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Browsing by Author "Maia, R"

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  • Antibiotics Utilization Ratio in a Nicu
    Publication . Rodrigues, V; Santos, S; Maia, R; Neto, MT; Serelha, M
    Introduction: Antibiotics are one of the most common prescribed drugs in the NICU; despite this, studies on its use are scarce. Aim: To assess antibiotics utilization ratio in a medical surgical NICU. Methods: Prospective, observational study. Daily registry of antibiotics given to newborn infants; two periods of two months, 2010; data collected every day after the second medical round. Variables: treated patients, days on antibiotics, treatment/patient days, number of courses, number of antibiotics. Antibiotics utilization ratio – ratio days on antibiotics/days at the NICU. Results: Patients enrolled - 113; admission days – 1722; length of stay - 15.2 days; 85 newborn infants were given antibiotics; days on antibiotics - 771; antibiotics utilization ratio – 44.8; 292 antibiotics were prescribed; 61.8% of patients were given more than two antibiotics and 15.3% had more than one course. The most frequents were gentamicin, cefotaxime, ampicillin, vancomycin and metronidazole. Conclusion: Antibiotics utilization ratio should be subject of audits and a quality criteria on NICUs evaluation.
    2011Lecture Open access Show more
  • Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ancestry Children With Sickle Cell Anemia
    Publication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, R; Kjöllerström, P; Faustino, P
    We investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
    2020Journal article Open access Show more
  • Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
    Publication . Costa e Castro, A; Maia, R; Batalha, S; Freixo, JP; Martins, C; Neves, C; Cordeiro, AI; Neves, JF
    DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
    2022Journal article Open access Show more
  • Cat-Scratch Disease With Bone Involvemnet
    Publication . Maia, R; Brito, MJ; Sousa, R; Gouveia, C
    Background: Bartonella henselae infection typically presents as a self-limiting regional lymphadenopathy. Bone involvement is a very rare form of the disease. Aims: To describe bone infection associated to cat-scratch disease (CSD) in a portuguese pediatric hospital. Methods: Clinical records of children admitted at the hospital with the diagnosis of CSD associated bone infection, during 2010, were reviewed. Diagnosis was confirmed by serology using indirect fluorescence assay and nucleic acid amplification from lymph node biopsy. Results: Two boys, 2 and 7 years old, were identified. One had prolonged fever and neck pain. MRI suggested D6-D9 osteomyelitis. Cultures were negative and Mycobacterium tuberculosis and Brucella infection were excluded. He was treated with gentamicin and cotrimoxazol, with clinical, but no significant image, improvement. The second child presented subacute sternoclavicular swelling and mildly enlarged axillary lymph nodes. Image studies revealed an osteolytic lesion of the clavicle and hypoechogenic splenic lesions. Histopathology of lymph node showed granulomatous adenitis and excluded malignancy. Therapy with azythromicin and rifampicin was successful. Both had contact with cats. Primary and secondary immunodeficiency was excluded. Conclusion: The optimal therapy for atypical Bartonella henselae infection is unknown and the role of antibiotics uncertain. Several combinations of antibiotics have been proposed for bone disease treatment, but recommendations are lacking. The different outcome in the presented cases could be related with the distinct therapeutic regimens used. Although atypical infection has classically been associated with immunodeficiency, this has not been the rule in bone disease and the need for extensive evaluation must be reviewed.
