Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry
Objective To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database. Study design Analysis of surgical data from 544 patients enrolled...
Gespeichert in:
| Veröffentlicht in: | The Journal of pediatrics 2009-06, Vol.154 (6), p.859-864.e3 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 864.e3 |
|---|---|
| container_issue | 6 |
| container_start_page | 859 |
| container_title | The Journal of pediatrics |
| container_volume | 154 |
| creator | Arn, Pamela, MD Wraith, J. Edmond, MB, ChB Underhill, Lisa, MS |
| description | Objective To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database. Study design Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie). Results Overall and by phenotype, ∼75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was |
| doi_str_mv | 10.1016/j.jpeds.2008.12.024 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67260902</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347608010974</els_id><sourcerecordid>67260902</sourcerecordid><originalsourceid>FETCH-LOGICAL-c442t-d2741a222ac1d7c8ecfeb06623279ec4124b325bf5ff5fbc159e70f9514574c13</originalsourceid><addsrcrecordid>eNqFklGL1DAUhYso7uzqLxAkL_rWepOm7VRQkMHVgV0cnPU5pOntTGqnGXNbl-6vN3UGBV-EQF6-cwhfThS94JBw4PmbNmmPWFMiAJYJFwkI-ShacCiLOF-m6eNoASBEnMoiv4guiVoAKCXA0-iCl4IXXKSL6H61116bAb190IN1PXMN245-Z43u2MY7g_XokZjt2SYA2A_E7u2wZ7ejcUfXTaSNCR22dmSJ3U1HZOu37Nr2te13xBrvDmzYI7vdbNmafcWdpcFPz6Inje4In5_vq-jb9ce71ef45sun9erDTWykFENci0JyLYTQhteFWaJpsII8F6koSjSSC1mlIquarAmnMjwrsYCmzLjMCml4ehW9PvUevfsxIg3qYMlg1-ke3UgqL0QOJYgApifQeEfksVFHbw_aT4qDmn2rVv32rWbfigsVfIfUy3P9WB2w_ps5Cw7AqzOgKRhtvO6NpT-c4HkKJS8D9-7EYZDx06JXZILsYN96NIOqnf3PQ97_kzed7edP_I4TUutG3wfPiisKAbWdpzEvA5YwL0amvwB43LT2</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>67260902</pqid></control><display><type>article</type><title>Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Arn, Pamela, MD ; Wraith, J. Edmond, MB, ChB ; Underhill, Lisa, MS</creator><creatorcontrib>Arn, Pamela, MD ; Wraith, J. Edmond, MB, ChB ; Underhill, Lisa, MS</creatorcontrib><description>Objective To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database. Study design Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie). Results Overall and by phenotype, ∼75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported ≥2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively. Conclusions Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2008.12.024</identifier><identifier>PMID: 19217123</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>Maryland Heights, MO: Mosby, Inc</publisher><subject>Adolescent ; Biological and medical sciences ; Carbohydrates (enzymatic deficiencies). Glycogenosis ; Child ; Errors of metabolism ; Female ; General aspects ; Humans ; Male ; Medical sciences ; Metabolic diseases ; Mucopolysaccharidosis I - classification ; Mucopolysaccharidosis I - complications ; Mucopolysaccharidosis I - diagnosis ; Pediatrics ; Phenotype ; Surgical Procedures, Operative - classification ; Surgical Procedures, Operative - statistics & numerical data ; Young Adult</subject><ispartof>The Journal of pediatrics, 2009-06, Vol.154 (6), p.859-864.e3</ispartof><rights>Mosby, Inc.</rights><rights>2009 Mosby, Inc.</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c442t-d2741a222ac1d7c8ecfeb06623279ec4124b325bf5ff5fbc159e70f9514574c13</citedby><cites>FETCH-LOGICAL-c442t-d2741a222ac1d7c8ecfeb06623279ec4124b325bf5ff5fbc159e70f9514574c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022347608010974$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21630919$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19217123$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Arn, Pamela, MD</creatorcontrib><creatorcontrib>Wraith, J. Edmond, MB, ChB</creatorcontrib><creatorcontrib>Underhill, Lisa, MS</creatorcontrib><title>Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Objective To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database. Study design Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie). Results Overall and by phenotype, ∼75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported ≥2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively. Conclusions Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Carbohydrates (enzymatic deficiencies). Glycogenosis</subject><subject>Child</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>General aspects</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mucopolysaccharidosis I - classification</subject><subject>Mucopolysaccharidosis I - complications</subject><subject>Mucopolysaccharidosis I - diagnosis</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Surgical Procedures, Operative - classification</subject><subject>Surgical Procedures, Operative - statistics & numerical data</subject><subject>Young Adult</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFklGL1DAUhYso7uzqLxAkL_rWepOm7VRQkMHVgV0cnPU5pOntTGqnGXNbl-6vN3UGBV-EQF6-cwhfThS94JBw4PmbNmmPWFMiAJYJFwkI-ShacCiLOF-m6eNoASBEnMoiv4guiVoAKCXA0-iCl4IXXKSL6H61116bAb190IN1PXMN245-Z43u2MY7g_XokZjt2SYA2A_E7u2wZ7ejcUfXTaSNCR22dmSJ3U1HZOu37Nr2te13xBrvDmzYI7vdbNmafcWdpcFPz6Inje4In5_vq-jb9ce71ef45sun9erDTWykFENci0JyLYTQhteFWaJpsII8F6koSjSSC1mlIquarAmnMjwrsYCmzLjMCml4ehW9PvUevfsxIg3qYMlg1-ke3UgqL0QOJYgApifQeEfksVFHbw_aT4qDmn2rVv32rWbfigsVfIfUy3P9WB2w_ps5Cw7AqzOgKRhtvO6NpT-c4HkKJS8D9-7EYZDx06JXZILsYN96NIOqnf3PQ97_kzed7edP_I4TUutG3wfPiisKAbWdpzEvA5YwL0amvwB43LT2</recordid><startdate>20090601</startdate><enddate>20090601</enddate><creator>Arn, Pamela, MD</creator><creator>Wraith, J. Edmond, MB, ChB</creator><creator>Underhill, Lisa, MS</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><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>20090601</creationdate><title>Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry</title><author>Arn, Pamela, MD ; Wraith, J. Edmond, MB, ChB ; Underhill, Lisa, MS</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c442t-d2741a222ac1d7c8ecfeb06623279ec4124b325bf5ff5fbc159e70f9514574c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Carbohydrates (enzymatic deficiencies). Glycogenosis</topic><topic>Child</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>General aspects</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mucopolysaccharidosis I - classification</topic><topic>Mucopolysaccharidosis I - complications</topic><topic>Mucopolysaccharidosis I - diagnosis</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Surgical Procedures, Operative - classification</topic><topic>Surgical Procedures, Operative - statistics & numerical data</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arn, Pamela, MD</creatorcontrib><creatorcontrib>Wraith, J. Edmond, MB, ChB</creatorcontrib><creatorcontrib>Underhill, Lisa, MS</creatorcontrib><collection>Pascal-Francis</collection><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 Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arn, Pamela, MD</au><au>Wraith, J. Edmond, MB, ChB</au><au>Underhill, Lisa, MS</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2009-06-01</date><risdate>2009</risdate><volume>154</volume><issue>6</issue><spage>859</spage><epage>864.e3</epage><pages>859-864.e3</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Objective To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database. Study design Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie). Results Overall and by phenotype, ∼75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported ≥2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively. Conclusions Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.</abstract><cop>Maryland Heights, MO</cop><pub>Mosby, Inc</pub><pmid>19217123</pmid><doi>10.1016/j.jpeds.2008.12.024</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-3476 |
| ispartof | The Journal of pediatrics, 2009-06, Vol.154 (6), p.859-864.e3 |
| issn | 0022-3476 1097-6833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67260902 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Child Errors of metabolism Female General aspects Humans Male Medical sciences Metabolic diseases Mucopolysaccharidosis I - classification Mucopolysaccharidosis I - complications Mucopolysaccharidosis I - diagnosis Pediatrics Phenotype Surgical Procedures, Operative - classification Surgical Procedures, Operative - statistics & numerical data Young Adult |
| title | Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-29T11%3A58%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Characterization%20of%20Surgical%20Procedures%20in%20Patients%20with%20Mucopolysaccharidosis%20Type%20I:%20Findings%20from%20the%20MPS%20I%20Registry&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Arn,%20Pamela,%20MD&rft.date=2009-06-01&rft.volume=154&rft.issue=6&rft.spage=859&rft.epage=864.e3&rft.pages=859-864.e3&rft.issn=0022-3476&rft.eissn=1097-6833&rft.coden=JOPDAB&rft_id=info:doi/10.1016/j.jpeds.2008.12.024&rft_dat=%3Cproquest_cross%3E67260902%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=67260902&rft_id=info:pmid/19217123&rft_els_id=S0022347608010974&rfr_iscdi=true |