ABSTRACT
Los avances en medicina del sueño son de gran relevancia para enfrentar adecuadamente los trastornos del sueño en niños y adolescentes, procurando mitigar sus efectos multisistémicos y llevando a la práctica conductas de un mejor estándar. Este artículo de revisión se enfoca en mostrar los principales avances sobre trastornos respiratorios del sueño, refiriéndonos a las experiencias publicadas durante estos años de pandemia sobre avances epidemiológicos, consecuencias cardiovasculares, lectura de estudios de sueño y estudios domiciliarios; finalmente aspectos sobre tratamiento quirúrgico versus conservador, soporte ventilatorio y dispositivos autorregularles ambulatorios para titulación.
Advances in sleep medicine are of great relevance to adequately address sleep disorders in children and adolescents, seeking to reduce their multisystem effects and implementing better standard behaviors. This review article focuses on showing the main advances on sleep-disordered breathing, referring to the experiences published during these pandemic years on epidemiological advances, cardiovascular consequences, reading sleep studies and home studies; finally, aspects of surgical versus conservative treatment, ventilatory support and ambulatory self-regulating devices for titration.
ABSTRACT
INTRODUCTION: Cystic Fibrosis (CF) is the most frequent chronic hereditary disease in the white race. Although the impact on the quality of life of this disease is significant, there are no validated instruments in the Chilean population to measure it. OBJECTIVE: To carry out a cultural and linguistic adaptation and validate the content and reliability of the CFQ-R Cystic Fibrosis Questionnaire, Spanish version 2.0. PATIENTS AND METHOD: The process was carried out in two stages. The first stage consists of an ins trumental design to adapt it culturally and linguistically, evaluate content validity by consulting ex perts, and test the comprehension of the questionnaire in patients and parents through qualitative interviews and a focus group. In the second stage with an observational and cross-sectional design in a sample of 122 people with CF or their caregivers, the behavior of the questionnaire was analyzed using descriptive statistics and Cronbach's alpha for reliability. RESULTS: Stage 1: the instrument in its three versions is considered valid with Lynn's index > 0.8 and Validity Coefficient > 0.7. Stage 2: The adolescent/adult and parent/caregiver versions obtain Cronbach's a > 0.7 and an average > 3 in most dimensions. CONCLUSION: The questionnaire is adapted and validated in the Chilean population and requires minor modifications. This version is reliable, valid, and allows the assessment of the quality of life in people with CF. It is suggested to increase the sample for the analysis of construct validity with a larger number of patients.
Subject(s)
Cystic Fibrosis , Quality of Life , Adolescent , Adult , Child , Chile , Cross-Sectional Studies , Cystic Fibrosis/diagnosis , Humans , Reproducibility of Results , Surveys and QuestionnairesABSTRACT
Resumen El aumento de la expectativa de vida de niños y adolescentes con enfermedades respiratorias crónicas ha llevado a implementar estrategias como la rehabilitación respiratoria (RR). El presente artículo profundiza en las distintas indicaciones de la RR en distintos niveles de atención médica, distinto grado de dependencias tecnológicas y diversas patologías como: Fibrosis Quística, Bronquiolitis Obliterante, Enfermedades Neuromusculares, anomalías de caja torácica y escoliosis.
The increase in the life expectancy of children and adolescents with chronic respiratory diseases has led to implement strategies such as respiratory rehabilitation (RR). This article delves into the different indications of RR at different levels of medical care, different level of technological dependencies and different pathologies such as: Cystic Fibrosis, Bronchiolitis Obliterans, Neuromuscular Diseases, Rib cage abnormalities and Scoliosis.
Subject(s)
Humans , Child , Adolescent , Respiration Disorders/rehabilitation , Respiratory Therapy , Bronchiolitis Obliterans/rehabilitation , Chronic Disease , Cystic Fibrosis/rehabilitationABSTRACT
Sudden unexpected death in infancy (SUDI) - defined as the death of a child under 1 year of age du ring sleep with no initially obvious cause - remains one of the most common causes of post-neonatal mortality. Approximately 3,500 infants die annually in the United States from sleep-related deaths. A complex and multifactorial origin is postulated in a vulnerable infant. However, the pathophysiology of SUDI has not been fully understood. Health care providers play a key role in promoting preventive measures described in the literature, which include sleeping in a supine position on a firm surface, avoiding smoking and co-sleeping, promoting breastfeeding, among others. The objective of this re view is to summarize the main epidemiological and physiopathological characteristics of SUDI, and safe sleep-related factors.
Subject(s)
Sudden Infant Death , Female , Humans , Infant , Infant Mortality , Infant, Newborn , Male , Risk Factors , Sleep , Sudden Infant Death/epidemiology , Sudden Infant Death/prevention & controlABSTRACT
Since December 2019, the outbreak of a novel coronavirus SARS Cov-2 has been reported in Wuhan, China. Currently, the new coronavirus disease has been declared a worldwide pandemic. Compared to adults, reporting of cases in pediatric patients has been significant smaller. The objective of this article is to provide epidemiological information of COVID-19, especially pediatric. Most of the confirmed cases of children are declared to be a cluster disease. The clinic is oligosymptomatic, less severe and with concentrated risk in children under 1 year of age and with comorbidity. In Chile, pediatric patients represent about 6% of the total number of infected and overall lethality is significantly lower than adults. The main control measures to reduce effective reproduction are mass testing, social distancing and school closure, without dismissing individual responsibility. The adequate supply of personal protection elements is key to avoid nosocomial infection and the compromise of healthcare providers.
