{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T22:42:26Z","timestamp":1720219346775},"reference-count":34,"publisher":"Centre for Evaluation in Education and Science (CEON\/CEES)","issue":"0","license":[{"start":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T00:00:00Z","timestamp":1557532800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,5,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n<jats:sec id=\"j_jomb-2019-0020_s_007\">\n<jats:title>Background<\/jats:title>\n<jats:p>In a rare Gaucher disease, reduced activity of lysosomal \u03b2-glucocerebrosidase incompletely blocks glucosphingolipid catabolism. Accumulation of the unhydrolyzed substrate glucosylceramide within lysosomes results in progressive, multisystem Gaucher disease, classified into three types. Both parkinsonism and peripheral neuropathy are observed in cases of putative non-neuronopathic type 1 disease. In the current study we investigated whether the peripheral neural response in type 1 Gaucher disease patients, with no neural manifestations is conditioned by the influence of sex hormones.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"j_jomb-2019-0020_s_008\">\n<jats:title>Methods<\/jats:title>\n<jats:p>The catalytic activity of \u03b2-glucocerebrosidase in peripheral blood leukocytes was determined spectrofluorometrically. Direct sequencing of the <jats:italic>GBA1<\/jats:italic> gene was performed. Somatosensory evoked potentials were recorded after electrical stimulation of the median nerve of both arms. Stimuli of 0.2 ms duration at a frequency of 5 Hz were used. Sex hormones were determined by radioimmunoassay using a gamma scintillation counter.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"j_jomb-2019-0020_s_009\">\n<jats:title>Results<\/jats:title>\n<jats:p>Analysis of the somatosensory evoked potentials revealed significant differences in peak latencies on periphery between men and women in both control and type 1 Gaucher disease groups. Analysis by gender showed significant associations between latencies and sex hormones only in female patients: negative correlation between oestradiol concentration and N9 peak latency, and a strong negative correlation of testosterone levels with all peak latencies on the periphery (N9-N13).<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"j_jomb-2019-0020_s_010\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>A relationship between testosterone concentrations and the latencies of potentials evoked on peripheral nerves exists only in females with type 1 Gaucher disease. We point out sexual dimorphism in the development of this entity.<\/jats:p><\/jats:sec>","DOI":"10.2478\/jomb-2019-0020","type":"journal-article","created":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T10:43:23Z","timestamp":1557744203000},"source":"Crossref","is-referenced-by-count":0,"title":["Peripheral neural response and sex hormones in type 1 gaucher disease"],"prefix":"10.5937","volume":"0","author":[{"given":"Milan B.","family":"Lako\u010devi\u0107","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirjana M.","family":"Plati\u0161a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zorica R.","family":"\u0160umarac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nada D.","family":"Suvajd\u017ei\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lana \u0110.","family":"Ma\u010dukanovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milan S.","family":"Petakov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3964","reference":[{"key":"ref61","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1177\/08830738050200020801","article-title":"Study of multimodal evoked potentials in patients with type 1 Gaucher's disease","volume":"20","year":"2005","journal-title":"J Child Neurol"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"9519","DOI":"10.1523\/JNEUROSCI.1212-08.2008","article-title":"Growth of white matter in the adolescent brain: role of testosterone and androgen receptor","volume":"28","year":"2008","journal-title":"J Neurosci"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"20423","DOI":"10.1074\/jbc.R110.134452","article-title":"Common and uncommon pathogenic cascades in lysosomal storage diseases","volume":"285","year":"2010","journal-title":"J Biol Chem"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1016\/j.neuroimage.2007.03.053","article-title":"Sexual dimorphism of brain developmental trajectories during childhood and adolescence","volume":"36","year":"2007","journal-title":"Neuroimage"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"279","DOI":"10.2478\/jomb-2018-0002","article-title":"Uncertainty of measurement in laboratory medicine","volume":"37","year":"2018","journal-title":"J Med Biochem"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.1093\/brain\/awq198","article-title":"Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study","volume":"133","year":"2010","journal-title":"Brain"},{"key":"ref31","first-page":"307\u201312","article-title":"Immunoglobulin heavy chain gene rearrangements in patients with gaucher disease","volume":"37","year":"2018","journal-title":"J Med Biochem"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.steroids.2015.03.014","article-title":"Neuroactive steroids and the peripheral nervous system: An update","volume":"103","year":"2015","journal-title":"Steroids"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/S0950-3536(97)80032-7","article-title":"Gaucher's disease: molecular, genetic and enzymo-logical aspects","volume":"10","year":"1997","journal-title":"Baillieres Clin Haematol"},{"key":"ref141","first-page":"287","volume-title":"Diagnosis and treatment of injuries and disorders of the brachial plexus, 2nd ed","year":"2001"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","article-title":"Occurrence of Parkinson's syndrome in type I Gaucher disease","volume":"89","year":"1996","journal-title":"QJM"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.yhbeh.2009.04.008","article-title":"Sex differences in neuroactive steroid levels in the nervous system of diabetic and non-diabetic rats","volume":"57","year":"2010","journal-title":"Horm Behav"},{"key":"ref181","first-page":"221","article-title":"Metabolism of glucocerebrosides","volume":"18","year":"1965","journal-title":"II. 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