Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1

AbstractWe are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas. Pulmonary function tests revealed a mild decrease of forced vital capacity. Nocturnal polysomnography showed an increase of apnea/hypopnea index (85.9 events/h), mainly of central type (236), minimal oxygen saturation of 72%, and end-tidal carbon dioxide values that varied from 45 to 53 mmHg.Bi-level positive airway pressure titration was initiated at an inspiratory pressure (IPAP) of 8 and an expiratory pressure (EPAP) of 4 cm H2O. IPAP was then gradually increased to eliminate respiratory events and improve oxygen saturation. An IPAP of 12cm H20 and an EPAP of 4cm H2O eliminated all respiratory events, and the oxygen saturation remained above 90%.Bi-level positive airway pressure treatment at spontaneous/timed mode showed an improvement in snoring, apneas, and Epworth sleepiness scale decreased from 20 to 10. This case illustrates the beneficial effects of Bi-level positive airway pressure support in central sleep apnea syndrome of a patient with myotonic dystrophy type 1

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1

We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas. Pulmonary function tests revealed a mild decrease of forced vital capacity. Nocturnal polysomnography showed an increase of apnea/hypopnea index (85.9 events/h), mainly of central type (236), minimal oxygen saturation of 72%, and end-tidal carbon dioxide values that varied from 45 to 53 mmHg. Bi-level positive airway pressure titration was initiated at an inspiratory pressure (IPAP) of 8 and an expiratory pressure (EPAP) of 4 cm H2O. IPAP was then gradually increased to eliminate respiratory events and improve oxygen saturation. An IPAP of 12cm H20 and an EPAP of 4cm H2O eliminated all respiratory events, and the oxygen saturation remained above 90%. Bi-level positive airway pressure treatment at spontaneous/timed mode showed an improvement in snoring, apneas, and Epworth sleepiness scale decreased from 20 to 10. This case illustrates the beneficial effects of Bi-level positive airway pressure support in central sleep apnea syndrome of a patient with myotonic dystrophy type 1

Upper limb function in ambulatory and non-ambulatory patients with Duchenne muscular dystrophy

New treatments proposed for patients with Duchenne muscular dystrophy (DMD) have their efficacy evaluated by lower limb tests. However, upper limb function tests evaluate both ambulatory (A) and non-ambulatory (NA) people. Thus, this work aimed to compare the upper limb function of patients A and NA with DMD and to correlate disease staging and upper limb function. This is a cross-sectional study in which patients were divided into A and NA according to the Vignos scale. Subsequently, the upper limb function was evaluated by the performance of upper limb (PUL) scale. The independent t-test, chi-square test, Mann-Whitney test, linear regression and Spearman’s correlation test were performed by SPSS, version 22. The research dealt with 51 patients, 20 A and 31 NA. There were differences between the groups reference age (p=0.001), body mass index (BMI) (p=0.016), schooling (p=0.011), Vignos score (p<0.001) and upper limb function (p<0.001). The linear regression analysis showed that whether the patient was A or NA influenced the upper limb function in 18 points on the PUL scale. There was a strong correlation between disease staging and upper limb function (r2=−0.769, p<0.001). The functional condition of the upper limb depends on whether the patient is A or NA, being worse function in NA patients. We concluded that the upper limb function has a strong correlation with the staging of the disease.Novos tratamentos propostos para os pacientes com distrofia muscular de Duchenne (DMD) têm sua eficácia avaliada por testes de membros inferiores. Contudo, os testes funcionais de membros superiores (MMSS) avaliam tanto deambuladores (D) como não deambuladores (ND). Assim, este estudo se propôs a comparar a funcionalidade de MMSS de pacientes D e ND com DMD e correlacionar o estadiamento da doença e a função de MMSS. Trata-se de um estudo transversal no qual os pacientes foram divididos em D e ND de acordo com a escala Vignos. Posteriormente, a funcionalidade dos MMSS foi avaliada pela escala performace of upper limb (PUL). Foi realizado o teste t independente, teste qui-quadrado, teste Mann-Whitney, regressão linear e teste de correlação de Spearman pelo programa SPSS, versão 22. A pesquisa foi composta de 51 pacientes, sendo 20 D e 31 ND. Houve diferença entre os grupos em relação à idade (p=0,001), ao índice de massa corporal (IMC) (p=0,016), à escolaridade (p=0,011), quanto ao escore na escala Vignos (p<0,001) e na função dos MMSS (p<0,001). Na análise de regressão linear observamos que o paciente ser D ou ND influencia na função dos MMSS em 18 pontos na escala PUL. Houve forte correlação entre o estadiamento da doença e a função de MMSS (r2=−0,769, p<0,001). A condição funcional dos MMSS depende se o paciente é D ou ND, sendo pior nos ND. Concluiu-se que a função de MMSS tem forte correlação com o estadiamento da doença.Se evalúa la eficacia de los nuevos tratamientos propuestos para pacientes con distrofia muscular de Duchenne (DMD) mediante pruebas de miembros inferiores. Sin embargo, las pruebas funcionales de las extremidades superiores (MMSS) evalúan tanto a los caminantes (C) como a los no caminantes (NC). Este estudio tuvo como objetivo comparar la funcionalidad de MMSS de pacientes C y NC con DMD y correlacionar la estadificación de la enfermedad y la función de MMSS. Este es un estudio transversal en el cual se dividieron a los pacientes en C y NC, según la escala de Vignos. Posteriormente, se evaluó la funcionalidad de las extremidades superiores utilizando la escala de rendimiento de la extremidad superior (PUL). La prueba t independiente, la prueba de chi-cuadrado, la prueba de Mann-Whitney, la regresión lineal y la prueba de correlación de Spearman se realizaron utilizando el programa SPSS, versión 22. Participaron 51 pacientes, de los cuales 20 C y 31 NC. Hubo una diferencia entre los grupos con respecto a la edad (p=0,001), índice de masa corporal (IMC) (p=0,016), nivel de estudios (p=0,011), con respecto al puntaje en la escala de Vignos (p < 0,001) y la función de los MMSS (p<0,001). En el análisis de regresión lineal, observamos que ser C o NC influye en la función de las extremidades superiores en 18 puntos en la escala PUL. Hubo una fuerte correlación entre la estadificación de la enfermedad y la función de los MMSS (r2=−0.769, p<0,001). La condición funcional de los MMSS depende si el paciente es C o NC, empeorando cuando NC. Se concluyó que la función de los MMSS tiene una fuerte correlación con la estadificación de la enfermedad