4 documents found, page 1 of 1
Estimating the Glomerular Filtration Rate in Pediatric Patients With Neurogenic...
Menezes, Catarina; Costa, Teresa; Brás, Catarina; Sousa, Patrícia; Mendes, Ana; Amorim, Rosa; Faria, Maria Do Sameiro; Mota, ConceiçãoBackground and objective Patients with neurogenic bladder (NB) are at a higher risk of developing chronic kidney disease (CKD). Due to their lower muscle mass, the estimated glomerular filtration rate (eGFR) based on creatinine (Cr) may be overestimated and delay the diagnosis of renal failure. This study compared eGFR calculated with different equations based on Cr and/or cystatin C (CysC) in children with NB,...
Identifiable relatives in the family history: not without individual consent
Nunes, José Pedro L.; Faria, Maria Do Sameiro; Abreu Amorim, CarlosThe family history is a traditional section of the clinical record. Data on family members in the clinical record may be anonymous but yet these may be easily identifiable; therefore, exposing the relatives of the patient to the fact that a written record is produced, mentioning them, without their consent. This is in direct contradiction with European data protection and other regulations and in contradiction ...
Imaging clinical case
Batista, Ana Rita; Valpaços, Catarina; Sousa, Pedro; Costa, Teresa; Mota, Conceição; Reis, Armando; Faria, Maria Do SameiroHere in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papil...
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...