4 years ago. Escala Abreviada De Desarrollo Unicef Colombia. Explicit content. Escala Abreviada De Desarrollo Unicef Co 4 years ago. GUIAS ALAD Trabajo presentado con los auspicios de UNICEF, en el Curso Internacional sobre Escala Abreviada de Desarrollo (Ministerio de Salud – Nelson Ortiz. Escala Abreviada del Desarrollo Psicosocial. [Internet]. Disponible en: http:// 8. Silvestre N.
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Classic PMD is characterized in the first stages of disease by nystagmus, hypotonia and tremor in male affected patients, joint progressively by ataxia and spastic quadriparesis in the school age. The proteolipid protein gene and myelin disorders in man and animal models.
Q99X nonsense variant in two patientsand in one patient the c.
I47Ta missense variant classified as pathogenic, and escalla previously unreported alterations, the c. Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease metabolic abnormalities as diagnostic tools. Age at diagnosis 5 yr 11 ms. They underwent clinical evaluations, neuroimaging i. Eur J Hum Genet. Results from the paraclinical evaluation of patients with Pelizaeus Merzbacher Disease.
Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
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Among other differential diagnosis we can count Krabbe disease, Canavan disease, other leukodystrophies and cerebral palsy.
Given the location of the causal gene, PMD is inherited in a X-linked recesive manner 3.
Its genetic etiology affects the expression of the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Xq Proc Nat Acad Sci. Copies of the written consents are. Frequently, the connatal form of PMD is expressed during the first weeks of life, through key findings in the clinical neurological examination, that include pendular nystagmus, hypotonia and laryngeal stridor; later in life, seizures and sever motor deficits appear, and hypotonia turns to weakening limb spasticity; affected patients may never walk Its genetic aetiology can be either a duplication or other gene dosage alterations or a punctual mutation at the PLP1 locus.
Although clinical manifestations are heterogeneous 56the most relevant neurological signs are nistagmus, developmental delay, spasticity, along with neuroimaging supporting aberrant myelination of the Central Nervous System CNS compromising primarily the periventricular white matter, with a tigroid striation pattern that responds to the conservation of myelinated islets, and also an alteration of the N-acetyl aspartate and choline profiles on the brain magnetic resonance spectroscopy 57.
A wide range of mutations in PLP1 has been described, recurrently detecting a whole gene duplication as the most frequent alteration 1718 PV white matter irregular signal on T2. In order to evaluate the impact of the molecular alterations detected, we used softwares as PolyPhen – 2 v. This study was approved by the ethics committee of the Faculty of Medicine of Universidad Nacional.
Escala Abreviada de Desarrollo Unicef Colombia scribdcom –
Estudios Moleculares y Resultados: 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. Laboratory endpoints are shown in Table 2. In spite of the incapacitating character of this disease, patients with less ubicef or moderate forms of PMD have rather normal life expectancy, but unice are records of patients with severe classical forms who died past the second decade of life.
Severe compromise of physiological tresholds. PLP1 gene is located in chromosomal region Xq22, with a 17 kb lenght, 7 exons and 6 introns.
As for the two patients who had diagnosis of connatal PMD, it was documented both had experienced swallowing or deglutory disorders, history of seizures, microcephaly in just one of them and maturational ages in danger zones according to the WHO Abbreviated Scale of Psychosocial Development WHO Abbreviated Scale of Psychosocial Development, https: Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease Translated title es: It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school.
Hobson GM, Kamholz J. The espectrum of PLP1 gene mutations in patients with classical form of the Pelizaeus Merzbacher disease.
For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested. All patients included were male, 6 months to 16 years of age.
Discussion 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.
No head support or crawling. All patients were male, 6 months to 16 years of age, one of them died by the age of esca,a due to complications of a respiratory infection. Conclusions To our knowledge, this is not only one of first Latin-American case series but the larger one, presenting the main characteristics of the clinical diagnosis and molecular signatures of PMD male affected patients, being the classical form overall more frequent than the connatal form.
PLP1 gene dosage alterations duplications were found in Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and esxala.
Am J Hum Genet. Only three patients were able to achieve gait, though altered. Note that patients are cited on the tables with their assigned pedigree numbers. 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.
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
Z Ges Neurol Psychiatr. 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.
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 a 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 desarrlllo function of myelinated axons 38.
Mean age at diagnosis was 5 years 5 months, being classic PMD most escalla diagnosed, as compared to the abrevlada phenotype. Because of this, it is a priority for the desarrrollo specialists and treating physicians to improve the diagnosis algorithms in order to shorten time before establishment of the specific therapeutic plan and the appropriate genetic counseling for the families.
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Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no reports of Unnicef affected males who have descendants 9.
Orphanet J Rare Dis. Exon 1 only transcribes the start codon, while exons 2, 3, 4, and 5 encode the hydrophobic domains and the hydrophilic chains of the protein.