RESUMO
The value of a 24-hour distress diary, previously validated against a voice-activated audiotape record, was investigated in 30 infants with colic and 30 control infants. The infants with colic had significantly more distress behavior (300.0 minutes vs 102.5 minutes; p < 0.001), although overlap of duration of distress was noted. On the basis of a clinical definition of colic--total distress lasting 180 minutes in a 24-hour period--the diary had a sensitivity of 77% and a specificity of 87%. The sensitivity of the chart was confirmed in a separate study of another 90 infants with colic.
Assuntos
Comportamento Infantil , Cólica/diagnóstico , Choro , Feminino , Humanos , Lactente , Masculino , Prontuários Médicos , PaisRESUMO
The clinical, pathologic, and biochemical features of rhizomelic chondrodysplasia punctata are described in two patients. Although both patients had clinical and radiologic similarities, one patient survived for only 13 days and the other is still alive at 8 years. The most prominent pathologic feature was the marked degenerative change in the chondrocytes from resting cartilage. Fibroblast alkyldihydroxyacetone phosphate synthase activity was markedly reduced in both patients (approximately 10% of control mean); in contrast, dihydroxyacetone phosphate acyltransferase activity was only moderately reduced (50% of control mean). Alkyl and alk-l-enyl ether (plasmalogens) levels were very low in brain and liver. The accumulation of phytanic acid observed in plasma or liver was paralleled by a reduced ability of the patients' fibroblasts to oxidize phytanic acid. Our data indicate that the genetic defect in rhizomelic chondrodysplasia punctata results in abnormalities in two apparently unrelated pathways (i.e., phytanic acid oxidation and ether lipid biosynthesis.
Assuntos
Condrodisplasia Punctata/patologia , Encéfalo/metabolismo , Encéfalo/patologia , Cartilagem/metabolismo , Cartilagem/patologia , Condrodisplasia Punctata/metabolismo , Fibroblastos/metabolismo , Humanos , Recém-Nascido , Metabolismo dos Lipídeos , Fígado/metabolismo , Fígado/patologia , MasculinoRESUMO
A 12-year-old boy with recurrent skin ulceration, chronic generalized lymphedema, and mild mental retardation was found to excrete massive amounts of dipeptides, most (but not all) of which had proline or hydroxyproline as the carboxyl terminal residue. Glycylproline predominated. Prolidase deficiency was demonstrated in red blood cells and in fibroblastic cells. Prolidase activity was present in continuous lymphoid cell cultures at the same low level observed in control cells.
Assuntos
Aminoácidos/urina , Dipeptidases/deficiência , Dipeptídeos/urina , Linfedema/metabolismo , Úlcera Cutânea/metabolismo , Criança , Doença Crônica , Eritrócitos/enzimologia , Fibroblastos/enzimologia , Humanos , Leucócitos/enzimologia , Linfedema/enzimologia , Masculino , Recidiva , Úlcera Cutânea/enzimologiaRESUMO
A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual appearance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients.