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STUDY OBJECTIVES: The objective of this study was to discern distinguishing characteristics of sleep-related breathing disorders in individuals with chronic spinal cord injury (CSCI) compared with participants without CSCI. Additionally, the study investigated factors associated with sleep-related breathing disorder severity. METHODS: This is a cross-sectional analysis of 123 individuals without CSCI, 40 tetraplegics, and 48 paraplegics who underwent attended or partially supervised full polysomnography for suspected sleep-related breathing disorders in a rehabilitation center. Polysomnographic, transcutaneous capnography, and clinical data were collected and compared between the groups. RESULTS: Among tetraplegics, apnea-hypopnea index ≥ 30 events/h (67.5%, P = .003), central apnea (17.5%, P = .007), and higher oxygen desaturation index (80.0%, P = .01) prevailed. Sleep-related hypoventilation was present in 15.4% of tetraplegics and 15.8% of paraplegics, compared with 3.2% in participants without CSCI (P = .05). In the group without CSCI and the paraplegic group, snoring and neck circumference were positively correlated with obstructive sleep apnea (OSA) severity. A positive correlation between waist circumference and OSA severity was identified in all groups, and multivariate logistic regression analysis showed that loud snoring and waist circumference had the greatest impact on OSA severity. CONCLUSIONS: Severe OSA and central sleep apnea prevailed in tetraplegic participants. Sleep-related hypoventilation was more common in tetraplegics and paraplegics than in participants without CSCI. Loud snoring and waist circumference had an impact on OSA severity in all groups. We recommend the routine implementation of transcutaneous capnography in individuals with CSCI. We underscore the significance of conducting a comprehensive sleep assessment in the rehabilitation process for individuals with CSCI. CITATION: Souza Bastos P, Amaral TLD, Yehia HC, Tavares A. Prevalences of sleep-related breathing disorders and severity factors in chronic spinal cord injury and abled-bodied individuals undergoing rehabilitation: a comparative study. J Clin Sleep Med. 2024;20(7):1119-1129.

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La obesidad se ha convertido en una importante causa de comorbilidades, por lo cual es importante reconocer de forma temprana las enfermedades asociadas a esta afección, así como su tratamiento. El síndrome de hipoventilación del obeso o también llamado síndrome de Pickwick se ha definido por la triada de obesidad, hipoventilación diurna y respiración alterada durante el sueño, en ausencia de otra enfermedad que explique las alteraciones respiratorias. Se presenta el caso de un paciente de 53 años de edad, de color de piel blanca, masculino, de procedencia urbana, con antecedentes patológicos personales de hipertensión arterial, artritis gotosa, obesidad mórbida, angina de pecho inestable, episodios previos de fibrilación auricular y síndrome de Pickwick sin tratamiento para ello. El día 12 de febrero del 2023 fue traído por sus familiares al Hospital Dr. Gustavo Aldereguía Lima de la provincia Cienfuegos, por presentar, desde hacía siete días atrás, dificultad para respirar, fiebre de 39 ºC, y el día anterior había comenzado a expectorar con sangre. Se describen los procedimientos realizados y tratamientos ante cada complicación, hasta su fallecimiento. Por la importancia que tiene el diagnóstico, control y seguimiento a estos pacientes obesos con comorbilidades, para evitar desenlaces fatales, se decidió la presentación del caso.

Obesity has become an important cause of comorbidities, it is important to recognize the diseases associated with this condition early, as well as its treatment. Obese hypoventilation syndrome, also called Pickwick syndrome, has been defined by the triad of obesity, daytime hypoventilation and altered breathing during sleep, in the absence of another disease that explains the respiratory alterations. The case of a 53-years-old patient, white skin color, male, from urban origin, with a personal pathological history of high blood pressure, gouty arthritis, morbid obesity, unstable angina pectoris, previous episodes of atrial fibrillation and Pickwick syndrome without treatment for it, it is presented. On February the 12th, 2023, he was brought by his family to the Dr. Gustavo Aldereguía Lima Hospital in the Cienfuegos province, because he had had difficulty breathing, a fever of 39ºC, for seven days, and the day before he had begun to expectorate blood. The performed procedures and treatments for each complication are described, until his death. Due to the importance of diagnosis, control and follow-up of these obese patients with comorbidities, to avoid fatal outcomes, it was decided to present the case.

