RESUMO
Immunohistochemical studies with antisera against four peroxisomal enzymes, catalase and beta-oxidation enzymes (acyl-coenzyme A oxidase, bifunctional protein, and 3-ketoacyl-CoA thiolase), were performed on brain, liver, and kidney specimens from patients with peroxisomal disorders, as well as specimens from three control subjects, by using conventional paraffin-embedded autopsy material. The patients included eight with Zellweger syndrome and one with neonatal adrenoleukodystrophy. In the liver and kidney specimens from all patients, except one with Zellweger syndrome, diffuse immunostaining with all antisera in the cytoplasm of hepatocytes and renal tubular epithelium suggested an absence of peroxisomes but the presence of peroxisomal enzymes. Examination of brain specimens indicated a weak or negative reaction of neurons in the cerebral cortex and a weak reaction of glial cells in the white matter, which suggested maturational delay compared with control subjects. The delayed immunoreactive pattern of peroxisomal enzymes in Zellweger syndrome and neonatal adrenoleukodystrophy may be related to the significant neuropathologic features of polymicrogyria and dysmyelinogenesis. One patient with Zellweger syndrome had a unique finding of a positive granular catalase reaction and a negative reaction with antisera to 3-ketoacyl-coenzyme A thiolase, which suggested a diagnosis of pseudo-Zellweger syndrome. This study validates the application of these immunohistochemical methods to the study of peroxisomal enzymes. Use of these methods improves the accuracy of diagnosis of peroxisomal disorders.
Assuntos
Adrenoleucodistrofia/diagnóstico , Encéfalo/patologia , Rim/patologia , Fígado/patologia , Microcorpos/enzimologia , Síndrome de Zellweger/diagnóstico , Acetil-CoA C-Aciltransferase/análise , Acil-CoA Oxidase , Catalase/análise , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Neuroglia/patologia , Neurônios/patologia , Oxirredutases/análiseAssuntos
Morte Súbita do Lactente/patologia , Nervo Vago/patologia , Fatores Etários , Doenças dos Nervos Cranianos/complicações , Humanos , Lactente , Recém-Nascido , Fibras Nervosas/patologia , Fibras Nervosas Mielinizadas/patologia , Respiração , Morte Súbita do Lactente/etiologia , Nervo Vago/fisiopatologiaRESUMO
Nine anesthetized, artificially ventilated, term newborn beagle puppies were given phenylephrine hydrochloride intravenously while systemic arterial, carotid arterial, and jugular venous blood pressures, and carotid arterial blood flow were monitored. Systemic blood pressure rose within seconds from a mean of 53.68 +/- 1.10 mm Hg to a mean of 81.92 +/- 5.14 mm Hg. Hypertension was maintained for up to one hour in each animal. Four of the nine pups had intraventricular hemorrhages that were visible to gross inspection at autopsy, and seven of the nine pups had subependymal hemorrhages. The blood pressures produced in these animals were within the range of those seen in premature infants. Thus, moderate, rapidly induced systemic hypertension may be a cause of intraventricular hemorrhage in the premature human newborn infant.
Assuntos
Hemorragia Cerebral/etiologia , Hipertensão/complicações , Animais , Animais Recém-Nascidos , Velocidade do Fluxo Sanguíneo , Pressão Sanguínea , Hemorragia Cerebral/patologia , Hemorragia Cerebral/fisiopatologia , Ventrículos Cerebrais/patologia , Cães , Frequência Cardíaca , Hipertensão/induzido quimicamente , FenilefrinaRESUMO
Examination at 18 months post-term of 139 infants of birth weight less than or equal to 1,500 gm revealed 18 instances (13%) of persistent median nerve damage. All affected infants had received frequent percutaneous brachial artery punctures as neonates. Block sections of the cubital fossa done at autopsy on 12 randomly selected very low-birth-weight infants showed perineural hemorrhage, and Wallerian degeneration or traumatic neuroma of the median nerve in eight patients. It is recommended that brachial artery punctures be avoided whenever possible in the neonatal period.
Assuntos
Artéria Braquial , Nervo Mediano , Doenças do Sistema Nervoso Periférico/etiologia , Punções/efeitos adversos , Autopsia , Gasometria , Hemorragia/etiologia , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Nervo Mediano/patologia , Neuroma/etiologia , Neuroma/patologia , Neoplasias do Sistema Nervoso Periférico/etiologia , Neoplasias do Sistema Nervoso Periférico/patologia , Degeneração WallerianaRESUMO
Brain biopsies for neurodegenerative disease performed at The Hospital for Sick Children, Toronto, over a 12-year period (1964 to 1976) were reviewed. Of 64 biopsies, major histologic abnormalities with diagnostic or prognostic significance comprised 39% of the total cases, minor abnormalities represented 13%, and 48% appeared normal. The procedure failed to provide prognostic assistance in 41%. With the advent for newer diagnostic techniques (enzyme assays and muscle, skin, peripheral nerve, rectal, and appendix biopsies) for neurodegenerative disease in childhood, a much lower yield is noted (15 to 20%). Only two progressive degenerative childhood conditions remain in which cerebral tissue is necessary for diagnosis--Alexander disease and Canavan spongy degeneration.