A partir de diciembre del 2019, se ha reportado el brote de una nueva infección por SARS Cov-2 en Wuhan, China. Actualmente, la enfermedad por el nuevo coronavirus 2019 ha alcanzado el estatus de pandemia. El reporte de casos en pacientes pediátricos ha sido escaso. El objetivo de este artículo es entregar información epidemiológica del COVID-19, especialmente pediátrica. Los niños han presentado enfermedad en clusters, secundaria a contacto con parientes enfermos. La clínica es oligosintomática, menos severa y mayor riesgo concentrado en menores de 1 año y con comorbilidad. En Chile, los pacientes pediátricos representan cerca del 6% del total y la letalidad global es notablemente más baja que en adultos. Las principales medidas de control para la reducción de la reproducción efectiva son el testeo masivo, distanciamiento social y cierre escolar, sin desestimar la responsabilidad individual. El adecuado abastecimiento de elementos de protección personal es clave para evitar la infección nosocomial y del personal de salud.
Subject(s)
Humans , Child , Pneumonia, Viral/epidemiology , Coronavirus Infections/epidemiology , Betacoronavirus , Chile/epidemiology , PandemicsABSTRACT
In December 2019, a novel virus called SARS-CoV-2 emerged in China. In March 2020, the World Health Organization (WHO) declared that the world was undergoing a pandemic. With a massive outbreak of severe cases and deaths, there has been an urgency in the medical community to seek effective treatments to prevent the progression of the disease and reduce its fatality rate. This review analyzes the therapeutic options available for the disease based on the recommendations from WHO, scientific societies and the still scarce scientific evidence available on treatment of CoVID-19.
En diciembre del 2019 emergió un nuevo virus denominado SARS-CoV-2 en China. En marzo de 2020 la Organización Mundial de la Salud (OMS) declaró que el mundo estaba sufriendo una pandemia. Con un gran brote de casos graves y fallecidos se ha producido una urgencia en la comunidad médica por buscar tratamientos efectivos para evitar la progresión de la enfermedad y disminuir su letalidad. En esta revisión se analizan las opciones terapéuticas disponibles para la enfermedad en base a las recomendaciones de la OMS, de sociedades científicas y a la aún escasa evidencia científica disponible para el tratamiento del CoVID-19.
Subject(s)
Humans , Child , Pneumonia, Viral/therapy , Coronavirus Infections/therapy , Betacoronavirus , Oxygen Inhalation Therapy , Pneumonia, Viral/drug therapy , Respiration, Artificial/methods , Risk Factors , Coronavirus Infections/drug therapyABSTRACT
The better understanding of the global activity of vitamin D has led to an intense search for its involvement in non-skeletal diseases. This article presents an updated review of the relationship between vitamin D and pediatric respiratory pathology. A literature search was performed in PUBMED using free terms and MESH terms: vitamin D, asthma, respiratory system diseases, and bronchiolitis. Stu dies in human patients younger than 18 years and animals, published in English and Spanish until 2017 were included. 507 articles were found, of which 43 were included. Indirect evidence suggests a role of vitamin D and fetal lung maturation. In relation to pediatric pulmonary pathology, studies are scarce and inconclusive. Recent meta-analyses performed with individualized evaluation of the participants shows an important protective role of vitamin D supplementation in the prevention of severe asthma exacerbations and acute viral infections. In bronchiolitis, the results are contradictory, with no clear relationship between plasma levels and severity. There is not enough evidence to assess the benefits of vitamin D supplementation in cystic fibrosis and tuberculosis. A direct relationship between the severity of sleep-related breathing disorders and vitamin D plasma levels has recently been proposed, although the exact mechanisms involved in this association are unknown. Current information suggests that vitamin D supplementation may represent a cost-effective strategy in redu cing important causes of infant morbidity and mortality.
Subject(s)
Respiratory Tract Diseases/etiology , Vitamin D Deficiency/complications , Biomarkers/blood , Child , Dietary Supplements , Humans , Lung/embryology , Pediatrics , Respiratory Tract Diseases/drug therapy , Respiratory Tract Diseases/prevention & control , Risk Factors , Vitamin D/blood , Vitamin D/physiology , Vitamin D/therapeutic use , Vitamin D Deficiency/blood , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/drug therapy , Vitamins/blood , Vitamins/physiology , Vitamins/therapeutic useABSTRACT
Existen diversos lisados bacterianos, siendo OM-85 (Broncho-Vaxom®) el que posee mayor evidencia en cuanto a su rol inmunoprotector sobre infecciones respiratorias en población pediátrica. Sus mecanismos de acción producen efectos inmunomoduladores que potencialmente podrían prevenir el asma en etapas precoces de la vida, actuar sobre la disminución de crisis y ser un aporte a la terapia convencional del asma. Este artículo expone las principales evidencias en relación con estos compuestos, con enfoque en la actualidad y el desarrollo futuro, en especial sobre OM-85.
There are several bacterial lysates, being OM-85 (Broncho-Vaxom®) the one with the greatest evidence regarding its immunoprotective role on respiratory infections in the pediatric population. Its mechanisms of action produce immunomodulatory effects that could potentially prevent asthma in early stages of life, act on the reduction of crisis and be a contribution to conventional asthma therapy. This article shows the main evidences in relation to these compounds, the current focus and future development, especially on OM-85.