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STUDY OBJECTIVES: To evaluate the impact of positive airway pressure (PAP) therapy on body mass index (BMI) in patients with obesity hypoventilation syndrome (OHS) associated with obstructive sleep apnea (OSA). METHODS: A systematic review using the following terms: "obesity hypoventilation syndrome" AND "treatment" AND "randomized" using Cochrane Central Register of Controlled Trials, Medline and Web of Science was performed from the first data available until February 10, 2023. The inclusion criteria were: (1) original article; (2) adult OHS with concomitant OSA (apnea-hypopnea index or AHI ≥5 events/h); (3) randomized trial with PAP arm and standard care (control); (4) BMI evaluation at baseline and after the first months. We performed an individual participant data meta-analysis of randomized controlled trials. RESULTS: Our initial search retrieved 32 articles and 3 randomized studies fulfilled study criteria and were included in the final analysis, leading to a total of 342 participants. Patients were predominantly females (62%) and had OHS associated with at least mild OSA. As compared to baseline, a decrease in BMI was observed at study endpoint but this difference was not different intergroups (-0.50 ± 1.49 and -0.50 ±1.83, in control and PAP groups respectively (p=0.939)). Weight change was not associate with PAP adherence, OSA severity or use of supplemental oxygen. CONCLUSIONS: In contrast to treatment of eucapnic OSA with PAP that is associated with weight gain, treatment of OSA+OHS patients with or without PAP is associated with weight loss. Future studies are necessary to elucidate the mechanism by which weight loss occurs.

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There is a strong relationship between obstructive sleep apnea (OSA) and obesity hypoventilation syndrome (OHS). When OHS is combined with severe OSA, treatment consists of continuous positive airway pressure (CPAP), followed by noninvasive ventilation (NIV) in the case of CPAP failure. Currently, the impact of a previous use of CPAP on the quality of NIV is unknown. We conducted a cross-sectional study with OHS patients, to assess the quality of NIV according to previous CPAP use. We included 75 patients with OHS on NIV (65 women, 87%). Among these, 40 patients (53.3%) who had had prior CPAP (CPAP+ group) were compared to the remaining 35 patients (46.7%) (CPAP- group). Key characteristics were comparable between the CPAP+ and the CPAP- groups: age at diagnosis of OHS was 67 ± 3 vs. 66 ± 4 years (p = 0.8), age at inclusion was 73 ± 15 vs. 69 ± 15 years (p = 0.29), number of comorbidities was 3.7 ± 1.2 vs. 3.3 ± 1.5, the Charlson index was 5.1 ± 2 vs. 4.6 ± 1.8, and BMI was 41.6 ± 7.6 kg/m2 vs. 41.2 ± 8.2, respectively, all p > 0.05. Follow-up length was greater in CPAP+ vs. CPAP- patients (5.6 ± 4.2 vs. 2.9 ± 2.9 years, p = 0.001). The quality of NIV based on daily adherence, pressure support, apnea-hypopnea index (AHI) and leaks was similar in both groups. Reduced adherence (less than 4 h daily) was found in 10 CPAP+ patients (25%) versus 7 CPAP- patients (20%), p = 0.80. NIV efficacy was also similar. This study found no difference in the quality of NIV or in adherence between patients who had had prior CPAP and those who had not. Previous CPAP does not appear to improve the quality of NIV.

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Obesity hypoventilation syndrome (OHS) is a form of chronic respiratory insufficiency related to obesity that affects young and old people. Age appears to be associated with poorer response to treatment by nighttime ventilation. This study aimed to describe the characteristics of elderly subjects (>65 years) with OHS compared to younger patients, with a view to adapting therapy in older individuals. We conducted a retrospective study comparing socio-demographic, clinical, functional characteristics as well as treatment and outcomes between young (<65 years) and older (65 years and older) individuals with OHS at the University Hospital of Martinique. We included 143 patients (114 women), of whom 82 were 65 years or older (57%). Charlson index was higher in the older group. Patients in ≥65 years group were less frequently obese, but more frequently had diabetes mellitus, cardiac arrythmia and arterial hypertension compared to younger patients. There was no difference in the circumstances of diagnosis or arterial blood gas at diagnosis. At follow up, partial pressure of carbon dioxide (pCO2) was higher in ≥65 years group. Despite comparable NIV settings, apart from lower expiratory positive airway pressure (EPAP) with higher apnea-hypopnea index (AHI), patients in the ≥65-year-old group remained more frequently hypercapnic. In conclusion, over half (57%) of patients with OHS in our cohort were aged over 65 years. Older patients developed OHS at lower BMI levels than their younger counterparts, and more frequently, had comorbidities such as diabetes, hypertension and cardiac arrhythmia. Increased Charlson index, lower BMI and female sex were independent factors associated with OHS in the elderly.

