8 documents found, page 1 of 1
The Stool Color Card as a Screening Tool for Biliary Atresia in the Digital Ver...
Ashworth, Joanna; Tavares, Marta; Santos Silva, Ermelinda; Lopes, Ana IsabelN/a.; N/a.
Neonatal cholestasis : development of a diagnostic decision algorithm from mult...
Santos Silva, Ermelinda; Moreira Silva, Helena; Catarino, Cristina; Dias, Cláudia Camila; Santos Silva, Alice; Lopes, Ana IsabelDespite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis still relays on the expertise of medical teams. Our aim was to develop models of etiological diagnosis and unfavourable prognosis which may support a rationale diagnostic approach. We retrospectively analysed 154 patients born between January 1985 and October 2019. The cohort was divided into two main groups: (A) tr...
European lipodystrophy registry: background and structure
von Schnurbein, Julia; Adams, Claire; Akinci, Baris; Ceccarini, Giovanni; D’Apice, Maria Rosaria; Gambineri, Alessandra; Hennekam, Raoul C. M.Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) d...
Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort...
Santos Silva, Ermelinda; Almeida, Alexandra; Frutuoso, Simão; Martins, Esmeralda; Valente, Maria João; Santos-Silva, Alice; Lopes, Ana IsabelIntroduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival. Our goal was to characterize these changes over time in our setting. Methods: Retrospective cohort study in a tertiary center, enrolling patients born between January 1985 and October 2019. The cohort was div...
Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Con...
Borges, Teresa; Fortuna, Ana; Faria, Maria Do Sameiro; Oliveira, Maria João; Freitas, Joana; Santos Silva, Ermelinda; Quelhas, DCo-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this pheno...
Childhood Fructoholism and Fructoholic Liver Disease
Ribeiro, A.; Igual-Perez, M.; Santos Silva, Ermelinda; Sokal, E.Nonalcoholic fatty liver disease (NAFLD) is an emerging entity, becoming the most prevalent pediatric chronic liver disease. Its broad spectrum of histological findings, comorbidities, and complications, including cirrhosis and liver failure, can occur in childhood, emphasizing the severity of pediatric NAFLD. Current lifestyle and diet modifications have been linked to the increasing prevalence of NAFLD, inclu...
Colangite Esclerosante Neonatal Afectando Dois Irmãos
Santos Silva, Ermelinda; Carvalho, Carmen; Martins, Esmeralda; Pereira, Fernando; Silvestre, Frederico; Medina, MargaridaOs autores descrevem o caso de dois irmãos afectados por colangite esclerosante neonatal, salientando as dificuldades de diagnóstico que conduziram num dos casos à realização desnecessária de derivação biliodestiva. Fazem uma breve revisão dos casos publicados na literatura referindo os aspectos clínicos, bioquímicos, histopatológicos e radiológicos desta doença rara e de identificação recente. A incidência em ...
Colestase neonatal - Protocolo de abordagem diagnóstica
Santos Silva, Ermelinda; Pó, Inês; Gonçalves, IsabelA icterícia é frequente nos recém nascidos. A persistência de icterícia para além dos 14 dias de vida (em recém-nascidos de termo) torna mandatória uma investigação, embora muitos bebés com icterícia do leite materno se possam manter ictéricos para além dos 30 dias 1.A ictercia frequente nos recm nascidos. A persistncia de ictercia para alm dos 14 dias de vida (em recm-nascidos de termo) torna mandatria uma inv...