SPM - Serviço de Pediatria Médica
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- Abordagem diagnóstica e terapêutica das bronquiolites - revisão bibliográficaPublication . Bandeira, A.; Vieira, C.; Gomes, L.; Reis, G.; Guedes, M.RESUMO As bronquiolites são um problema de saúde frequente e potencialmente grave nos lactentes. Representam uma das principais causas de internamento hospitalar nos meses de Outono e Inverno. Até à data não existem estudos controlados e randomizados a provar a eficácia da maioria das atitudes terapêuticas. Os broncodilatadores, a adrenalina e os corticóides têm sido usados no tratamento, sem evidência comprovada da sua eficácia. Os autores fazem uma revisão dos conceitos de bronquiolite e dos níveis de evidência das várias atitudes terapêuticas, apresentando uma proposta de abordagem diagnóstica e terapêutica de acordo com a gravidade da situação clínica.
- Alergia a fármacos na criançaPublication . Gomes, E.RESUMO As reacções alérgicas a fármacos fazem parte do universo mais alargado das reacções adversas a fármacos e a sua classificação implica a demonstração de um mecanismo imunológico especifico subjacente. Estas reacções são frequentes quer em adultos quer em idades pediátricas e acarretam morbilidade e mesmo mortalidade apreciável. A sua investigação, a ser realizada em meio hospitalar, assenta numa anamenese cuidadosa complementada por testes in vivo e ocasionalmente por testes in vitro. Só o estabelecimento de um diagnóstico correcto permite o aconselhamento do doente relativamente a futuras opções terapêuticas, evitando riscos de novas reacções e o uso indiscriminado de fármacos menos eficazes e mais dispendiosos. Esta investigação é também fundamental para o progresso na compreensão dos mecanismos fisiopatológicos envolvidos o que permitirá implementar melhores medidas preventivas.
- Asymmetric Elevation of the EyesPublication . Nascimento, J.; Pinto, F.
- Autologous stem cell transplantation in a patient with severe systemic sclerosisPublication . Vaz, C.; Almeida, I.; Guedes, M.; Rosário, C.; Branca, R.; Campilho, F.; Roncon, S.; Vasconcelos, C.; Campos, A.Systemic Sclerosis (SSc) is a chronic disease of the connective tissue, whose pathogenesis involves abnormalities of the immunological system. It has a variable course and there is a subgroup of patients with rapidly progressive disease or unresponsive to conventional treatment. Thesepatients can benefit from intensive immunosuppression and autologous hematopoietic stem cell transplant. Clinical case: 19-year-old (y.o.) woman diagnosed with SSc at the age of 13 y.o. with cutaneous, vascular and articular involvement with initial response to me thotrexate. Three years later the disease progressed with severe digestive involvement (dysphagia, delayed gastric emptying and weight loss) needing gastrostomy for nutritional support. She was treated with cyclophosphamide without improvement. In May 2012 she had an autologous transplant with myeloablative regimen (BEAM): carmustine 300 mg/m2 x1day; etoposide 120 mg/kg x4days; cytarabine 120 mg/kg 12/12:h x4days; melphalan 140 mg/m2 x1day. A year and a half after transplantation she is asymptomatic, without any signs or symptoms of the disease, feeds by mouth and the gastric emptying study is normal. Currently she is free of medication.
- Bilirubin is independently associated with oxidized LDL levels in young obese patientsPublication . Nascimento, H.; Alves, A.; Coimbra, S.; Catarino, C.; Gomes, D.; Bronze-da-Rocha, E.; Costa, E.; Rocha-Pereira, P.; Aires, L.; Mota, J.; Mansilha, H.; Rêgo, C.; Santos-Silva, A.; Belo, L.BACKGROUND: Bilirubin can prevent lipid oxidation in vitro, but the association in vivo with oxidized low-density lipoprotein (Ox-LDL) levels has been poorly explored. Our aim is to the association of Ox-LDL with total bilirubin (TB) levels and with variables related with metabolic syndrome and inflammation, in young obese individuals. FINDINGS: 125 obese patients (13.4 years; 53.6% females) were studied. TB, lipid profile including Ox-LDL, markers of glucose metabolism, and levels of C-reactive protein (CRP) and adiponectin were determined. Anthropometric data was also collected. In all patients, Ox-LDL correlated positively with BMI, total cholesterol, LDLc, triglycerides (TG), CRP, glucose, insulin and HOMAIR; while inversely with TB and HDLc/Total cholesterol ratio (P < 0.05 for all). In multiple linear regression analysis, LDLc, TG, HDLc and TB levels were significantly associated with Ox-LDL (standardized Beta: 0.656, 0.293, -0.283, -0.164, respectively; P < 0.01 for all). After removing TG and HDLc from the analysis, HOMAIR was included in the regression model. In this new model, LDLc remained the best predictor of Ox-LDL levels (β = 0.665, P < 0.001), followed by TB (β = -0.202, P = 0.002) and HOMAIR (β = 0.163, P = 0.010). CONCLUSIONS: Lower bilirubin levels may contribute to increased LDL oxidation in obese children and adolescents, predisposing to increased cardiovascular risk.
