Luiz Aldamiz-Echevarría

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations. Eleven novel(More)
A prognostic score for children with acute meningococcemia is proposed. We reviewed 176 consecutive patients with acute meningococcemia with ten fatalities admitted to our pediatric ICU in the last 3 yr. The score was obtained from patients in shock, using a stepwise linear discriminant analysis of 18 clinical and laboratory variables on admission. Nine(More)
The aim of this prospective, randomized clinical trial was to compare the efficacy of parenteral nutrition (PN) in adult bone marrow transplant (BMT) patients on a continuous (CON) versus a cyclic (CYC) regimen. Twelve patients received CON PN and 12 CYC PN. The groups were homogeneous. CON PN received 27.2 +/- 3.7 kcal/kg/day and for CYC PN 25.9 +/- 4.2(More)
In order to assess the benefits of a Nutritional Team in our hospital, the Nutritional Committee made a prospective study concerning the Parenteral Nutrition application between June 8th and July 23rd 1992. We studied 94 patients, mean age 51.5 (0-88). They had 918 nutritional units (20 NU/day) for a mean time of 13.2 days. The main nutritional indication(More)
Authors present a 7-year-old patient with cat-scratch disease during which he developed a "grand mal" convulsive status with severe intracranial hypertension requiring epidural monitoring and energetic treatment. Outcome was favourable, without neurologic sequelae. Review etiology and diagnostic criteria of this disease pointing out atypical forms of(More)
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