RESUMEN
We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific DNA probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.
Asunto(s)
Cromosomas Humanos Par 5 , Anomalías Craneofaciales/genética , Discapacidad Intelectual/genética , Anomalías del Sistema Respiratorio/genética , Trisomía , Centrómero/genética , Mapeo Cromosómico , Pintura Cromosómica , Síndrome del Maullido del Gato/genética , Humanos , Hibridación Fluorescente in Situ/métodos , Lactante , Cariotipificación , Masculino , Desempeño Psicomotor , Infecciones del Sistema Respiratorio/etiologíaRESUMEN
A 5-year-old girl presented with a clinical picture of rapidly progressing acute meningococcal sepsis. A routine bedside abdominal ultrasound examination which was done daily showed on the 2nd and 3rd hospital day massive right adrenal hemorrhage with extension into the retroperitoneal fat tissue and intraperitoneal space. The left adrenal gland remained unchanged.
Asunto(s)
Enfermedades de las Glándulas Suprarrenales/diagnóstico por imagen , Hemorragia/diagnóstico por imagen , Síndrome de Waterhouse-Friderichsen/diagnóstico por imagen , Preescolar , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Meningitis Meningocócica/diagnóstico por imagen , Choque Séptico/diagnóstico por imagen , UltrasonografíaRESUMEN
A 10-year-old boy with a unilateral septic cavernous sinus thrombosis complicating infection of the ethmoidal and maxillary sinuses is described. The causative agents identified were Eikenella corrodens and Staphylococcus aureus. The disease was cured without any sequelae.
Asunto(s)
Seno Cavernoso , Eikenella corrodens , Sinusitis del Etmoides/complicaciones , Infecciones por Bacterias Gramnegativas/complicaciones , Sinusitis Maxilar/complicaciones , Trombosis de los Senos Intracraneales/etiología , Infecciones Estafilocócicas/complicaciones , Encéfalo/diagnóstico por imagen , Seno Cavernoso/diagnóstico por imagen , Niño , Sinusitis del Etmoides/diagnóstico por imagen , Humanos , Masculino , Sinusitis Maxilar/diagnóstico por imagen , Trombosis de los Senos Intracraneales/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
d-Amphetamine and amitriptyline (AT) were administered daily to female rats from day 7 of pregnancy until birth of the litters. Changes in the concentration of the biogenic amines, some of their metabolites, GABA, and the activities of glutamate decarboxylase, acetylcholinesterase (AChE), and choline acetyltransferase were determined in the whole brain of the offspring. The offspring of the amphetamine-treated rats showed a marked increase in serotonin concentration and that of its metabolite on postnatal day 1. Changes in the concentration of GABA were apparent on days 15 and 21 and were inversely correlated with changes in the activity of the synthesizing enzyme: Choline acetyltransferase and AChE activities were also increased at this time. Changes in neurotransmitter metabolism were not so evident in the offspring of rats treated with AT. The locomotor activity of the 8-, 15-, and 21-day offspring was also assessed. The offspring of the amphetamine-treated rats showed enhanced locomotor activity initially, but the activity decreased relative to the age-matched controls in the 21-day group. Offspring from the AT-treated group showed reduced locomotor activity.