Fisiología respiratoria: fisiopatología de las enfermedades obstructivas / Pathophysiology of obstructive diseases

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.

Cáncer de mama metastásico y embarazo: reporte de caso / Metastatic breast cancer and pregnancy: a case report

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.

Correlation between exhaled nitric oxide and obstructive sleep apnea-hypopnea syndrome / 中国基层医药

Objective:To investigate the correlation between exhaled nitric oxide and obstructive sleep apnea-hypopnea syndrome (OSAHS).Methods:Eighty patients with OSAHS (OSAHS group) who received treatment in Pingxiang People's Hospital from September 2019 to September 2021 were included in this study. An additional 60 patients with snoring (snoring group) who concurrently received treatment in the same hospital were included in the control group. The value of exhaled nitric oxide was measured using an exhaled nitric oxide detector. The relationship between exhaled nitric oxide and apnea-hypopnea index, and the lowest oxygen saturation level during sleep (LSaO 2) was analyzed using Pearson correlation analysis. The optimal cut-off value of exhaled nitric oxide for predicting OSAHS was analyzed using the receiver operating characteristic curve. Results:Exhaled nitric oxide and apnea-hypopnea index in the OSAHS group were (18.61 ± 6.23) μg/L and (44.50 ± 16.15) times/hour, respectively, which were significantly greater than (11.17 ± 4.31) μg/L and (2.91 ± 0.79) times/hour in the snoring group ( t = 7.94, 14.08, both P < 0.05). LSaO 2 in the OSAHS group was significantly lower than that in the snoring group [(66.53 ± 10.17)% vs. (92.15 ± 1.62)%, t = -13.61, P < 0.05]. Correlation analysis showed that exhaled nitric oxide levels in patients with OSAHS were positively correlated with apnea-hyponea index ( r = 0.56, P = 0.001), and negatively correlated with the lowest oxygen saturation level ( r = -0.54, P = 0.002). The receiver operating characteristic curve analysis revealed that when the optimal cut-off value of exhaled nitric oxide was 11.5 μg/L, the area under the curve was 0.846, with sensitivity of 91.3%, and specificity of 63.3%. Conclusion:Patients with OSAHS have airway inflammatory reactions. The level of nitric oxide in exhaled air is positively correlated with the severity of OSAHS, which has a certain clinical value.

Effects of chronic obstructive pulmonary disease patients complicated with OSAHS on hypercapnia and related factors / 中华健康管理学杂志

Objective:To analyze the effects of chronic obstructive pulmonary disease (COPD) combined with obstructive sleep apnea hypopnea syndrome (OSAHS) on hypercapnia and its related factors.Methods:In this cross-sectional study, patients with stable COPD were continuously recruited from July 2016 to December 2018 in the Respiratory Department of Peking University Third Hospital. General clinical data of patients were collected, and lung function test, arterial blood gas analysis and portable sleep monitoring were also conducted. Patients with COPD complicated with apnea hypopnea index (AHI)≥10 times/h and apnea events being mainly blockage-type events, accompanied by snoring, sleep apnea, daytime sleepiness and other symptoms were defined as overlapping group, patients with COPD complicated with AHI<10 times/h were defined as simple COPD group. Correlation analysis and logistic regression model were used to explore the determinants of daytime hypercapnia in patients with COPD.Results:Compared with simple COPD group, the median arterial partial pressure of carbon dioxide (PaCO 2) was significantly higher in the overlapping group (42.00 vs 38.95 mmHg (1 mmHg=0.133 kPa), P<0.001), and the rate of daytime hypercapnia was significantly higher (23.3% vs 3.3%, P=0.002). PaCO 2 was correlated with forced vital capacity (FVC), percent predicted forced expiratory volume in one second (FEV 1%pred), the ratio of residual volume (RV) to total lung capacity (TLC), AHI, nocturnal average transcutaneous oxygen saturation (SpO 2), nocturnal minimum SpO 2 and the total sleep time spent with SpO 2≤90% (T90) (all P<0.05). In logistic regression analysis, after adjusting for age, sex, and body mass index (BMI), only severe OSAHS, GOLD Ⅲ-Ⅳ grade (FEV 1%pred<50%), and T90>1% were independent risk factors for hypercapnia. Conclusions:OSAHS can increase the risk of hypercapnia in patients with COPD. AHI, lung function injury and T90 are closely related to hypercapnia.

