ABSTRACT
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Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Pandemics , Coronavirus Infections/epidemiology , Telemedicine , Electronic MailABSTRACT
OBJETIVOS: El control de la cadena de frío constituye uno de los eslabones más importantes para garantizar la efectividad de las vacunas, por lo que es necesario disponer de recursos materiales y humanos específicos para su gestión. El objetivo principal es valorar las interrupciones de la cadena de frío de los últimos 6 años y el posible ahorro económico que supondrían nuevas mejoras. MÉTODO: Estudio retrospectivo, descriptivo, basado en la revisión de todas las interrupciones de la cadena de frío en los últimos 6 años, en el Centro de Salud Valdefierro. RESULTADOS: Cinco interrupciones, con temperatura máxima de 23,1±3,4°C y 25,2±20,7 h de interrupción; 1.611 vacunas fueron afectadas y 165 desechadas. La pérdida económica total fue 2.098,10 € y el ahorro 33.611,64 €. El fallo de suministro eléctrico fue la causa de interrupción en los 5 casos. CONCLUSIONES: El equipamiento y el personal son esenciales. Se tomaron medidas como minimizar los periodos entre controles sobre la nevera, control de stocks mínimos y, valorar cambios en la población, y se ha solicitado un sistema de suministro eléctrico
OBJECTIVES: Cold chain control is one of the most important facts to ensure the effectiveness of vaccines links, which requires specific material and human resources for management. The principal objective is to evaluate the interruptions in cold chain of the last 6 years and the possible cost savings that would result in further improvements. Method: A retrospective and descriptive study based on a review of all cold chain interruptions during the last 6 years, at Valdefierro Primary Health Center. RESULTS: We had 5 interruptions, the maximum temperature reached was 23.1±3.4°C and the longest interruption lasted 25.2±20.7 hours.1611 vaccines were affected and 165 discarded. Total economic loss was 2.098,10 € and 33.611,64 € were savings. The electrical failure was the disruption cause in 5 cases. CONCLUSIONS: Equipment and staff are essential. The center did some corrective actions, such as minimizing refrigerator time control, minimum stock control, considering population changes, and the center has requested a electrical supply system
Subject(s)
Vaccines/supply & distribution , Refrigeration , Drug Stability , Nursing Care , Primary Health Care , Drug Storage/standardsABSTRACT
Los trastornos del ciclo de la urea suponen hasta el 60% de las hiperamoniernias graves neonatales. La base de los trastornos de este ciclo deriva en el déficit de una de sus enzimas. El déficit de la enzima ornitina transcarbamilasa es el más frecuente. Su pronóstico dependerá del grado de deficiencia enzimOtica, la edad, la precocidad del diagnóstico e inicio del tratamiento. Presentamos el caso de un adolescente que, a partir de un cuadro de parálisis facial periférica tratado con prednisona, presentó agravamiento de su estado general y falleció a los pocos días. Las cifras elevadas de amoniaco en sangre hicieron sospechar tardíamente de una alteración congénita del ciclo de la urea, que fue confirmada por su estudio genético post mortem. Se estudiaron los familiares y se asesoró a los afectos y portadores. Reflexionamos sobre la importancia de los programas de cribado neonatal y la posibilidad de aplicarlos en la detección de los errores congénitos del metabolismo.(AU)
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.(AU)
ABSTRACT
Los trastornos del ciclo de la urea suponen hasta el 60% de las hiperamoniernias graves neonatales. La base de los trastornos de este ciclo deriva en el déficit de una de sus enzimas. El déficit de la enzima ornitina transcarbamilasa es el más frecuente. Su pronóstico dependerá del grado de deficiencia enzimàtica, la edad, la precocidad del diagnóstico e inicio del tratamiento. Presentamos el caso de un adolescente que, a partir de un cuadro de parálisis facial periférica tratado con prednisona, presentó agravamiento de su estado general y falleció a los pocos días. Las cifras elevadas de amoniaco en sangre hicieron sospechar tardíamente de una alteración congénita del ciclo de la urea, que fue confirmada por su estudio genético post mortem. Se estudiaron los familiares y se asesoró a los afectos y portadores. Reflexionamos sobre la importancia de los programas de cribado neonatal y la posibilidad de aplicarlos en la detección de los errores congénitos del metabolismo.
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
Subject(s)
Humans , Male , Child , Adolescent , Pediatrics , Neonatal Screening , Ornithine Carbamoyltransferase Deficiency Disease , Urea Cycle Disorders, InbornABSTRACT
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
Subject(s)
Ornithine Carbamoyltransferase Deficiency Disease , Adolescent , Fatal Outcome , Humans , Male , Ornithine Carbamoyltransferase Deficiency Disease/diagnosisABSTRACT
Disorders of urea cycle account for up to 60
of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
