RESUMEN
BACKGROUND: Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and with schizophrenia. METHODS AND RESULTS: Based on routine diagnostic testing of approximately 8200 samples using array comparative genomic hybridisation, we identified 20 individuals (14 children and six parents in 12 families) with microdeletions of 15q13.3. Phenotypes in the children included developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems. Both parents were available in seven families, and the deletion was de novo in one, inherited from an apparently normal parent in four, and inherited from a parent with learning disability and bipolar disorder in two families. Of the 14 children, six in five families were adopted, and DNA was available for only one of these 10 biological parents; the deletion was very likely inherited for one of these families with two affected children. Among the unavailable parents, two mothers were described as having mental retardation, another mother as having "mental illness", and one father as having schizophrenia. We hypothesise that some of the unavailable parents have the deletion. CONCLUSIONS: The occurrence of increased adoption, frequent autism, bipolar disorder, and lack of penetrance are noteworthy findings in individuals with deletion 15q13.3. A high rate of adoption may be related to the presence of the deletion in biological parents. Unconfirmed histories of antisocial behaviours in unavailable biological parents raise the concern that future research may show that deletion 15q13.3 is associated with such behaviours.
Asunto(s)
Trastorno Autístico/genética , Deleción Cromosómica , Cromosomas Humanos Par 15/genética , Discapacidad Intelectual/genética , Trastornos Mentales/genética , Penetrancia , Adulto , Niño , Hibridación Genómica Comparativa , Femenino , Humanos , Masculino , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Convulsiones/genética , SíndromeRESUMEN
BACKGROUND: Topical antimicrobials have been considered for treatment of secondarily infected wounds because of the potential for reduced risk of adverse effects and greater patient convenience. We compared mupirocin cream with oral cephalexin in the treatment of wounds such as small lacerations, abrasions, or sutured wounds. METHODS: In 2 identical randomized double-blind studies, 706 patients with secondarily infected wounds (small lacerations, abrasions, or sutured wounds) received either mupirocin cream topically 3 times daily or cephalexin orally 4 times daily for 10 days. RESULTS: Clinical success at follow-up was equivalent in the two groups: 95.1% and 95.3% in the mupirocin cream and the cephalexin groups, respectively (95% confidence interval [CI], -4.0% to 3.6%; P = .89). The intention-to-treat success rate was 83% in both groups. Bacteriologic success at follow-up was also comparable: 96.9% in the mupirocin cream and 98.9% in the cephalexin groups (95% CI, -6.0% to 2.0%; P = .22). The occurrence of adverse experiences related to study treatment was similar for the 2 groups, with fewer patients in the mupirocin cream group reporting diarrhea (1.1% vs 2.3% for cephalexin). CONCLUSIONS: Mupirocin cream applied topically 3 times daily is as effective as oral cephalexin given 4 times daily for the treatment of secondarily infected wounds and was well tolerated.
Asunto(s)
Antibacterianos/uso terapéutico , Cefalexina/uso terapéutico , Cefalosporinas/uso terapéutico , Mupirocina/uso terapéutico , Infección de Heridas/tratamiento farmacológico , Administración Cutánea , Administración Oral , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Método Doble Ciego , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Aceptación de la Atención de SaludAsunto(s)
Combinación Amoxicilina-Clavulanato de Potasio/administración & dosificación , Quimioterapia Combinada/administración & dosificación , Otitis Media/tratamiento farmacológico , Infecciones Neumocócicas/tratamiento farmacológico , Streptococcus pneumoniae/efectos de los fármacos , Enfermedad Aguda , Combinación Amoxicilina-Clavulanato de Potasio/efectos adversos , Combinación Amoxicilina-Clavulanato de Potasio/uso terapéutico , Niño , Preescolar , Diarrea/inducido químicamente , Método Doble Ciego , Farmacorresistencia Microbiana , Quimioterapia Combinada/efectos adversos , Quimioterapia Combinada/uso terapéutico , Femenino , Gastroenteritis/inducido químicamente , Humanos , Lactante , Masculino , Otitis Media/microbiologíaRESUMEN
Ninety children with acute epiglottitis were admitted from 1971 - 1977. Lateral extended neck radiograph was found to be a quick, safe and reliable way to establish the diagnosis. Out of 79, 77 (97%) had blood cultures yielding Hemophilus influenzae type b. Immediate institution of airway and antibiotics were the mainstay of treatment. All patients in the series survived. For short-term airway management, as in acute epiglottitis, nasotracheal intubation under general anesthesia was found to be the airway of choice.