Fisiología respiratoria hipoxemia / Hypoxemia

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.

Brazilian Thoracic Association Consensus on Sleep-disordered Breathing / Consenso em Distúrbios Respiratórios do Sono da Sociedade Brasileira de Pneumologia e Tisiologia

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.

Enfermedad neuromuscular en pediatría: estudio descriptivo de los pacientes asistidos en la policlínica de Neumología Pediátrica del Centro Hospitalario Pereira Rossell en el período 1/6/2006-31/12/2019 / Pediatric neuromuscular disease: study of patients assisted at the Pediatric Pneumology department of the Pereira Rossell Pediatric Hospital during 1/6/2006-31/12/2019 / Doença neuromuscular em pediatria: estudo descritivo de pacientes atendidos no policlínio de Pneumologia Pediátrica do Hospital Pereira Rossell no período 1/6/2006-31/12/2019

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.

Asociación e interacciones de la apnea obstructiva del sueño (AOS) y del síndrome de hipoventilación obesidad (SHO) / Metabolic associations of the obstructive sleep apnea (AOS) and hypoventilation obesity syndrome

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

Hipoventilação relacionada ao sono de origem central secundária à deficiência de biotinidase: relato de caso / Sleep-related hypoventilation due to partial biotinidase deficiency: a case repor

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)

Deterioro del intercambio gaseoso en sujetos con incremento del índice de masa corporal a una altitud de 2, 240 metros sobre el nivel del mar / Deterioration of gas exchange in subjects with an increase in body mass index at an altitude of 2, 240 meters above sea level

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.

Trastorno de hipoventilación central del sueño en pediatría: causas poco frecuentes / Central hypoventilation disorders sleep-related in pediatrics: unusual causes

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.

Marcapasos diafragmático en paciente pediátrico con síndrome de Hipoventilación Central Adquirido / Diaphragm pacing in a pediatric patient with Acquired Central Hypoventilation syndrome

Resumen: Introducción: El marcapasos diafragmático permite reducir o eliminar la necesidad de ventilación mecánica en pacientes con insuficiencia respiratoria crónica que conservan el eje nervio frénico-diafragma in tacto, siempre que no presenten enfermedad pulmonar intrínseca. Aunque su implantación ha sido practicada por décadas, su uso no está ampliamente difundido, y existe poca literatura pu blicada al respecto, la mayoría relacionada con lesión medular alta y síndrome de hipoventilación central congénito. Objetivo: Describir una experiencia de implantación de marcapasos diafragmático en paciente pediátrico con síndrome de hipoventilación central adquirido. Caso Clínico: Pa ciente femenino con síndrome de hipoventilación central secundario a lesión isquémica de tronco cerebral como resultado de disfunción de válvula de derivación ventrículo peritoneal, motivo por el cual durante 5 años se mantuvo con asistencia de ventilación mecánica intrahospitalaria. A los 7 años de edad se implantó marcapasos diafragmático mediante cirugía toracoscópica, lo que per mitió posterior a un periodo de rehabilitación y acondicionamiento respiratorio el destete de la ventilación mecánica y el egreso hospitalario. Conclusiones: El marcapasos diafragmático es una opción factible, potencialmente segura y costo efectiva para disminuir o eliminar la dependencia de ventilación mecánica y mejorar la calidad de vida en pacientes con síndrome de hipoventilación central adquirido.

