Browsing by Author "Ferreira, S"
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- Acute liver failure related to inherited metabolic diseases in young childrenPublication . Dias-Costa, F; Moinho, R; Ferreira, S; Garcia, P; Diogo, L; Gonçalves, I; Pinto, CINTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology. RESULTS: From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNA depletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defects of glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) and citrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestive sign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) was observed in 67% of the cases. The most common physical signs at admission included: hepatomegaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were: mean international normalizad ratio 4.5, median lactate 5mmol/L, mean bilirubin 201μmol/L, median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177μmol/L. One patient was submitted to liver transplant in ALF context (MSD). The mortality rate was 44%. DISCUSSION: The identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion.
- Enterocolite necrosante: experiência de catorze anosPublication . Paul, A; Ferreira, S; Resende, C; Faria, DBackgound: Necrotizing enterocolitis ((NEC) is one of most frequent gastrointestinal emergencies in the neonatal period. Aims: To evaluate the incidência, epidemiology, risk factors and clinical outcomes of newborns with necrotizing enterocolitis admitted to a Level III Neonatal Intensive Care Unit (NICU) . Methods: Casuistic review of newborns with NEC adtmitted to a level III unit, from January 1995 to 31 December 2008. Results: Thirty nine patients were diagnosed: 0,8‰ of live birth, 1% of NICU admissions, 4% of very low birth weight (VLBW) and 9,5% of extremely low birth weight (ELBW) infants. Thirty eight (97%) were preterm and 85% had a gestational age (GA) of 31 weeks or less. Birth weight and GA were 1136±725g and 27,9±3,5 weeks. The prevalence for light for gestational age status was 20,5%. Forty four had blood transfusion and 36% received indomethacin treatment. Enteral feeding was started before the diagnosis of NEC in 37 (95%) newborns and 59% had breast milk feeding. NEC stage III occurred in 24 (61,5%), 67% of those had progression of milk intake < 20mg/Kg/d and 83% had rapid progression of milk intake (p=0,43). Nineteen (48,7%) were submitted to surgical intervention. The letality rate was 31%, 50% of NEC stage IIIB and 21,0% of surgical cases. Intestinal strictures and short bowel syndrome occurred in 2 cases, respectively. Conclusions: The incidence of NEC was 0,8‰ live births and 4% in VLBW. It is not possible to conclude about differences in incidence and severity of NEC with the rate of progression of milk intake.
- Multicenter survey on the use of device-assisted enteroscopy in PortugalPublication . Pinho, R; Mascarenhas-Saraiva, M; Mão-de-Ferro, S; Ferreira, S; Almeida, N; Figueiredo, P; Rodrigues, A; Cardoso, H; Marques, M; Rosa, B; Cotter, J; Vilas-Boas, G; Cardoso, C; Salgado, M; Marcos-Pinto, RBACKGROUND: Device-assisted enteroscopies (DAEs) are recent endoscopic techniques that enable direct endoscopic small-bowel evaluation. OBJECTIVE: The objective of this article is to evaluate the implementation of DAEs in Portugal and assess the main indications, diagnoses, diagnostic yield, therapeutic yield and complication rate. METHODS: We conducted a multicenter retrospective series using a national Web-based survey on behalf of the Portuguese Small-Bowel Study Group. Participants were asked to fill out two online databases regarding procedural data, indications, diagnoses, endoscopic therapy and complications using prospectively collected institutional data records. RESULTS: A total of eight centers were enrolled in the survey, corresponding to 1411 DAEs. The most frequent indications were obscure gastrointestinal bleeding (OGIB), inflammatory bowel disease and small-bowel tumors. The pooled diagnostic yield was 63%. A relation between the diagnostic yield and the indications was clear, with a diagnostic yield for OGIB of 69% (p = 0.02) with a 52% therapeutic yield. Complications occurred in 1.2%, with a major complication rate of 0.57%. Perforations occurred in four patients (0.28%). CONCLUSION: DAEs are safe and effective procedures, with complication rates of 1.2%, the most serious of which is perforation. Most procedures are performed in the setting of OGIB. Diagnostic and therapeutic yields are dependent on the indication, hence appropriate patient selection is crucial
- Results of Endovascular Procedures Performed in Dysfunctional Arteriovenous Accesses for HaemodialysisPublication . Machado, S; Ferreira, S; Lucas, C; Gil, C; Fortes, A; Neves, FAim. Percutaneous endovascular procedures have become the standard treatment of arteriovenous fistulae and graft stenosis. This study evaluates the immediate results of angiographic procedures performed by nephrologists in patients with dysfunctional arteriovenous fistulae and arteriovenous graft stenosis. Patients and Methods. A retrospective analysis was performed on patients referred to the three Interventional Nephrology units between April and June, 2010. Clinical data were recorded. Results. A total of 113 procedures were performed: 59 in arteriovenous fistulae and 54 in arteriovenous graft stenosis. The main reasons for referral were increased venous pressure (21%), limb oedema (21%) and decreased intra-access flow (20%). Stenoses were detected in 85% of the procedures, mostly in patients with arteriovenous graft stenosis (56%). The main locations of stenosis were the outflow vein (cephalic/basilic) in arteriovenous fistulae (34%) and venous anastomosis in arteriovenous graft stenosis(48%). Angioplasty was performed in 73% of procedures where stenoses were detected. The immediate success rate was 91% for arteriovenous fistulae and 83% for arteriovenous graft stenosis. Partial success was obtained in 11% of angiographies. The complication rate was 7%. Conclusions. Physical examination findings led, in at least half the cases, to angiography referral and enabled the diagnosis and treatment of stenoses. For this reason, we advocate that this tool should be included in any vascular access monitoring programme. Our results support the safety of these procedures performed by nephrologists and their efficacy in the recovery of dysfunctional arteriovenous fistulae and arteriovenous graft stenosis.