5 documents found, page 1 of 1
The Role of Genetic Testing in Diagnosing ADTKD-HNF1B in a Pregnant Woman
Fernandes, Vítor; Gonçalves, Pedro; Porto Vasconcelos, Alice; Faria, Bernardo; Tavares, IsabelAutosomal dominant tubulointerstitial kidney disease (ADTKD) accounts for approximately 2%‑5% of monogenic causes of chronic kidney disease (CKD) and remains frequently underrecognized due to its heterogeneous clinical presentation. We report the case of a 37‑year‑old pregnant woman diagnosed with CKD, initially attributed to chronic pyelonephritis. She presented with bilateral renal cysts, electrolyte abnormal...
Diagnosis methods for COVID-19: a systematic review
Maia, Renata; Carvalho, Violeta Meneses; Faria, Bernardo; Miranda, Inês; Catarino, Susana; Teixeira, Senhorinha F.C.F.; Lima, Rui A.; Minas, GraçaAt the end of 2019, the coronavirus appeared and spread extremely rapidly, causing millions of infections and deaths worldwide, and becoming a global pandemic. For this reason, it became urgent and essential to find adequate tests for an accurate and fast diagnosis of this disease. In the present study, a systematic review was performed in order to provide an overview of the COVID-19 diagnosis methods and tests...
Statistical Modelling in Health: Some Case Studies
Henriques, Carla; Matos, Ana Cristina; Santos, Luis Ferreira; Faria, BernardoThis presentation focus on two examples of applications of Statistics in the field of Medicine. Research questions are posed by health professionals. The answers are not always straightforward, and the difficulties show up with different forms. In the first case study, the objective was to find a panel of biomarkers that would be useful to predict the course of a kidney disease – Immunoglobulin A nephropathy (I...
Combined C4d and CD3 immunostaining predicts IgA nephropathy progression
Faria, Bernardo; Henriques, Carla; Matos, Ana; Daha, M.; Pestana, M.; Seelen, M.A number of molecules have been shown recently to be involved in the pathogenesis and progression of immunoglobulin (Ig)A nephropathy(IgAN). Among these, we have selected C4d (complement lectin pathway involvement), CD3 (T cell marker, traducing interstitial inflammation),transglutaminase 2 (TGase-2, involved in tissue fibrosis development) and p-extracelluar-regulated kinase (ERK)1/2 (protein kinase intracellu...
Idiopathic hypoparathyroidism and systemic lupus erythematosus: a rare associat...
Carragoso, Adelino; Silva, José Roberto; Capelo, Joana; Faria, Bernardo; Gaspar, OrlandoA 20-year-old woman was admitted to our hospital after two generalized seizures with severe hypocalcemia. She was diagnosed with Idiopathic Hypoparathyroidism. In the follow-up she was diagnosed with Systemic Lupus Erythematosus (SLE) by the presentation of four criteria of the American College of Rheumatology (ACR) for SLE. This is the sixth reported case of this association.; A 20-year-old woman was admitted ...