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Obesity-hypoventilation syndrome (OHS) is a respiratory complication of obesity characterized by chronic hypercapnic respiratory failure. It is often associated with several comorbidities and is treated by positive airway pressure (PAP) therapy. This study aimed to identify factors associated with persistent hypercapnia in patients receiving home non-invasive ventilation (NIV). We performed a retrospective study including patients with documented OHS. In total, 143 patients were included (79.7% women, age 67 ± 15.5 years, body mass index 41.6 ± 8.3 kg/m2). After 4.6 ± 4.0 years of follow-up, 72 patients (50.3%) remained hypercapnic. In bivariable analysis, clinical data showed no difference in follow-up duration, number of comorbidities, comorbidities, or circumstance of discovery. Patients with persistent hypercapnia on NIV were generally older, with lower BMI and more comorbidities. (5.5 ± 1.8 versus 4.4 ± 2.1, p = 0.001), female sex (87.5% versus 71.8%), was treated by NIV (100% versus 90.1%, p < 0.01), had lower FVC (56.7 ± 17.2 versus 63.6 ± 18% of theoretical value, p = 0.04), lower TLC (69.1 ± 15.3 versus 74.5 ± 14.6% of theoretical value, p = 0.07), lower RV (88.4 ± 27.1 versus 102.5 ± 29.4% of theoretical value, p = 0.02), higher pCO2 at diagnosis (59.7 ± 11.7 versus 54.6 ± 10.1 mmHg, p = 0.01) and lower pH (7.38 ± 0.03 versus 7.40 ± 0.04, p = 0.007), higher pressure support (12.6 ± 2.6 versus 11.5 ± 2.4 cmH2O, p = 0.04) and lower EPAP (8.2 ± 1.9 versus 9 ± 2.0 cmH2O, p = 0.06). There was no difference in non-intentional leaks and daily use between patients between both groups. By multivariable analysis, sex, BMI, pCO2 at diagnosis, and TLC were independent risk factors for persistent hypercapnia on home NIV. In individuals with OHS, persistent hypercapnia on home NIV therapy is frequent. Sex, BMI, pCO2 at diagnosis, and TLC were all associated with an increased risk of persistent hypercapnia in persons treated with home NIV.

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Resumen ANTECEDENTES: El cáncer de mama es la segunda neoplasia maligna más común asociada con el embarazo. Su tratamiento es complejo debido a los riesgos en el feto en el contexto del tratamiento de la madre. CASO CLÍNICO: Paciente de 28 años, enviada del Hospital Naval de Chetumal, Quintana Roo, con 13.1 semanas de embarazo por fecha de la última menstruación. En la tomografía computada se advirtió la existencia de un derrame pleural del 70%, otro pericárdico y sospecha de metástasis osteoblástica a la columna torácica. En la exploración física se encontró con dinámica ventilatoria, amplexión y amplexación disminuida derecha, hipoventilación interescapular y basal derecha, con disminución a la trasmisión de voz, submatidez basal derecha y, hacia el lado izquierdo, un murmullo vesicular. Los estudios citoquímico y citológico de líquido pericárdico y pleural se reportaron positivos para malignidad. En la resonancia magnética de la columna se encontraron lesiones sugerentes de actividad tumoral en los cuerpos vertebrales T12 a L5. Debido al avanzado estado metastásico del cáncer se propuso la interrupción del embarazo con el propósito de no retrasar el tratamiento. El perfil biológico reportó: inmunofenotipo triple negativo (receptores de estrógeno y progesterona: negativo, HER2: negativo en células neoplásicas). Se le indicó tratamiento con quimioterapia sistémica (carboplatino-paclitaxel). CONCLUSIÓN: El diagnóstico de cáncer de mama durante el embarazo dificulta la detección e interpretación de las anormalidades mamarias, retrasa el diagnóstico, permite el crecimiento del tumor y se incrementa el riesgo metastásico de la enfermedad. El tratamiento oncológico adecuado y su valoración multidisciplinaria son decisivos para favorecer la supervivencia.

Abstract BACKGROUND: Breast cancer is the second most common malignancy associated with pregnancy. Its treatment is complex due to fetal risks in the context of treatment of the mother. CLINICAL CASE: 28-year-old patient, referred from the Naval Hospital of Chetumal, Quintana Roo, with 13.1 weeks of pregnancy by date of last menstrual period. The CT scan showed a 70% pleural effusion, another pericardial effusion and suspicion of osteoblastic metastasis to the thoracic spine. Physical examination showed ventilatory dynamics, decreased right amplexion and amplexation, interscapular and right basal hypoventilation, with decreased voice transmission, right basal submatitis and, to the left side, a vesicular murmur. Cytochemical and cytological studies of pericardial and pleural fluid were positive for malignancy. MRI of the spine showed lesions suggestive of tumor activity in the vertebral bodies T12 to L5. Due to the advanced metastatic stage of the cancer, termination of pregnancy was proposed in order not to delay treatment. The biological profile reported: triple negative immunophenotype (estrogen and progesterone receptors: negative, HER2: negative in neoplastic cells). Treatment with systemic chemotherapy (carboplatin-paclitaxel) was indicated. CONCLUSION: The diagnosis of breast cancer during pregnancy hinders the detection and interpretation of breast abnormalities, delays diagnosis, allows tumor growth and increases the metastatic risk of the disease. Adequate oncologic treatment and its multidisciplinary assessment are decisive in favoring survival.

