De Brandt is funded by the Flemish government. The Research of FWO (Research Foundation - Flanders) Aspirant J. De Brandt is sponsored by FWO-grant #11B4718N.Every year, the European Respiratory Society (ERS) offers grants to recognise the best overall abstracts of the 14 ERS Assemblies submitted for the ERS International Congress, covering all respiratory areas. The authors of the best abstract (i.e. the highest average score of abstract reviewers and only those who have not applied or were not eligible for a sponsored award) were invited to write a short summary about their virtual Congress experience and view on the evolving field of research in light of their respective Assembly. This article provides an overview of some of the Congress highlights and gives the stage to the promising best-abstract awardees as they are the future of the ERS.info:eu-repo/semantics/publishedVersio

Clinical highlights from the 2011 ERS Congress in Amsterdam

This article reports on selected papers pertinent to the most important clinical problems in the field of respiratory medicine. Expert authors from the Clinical Assembly of the European Respiratory Society (ERS) have selected updated reports related to presentations given at the 2011 ERS Annual Congress, which was held in Amsterdam (the Netherlands) and attended by more than 20,000 participants. The hot topics and selected abstracts from the scientific groups of the Clinical Assembly are discussed here in the context of recent literature