{"id":"https://openalex.org/W2018484969","doi":"https://doi.org/10.2147/ijgm.s65560","title":"Kearns\u2013Sayre syndrome: a case series of 35 adults and children","display_name":"Kearns\u2013Sayre syndrome: a case series of 35 adults and children","publication_year":2014,"publication_date":"2014-07-01","ids":{"openalex":"https://openalex.org/W2018484969","doi":"https://doi.org/10.2147/ijgm.s65560","mag":"2018484969","pmid":"https://pubmed.ncbi.nlm.nih.gov/25061332","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4086664"},"language":"en","primary_location":{"id":"doi:10.2147/ijgm.s65560","doi":"https://doi.org/10.2147/ijgm.s65560","is_oa":true,"landing_page_url":"https://doi.org/10.2147/ijgm.s65560","pdf_url":"https://www.dovepress.com/getfile.php?fileID=20686","source":{"id":"https://openalex.org/S123199335","display_name":"International Journal of General Medicine","issn_l":"1178-7074","issn":["1178-7074"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of General Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.dovepress.com/getfile.php?fileID=20686","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080920326","display_name":"Christopher M. Wittich","orcid":"https://orcid.org/0000-0003-1371-5139","observed_orcids":["https://orcid.org/0000-0003-1371-5139"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Christopher Wittich","raw_affiliation_strings":["Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087335603","display_name":"Sherezade Khambatta","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sherezade Khambatta","raw_affiliation_strings":["Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113115341","display_name":"Douglas L. Nguyen","orcid":"https://orcid.org/0009-0001-9211-3533","observed_orcids":["https://orcid.org/0009-0001-9211-3533"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Douglas Nguyen","raw_affiliation_strings":["Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089071297","display_name":"Thomas J. Beckman","orcid":"https://orcid.org/0000-0002-4343-3936","observed_orcids":["https://orcid.org/0000-0002-4343-3936"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas Beckman","raw_affiliation_strings":["Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5080920326"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":{"value":2836,"currency":"USD","value_usd":2836},"apc_paid":{"value":2836,"currency":"USD","value_usd":2836},"fwci":2.5336,"has_fulltext":true,"cited_by_count":92,"citation_normalized_percentile":{"value":0.90619479,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"7","issue":null,"first_page":"325","last_page":"325"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9442999958992004,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9442999958992004,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.030799999833106995,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.0034000000450760126,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kearns-sayre-syndrome","display_name":"Kearns-Sayre syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.9800000190734863},{"id":"https://openalex.org/keywords/ophthalmoplegia","display_name":"ophthalmoplegia","score":0.7039999961853027},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.746999979019165},{"id":"https://openalex.org/keywords/syncope","display_name":"syncope","score":0.796999990940094},{"id":"https://openalex.org/keywords/cardiac-conduction-disorders","display_name":"cardiac conduction disorders","score":0.8299999833106995},{"id":"https://openalex.org/keywords/cognitive-decline","display_name":"cognitive decline","score":0.7680000066757202},{"id":"https://openalex.org/keywords/physical-disability","display_name":"physical disability","score":0.9269999861717224},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5720000267028809},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.33899998664855957}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9314157366752625},{"id":"https://openalex.org/C2780854726","wikidata":"https://www.wikidata.org/wiki/Q2605012","display_name":"Kearns\u2013Sayre syndrome","level":4,"score":0.744194746017456},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6976897716522217},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.5283461809158325},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5276309847831726},{"id":"https://openalex.org/C195910791","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Medical record","level":2,"score":0.4929942786693573},{"id":"https://openalex.org/C2776661526","wikidata":"https://www.wikidata.org/wiki/Q1361515","display_name":"Heart block","level":3,"score":0.46823543310165405},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.46520596742630005},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4448202848434448},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.43027499318122864},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.3951013684272766},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33982163667678833},{"id":"https://openalex.org/C2780040984","wikidata":"https://www.wikidata.org/wiki/Q79785","display_name":"Electrocardiography","level":2,"score":0.27444252371788025},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.2147/ijgm.s65560","doi":"https://doi.org/10.2147/ijgm.s65560","is_oa":true,"landing_page_url":"https://doi.org/10.2147/ijgm.s65560","pdf_url":"https://www.dovepress.com/getfile.php?fileID=20686","source":{"id":"https://openalex.org/S123199335","display_name":"International Journal of General Medicine","issn_l":"1178-7074","issn":["1178-7074"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of General Medicine","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3077061","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4086664","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:25061332","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25061332","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of general medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4086664","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4086664/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Gen Med","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:9f98ac2702b54198bc940dbb83606a4b","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/9f98ac2702b54198bc940dbb83606a4b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"International Journal of General Medicine, Vol 2014, Iss default, Pp 325-332 (2014)","raw_type":"article"},{"id":"pmh:oai:dovepress.com/17454","doi":null,"is_oa":true,"landing_page_url":"https://www.dovepress.com/kearnsndashsayre-syndrome-a-case-series-of-35-adults-and-children-peer-reviewed-article-IJGM","pdf_url":null,"source":{"id":"https://openalex.org/S4306401012","display_name":"Dove Medical Press (Taylor and Francis Group)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.2147/ijgm.s65560","doi":"https://doi.org/10.2147/ijgm.s65560","is_oa":true,"landing_page_url":"https://doi.org/10.2147/ijgm.s65560","pdf_url":"https://www.dovepress.com/getfile.php?fileID=20686","source":{"id":"https://openalex.org/S123199335","display_name":"International Journal of General Medicine","issn_l":"1178-7074","issn":["1178-7074"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320348","host_organization_name":"Dove Medical Press","host_organization_lineage":["https://openalex.org/P4310320348","https://openalex.org/P4310320547"],"host_organization_lineage_names":["Dove Medical Press","Taylor & Francis"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of General Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2018484969.pdf","grobid_xml":"https://content.openalex.org/works/W2018484969.grobid-xml"},"referenced_works_count":32,"referenced_works":["https://openalex.org/W32261578","https://openalex.org/W308464728","https://openalex.org/W1202483217","https://openalex.org/W1541322638","https://openalex.org/W1976680993","https://openalex.org/W1985690456","https://openalex.org/W1988155478","https://openalex.org/W1989208712","https://openalex.org/W1997313359","https://openalex.org/W2024734526","https://openalex.org/W2028856723","https://openalex.org/W2033455826","https://openalex.org/W2034104365","https://openalex.org/W2040417704","https://openalex.org/W2047448176","https://openalex.org/W2052796003","https://openalex.org/W2083178253","https://openalex.org/W2086369154","https://openalex.org/W2088828702","https://openalex.org/W2091562545","https://openalex.org/W2097424878","https://openalex.org/W2100704541","https://openalex.org/W2106292732","https://openalex.org/W2107449056","https://openalex.org/W2112165124","https://openalex.org/W2119340816","https://openalex.org/W2132603512","https://openalex.org/W2154313346","https://openalex.org/W2304765805","https://openalex.org/W2327432311","https://openalex.org/W3015143763","https://openalex.org/W4243977051"],"related_works":["https://openalex.org/W2945862915","https://openalex.org/W2918966937","https://openalex.org/W1991567266","https://openalex.org/W2110970429","https://openalex.org/W2413415076","https://openalex.org/W2387304620","https://openalex.org/W2028480056","https://openalex.org/W2143547871","https://openalex.org/W2412270523","https://openalex.org/W4319166081"],"abstract_inverted_index":{"BACKGROUND:":[0],"Kearns-Sayre":[1],"syndrome":[2],"(KSS)":[3],"is":[4],"a":[5,26,180],"rare":[6],"mitochondrial":[7],"cytopathy,":[8],"first":[9],"described":[10],"at":[11,95,106],"Mayo":[12,41],"Clinic":[13,42],"in":[14,25,66,115,129,191,216],"1958.":[15],"AIMS:":[16],"We":[17,37,167],"aimed":[18],"to":[19,173,185,208],"define":[20],"patient":[21,45],"and":[22,31,56,73,79,84,118,120,200,213],"disease":[23,82],"characteristics":[24],"large":[27],"group":[28],"of":[29,50,68,87,143,175],"adult":[30],"pediatric":[32],"patients":[33,51,60,127,176,197,217],"with":[34,52,62,149,155,177,198,218],"KSS.":[35,219],"METHODS:":[36],"retrospectively":[38],"searched":[39],"the":[40,48,85,103,130,169,186,206],"medical":[43],"index":[44],"database":[46],"for":[47],"records":[49],"KSS":[53,63,96,178],"between":[54,81],"1976":[55],"2009.":[57],"The":[58,90,141],"35":[59],"identified":[61,190],"were":[64,136],"analyzed":[65],"terms":[67],"demographic":[69],"characteristics,":[70],"presenting":[71],"signs":[72],"symptoms,":[74],"diagnostic":[75],"features,":[76,158],"clinical":[77,157],"evolution,":[78],"associations":[80],"features":[83],"development":[86,142],"disability.":[88],"RESULTS:":[89],"mean":[91,104],"(standard":[92],"[SD])":[93],"age":[94,105],"presentation":[97],"was":[98,108,123,146],"17":[99],"(10)":[100],"years,":[101],"but":[102,133,153],"diagnosis":[107],"26":[109],"(15)":[110],"years.":[111],"Ophthalmologic":[112],"symptoms":[113],"developed":[114],"all":[116,134],"patients,":[117],"neurologic":[119],"cardiac":[121,139,164,202],"involvement":[122],"common.":[124],"Only":[125],"four":[126],"(11%)":[128],"series":[131,172],"died,":[132],"deaths":[135],"from":[137,179],"sudden":[138,163,201],"events.":[140],"physical":[144],"disability":[145],"significantly":[147],"associated":[148],"cognitive":[150],"decline":[151],"(P=0.004)":[152],"not":[154],"other":[156],"such":[159],"as":[160],"sex":[161],"or":[162],"death.":[165,203],"CONCLUSION:":[166],"report":[168],"largest":[170],"case":[171],"date":[174],"single":[181],"institution.":[182],"In":[183],"addition":[184],"conduction":[187],"system":[188],"abnormalities":[189],"previous":[192],"series,":[193],"our":[194],"cohort":[195],"included":[196],"syncope":[199],"This":[204],"underscores":[205],"need":[207],"consider":[209],"formal":[210],"electrophysiologic":[211],"studies":[212],"prophylactic":[214],"defibrillators":[215]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
