RESUMO
The authors analyse current aspects of toxicomania in young persons. Addiction to licit or illicit drugs usually originates in the conjunction of the use of a substance and a personality crisis, in a propitious socio-cultural context. Except in cases of overdoses which are the ultimate emergency, the follow-up care of adolescent drug addicts does not require specialist therapy. It is the business of adult counsellors to listen to these adolescents and take full responsibility for them.
Assuntos
Psicologia do Adolescente , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adolescente , Cannabis , Etanol , Humanos , Pediatria , Meio Social , Solventes , Transtornos Relacionados ao Uso de Substâncias/etiologiaRESUMO
The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes.
Assuntos
Anormalidades Múltiplas/genética , Acrocefalossindactilia/genética , Encéfalo/anormalidades , Lipodistrofia/genética , Músculos Abdominais/anormalidades , Criptorquidismo/genética , Humanos , Hipospadia/genética , Lactente , Recém-Nascido , Masculino , SíndromeRESUMO
An infant with disseminated cutaneous osteomatosis as described by Worret and Burgdorf is described. The diagnosis was confirmed by histology which distinguished the bone formation from sub-cutaneous calcification. The prognosis of disseminated cutaneous osteomatosis is guarded because there may be extensive skin involvement and because of the absence of effective treatment.
Assuntos
Osteoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Feminino , Humanos , Lactente , Osteoma/patologia , Neoplasias Cutâneas/patologiaRESUMO
We report an investigation on the iron status of 209 hospitalized 3-month--2-year-old infants over a 6-month period. Hematological parameters and infant feeding practice were determined: a total of 105 infants (50.2%) were found to be iron-depleted, with (24.8%) or without (25.4%) anemia. The mode of lactation appeared to be the main determining factor in iron deficiency, as shown by the fact that during the first months, breast feeding and consumption of an iron-fortified milk formula were 50% less frequent and of shorter duration in infants with iron deficiency than in normal infants. Incorrect diet was also more frequent in iron-deficient infants. It is concluded that iron deficiency in infants could be prevented by better informing mothers in order to encourage breast-feeding and develop the use of an iron-fortified milk formula until the infant reaches the age of one year.
Assuntos
Anemia Hipocrômica/epidemiologia , Fenômenos Fisiológicos da Nutrição do Lactente/fisiologia , Deficiências de Ferro , Anemia Hipocrômica/metabolismo , Feminino , Hospitais Pediátricos , Humanos , Incidência , Lactente , Masculino , Necessidades Nutricionais , Estudos Retrospectivos , Fatores SocioeconômicosRESUMO
A neonate with Down's syndrome presented with partial blast infiltration that spontaneously regressed without relapse at age 6 months. Sequential cytogenetic studies of cells in blood and bone marrow initially showed presence of a clone with 46 chromosomes and reciprocal translocation of chromosomes 5 and 7. This clone and the hematologic abnormality later disappeared simultaneously. Two explanations may be suggested: a defect in the maturation of normal blasts due to abnormal environment in the bone marrow, or an intrinsic abnormality of hematopoietic cells. The case reported would favor the second hypothesis.
Assuntos
Síndrome de Down/sangue , Reação Leucemoide/genética , Cromossomos Humanos 4-5 , Cromossomos Humanos 6-12 e X , Células Clonais , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Cariotipagem , Translocação GenéticaRESUMO
The authors report a new case of congenital deficiency of fibrin stabilizing factor. The defect is transmitted as an autosomal recessive trait. The earliest symptom is umbilical bleeding when the cord separates. The diagnosis is confirmed by the rapid dispersion of the clot in urea 5 M or monochloroacetic acid.
Assuntos
Deficiência do Fator XIII/congênito , Deficiência do Fator XIII/diagnóstico , Humanos , Recém-Nascido , MasculinoRESUMO
The authors describe a case of cystosarcoma phylloides of the breast in an 11-year-old girl. The clinical examination showed a voluminous painless tumour which had grown rapidly. Mammography revealed a dense imaging of this tumour with a 6 cm diameter. Surgical removal preserved the healthy tissues and gave a good morphological result. The histologic examination confirmed a double component phylloid tumour with a predominant mesenchymatous part.
Assuntos
Neoplasias da Mama/cirurgia , Tumor Filoide/cirurgia , Neoplasias da Mama/patologia , Criança , Feminino , Humanos , Tumor Filoide/patologiaRESUMO
One case of Lnger's type mesomelic dwarfism is reported in a 7-day old newborn. Height retardation was severe and concerned essentially the middle segment of limbs. Cubituses and fibulae were hypoplastic. The inferior mandible was intact. No biological change was found. The genetic transmission could be either recessive autosomal (parents double-first cousins), or dominant autosomal with pleiotropic expression (the mother, and an aunt on the father's side presenting with dyschondrosteosis).
Assuntos
Nanismo/genética , Adolescente , Adulto , Nanismo/diagnóstico por imagem , Feminino , Genes Dominantes , Genes Recessivos , Humanos , Recém-Nascido , Masculino , Linhagem , RadiografiaRESUMO
Antenatal diagnosis in a woman previously delivered of a child with arginino-succinic aciduria, due to deficiency of arginino-succinase (EC 4.3.2.1.), showed the fetus to be unaffected. This was confirmed at birth.