ABSTRACT
Monophasic RbLaP4O12 possessing monoclinic symmetry with varied Eu(3+) concentrations was synthesized by flux method. The obtained cyclotetraphosphate exhibits very small crystals and the dopant Eu(3+) ions were successfully incorporated into the sites of La(3+) ions of the host lattice. These compounds were characterized by infrared and Raman spectroscopy, X-ray diffraction (XRD) and luminescence spectroscopy. The spectroscopy properties confirm the potentiality of present RbLaP4O12 doped with Eu(3+) ions as luminophore host materials to produce an intense red luminescence at 616 nm corresponding to (5)D0â(7)F2 emission level and have significant importance in the development of emission optical systems.
Subject(s)
Europium/chemistry , Lanthanum/chemistry , Polyphosphates/chemistry , Rubidium/chemistry , Luminescence , Luminescent Measurements , Spectrum Analysis, Raman , X-Ray DiffractionABSTRACT
UNLABELLED: Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. The aim of our study was to propose in Tunisia a strategy of molecular and prenatal diagnosis of the MPS I. POPULATION AND METHODS: Our study was carried out on 8 MPS I patients recruited from different Tunisian regions and issued from 5 unrelated families. All the patients were offspring of consanguineous marriages. RESULTS: The clinical and biological study led to diagnose 5 Hurler patients and 3 Hurler-Scheie patients. Three IDUA mutations were identified by molecular analysis within 6 different families: a novel mutation p.F602X and 2 already described mutations p.P533R and p.R628X. DISCUSSION: MPS I is a heterogeneous disease characterized by variability of the phenotypes. The missense mutation p.P533R associated with the intermediate phenotype was the most frequent in the Tunisian but also in the Moroccan population. In Tunisia, the incidence of p.P533R mutation seems to be associated with the high frequency of consanguineous marriages. CONCLUSION: The identification of known MPS I mutations (p.P533R and p.R628X) and of the novel mutation p.F602X permits reliable genetic counselling of at-risk relatives and molecular prenatal diagnosis.
Subject(s)
Iduronidase/genetics , Mucopolysaccharidosis I/genetics , Child , Child, Preschool , Consanguinity , Female , Humans , Infant , Male , Mutation , TunisiaABSTRACT
Multiple keratocysts of the jaws are habitual in the nevoid basal cell carcinoma syndrome (Gorlin and Goltz. Syndrome). The authors report 3 cases of multiple keratocysts in a 28 year-old woman and in two men respectively ages of 27 and 21 years. In the third case some anomalies in which calcification of the falx cerebri were noted and suggested the Gorlin's syndrome. The limits of this syndrome with multiple keratocysts of the jaws are discussed.