- Body fat percentage is a major determinant of total bilirubin independently of UGT1A1*28 polymorphism in young obesePublication . Belo, L.; Nascimento, H.; Kohlova, M.; Bronze-da-Rocha, E.; Fernandes, J.; Costa, E.; Catarino, C.; Aires, L.; Mansilha, H.; Rocha-Pereira, P.; Quintanilha, A.; Rêgo, C.; Santos-Silva, A.OBJECTIVES: Bilirubin has potential antioxidant and anti-inflammatory properties. The UGT1A1*28 polymorphism (TA repeats in the promoter region) is a major determinant of bilirubin levels and recent evidence suggests that raised adiposity may also be a contributing factor. We aimed to study the interaction between UGT1A1 polymorphism, hematological and anthropometric variables with total bilirubin levels in young individuals. METHODS: 350 obese (mean age of 11.6 years; 52% females) and 79 controls (mean age of 10.5 years; 59% females) were included. Total bilirubin and C-reactive protein (CRP) plasma levels, hemogram, anthropometric data and UGT1A1 polymorphism were determined. In a subgroup of 74 obese and 40 controls body composition was analyzed by dual-energy X-ray absorptiometry. RESULTS: The UGT1A1 genotype frequencies were 49.9%, 42.7% and 7.5% for 6/6, 6/7 and 7/7 genotypes, respectively. Patients with 7/7 genotype presented the highest total bilirubin levels, followed by 6/7 and 6/6 genotypes. Compared to controls, obese patients presented higher erythrocyte count, hematocrit, hemoglobin and CRP levels, but no differences in bilirubin or in UGT1A1 genotype distribution. Body fat percentage was inversely correlated with bilirubin in obese patients but not in controls. This inverse association was observed either in 6/7 or 6/6 genotype obese patients. UGT1A1 polymorphism and body fat percentage were the main factors affecting bilirubin levels within obese patients (linear regression analysis). CONCLUSION: In obese children and adolescents, body fat composition and UGT1A1 polymorphism are independent determinants of total bilirubin levels. Obese individuals with 6/6 UGT1A1 genotype and higher body fat mass may benefit from a closer clinical follow-up.
- Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Publication . Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, Rosário; de Brouwer, Arjan P. M.; Jacome, Ariana; Porto, Beatriz; Jorge, PaulaWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance. The full spectrum of the phenotype cannot be explained by any of the heterozygous variants on their own; thus, a synergic contribution is proposed. Complementation studies showed that the FANCG gene from the Fanconi Anaemia/BRCA (FA/BRCA) DNA repair pathway was impaired, indicating that the variant in FANCG contributes to the cellular phenotype. The patient's chromosome instability represents the first report where heterozygous variant(s) in the FA/BRCA pathway are implicated in the cellular phenotype. We propose that a multigenic contribution of heterozygous variants in HDAC8 and the FA/BRCA pathway might have a role in the phenotype of this neurodevelopmental disorder. The importance of these findings may have repercussion in the clinical management of other cases with a similar synergic contribution of heterozygous variants, allowing the establishment of new genotype-phenotype correlations and motivating the biochemical study of the underlying mechanisms.
- Cerebral vasculitis in Henoch‐Schönlein purpuraPublication . GONÇALVES, C.; FERREIRA, G.; MOTA, C.; VILARINHO, A.An Pediatr (Barc). 2004 Feb;60(2):188-9. [Cerebral vasculitis in Henoch-Schönlein purpura]. [Article in Spanish] Gonçalves C, Ferreira G, Mota C, Vilarinho A. PMID: 14757029 [PubMed - indexed for MEDLINE]
- Chronic granulomatous disease as a risk factor for cutaneous lupus in childhoodPublication . Carvalho, S.; Machado, S.; Sampaio, R.; Guedes, M.; Vasconcelos, J.; Semedo, D.; Selores, M.Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.
- Clinical and Genetic Analysis of Children with Kartagener SyndromePublication . Pereira, R.; Barbosa, T.; Gales, L.; Oliveira, E.; Santos, R.; Oliveira, J.; Sousa, M.Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.