Encontrados 17 documentos, a visualizar página 1 de 2
Abordagem da má evolução ponderal
Tavares, M.; Matos, I.; Bandeira, A.; Guedes, M.RESUMO Introdução: A má evolução ponderal encontra-se entre um dos motivos mais frequentes de referenciação à consulta de Pediatria. As dificuldades encontradas na definição desta entidade e as diferentes abordagens desta situação tornam difícil uma homogeneização de critérios e atitudes. Objetivo: Orientar a abordagem e seguimento das crianças com má evolução ponderal. Métodos: Revisão de artigos pertinentes p...
Genes, crianças e pediatras: Doença de Menkes
Correia, J.; Rios, M.; Ferreira, P.; Martins, E.; Bandeira, A.A male newborn, presenting hipotonia and posterior parietal bossing, developed, in the first 12 hours of life, refusal to feed and hypoglycaemia. A cranial ultrasound, skull X-ray and CT scan revealed an occipital and parietal fracture with an underlying haematoma and extensive extracranial soft-tissue swelling. He was submitted to surgical drainage. After 24 hours: new intracerebral bleeding. At the age of two...
Genes, crianças e pediatras: homocistinúria clássica
Martins, E.; Oliveira, T.; Bandeira, A.ABSTRACT Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.
Genes, crianças e pediatras: Associação VACTERL e doença mitocondrial
Cardoso, C.; Bandeira, A.; Martins, M.; Martins, E.VACTERL association is characterized for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In this patient we found a also a poor weight gain and microcephaly associated with normochromic and normocytic, anemia, uncontrolled glycemia (hypoglycemia and hyperglycemia) and glycosuria with tubulopathy, nephrotic proteinuria and metabolic acidosis ...
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of ...
Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.Methionine adenosyltransferase deficienc(MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families. During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hyp...
Lime based mortars for ceramic tile application: the influence of the lime, the...
Faria, Paulina; Silva, Vitor; Grilo, J.; Bandeira, A.; Branco, T.; Mergulhão, D.Intern.Conference AZULEJAR, Univ. Aveiro, 10-12 October 2012 ; Bearing in mind the need to repair ceramic tile facade, that were traditionally applied by a lime-based mortar, an experimental campaign was held in order to characterize over time mortars made with two types of lime - an air lime EN 459-1 CL90-S and a recently classified EN 459-1 NHL3.5. The influence of different binder: aggregate proportions on ...
Genes, crianças e pediatras: defeito congénito da glicosilação
Bandeira, A.; Mota, C.; Quelhas, D.; Loureiro, M.; Martins, E.A 14 month-old boy presented with failure to thrive and severe mental and motor development delay. On physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. He also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with pericardial effusion, raised transaminases, funct...
Genes, crianças e pediatras: síndrome de Berardinelli-Seip
Bandeira, A.; Cunha, S.; Álvares, S.; Martins, E.ABSTRACT A 13 years old boy presented an abnormal habitus since birth with generalized paucity of fat, muscular overdevelopment and hepatomegaly. Laboratory tests revealed increased triglycerides. Congenital generalised lipodystrophy was diagnosed.
Genes, crianças e pediatras: osteodistrofia hereditária de Albright
Bandeira, A.; Martins, E.A 11 month-old-year boy presented with moon shaped face, limb shortening, deformity of hands and feets, low stature with weight on percentile 95, without macrocephaly. Analytically he presented with hypocalcaemia, hyperphosphatasemia and high parathormone. The skeleton x-ray did not show bone dysplasia. The typical phenotype led to the diagnosis of Osteodistrophy of Albright.
Benefícios do Rastreio Neonatal nas Doenças da B-oxidação Mitocondrial dos Ácid...
Martins, E.; Bandeira, A.; Rocha, H.; Marcão, A.; Vilarinho, L.RESUMO Objectivos: Avaliar o contributo do diagnóstico precoce na redução da pesada morbilidade e mortalidade que se associa aos defeitos da B-oxidação mitocondrial dos ácidos gordos. Método: Avaliação clínica e bioquímica retrospectiva dos doentes com defeitos da B-oxidação mitocondrial dos ácidos gordos (défice em desidrogenases dos ácidos gordos de cadeia média - MCAD, défice em desidrogenases dos ácidos go...
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||