RESUMO
BACKGROUND: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment. CASE REPORT: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome. CONCLUSIONS: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.
INTRODUCCIÓN: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo. CASO CLÍNICO: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert. CONCLUSIONES: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Masculino , Recém-Nascido , Humanos , Criança , Cerebelo/anormalidades , Cerebelo/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Retina/anormalidades , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Hipotonia Muscular/patologia , Qualidade de Vida , Diagnóstico PrecoceRESUMO
OBJECTIVE: To use clinical, lung ultrasound, and gas exchange data to clarify the evolution of lung aeration and function in neonates with respiratory distress syndrome (RDS) and transient tachypnea of the neonate (TTN), the most common types of neonatal respiratory failure. STUDY DESIGN: In this prospective observational cohort study, lung aeration and function were measured with a semiquantitative lung ultrasound score (LUS) and transcutaneous blood gas measurement performed at 1 hour (time point 0), 6 hours (time point 1), 12 hours (time point 2), 24 hours (time point 3) and 72 hours (time point 4) of life. Endogenous surfactant was estimated using lamellar body count (LBC). LUS, oxygenation index (OI), oxygen saturation index (OSI), and transcutaneous pressure of carbon dioxide (PtcCO2) were the primary outcomes. All results were adjusted for gestational age. RESULTS: Sixty-nine neonates were enrolled in the RDS cohort, and 58 neonates were enrolled in the TTN cohort. LUS improved over time (within-subjects, P < .001) but was worse for the RDS cohort than for the TTN cohort at all time points (between-subjects, P < .001). Oxygenation improved over time (within-subjects, P = .011 for OI, P < .001 for OSI) but was worse for the RDS cohort than for the TTN cohort at all time points (between-subjects, P < .001 for OI and OSI). PtcCO2 improved over time (within-subjects, P < .001) and was similar in the RDS and TTN cohorts at all time points. Results were unchanged after adjustment for gestational age. LBC was associated with RDS (ß = -0.2 [95% CI, -0.004 to -0.0001]; P = .037) and LUS (ß = -3 [95% CI, -5.5 to -0.5]; P = .019). CONCLUSIONS: For the first 72 hours of life, the RDS cohort had worse lung aeration and oxygenation compared with the TTN cohort at all time points. CO2 clearance did not differ between the cohorts, whereas both lung aeration and function improved in the first 72 hours of life.
Assuntos
Síndrome do Desconforto Respiratório do Recém-Nascido , Taquipneia Transitória do Recém-Nascido , Humanos , Recém-Nascido , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Taquipneia , Taquipneia Transitória do Recém-Nascido/diagnóstico por imagem , Ultrassonografia , Estudos Prospectivos , Estudos de Coortes , Pulmão/diagnóstico por imagem , Pulmão/fisiologiaRESUMO
Se realiza revisión de la literatura y presentación de un caso clínico de Hiperplasia de Células Neuroendocrinas en paciente lactante masculino que inicia su padecimiento a los 3 meses de vida con dificultad respiratoria caracterizada por retracciones subcostales y taquipnea persistente, posterior-mente a los 8 meses de edad se agrega hipoxemia respirando aire ambiente que requiere uso de oxígeno suplementario continuo. Tiene antecedente de tres hospitalizaciones, con diagnóstico de Bronquiolitis y Neumonía atípica, realizándose panel viral respiratorio con reporte negativo. El paciente persiste con sintomatología respiratoria a pesar de tratamientos médicos, por lo que se deriva a neumología pediátrica, unidad de enfermedad pulmonar intersticial del lactante, iniciando protocolo de estudio, se realiza tomografía tórax de alta resolución, que evidencia imágenes en vidrio despulido en lóbulo medio y región lingular, además de atrapamiento aéreo. Se concluye el diagnóstico de Hiperplasia de Células neuroendocrinas con base a la clínica y hallazgos tomográficos. La Hiperplasia de Células Neuroendocrinas es una patología pulmonar intersticial poco frecuente, cuyo diagnóstico es clínico y radiológico, en la minoría de los casos se requiere biopsia pulmonar para confirmación. Puede ser fácilmente confundida con otras enfermedades respiratorias comunes, por lo que es importante sospecharla para realizar un diagnóstico precoz. La mayor parte de los casos evolucionan con declinación de los síntomas, mejorando espontáneamente en los primeros años de vida.
A review of the literature and presentation of a clinical case of Neuroendocrine Cell Hyperplasia in a male infant patient who begins his condition at 3 months of age with respiratory distress characterized by subcostal retractions and persistent tachypnea is presented. After 8 months of age hypoxemia is added requiring continuous oxygen therapy. He has a history of three hospitalizations, with a diagnosis of bronchiolitis and atypical pneumonia, respiratory viral panel has a negative report. The patient persists with respiratory symptoms despite medical treatments, so it is referred to pediatric pulmonology, initiating study protocol for interstitial lung disease of the infant. A high resolution chest tomography is performed, which evidences images in polished glass in the middle lobe and lingular region, in addition to air entrapment. The diagnosis of neuroendocrine cell hyperplasia is concluded based on clinical and tomographic findings. Neuroendocrine Cell Hyperplasia is a rare interstitial pulmonary pathology, whose diagnosis is clinical and radiological. Lung biopsy is required only in the minority of cases for confirming diagnosis. It can be easily confused with other common respiratory diseases, so it is important to suspect it to make an early diagnosis. Most cases evolve with decline in symptoms, improving spontaneously in the first years of life.
Assuntos
Humanos , Masculino , Lactente , Doenças Pulmonares Intersticiais/complicações , Células Neuroendócrinas/patologia , Taquipneia/etiologia , Hiperplasia/complicações , Tomografia Computadorizada por Raios X , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Hiperplasia/diagnóstico por imagemRESUMO
Abstract Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment. Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome. Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.
Resumen Introducción: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo. Caso clínico: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert. Conclusiones: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.
RESUMO
Introducción: a nivel mundial la taquipnea transitoria del recién nacido se presenta entre el 0.3 y 0.5 % de todos los recién nacidos, aunque existen algunas series mexicanas que reportan hasta el 2 % de todos los recién nacidos vivos. Comprende entre el 35 y 50 % de todos los casos de dificultad respiratoria no infecciosa que ingresan a los cuneros patológicos o unidades de cuidado intensivo neonatal.1 Mientras que las tasas de criptorquidia e hidrocele son más altas en los niños nacidos por cesárea (3.3 y 4.7 %, respectivamente), en comparación con los obtenidos por vía vaginal (1.7 y 1.6 %).2 Descripción del caso: neonato de 39 semanas de gestación con taquipnea transitoria del recién nacido, criptorquidia e hidrocele atendido en el servicio de atención al recién nacido de un hospital de segundo nivel de atención. Objetivo: proporcionar cuidados especializados, utilizando el proceso de atención de enfermería basado en los conceptos teóricos del modelo de autocuidado de Dorothea E. Orem. Método: estudio de caso, dado que en este diseño se observan los fenómenos en su contexto natural, el cual se realizó en la tercera semana de mayo 2021. Consideraciones éticas: se tomaron en cuenta aspectos bioéticos para la investigación clínica basada en evidencia científica, como la ley de Helsinki y el código de Nuremberg. Resultado: se logró que el neonato y su cuidador primario alcanzaran las metas propuestas al inicio del ingreso hospitalario, mediante la continua capacitación sobre los cuidados generales del recién nacido. Conclusión: la taquipnea transitoria, criptorquidia e hidrocele son alteraciones que pueden ser detectadas al momento de la exploración al neonato.
Introduction: worldwide, transient tachypnea of the newborn occurs in 0.3 to 0.5% of all newborns, although there are some Mexican series that report up to 2% of all live newborns. It comprises 35-50% of all cases of noninfectious respiratory distress admitted to pathological nurseries or neonatal intensive care units.1 While the rates of cryptorchidism and hydrocele are higher in infants born by cesarean section (3.3% and 4.7%, respectively), compared to those obtained vaginally (1.7% and 1.6%).2 Case description: the case study was conducted on a 39-week gestational neonate with Transient Tachypnea of Newborn, Cryptorchidism and Hydrocele seen in the Newborn Care service of a second-level care hospital. Objective: to provide specialized care, using the nursing care process based on the theoretical concepts of Dorothea E. Orem's Self-Care Model. Orem. Method: is a case study, given that in this design the phenomena are observed in their natural context, which was carried out in the third week of May 2021. Ethical considerations: bioethical aspects for clinical research based on scientific evidence, such as the Helsinki law and the Nuremberg code, were taken into account. Result: the neonate and his primary caregiver were able to achieve the goals proposed at the beginning of hospital admission, through continuous training on general newborn care. Conclusion: transient tachypnea, cryptorchidism and hydrocele are alterations that can be detected at the time of examination of the newborn.
Assuntos
Humanos , Masculino , Recém-Nascido , Lactente , Recém-Nascido , Criptorquidismo , Taquipneia Transitória do Recém-Nascido , Hidrocele Testicular , Cuidados de EnfermagemRESUMO
Abstract Objective: The objective of this meta-analysis was to study the diagnostic value of lung ultrasound (LUS) for transient tachypnea of the newborn (TTN). Methods: Embase, Cochrane Library, PubMed, Web of Science, and Google Scholar were searched, and the last search date was October 31, 2020. Studies on the diagnostic accuracy of pulmonary ultrasound for transient tachypnea were included. The quality assessment of the included study was assessed using the Diagnostic Accuracy Studies-2 tool. A meta-analysis was performed using Meta-Disc 1.4. A random-effects model was used and subgroup analysis was carried out to identify possible sources of heterogeneity. Results: A total of 378 articles were retrieved and nine studies with 3239 patients were included in the present meta-analysis. The overall quality of the included studies was moderate to high. The result of threshold analysis shows that there was no threshold effect. However, there was a significant heterogeneity caused by non-threshold effects in the included studies. A random-effects model was used. The pooled sensitivity, specificity, PLR and NLR were 0.55 (95% CI: 0.51-0.58), 0.98 (95% CI: 0.98-0.99), 58.30 (95% CI: 14.05-241.88) and 0.28 (95% CI: 0.18-0.43). The pooled DOR and AUC were 689.12 (95% CI: 68.71 to 6911.79) and 0.994. The results of subgroup analysis showed that the LUS diagnostic criteria and gold standard might be responsible for heterogeneity. Choosing "DLP combined with B line" as the diagnostic standard of LUS and choosing CXR as the gold standard could significantly improve the diagnostic performance of LUS. Conclusion: LUS is a promising method to diagnose TTN. Only DLP is not enough to diagnose TTN, while DLP combined with B-line has good diagnostic performance.
