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Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 ( LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscle and leukocytes, western blot analysis of leukocytes and cardiac muscle, flow cytometry, and DNA sequencing were performed. Muscle biopsy revealed autophagic vacuolar myopathy and lack of immunohistochemically detectable LAMP-2. Diagnosis of Danon disease was confirmed by western blot analysis of myocardial tissue and peripheral blood sample of the patient showing deficiency of LAMP-2 in myocardium and leukocytes. Moreover, absence of LAMP-2 in lymphocytes, monocytes and granulocytes was shown by flow cytometric analysis. Genetic analysis of the LAMP2 gene revealed a novel 1-bp deletion at position 179 (c.179delC) at the 3′ end of exon 2, resulting in a frameshift with a premature stop codon. [ABSTRACT FROM AUTHOR]

A 43-year-old female with adrenoleukodystrophy (ALD) is described, who developed spastic tetraparesis, suffered grand mal seizures, and became stuporous and demented during the last 5 years of her life. Computed tomography revealed symmetrical hypodense lesions in the peritrigonal regions. Adrenal insufficiency was not evident except for skin pigmentation. The ultrastructure of a rectal biopsy specimen showed inclusions with lamellae and interspersed clefts in macrophages of the submucosal layer. At autopsy, the adrenals were found to contain large foam cells filled with similar inclusions. The brain cortex and the spinal cord were histologically normal. However, cerebral white matter exhibited widespread demyelination which spared only the arcuate fibres. In regions of less severe demyelination scattered inflammatory cells were seen. On electron microscopy, aggregates of typical paired leaflets with distinct intermediate lines were demonstrated in perivascular macrophages. Histochemical study showed these cells to contain free as well as esterified cholesterol. Gas chromatographic analysis of very long chain fatty acids (VLFA) from the demyelinated cerebral white matter showed a marked increase of C26:0 fatty acid in cholesterol esters and above-normal values for C24:0 and C24:1 in gangliosides. It is suggested that the condition was a heterozygote form of X-linked ALD. Patients with neurodegenerative symptoms with or without adrenal insufficiency can easily be screened for X-linked ALD by VLFA analysis in blood or cultured fibroblasts. [ABSTRACT FROM AUTHOR]

The immunomodulatory effect of Mycobacterium tuberculosis-derived lipoarabinomiinnan (LAM) on mitogen/antigen-induced expression of mRNAs for a number of cytokines in human monocytic cell line Mono-Mac-6 and in T cell line Jurkat was investigated. Interestingly. LAM exhibited a down-regulatory effect on the accumulation of mRNAs for IL-2, IL-3. granulocyte-macrophage colony-stimulating factor (GM-CSF), and IL-2 receptor alpha (IL-2Rα) in T cells co-stimulated with phytohaemagglutinin-P (PHA) and 4β-phorbol-12-myristyl-13-acetate (PMA). In human Mono-Mac-6 cells. LAM has a weak inhibitory effect on the lipopolysacharide (LPS)-induced mRNA accumulation for IL-lβ. a slight stimulatory effect on in mRNAs accumulation for IL-8 and tumour necrosis factor-alpha (TNE-α). but clearly no effect on mRNA accumulation for intercellular adhesion molecule-1 (ICAM-1). These findings imply that LAM may contribute to the immnunologic defects associated with a number of mycobacterial infections by modulating these mediators. [ABSTRACT FROM AUTHOR]

Ganglioside-antibodies produced subsequent to Campylobacter jejuni infection may play a role in the pathogenesis of the neurological disorder Guillain-Barré syndrome (GBS). Since lipopolysaccharides (LPS) of certain C. jejuni serotypes associated with GBS (O:2, O:4, O:19) exhibit structural mimicry of gangliosides in their core oligosaccharides, we investigated antibody and ligand cross-reactivities between gangliosides and LPS of these C. jejuni serotypes. GM1-antibody reacted with O:19 LPS reflecting GM1 mimicry by the O:19 core oligosaccharide. On the other hand, asialoGM1-antibody bound to O:2 and O:19 LPS indicating a shared epitope not dependent on ganglioside mimicry. Serum IgA from GBS patients after C. jejuni infection reacted with gangliosides, predominantly GM1, and LPS of all three serotypes. Cholera toxin (GM1 ligand) recognized O:4 and O:19 LPS, whereas peanut agglutinin (Galβ1-3GalNAc ligand) recognized LPS of all three serotypes, thereby confirming structural mimicry. These results suggest that LPS from certain C. jejuni strains may function as cross-reactive antigens for anti-ganglioside B cells. [ABSTRACT FROM PUBLISHER]

