Repositório da Unidade Local de Saúde São José

Institution's Scientific Repository

The Repository of the Local Health Unit of São José is constituted by São José Hospital, Sto. António dos Capuchos Hospital, Sta. Marta Hospital, Dona Estefânia Hospital, Curry Cabral Hospital, Júlio de Matos Hospital, Dr. Alfredo da Costa Maternity, the Dr. Gama Pinto Ophthalmology Institute, the Health Centres of Central Lisbon and the Health Centre of Sacavém. It was created within the RCAAP (Portugal Open Access Science Repository) project framework and it aims to digitally divulge the scientific knowledge produced by its professionals as well as to allow open access to all of the knowledge gathered, centralised, preserved and released, so as to give greater visibility and impact to the investigation developed by the Local Health Unit of São José.

Useful Links

Find more about the Open Access Policy of Unidade Local de Saúde de São José!

Tel HSJ +351 218 841 2 80 / 40

Tel HDE +351 213 596 4 34 / 36

Email repositorio@ulssjose.min-saude.pt

Recent Submissions

The Use of Continuous Glucose Monitoring in People Living with Obesity, Intermediate Hyperglycemia or Type 2 Diabetes.

Publication . Battelino, Tadej; Lalic, Nebojsa; Hussain, Sufyan; Ceriello, Antonio; Klobucar, Sanja; Davies, Sarah J; Topsever, Pinar; Heverly, Julie; Ulivi, Francesca; Brady, Kevin; Tankova, Tsvetalana; Galhardo, Júlia; Tagkalos, Kostas; Werson, Erik; Mathieu, Chantal; Schwarz, Peter

A global trend towards increased obesity, intermediate hyperglycemia (previously termed prediabetes) and type 2 diabetes, has prompted a range of international initiatives to proactively raise awareness and provide action-driven recommendations to prevent and manage these linked disease states. One approach, that has shown success in managing people already diagnosed with type 2 diabetes mellitus, is to use continuous glucose monitoring (CGM) devices to help them manage their chronic condition through understanding and treating their daily glucose fluctuations, in assocation with glucose-lowering medications, including insulin. However, much of the burden of type 2 diabetes mellitus is founded in the delayed detection both of type 2 diabetes mellitus itself, and the intermediate hyperglycemia that precedes it. In this review, we provide evidence that using CGM technology in people at-risk of intermediate hyperglycemia or type 2 diabetes mellitus can significantly improve the rate and timing of detection of dysglycemia. Earlier detection allows intervention, including through continued use of CGM to guide changes to diet and lifestyle, that can delay or prevent harmful progression of early dysglycemia. Although further research is needed to fully understand the cost-effectiveness of this intervention in people at-risk or with early dysglycemia, the proposition for use of CGM technology is clear.

2025-05Text

Open access

When a Child Refuses to Play: A Rare Myopathy.

Publication . Condessa, Luzia; Dias, Susana; Moura Antunes, Sofia; Martins, Mafalda; Madureira, Inês

Idiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.

2024-09Text

Open access

Official Development Assistance and Private Voluntary Support for Reproductive, Maternal, Neonatal, and Child Health in Guinea-Bissau: Assessing Trends and Effectiveness.

Publication . Casimiro, Anaxore; Branco, Joana; Maulide Cane, Réka; Andrade, Michel Jareski; Varandas, Luís; Craveiro, Isabel

Background: Reproductive, maternal, neonatal, and child health (RMNCH) remains a key priority for official development assistance and private voluntary assistance (ODA+) in low-income countries. In Guinea-Bissau, maternal and child mortality rates remain high, with the healthcare system heavily dependent on foreign aid. This study analyzes ODA+ trends for RMNCH in Guinea-Bissau from 2002 to 2018 and assesses its impact on maternal, neonatal, infsupplent, and under-five mortality rates. Methods: We used data from the OECD Creditor Reporting System and applied the Muskoka2 methodology to estimate RMNCH-related disbursements. Funding trends were categorized by donor type and RMNCH subsectors. A longitudinal analysis used regression models to assess the relationship between aid categories and mortality outcomes. Results: RMNCH funding accounted for 8.9% of total ODA+ to Guinea-Bissau, with most aid directed toward child health. Models revealed a negative association between child health funding and under-five and infant mortality, while reproductive health funding showed no significant correlation with maternal or neonatal mortality. Conclusions: Although variable, ODA+ for RMNCH in Guinea-Bissau has helped reduce child mortality. However, maternal and neonatal mortality require targeted interventions and improved coordination. Fluctuating aid disbursements emphasize the need for sustainable health financing and stronger donor alignment with national priorities.