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RESUMEN Introducción: Polipnea y taquipnea tienen significados diferentes en diversos textos y los estudiantes de Medicina se desorientan al estudiar la Semiología de la disnea. Objetivo: Elucidar la disparidad semántica entre polipnea y taquipnea. Material y Métodos: Se realizó una revisión bibliográfica utilizando los descriptores en ciencias de la salud taquipnea y polipnea. Se realizó una búsqueda en quince textos de Semiología Médica y en otros libros y revistas, impresos y electrónicos, entre ellos, la Revista Española de Cardiología (enero 1997 a diciembre 2020) en Archivos de Bronconeumología(diciembre 1964 a diciembre 2020); y se hizo el análisis etimológico de las palabras estudiadas, en Medigraphic (2012-21). Resultados: Seis de quince textos de Semiología consideran sinónimos polipnea y taquipnea; cuatro, solo emplean polipnea; y dos, taquipnea. Tres distinguen taquipnea como aumento de la frecuencia respiratoria; de polipnea, respiración superficial y rápida; dos definen taquipnea como aumento de la frecuencia respiratoria simple o con disminución de la amplitud (respiración superficial) y polipnea o hiperpnea, como aumento de la profundidad respiratoria con incremento de la frecuencia. En revistas científicas, taquipnea apareció en 192 artículos como respiración rápida y superficial; con igual significado se encontró polipnea, en 27. Según origen, taquipnea significa aceleración del ritmo respiratorio; polipnea, respiración muy frecuente y superficial, sin relación con polýpnóoos: "que sopla con fuerza" e hiperpnea significa incremento de la velocidad y amplitud de los movimientos respiratorios. Conclusiones: Polipnea y taquipnea deben considerarse equivalentes de respiración rápida y superficial; taquipnea simple, si la amplitud respiratoria es normal; e hiperpnea denomina la respiración muy frecuente y profunda.
ABSTRACT Introduction: Polypnea and tachypnea have different meanings in several texts, and medical studentsmay get confusedwith just the study of the semiology of dyspnea. Objective: Toelucidatethe semantic gap between polypnea and tachypnea. Material and Methods: A bibliographic review was conducted usinghealth science descriptors such as tachypnea and polypnea; a search was performed in 15 texts of Medical Semiology and other printed or electronic books and journals, among them, theRevista Española de Cardiología(fromJanuary 1997 to December 2020) andArchivos de Bronconeumología (from December 1964 toDecember 2020); in addition, the etymological analysis of these words was carried out in Medigraphic (2012-2021). Results: Six out of fifteen texts on semiology consider that the termspolypnea and tachypnea are synonymous; fourtexts only use polypnea; and two use the term tachypnea. Three texts distinguish tachypnea as increased respiratory rate, andpolypnea as arapid, shallow breathing; two texts define tachypnea as a simple increase in the respiratory rateor a decrease in the respiratory amplitude (shallow breathing); and polypnea or hyperpnea as the increasein depth and rate of breathing.In scientific journals, the term tachypnea was usedin 192 papersto refer to rapid, shallow breathing; andpolypnea had the same meaning in 27 articles. According to its origin, tachypnea means rapid respiratory rate; Polypnea is presented as very frequent and shallow breathing, unrelated to polýpnoos: "that blows forcefully"; while hyperpneameans an increase in the speed and amplitude of respiratory movements. Conclusions: Polypnea and tachypnea should be considered as equivalents of rapid andshallow breathing; simple tachypneaif the respiratory amplitude is normal; and hyperpnea designs a very frequent and deep breathing.
Assuntos
Humanos , Masculino , Feminino , Publicações Periódicas como Assunto , Cardiologia , Taxa Respiratória , Taquipneia , Estudantes de MedicinaRESUMO
OBJECTIVE: The objective of this meta-analysis was to study the diagnostic value of lung ultrasound (LUS) for transient tachypnea of the newborn (TTN). METHODS: Embase, Cochrane Library, PubMed, Web of Science, and Google Scholar were searched, and the last search date was October 31, 2020. Studies on the diagnostic accuracy of pulmonary ultrasound for transient tachypnea were included. The quality assessment of the included study was assessed using the Diagnostic Accuracy Studies-2 tool. A meta-analysis was performed using Meta-Disc 1.4. A random-effects model was used and subgroup analysis was carried out to identify possible sources of heterogeneity. RESULTS: A total of 378 articles were retrieved and nine studies with 3239 patients were included in the present meta-analysis. The overall quality of the included studies was moderate to high. The result of threshold analysis shows that there was no threshold effect. However, there was a significant heterogeneity caused by non-threshold effects in the included studies. A random-effects model was used. The pooled sensitivity, specificity, PLR and NLR were 0.55 (95% CI: 0.51-0.58), 0.98 (95% CI: 0.98-0.99), 58.30 (95% CI: 14.05-241.88) and 0.28 (95% CI: 0.18-0.43). The pooled DOR and AUC were 689.12 (95% CI: 68.71 to 6911.79) and 0.994. The results of subgroup analysis showed that the LUS diagnostic criteria and gold standard might be responsible for heterogeneity. Choosing "DLP combined with B line" as the diagnostic standard of LUS and choosing CXR as the gold standard could significantly improve the diagnostic performance of LUS. CONCLUSION: LUS is a promising method to diagnose TTN. Only DLP is not enough to diagnose TTN, while DLP combined with B-line has good diagnostic performance.
Assuntos
Pulmão , Taquipneia , Humanos , Recém-Nascido , Pulmão/diagnóstico por imagem , Ultrassonografia/métodosRESUMO
La hiperplasia de células neuroendocrinas de la infancia (HCNEI) constituye una de las enfermedades intersticiales más frecuentes en pediatría. Tanto su etiología como los mecanismos fisiopatológicos involucrados son inciertos. Suele presentarse en pacientes por lo demás sanos, durante los primeros meses de vida con taquipnea, retracciones costales, rales e hipoxemia. En la tomografía axial computada de tórax de alta resolución (TACAR) presenta imágenes características en vidrio esmerilado de distribución central y zonas de atrapamiento aéreo. Para el diagnóstico, además de la clínica y la TACAR, podemos recurrir a la biopsia en casos atípicos. Los hallazgos histológicos reflejan una arquitectura pulmonar normal y un aumento en el número de células neuroendocrinas. El manejo global es con medidas de sostén, ya que no se cuenta con un tratamiento específico. La sintomatología suele mejorar con la edad y el pronóstico es favorable.
Neuroendocrine cell hyperplasia of infancy (NEHI) is one of the most common interstitial lung diseases of childhood. The etiology and pathophysiological mechanisms involved are uncertain. It usually presents in otherwise healthy patients during the first months of life with tachypnea, rib retractions, crackles, and hypoxemia. High-resolution chest computed tomography (HRCT) shows ground-glass opacities of central distribution and areas of air trapping. For diagnosis purposes, in addition to clinical and HRCT features, a lung biopsy is indicated for atypical cases. Histological findings reflect normal architecture and an increased number of neuroendocrine cells. The management consists of supportive and preventive care, since there is no specific treatment. Symptoms usually improve with age and the prognosis is favorable.
Assuntos
Humanos , Criança , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/terapia , Células Neuroendócrinas/patologia , Taquipneia/etiologia , Prognóstico , Hiperplasia , Hipóxia/etiologiaRESUMO
KEY POINTS: The costs associated with immune and thermal responses may exceed the benefits to the host during severe inflammation. In this case, regulated hypothermia instead of fever can occur in rodents as a beneficial strategy to conserve energy for vital functions with consequent tissue protection and hypoxia prevention. We tested the hypothesis that this phenomenon is not exclusive to mammals, but extends to the other endothermic group, birds. A decrease in metabolic rate without any failure in mitochondrial respiration, nor oxygen delivery, is the main evidence supporting the regulated nature of endotoxin-induced hypothermia in chicks. Thermolytic mechanisms such as tachypnea and cutaneous vasodilatation can also be recruited to facilitate body temperature decrease under lipopolysaccharide treatment, especially in the cold. Our findings bring a new perspective for evolutionary medicine studies on energy trade-off in host defence because regulated hypothermia may be a phenomenon spread among vertebrates facing a severe immune challenge. ABSTRACT: A switch from fever to regulated hypothermia can occur in mammals under circumstances of reduced physiological fitness (e.g. sepsis) to direct energy to defend vital systems. Birds in which the cost to resist a pathogen is additive to the highest metabolic rate and body temperature (Tb ) among vertebrates may also benefit from regulated hypothermia during systemic inflammation. Here, we show that the decrease in Tb observed during an immune challenge in birds is a regulated hypothermia, and not a result of metabolic failure. We investigated O2 consumption (thermogenesis index), ventilation (respiratory heat loss), skin temperature (sensible heat loss) and muscle mitochondrial respiration (thermogenic tissue) during Tb fall in chicken chicks challenged with endotoxin [lipopolysaccharide (LPS)]. Chicks injected with LPS were also tested regarding the capacity to raise O2 consumption to meet an increased demand driven by 2,4-dinitrophenol. LPS decreased Tb and the metabolic rate of chicks without affecting muscle uncoupled, coupled and non-coupled mitochondrial respiration. LPS-challenged chicks were indeed capable of increasing metabolic rate in response to 2,4-dinitrophenol, indicating no O2 delivery limitation. Additionally, chicks did not attempt to prevent Tb from falling during hypothermia but, instead, activated cutaneous and respiratory thermolytic mechanisms, providing an additional cooling force. These data provide the first evidence of the regulated nature of the hypothermic response to endotoxin in birds. Therefore, it changes the current understanding of bird's thermoregulation during severe inflammation, indicating that regulated hypothermia is either a convergent trait for endotherms or a conserved response among vertebrates, which adds a new perspective for evolutionary medicine research.
Assuntos
Hipotermia , Animais , Temperatura Corporal , Regulação da Temperatura Corporal , Galinhas , Endotoxinas/toxicidadeRESUMO
The brainstem region medullary raphe modulates non-shivering and shivering thermogenesis and cutaneous vasomotion in rodents. Whether the same scenario occurs in the other endothermic group, i.e. birds, is still unknown. Therefore, we hypothesised that the medullary raphe modulates heat gain and loss thermoeffectors in birds. We investigated the effect of glutamatergic and GABAergic inhibitions in this specific region on body temperature (Tb), oxygen consumption (thermogenesis), ventilation (O2 supply in cold, thermal tachypnea in heat) and heat loss index (cutaneous vasomotion) in one-week-old chicken exposed to neutral (31°C), cold (26°C) and heat (36°C) conditions. Intra-medullary raphe antagonism of NMDA glutamate (AP5; 0.5, 5 mM) and GABAA (bicuculline; 0.05, 0.5 mM) receptors reduced Tb of chicks at 31°C and 26oC, due mainly to an O2 consumption decrease. AP5 transiently increased breathing frequency during cold exposure. At 31°C, heat loss index was higher in the bicuculline and AP5 groups (higher doses) than vehicle at the beginning of the Tb reduction. No treatment affected any variable tested at 36oC. The results suggest that glutamatergic and GABAergic excitatory influences on the medullary raphe of chicks modulate thermogenesis and glutamatergic stimulation prevents tachypnea, without having any role in warmth-defence responses. A double excitation influence on the medullary raphe may provide a protective neural mechanism for supporting thermogenesis during early life, when energy expenditure to support growth and homeothermy is high. This novel demonstration of a thermoregulatory role for the raphe in birds suggests a convergent brainstem neurochemical regulation of body temperature in endotherms.
