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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The incorporation of 64Cu into cultured fibroblasts from 7 boys with Menkes' steely hair disease and from 9 controls was examined. The median 20 h incorporation was 74-4 ng 64Cu/mg protein for the patients and 26-1 ng 64Cu/mg protein for the controls (P less than 0.01). Thus, the defect in copper metabolism in the disease was expressed in cultured cells. The method was applied to amniotic fluid cell-cultures of 2 pregnancies at risk and to amniotic fluid cell-cultures with a male karyotype of 8 normal pregnancies. The median 20h 64Cu incorporation into the normal cell-cultures was 19.2 ng 64Cu/mg protein, into the cell-culture from one pregnancy at risk was 48-6 ng 64Cu/mg protein, and from the other, 12-5 ng 64Cu/mg protein. The first case was aborted and the copper distribution in the fetus was found to be abnormal--consistent with Menkes' disease. The second case at risk was born in May, 1975, and no signs of Menkes' disease have developed. These cases demonstrate that prenatal diagnosis of Menkes' steely hair disease might be feasible.
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PMID:Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. 5 1

The evolution of neurophysiological features including the electroencephalogram (EEG), electroretinogram (ERG), and visual evoked potentials (VEP) is reported in eight cases of Menkes' "kinky hair" disease. All EEGs were severely abnormal, with some characteristic features seen from 3-5 months of age, after the onset of clinical symptomatology. From the age of 5 months, the EEGs resembled hypsarrhythmic patterns. The ERG was not affected in any patient, but the VEP was either of low amplitude or completely absent in all but one of the six patients tested. All eight patients received copper injections without substantial effect on either the clinical course of the disease or the EEG features.
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PMID:Menkes' disease: neurophysiological aspects. 9 72

The experimental technique was based on the injection of a 0.5 % Janus green B solution into the embryonic pharynx through a branchial slit, at the age of three days. This method of chemical endocauterization of the pharynx was elaborated by B. Menkes. Our experimental method produces a necrotizing intoxication of an extracardiac region (the region of the branchial arches) and cardiovascular malformations similar to those observed in human pathology have been obtained. This experimental group consisted of chick foetuses of 9 -- 11 days; their interventricular septation is normally fulfilled at the end of the 8th day of incubation. 342 foetuses with or without cardiovascular malformations have been examined by electrocardiography and 678 electrocardiographs have been recorded. Normal electrocardiographs of chick embryos were similar to those recorded in mammal and human embryos. The probability of a cardiovascular malformation could be assumed by direct electrocardiography in a proportion of 80 -- 85% while indirect electrocardiography could allow the diagnosis in a proportion of only 60 %. There are no pathognomonic electrocardiographs for a certain type of malformation, but the grouping of certain alteration of the electrical recording can suggest the existence of a cardiovascular malformation. Electrocardiographs recorded with experimentally malformed hearts recall the patterns of human foetal pathology.
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PMID:Electrocardiographical investigations of normal and malformed embryo and foetus hearts in humans, mammals, and avians. Electrocardiographical investigations of the experimentally malformed heart of the chick foetus. 12 88

Pathological ocular study of a boy presenting Menkes disease and died at age 5 months showed rarefaction of outer nuclear layer and degenerative visual cells' outer segments in macular area.
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PMID:[Macular dystrophy in menkes disease. Histological ocular study (author's transl)]. 15 6

The authors describes a case of Menkes' disease, sex-linked recessive hereditary disease characterized by early progressive psychomotor deterioration, failure to gain weight, seizures, hypothermie and characteristic Kinky hair (Pilitorti). This boy is a blind child, unable to fix and follow light. Fundus examination shows optic nerve atrophy with tortuosity of the retinal blood vessels. The case is discussed in the light of similar and others reports in the literature. The disease is believed to be cause by a generalized copper deficiency in the body by defect in copper intestinal absorbtion. The pathologic changes in the retina are similar to those seen in the brain which shows diffuse neuronal degeneration lose of nerve filers and optic atrophy. Retinal changes should be reversible by short term systemic copper administration.
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PMID:[Menkes' disease: apropos of a recent case]. 15 8

The pathological changes and structural anomalies induced by 6-aminonicotinamide (6-AN) in the developing eye were studied in rats (Wistar and hooded randombred strain). The substance was administered in aqueous solution intraperitoneally (4 mg/kg on day 9--10 of pregnancy: 5 mg/kg on day 11 of pregnancy; 8 mg/kg on day 13--17 of pregnancy) and in physiological saline intraamniotically (0.01 ml of a 1% solution in physiological saline on day 15 of pregnancy). Embryos and foetuses from experimental series and from untreated control series were macro- and microscopically examined on day 10--20 of pregnancy. Control foetuses from mothers injected with distilled water on day 9--17 of pregnancy were examined on day 20 of pregnancy. The pathological changes and structural anomalies detected at successive developmental stages are presented. They reveal an obvious phase specificity and attest that the same substance may act through both of the main teratogenic pathways hypothetically put forward by Menkes et al. (1970). Based upon the present findings (and some previous results obtained in experiments with bisazo dyes) a working hypothesis is tentatively presented, as to the possible determination of the uni- or/and bilateral distribution of chemically induced developmental defects. In connection with some reversible or transitory pathological changes the role of recovery in teratogenesis is pointed out.
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PMID:6-Aminonicotinamide-induced eye defects in rats. 15 98

A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.
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PMID:Menkes kinky hair syndrome: Is it a treatable disorder? 18 59

In an ultrastructural study of human liver biopsy specimens we found that peroxisomes are regularly present in normal human hepatocytes. Their relationships with the endoplasmic reticulum observed in other species and in other organs were also demonstrable in this material. Some normal peroxisomes were found to display marginal plates or peripheral crystalline inclusions which were present in pathologic specimens as well. In certain inherited metabolic disorders (Menkes' steely hair disease, analbuminemia) the volume of the individual peroxisomes appeared to be considerably reduced. But most pathologic processes affecting hepatocytes seem to produce any or several of the following: increased volume or numbers per cell, changes of shapes, alterations of the consistency of the matrix, appearance of dense numbers per cell, changes of shapes, alterations of the consistency of the matrix, appearance of dense inclusions, or clustering of peroxisomes in some portions of the cytoplasm. Some of these abnormalities are reversible based on observations in three patients with Wilson's disease treated with D-penicillamine. The mean +/- standard deviation of diameters of peroxisomes in four normal subjects was 0.618 +/- 0.143 mum. Significant reductions or increases in mean diameters of peroxisomes were noted in all but two of the 16 pathologic specimens. There were other morphologic abnormalities present in the remaining two specimens. We conclude that various pathologic processes involving the hepatocytic cytoplasm exert different effects on peroxisomes. Although no specific pattern of morphologic alteration emerged from this exploratory study, a possible involvement of peroxisomes ought to be considered whenever metabolic or pathologic processes affect the liver.
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PMID:The peroxisomes of human hepatocytes. 1239 46

Visualization of the neuron in its entirety through the use of the rapid Golgi method has permitted detection of several pathobiological features of neurons that are intimately associated with profound mental retardation in infants and children. In cases of unclassified mental retardation, dendrites and particularly dendritic spines exhibit severe developmental abnormalities. Dendritic spines, the postsynaptic components of axospinodendritic synapses, may be absent or abnormally long and thin in retardates. Evidence is presented that some cases of progressive neurobehavioral deterioration in infancy and early childhood may be due to progressive degeneration of dendritic spine systems (dendritic spine "dysgenesis"). Golgi and electron microscopic studies of neurons in human and feline ganglioside storage diseases indicate that ganglioside accumulation in cortical neurons initiates several complex alterations in neuronal geometry and morphology. Small and medium pyramidal cells form massive structural compartments (meganeurites) that frequently give rise to secondary neurites and other embryonic growth processes. Meganeurites may possess spines and spine-synapses. Other cells such as large pyramidal neurons may exhibit many somatic spines, whereas intrinsic cells of the cortex (and caudate) are unaffected morphologically by ganglioside accumulation. It is suggested that neuronal geometry distortion and aberrant synaptogenesis are important factors in the onset of neuronal dysfunction in ganglioside storage disorders. These studies also point to an important role of gangliosides in neurite formation in immature mammalian cortical neurons. Perisomatic processes and somatic spines are normal morphological components of the cell body of Purkinje cells through the 28th fetal week of human gestation. By 36 weeks the Purkinje cell somas exhibit a smooth surface contour. Prominent polydendritic processes, perisomatic protuberances, and somatic spines are detectable by Golgi methods applied to Purkinje cells in Menkes' disease and Down's syndrome long after these somatic components should normally disappear. Thus Purkinje cell soma membrane differentiation is a particularly sensitive process that can provide information on mechanisms of site-specific membrane regulation.
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PMID:Pathobiology of cortical neurons in metabolic and unclassified amentias. 21 50

Brindled mutant mouse (MObr) is clinically closely similar to kinky hair syndrome (KHS) in humans. Hemizygous males (MObr/Y) of this mutant usually cannot survive beyond the 15th -- 16th postnatal day. However, some were found to survive into the adult life. Extensive neuronal degeneration in the cerebral cortex was a prominent neuropathological feature of MObr/Y (Yajima and Suzuki, 1979a). In the long surviving one, however, such neuronal degeneration gradually disappeared and cortical neuronal loss and axonal degeneration of the underlying white matter were the predominant neuropathological features. which are closely similar to those of KHS, in particular in those patients who survive for more than 1 year. On the basis of our observations on the brain of MObr/Y mice, we hypothesized the possible chronological events on the development of neuropathological lesions in KHS in humans.
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PMID:Neuronal degeneration in the brain of the brindled mouse. I. Chromological studies on the long-surviving group. 22 21


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