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L'apnée obstructive du sommeil (AOS) est un problème de santé important, affectant jusqu’à 38% de la population générale et augmentant en prévalence avec l’âge. L'AOS mène à une hypoxémie intermittente, une fragmentation du sommeil et des changements de flot sanguin qui peuvent provoquer des dommages vasculaires et neuronaux. Récemment, des anomalies de flot sanguin cérébral (FSC) mesurées à l’éveil ont été observées chez les adultes présentant de l’AOS sévère. On ne sait toutefois pas si ces anomalies s’accentuent avec le temps et si le traitement de l'AOS (généralement la pression positive continue - PPC) peut diminuer ces anomalies chez les personnes âgées. Ainsi, ce projet de maîtrise vise à déterminer si le traitement par PPC d’une durée de 18 mois chez les personnes apnéiques de plus de 55 ans normalise le FSC mesuré en tomographie d'émission monophotonique. De plus, ce projet vise à investiguer les effets à moyen-terme de l'AOS non traitée relativement à un groupe contrôle. Nous avons émis l’hypothèse que les sujets avec de l'AOS traitée par PPC auront des augmentations de FSC dans des régions précédemment hypoperfusées alors que les individus avec l'AOS non traitée auront des diminutions de FSC à travers le temps dans des régions sensibles à l’AOS. Nous avons évalué 12 participants contrôles et 23 participants nouvellement diagnostiqués avec de l’AOS. Ces-derniers ont été référés à une clinique d’AOS et 13 d’entre eux ont suivi un traitement par PPC. Pour l’analyse de l’imagerie par émission monophotonique, nous avons utilisé une méthode basée sur le voxel ainsi qu’une méthode d’extraction pour mesurer les changements à travers le temps dans chacun des groupes. Nous avons observé une augmentation du FSC chez le groupe traité au niveau du gyrus temporal inférieur gauche. De plus, nous avons observé des diminutions de FSC chez le groupe non traité au niveau de l’hippocampe gauche, du gyrus parahippocampal droit et du pôle temporal supérieur gauche. Aucun changement n’a été observé chez le groupe contrôle. Les diminutions de FSC observées dans le groupe non traité pourraient être causées par les conséquences de l’AOS, notamment par une combinaison de diminution du calibre vasculaire et une perte cellulaire. En éliminant ces mécanismes pathologiques, le traitement par PPC permettrait une revascularisation et une prolifération cellulaire. Puisque les régions cérébrales affectées par l’AOS dans ce projet sont associées au déclin cognitif, d’autres études sont nécessaires pour clarifier le lien entre l’AOS, son traitement et la démence. / Obstructive sleep apnea (OSA) is an important health problem, affecting up to 38% of the general population and increasing in prevalence with age. OSA causes blood flow changes leading to vascular and neuronal damage. Indeed, decreases in regional cerebral blood flow (rCBF) have been observed in OSA. The treatment of OSA is continuous positive airway pressure (CPAP). CPAP treatment has been associated with increases in rCBF. However, studies evaluating rCBF in OSA were predominantly composed of middle-aged people. Therefore, we don’t know if these results could be generalized to the aging population. Thus, this master's project aims to determine whether an 18-month CPAP treatment for apneic individuals older than 55 years normalizes the rCBF measured in single-photon emission computed tomography. In addition, this project aims to investigate the longitudinal effects of untreated OSA relative to a control group. We hypothesized that treated subjects will have rCBF increases in previously hypoperfused regions while individuals with untreated OSA will have decreased rCBF over time in OSA-sensible regions. We evaluated 12 control participants and 23 newly diagnosed participants with OSA. The latter were referred to an OSA clinic and 13 of them followed a CPAP treatment. For the analysis of single photon emission imaging, we used a voxel-based method and an extraction method to measure changes over time in each of the groups. We observed an increased rCBF in the treated group in the left inferior temporal gyrus. In addition, we observed decreased rCBF in the untreated group in the left hippocampus, the right parahippocampal gyrus, and left superior temporal pole. No change was observed in the control group. The decreased rCBF seen in the untreated group could be caused by the consequences of OSA, including a combination of decreased blood vessels caliber and cell loss. By eliminating these pathological mechanisms, CPAP treatment would allow revascularization and cell proliferation. Since brain regions affected by OSA in this project are associated with cognitive decline, further studies are needed to clarify the link between OSA, its treatment, and dementia.