Abstract: Introduction: Diaphragmatic pacemaker is a device that reduces or eliminates the need of mechanical ventilation in patients with chronic respiratory failure who keep the phrenic nerve-diaphragm axis intact, as long as they do not present intrinsic lung disease. Although its implantation has been practiced for deca des, its use is not widespread and to date, there is little published literature about it, mostly related to high spinal cord injury and congenital central hypoventilation syndrome. Objective: To describe an experience of diaphragmatic pacemaker implantation in a pediatric patient with acquired cen tral hypoventilation syndrome. Clinical Case: Female patient with central hypoventilation syndrome secondary to ischemic brainstem lesion as a result of ventriculoperitoneal shunt malfunction. For this reason, for 5 years she was supported by inpatient mechanical ventilation. At 7 years of age, a diaphragmatic pacemaker was implanted by thoracoscopic surgery, which allowed, after a period of rehabilitation and respiratory conditioning, mechanical ventilation withdrawal, and hospital dischar ge. Conclusions: Diaphragmatic pacemaker is a feasible, potentially safe, and cost-effective option for decreasing or eliminating mechanical ventilation dependence and improve life quality in patients with acquired central hypoventilation syndrome.

Analysis of C-reactive protein, fibrinogen and erythrocyte sedimentation rate in patients with obstructive sleep apnea hypopnea syndrome / 中国基层医药

Objective@#To investigate the changes of C-reactive protein(CRP), fibrinogen(FIB) and erythrocyte sedimentation rate(ESR) in patients with obstructive sleep apnea-hypopnea syndrome(OSAHS), and their relationship with sleep respiratory parameters.@*Methods@#From June 2015 to August 2018, 70 OSAHS patients[observation group, apnea hypopnea index(AHI)≥5/h]and 20 persons in the snoring control group(control group, AHI<5/h) who received the monitor of polysomnography in the Pingxiang People′s Hospital were enrolled.The levels of CRP, FIB and ESR were measured and compared between the two groups.The correlations were analyzed between the levels of inflammatory markers and sleep breathing parameters.@*Results@#The two groups had no statistically significant differences in age, gender and BMI(all P>0.05). The CRP, FIB and ESR of the observation group were (4.5±3.0)mg/L, (3.3±0.9)g/L, (11.4±5.4)mm/h, respectively, which were significantly higher than those of the control group[(2.0±1.5)mg/L, (2.9±0.5)g/L, (7.6±2.6)mm/h](t=5.12, 2.68, 4.36, all P<0.05). The level of CRP was positively correlated with AHI, oxygen desaturation index(ODI)(r=0.285, P<0.05 and r=0.282, P<0.05), and negatively correlated with the lowest SaO2 and the average SaO2(r=-0.257, P<0.05 and r=-0.259, P<0.05). The level of FIB was positively correlated with AHI, ODI(r=0.430, P<0.01 and r=0.311, P<0.01), and negatively correlated with the lowest SaO2(r=-0.287, P<0.01). There were no correlations between ESR and sleep breathing parameters.@*Conclusion@#The levels of CRP, FIB and ESR are increased in OSAHS patients, and the levels of CRP and FIB are proportional to the severity of OSAHS, suggesting that OSAHS patients has systemic inflammatory response.

Analysis of C-reactive protein, fibrinogen and erythrocyte sedimentation rate in patients with obstructive sleep apnea hypopnea syndrome / 中国基层医药