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INTRODUCTION: Neuroendocrine cell hyperplasia of infancy (NEHI) is one of the most common interstitial lung diseases in children. Both the etiology and pathophysiological mechanisms of the disease are still unknown. Prognosis is usually favorable; however, there are significant morbidities during the early years of life. OBJECTIVE: To describe the clinical course, infant pulmonary function tests and computed tomography (CT) findings in a cohort of patients with NEHI in Argentina. METHODS: This is a observational multicenter cohort study of children diagnosed with NEHI between 2011 and 2020. RESULTS: Twenty patients participated in this study. The median age of onset of symptoms was 3 months and the median age at diagnosis was 6 months. The most common clinical presentation was tachypnea, retractions and hypoxemia. The chest CT findings showed central ground glass opacities and air trapping. Infant pulmonary function tests revealed an obstructive pattern in 75% of the cases (10/12). Most patients (75%) required home oxygen therapy for 17 months (interquartile range 12-25). In 85% of them, tachypnea and hypoxemia spontaneously resolved between the second and third years of life. CONCLUSION: In this cohort, the first symptoms appeared during the early months of life. The typical clinical, CT, and functional findings allowed the diagnosis without the need of a lung biopsy. Although most patients required home oxygen therapy, they showed a favorable evolution.
Assuntos
Doenças Pulmonares Intersticiais , Células Neuroendócrinas , Estudos de Coortes , Humanos , Hiperplasia/diagnóstico por imagem , Hiperplasia/patologia , Lactente , Pulmão/diagnóstico por imagem , Pulmão/patologia , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/patologia , Células Neuroendócrinas/patologia , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Bronchiectasis patients may present a reduced functional capacity due to an increase in the ventilatory demand during exercise. OBJECTIVE: To evaluate the effects of controlled voluntary hyperinflation and increased respiratory rate on the mechanics of the respiratory system, simulating what happens during exercise, in bronchiectasis and healthy subjects. METHODS: Bronchiectasis (n=30) and healthy (n=16) subjects were evaluated by impulse oscillometry (IOS) during a baseline condition, and in controlled conditions with baseline (b) tidal volume (V) and hyperinflation (H), with respiratory rates at 30(R30) and 40(R40) bpm, in a random order. The mixed effects and a significance level at 0.05 were used for comparisons. RESULTS: Resistance at 5Hz (R5), and at minus 20Hz (R5-R20), in kPa/L/s, were higher in subjects with bronchiectasis in all experimental conditions (p<0.05). For the bronchiectasis group, R5 and R5-20 increased with R increase at V (VRb versus VR30 and VR40; VR30 versus VR40; R5, R20 and R5-20 increased with R increase at H (HRb versus HR40; HR30 versus HR40). For the same R, there was a decrease with H compared to V (HRb versus VR30 and VR40; and HR30 versus VR30 and VR40). For the healthy group, only R20 showed differences (HR30 versus HR40; HR40 versus VR40). CONCLUSION: The tachypnea increases the resistance and reactance of the respiratory system in bronchiectasis patients, and the voluntary hyperinflation caused attenuates this increase. These results can guide the development of strategies to reduce the limitation of physical activity in patients with bronchiectasis.
Assuntos
Bronquiectasia , Sistema Respiratório , Resistência das Vias Respiratórias , Estudos Transversais , Humanos , Oscilometria/métodos , EspirometriaRESUMO
A clinical case of Neuroendocrine Cell Hyperplasia is presented with a bibliographic review. An infant patient with respiratory distress syndrome, characterized by nasal flaring, retractions, and tachypnea with temporary resolution with the use of bronchodilators. However, the patient requires oxygen. With complementary examinations (negative viral panel twice) and epidemiology it is classified as a viral Bronchiolitis. Without improvement, extrapulmonar pathologies were suspected, discarding hearth disease, epilepsy, pathological gastroesophageal reflux. New tests were performed to rule out other pathologies, including immunological disorders. Those results were normal, so a high-resolution chest tomography was done which allowed the diagnosis of Neuroendocrine Cell Hyperplasia. During the follow up the child had improved and required oxygen until he was two years old. Neuroendocrine Cell Hyperplasia belongs to a huge group of less common interstitial disorders, which diagnosis is clinical and radiological. It can easily be confused with common respiratory disorders. For this reason, it is important to know about this disease to make an early diagnosis. Most of the cases had a gradual (months to years) improvement.
