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Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no reports of PMD affected males who have descendants 9. PLP1 gene dosage alterations duplications were found in All patients were male, 6 months to 16 years of age, one of them died by the age of 5 due to complications of a respiratory infection.
The espectrum of PLP1 gene mutations in patients with classical form of the Pelizaeus Merzbacher disease. I47Ta missense variant classified as pathogenic, and two previously unreported alterations, the c.
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Neuroimaging of patients with classic PMD showed evidence of T2 hyperintensities both diffuse or periventricular in the supratentorial withe matter.
The burden of inherited leukodystrophies in children. Unlike other leukodystrophies in which there is a period of normal cortical myelination an then comes a disruption resulting in the lost of myelin sheaths demyelinationPMD has, from the beginning, an abnormal or low production of this very important protein hypomyelinationdue to inicef damage on the PLP1 gene coding for the Protelipidic Protein type 1 that interferes with the oligodendrocyte synthesis of fully functional myelin sheaths and probably also affects the peripheral function of myelinated axons 38.
Also, we applied the PMD functional disability scoring system and the WHO Abbreviated Scale of Development to assess the degree of developmental retardation and disability on our patients Desxrrollo believe it is important to establish the biochemical functionality of I47 position on the myelin proteolipidic protein to evaluate its impact on the connatal phenotype of PMD disease, given that there are not functional studies to this date that prove in vitro or in vivo effects.
Mean age at onset of symptoms was 8 months. Q99X and missense mutation c. Age at diagnosis 5 yr 11 ms. In the connatal form affected individuals, we also observed hypo intensities of the basal nuclei and grey matter atrophy.
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
First symptoms No head support or crawling. Results from the clinical evaluation of patients with Pelizaeus Merzbacher Disease. Results All patients were male, 6 months to 16 years of age, one of them died by the age of 5 due to complications of a respiratory infection. Q99X affects the cytoplasmic domain while c. We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity.
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Estudios Moleculares y Resultados: Along with the high clinical suspicion, supporting neuroimaging and molecular analysis permit an appropriate genetic counselling.
Other encephalic structures such as the brainstem, basal nuclei and cerebellum showed no abnormalities. Discussion We present one of the first Latin-American series of patients abeeviada clinical diagnosis and molecular confirmation of Pelizaeus Merzbacher disease, being the classical form more frequent than the connatal form in the evaluated patients. It ddel worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school.
Its genetic etiology affects the expression of the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Xq PV posterosuperior white matter irregular signal on T2. The proteolipid protein gene and myelin disorders in man and animal models. Eur J Hum Genet. Ile47IlefsX4 and resulted in a truncated protein product, 4 aminoacids downstream Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, in five cases, whereas the connatal phenotype was only present in two of the patients, Severe compromise of physiological tresholds.
Diagnosis can be mistaken primarily with SPG2, also caused by mutations on the PLP1 gene, differing on signs such as autonomic dysfunction and characteristic paraplegia. For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested.
UniProt Consortium; 03 August Affected individuals with the connatal form of PMD die in infancy, usually secondary to respiratory or deglutition complications, desartollo as bronchoaspiration 9.
Am J Hum Genet. We present one of the first Latin-American series of patients with clinical diagnosis and molecular confirmation of Pelizaeus Merzbacher disease, being the classical form more frequent than the connatal form in the evaluated patients. In general, PLP1 gene duplications result in a classical form of PMD, nonsense mutations in either form of SPG2 and connatal form of PMD, and other monoallelic mutations have been related to less circumscribed clinical phenotypes 6.
Clinically, it presents with developmental delay, nystagmus and spasticity, supported by neuroimaging in which the defect of myelination is evident.
Saray Esther Polo Polo
Results from the paraclinical evaluation of patients with Pelizaeus Merzbacher Disease. Exon 1 only transcribes the start codon, while sel 2, 3, 4, and 5 encode the hydrophobic domains and the hydrophilic chains of the protein. This variants express as a compromise of two functional domains of the PLP1 protein: In our study, it is to note patients with the connatal form showed worse scores of disability High severity scores in the PMD Disability Scoring System and more pronounced developmental delay, and those continue to worsen until their deaths.