    2011Other Open access Show more
  • 2024Journal article Open access Show more
  • Estágio em Cuidados de Saúde Primários – A Opinião dos Internos de Pediatria
    Publication . Maia, R; Sassetti, L
    Introdução: O Estágio em Cuidados de Saúde Primários à Criança e ao Adolescente foi integrado no programa do Internato Complementar de Pediatria em 1996. Desde então, não foi revisto, apesar de vários aspectos relativos à sua realização suscitarem controvérsia. Objectivos: Conhecer a opinião dos internos relativamente ao estágio e, deste modo, contribuir para a revisão do programa de formação, em curso. Metodologia: Estudo transversal descritivo com aplicação de um questionário por via electrónica, aos internos de Pediatria e recém-especialistas, incidindo sobre três questões: parecer geral sobre o estágio actualmente preconizado, caracterização e opinião sobre o estágio realizado e perspectivas para o futuro. Resultados: Foram obtidas 68 respostas; 62/68 (91%) dos inquiridos concordam com a realização do estágio, mas 58/68 (85%) consideram-no demasiado longo e 18/68 (25%) pouco útil; 46/68 (68%) observaram crianças/adolescentes sem médico assistente atribuído e 36/68 (44%) consideram que o estágio foi maioritariamente não tutelado. Os aspectos positivos referidos foram a possibilidade de fazer a consulta de vigilância de forma longitudinal e de conhecer a realidade dos cuidados de saúde primários assim como o contacto com a saúde escolar e com a comunidade da criança. Os aspectos negativos incluíram a duração excessiva, a orientação inadequada, a ausência de um estágio estruturado e a má definição do papel do interno. Conclusões: O grau de insatisfação com o Estágio em Cuidados de Saúde Primários à Criança e ao Adolescente foi elevado, ficando clara a necessidade de instituir modificações relativamente à duração, programa e orientação do estágio. Com base nas opiniões dos inquiridos, é apresentado um conjunto de propostas para a reformulação do estágio.
    2012Journal article Open access Show more
  • Genetic Modulators of Fetal Hemoglobin Expression and Ischemic Stroke Occurrence in African Descendant Children With Sickle Cell Anemia
    Publication . Nicolau, M; Vargas, S; Silva, M; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Kjöllerström, P; Maia, R; Silva, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Faustino, P
    Sickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34 ± 4.57% versus 9.36 ± 6.48%; p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%; p < 0.001). In addition, our findings have confirmed the importance of HBG2 and BCL11A loci in the regulation of Hb F expression in sub-Saharan African SCA patients, as rs7482144_A, rs11886868_C, and rs4671393_A alleles are significantly associated with a considerable increase in Hb F levels (p = 0.019, p = 0.026, and p = 0.028, respectively). Concerning KLF1, twelve different variants were identified, two of them novel. Seventy-three patients (80.2%) presented at least one variant in this gene. However, no correlation was observed between the presence of these variants and Hb F level, severity of hemolysis, or stroke occurrence, which is consistent with their in silico-predicted minor functional consequences. Thus, we conclude that the prevalence of functional KLF1 variants in a sub-Saharan African background does not seem to be relevant to SCA clinical modulation.
    2019-12Journal article Open access Show more
  • Hidroxiureia (Hidroxicarbamida) na Doença de Células Falciformes
    Publication . Baeta Baptista, R; Maia, R; Batalha, S; Fernandes, RM; Kjöllerström, P
    2017Journal article Open access Show more
  • Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosis
    Publication . Bota, S; Alves, P; Constantino, C; Maia, R
    Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for Strongyloides stercoralis, extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.
    2019Journal article Open access Show more
  • Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell Disease
    Publication . Alcafache, M; Santos, S; Sassetti, M; Batalha, S; Maia, R; Lopes da Silva, R; Kjöllerström, P
    Mental nerve neuropathy is a peripheral sensory neuropathy, characterized by acute numbness of the chin area. It is a rare entity with diverse aetiology including, among others, local odontogenic causes and malignancy. In rare cases, it might be associated with sickle cell disease, due to the combined presence of hyperviscosity and the sinuous course of the mental nerve and artery through the mental foramen. The authors present the case of an adolescent girl with numb chin symptoms during a multifocal sickle cell crisis. The aim is to briefly review the causes of numb chin syndrome, emphasizing the differential diagnosis in sickle cell patients
    2018Journal article Open access Show more