Objective To investigate the changes of C-reactive protein (CRP),fibrinogen (FIB) and erythrocyte sedimentation rate (ESR) in patients with obstructive sleep apnea-hypopnea syndrome (OSAHS),and their relationship with sleep respiratory parameters.Methods From June 2015 to August 2018,70 OSAHS patients [observation group,apnea hypopnea index (AHI) ≥ 5/h] and 20 persons in the snoring control group (control group,AHI ＜ 5/h) who received the monitor of polysomnography in the Pingxiang People's Hospital were enrolled.The levels of CRP,FIB and ESR were measured and compared between the two groups.The correlations were analyzed between the levels of inflammatory markers and sleep breathing parameters.Results The two groups had no statistically significant differences in age,gender and BMI(all P ＞ 0.05).The CRP,FIB and ESR of the observation group were (4.5 ± 3.0) mg/L,(3.3 ± 0.9) g/L,(11.4 ± 5.4) mm/h,respectively,which were significantly higher than those of the control group [(2.0 ± 1.5) mg/L,(2.9 ± 0.5) g/L,(7.6 ± 2.6) mm/h] (t =5.12,2.68,4.36,all P ＜ 0.05).The level of CRP was positively correlated with AHI,oxygen desaturation index (ODI) (r =0.285,P ＜ 0.05 and r =0.282,P ＜ 0.05),and negatively correlated with the lowest SaO2 and the average SaO2 (r =-0.257,P ＜ 0.05 and r =-0.259,P ＜ 0.05).The level of FIB was positively correlated with AHI,ODI (r =0.430,P ＜ 0.01 and r =0.311,P ＜0.01),and negatively correlated with the lowest SaO2 (r =-0.287,P ＜0.01).There were no correlations between ESR and sleep breathing parameters.Conclusion The levels of CRP,FIB and ESR are increased in OSAHS patients,and the levels of CRP and FIB are proportional to the severity of OSAHS,suggesting that OSAHS patients has systemic inflammatory response.

Effect of Small Doses of Remifentanil on Preventing Cardiovascular Responses during Extubation in Operation of 40 Cases of Obstructive Sleep Apnea Hypoventilation Syndrome / 医药导报

Objective To study the effect of small doses of remifentanil in preventing cardiovascular responses to extubation in the operation of obstructive sleep apnea hypoventilation syndrome (OSAHS) . Methods Eighty patients with snoring under general anesthesia were selected. The patients were randomly divided into treatment group and control group with 40 cases in each group. The two groups used the same induction anaesthetics, and sevoflurane and remifentanil were used in both groups for anesthesia maintainance. The control group discontinued all anesthetics at the end of surgery; The treatment group stopped sevoflurane alone, and decreased and continued the infusion of remifentanil until extubation. The changes of heart rate, systolic blood pressure, diastolic blood pressure and oxygen saturation before anesthesia (t1) , extubation (t2) , 5 min after extubation (t3) , 10 min after extubation (t4) and 15 min after extubation (t5) were recorded. Recovery indexesand adverse reactions of anesthesia were recorded. Results The heart rate, systolic blood pressure, diastolic blood pressure were significantly increased at t2, t3, t4 and t5 in the two groups (P< 0.05) . SpO2 in all time intervals after extubation was slightly decreased, but the difference was not statistically significant (P> 0.05) .No significant differences were found between the two groups in the recovery time of spontaneous respiration, extubation time and the time returning to the ward (P > 0. 05) . The incidence of adverse reactions was significantly lower in the treatment group (7.5％) than in the control group (30.0％) (P< 0.05) . Conclusion Small doses of remifentanil can effectively prevent the cardiovascular responses during extubation in OSAHS operations, reduce the adverse reactions and increase the safety of extubation.

Spinal anesthesia and postoperative epidural analgesia in a patient with congenital central hypoventilation syndrome: a case report / 대한마취과학회지

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation. Patients with CCHS have adequate ventilation while awake but exhibit hypoventilation while asleep. More severely affected patients exhibit hypoventilation both when awake and when asleep. CASE: Here, we report a case of successful spinal anesthesia and postoperative epidural analgesia in a patient with CCHS who underwent orthostatic surgery. CONCLUSIONS: In patients with CCHS, anesthesia is used with the goal of minimizing respiratory depression to avoid prolonged mechanical ventilation. Regional anesthesia should be considered where appropriate. Continuous oxygen saturation and end-tidal carbon dioxide monitoring must be available.

