Browsing by Author "Alves, Rui"
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- Imaging clinical casePublication . Cristina, Catarina; Serras, Inês; Santos, Ema; Alves, Rui; Serrano, DulceHirschsprung disease is the most common congenital gut motility disorder and usually diagnosed in the neonatal period. It is caused by an aganglionic bowel segment resulting in absence of intestinal peristalsis and functional obstruction. Diagnosis should be considered in all patients with constipation that does not respond to conventional treatment. Radiography and contrast enema are important diagnostic exams, but the definitive diagnosis is established through histochemical analysis of aganglionic segment biopsy. Treatment is surgical and early recognition is important to avoid complications and improve prognosis. Herein is reported the clinical case of a young infant presenting to the Pediatric Emergency Department with nausea, vomiting, constipation, refusal to feed, and important abdominal distension. Abdominal radiograph and contrast enema were compatible with Hirschsprung disease. Biopsy histochemical analysis confirmed the diagnosis and surgical treatment was performed.
- New Potential Biomarkers for Chronic Kidney Disease Management—A Review of the LiteraturePublication . Lousa, Irina; Reis, Flávio; Beirão, Idalina; Alves, Rui; Belo, Luís; Santos-Silva, AliceThe prevalence of chronic kidney disease (CKD) is increasing worldwide, and the mortality rate continues to be unacceptably high. The biomarkers currently used in clinical practice are considered relevant when there is already significant renal impairment compromising the early use of potentially successful therapeutic interventions. More sensitive and specific biomarkers to detect CKD earlier on and improve patients' prognoses are an important unmet medical need. The aim of this review is to summarize the recent literature on new promising early CKD biomarkers of renal function, tubular lesions, endothelial dysfunction and inflammation, and on the auspicious findings from metabolomic studies in this field. Most of the studied biomarkers require further validation in large studies and in a broad range of populations in order to be implemented into routine CKD management. A panel of biomarkers, including earlier biomarkers of renal damage, seems to be a reasonable approach to be applied in clinical practice to allow earlier diagnosis and better disease characterization based on the underlying etiologic process.