RESUMEN
AIMS: To determine the most likely diagnoses when infants first present with an apparent life threatening event (ALTE). METHODS: Medline (1966-2002), Embase (1980-2002), and Cinahl (1982-2002) were searched. Primary authors and content experts were contacted to identify further studies. Bibliographies from studies, reviews, and textbooks were searched. Foreign language studies were translated. Articles were included if the ALTE was clearly defined and if the evaluation recorded was from the initial contact. Case reports and studies focusing on single conditions or non-clinical data were excluded. RESULTS: From an initial 2912 papers, eight studies involving 643 infants (aged 0-13 months) were included. All studies were non-randomised and methodological quality varied. All diagnoses were made after evaluation in hospital but investigation protocols varied widely. There were 728 diagnoses assigned overall. Some infants had multiple diagnoses. The most common diagnoses were gastro-oesophageal reflux (n = 227), seizure (n = 83), lower respiratory tract infection (n = 58), and "unknown" (n = 169). Five deaths were noted in total. CONCLUSIONS: There is a wide range of diagnoses reported after evaluation of an ALTE. Differing management protocols contributed to variations in the frequency of the diagnoses. The development and validation of an evidence based management plan may contribute to the care of this common condition.
Asunto(s)
Enfermedad Crítica , Urgencias Médicas , Servicio de Urgencia en Hospital , Reflujo Gastroesofágico/diagnóstico , Humanos , Lactante , Infecciones del Sistema Respiratorio/diagnóstico , Convulsiones/diagnósticoRESUMEN
To ascertain if significant hypoglycaemic episodes can be avoided or managed more appropriately in children with insulin dependent diabetes mellitus (IDDM). A retrospective chart audit was performed on all children with IDDM admitted with hypoglycaemia between 1.1.90 and 31.8.97. Of the 21 children studied, 9 presented with seizures and 1 with coma. In 9 the hypoglycaemia was unexplained. Only 6 parents used glucagon. Five children were readmitted during the review with a further hypoglycaemic episode. Four of these had their first admission significantly sooner after diagnosis than those without recurrent episodes. Hypoglycaemic episodes are often unexplained and are unlikely to be completely avoidable. Improved support services during intercurrent illness may reduce the frequency of some hypoglycaemic episodes and increased use of glucagon at home may reduce the severity of some. Children who have their first hypoglycaemic episode within one year of diagnosis are at risk of having recurrent episodes.
Asunto(s)
Glucemia/análisis , Diabetes Mellitus Tipo 1/complicaciones , Hipoglucemia/etiología , Hipoglucemia/prevención & control , Educación del Paciente como Asunto/métodos , Adolescente , Distribución por Edad , Niño , Preescolar , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Humanos , Hipoglucemia/epidemiología , Incidencia , Insulina/uso terapéutico , Irlanda/epidemiología , Masculino , Monitoreo Fisiológico , Estudios Retrospectivos , Factores de Riesgo , Prevención Secundaria , Distribución por SexoRESUMEN
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.
Asunto(s)
Ataxia de Friedreich/genética , Heterocigoto , Expansión de Repetición de Trinucleótido/genética , Edad de Inicio , Niño , Cromosomas Humanos Par 9/genética , Femenino , Genes Recesivos/genética , Humanos , Linaje , Mutación Puntual/genéticaRESUMEN
This report describes the processes involved in compiling a set of guidelines, locally developed by informal consensus, for the management of common paediatric medical problems in a teaching hospital.