Subject(s)
Humans , Respiratory Tract Infections/prevention & control , Asthma/drug therapy , Adjuvants, Immunologic/therapeutic use , Asthma/complications , Asthma/immunology , Anti-Bacterial Agents/therapeutic useABSTRACT
Resumen: El mejor entendimiento sobre la actividad global de la vitamina D, ha llevado a una intensa búsque da de sus implicancias en enfermedades no esqueléticas. En este artículo se presenta una revisión actualizada de la relación entre la vitamina D y la patología respiratoria pediátrica. Se realizó una búsqueda bibliográfica en PUBMED utilizando términos libres y MESH: vitamina D, enfermedades del sistema respiratorio, asma, bronquiolitis. Se seleccionó estudios en humanos menores de 18 años y animales, publicados en inglés y español hasta el 2017. Se encontraron 507 artículos, de los cuales se incluyeron 43. Evidencia indirecta apunta hacia un rol de la vitamina D y la maduración pulmonar fetal. En relación a la patología pulmonar pediátrica, los estudios son escasos y poco concluyentes. Nuevos meta - análisis, con evaluación individualizada de los participantes, muestran un importante rol protector de la suplementación en la prevención de exacerbaciones asmáticas severas e infecciones virales agudas. En bronquiolitis los resultados son contradictorios, sin relación clara entre niveles plasmáticos y severidad. No existe suficiente evidencia que evalué los beneficios en fibrosis quística y tuberculosis. Recientemente se ha propuesto una relación directa entre la severidad de los trastornos respiratorios del sueño y los niveles plasmáticos de vitamina D, aunque se desconoce los mecanismos exactos involucrados a esta asociación. La información actual permite suponer que la suplementación de vitamina D puede representar una estrategia costo - efectiva en la reducción de importantes causas de morbimortalidad infantil.
Abstract: The better understanding of the global activity of vitamin D has led to an intense search for its involvement in non-skeletal diseases. This article presents an updated review of the relationship between vitamin D and pediatric respiratory pathology. A literature search was performed in PUBMED using free terms and MESH terms: vitamin D, asthma, respiratory system diseases, and bronchiolitis. Stu dies in human patients younger than 18 years and animals, published in English and Spanish until 2017 were included. 507 articles were found, of which 43 were included. Indirect evidence suggests a role of vitamin D and fetal lung maturation. In relation to pediatric pulmonary pathology, studies are scarce and inconclusive. Recent meta-analyses performed with individualized evaluation of the participants shows an important protective role of vitamin D supplementation in the prevention of severe asthma exacerbations and acute viral infections. In bronchiolitis, the results are contradictory, with no clear relationship between plasma levels and severity. There is not enough evidence to assess the benefits of vitamin D supplementation in cystic fibrosis and tuberculosis. A direct relationship between the severity of sleep-related breathing disorders and vitamin D plasma levels has recently been proposed, although the exact mechanisms involved in this association are unknown. Current information suggests that vitamin D supplementation may represent a cost-effective strategy in redu cing important causes of infant morbidity and mortality.
Subject(s)
Humans , Child , Respiratory Tract Diseases/etiology , Vitamin D Deficiency/complications , Pediatrics , Respiratory Tract Diseases/prevention & control , Respiratory Tract Diseases/drug therapy , Vitamin D/physiology , Vitamin D/blood , Vitamin D/therapeutic use , Vitamin D Deficiency/diagnosis , Vitamin D Deficiency/drug therapy , Vitamin D Deficiency/blood , Vitamins/physiology , Vitamins/blood , Vitamins/therapeutic use , Biomarkers/blood , Risk Factors , Dietary Supplements , Lung/embryologyABSTRACT
Introducción: El cuidador familiar cuestiona su capacidad para cuidar cuando la persona que cuida sufre una descompensación aguda de la enfermedad crónica y requiere hospitalización en una unidad de pacientes críticos. En esta situación, se hace fundamental determinar la autoeficacia o capacidad del cuidador para organizar y ejecutar un cuidado que sea eficaz y que permita prevenir conductas riesgosas, tanto para su salud como para la de su familiar. Objetivo: Conocer la percepción de autoeeficacia del cuidador familiar de la persona en estado crítico por descompensación de su enfermedad crónica, que se encuentra en las Unidades de Paciente Crítico del Hospital Dr. Guillermo Grant Benavente de Concepción, y relacionarla con sus características biopsicosociales y con los indicadores de morbilidad de la persona hospitalizada. Metodología: Estudio cuantitativo, correlacional y de corte transeccional. Se aplicó la Escala de Autoeficacia para el Cuidado, la Escala de Autoestima y un cuestionario semiestructurado a 97 cuidadores familiares. Resultados: La autoeficacia fue mayor en los cuidadores hombres y se obtuvo una relación estadísticamente significativa con edad, nivel de estudios, autoestima, conocimiento del tratamiento y duración de la enfermedad. Conclusiones: Se observó cómo algunas características biopsicosociales del cuidador e indicadores de morbilidad de la persona en estado crítico se relacionan con su percepción de autoeeficacia e influyen en su decisión de adoptar una conducta promotora de salud frente a su autocuidado y el de su familiar.
Introduction: The familial caregivers question their capacity to care when patients suffer acute decompensations due to their chronic illnesses and require hospitalization in critical patients units. In these situations, it is fundamental to determine the caregiver self-efficacy in organizing and providing care which is effective and allows the prevention of risk-posing behaviors, both from the patients as well as from the patients' families. Objective: To explore the self-efficacy perception of familial caregivers towards the persons in critical status admitted to Critical Patient Units of the ''Dr. Guillermo Grant Benavente de Concepción'' hospital, as well as the related associations with bio-psycho-social characteristics and morbidity indicators. Methodology: This is a quantitative, correlational and trans-sectional study. A Care Self-Efficacy scale, a Self-Esteem scale, and a semi-structured questionnaire were conducted with 97 familial caregivers. Results: Self-Efficacy was higher among male caregivers, and statistically significant relations with age, level of studies, self-esteem, knowledge of the treatment, and illness duration were found. Conclusions: It was observed that some bio-psycho-social characteristics of the caregiver, as well as some morbidity indicators of the person in critical status, were associated to the caregivers' perception of their self-efficacy, and to the patients' strength to adopting health-promoting conducts towards themselves and their families.
