Medicina clinica
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Sleep apnea-hypopnea syndrome is an underdiagnosed medical condition which is gainingin importance. It is associated with cardiovascular disease, stroke, hypertension, insulin resistance and traffic accidents, resulting in deterioration of quality of life and increased mortality in these patients. The most characteristic symptoms of the disease are snoring, documented apnoeas and excessive daytime sleepiness. ⋯ Besides making lifestyle changes, the treatment of choice is continuous positive airway pressure. Some surgical techniques may be useful in the treatment of sleep apnoea-hypopnoea syndrome. In patients who cannot tolerate continuous positive airway pressure, are not candidates for surgery or have a high surgical risk intraoral devices might be used.
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Practice Guideline
[Cardiovascular management of patients with chronic myeloid leukemia from a multidisciplinary perspective, and proposing action protocol by consensus meeting].
The second generation tyrosine kinase inhibitors (TKI, dasatinib and nilotinib) used in chronic myeloid leukemia (CML) treatment have shown a benefit compared to imatinib in responses achieved and disease progression. However, both have been related to some cardiovascular toxicity, being more frequent in patients with cardiovascular risk factors (CVRFs). Nowadays, due to the lack of recommendations for CML patients, CVRF management is carried out heterogeneously. The aim of this work is to develop recommendations on the prevention and monitoring of cardiovascular events (CVD) in patients with CML treated with TKIs. ⋯ TKI treatment requires comprehensive patient management from a multidisciplinary approach, in which both the prevention and management of CVRFs are essential.
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To describe a new molecular variant of Niemann-Pick disease type C (NPC) in a 27 year-old patient with splenomegaly and abolition of osteotendinous reflexes. ⋯ p.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms.