Repositório Científico da Unidade Local de Saúde de Santo António
Repositório Científico da ULS Santo António
Entradas recentes
Real-world experience with brodalumab in a Portuguese cohort of patients with moderate-to-severe psoriasis
Publication . Torres, Tiago; Mendes-Bastos, Pedro; Antunes, Joana; Cruz, Maria João; Mota, Fernando; Ferreira, Paulo
Background: Brodalumab is a monoclonal antibody directed to the IL-17 receptor A, approved for the treatment of moderate-to-severe psoriasis. In phase III clinical trials, brodalumab showed clinical efficacy and a favourable safety profile. However, real-world data on brodalumab treatment are still limited. This study aimed to evaluate the real-world efficacy and safety of brodalumab treatment in a Portuguese population.
Methods: This is a retrospective, observational, multicentre study of patients with moderate-to-severe plaque-type psoriasis treated with brodalumab between January 2019 and August 2022. The follow-up period was 74 weeks. Brodalumab efficacy was accessed by the percentage of patients reaching the Psoriasis Area Severity Index (PASI) 75, 90 and 100 responses and by improvement in absolute PASI and Dermatology Life Quality Index (DLQI) scores. Drug survival of brodalumab treatment, causes of treatment discontinuation and adverse events were also reported.
Results: A total of 126 patients were included. Four weeks after treatment initiation, 83%, 57% and 29% of patients reached PASI 75, 90 and 100, respectively. These values increased to 96%, 93% and 66% at 74 weeks. A significant reduction in PASI score was observed after 4 weeks of brodalumab treatment and until week 74 (p<0.001). Quality of life measured by DLQI score significantly increased during the treatment period (p<0.001). Drug survival of brodalumab treatment was 82.5%, and secondary failure (8.5%) was the main reason for treatment discontinuation. The occurrence of adverse events was low and restricted to non-severe infectious.
Conclusion: This real-world data show that brodalumab is effective and safe for the treatment of moderate-to- severe psoriasis.
Nijmegen breakage syndrome: The importance of follow-up
Leite, Sara; Lemos, Cláudia; Dias, Rita; Faria, Raquel; Marques, Laura
Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.
Immunoglobulin A vasculitis (Henoch-Schönlein purpura) in children - A Literature Review
Sousa, Patrícia; de Oliveira, Susana Correia; Dias, Ângela; Tavares, Cláudia
Immunoglobulin A vasculitis (IgAV) is a small-vessel vasculitis that primarily affects children. Major manifestations include purpuric rash, proteinuria/hematuria, arthralgia, and abdominal pain. In this article, the authors review data on the epidemiology, diagnosis, and treatment of IgAV in children. IgAV affects 10 to 56 children per 100,000 per year. The mean age at presentation is six years. Both genetic and environmental factors contribute to its pathogenesis, but the deposition of immune complexes containing abnormal glycosylated immunoglobulin (Ig) A1 plays a predominant role. The course of the disease is usually benign and supportive care is sufficient. Short-term complications are mostly related to gastrointestinal involvement, including the risk of perforation and bleeding. Long-term morbidity is due to chronic kidney disease and hypertension. Corticosteroids are not recommended for prevention of renal involvement, but may be useful as a treatment strategy, as well as more aggressive immunosuppressive drugs.
Decoding the Human Genome
Rocha, Diogo Fernandes de; Rocha, Gustavo; Louro, Pedro
The neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?
Serotonin selective reuptake inhibitors and suicide risk in a Portuguese adolescent sample
Duarte, Nuno; Amaral, Sarah; Abrantes, Marta
Background: The adolescent population is at high risk for depressive disorders, and suicide is a leading cause of death in this age group worldwide. Selective serotonin reuptake inhibitors (SSRIs) remain the only approved pharmacological approach, despite concerns about suicidality.Objectives: This study aimed to understand the relationship between antidepressant use and suicidality in an adolescent population from an Adolescent Psychiatric unit in Lisbon, Portugal. Methods: A total of 296 medical reports of adolescent patients with depressive symptoms in psychiatric follow-up at the considered unit were reviewed. Two demographically and clinically similar samples were obtained, one exposed to SSRI treatment and one control group. Results: A risk of suicide attempt of 0.006 was found in the group exposed to SSRIs versus 0.025 in the control group, corresponding to a relative risk of suicidality of 0.248. This difference did not reach statistical significance, despite a Bayes factor of 4.57 and a Pearson’s r of -0.078. Conclusions: The study results suggest that SSRIs do not increase the risk of suicide attempt in adolescents with depressive symptoms.