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- An introduction to BASIC Guide: human biomonitoring and surveillance of chemical exposure in occupational settingsPublication . Zare Jeddi, Maryam; Jones, Kate; Leese, Elizabeth; Fustinoni, Silvia; Galea, Karen S.; Santonen, Tiina; Porras, Simo P.; Hopf, Nancy B.; Göen, Thomas; Bader, Michael; Tranfo, Giovanna; Tristram, Adrian; Iavicoli, Ivo; Leso, Veruscka; Koch, Holger M.; Pasanen-Kase, Robert; Boogaard, Peter J.; Persoons, Renaud; Esteban-López, Marta; Verpaele, Steven; Kasiotis, Konstantinos M.; Machera, Kyriaki; Carrieri, Mariella; Palmen, Nicole; Duca, Radu-Corneliu; van Nieuwenhuyse, An; Gonzales, Melissa; Haynes, Erin N.; Viegas, Susana; Bessems, Jos; Makris, Konstantinos C.; Connolly, Alison; Teixeira, João Paulo; Chung, Ming Kei; Parsons, Patrick J.; Kumar, Eva; Lin, Elizabeth Ziying; Kil, Jihyon; Kwon, Jung-Hwan; Tavares, Ana Maria; Vekic, Ana Maria; Souza, Gustavo; Scheepers, Paul T. J.Human biomonitoring (HBM) complements air and surface measurements by integrating exposure from all routes and sources, strengthening occupational exposure assessment and control. In occupational settings, HBM can quantify exposure during routine work and nonroutine activities, evaluate controls, investigate incidents (potential overexposures), and support medical surveillance. To use HBM to its full potential, occupational health and safety professionals (OHPs) should adopt harmonized biomonitoring approaches reflecting best practice. This short communication presents the BASIC Guide series (Human Biomonitoring and Surveillance of Chemical Exposure in Occupational Settings), initiated by the International Society of Exposure Science Human Biomonitoring working group (ISES Europe HBM WG) as an integral part of the HBM Global Network. These chemical-specific practical documents operationalize the OECD (Organisation for Economic Co-operation and Development) occupational biomonitoring guidance, supporting the consistent implementation of exposure biomonitoring programs. Each BASIC Guide provides clear instructions on biomarker selection, sample handling, analytical methods, quality assurance, and result interpretation and communication. By translating international frameworks into actionable protocols, the BASIC Guides improve reproducibility and regulatory alignment in occupational HBM and enable more defensible exposure assessments worldwide.
- ERS Congress 2024: highlights from the Respiratory Infections AssemblyPublication . Jonckheere, Leander; Papadopoulou, Efthymia; Piedepalumbo, Federica; Akkerman, Onno W.; Duarte, Raquel; Premuda, ChiaraExtract: The 2024 European Respiratory Society (ERS) Congress in Vienna, Austria, brought together leading experts worldwide to address some of the most pressing challenges in respiratory medicine. In the field of respiratory infections, the congress highlighted notable advancements, particularly regarding pulmonary aspergillosis, tuberculosis (TB) and cystic fibrosis (CF), reflecting the rapidly evolving landscape in this area. This article aims to provide an overview of the key highlights from the congress in the field of respiratory infections, offering insights into the latest research, treatment innovations and ongoing challenges in managing these complex respiratory diseases.
- A multinational Delphi consensus on tuberculosis screening of migrants in EuropePublication . Pinheiro, Marina; Aguiar, Ana; Moreira, David N.; Akkerman, Onno W.; Al-Suwaidi, Zubaida; Alffenaar, Jan-Willem C.; Arandjelović, Irena; Brito, Ulisses; de Colombani, Pierpaolo; Curcic, Radmila; Garcia-Basteiro, Alberto L.; Goletti, Delia; Günther, Gunar; Ibraim, Elmira; Kapata, Nathan; Lange, Christoph; Lipman, Marc; Jankovic Makek, Mateja; Marais, Ben J.; Mariandyshev, Andrei; Magis-Escurra, Cecile; Migliori, Giovanni Battista; Sánchez Montalvá, Adrián; Nanovic, Zorica; Palmero, Domingo Juan; Priwitzer, Martin; Raviglione, Mario C. B.; Silva, Denise Rossato; Salzer, Helmut J.F.; Schwarzbach, Christian; Spruijt, Ineke; Winthrop, Kevin L.; Udwadia, Zarir; Vasankari, Tuula; Vilaplana, Cristina; Duarte, RaquelThe disproportionate burden of tuberculosis among migrants in the World Health Organization (WHO) European Region underscores the urgent need to address the public health challenges associated with global migration. Recommendations for screening of pulmonary tuberculosis (TB) and TB infection (TBI) are highly variable across European countries, highlighting the need for standardised practices and coordinated efforts to reduce TB risk more effectively. This study aims to produce a harmonised set of recommendations to contribute to elaboration for policy action using the Delphi method. It brings together a multidisciplinary panel of 33 TB experts from academia, healthcare, non-governmental organisations and government agencies across 22 countries to formulate consensus-based recommendations. The panel created 19 consensus statements and 36 recommendations for governments, health systems and other stakeholders. The recommendations span four key domains: 1) policy, 2) health systems and health professionals, 3) screening procedures and priority populations and 4) continued treatment and care. This study recommends a unified, evidence-based approach to TB screening in migrants, with free access to diagnosis and treatment, culturally sensitive care, use of digital tools and coordinated efforts across health systems to ensure effective and equitable TB control in Europe. Thus, the experts emphasised key recommendations that strike a balance between immediate health system interventions, screening procedures and cultural inclusivity to more effectively address TB among migrants. The findings of this study offer actionable policies to address gaps and weaknesses in Europe's response to tuberculosis among migrants, advancing efforts to eliminate TB as a public health threat.
- Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1Publication . Marchante Pita, Rita; Amaral, Raquel; Vilarinho, Laura; Diogo, Luísa; Gonçalves, Isabel; Nobre, SusanaMEGDHEL syndrome, caused by a gene defect, is clinically defined as the association of 3-MGA-uria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like features (L). Clinical presentation typically begins in the neonatal period, with neurological symptoms becoming more evident by 2 years of age. Severe liver involvement has also been reported. We report the case of a 3-year-old boy with increased transaminases and failure to thrive of unknown cause. He was born prematurely at 35 weeks and needed neonatal intensive care support for 24 h due to transient tachypnea. At 18 months, laboratory investigations for failure to thrive revealed elevated transaminases without cholestasis, which persisted on subsequent evaluations. Abdominal wall collateral veins were found during physical examination, and the liver ultrasound revealed steatosis, prompting the decision to proceed with a liver biopsy. Common causes of chronic liver disease were ruled out. Following liver biopsy, performed under general anesthesia, he had an episode of unexplained decompensation (metabolic acidosis, hyperlactatemia, and 3-methylglutaconic aciduria). The aciduria persisted upon subsequent evaluation. Liver histology showed macro/microvesicular steatosis (25%), portal tract inflammation, and mild fibrosis. Cardiac evaluation, along with brain magnetic resonance imaging and spectroscopy, was normal. Further investigations revealed decreased hepatic activity of respiratory mitochondrial chain complexes and marginal mtDNA depletion (28.1%). Analysis of the gene showed homozygosity for p.Y259* (c.777T>G, exon 9). This case report raises awareness for an atypical presentation of MEGDHEL syndrome associated with a homozygous nonsense variant of SERAC1 clinically characterized by mild hypertransaminasemia, failure to thrive, no neurological involvement, and starting in early childhood rather than infancy.
- Safety, Efficacy, and Pharmacokinetics of Daily Optimized Doses of Rifampicin for the Treatment of Tuberculosis: A Systematic Review and Bayesian Network Meta-AnalysisPublication . Espinosa-Pereiro, Juan; Aguiar, Ana; Nara, Eva; Medina, Angelica; Molinas, Gladys; Tavares, Margarida; Tortola, Teresa; Ghimire, Samiksha; Alfenaar, Jan-Willem C.; Sturkenboom, Marieke G.G.; Magis-Escurra, Cecile; Sánchez-Montalva, Adrián; Barros, Henrique; Duarte, RaquelBackground: Higher than standard doses of rifampicin could improve the treatment outcome of drug-susceptible tuberculosis (TB) without compromising the safety of patients. Methods: We performed a systematic review of prospective clinical studies including adults with pulmonary and extrapulmonary TB receiving rifampicin doses above 10 mg/kg/day. We extracted the data on overall adverse events (AE), hepatic AE, sputum culture conversion (SCC) at week 8, recurrence, mortality, and pharmacokinetics. We performed a Bayesian network meta-analysis (NMA) using a random-effects model. Results: In 19 studies, 2033 out of 3654 participants received rifampicin doses higher than 10 mg/kg/day. The NMA showed an increased risk of overall and hepatic AE for the 40 mg/kg/day dose (risk ratio [RR] 4.8, 95% credibility interval [CrI]: 1.1, 25, and 15.00; 95% CrI: 1.1, 58.0, respectively), but no other doses, including 50 mg/kg/day showed such an increase. Increasing doses improved sputum culture conversion at week 8 (RR 1.3, 95% CrI: 1.1, 1.7 for SCC with 35 mg/kg/day). Conclusions: Optimal doses of rifampicin may be between 25 and 35 mg/kg/day, but should be tailored at the individual or, at least, at the population level.