Introdução: O cuidador familiar questiona a sua capacidade para cuidar quando o paciente sofre uma descompensação aguda da doença crónica e requer hospitalização em una unidade de pacientes críticos. Nesta situação, faz-se fundamental determinar a auto eficácia ou capacidade do cuidador para organizar e executar um cuidado que seja eficaz e que permita prevenir condutas arriscadas, tanto para sua saúde como a de seu familiar. Objetivo: Conhecer a percepção de auto eficácia do cuidador familiar com o paciente em estado crítico por descompensação de sua patologia crónica, que se encontra nas Unidades de Paciente Crítico do Hospital Dr. Guillermo Grant Benavente de Concepción, e relacioná-la com suas caraterísticas biopsicossociais e com os indicadores de mobilidade da pessoa hospitalizada. Metodologia: Estudo quantitativo, correlacional e de corte transeccionado. Aplicou-se a Escala de Auto eficácia para o Cuidado, a Escala de Autoestima e um questionário semiestruturado a 97 cuidadores familiares. Resultados: A auto eficácia foi maior nos cuidadores homens e obteve-se uma relação estatisticamente significativa com idade, nível de estudos, autoestima, conhecimento do tratamento e duração da doença. Conclusões: Observou-se como algumas caraterísticas biopsicossociais do cuidador e indicadores de mobilidade da pessoa em estado crítico, relacionam-se com sua percepção de auto eficácia e influenciam em sua decisão de adoptar uma conduta promotora de saúde perante a seu autocuidado e de seu familiar.
Subject(s)
Humans , Male , Female , Patients , Caregivers , Self EfficacyABSTRACT
Pediatric sleep medicine has shown a considerable development during the last decades; however, sleep disorders epidemiology is varied and limited, mainly by the various definitions used. This articucle refers to prevalence data obtained by studies that include medical history, questionnaires and/or sleep studies. It includes the analysis of factors that may influence its epidemiology: age, gender, obesity, prenatal factores, ethnicity, socieconomic status and influence of some respiratory diseses susch as asthma and rhinitis. In addiction, aspects related to the natural evolution of respiratorty sleep disorders are described
La medicina del sueño pediátrica ha avanzado considerablemente durante las últimas décadas; sin embargo la evidencia epidemiológica es variada y limitada, principalmente por las diversas definiciones empleadas. El presente artículo profundiza sobre aspectos de prvalencia mediante estudios de anamnesis, cuestionarios y/o estudios de sueño; se incluye el análisis de factores que pueden influir en su epidemiología; edad, género, obesidad, factores prenatales, etnia genética, nivel socioeconómico e influencia de algunas enfermedades respiratorias como asma y rinitis. Adicionalmente, se describen aspectos relacionados con la evolución natural de los trastornos respiratorios del sueño
Subject(s)
Humans , Male , Female , Child , Sleep Apnea, Obstructive , Sleep Apnea Syndromes/epidemiology , Socioeconomic Factors , Sex Factors , Hoarseness/epidemiology , Prevalence , Age Factors , Environment , Overweight/complications , Obesity/complications , Obesity/epidemiologyABSTRACT
Sleep disordered breathing (SDB) is frencuent en pediatric patients with neuromuscular diseases, generated by different should be conduced early and with a preset frecuency, even more if there is the clinical suspicion of SDB and respiratory function imparment. There are different diagnostic studies, each with its advantages and disadvantages. Polysomnography is considered the reference standard and alternatively, pólygraphy has shown a high level of correlation with respiratory events
Los trastornos respiratorios del sueño (TRS) son frecuentes en los pacientes pediátricos con enfermedades neuromusculares, siendo generados por diversos mecanismos fisiopatológicos que usualmente llevan a hipoventilación y síndrome de apnea hipopnea obstructiva del sueño. la indicación de estudio debe ser precoz y con una periocidad prestablecida, más aún frente a la sospecha clínica del TRS y al constatar alteraciones funcionales respiratorias. Existen disitintos estudios para su diagnóstico y seguimiento, incluso en pacientes con soporte ventilatorio no invasivo; cadas uno con ventajas e inconvenientes particulares. Destaca la polisomnografía, como estándar de referencia y como alternativa, la poligrafía que ha demostrado tener un alto índice de correlación con eventos respiratorios
Subject(s)
Humans , Sleep Apnea Syndromes/diagnosis , Neuromuscular Diseases/complications , Sleep Apnea Syndromes/physiopathology , Polysomnography , Muscular Dystrophy, Duchenne/complications , Sleep Apnea, Obstructive/diagnosis , HypoventilationABSTRACT
Resumen: ANTECEDENTES: la inducción del trabajo de parto es un procedimiento que se indica cuando existe riesgo de continuar el embarazo, en lugar de interrumpirlo. Esta maniobra enfrenta nuevas presiones, por lo que es necesario mantener actualizado el conocimiento sobre su indicación. En los últimos años se han desarrollado protocolos clínicos de mayor eficacia y seguridad, que han hecho más accesible este procedimiento. OBJETIVO: emitir un consenso actualizado y analizar los diferentes aspectos de la práctica cotidiana relacionada con la inducción del trabajo de parto. MATERIALES Y MÉTODOS: se integró un grupo de especialistas de trece instituciones nacionales para analizar diferentes aspectos de la práctica cotidiana de la inducción del trabajo de parto. Se siguió una metodología tipo Delphi de cuatro etapas, con bibliografía de normas clínicas internacionales de apoyo. CONCLUSIONES: la inducción del trabajo de parto considera los siguientes criterios: establecer con certeza que el procedimiento ofrece el mejor desenlace para la madre y el feto, confirmar la edad gestacional, realizar la evaluación obstétrica completa y contar con infraestructura para enfrentar las posibles complicaciones. Existen diferentes opciones para la inducción del trabajo de parto; sin embargo, en los últimos años se ha generalizado la prescripción de análogos de prostaglandinas (misoprostol) en todo el mundo. El especialista debe efectuar la evaluación individualizada de la paciente y el feto, con la finalidad de descartar situaciones que comprometan la salud de ambos. La complicación más común de la inducción del trabajo de parto es la taquisistolia, que puede asociarse con desprendimiento prematuro de placenta, rotura uterina y sufrimiento fetal agudo. Los óvulos vaginales de liberación controlada representan la única opción para retirar el estímulo con dinoprostona o misoprostol ante efectos adversos.
