RESUMEN
BACKGROUND: Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other mucopolysaccharidoses, it has not been sufficiently addressed in MPS III. The aim of this study was to investigate growth data of a large Dutch MPS III cohort in order to construct growth charts for MPS III patients. METHODS: Height, weight, head circumference (HC), and body mass index (BMI) data from 118 MPS III patients were used to construct reference curves, using the lambda, mu, sigma (LMS) method. Genotype-group comparisons for height standard deviation scores (SDS) were performed by Kruskal-Wallis analysis for different age groups. RESULTS: Birth weight and length were within normal ranges for gestational age and showed a significantly stunted growth from age 6 years onward. Mean final heights were 169.7 cm (-2.0 SDS) and 165.4 cm (-0.84 SDS) for adult male and female, patients, respectively. Phenotypic severity, as assessed by genotyping, correlated with growth pattern and final height. In addition, mean BMI and HC SDS were significantly higher when compared with Dutch standards for both boys and girls. CONCLUSIONS: Growth in MPS III is stunted mainly in patients with the severe phenotype. We provide disease-specific growth references that can be used for clinical management of MPS III patients and may be of value for future treatment studies.
Asunto(s)
Estatura , Peso Corporal , Mucopolisacaridosis III/fisiopatología , Adolescente , Adulto , Peso al Nacer , Índice de Masa Corporal , Niño , Femenino , Humanos , MasculinoRESUMEN
A latex agglutination test for the detection of salmonella in feces was evaluated in comparison to direct culture and enriched culture using both artificially inoculated samples and clinical samples. In the samples inoculated artificially with different concentrations of salmonella (10(1) to 10(5) per gram) the enriched culture performed better only at the 10(2) level in 0.4 g samples, whereas the latex test performed as well as the enriched culture at all levels in 4 g samples. In the tests using clinical samples, there was no significant difference between results of the latex test performed in 2283 samples and the enriched culture performed in 2072 samples. The sensitivity, specificity and negative and positive predictive values of the latex test were 88.2%, 98%, 97.5% and 63% respectively. The test provided results rapidly but yielded a number of false positive results.
