ABSTRACT
Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array-CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.
Subject(s)
Mutation , Myelin Proteolipid Protein/genetics , Pelizaeus-Merzbacher Disease/genetics , Child , Child, Preschool , Comparative Genomic Hybridization , Genotype , Humans , Infant , Male , Pelizaeus-Merzbacher Disease/diagnosis , PhenotypeABSTRACT
Laryngeal cancer constitutes and important problem from the nutritional point of view, both due to the effect of the tumor itself as due to the aggressive treatment to which the majority of these patients are subjected. To evaluate the incidence of nutritional support on the morbid-mortality and on the number of hospitalization days, we compare a group A of 61 patients diagnosed with laryngeal squamous cell carcinoma, who received treatment from the Department of Nutrition, with another, similar group B, who received a standard diet. a complete evaluation of the nutritional status was done (anthropometric biochemical and immunological parameters) one day prior to the surgery and two weeks after. The differences of age (61 vs 63 years), cigarette smoking (31 vs 34), excessive alcohol ingestion (34 vs 29), location of the tumor and type of surgery, were not significant. The nutritional treatment used in group A was enteral nutrition by means of a 12-F polyurethane naso-gastric tube, while in group B it was the ground up culinary diet through a large caliber naso-gastric tube. There were no significant differences in the mortality (1/0) or in the surgical complications (9/10); nevertheless, the average number of hospital days was clearly lower in group A (18 days) compared to group B (24 days) (p < 0.005). The evolution of the evaluation parameters of the nutritional status was analyzed, as well as the administered dietary formulae, added medication, and the complications of the technique. Regulated nutritional support may contribute to the decrease of the hospitalization period of patients operated on for laryngeal cancer.