Se presenta un caso clínico de Hiperplasia de Células Neuroendocrinas y la revisión de la literatura. Paciente lactante menor con cuadro de dificultad respiratoria, caracterizado por aleteo nasal, retracciones y taquipnea persistente acompañada de desaturación. Sin adecuada respuesta al uso de broncodilatadores. Por exámenes complementarios, panel viral negativo en dos ocasiones y epidemiología, se le diagnostica una bronquiolitis viral. Por no presentar mejoría se completan estudios, descartándose neumonía atípica, cardiopatía, epilepsia, reflujo gastroesofágico patológico y compromiso inmunológico. El diagnóstico fue determinado en base a la clínica, junto con imágenes en vidrio esmerilado característicos en lóbulo medio y língula. En su seguimiento mejora paulatinamente, requiriendo soporte de oxígeno hasta los dos años. La Hiperplasia de Células Neuroendocrinas es una patología intersticial pulmonar poco frecuente, cuyo diagnóstico es clínico y radiológico. Puede ser fácilmente confundida con desórdenes respiratorios comunes, por lo que es importante sospecharla para realizar un diagnóstico precoz. La mayor parte de los casos evolucionan con declinación de los síntomas, mejorando espontáneamente en meses o en los primeros años de vida.
Assuntos
Humanos , Lactente , Doenças Pulmonares Intersticiais/diagnóstico , Células Neuroendócrinas/patologia , Hiperplasia/diagnóstico , Oxigênio/uso terapêutico , Doenças Pulmonares Intersticiais/terapia , Taquipneia/etiologia , Hiperplasia/terapiaRESUMO
INTRODUCTION: Bronchiectasis patients may present a reduced functional capacity due to an increase in the ventilatory demand during exercise. OBJECTIVE: To evaluate the effects of controlled voluntary hyperinflation and increased respiratory rate on the mechanics of the respiratory system, simulating what happens during exercise, in bronchiectasis and healthy subjects. METHODS: Bronchiectasis (n=30) and healthy (n=16) subjects were evaluated by impulse oscillometry (IOS) during a baseline condition, and in controlled conditions with baseline (b) tidal volume (V) and hyperinflation (H), with respiratory rates at 30(R30) and 40(R40) bpm, in a random order. The mixed effects and a significance level at 0.05 were used for comparisons. RESULTS: Resistance at 5Hz (R5), and at minus 20Hz (R5-R20), in kPa/L/s, were higher in subjects with bronchiectasis in all experimental conditions (p<0.05). For the bronchiectasis group, R5 and R5-20 increased with R increase at V (VRb versus VR30 and VR40; VR30 versus VR40; R5, R20 and R5-20 increased with R increase at H (HRb versus HR40; HR30 versus HR40). For the same R, there was a decrease with H compared to V (HRb versus VR30 and VR40; and HR30 versus VR30 and VR40). For the healthy group, only R20 showed differences (HR30 versus HR40; HR40 versus VR40). CONCLUSION: The tachypnea increases the resistance and reactance of the respiratory system in bronchiectasis patients, and the voluntary hyperinflation caused attenuates this increase. These results can guide the development of strategies to reduce the limitation of physical activity in patients with bronchiectasis.
RESUMO
Tachypnea is a common symptom in respiratory diseases, generally triggered for metabolic compensation purposes. Its presence results from integrated complex mechanisms, both physiological and pathological; for a good clinical approach, it is indispensable to know these mechanisms.
La taquipnea es la manifestación más común de las enfermedades respiratorias y obedece generalmente a una respuesta de compensación metabólica. Su presencia resulta de mecanismos de integración complejos tanto fisiológicos como patológicos que es necesario conocer para el mejor abordaje clínico de un paciente.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Taquipneia/etiologia , Taquipneia/fisiopatologiaRESUMO
Abstract Objective: To identify predisposing factors to developing severe pneumonia in hospitalized children diagnosed with community-acquired pneumonia hospitalized in Cartagena's Napoleón Franco Pareja children's Hospital. Methods: Analytical observational cross-sectional study performed in patients under 18 years. Data from surveys and records were analyzed. Univariate and bivariate analysis was performed. The variables are grouped according to the presence or absence of complications and analyzed by jisquare test. We calculated OR of each of the dummy variables to evaluate their association with complications. A P < 0.05 was considered statistically significant for all analyses. Results: 301 patients with severe pneumonia were included. Riskfactors related to severity: age less than 3 months (OR: 4.86; CI 95%: 1,5 -14.3; p = 0.004); exclusive breastfeeding for less than 6 months (CI:95% 7,7-1,4; p = 0.0019); heart disease (OR: 5.37; CI 95%: 1,28-19,88, p = 0.010); prematurity (OR: 1.62, CI 95%: 0.93- 6.69, p = 0.034); Incomplete vaccination (OR: 2.32; CI: 95% 1.07 - 5.10; p = 0.015). Conclusions: It was found increased severity risk, statistically significant, in patients less than 6 months breastfeeding, prematurity, heart disease, incomplete vaccination scheme, and positive blood culture with Sp. pneumonia
Resumen Objetivo: Identificar factores predisponentes a desarrollar neumonía severa en niños hospitalizados con diagnóstico de NAC en el Hospital Infantil Napoleón Franco Pareja de Cartagena Colombia. Materiales y métodos: Estudio observacional transversal analítico en pacientes menores de 18 años hospitalizados con neumonía adquirida en la comunidad. Se analizaron datos obtenidos de encuestas y registros clínicos. Se realizó un análisis descriptivo univariado y bivariado. Las variables se agruparon según la presencia o no de complicación y se analizaron a través de la prueba ji cuadrado. Se realizó el cálculo de OR de cada una de las variables dicotómicas para evaluar su asociación a complicaciones. Una P<0,05 fue considerada como estadísticamente significativa para todos los análisis. Resultados: Se incluyeron 301 pacientes con neumonía grave. Los factores de riesgo más relacionados con severidad fueron: edad menor de 3 meses (OR: 4,86; IC 95%: 1,5-14,3; p 0,004); la lactancia materna exclusiva menor a 6 meses (IC 95%: 1,4- 7,7; p 0,0019); cardiopatía (OR: 5,37; IC 95%: 1,28-19,88; p: 0,010); prematurez (OR: 1,62; IC: 0,93-6,69; p: 0,034); esquema incompleto de vacunación (OR: 2,32; IC 95%: 1,07-5,10: p: 0,015). Conclusiones: Se encontró aumento de riesgo de severidad en pacientes con lactancia materna menor de 6 meses, prematurez, cardiopatía, esquema de vacunación incompleto, y hemocultivo con Sp. Neumoniae positivo.
