Colomb Medica
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Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. ⋯ Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.
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Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis. ⋯ Megaloblastic anemia produces a heterogeneous involvement of hematopoiesis, characterized by a greater size and cellular complexity of precursors of the neutrophil and erythroid series and a maturation arrest of the erythroblasts.
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Sexual life of women with chronic obstructive pulmonary disease (COPD) can be affected by breathing difficulties, a decrease in functional status, depressive mood and fatigue. ⋯ Sexual dysfunction is reported in many COPD females and seems to be related not to spirometric measures or exercise capacity but to fatigue. Depression is also a common comorbidity, of which both disorders are often neglected.
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The school population represents a fundamental group for health promotion actions, given that the foundations of healthy behaviors in adult life are established in children and adolescents, who can be greatly influenced by the school. ⋯ The ENSE shows critical inequalities by gender, ethnicity and social class, throughout the country. The indicators observed in schoolchildren are precursors of various chronic and degenerative diseases and mental illness, which requires the urgent attention of the different social actors in the country.