RESUMEN
BACKGROUND: Atypical mycobacteria can cause systemic infections in patients with certain types of immunodeficiency. METHODS: Clinical samples were decontaminated and cultured to assess the presence of mycobacterial species. Gene sequencing was performed to reveal interferon-gamma receptor 1 (IFN-gamma R1) deficiency. RESULTS: The index patient received a diagnosis of dominant IFN-gamma R1 deficiency during treatment for a serious infection due to atypical mycobacteria. She belongs to a Norwegian multiplex family comprising 3 generations and 5 patients with dominant IFN-gamma R1 deficiency. Four of these patients have been treated with tuberculostatics because of extensive infection due to atypical mycobacteria, such as Mycobacterium avium-intracellulare, Mycobacterium scrofulaceum, Mycobacterium bovis (bacille Calmette-Guérin), Mycobacterium bohemicum, and Mycobacterium gordonae. Two of the patients have also received subcutaneous injections of IFN-gamma. One family member with the deficiency has not received treatment and is still healthy at 13 years of age. CONCLUSIONS: Serious infection due to atypical mycobacteria should initiate a search for primary immunodeficiencies, particularly IFN-gamma R1 deficiency. Treatment with IFN-gamma should be started when serious infection due to atypical mycobacteria is verified and dominant partial IFN-gamma R1 deficiency is suspected.
Asunto(s)
Infecciones por Mycobacterium no Tuberculosas/genética , Micobacterias no Tuberculosas/aislamiento & purificación , Receptores de Interferón/deficiencia , Adolescente , Niño , Femenino , Genes Dominantes , Predisposición Genética a la Enfermedad , Humanos , Masculino , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Infecciones por Mycobacterium no Tuberculosas/inmunología , Infecciones por Mycobacterium no Tuberculosas/microbiología , Noruega , Linaje , Reacción en Cadena de la Polimerasa/métodos , ARN Ribosómico 16S/genética , Receptores de Interferón/genética , Receptores de Interferón/inmunología , Receptor de Interferón gammaRESUMEN
BACKGROUND & AIMS: The aim was to study the influence of Nissen fundoplication on rate of gastric emptying and postprandial symptoms in relation to protein source in liquid meals in children with cerebral palsy. METHODS: Ten children with cerebral palsy and Nissen fundoplication and ten with cerebral palsy without Nissen fundoplication were studied. Patients had gastrostomy and received two meals, double-blinded, in random order, on separate days. Meals contained a standardised carbohydrate and fat base plus one of two protein modules (Meal A: 100% casein; Meal B: 40% casein/60% whey). The (13)C octanoic acid breath test was used to assess gastric emptying. Postprandial symptoms were recorded. Results are given as median. RESULTS: For meal A and B, respectively, time until 50% of the meal had emptied (T1/2) was 110 in the Nissen fundoplication- and 181 min in the non-Nissen fundoplication group, (p = 0.35) and 50 and 85 min (p = 0.25). Seven in the Nissen fundoplication group reported postprandial symptoms to meal B, none in the non-Nissen fundoplication group (p < 0.01). CONCLUSIONS: Compared with cerebral palsy-children without Nissen fundoplication, those with Nissen fundoplication have postprandial symptoms more frequently after receiving a rapid emptying meal. Gastric emptying alone, however, does not seem to explain the symptom occurrence. ClinicalTrials.gov: UUSKBK 28200706.
Asunto(s)
Parálisis Cerebral/cirugía , Proteínas en la Dieta/administración & dosificación , Fundoplicación/métodos , Vaciamiento Gástrico , Periodo Posprandial , Adolescente , Pruebas Respiratorias , Caprilatos/análisis , Caseínas/administración & dosificación , Niño , Preescolar , Carbohidratos de la Dieta/administración & dosificación , Grasas de la Dieta/administración & dosificación , Método Doble Ciego , Femenino , Humanos , Masculino , ComidasRESUMEN
BACKGROUND & AIM: Dysmotility, nausea and vomiting are common among children with cerebral palsy. This study aimed to evaluate influence of protein composition on rate of gastric emptying and study the relation between gastric emptying and postprandial gastrointestinal symptoms. METHODS: 15 children with cerebral palsy, using gastrostomy, received four liquid test meals on separate days in random order. The meals contained a standard carbohydrate and fat base plus one of four protein modules (100% casein (A), hydrolysed whey (B), amino acids (C) and 40% casein/60% whey (D)) with a total energy of 1 kcal/ml. The (13)C octanoic acid breath test was applied to assess gastric emptying. RESULTS: When comparing half emptying time (T(1/2)) of the fast emptying meals (meal B, C and D) with the slowest emptying meal (meal A), more rapid emptying was demonstrated for meal D (p < 0.001). For meal D, emptying was significantly faster in children with postprandial symptoms than in those without (p < 0.01). CONCLUSION: In children with cerebral palsy using gastrostomy, gastric emptying is influenced by type of protein in the meal. The present results also suggest that there is a relation between rapid gastric emptying and postprandial gastrointestinal symptoms. CLINICALTRIALS.GOV: UUSKBK 28200706.