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Las enfermedades obstructivas de la vía aérea pediátrica son muy frecuentes debido a los fenómenos mecánicos que están involucrados. En los niños más pequeños, la marcada resistencia de las vías aéreas pequeñas, determinada por la falta de tejido elástico y una caja torácica aún no bien desarrollada; tanto su estructura como la musculatura, facilitarán que cuadros infecciosos, mecánicos (cuerpo extraño) y compresivos, determinen que los flujos de aire se vean limitados y con ello la ventilación alveolar. La respuesta fisiológica con aumento del trabajo respiratorio es limitada y por lo tanto la fatiga muscular determinará hipoventilación con las consecuencias de hipoxemia e hipercapnia.

Obstructive diseases of the pediatric airway are very frequent due to the mechanical phenomena that are involved. The marked resistance of the small airways, such as the lack of elastic tissue and a thoracic cage that is not yet well developed, both in its structure and in the musculature, will make it easier for infectious, mechanical (foreign body), compressive and other conditions to determine that the flows of air are limited and with it the alveolar ventilation. The physiological response with increased work of breathing is limited and therefore muscle fatigue will determine hypoventilation, with the consequences of hypoxemia and hypercapnia.

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Detailed accounts of long-term respiratory complications among children with acute flaccid myelitis have not been reported systematically. We describe respiratory complications and outcomes in a single-center cohort of 19 children with acute flaccid myelitis. Significantly, 3 of the 19 children had a prolonged course of nocturnal hypoventilation that required intervention.

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ABSTRACT Sleep is essential for the proper functioning of all individuals. Sleep-disordered breathing can occur at any age and is a common reason for medical visits. The objective of this consensus is to update knowledge about the main causes of sleep-disordered breathing in adult and pediatric populations, with an emphasis on obstructive sleep apnea. Obstructive sleep apnea is an extremely prevalent but often underdiagnosed disease. It is often accompanied by comorbidities, notably cardiovascular, metabolic, and neurocognitive disorders, which have a significant impact on quality of life and mortality rates. Therefore, to create this consensus, the Sleep-Disordered Breathing Department of the Brazilian Thoracic Association brought together 14 experts with recognized, proven experience in sleep-disordered breathing.

RESUMO O sono é essencial para o adequado funcionamento de todos os indivíduos. Os distúrbios respiratórios do sono ocorrem em todas as faixas etárias, constituindo motivo frequente de consulta médica. O objetivo deste consenso foi atualizar os conhecimentos sobre os principais distúrbios respiratórios do sono tanto na população adulta quanto na pediátrica, com ênfase na apneia obstrutiva do sono. A apneia obstrutiva do sono é uma doença extremamente prevalente, porém frequentemente subdiagnosticada. Associa-se frequentemente a uma série de comorbidades, notadamente cardiovasculares, metabólicas e neurocognitivas, que impactam significativamente na qualidade de vida e na mortalidade. Por conta disso, o Departamento de Distúrbios Respiratórios do Sono da Sociedade Brasileira de Pneumologia e Tisiologia reuniu 14 especialistas com reconhecida e comprovada experiência em distúrbios respiratórios do sono para a elaboração deste documento.

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La hipoxemia ocurre producto de una inadecuada captación de oxígeno a nivel pulmonar y se manifiesta como presión arterial de oxígeno menor a 60 mmHg o saturación arterial de oxígeno menor de 90%. Los mecanismos fisiopatológicos por los cuales se puede producir hipoxemia son hipoventilación, alteración del equilibrio ventilación perfusión, shunt cardiaco, alteración de la difusión y disminución de la presión inspirada de oxígeno. La comprensión de estos mecanismos es fundamental para entender su presentación clínica en distintas enfermedades.

Hypoxemia is the name given to inadequate uptake in the lung and is defined as an arterial oxygen pressure less than 60 mmHg or arterial oxygen saturation less than 90%. The pathophysiological mechanisms that can produce hypoxemia are: hypoventilation, ventilation perfusion mismatch, cardiac shunt, diffusion impairment and decreased inspired oxygen pressure. Full comprehension of these mechanism facilitates the understanding of hypoxemia among different diseases.