Ganglioside and DNA levels were estimated in the striatum of rats 10 days and 6 weeks after lesioning by intrastriatal injection of kainic acid. There was a moderate, 21-24% decrease of the ganglioside concentration per unit protein on the side of the lesion, which can be ascribed to the loss of the intrinsic striatal neurons following the injection of kainic acid. On the other hand, there was a 131 and 60% increase of DNA per unit protein in the kainate injected side 10 days and 6 weeks after the lesions, respectively; these changes apparently reflected the gliotic reaction brought about by the neurotoxin. Qualitatively similar findings - a decrease of ganglioside and an increase of DNA levels per unit protein - were also found in the brain of patients with Huntington's disease; however, as compared with the corresponding control material, the decrease of the ganglioside concentration was more pronounced in the striatum of Huntington's disease (by 38% in the caudate nucleus and by 46% in the putamen) than in the kainate lesioned rat striatum. This difference could be due to the different proportions of the intrinsic and extrinsic neuronal plasma membranes in the striatum of the two species; however, the possibility of a more generalized affection of neuronal plasma membranes in Huntington's disease may also be envisaged. [ABSTRACT FROM AUTHOR]

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1. The occurrence and distribution of catecholamines in the ocular tissue of the calf has been investigated by a fluorimetric method. 2. In the lens, in the vitreous humour and in the retina (without the pigment-epithelium) no significant amounts of noradrenaline have been detected. In the chorioideal layer, isolated together with the retinal pigment-epithelium, noradrenaline was found in concentrations from 0.01 to 0.15 μg/g wet tissue. The noradrenaline concentration in the iris was in the range of 0.19-0.66 μg/g wet tissue. 3. The adrenaline concentration, as estimated in one sample of iris tissue, was as low as 0.05 μg/g. 4. Another fluorescent catechol compound was found in the iris as well as in the chorioideal layer (isolated together with the retinal pigment-epithelium). 5. This catechol compound was found to be 3.4-dihydroxyphenylalanine (dopa), as identified by twodimensional paper chromatography, separation on ion-exchange and AlO columns, colour reactions, fluorescent behaviour and by enzymatic decarboxylation to dopamine. 6. The dopa concentration in these tissues was in the range of 1.06 to 4.34 μg/g wet tissue, or even higher, as might be concluded from the experimental data. 7. The occurrence of dopa in the ocular tissue might possibly be connected with the metabolism of melanin. [ABSTRACT FROM AUTHOR]

The urinary excretion of epinephrine, norepinephrine metanephrine and normetanephrine was investigated in rats with and without pretreatment with iproniacide and i.p. administration of epinephrine, norepinephrine, metanephrine and normetanephrine. The following results could be obtained: In normal rats no detectable urinary excretion of metanephrine (MN) and normetanephrine (NMN) was found (below 15-20 μg/kg/24 hrs). In rats pretreated with iproniacide no MN but 46 μg/kg/24 hrs NMN was excreted in the urine. The i.p. administration of 400 μg/kg epinephrine or 800 μg/kg MN lead concordantly to an urinary output of MN with a yield of 11% of the given dose. Pretreatment with iproniacide increased the MN excretion following the administration of epinephrine and MN to 29% and beside caused a significant rise in the urinary NMN output. Following the i.p. administration of 400 μg/kg norepinephrine 7% and after the i.p. injection of 800 μg/kg NMN 13% were recovered as NMN in untreated animals and 11% and 19% in rats pretreated with iproniacide. There was a linear positive correlation between the amount of i.p. given MN and the urinary output of NMN within a dose range of 400-1600 μg/kg MN in rats pretreated with iproniacide, indicating a competitive displacement of NMN from specific tissue stores by MN. No such increased NMN urinary output could be detected following the i.p. administration of adrenalone and noradrealone. [ABSTRACT FROM AUTHOR]

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Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)