Subject(s)
Humans , Coronavirus Infections/epidemiology , Pandemics , Immunization Programs , Influenza, Human , NursesABSTRACT
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Subject(s)
Humans , Achondroplasia/epidemiology , Dwarfism/diagnosis , Dwarfism/psychology , Nursing Care , Risk Factors , Professional-Family RelationsABSTRACT
OBJECTIVES: to describe the frequency of sleep apnea in patients with acromegaly;to identify the proportion of candidates for treatment with positive airway pressure;to report our experience with the positive pressure titration process in acromegaly patients. METHODS: A cross-sectional study that included the acromegaly cohort at the Centro Medico Nacional "20 de Noviembre" in Mexico City (n=44). A standard polysomnography (PSG) was carried out for each patient. A second PSG was done for purposes of CPAP titration. RESULTS: A total of 35 patients were studied (80% of the cohort, 20 [57%] women). Polysomnography results showed that 34 subjects (97%, 95%CI 91-100%) had apnea hypopnea indexes (AHI) ≥ 5. No patient had central apnea. We identified 19 subjects with AHI ≥5 and Epworth ≥10, for a frequency of obstructive sleep apnea syndrome of 54% (95%CI 36-71%). A total of 31 patients (88%; 95%CI 77-99%) were deemed to be candidates for positive pressure treatment, but only 8 of them accepted CPAP. They required pressures that ranged from 10 to 18 cmH(2)O. CONCLUSIONS: Our results confirm a high prevalence of sleep apnea in patients with acromegaly, and provide evidence that the majority of those patients are candidates for treatment with positive pressure. Contrary to what has been reported, we identified no patients with central apnea.
ABSTRACT
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. METHODS: We determined by PCR and capillary electrophoresis the number of ataxin2 gene CAG repeats in 66 individuals belonging to 3 families, clinically diagnosed with SCA2, and 400 subjects from a sample of the mestizo Mexican population. RESULTS: The CAG repeat expansion was found in 11 symptomatic subjects and four asymptomatic individuals, confirming the SCA2 clinical diagnosis in two out of the three families studied. We noted that patients with longer CAG repeat numbers have an early disease onset, a phenomenon known as anticipation. Wild-type alleles showed a CAG repeat range between 13 and 30, and the allele carrying 22 CAG repeats was the most common among our sample. Mutant alleles also displayed a range between 36 and 54 CAG repeats. CONCLUSIONS: The identification of the CAG repeat expansion facilitates an accurate SCA2 diagnosis.