Objetivos: Comparar os efeitos de um mês de tratamento com aparelho de pressão aérea positiva (CPAP) e com placebo sobre a aparência e características objetivas da pele da face de pacientes com apneia obstrutiva do sono (AOS), num estudo randomizado e cruzado. Métodos: Foram incluídos pacientes consecutivos com AOS grave e sonolentos. Os pacientes realizaram três polissonografias (PSG): a primeira para confirmação da AOS e outras duas adicionais com uso de placebo (dilatador nasal) e para titulação de CPAP, antes do início de cada tratamento. Todos os pacientes foram aleatoriamente alocados em dois grupos de tratamento: 1) uso do placebo e 2) uso do CPAP. Após um mês com o primeiro tratamento e 15 dias de washout, houve cruzamento para o segundo tratamento. A face dos pacientes foi fotografada de modo padronizado nos três momentos experimentais. As fotografias foram apresentadas, em ordem aleatória, pelo Qualtrics Survey Software, e avaliadas on-line por 704 observadores para quantificação da aparência saudável (nada saudável até extremamente saudável), atraente (nada atraente até extremamente atraente) e cansada (nada cansada até extremamente cansada). A idade aparente também foi perguntada para cada observador. Foram realizadas avaliações quantitativas das características da pele da face dos pacientes, em cada momento experimental, incluindo a presença de acne, manchas, porosidade, rugas, textura, e uniformidade do tom da pele, por meio da captação de imagens pelo equipamento VISIATM System. Resultados: Foram avaliados 30 pacientes (idade=46±9 anos; 21 homens). Os pacientes utilizaram o placebo em 98% das noites do período de tratamento e a adesão ao CPAP foi de 94% das noites, com média de 6,0 ± 1,7 horas de uso por dia de tratamento. Após o tratamento com CPAP, em comparação ao momento basal e após tratamento placebo, foi observada melhora na qualidade objetiva do sono, sonolência, qualidade de vida e sintomas depressivos (P < 0,05). A avaliação das fotografias pelos observadores mostrou que os pacientes foram identificados como mais jovens após o uso de CPAP (P < 0,001), mas não foram observadas alterações quantitativas das características da pele da face, em comparação com o momento basal e após o uso de placebo. A análise de regressão linear identificou que a quantidade de dias de tratamento com CPAP, o tempo total de sono e a porcentagem do tempo total de sono com saturação de oxihemoglobina abaixo de 90% foram preditores da diminuição da idade atribuída após o uso de CPAP. Conclusão: Os pacientes com AOS graves e sonolentos apresentaram aparência mais jovem após um mês de tratamento com CPAP / Objectives: To compare the effects of one month with continuous positive airway pressure (CPAP) treatment and placebo intervention on the appearance and objective facial skin characteristics of patients with obstructive sleep apnea (OSA) in a randomized crossover study. Methods: Consecutive sleepy patients with severe OSA were included. The patients underwent three polysomnograms (PSG): first one to confirm OSA and two additional ones using placebo (nasal dilator) and for CPAP titration before starting each treatment period. All patients were randomly included into two treatment groups: 1) placebo use and 2) CPAP use. After one month with the first treatment and 15 days of washout, patients were crossed-over for the second treatment. Photographs from the patients\' faces were obtained in the three experimental moments. The photographs were presented in a random order by the Qualtrics Survey Software, and were evaluated online by 704 observers for quantifying healthy appearance (unhealthy to extremely healthy), attractive (unattractive to extremely attractive) and tired (not tired to extremely tired). Apparent age was also rated for each observer. Quantitative evaluations of the skin characteristics of the patients\' faces were also carried out at each experimental moment, including the presence of acne, patches, porosity, wrinkles, texture, and skin tone uniformity, through the capture of images by VISIATM System equipment. Results: 30 patients (age = 46±9 years, 21 men) were evaluated. During treatment period, the patients wearing placebo intervention on 98% of the nights and adherence to CPAP was 94%, with a mean of 6.0 ± 1.7 hours of use per day of treatment. After CPAP treatment, compared to baseline and after placebo treatment, improvement in the objective sleep quality, sleepiness, quality of life and depressive symptoms were observed (P <0.05). Observational assessment of the photographs showed that patients were evaluated as being younger after using CPAP (P < 0.001), but no quantitative changes in face skin characteristics were observed compared to the baseline and after the use of placebo. Linear regression analysis identified the number of days with CPAP treatment, total sleep time and percentage of total sleep time with oxyhemoglobin saturation below 90% were predictors of decreasing of rated age after CPAP treatment. Conclusion: Sleepy patients with severe OSA had a younger appearance after one month of CPAP treatment

Objetivos: Comparar os efeitos de um mês de tratamento com aparelho de pressão aérea positiva (CPAP) e com placebo sobre a aparência e características objetivas da pele da face de pacientes com apneia obstrutiva do sono (AOS), num estudo randomizado e cruzado. Métodos: Foram incluídos pacientes consecutivos com AOS grave e sonolentos. Os pacientes realizaram três polissonografias (PSG): a primeira para confirmação da AOS e outras duas adicionais com uso de placebo (dilatador nasal) e para titulação de CPAP, antes do início de cada tratamento. Todos os pacientes foram aleatoriamente alocados em dois grupos de tratamento: 1) uso do placebo e 2) uso do CPAP. Após um mês com o primeiro tratamento e 15 dias de washout, houve cruzamento para o segundo tratamento. A face dos pacientes foi fotografada de modo padronizado nos três momentos experimentais. As fotografias foram apresentadas, em ordem aleatória, pelo Qualtrics Survey Software, e avaliadas on-line por 704 observadores para quantificação da aparência saudável (nada saudável até extremamente saudável), atraente (nada atraente até extremamente atraente) e cansada (nada cansada até extremamente cansada). A idade aparente também foi perguntada para cada observador. Foram realizadas avaliações quantitativas das características da pele da face dos pacientes, em cada momento experimental, incluindo a presença de acne, manchas, porosidade, rugas, textura, e uniformidade do tom da pele, por meio da captação de imagens pelo equipamento VISIATM System. Resultados: Foram avaliados 30 pacientes (idade=46±9 anos; 21 homens). Os pacientes utilizaram o placebo em 98% das noites do período de tratamento e a adesão ao CPAP foi de 94% das noites, com média de 6,0 ± 1,7 horas de uso por dia de tratamento. Após o tratamento com CPAP, em comparação ao momento basal e após tratamento placebo, foi observada melhora na qualidade objetiva do sono, sonolência, qualidade de vida e sintomas depressivos (P < 0,05). A avaliação das fotografias pelos observadores mostrou que os pacientes foram identificados como mais jovens após o uso de CPAP (P < 0,001), mas não foram observadas alterações quantitativas das características da pele da face, em comparação com o momento basal e após o uso de placebo. A análise de regressão linear identificou que a quantidade de dias de tratamento com CPAP, o tempo total de sono e a porcentagem do tempo total de sono com saturação de oxihemoglobina abaixo de 90% foram preditores da diminuição da idade atribuída após o uso de CPAP. Conclusão: Os pacientes com AOS graves e sonolentos apresentaram aparência mais jovem após um mês de tratamento com CPAP / Objectives: To compare the effects of one month with continuous positive airway pressure (CPAP) treatment and placebo intervention on the appearance and objective facial skin characteristics of patients with obstructive sleep apnea (OSA) in a randomized crossover study. Methods: Consecutive sleepy patients with severe OSA were included. The patients underwent three polysomnograms (PSG): first one to confirm OSA and two additional ones using placebo (nasal dilator) and for CPAP titration before starting each treatment period. All patients were randomly included into two treatment groups: 1) placebo use and 2) CPAP use. After one month with the first treatment and 15 days of washout, patients were crossed-over for the second treatment. Photographs from the patients\' faces were obtained in the three experimental moments. The photographs were presented in a random order by the Qualtrics Survey Software, and were evaluated online by 704 observers for quantifying healthy appearance (unhealthy to extremely healthy), attractive (unattractive to extremely attractive) and tired (not tired to extremely tired). Apparent age was also rated for each observer. Quantitative evaluations of the skin characteristics of the patients\' faces were also carried out at each experimental moment, including the presence of acne, patches, porosity, wrinkles, texture, and skin tone uniformity, through the capture of images by VISIATM System equipment. Results: 30 patients (age = 46±9 years, 21 men) were evaluated. During treatment period, the patients wearing placebo intervention on 98% of the nights and adherence to CPAP was 94%, with a mean of 6.0 ± 1.7 hours of use per day of treatment. After CPAP treatment, compared to baseline and after placebo treatment, improvement in the objective sleep quality, sleepiness, quality of life and depressive symptoms were observed (P <0.05). Observational assessment of the photographs showed that patients were evaluated as being younger after using CPAP (P < 0.001), but no quantitative changes in face skin characteristics were observed compared to the baseline and after the use of placebo. Linear regression analysis identified the number of days with CPAP treatment, total sleep time and percentage of total sleep time with oxyhemoglobin saturation below 90% were predictors of decreasing of rated age after CPAP treatment. Conclusion: Sleepy patients with severe OSA had a younger appearance after one month of CPAP treatment

Acid maltase deficiency (AMD) is a rare autosomal recessive genetic disorder that results in an accumulation of glycogen in the lysosomal storage vacuoles. It is classified as a glycogen storage disease (type II) and is also known as Pompe's disease. The prognosis of the patient with AMD is poor and the main cause of death is respiratory failure. We report a female patient whose respiratory insufficiency was documented to occur most severely during rapid eye movement sleep and who benefited clinically from the institution of nocturnal noninvasive bilevel positive airway pressure.