Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

BACKGROUND: Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing. METHODS: Retrospective comparative study of polysomnographic data from six patients with LS were reviewed and compared with 18 age-sex-AHI-matched patients with OSA, with particular attention to cardiorespiratory and sleep architecture metrics. RESULTS: Sleep architecture and stage duration were conserved in LS and OSA groups, but increased wake after sleep onset was seen among the first group. The LS group exhibited both obstructive and central sleep apnea. The group also had significantly greater values of heart rate, ≥3% oxygen desaturation index, and lower values of sleep efficiency, respiratory arousal index, and total sleep time when compared with the OSA group. CONCLUSIONS: Patients with LS exhibited significantly more sleep-related cardiorespiratory disturbances and sleep fragmentation when compared with neurotypical children with OSA. Given that these findings are plausibly detrimental to health and development, sleep evaluation in patients with similar conditions should be encouraged for early management.

Monitoreo continuo de glucosa durante la gestación en pacientes con diabetes mellitus tipo 2 pregestacional

La diabetes pregestacional requiere un control glicémico estricto durante el embarazo. Los dispositivos de monitoreo continuo de glucosa (MCG) miden niveles de glucosa intersticial sin necesidad de punción capilar. Se estudió 4 gestantes con diabetes mellitus tipo 2 pregestacional con la ayuda del MCG durante 2 semanas de su gestación. Ellas tuvieron sesiones nutricionales semanales y controles médicos con un endocrinólogo. El promedio de nivel de glucosa osciló entre 82 y 171 mg/dL. El MCG permitió cambios tempranos en el tratamiento de una paciente con hipoglicemia. Todas las pacientes manifestaron que el MCG les ayudó en la selección de sus alimentos. En conclusión, el MCG ayudó en el reconocimiento de carbohidratos y en el reajuste del tratamiento. El MCG tuvo buena aceptación de su uso.

Pregestational diabetes requires strict glycemic control during pregnancy. Continuous glucose monitoring (CGM) devices measure interstitial glucose levels without the need for capillary puncture. Four pregnant women with pregestational type 2 diabetes mellitus were studied with the aid of CGM during 2 weeks of their gestation. They had weekly nutritional sessions and medical controls with an endocrinologist. The average glucose level ranged from 82 to 171 mg/dL. The CGM allowed early changes in the treatment of one patient with hypoglycemia. All patients stated that the GCM helped them in their food selection. In conclusion, the GCM helped in carbohydrate recognition and treatment readjustment. The CGM was well accepted for use.

Acute Altitude Acclimatization in Young Healthy Volunteers: Nocturnal Oxygenation Increases Over Time, Whereas Periodic Breathing Persists.

Ju, Jia-Der, Cristian Zhang, Francis P. Sgambati, Lidia M. Lopez, Luu V. Pham, Alan R. Schwartz, and Roberto A. Accinelli. Acute altitude acclimatization in young healthy volunteers: nocturnal oxygenation increases over time whereas periodic breathing persists. High Alt Med Biol. 22:14-23, 2021. Study Objectives: This study aimed to examine the acute effects of high altitude (HA) on sleep disordered breathing (sleep apnea and nocturnal hypoxemia) and acute mountain sickness and to characterize acclimatization over time. Methods: Ten native lowlanders residing at sea level (SL) completed the Lake Louise Score (LLS) and underwent nocturnal polygraphy (ApneaLink Plus) for nine consecutive nights (N1-N9) at HA (2,761 m) and two nights before and after HA. Nocturnal oxygen profiles were assessed by measuring the mean nocturnal oxyhemoglobin saturation (SpO2) during sleep, and sleep apnea severity as assessed by measuring the Apnea-Hypopnea Index (AHI). Mixed-effects linear regression was used to model responses in outcomes (mean nocturnal SpO2, logAHI, and LLS) between HA and SL. Changes in SpO2 and AHI were examined in subgroups with mild versus marked nocturnal SpO2 and low versus high AHI during exposure to HA and compared between subgroups. Results: Compared with SL, the mean nocturnal SpO2 was lower (p < 0.0001) and AHI was higher (p < 0.0001) at HA. The mean nocturnal SpO2 increased progressively (p < 0.001), whereas AHI remained high (p < 0.978) and relatively unchanged over nine successive nights at HA. Those with markedly reduced SpO2 upon arrival at HA exhibited progressive increases in the mean nocturnal SpO2 over time at HA compared with those with mild nocturnal desaturation. LLS rose at HA, but no differences were observed between subgroups. Conclusions: In healthy HA sojourners, the mean nocturnal SpO2 increased progressively over time, whereas AHI remained elevated, suggesting distinctive phenotypes and acclimatization responses to HA.