Central Hypoventilation Syndrome in Posterior Circulation Stroke Treated by Respiratory Rehabilitation: a Case Report

Central hypoventilation syndrome is a rare and fatal condition resulting from various central nervous system disorders that is characterized by a failure of automatic breathing. We report a case of central hypoventilation syndrome following posterior circulation stroke whose pulmonary function was improved by respiratory rehabilitation. A 59-year-old woman with a history of hemorrhagic stroke of the bilateral cerebellum was hospitalized due to pneumonia. A portable ventilator was applied via tracheostomy, recurrent episodes of apnea and hypercapnia impeded weaning. A respiratory rehabilitation program including chest wall range of motion exercise, air stacking exercise, neuromuscular electrical stimulation (NMES) on abdominal muscles, upper extremity ergometer, locomotor training, high-frequency chest wall oscillator, mechanical insufflation, and exsufflation was employed, as spirometry showed a severe restrictive pattern. A spontaneous breathing trial was started, and a portable ventilator was applied for 8 hours, only during nighttime, to prevent sudden apneic event. After 4 weeks of treatment, follow-up spirometry showed much improved respiratory parameters. This case suggests that respiratory rehabilitation can improve pulmonary function parameters and quality of life in central hypoventilation syndrome.

Desafío diagnóstico diciembre 2018 / Diagnostic Challenge december 2018

Recién nacido femenino, producto de madre de 36 años, G5P4C0A0, con diagnóstico de embarazo de 30.5 semanas, preeclampsia severa, anhidramnios, y retraso del crecimiento intrauterino. Con cinco controles prenatales, HIV negativo, VDRL no reactor, tipaje, Rh O+, quien nace vía cesárea evidenciándose ausencia de líquido amniótico, apgar 9/9, peso: 1040g, talla: 33 cm, perímetro cefálico: 32 cm, sexo indeterminado, orejas de implantación baja, hipoventilación pulmonar bilateral, genitales no diferenciados, presencia de una sola extremidad inferior fusionada con presencia de 4 dedos. Ingresa a Neonatología con di cultad respiratoria moderada. Ultrasonido cerebral: cerebelo con leve disminución de su volumen, no hidrocefalia, no hemorragia intraventricular. Ultrasonido abdominal no logra de nir páncreas, riñones ni vejiga

Obesity hypoventilation syndrome: a current review / Síndrome de obesidade-hipoventilação: uma revisão atual

ABSTRACT Obesity hypoventilation syndrome (OHS) is defined as the presence of obesity (body mass index ≥ 30 kg/m²) and daytime arterial hypercapnia (PaCO2 ≥ 45 mmHg) in the absence of other causes of hypoventilation. OHS is often overlooked and confused with other conditions associated with hypoventilation, particularly COPD. The recognition of OHS is important because of its high prevalence and the fact that, if left untreated, it is associated with high morbidity and mortality. In the present review, we address recent advances in the pathophysiology and management of OHS, the usefulness of determination of venous bicarbonate in screening for OHS, and diagnostic criteria for OHS that eliminate the need for polysomnography. In addition, we review advances in the treatment of OHS, including behavioral measures, and recent studies comparing the efficacy of continuous positive airway pressure with that of noninvasive ventilation.

RESUMO A síndrome de obesidade-hipoventilação (SOH) é definida pela presença de obesidade (índice de massa corpórea ≥ 30 kg/m2) e hipercapnia arterial diurna (PaCO2 ≥ 45 mmHg), na ausência de outras causas. A SOH é frequentemente negligenciada e confundida com outras patologias associadas à hipoventilação, em particular à DPOC. A importância do reconhecimento da SOH se dá por sua elevada prevalência, assim como alta morbidade e mortalidade se não tratada. Na presente revisão, abordamos os recentes avanços na fisiopatologia e no manejo da SOH. Revisamos a utilidade da medição do bicarbonato venoso como rastreamento e os critérios diagnósticos que descartam a necessidade de polissonografia. Destacamos ainda os avanços no tratamento da SOH, incluindo medidas comportamentais, e estudos recentes que comparam a eficácia do uso de pressão positiva contínua nas vias aéreas e de ventilação não invasiva.