2025-05-30Text

Open access

Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from GATA2 Deficiency

Publication . Kotmayer, Lili; Kozyra, Emilia J; Kang, Guolian; Strahm, Brigitte; Yoshimi, Ayami; Sahoo, Sushree S; Pastor, Victor B; Attardi, Enrico; Voss, Rebecca; Vinci, Luca; Kaiser, Max; Dworzak, Michael N; De Moerloose, Barbara; Sukova, Martina; Starý, Jan; Hasle, Henrik; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kállay, Krisztián; Smith, Owen P; Malone, Andrea; Barzilai Birenboim, Shlomit; Masetti, Riccardo; Buechner, Jochen; Ussowicz, Marek; Kjöllerström, Paula; Bodova, Ivana; Kavcic, Marko; Català, Albert; Turkiewicz, Dominik; Schmugge, Markus; de Haas, Valerie; Okhomina, Victoria I; Sotomayor, Cristian; Catalán, Paula; Wehr, Claudia; Salzer, Ulrich; Germing, Ulrich; Gattermann, Norbert; Bödör, Csaba; Gray, Nathan; Lewis, Sara; Shimamura, Akiko; Giorgetti, Alessandra; Erlacher, Miriam; Niemeyer, Charlotte M; Wlodarski, Marcin W

GATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency.

2025-07-15Text

Open access

Metabolism-Targeted Therapy in NSCLC - A New Theranostics Inhalation Approach Using Lactate Functionalized and Selenium-Chrysin Loaded Nanoparticles (SeChry@PURE-LA).

Publication . Mendes, Cindy; Martins, Filipa; Granja, Sara; Gonçalves, Joana; Barros, Hélio; Casimiro, Teresa; Aguiar-Ricardo, Ana; Silva, Fernanda; Abreu, Bruna; Cristovão, Miguel; André, Saudade; Pereira, Sofia A; Baltazar, Fátima; Cabral-Marques, Helena; Gaspar, Maria Manuela; Gonçalves, Luís G; Bonifácio, Vasco D B; Serpa, Jacinta

Lung cancer is one of the most lethal cancers globally, primarily due to delayed diagnosis and lack of specific and effective therapy. Increased lactate production and consumption, along with cysteine metabolic reliance, are features identified in NSCLC in our recent studies. Cancer metabolic remodeling leads to excessive ROS production, triggering oxidative stress, promoting angiogenesis, causing cellular and tissue damage, and contributing to various pathophysiological changes. This study aimed to investigate the therapeutic potential of selenium-chrysin (SeChry), a cysteine metabolism inhibitor, and its delivery targeted at MCT1 by encapsulation in fourth-generation polyurea dendrimers functionalized with lactic acid (PURE-LA), the nanoformulation SeChry@PURE-LA, in NSCLC. We explored the impact of SeChry nanoformulation on cell death mechanisms, including ferroptosis, and its influence on angiogenesis in in vitro and in vivo models. SeChry@PURE-LA induces cell death through the induction of intracellular ROS and lipid peroxides, resulting in distinct expression patterns of ferroptosis-associated genes across cell lines. Experiments using chicken embryo chorioallantoic membrane (CAM) and mouse orthotopic xenograft models revealed a trend toward decreased tumor growth and angiogenesis with SeChry@PURE-LA administration. These findings suggest the potential of SeChry@PURE-LA as an innovative therapeutic approach for NSCLC, highlighting its impact on cell death mechanisms and anti-angiogenic effects.

2025-09Text

Open access