RESUMO
RESUMO Objetivo: Avaliar o nível de conhecimento do cuidador em relação aos sinais e sintomas respiratórios de Infecções Respiratórias Agudas (IRA) e a percepção dos mesmos em relação às crianças que necessitam de assistência médica. Métodos: Estudo prospectivo e transversal, no qual um questionário padronizado com itens relacionados à percepção da gravidade dos sinais e sintomas de IRA foi administrado a cuidadores de pacientes pediátricos admitidos no serviço de emergência de um hospital universitário no período de agosto de 2011 a maio de 2012. A análise estatística foi realizada com os testes do qui-quadrado e t-Student para determinar quais variáveis contribuíram para o reconhecimento pelos cuidadores da gravidade das doenças respiratórias agudas. Resultados: Foram entrevistados 499 cuidadores. As causas de IRA mais citadas foram Síndrome gripal (78,6%), Resfriado comum (73,9%), Faringites (64,1%) e Pneumonia (54,5%). Febre (34,1%) e Tosse (15,8%) foram as principais razões para a procura de atendimento. Os sinais de gravidade mais citados pelos cuidadores foram: febre (99,6%), dispneia (91,4%), sibilância (86,4%), adinamia (80,2%), tosse (79,8%) e taquipneia (78,6%). O histórico de doença respiratória anterior do paciente (p=0,002), a idade (p=0,010) e o estado civil do cuidador (p=0,014) foram as variáveis significativamente associadas com taquipneia, o sintoma mais grave de IRA. Conclusões: Embora cuidadores pediátricos possam perceber os principais sinais de IRA, eles não são capazes de reconhecer a gravidade destes, o que pode atrasar os cuidados médicos e impedir o tratamento precoce.
ABSTRACT Objective: To assess the level of caregiver knowledge about respiratory signs and symptoms of acute respiratory infection (ARI) as well as their ability to detect the early warning signs and need for medical assistance in children referred to an emergency service. Methods: This is a prospective, cross-sectional study. A standardized questionnaire with questions on the perception of the severity of ARI signs and symptoms was applied to caregivers of pediatric patients assisted in the emergency room of a university hospital from August 2011 to May 2012. Chi-square and Student's t-tests were used to determine which variables contributed with caregivers' recognition of severity of acute respiratory diseases. Results: 499 caregivers were interviewed. The most cited causes of ARI were flu syndrome (78.6%), common cold (73.9%), pharyngitis (64.1%), and pneumonia (54.5%). Fever (34.1%) and cough (15.8%) were major reasons for referral to hospital. The most cited signs of severity recognized by caregivers were fever (99.6%), dyspnea (91.4%), wheezing (86.4%), adynamia (80.2%), coughing (79.8%), and tachypnea (78.6%). Children's history of respiratory diseases (p=0.002), caregiver's age (p=0.010) and marital status (p=0.014) were significantly associated with tachypnea, the most severe ARI symptom. Conclusions: Although caregivers of children can recognize ARI most important signs and symptoms, they are unable to judge severity, which may delay medical care and early treatment.
Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Idoso , Infecções Respiratórias/diagnóstico , Conhecimentos, Atitudes e Prática em Saúde , Cuidadores , Brasil , Doença Aguda , Estudos Transversais , Estudos Prospectivos , Diagnóstico Precoce , Pessoa de Meia-IdadeRESUMO
Resumen OBJETIVO: Comparar las complicaciones perinatales en pacientes con eclampsia, síndrome HELLP y su asociación. MATERIALES Y MÉTODOS: Estudio transversal y comparativo efectuado en mujeres con eclampsia, síndrome HELLP, o ambos, y sus neonatos atendidas en el Hospital Regional Docente de Cajamarca, Perú, entre el 1 de enero y el 31 de diciembre de 2015. La información se procesó con el programa Epi Info versión 7. Se usó la ANOVA y χ2 no paramétrica con Kruskal-Wallis para comparar grupos, y se consideró significativo un valor de p < 0.05. RESULTADOS: Se registraron 3411 nacimientos; 71 pacientes tuvieron eclampsia o síndrome HELLP. Las complicaciones perinatales de prematurez, menor peso y talla al nacer y Apgar más bajo fueron significativamente mayores en mujeres con síndrome HELLP que con eclampsia. En cuanto a prematurez hubo 30 (66.6%) casos de madres con síndrome HELLP, 14 (70%) con eclampsia asociada con síndrome HELLP y ninguno con eclampsia (p = 0.01). El peso promedio al nacimiento fue 2133.5 ± 66.7 g en síndrome HELLP y 3083.1 ± 67.8 g en eclampsia (p = 0.001). Hubo Apgar más bajo al minuto y a los cinco minutos en la combinación eclampsia y síndrome HELLP que en solo eclampsia (p = 0.002). No hubo diferencias significativas en la mortalidad, restricción del crecimiento fetal, asfixia neonatal, taquipnea transitoria, enfermedad de membranas hialinas, enterocolitis necrotizante, policitemia, ictericia patológica o sepsis. La tasa de cesáreas en síndrome HELLP fue 41 (91.1%) y en eclampsia 4 (66.6%) (p = 0.03). CONCLUSIONES: Las complicaciones perinatales son mayores pacientes con síndrome HELLP que con eclampsia.