Abstract: BACKGROUND: Induction of labor is a maneuver indicated when there is a greater risk of continuing the pregnancy, than interrupting it. The induction of labor faces new pressures that make it necessary for the doctor to be permanently updated. In recent years, clinical protocols of greater efficiency and safety have been developed, which have made this procedure more accessible. OBJECTIVE: To present an updated consensus and to analyze the different aspects related to the labor induction. MATERIAL AND METHODS: A Delphi-type of consensus was conducted with participation of active obstetricians and gynecologists specialists from thirteen national institutions. Major clinical-oriented topics of induction of labor were addressed. CONCLUSIONS: To induce labor, it is necessary that at least the following situations coexist: to establish with certainty that the procedure offers the best outcome for the mother and her child, to confirm the gestational age, to make a complete obstetric evaluation and to have the infrastructure Necessary to deal with possible complications. There are several options to induce labor, although in recent years the indication of prostaglandin analogues (misoprostol) has become the most common option worldwide. The specialist must make an individualized evaluation of the patient and the fetus, in order to rule out situations that may endanger the health of any of them. The most common complication of labor induction is tachysystole, which can be complicated by premature placental abruption, uterine rupture and acute fetal distress, requiring urgent attention. Controlled-release vaginal ovules are the only option available to withdraw the stimulus with dinoprostone or misoprostol in the presence of adverse effects.
ABSTRACT
Introduction: A high prevalence of sleep-disordered breathing (SDB) has been reported in neuromuscular disease (NMD) patients. Our aim was to describe the results of sleep studies performed by overnight polygraphy in pediatric ward of a public hospital from Concepción, Chile. Additionally, we purposed to define its utility in the treatment of children with NMD. Methods: Records of NMD patients admitted at G. Grant Benavente Hospital, from 2011 to 2015 were considered. The therapeutic approaches were classified as: non invasive ventilation, surgical treatment and follow up. Results: From 36 patients initially admitted in the study 5 were excluded. Patients median age was 10 years-old (range: 0.3-19), 74% (n = 23) were males. Diagnosis were: Duchenne muscular dystrophy in 12 patients (39%), Myelomeningocele in 6 (19%), Hypotonic syndrome in 5 (16%), Miopathy in 3 (10%), Spinal muscular atrohpy in 3 (10%) and other NMD in 2 patients (6%). Median of polygraphy valid time was 7.3 h (range:4.3-10.5). Median of mean values of O2 saturation was 97% (range: 91-99%) and median of minimum O2 saturation was 90% (51-95%). Six polygraphies (19%) were normal and 25 (81%) showed some degree of SDB. From this group 60% had a mild, 28% (n = 7) had a moderate and 12% (n = 3) presented a severe SDB. Fifteen patients (65%) were under non invasive ventilation, nine (29%) of them received medical treatment and two of them (6%) surgical treatment. There was no difference between the magnitude of SDB and therapeutic approach. Moreover, no association between the severity of SDB and therapeutic approach was found. Conclusion: Polygraphy allows objective diagnosis of SDB in children with NMD and is a suitable tool to define therapeutic conducts.
Introducción: Los pacientes con enfermedades neuromusculares (ENM) presentan una alta prevalencia de trastornos respiratorios del sueño (TRS). El objetivo de este estudio fue describir los resultados de estudios poligráficos y mostrar su utilidad para el establecimiento de conductas terapéuticas en niños con ENM de un hospital público de Chile. Metodología: Se consideraron registros de PG de niños con ENM. Las conductas terapéuticas fueron clasificadas como: asistencia ventilatoria no invasiva (AVNI), cirugía y observación y seguimiento. Los resultados se expresan en mediana y rango. Los tests de Kruskal-Wallis y χ2 fueron empleados. Fue considerado significativo unp < 0,05. Resultados: Al estudio ingresan 36 pacientes, siendo excluidos 5, la mediana de edad fue 10 años (0,3-19), 74% varones. Diagnósticos: Distrofia neuromuscular de Duchenne 39% (n = 12), Mielomeningocele 19% (n = 6), Síndrome hipotónico 16% (n=5), Miopatia 10% (n = 3), Atrofia espinal 10% (n = 3), otros 6% (n = 2). El tiempo validado de la poligrafía fue 7,3 h (4,3-10,5), la mediana de la saturación de O2 promedio fue 97% (91-99) y de la saturación de O2 mínima 90% (51-95). Las poligrafías fueron normales en 6 pacientes (19%) y sugerentes de TRS en 25 (81%). Entre ellas se consideró SAHOS leve 60% (n = 15), moderado 28% (n = 7) y severo 12% (n = 3). En 20 pacientes (65%) se decidió iniciar AVNI, en 9 (29%) observación y seguimiento y en 2 (6%) tratamiento quirúrgico. No existió asociación entre la categorización de gravedad de SAHOS y conducta terapéutica. Conclusión: La poligrafía permite el diagnóstico objetivo de TRS en niños con ENM y constituye una herramienta útil para determinación de conductas terapéuticas.