- A 30-year experience in neuro-Behçet diseasePublication . Silva, Lénia; Silva, Isabel Fonseca; Fonseca, Tomás; Pinto, Luísa Serpa; Leal, Bárbara; Pinho e Costa, Paulo; Igreja, Liliana; Moreira, Bruno; Santos, Ernestina; Vasconcelos, Carlos; Marinho, António; Correia, João AraújoBackground: Behçet disease (BD) is a systemic vasculitis affecting multiple organs with a wide range of severity. Neuro-Behçet (NBD) is a severe form, characterized by high morbidity, disability, and mortality rates. Methods: Retrospective analysis (1993-2023) of neurological involvement in BD patients at a tertiary center. Results: Of 296 BD patients, 93(31.4 %) underwent neurological evaluation. Definite NBD was identified in 30(10.1 %), probable NBD in 2(0.5 %) and "other neurological symptoms in BD" in 26(8.6 %) patients. The definite NBD group (median age: 36 years, 50 % female) had 44 neurological attacks: 24(55 %) parenchymatous and 20(45 %) non-parenchymatous. The most common syndromes were brainstem (27.3 %) and multifocal (25.6 %), with ataxia being the most frequent sign (40.9 %). One-third had a relapsing course. NBD onset concurred with BD diagnosis in 50 % of cases, followed in 30 %, and preceded in 20 %. Brain MRI revealed predominant involvement of the brainstem and diencephalic regions. The HLA-B*51 allele was more prevalent in definite NBD versus BD patients (53.8 % vs 31.2 %, p = 0.036). Treatments included corticosteroids (70.5 %), cyclophosphamide (15.9 %), infliximab (9.1 %), and conventional synthetic disease-modifying antirheumatic drugs (13.6 %). Better outcomes were achieved with cyclophosphamide and infliximab. The probable NBD and "other neurological symptoms in BD" groups (median age: 37 years) were mostly female (92.9 %). Headache (85 %) and cognitive complaints (23 %) were common symptoms.
- The Human Microglia Atlas (HuMicA) unravels changes in disease-associated microglia subsets across neurodegenerative conditionsPublication . Martins-Ferreira, Ricardo; Calafell-Segura, Josep; Leal, Bárbara; Rodríguez-Ubreva, Javier; Martínez-Saez, Elena; Mereu, Elisabetta; Pinho e Costa, Paulo; Laguna, Ariadna; Ballestar, EstebanDysregulated microglia activation, leading to neuroinflammation, is crucial in neurodegenerative disease development and progression. We constructed an atlas of human brain immune cells by integrating nineteen single-nucleus RNA-seq and single-cell RNA-seq datasets from multiple neurodegenerative conditions, comprising 241 samples from patients with Alzheimer's disease, autism spectrum disorder, epilepsy, multiple sclerosis, Lewy body diseases, COVID-19, and healthy controls. The integrated Human Microglia Atlas (HuMicA) included 90,716 nuclei/cells and revealed nine populations distributed across all conditions. We identified four subtypes of disease-associated microglia and disease-inflammatory macrophages, recently described in mice, and shown here to be prevalent in human tissue. The high versatility of microglia is evident through changes in subset distribution across various pathologies, suggesting their contribution in shaping pathological phenotypes. A GPNMB-high subpopulation was expanded in AD and MS. In situ hybridization corroborated this increase in AD, opening the question on the relevance of this population in other pathologies.
- Exploring perspectives on the benefits of a tuberculosis short-treatment regimen: a cross-sectional study on treatment experiences and perceptionsPublication . Silva, Fernando Pereira da; Ramos, João Pedro; Barbosa, Pedro; Vieira, Mariana; Duarte, RaquelNo abstract available.
- Distinct exercise modalities on GUT microbiome in sarcopenic older adults: study protocol of a pilot randomized controlled trialPublication . Merelim, Ana Sofia; Zacca, Rodrigo; Moreira-Gonçalves, Daniel; Costa, Paulo P.; C. Baptista, LilianaBackground: Sarcopenia is a progressive and age-related skeletal muscle disease related to adverse health outcomes and to an increased economic burden. Recent evidence pinpoints the human gut microbiota (GM) as a contributing factor in the development of sarcopenia via the gut-muscle axis. To date, no study specifically analyzed the optimal type of exercise modality in older adults with sarcopenia considering the impact of GM composition in skeletal muscle mass and function. Therefore, the DEMGUTS study intents to explore the impact of three different exercise regimens on GM composition and gut-derived metabolites in older adults with sarcopenia. Methods:: This pilot single center three-arm parallel open-label randomized control trial (RCT) will randomly assign eligible participants to: (i) moderate aerobic exercise (AER); (ii) resistance exercise (RES); or (iii) concurrent exercise training (RES + AER). Participants will engage in a supervised center-based exercise intervention (12-weeks, 3 d/week, 60 min/d), and will be assessed at (i) baseline, (ii) end of intervention (14 weeks), and (iii) at close-out (26-weeks). The primary outcome will be the change in the relative abundance of Faecalibacterium prausnitzi and other short-chain fatty acid producing bacteria after the intervention (14-weeks). A set of complementary outcomes will also be assessed to broadly characterize the impact of each exercise intervention on body composition, skeletal muscle function, functional performance and general GM composition. Conclusion: Unraveling the impact of these exercise regimens on GM is crucial to help clarify the optimal exercise modality to manage sarcopenia disease, contributing to clinical guidance and enhancing exercise prescription in older adults with sarcopenia. Clinical trial registration identifier NCT06545123
- Reply to Wilson: The 4-Month Isoniazid, Rifapentine, Moxifloxacin, and Pyrazinamide Treatment Regimen for Drug-Susceptible Pulmonary Tuberculosis: A Word of CautionPublication . Saukkonen, Jussi; Munsiff, Sonal; Winston, Carla; Duarte, Raquel; Mammen, ManojNo abstract available