Abstract OBJECTIVES: To compare perinatal complications in patients with eclampsia, HELLP syndrome and association. MATERIALS AND METHODS: a cross-sectional, comparative study conducted in women with eclampsia and / or HELLP syndrome and their perinates in Hospital Regional Docente de Cajamarca , Peru. Data obtained from 01/01/2015 to 12/31/15. Information processing was carried out with the Epi Info program version 7. The ANOVA and non-parametric χ2 with Kruskal-Wallis were used to compare groups, and a value of P <0.05 was considered significant. RESULTS: 71 women had eclampsia and / or HELLP syndrome of 3411 births. Perinatal complications such as prematurity, lower weight and height at birth and lower Apgar were significantly higher in HELLP syndrome than in eclampsia. Regarding prematurity, there were 30 (66.6%) in HELLP syndrome, 14 (70%) in eclampsia associated with HELLP syndrome and none in eclampsia (p = 0.01). Birth weight was 2133.5 ± 66.7 g in HELLP syndrome and 3083.1 ± 67.8 g in eclampsia (p = 0.001). Apgar was lower at minute and at 5 minutes in the combination eclampsia and HELLP syndrome than in eclampsia alone (p = 0.002). There were no significant differences in mortality, IUGR, neonatal asphyxia, transient tachypnea, hyaline membrane disease, necrotizing enterocolitis, polycythemia, pathological jaundice or sepsis. The rate of cesareans in HELLP syndrome was 41 (91.1%) and in eclampsia 4 (66.6%) (p = 0.03). CONCLUSIONS: Perinatal complications are greater in HELLP syndrome than in eclampsia.
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Contexto: la taquipnea transitoria del recién nacido (TTRN) es una entidad frecuente en neonatos nacidos por cesárea. Objetivo: identificar factores de riesgo potencialmente modificables que contribuyan a la disminución de la patología respiratoria neonatal derivada de un parto por cesárea Sujetos y métodos: se presenta un estudio observacional retrospectivo de cohorte analítico que identifico expedientes clínicos de recién nacidos por cesárea, atendidos en el Hospital de la Policía Quito N°1 en el periodo enero de 2001 a diciembre de 2015; el estudio incorporó neonatos entre 35 y 41 semanas de gestación, a quienes se clasificaron en 2 grupos: con y sin labor de parto previo a la cesárea. Resultados: la frecuencia de recién nacidos con taquipnea transitoria que se determinó en el presente estudio fue 25,6%, 29,4% y 44,8% en los respectivos grupos de edad gestacional determinándose una proporción es 5,1:1; 1,9:1 y 0,5:1 para cada grupo por lo que la relación entre un pretérmino leve frente a RN a término es 10 veces mayor para el grupo que desarrolla TTRN. Existe una mayor frecuencia de TTRN en neonatos de cesáreas sin labor de parto previa comparado con el grupo de neonatos nacidos por cesárea con labor de parto previa; esta diferencia es estadísticamente significativa con un OR de 5,8. Conclusión: se determinó que la labor de parto previa a la cesárea, constituyo un factor protector para taquipnea transitoria del recién nacido en neonatos entre 35 y 38 semanas. La labor de parto previa a la cesárea no fue un factor de protección frente al riesgo de desarrollar taquipnea transitoria del recién nacido en neonatos de 39 o más semana de gestación.(AU)
Context: transient tachypnea of the newborn (TTRN) is a frequent entity in neonates born by caesarean section, Objective: identify potentially modifiable risk factors that contribute to the reduction of neonatal respiratory pathology derived from a cesarean delivery Subjects and methods: We present a retrospective observational study of an analytical cohort that identified clinical records of newborns by caesarean section, attended at Quito Police Hospital No. 1 in the period January 2001 to December 2015; The study included neonates between 35 and 41 weeks of gestation, who were classified into 2 groups: with and without labor prior to cesarean section. Results: the frequency of newborns with transient tachypnea that was determined in the present study was 25.6%, 29.4% and 44.8% in the respective gestational age groups determining a proportion is 5.1: 1; 1.9: 1 and 0.5: 1 for each group, so that the relationship between a preterm mild versus a term BN is 10 times higher for the group that develops TTRN. There is a greater frequency of TTRN in neonates of caesarean sections without previous labor compared with the group of neonates born by caesarean section with previous labor; this difference is statistically significant with an OR of 5.8. Conclusion: labor prior to caesarean section constitutes a protective factor for transient tachypnea of thnewborn in neonates between 35 and 38 weeks. Labor prior to cesarean section is not a protective factor againsthe risk of developing transient tachypnea of the newborn in infants of 39 or more weeks of gestation.(AU)