Subject(s)
Humans , Animals , Male , Child , Polysomnography/methods , Sleep Apnea, Obstructive/physiopathology , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Severity of Illness Index , Software Design , Oximetry , Clinical Record , Data Interpretation, Statistical , Retrospective Studies , Statistical DataABSTRACT
Introduction: Post-infectious bronchiolitis obliterans (BO) is a chronic respiratory disease that is established as a consequence of a lung infection produced by adenovirus. The clinical and radiological evidence as well as spirometric variables are the cornerstones of diagnosis; however, the functional impact of lung damage, assessed through the six minute walking test (6MWT), has been scarcely studied in this group of patients, notwithstanding it has been recommended in the Chilean guidelines. The aim of the study is to evaluate the correlation between spirometric variables and 6MWT performance in patients diagnosed with BO. Patients and Methods: Correlation study conducted in pediatric pulmonary rehabilitation program of Guillermo Grant Benavente Hospital from Concepción. Chile. Records of spirometry (FEV1, FVC, FEV1/FVC and FEF25-75) and 6MWT(Distance walked (DW), heart rate, oxygen saturation, dyspnea and leg fatigue) of 22 children and adolescents diagnosed with BO were selected. The absolute values of spirometric and 6MWT variables were compared with reference values of Knudson et al and Gatica et al respectively. Results are expressed by median and range (maximum and minimum). In the statistical analysis, normality test (Kolmogorov-Smirnov), non-parametric test (Wilcoxon, Mann-Whitney) and correlation analysis (Rho-Spearman) were done by SPSS 11.5 with significance of p < 0.05. Results: The spirometry was obstructive in all patients, advanced ventilatory limitation was found in 9 children, moderate in 4, mild in 3 and minimum in 6. The WD was 597 m (750-398), 9% below the predicted value according to age (p < 0.003). The WD was lower in those with greater severity in spirometric impairment (p = 0.012). The WD expressed as a percentage of predicted value showed a significant correlation with % FEV1 (r = 0.70, p = 0.0001), FEV1/FVC ratio (r = 0.58, p = 0.004) and FEF25-75% (r = 0.70, p = 0.0001). On the other hand only saturation at the end of 6MWT showed significant correlation with % FVC (r = 0.44, p = 0.04). Conclusion: Performance during the 6MWT was positively correlated with spirometry, validating the 6MWT as a tool to assess the functional impact of lung damage in patients with BO. Future prospective studies are needed to evaluate the correlation between lung function and exercise tolerance in these patients.
Introducción: La bronquiolitis obliterante (BO) post infecciosa es una enfermedad respiratoria crónica que se establece como secuela de una infección pulmonar principalmente por adenovirus. La evidencia clínica, espirométrica y radiológica son los pilares del diagnóstico, sin embargo, pese a estar sugerido en las actuales guías nacionales, la repercusión funcional del daño pulmonar a través del test de caminata de seis minutos (C6M) ha sido escasamente estudiado en este grupo de pacientes. El objetivo de este estudio es evaluar la correlación entre variables espirométricas y resultado del C6M en una muestra de pacientes con BO. Pacientes y Métodos: Estudio correlacional donde fueron seleccionados los registros de espirometría (VEF1, CVF, VEF1/CVF y FEF25-75) y de C6M (Distancia caminada (DC), frecuencia cardíaca, saturación de oxígeno, disnea y fatiga de piernas) de 22 niños y adolescentes con diagnóstico de BO ingresados al programa de rehabilitación respiratoria infantil del Hospital Dr. Guillermo Grant Benavente de Concepción. Los valores absolutos de las variables espirométricas y C6M se compararon con valores predichos de Knudson y Gatica respectivamente. En el análisis estadístico se realizaron pruebas de normalidad (Kolmogorov-Smirnov), de contraste (Wilcoxon y Mann-Whitney) y análisis de correlación (Rho-Spearman). Los resultados se expresan en mediana, rango máximo y mínimo. Se consideró significativo p < 0,05. Resultados: En la espirometría se encontró alteración ventilatoria obstructiva de grado avanzado en 9, moderada en 4, leve en 6 y mínima en 3 niños. La DC fue de 597 m (750-398), 9% por debajo del valor predicho para la edad (p < 0,003). La DC fue menor en aquellos con mayor grado severidad en la alteración espirométrica (p = 0,012). La DC expresada en porcentaje del valor predicho mostró una correlación significativa con % VEF1 (r = 0,70;p = 0,0001), índice VEF1/CVF (r = 0,58;p = 0,004) y % FEF25-75 (r = 0,70;p = 0,0001). Sólo la saturación al final del C6M se correlacionó significativamente con % CVF (r = 0,44; p = 0,04). Conclusión: El rendimiento durante el C6Mse correlacionó con espirometría, validando al C6M como herramienta para valorar la repercusión funcional del daño pulmonar en pacientes con BO. Futuros estudios son necesarios para confirmar esta correlación.