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BACKGROUND: Home mechanical ventilation (HMV) is a viable and effective strategy for patients with chronic respiratory failure (CRF). The Chilean Ministry of Health started a program for adults in 2008. METHODS: This study examined the following data from a prospective cohort of patients with CRF admitted to the national HMV program: characteristics, mode of admission, quality of life, time in the program and survival. RESULTS: A total of 1105 patients were included. The median age was 59 years (44-58). Women accounted for 58.1% of the sample. The average body mass index (BMI) was 34.9 (26-46) kg/m2. A total of 76.2% of patients started HMV in the stable chronic mode, while 23.8% initiated HMV in the acute mode. A total of 99 patients were transferred from the children's program. There were 1047 patients on non-invasive ventilation and 58 patients on invasive ventilation. The median baseline PaCO2 level was 58.2 (52-65) mmHg. The device usage time was 7.3 h/d (5.8-8.8), and the time in HMV was 21.6 (12.2-49.5) months. The diagnoses were COPD (35%), obesity hypoventilation syndrome (OHS; 23.9%), neuromuscular disease (NMD; 16.3%), non-cystic fibrosis bronchiectasis or tuberculosis (non-CF BC or TBC; 8.3%), scoliosis (5.9%) and amyotrophic lateral sclerosis (ALS; 5.24%). The baseline score on the Severe Respiratory Insufficiency questionnaire (SRI) was 47 (± 17.9) points and significantly improved over time. The lowest 1- and 3-year survival rates were observed in the ALS group, and the lowest 9-year survival rate was observed in the non-CF BC or TB and COPD groups. The best survival rates at 9 years were OHS, scoliosis and NMD. In 2017, there were 701 patients in the children's program and 722 in the adult´s program, with a prevalence of 10.4 per 100,000 inhabitants. CONCLUSION: The most common diagnoses were COPD and OHS. The best survival was observed in patients with OHS, scoliosis and NMD. The SRI score improved significantly in the follow-up of patients with HMV. The prevalence of HMV was 10.4 per 100,000 inhabitants. Trial registration This study was approved by and registered at the ethics committee of North Metropolitan Health Service of Santiago, Chile (N° 018/2021).

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Las enfermedades neuromusculares (ENM) afectan los distintos componentes de la unidad motora. Desde el diagnóstico deben ser seguidos por un equipo interdisciplinario, donde el neumólogo pediátrico desempeña un papel importante en la valoración de la pérdida de fuerza muscular cuando afecta a la musculatura respiratoria o de la vía aérea superior. Objetivos: conocer las diferentes enfermedades neuromusculares atendidas en el Centro Hospitalario Pereira Rossell, analizar las características de la población y describir los resultados de los principales estudios solicitados por la policlínica de neumológica pediátrica. Metodología: estudio descriptivo, analítico y retrospectivo de los pacientes con enfermedad neuromuscular atendidos en el Centro Hospitalario Pereira Rossell entre el 1/6/2006 y el 31/12/2019. Resultados: las patologías neuromusculares más frecuentemente encontradas fueron distrofias musculares, miopatías, distrofia miotónica de Steinert y atrofia muscular espinal. No tienen diagnóstico definitivo 21/73 pacientes. La espirometría mostró una alteración restrictiva en la mayoría de los pacientes. Para descartar trastornos respiratorios del sueño se realizó oximetría nocturna con gasometría al despertar. La hipoventilación nocturna y las apneas obstructivas fueron las alteraciones encontradas. En 12/73 se inició ventilación no invasiva. Conclusiones: los pacientes con ENM experimentan un deterioro progresivo de la función respiratoria que contribuye a una elevada tasa de morbimortalidad. La evaluación y seguimiento regular de la función respiratoria junto con estudios de sueño, son fundamentales para el inicio oportuno de ventilación no invasiva.

Neuromuscular diseases (NMD) affect the different components of the motor system. As of diagnosis, they should be followed by an interdisciplinary team, in which pediatric pulmonologists play an important role in assessing the loss of muscle strength when NMD affects the respiratory or upper airway muscles. Objectives: to learn about the different neuromuscular diseases treated at the Pereira Rossell Hospital Center, to analyze the characteristics of this population and to describe the results of the main studies requested by the pediatric pulmonology clinic. Methodology: descriptive, analytical and retrospective study of patients with neuromuscular disease treated at the Pereira Rossell Hospital Center between 6/1/2006 and 12/31/2019. Results: the most frequent neuromuscular pathologies were muscular dystrophies, myopathies, Steinert's myotonic dystrophy and spinal muscular atrophy. 21/73 patients did not have a definitive diagnosis. Spirometry showed a restrictive alteration in most of the patients. To rule out respiratory sleep disorders, nocturnal oximetry with blood gas was performed upon awakening, with nocturnal hypoventilation and obstructive apneas being the alterations found. In 12/73 non-invasive ventilation was applied. Conclusions: patients with NMD experience a progressive deterioration of respiratory function that contributes to a high rate of morbidity and mortality. Regular evaluation and monitoring of respiratory function, along with sleep studies, are essential for the timely initiation of non-invasive ventilation.

