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1.
J Child Neurol ; 32(6): 528-532, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28116953

RESUMO

We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that Brown-Vialetto-Van Laere syndrome is more common than previously reported, and because it mimics neuroimmune disorders, it may be misdiagnosed as such. It shares many features with diseases such as chronic inflammatory demyelinating neuropathy, may present with positive cerebrospinal fluid antibody titers, and may transiently respond to intravenous immunoglobulin. We review the literature on Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome, 2 riboflavin transporter disorders, looking for clinical presentations that may lead to confusion with neuroimmune disorders. We emphasize the importance of correctly diagnosing the disease, as its treatment is relatively benign and will stop progression of the disease and may even reverse it.


Assuntos
Doenças Autoimunes do Sistema Nervoso/fisiopatologia , Paralisia Bulbar Progressiva/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Adolescente , Paralisia Bulbar Progressiva/genética , Pré-Escolar , Progressão da Doença , Feminino , Perda Auditiva Neurossensorial/genética , Humanos , Proteínas de Membrana Transportadoras/genética , Mutação/genética
2.
Pharmacol Res ; 65(2): 231-8, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22155106

RESUMO

The objective of the study was to evaluate the safety and tolerance of an infant formula supplemented with Lactobacillus fermentum CECT5716, a probiotic strain isolated from breast milk, in infants of 1-6 months of age. A randomized double blinded controlled study including healthy infants was conducted. One month aged infants received a prebiotic infant formula supplemented with L. fermentum (experimental group) or the same formula without the probiotic strain (control group) for 5 months. The primary outcome of the study was average daily weight gain between baseline and 4 months of age. Secondary outcomes were other anthropometric data (length and head circumference), formula consumption, and tolerance. Incidence of infections was also recorded by pediatricians. No significant differences in weight gain were observed between both groups, neither at 4 months of age (29.0±7.8 vs 28.9±5.7g/day) nor at 6 months (25.1±6.1 vs 24.7±5.2g/day). There were no statistically significant differences in the consumption of the formulae or symptoms related to the tolerance of the formula. The incidence rate of gastrointestinal infections in infants of the control group was 3 times higher than in the probiotic group (p=0.018). Therefore, consumption of a prebiotic infant formula enriched with the human milk probiotic strain L. fermentum CECT5716 from 1 to 6 months of life is well tolerated and safe. Furthermore, the consumption of this formula may improve the health of the infants by reducing the incidence of gastrointestinal infections.


Assuntos
Fórmulas Infantis , Limosilactobacillus fermentum , Probióticos/administração & dosagem , Probióticos/efeitos adversos , Antropometria/métodos , Fezes/química , Feminino , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Masculino , Leite Humano/microbiologia , Aumento de Peso
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