RESUMEN
Behavioural sleep problems are very common in children and are concerns for many parents. This review discusses normal sleep physiology and sleep development and focuses on common behavioural sleep problems in childhood, including behavioural insomnia of childhood, parasomnias and sleep-related movement disorders, highlighting their clinical features and management. Behavioural insomnia of childhood is characterised by learned difficulties in falling asleep and/or staying asleep. Management includes establishing bedtime routines and behavioural techniques. Parasomnias include confusional arousals, sleepwalking, sleep terrors and nightmares, and these usually resolve with time. Management includes parental reassurance and behavioural interventions such as scheduled awakening. With regards to sleep enuresis, management includes behavioural modifications, enuresis alarm and desmopressin. Sleep-related movement disorders include sleep-related bruxism and sleep-related rhythmic movements, of which body rocking is the most common. Early identification and management of behavioural sleep problems may prevent their negative impact on children as well as their families.
RESUMEN
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.
Asunto(s)
Proteínas de Ciclo Celular/genética , Microtia Congénita/diagnóstico , Microtia Congénita/genética , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Micrognatismo/diagnóstico , Micrognatismo/genética , Rótula/anomalías , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Malformaciones Anorrectales/genética , Malformaciones Anorrectales/fisiopatología , Craneosinostosis/genética , Craneosinostosis/fisiopatología , Femenino , Trastornos del Crecimiento/congénito , Humanos , Mutación , Fenotipo , Enfermedades Raras/genética , Enfermedades Raras/fisiopatología , Secuenciación del ExomaAsunto(s)
Síndrome Mucocutáneo Linfonodular/diagnóstico , Síndrome de Stevens-Johnson/diagnóstico , Administración Oral , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Azitromicina/administración & dosificación , Azitromicina/uso terapéutico , Preescolar , Conjuntivitis/etiología , Tos/etiología , Diagnóstico Diferencial , Fiebre/etiología , Humanos , Masculino , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Síndrome Mucocutáneo Linfonodular/patología , Mucositis/etiología , Mycoplasma pneumoniae/aislamiento & purificación , Síndrome de Stevens-Johnson/complicaciones , Síndrome de Stevens-Johnson/tratamiento farmacológico , Síndrome de Stevens-Johnson/patologíaRESUMEN
Identity (ID) badges and lanyards worn by pediatric health care workers (HCWs) have been shown to be potential vectors of nosocomial bacterial infections. This cross-sectional study determined the contamination of ID badges and lanyards worn by pediatric HCWs with common respiratory and gastrointestinal viruses. The results showed that ID badges and lanyards are not significantly contaminated with common respiratory or gastrointestinal viruses and are unlikely to be a significant vector for nosocomial infection.