Pycnodysostosis: some aspects concerning kinetics of calcium metabolism and bone pathology
A 23-year-old white woman suffering pycnodysostosis whose parents and five siblings were unaffected was investigated. Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteol...
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| Veröffentlicht in: | The American journal of the medical sciences 1976-03, Vol.271 (2), p.215-220 |
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| container_title | The American journal of the medical sciences |
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| creator | Cabrejas, M L Fromm, G A Roca, J F Mendez, M A Bur, G E Ferreyra, M E Demarchi, C Schurman, L |
| description | A 23-year-old white woman suffering pycnodysostosis whose parents and five siblings were unaffected was investigated. Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteolysis, showed a fibrous dysplasia-like picture. Kinetic studies of calcium metabolism revealed that exchangeable pool size, turnover, and bone accretion rate were all decreased. Intestinal calcium absorption was investigated simultaneously by a double isotope technique and by deconvolution of the plasmatic specific activity curve of 47Ca given per os. Results obtained by both methods coincided in that values were found to be similarly increased. Endogenous fecal calcium was also determined and revealed a similar increase. Some physiopathological implications of these findings are discussed. |
| doi_str_mv | 10.1097/00000441-197603000-00011 |
| format | Article |
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Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteolysis, showed a fibrous dysplasia-like picture. Kinetic studies of calcium metabolism revealed that exchangeable pool size, turnover, and bone accretion rate were all decreased. Intestinal calcium absorption was investigated simultaneously by a double isotope technique and by deconvolution of the plasmatic specific activity curve of 47Ca given per os. Results obtained by both methods coincided in that values were found to be similarly increased. Endogenous fecal calcium was also determined and revealed a similar increase. 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Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteolysis, showed a fibrous dysplasia-like picture. Kinetic studies of calcium metabolism revealed that exchangeable pool size, turnover, and bone accretion rate were all decreased. Intestinal calcium absorption was investigated simultaneously by a double isotope technique and by deconvolution of the plasmatic specific activity curve of 47Ca given per os. Results obtained by both methods coincided in that values were found to be similarly increased. Endogenous fecal calcium was also determined and revealed a similar increase. Some physiopathological implications of these findings are discussed.</description><subject>Adult</subject><subject>Bone and Bones - metabolism</subject><subject>Bone and Bones - pathology</subject><subject>Calcium - metabolism</subject><subject>Female</subject><subject>Humans</subject><subject>Intestinal Absorption</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Osteopetrosis - metabolism</subject><subject>Osteosclerosis - genetics</subject><subject>Osteosclerosis - metabolism</subject><subject>Osteosclerosis - pathology</subject><issn>0002-9629</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1976</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkMtOwzAQRb0AlVL4BCSv2AX8SGKbHap4SZVg0RUbyxk7JZDEIZMs8veklMdIo6sZ3TsjHUIoZ1ecGXXN9pWmPOFG5UzOQzI350dkOatITC7MCTlFfJ-3QnO5IAsu8lwbsSSvLxO00U8YcYhY4Q3F2ATqsAswIIXYQujbqt3Rj6oNQwVIY0nB1VCNDW3C4IpYV9hQ13paxDbQzg1vsY676Ywcl67GcP6jK7K9v9uuH5PN88PT-naTgORsSFIoPRhhfOZAMgM89VKnhQKtIFPOOJ4rb3SeMS2gDEr5AkKqMh9ywQXIFbk8nO36-DkGHGxTIYS6dm2II1ot5czEsNmoD0boI2IfStv1VeP6yXJm9yTtL0n7R9J-k5yjFz8_xqIJ_j94wCi_AFxRcjc</recordid><startdate>197603</startdate><enddate>197603</enddate><creator>Cabrejas, M L</creator><creator>Fromm, G A</creator><creator>Roca, J F</creator><creator>Mendez, M A</creator><creator>Bur, G E</creator><creator>Ferreyra, M E</creator><creator>Demarchi, C</creator><creator>Schurman, L</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>197603</creationdate><title>Pycnodysostosis: some aspects concerning kinetics of calcium metabolism and bone pathology</title><author>Cabrejas, M L ; Fromm, G A ; Roca, J F ; Mendez, M A ; Bur, G E ; Ferreyra, M E ; Demarchi, C ; Schurman, L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c310t-4cfdc929d5ac309c14d384b7c87c57a9a167d9865082cfe77dbce475de6212c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1976</creationdate><topic>Adult</topic><topic>Bone and Bones - metabolism</topic><topic>Bone and Bones - pathology</topic><topic>Calcium - metabolism</topic><topic>Female</topic><topic>Humans</topic><topic>Intestinal Absorption</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Osteopetrosis - metabolism</topic><topic>Osteosclerosis - genetics</topic><topic>Osteosclerosis - metabolism</topic><topic>Osteosclerosis - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cabrejas, M L</creatorcontrib><creatorcontrib>Fromm, G A</creatorcontrib><creatorcontrib>Roca, J F</creatorcontrib><creatorcontrib>Mendez, M A</creatorcontrib><creatorcontrib>Bur, G E</creatorcontrib><creatorcontrib>Ferreyra, M E</creatorcontrib><creatorcontrib>Demarchi, C</creatorcontrib><creatorcontrib>Schurman, L</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The American journal of the medical sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cabrejas, M L</au><au>Fromm, G A</au><au>Roca, J F</au><au>Mendez, M A</au><au>Bur, G E</au><au>Ferreyra, M E</au><au>Demarchi, C</au><au>Schurman, L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pycnodysostosis: some aspects concerning kinetics of calcium metabolism and bone pathology</atitle><jtitle>The American journal of the medical sciences</jtitle><addtitle>Am J Med Sci</addtitle><date>1976-03</date><risdate>1976</risdate><volume>271</volume><issue>2</issue><spage>215</spage><epage>220</epage><pages>215-220</pages><issn>0002-9629</issn><abstract>A 23-year-old white woman suffering pycnodysostosis whose parents and five siblings were unaffected was investigated. 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| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Adult Bone and Bones - metabolism Bone and Bones - pathology Calcium - metabolism Female Humans Intestinal Absorption Karyotyping Male Osteopetrosis - metabolism Osteosclerosis - genetics Osteosclerosis - metabolism Osteosclerosis - pathology |
| title | Pycnodysostosis: some aspects concerning kinetics of calcium metabolism and bone pathology |
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