As doenças neuromusculares (DNM) afetam os diferentes componentes da unidade motora. Desde o diagnóstico, os pacientes devem ser acompanhados por uma equipe interdisciplinar, onde o pneumologista pediátrico desempenha um papel importante na avaliação da perda de força muscular quando atinge a musculatura respiratória ou das vias aéreas superiores. Objetivos: conhecer as diferentes doenças neuromusculares tratadas no Centro Hospitalar Pereira Rossell, analisar as características desta população e descrever os resultados dos principais estudos solicitados à policlínica de pneumologia pediátrica. Metodologia: estudo descritivo, analítico e retrospectivo de pacientes com doenças neuromusculares atendidos no Centro Hospitalar Pereira Rossell entre 01/06/2006 e 31/12/2019. Resultados: as patologias neuromusculares mais encontradas foram distrofias musculares, miopatias, distrofia miotônica de Steinert e atrofia muscular espinhal. 21/73 pacientes não tiveram um diagnóstico definitivo. A espirometria mostrou alteração restritiva na maioria dos pacientes. Para afastar distúrbios respiratórios do sono, foi realizada oximetria noturna com gasometria ao despertar, sendo a hipoventilação noturna e as apneias obstrutivas as alterações encontradas. Em 12/73 foi iniciada ventilação não invasiva. Conclusões: os pacientes com DNM experimentam uma deterioração progressiva da função respiratória que contribui para uma alta taxa de morbidade e mortalidade. A avaliação regular e o monitoramento da função respiratória, juntamente com os estudos do sono, são essenciais para o início oportuno da ventilação não invasiva.

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La apnea obstructiva del sueño (AOS) y el síndrome hipoventilación-obesidad (SHO) son patologías que se encuentran estrechamente asociadas a la obesidad como principal factor de riesgo, hasta un 70% de los pacientes con AOS son obesos. Ambas patologías comparten procesos fisiopatológicos comunes, donde destaca la inflamación sistémica, lo que, sumado a la hipoxia crónica intermitente y la fragmentación del sueño característicos de la AOS, aumenta considerablemente el riesgo de presentar comorbilidades metabólicas como síndrome metabólico, alteraciones en el metabolismo de la glucosa (resistencia a la insulina y diabetes mellitus tipo 2), y hígado graso metabólico. En esta revisión narrativa, se describirán los mecanismos identificados en estas asociaciones, así como la prevalencia y la evidencia sobre el tratamiento de la AOS y del SHO

Obstructive sleep apnea (OSA) and obesity-hypoventilation syndrome (OHS) are pathologies that are closely associated with obesity as the main risk factor, up to 70% of patients with OSA are obese. Both pathologies share common pathophysiological processes, where systemic inflammation stands out, which, added to the intermittent chronic hypoxia and sleep fragmentation characteristic of OSA, considerably increases the risk of presenting metabolic comorbidities such as metabolic syndrome, alterations in the metabolism of the glucose (insulin resistance and type 2 diabetes mellitus), and metabolic fatty liver. In this narrative review, the mechanisms identified in these associations will be described, as well as the prevalence and evidence on the treatment of OSA and OHS

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RESUMO: A hipoventilação relacionada ao sono de origem central resulta em hipercapnia relacionada ao sono na vigência de condições normais do sistema respiratório e excluindo-se outros fatores. Os pacientes portadores dessa patologia podem se apresentar assintomáticos ou com queixas de cefaleia matinal, déficit cognitivo e fadiga, além de eventos como a observação de respiração superficial. No presente relato, descreve-se o caso de uma paciente de três anos, com exame físico geral e neurológico normais, desenvolvimento neuropsicomotor adequado, apresentando irregu-laridades respiratórias e bradicardia durante o sono. Encaminhada para investigação de distúrbios respiratórios do sono, sendo diagnosticada com hipoventilação relacionada ao sono. Através do estudo genético, evidenciou-se a deficiência de biotinidase como a possível causa da sintomatologia, comprovada por dosagens enzimáticas e teste genético molecular. O tratamento medicamentoso foi iniciado precocemente, determinando resolução dos sintomas descritos. A importância do presente relato se encontra na apresentação da deficiência da biotinidase com quadro cardiorrespiratório isolado em criança neurologicamente normal, ademais trata-se de um caso em que a etiologia de Breath-Holding Spells foi a deficiência dessa enzima. Correspondência sugerida pela resolução da hipoventila-ção central após a introdução da biotina. Além disso, nesse caso, os sintomas Apparent Life-Threatening Events, que aterrorizam o observador e até o profissional, foram solucionados com tratamento simples, a ingesta oral de biotina. Esse relato de caso corrobora com a expansão das possibilidades de manifestações fenotípicas das formas tardias de deficiência de biotinidase, como o fenótipo da Síndrome da Hipoventilação Central. (AU)

