Colomb Medica
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A Savior Sibling is a child who is born to provide an organ, bone marrow or cell transplant, to a sibling that is affected with a fatal disease. There are created with the in vitro fertilization and pre-implantation genetic diagnosis and, in the process, the ethical standards for organ donation of children become less demanding. ⋯ We develop a critical analysis of the laws that regulate the creation of babies to serve as organ donors. We evaluate under what circumstances the organizations that play a part in the decisions, fulfill the ethical standards to allow the organ donation of children.
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Primary stabbing headache (or "ice pick headache") is an alteration characterized by brief jabs (short stabs of pain, lasting ~3 seconds), which appear spontaneously, irregularly, and affecting unilaterally or bilaterally. Indomethacin has traditionally been used as the main therapeutic option. However, this drug is ineffective in a considerable percentage of patients and can generate multiple adverse effects that occur at therapeutic doses. ⋯ Melatonin may be an effective and safe therapeutic option for the treatment of primary stabbing headache in pediatric patients. It is necessary to deepen its research, in order to establish its use in a clinical practice guide.
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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.
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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.