Subject(s)
Humans , Male , Female , Child , Adolescent , Spirometry , Bronchiolitis Obliterans/etiology , Bronchiolitis Obliterans/physiopathology , Walking/physiology , Oxygen Consumption/physiology , Respiratory Function Tests/methods , Respiratory Tract Infections/complications , Vital Capacity/physiology , Forced Expiratory Volume/physiology , Heart Rate/physiology , Lung/physiopathologyABSTRACT
Un Evento de Aparente Amenaza de la Vida o ALTE (del inglés: Apparent Life Threatening Event) corresponde a un episodio agudo que ante los ojos del observador pone en riesgo la vida de un lactante menor de 1 año. Debe presentar la combinación de 2 o más de los criterios siguientes: apnea / cambio de color / alteración del tono / atoro e implicar la necesidad de algún tipo de maniobras para reanimar. En el presente consenso sobre el manejo de un ALTE se revisaron la evidencia internacional y nacional respecto al enfoque diagnóstico, estudio etiológico, criterios y duración de hospitalización y las indicaciones de monitorización domiciliaria.
Apparent life threatening events are defined as an acute episode in which the observer fears an infant < 1 year may die. ALTE is characterized by some combination of apnea, color or muscle tone change, chocking and has to be followed by cardiorespiratory reanimation. The present consensus paper reviews international and national evidence concerning diagnosis, etiologies, hospitalization criteria and indications for home monitoring.
Subject(s)
Humans , Infant , Infant Care/standards , Brief, Resolved, Unexplained Event/diagnosis , Brief, Resolved, Unexplained Event/therapy , Ambulatory Care , Apnea , Consensus , Brief, Resolved, Unexplained Event/etiology , Hospitalization , Monitoring, Physiologic , Patient Discharge , Risk Factors , Sudden Infant DeathABSTRACT
Apparent life threatening events are defined as an acute episode in which the observer fears an infant < 1 year may die. ALTE is characterized by some combination of apnea, color or muscle tone change, chocking and has to be followed by cardiorespiratory reanimation. The present consensus paper reviews international and national evidence concerning diagnosis, etiologies, hospitalization criteria and indications for home monitoring.
Subject(s)
Airway Obstruction/therapy , Apnea/therapy , Emergencies , Acute Disease , Cardiopulmonary Resuscitation/methods , Hospitalization , Humans , InfantABSTRACT
Background: The pulmonary rehabilitation (PR) has acquired an important role in neuromuscular patient treatment. The aim was to investigate the effects of PR program on 6-minute walking test variables (6MWT) and respiratory muscle function (RMF) in patients with neuromuscular disease. Patients and Methods: In the study were included 13 patients, age 12.5 +/- 2.8 years old. Seven of them were able to walk (2 Facioscapulohumeral Muscular Dystrophy (FSHD), 1 Becker Muscular Dystrophy, 1 Congenital Myopathy, 1 Bethlem Syndrome, 2 Duchenne Muscular Dystrophy); and 6 were unable to walk (4 Duchenne Muscular Dystrophy, 1 Spinal Muscular Atrophy (SMA) type III and 1 SMAII). The results of RMF and 6MWT before and after 13 weeks of respiratory muscle training (RMT) (40-50 percent Pimax and 60-70 percent Pemax) and aerobic training (AT) (50 percent heart rate reserve) were analyzed. Wilcoxon test with 95 percent confidence interval was used to assess statistical significance. Results: Significant changes (p < 0.05) were observed in the averages of dyspnea score that decreased in 1.8 points (from 4.4 to 2.6; -40.9 percent) and in sustained inspiratory pressure (Pims) that increased in 14.3 cm H2O (from 16 to 30.3; +89.4 percent). Other variables that assessed aerobic capacity (6 MWT, heart rate and leg fatigue) and RMF (Pimax and Pemax) showed a trend towards improvement, but did not reach statistical significance. Conclusion: In patients with neuromuscular diseases significant changes in dyspnea after cardiopulmonary training protocol were observed. Moreover, the moderate intensity respiratory muscle training was well tolerated and an effective method to generate significant increases in Pims, constituting an alternative to previously established protocols.
Introducción: La rehabilitación respiratoria (RR) ha adquirido un papel importante en el manejo del paciente con enfermedad neuromuscular. El objetivo de este estudio fue investigar los efectos de un programa de rehabilitación respiratoria (RR) sobre variables del test de caminata de 6 min (C6M) y función muscular respiratoria (FMR) en pacientes con patología neuromuscular. Pacientes y Métodos: En el estudio se incluyeron 13 pacientes, edad: 12,5 +/- 2,8 años, de los cuales 7 son ambulantes (2 distrofia muscular (DM) fascio-escápulo-humeral, 1 DM de Becker, 1 miopatía congénita, 1 síndrome de Bethlem, 2 DM de Duchenne); y 6 no son ambulantes (4 DM de Duchenne, 1 atrofia espinal (AT) tipo 3 y 1AT 2). Se analizaron los registros de FMR y C6M al inicio y posterior a 13 semanas de entrenamiento muscular respiratorio (40-50 por ciento Pimax y 60-70 por ciento Pemax) y cardiopulmonar (50 por ciento de FCR). Se utilizó el test no paramétrico de Wilcoxon con un intervalo de confianza de 95 por ciento. Resultados: Se observaron cambios significativos (p < 0,05) en el puntaje de disnea que disminuyó 1,8 puntos (de 4,4 a 2,6; -40,9 por ciento) y en la presión inspiratoria máxima sostenida (Pims) que aumentó 14,3 cm de H2O (de 16 a 30,3 cm H(2)0; +89,4 por ciento). Las otras variables que evaluaron capacidad aeróbica (C6M, frecuencia cardíaca y fatiga de las piernas) y función de los músculos respiratorios (Pimax y Pemax) mostraron una tendencia a la mejoría, sin embargo, no alcanzaron significación estadística. Conclusiones: En pacientes con enfermedades neuromusculares se observan cambios significativos en la disnea posterior a un protocolo de entrenamiento cardiopulmonar. Por otra parte, el entrenamiento muscular respiratorio de moderada intensidad fue un método bien tolerado y efectivo para generar incrementos significativos en la Pims, constituyendo una alternativa a los protocolos previamente establecidos.