ABSTRACT: Idiopathic sleep-related hypoventilation occurs in individuals with hypercapnia during sleep in normal conditions of the respiratory system in the absence of other disorders. Patients with this condition may be asymptomatic or have complaints of morning headache, cognitive deficit and fatigue, and observation of shallow breathing. This report describes the case of a 3-year-old patient with normal physical and neurological exam, appropriate neuropsychomotor development, presenting breathing irregularities, and bradycardia during sleep. The patient was referred to an investigation for sleep respiratory disturbs and was diagnosed with hypoventilation related to sleep. The genetic study, done by enzymatic dosages and molecular genetic tests, showed the deficiency of biotinidase as a possible cause of symptomatology. The drug treatment was initiated early with the resolution of the symptoms. The present clinical report highlights the biotinidase deficiency with an isolated cardiorespiratory condition in a neurologically normal child, which also led to Breath-Holding Spells. This relation was suggested after central hypoventilation resolution following biotin introduction. Besides, Apparent Life-Threatening Events symptoms, which terrify the observer and even professionals, disappeared after the oral intake of biotin. Finally, this case report corroborates the expansion of possibilities for the phenotypic manifestations of late cases from biotinidase deficiency, as the SHC phenotyp. ((AU)

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Introducción: Las alteraciones del intercambio gaseoso se han reconocido en la obesidad mórbida; sin embargo, no se conoce su comportamiento conforme se incrementa el índice de masa corporal. Objetivo: Conocer el comportamiento del intercambio gaseoso a la altura de la Ciudad de México en el desarrollo de obesidad mórbida. Métodos: Mediante un diseño transversal analítico se estudió a sujetos pareados por género y edad de cuatro grupos diferentes de índice de masa corporal (kg/m2): normal (18.5-24.9), sobrepeso (25-29.9), obesidad (30-39.9) y obesidad mórbida (≥ 40). Se obtuvieron sus antecedentes patológicos y demográficos, variables de gasometría arterial y espirometría simple. Las variables se determinaron de acuerdo con las características de la muestra; las diferencias entre grupos se realizaron mediante Anova de una vía con ajuste de Bonferroni, así como la correlación de Pearson para las variables relacionadas. Una p < 0.05 se consideró con significación estadística. Resultados: Se estudió a 560 pacientes en cuatro grupos. La edad promedio fue de 49 ± 11 años. La mayor frecuencia de diabetes mellitus (34.29%), hipertensión arterial (50%) e hiperlipidemia (36.43%) se registró en el grupo de obesidad, y la de roncador (73.57%) en la obesidad mórbida. Se identificaron diferencias desde el grupo normal respecto de la obesidad mórbida: PaCO2 31.37 ± 2.08 vs. 38.14 ± 5.10 mmHg; PaO2 68.28 ± 6.06 vs. 59.86 ± 9.28 mmHg y SaO2 93.51 ± 1.93 vs. 89.71 ± 5.37%, todas con p = 0.0001. Correlación IMC-PaCO2: 0.497, e IMC-PaO2: -0.365, p = 0.0001, respectivamente. Conclusiones: A la altitud de la Ciudad de México y con índice de masa corporal > 30 kg/m2, las variables relacionadas con el intercambio gaseoso y espirometría simple comienzan a deteriorarse; son evidentes con IMC > 40 kg/m2. Introduction: Alterations of gas exchange have been recognized in morbid obesity, however, it is not known how their behavior would be as the body mass index increases. Objective: To know the behavior of gas exchange at the level of Mexico City in the development of morbid obesity. Methods: Through analytical design, subjects matched by gender and age were studied from four different groups of body mass index (kg/m2), normal (18.5-24.9), overweight (25-29.9), obesity (30-39.9) and morbid obesity (≥ 40). Their pathological and demographic antecedents, arterial blood gas and simple spirometry variables were obtained. The variables were shown according to their sample characteristic. The differences between groups were made using one way Anova with Bonferroni adjustment, as well as Pearson's correlation for the related variables. Statistical significance was considered with p < 0.05. Results: 560 subjects were studied in 4 groups. The average age 49 ± 11 years old. The highest frequency of diabetes mellitus (34.29%), arterial hypertension (50%) and hiperlipidemia (36.43%) was in the obesity group, and being snoring (73.57%) in morbid obesity. There were differences from the normal group versus. morbid obesity: PaCO2 31.37 ± 2.08 versus. 38.14 ± 5.10 mmHg; PaO2 68.28 ± 6.06 versus. 59.86 ± 9.28 mmHg and SaO2 93.51 ± 1.93 versus. 89.71 ± 5.37%, all with p = 0.0001. The IMC-PaCO2 correlation: 0.497, and IMC-PaO2: −0.365, p = 0.0001 respectively. Conclusions: At the altitude of Mexico City and body mass index > 30 kg/m2 the variables related to gas exchange and simple spirometry begin to deteriorate; are evident with BMI > 40 kg/m2.

