7 documents found, page 1 of 1
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...
Rodrigues, Diogo; Marcão, Ana; Lopes, Lurdes; Ventura, Ana; Faria, Teresa; Ferrão, Anabela; Gonçalves, Carolina; Kjöllerström, Paula; Castro, AnaThe Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...
When a Larva Migrates…
Cascais, Filipa da Costa; Martins, Marta; Fraga, SofiaToxocariasis is a frequent zoonosis, yet usually neglected. Children are commonly infected. Clinical findings are vast and may cause serious complications. Treatment with antiparasitic drugs should be weighted against clinical severity. The authors present a case of a twenty-three-month old boy diagnosed with a lobar pneumonia due to fever, cough and a heterogeneous opacity in the right apex. Laboratory evaluat...
Estudo Caso-Controlo de Fatores de Risco Para Síndrome Torácica Aguda em Crianç...
Soares, Ana Teresa; Matias, Joana; Couto, Catarina; Fraga, Sofia; Tavares, Ana; Braga, Manuela; Franco, JoãoIntrodução: O síndroma torácico agudo constituiu uma complicação frequente da doença de células falciformes associada a morbilidade e mortalidade significativas. Material e métodos: Estudo descritivo retrospetivo, caso-controlo, de uma amostra de conveniência de crianças com doença células falciformes seguidas em consulta de hematologia pediátrica de um hospital distrital entre Janeiro/2008 e Junho/2013. Foram ...
Abordagem da glicosúria renal na criança: a propósito de um caso clínico
Pais, Patrícia; Reis, Filipa; Fraga, Sofia; Ferreira, Maria Gomes; Amaral, RosárioIntrodução: A deteção ocasional de glicosúria obriga à exclusão de diabetes mellitus. Na ausência de hiperglicemia deve considerar-se glicosúria de causa renal, podendo ser isolada, como na glicosúria renal familiar, ou estar associada a tubulopatias hereditárias, como na síndrome de Fanconi -Bickel, ou a disfunção tubular adquirida, obrigando a investigação da função renal e tubular. Caso clínico: Os autores d...
Next-generation sequencing of hereditary hemochromatosis-related genes: novel l...
Faria, Ricardo; Silva, Bruno; Silva, Catarina; Loureiro, Pedro; Queiroz, Ana; Fraga, Sofia; Esteves, Jorge; Mendes, Diana; Fleming, Rita; Vieira, LuísHereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation ...
Next-generation sequencing of iron-metabolism related genes in Portuguese patie...
Faria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luis; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Rivera, Isabel; Fraga, SofiaObjective: In Southern European countries up to one-third of the patients with hereditary hemochromatosis (HH) do not present the common HFE risk genotype. In order to investigate the molecular basis of these cases we have designed a gene panel for rapid and simultaneous analysis of 6 HH-related genes (HFE, TFR2, HJV, HAMP, SLC40A1 and FTL) by next-generation sequencing (NGS). Materials and Methods: Eighty-eigh...
Abordagem da glicosúria renal na criança: a propósito de um caso clínico
Pais, Patrícia; Reis, Filipa; Fraga, Sofia; Ferreira, Maria Gomes; Amaral, RosárioIntroduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin. It can be isolated, as in familiar renal glycosuria, or it can be part of a hereditary tubular disorder such as Fanconi-Bickel syndrome or associated with an acquired tubular dysfunction. The renal and tubular function should be investigat...