Caracterización socio-demográfica y clínica de pacientes adultos en ventilación mecánica no invasiva domiciliaria. Ministerio de Salud. Chile / Socio-demographic and clinical characterization of adult patients in non-invasive home mechanical ventilation. Ministry of Health. Chile

Resumen Introducción: La ventilación mecánica no invasiva domiciliaria (VMNID) se entrega en Chile desde el año 2008 mediante un programa público. Incluye equipamiento y profesionales. Objetivos: 1) Caracterizar el perfil socio-demográfico y clínico del usuario adulto con VMNID y 2) Proponer mejoras de atención socio-sanitaria. Método. Estudio descriptivo transversal, mediante entrevista presencial domiciliaria y revisión de bases de datos oficiales. Muestra de 267 sujetos, ambos géneros, mayores de 20 años, con Falla Respiratoria Global Crónica (FRGC) en VMNID. En 2016 había 413 pacientes activos. Resultados: Mujeres 144 (53,9%), edad media 58,6 ± 18 años. 25,5% tienen EPOC y 24% síndrome hipoventilación obesidad, la PaCO2 promedio de ingreso al programa fue de 59 ± 11 mmHg. Ventilados desde 3,2 ± 2,4 años, por 7,6 ± 2,4 h/día. Sujetos "sin instrucción" y con "educación básica incompleta" representan el 40,7% de la muestra. 46,4% eran jubilados, 3% vive en mediaguas, 19,8% reside como allegado, 49% no contaba con pareja, el 4,8% vivía solo, 68,6% eran dependientes de oxígeno. Test de Golberg estuvo alterado en un 40%. 17,7% "posee mayor limitación, incapaz de realizar el autocuidado". Conclusiones: Nuestros pacientes tienen un deterioro socio-demográfico y clínico severo, por baja escolaridad, predominio de adultos mayores, mayor incapacidad laboral, son enfermos más graves con niveles basales de PaCO2 más altos, en comparación a estudios europeos. Los programas de VMNID deben adoptar un enfoque socio-sanitario y estar insertos en la red de salud tanto en servicio social, salud cardiovascular y mental.

Introduction: Non-invasive home mechanical ventilation (NIHMV) is delivered in Chile since 2008 throughout a public program, including equipment and professionals. Objectives: 1) Characterize the socio-demographic and clinical profile of the adult patient under NIHMV and 2) Propose improvements in social health care. Methodology: Descriptive cross-sectional study, through face-to-face home interview and review of official databases. Sample of 267 subjects, both gender, over 20 years-old, with Chronic Global Respiratory Failure (CGRF) in NIHMV. In 2016 there were 413 active patients. Results: Women 144 (53.9%), mean age 58.6 ± 18 years-old; 25.5% had COPD and 24% had a hypoventilation obesity syndrome, average PaCO2 at the time of admission to program was 59 ± 11 mmHg, they were ventilated since 3.2 ± 2.4 years, 7.6 ± 2.4 h a day. Subjects "without instruction" and with "incomplete basic education" represents 40.7% of the sample. 46.4% were retired persons; 3% lived in a precarious hut; 19.8% cohabited with relatives or close friends; 49% did not have a partner; 4.8% lived alone; 68.6% was oxygen dependent; 40% had an altered Golberg test; 17.7% "has a major limitation, unable to perform self-care". Conclusions: Our patients have a severe socio-demographic and clinical deterioration, due to low schooling level, predominance of older adults, a major incapacity for working and patients have a more severe disease with higher baseline PaCO2 levels, compared to European studies. NIHMV programs must adopt a social health approach and be inserted into the health network in social service, and cardiovascular and mental health programs.