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Resumen Introducción: Las alteraciones del intercambio gaseoso se han reconocido en la obesidad mórbida; sin embargo, no se conoce su comportamiento conforme se incrementa el índice de masa corporal. Objetivo: Conocer el comportamiento del intercambio gaseoso a la altura de la Ciudad de México en el desarrollo de obesidad mórbida. Métodos: Mediante un diseño transversal analítico se estudió a sujetos pareados por género y edad de cuatro grupos diferentes de índice de masa corporal (kg/m2): normal (18.5-24.9), sobrepeso (25-29.9), obesidad (30-39.9) y obesidad mórbida (≥ 40). Se obtuvieron sus antecedentes patológicos y demográficos, variables de gasometría arterial y espirometría simple. Las variables se determinaron de acuerdo con las características de la muestra; las diferencias entre grupos se realizaron mediante Anova de una vía con ajuste de Bonferroni, así como la correlación de Pearson para las variables relacionadas. Una p < 0.05 se consideró con significación estadística. Resultados: Se estudió a 560 pacientes en cuatro grupos. La edad promedio fue de 49 ± 11 años. La mayor frecuencia de diabetes mellitus (34.29%), hipertensión arterial (50%) e hiperlipidemia (36.43%) se registró en el grupo de obesidad, y la de roncador (73.57%) en la obesidad mórbida. Se identificaron diferencias desde el grupo normal respecto de la obesidad mórbida: PaCO2 31.37 ± 2.08 vs. 38.14 ± 5.10 mmHg; PaO2 68.28 ± 6.06 vs. 59.86 ± 9.28 mmHg y SaO2 93.51 ± 1.93 vs. 89.71 ± 5.37%, todas con p = 0.0001. Correlación IMC-PaCO2: 0.497, e IMC-PaO2: -0.365, p = 0.0001, respectivamente. Conclusiones: A la altitud de la Ciudad de México y con índice de masa corporal > 30 kg/m2, las variables relacionadas con el intercambio gaseoso y espirometría simple comienzan a deteriorarse; son evidentes con IMC > 40 kg/m2.

Abstract Introduction: Alterations of gas exchange have been recognized in morbid obesity, however, it is not known how their behavior would be as the body mass index increases. Objective: To know the behavior of gas exchange at the level of Mexico City in the development of morbid obesity. Methods: Through analytical design, subjects matched by gender and age were studied from four different groups of body mass index (kg/m2), normal (18.5-24.9), overweight (25-29.9), obesity (30-39.9) and morbid obesity (≥ 40). Their pathological and demographic antecedents, arterial blood gas and simple spirometry variables were obtained. The variables were shown according to their sample characteristic. The differences between groups were made using one way Anova with Bonferroni adjustment, as well as Pearson’s correlation for the related variables. Statistical significance was considered with p < 0.05. Results: 560 subjects were studied in 4 groups. The average age 49 ± 11 years old. The highest frequency of diabetes mellitus (34.29%), arterial hypertension (50%) and hiperlipidemia (36.43%) was in the obesity group, and being snoring (73.57%) in morbid obesity. There were differences from the normal group versus. morbid obesity: PaCO2 31.37 ± 2.08 versus. 38.14 ± 5.10 mmHg; PaO2 68.28 ± 6.06 versus. 59.86 ± 9.28 mmHg and SaO2 93.51 ± 1.93 versus. 89.71 ± 5.37%, all with p = 0.0001. The IMC-PaCO2 correlation: 0.497, and IMC-PaO2: −0.365, p = 0.0001 respectively. Conclusions: At the altitude of Mexico City and body mass index > 30 kg/m2 the variables related to gas exchange and simple spirometry begin to deteriorate; are evident with BMI > 40 kg/m2.

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Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity syndrome with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) are rare causes of hypoventilation during sleep in the pediatric population. This group of disorders are characterized by the absence or decrease in the automatic control of ventilation, decreased sensitivity of chemoreceptors to CO2, causing hypoventilation during sleep and even in wakefulness, in the most severe cases. For these reasons it is important to diagnose and treat them promptly. The objective of this review is to provide current and complete literature, to be able to identify, treat and refer this group of children early, and thus reduce the complications and/or associated comorbidities in the short and long term, improving their quality of life.

El síndrome de hipoventilación central congénita (CCHS) y síndrome de obesidad de inicio rápido con disfunción hipotalámica, hipoventilación y desregulación autonómica (ROHHAD), son causas poco comunes de hipoventilación durante el sueño en la población pediátrica. Este grupo de trastornos se caracterizan por ausencia o disminución en el control automático de la ventilación, sensibilidad disminuida de los quimioreceptores al CO2, provocando hipoventilación durante el sueño e incluso en vigilia, en los casos más severos. Por estas razones es importante diagnosticarlos y tratarlos oportunamente. El objetivo de esta revisión es proporcionar literatura actual y completa, para poder identificar, tratar y referir a éste grupo de niños tempranamente, y así disminuir las complicaciones y/o comorbilidades asociadas a corto y largo plazo, mejorando su calidad de vida.

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