Subject(s)
Humans , Male , Adolescent , Female , Child , Breathing Exercises , Neuromuscular Diseases/rehabilitation , Breath Tests , Exercise Tolerance , Neuromuscular Diseases/physiopathology , Forced Expiratory Volume , Gait , Respiratory Insufficiency/rehabilitation , Prospective Studies , Vital CapacityABSTRACT
Introduction: Cystic Fibrosis (CF) is an autosomal recessive disease and affects 1 in 8000-9000 newborns in Chile. More than 1,800 different mutations have been identified in CFTR gene. The available molecular diagnosis analyzes the 36 most frequent mutations in Caucasian population, with an overall detection rate of80-85 percent, but with a much lower detection rate in Chilean patients of 42 percent. To analyze which other mutations are present in Chilean patients, we conducted an extensive analysis by direct DNA sequencing of coding sequences of the CFTR gene. Methods: Forty eight Chilean patients with clinical diagnosis of CF and one mutated allele in the CFTR gene identified, were studied by direct sequence analysis of exons 6, 7, 14, 19 and 20 of the CFTR gene. Results: We found 3 different mutations in 14 cases that had not been previously identified in Chilean patients. Four patients have a deletion of two nucleotides (c.2462_2463delGT/p.Ser821ArgfsX4) in exon 14, which is predicted to cause a frame shift and a premature stop codon. Eight patients have c.3196C>T mutation in the exon 20 and 2 cases has c.3039delC mutation in the exon 19. Both mutations had been previously described in other populations. Discussion: The identification of these mutations has notably increased the detection rate in our patients. Adapting the molecular diagnosis method by including these three mutations should increase the CF detection rate in Chilean patients. This analysis will improve CF diagnosis and allow an adequate genetic counseling to the families.
Introducción: La fibrosis quística (FQ) es una enfermedad con herencia autosómica recesiva, que presenta una incidencia de 1 en 8.000 a 9.000 recién nacidos en Chile. A la fecha se han descrito más de 1.800 mutaciones diferentes en el gen CFTR. El diagnóstico molecular disponible consiste en el análisis de las 36 mutaciones presentes con mayor frecuencia en población caucásica, donde se describe una tasa de detección de un 85 por ceinto. Sin embargo, en Chile el rendimiento corresponde a un 42 por ciento. Por esta razón, hemos iniciado un análisis sistemático en la región codificante del gen CFTR con el fin de identificar los restantes alelos en pacientes chilenos con FQ. Métodos: Análisis por secuenciación de los exones 6,7,14,19y 20, en 48pacientes chilenos del Programa Nacional de FQ. Se incluyeron pacientes con criterios clínicos y de laboratorio de FQ, y con sólo una mutación identificada en el panel de 36 mutaciones. Resultados: Se identificaron 3 mutaciones diferentes que no se analizan en el panel de diagnóstico molecular y que no habían sido reportadas en pacientes chilenos, totalizando 14 casos. Cuatro casos corresponden a una nueva mutación en el exón 14, que produce un corrimiento en el marco de lectura y un codón de término prematuro (c.2462_2463delGT/p.Ser821ArgfsX4). Ocho casos presentan la mutación c.3196C>T en el exón 20, mientras que en 2 casos se encontró la mutación c.3039delC en el exón 19. Ambas mutaciones han sido descritas previamente en otras poblaciones. Discusión: La identificación de estas mutaciones ha incrementado notablemente la tasa de detección obtenida en nuestros pacientes. Esto crea la necesidad de adaptar el análisis molecular inicial en pacientes chilenos con FQ, redundando en un diagnóstico de certeza en gran parte de los casos y permitiendo un adecuado asesoramiento genético para las familias.
Subject(s)
Humans , Cystic Fibrosis/epidemiology , Cystic Fibrosis/genetics , Mutation , Cystic Fibrosis Transmembrane Conductance Regulator , Chile/epidemiology , Molecular Diagnostic Techniques , Polymerase Chain Reaction , Sequence AnalysisABSTRACT
Sleep Disorders can generate significant impact in the health of children and adolescents at a highly vulnerable period for neurodevelopment. A proper history and physical exam can lead the diagnosis, however there are significant limitations especially in the early phases of illness. Children with specific risks require a high level of suspicion, and early diagnostic studies. This review describes various diagnostic alternatives, feasible in different clinical situations, during sleep or wakefulness. These diagnostic studies may be useful in detection and early treatment of Sleep Disorders.
Los Trastornos Respiratorios del Sueño (TRS) pueden generar un impacto en la salud de niños y adolescentes, en un periodo altamente vulnerable para el neurodesarrollo. La anamnesis y examen fisco pueden orientar a su diagnóstico, sin embargo, poseen limitaciones importantes, especialmente en etapas precoces de la enfermedad. En niños con factores de riesgo específicos es necesario tener un alto nivel de sospecha y realizar estudios diagnósticos. Este artículo de revisión tiene como objetivo describir las distintas alternativas diagnósticas, practicables en distintos escenarios clínicos y realizadas durante el sueño o vigilia. Estos métodos diagnósticos pueden ser de utilidad en el reconocimiento y tratamiento precoz de los TRS.
