[A randomized single-blind trial of the effects of vitamins C and E in familial hypercholesterolemia]. / Ensayo aleatorizado ciego-sencillo sobre los efectos de las vitaminas C y E en la hipercolesterolemia familiar.

INTRODUCTION: The aim of this study was to evaluate the effect of antioxidant vitamin C and E administration on dyslipidemia, plasma fatty acid composition, and biochemical inflammatory markers in children with heterozygous familial hypercholesterolemia (FH). PATIENTS: Forty girls and boys with heterozygous FH, aged between 2 and 18 years, and with plasma low-density lipoprotein (LDL)-cholesterol levels higher than 160 mg/dl were studied. METHODS: We performed an open longitudinal randomized trial over a 1-year period. All children followed a dietary intervention according to the National Cholesterol Education Program (NCEP)-1 guidelines and were randomized into two groups. One group (n = 21) received therapy with vitamin C (500 mg twice a day) and vitamin E (400 IU per day). A second group (n = 19) did not receive vitamin therapy. RESULTS: In patients receiving antioxidant vitamins, plasma linoleic acid levels (18:2 omega-6) significantly increased and the essential fatty acid deficiency ratio significantly decreased (Mead/arachidonic acid: 20:4 omega-6/20:3 omega-9). No significant differences were observed in plasma lipid profile, adhesion molecules, or reactive C protein. CONCLUSIONS: Antioxidant vitamin therapy in children with heterozygous FH modifies the plasma fatty acid profile. These modifications are independent of the degree of dyslipidemia and may represent an indicator of reduced cardiovascular risk.

Ensayo aleatorizado ciego-sencillo sobre los efectos de las vitaminas C y E en la hipercolesterolemia familiar / A randomized single-blind trial of the effects of vitamins C and E in familial hypercholesterolemia

Introducción El objetivo de este trabajo ha sido evaluar el efecto de la administración de las vitaminas antioxidantes C y E sobre la dislipemia, la composición de los ácidos grasos en plasma y los marcadores bioquímicos de inflamación en niños afectados de hipercolesterolemia familiar (HF) heterozigótica. Pacientes Cuarenta niños de ambos sexos afectados de HF heterozigótica, de edades comprendidas entre 2 y 18 años, y con valores de colesterol de las lipoproteínas de baja densidad (c-LDL) en plasma superiores a 160 mg/dl. Métodos Estudio aleatorizado longitudinal abierto de un año de duración. Todos los niños siguieron una intervención dietaria de acuerdo con las guías National Cholesterol Education Program (NCEP-1) y fueron aleatorizados en 2 grupos. El primer grupo (n = 21), recibió una terapia con vitamina C (500 mg dos veces al día) y vitamina E (400 U/día). Un segundo grupo (n = 19) no recibió terapia alguna con vitaminas. Resultados Los pacientes que recibieron vitaminas antioxidantes presentaron un aumento significativo en los niveles de ácido linoleico (18:2 ω-6) en plasma y un descenso significativo en el índice de deficiencia de ácidos grasos esenciales (Mead/araquidónico: 20:3 ω-9/20:4 ω-6). No se observaron diferencias significativas en el perfil lipídico en plasma, moléculas de adhesión o proteína C reactiva. Conclusiones La terapia con vitaminas antioxidantes en niños con HF heterozigótica muestra modificaciones del perfil de ácidos grasos que son independientes del grado de dislipemia y podría representar un indicador de disminución de riesgo cardiovascular

Introduction The aim of this study was to evaluate the effect of antioxidant vitamin C and E administration on dyslipidemia, plasma fatty acid composition, and biochemical inflammatory markers in children with heterozygous familial hypercholesterolemia (FH). Patients Forty girls and boys with heterozygous FH, aged between 2 and 18 years, and with plasma low-density lipoprotein (LDL)-cholesterol levels higher than 160 mg/dl were studied. Methods We performed an open longitudinal randomized trial over a 1-year period. All children followed a dietary intervention according to the National Cholesterol Education Program (NCEP)-1 guidelines and were randomized into two groups. One group (n = 21) received therapy with vitamin C (500 mg twice a day) and vitamin E (400 IU per day). A second group (n = 19) did not receive vitamin therapy. Results In patients receiving antioxidant vitamins, plasma linoleic acid levels (18:2 ω-6) significantly increased and the essential fatty acid deficiency ratio significantly decreased (Mead/arachidonic acid: 20:4 ω-6/20:3 ω-9). No significant differences were observed in plasma lipid profile, adhesion molecules, or reactive C protein. Conclusions Antioxidant vitamin therapy in children with heterozygous FH modifies the plasma fatty acid profile. These modifications are independent of the degree of dyslipidemia and may represent an indicator of reduced cardiovascular risk

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia.

AIM: To evaluate the effect of administration of docosahexaenoic acid (DHA) on dyslipidaemia, plasma fatty acid composition and metabolic parameters of children with isolated methylmalonic acidaemia (MMA) (McKusick 25100). METHODS: Four children (3 male, 1 female) with MMA (mut(0)), participated in a crossover, randomized study of DHA administration (25 mg/kg per day, divided into three daily doses). The control group comprised 56 healthy children, aged 10+/- 2.7 years, (51 male, 5 female), who were followed in our clinic owing to possible familial risk of cardiovascular disease. RESULTS: The comparison of plasma fatty acid composition of children with MMA versus control children demonstrated that the patients had significantly higher values for oleic acid (p = 0.004) and linolenic acid (p = 0.008). No differences were observed in the levels of DHA and arachidonic acid. Plasma concentrations of insulin, glycine, ammonia, total cholesterol and cholesterol fractions did not change with DHA administration. No significant changes were observed in urinary excretion of methylmalonic acid. As expected, the percentage of DHA and n-3 fatty acids in plasma increased significantly after therapy (p = 0.005 and 0.014, respectively). The most remarkable result was a decrease of plasma levels of triglycerides after DHA therapy (p = 0.014). CONCLUSION: As previously found in normal children, dietary supplementation with DHA decreases the triglyceride levels, normalizing the hypertriglyceridaemia of these children without any evidence of short-term adverse effects.

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1% of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (delta F508 nine patients, delta I507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 delta F508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01), both probably related to the greater prevalence of pancreatic sufficiency (70% v 0%, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype.

[Gastroenteritis caused by Campylobacter jejuni in childhood]. / Gastroenteritis por "Campylobacter jejuni" en la infancia.

Fifteen patients with stool growth of "Campylobacter jejuni" are presented. In one case it was associated with growth of "Salmonella typhimurium". Fourteen cases presented as an acute gastroenteritis whereas the remainder case was considered to be an asymptomatic carrier. The incidence was 5.8%. The disease was more frequent in infancy (13 cases occurred in ages below one year). Diarrhea was the most frequent symptom (93.3%), with presence of macroscopic blood in the stool in 78.5% of these cases. In three cases the process was associated to cow's milk protein-sensitive enteropathy. Four patients were treated with erythromycin and the stool culture become negative at the end of therapy. In the untreated cases the stool culture become negative within a period from five to 15 days. In the asymptomatic carrier the stool culture become negative after a period of two months.