Colomb Medica
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Comparative Study
Clinical differences between children with asthma and rhinitis in rural and urban areas.
Epidemiological studies have shown that children who grow up on traditional farms are protected from allergic diseases. However, less is known about if the environment influences the pharmacotherapy in these patients. ⋯ Patients with respiratory allergies located in urban area require more pharmacotherapy and have less clinical response than rural children.
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Case Reports
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.
Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity. ⋯ According to these findings, as authors we propose the diagnostic algorithm in Colombian population to begin on a high clinical suspicion, followed by paraclinical extension, moving on to the molecular confirmation by using approaches to simultaneously sequence the PLP1 gene in order to detect point mutations and in/dels and performing a copy number variation analysis for the detection of gene dosage alterations.