Asunto(s)
Alopecia , Colangitis Esclerosante , Claudina-1/deficiencia , Hiperbilirrubinemia , Ictiosis , Trastornos Leucocíticos , Ácido Ursodesoxicólico/administración & dosificación , Alopecia/diagnóstico , Alopecia/genética , Alopecia/fisiopatología , Alopecia/terapia , Colagogos y Coleréticos/administración & dosificación , Colangitis Esclerosante/diagnóstico , Colangitis Esclerosante/genética , Colangitis Esclerosante/fisiopatología , Colangitis Esclerosante/terapia , Colestasis/diagnóstico , Colestasis/etiología , Colestasis/fisiopatología , Claudina-1/genética , Femenino , Pruebas Genéticas/métodos , Humanos , Hiperbilirrubinemia/diagnóstico , Hiperbilirrubinemia/etiología , Ictiosis/diagnóstico , Ictiosis/genética , Ictiosis/fisiopatología , Ictiosis/terapia , Recién Nacido , Trastornos Leucocíticos/diagnóstico , Trastornos Leucocíticos/genética , Trastornos Leucocíticos/fisiopatología , Trastornos Leucocíticos/terapia , Pruebas de Función Hepática/métodos , Mutación , Transaminasas/sangre , Vitaminas/administración & dosificaciónRESUMEN
Pain in children population is prevalent, but its proper diagnosis and management are frequently insufficient in pediatrics daily practice. Lack of knowledge of the professionals in charge is a recognized barrier to ensure an appropiate approach to pain in this population. Our present study reflects the current status of pain management and the challenges in diagnosis and treatment that pediatricians face in their daily work. This information is obtained from a survey made with a voluntary questionaire, desinged and distributed online by "Grupo Español para el Estudio del Dolor Pediátrico (GEEDP)" to pediatricians in Spain from october 2021 to march 2022. The final objective of the questionaire was to shed some light into the problem and find out which areas of pain management knowledge are in need of improvent.
Asunto(s)
Manejo del Dolor , Dolor , Niño , Humanos , Dolor/diagnóstico , Dolor/etiología , Dimensión del Dolor , España , Encuestas y CuestionariosRESUMEN
Pseudohypoaldosteronism (PHA) comprises a diverse group of rare diseases characterized by sodium and potassium imbalances incorrectly attributed to a defect in aldosterone production. Two different forms of PHA have been described, type I (PHAI) and type II (PHAII). PHAI has been subclassified into renal and systemic. Given the rarity and heterogeneity of this group of disorders we report three patients who carry PHA and a brief revision of current literature focused on the comparative analysis of PHAI and PHAII. Cases 1 and 2 presented with hyponatremia, hyperkalemia, metabolic acidosis and elevated plasma aldosterone and plasma renin activity in the neonatal period. Sequence analysis of the NRC2 gene demonstrated a novel heterozygous c.403C>T mutation in case 1 and a complete deletion in case 2, confirming the diagnosis of renal PHAI. Case 3 was a 4-year-old with hypertension, hyperkalemia, metabolic acidosis, normal plasma aldosterone and decreased plasma renin activity. Sequence analysis of the CUL3 gene demonstrated a previously unreported heterozygous c.1377+2T>3 mutation, confirming the diagnosis of PHAII-E. We highlight the importance of the determination of plasma aldosterone and plasma renin activity in the context of persistent sodium and potassium imbalances in children.
Asunto(s)
Proteínas Cullin/genética , Mutación , Seudohipoaldosteronismo/fisiopatología , Preescolar , Femenino , Humanos , Recién Nacido , Masculino , Seudohipoaldosteronismo/clasificación , Seudohipoaldosteronismo/genéticaRESUMEN
El dolor en Pediatría es un síntoma con frecuencia infradiagnosticado y deficientemente tratado a pesar de su prevalencia, siendo el déficit de conocimientos de los pediatras una de las barreras para garantizar un manejo eficaz. El presente trabajo describe el escenario actual y los retos en el abordaje diagnóstico y terapéutico del dolor infantil por pediatras en nuestro medio. Los resultados se obtienen de un estudio transversal descriptivo que se realiza entre octubre de 2021 y marzo de 2022 mediante encuesta de difusión a pediatras españoles diseñada por el Grupo Español para el Estudio de Dolor Pediátrico. Se pone el foco especialmente en las oportunidades de formación en diferentes aspectos del dolor pediátrico. (AU)
Pain in children population is prevalent, but its proper diagnosis and management are frequently insufficient in pediatrics daily practice. Lack of knowledge of the professionals in charge is a recognized barrier to ensure an appropiate approach to pain in this population. Our present study reflects the current status of pain management and the challenges in diagnosis and treatment that pediatricians face in their daily work. This information is obtained from a survey made with a voluntary questionaire, desinged and distributed online by Grupo Español para el Estudio del Dolor Pediátrico to pediatricians in Spain from October 2021 to March 2022. The final objective of the questionaire was to shed some light into the problem and find out which areas of pain management knowledge are in need of improvement. (AU)
Asunto(s)
Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Manejo del Dolor/tendencias , Pediatría , Pediatras , Epidemiología Descriptiva , Estudios Transversales , Encuestas y Cuestionarios , EspañaRESUMEN
OBJECTIVE: To report, to our knowledge, the first case of detection of human metapneumovirus in the cerebrospinal fluid of a patient during acute encephalitis. DESIGN: Case report. SETTING: University hospital. PATIENT: A 10-year-old girl with acute encephalitis. RESULTS: Human metapneumovirus was detected in cerebrospinal fluid and nasal-wash specimens during the initial phase of mild encephalitis. Abrupt clinical deterioration was associated with the presence of multiple areas of demyelination and cortical abnormalities. Demyelinated areas improved after immunomodulatory therapy, but cortical lesions spread in both hemispheres. Surprisingly, clinical worsening occurred when the virus became undetectable in cerebrospinal fluid. CONCLUSIONS: The detection of human metapneumovirus in cerebrospinal fluid strongly suggests its causative role in acute encephalitis. The evolution of the clinical and radiological features provided insight into the pathogenesis of human metapneumovirus encephalitis.
Asunto(s)
Anticuerpos Antivirales/líquido cefalorraquídeo , Encefalitis/líquido cefalorraquídeo , Encefalitis/virología , Metapneumovirus/patogenicidad , Enfermedad Aguda , Corteza Cerebral/patología , Corteza Cerebral/virología , Niño , Encefalitis/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Infecciones por Paramyxoviridae/complicacionesRESUMEN
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