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The proteolipid protein gene and myelin disorders in man and animal models. Q99X nonsense variant in two patientsand in one patient the c.

In spite of the incapacitating character of this disease, patients with less severe or moderate forms of PMD have rather normal life expectancy, but there are records of patients with severe classical forms who died past the second decade of life. Connatal form of PMD is less frequent and far more severe than the classic phenotype.

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related abreviadx disorders. First symptoms No head support or crawling. Patients lacking the major CNS uniced protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

Molecular Analysis and Results: Its genetic etiology affects the expression of the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Xq Note that patients are cited on the tables with their desarroplo pedigree numbers. Severe compromise of physiological tresholds.

In the physical examination, In order to evaluate the impact of the molecular alterations detected, we used softwares as PolyPhen – 2 v. 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. All patients included were male, 6 months to 16 years of age.

Proc Nat Acad Sci.

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 Individual exons encode the integral membrane domains of human myelin proteolipid protein. Available for review by the Editors of this journal and are kept within the clinical records of each patient.


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.

PMD corresponds to a larger group of neurological phenotypes known as PLP1 related disorders, all being allelic diseases: A wide range of mutations desadrollo PLP1 has been described, recurrently detecting a whole gene duplication as the most frequent alteration 1718 Interestingly, it has been described NS affected individuals to have a multifocal demyelinating neuropathy 812 sometimes being the only clinical feature of the syndrome; NS patients do not present with nystagmus, their spastic paraplegia is mild, affecting primarily the lower limbs, and ataxic compromise may vary.

Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, in five cases, whereas the connatal phenotype was only desarrollo in two of the patients, PLP1 gene dosage alterations duplications were found in Most of mutations detected on individuals diagnosed with SPG2 are missense 8.

Both patients with the connatal form of the disease had severe disability scores and poor vital prognosis, despite having the chance desarrrollo an earlier diagnosis.

Saray Esther Polo Polo

Along with the high clinical suspicion, supporting neuroimaging and molecular analysis permit an appropriate genetic counselling. Diffuse compromise of retinocorial pathways with axonal lost pattern.

It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school. Only three patients were able to achieve gait, though altered.

Calaméo – Saray Esther Polo Polo

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. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Among other differential diagnosis we can count Krabbe disease, Canavan disease, other leukodystrophies and cerebral palsy. 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.


This variants express as a compromise of two functional domains of the PLP1 protein: On the other hand, NS patients suffer from a less harmful condition also caused by large deletions or damaging mutations resulting in loss of PLP1 protein product.

Classic PMD affected males also have improved cognitive development, with acceptable speech.

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Hobson GM, Kamholz J. Case series presentation Seven individuals ages 6 months to 16 years 4 probands, 3 male relatives of the probandsdiagnosed clinically, paraclinically and molecularly as Pelizaeus Merzbacher patients, attended in different medical care centers in Colombia Fig. Classic PMD is characterized in the first stages of disease by nystagmus, hypotonia and tremor in male affected patients, joint progressively by ataxia abeviada spastic quadriparesis in the school age.

Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no escaka of PMD affected males who have descendants 9. We present one of the first Latin-American series dfl 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.