{"id":"https://openalex.org/W7225328541","doi":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","title":"OP\u2013133 Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients","display_name":"OP\u2013133 Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients","publication_year":2026,"publication_date":"2026-10-01","ids":{"openalex":"https://openalex.org/W7225328541","doi":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131"},"language":"en","primary_location":{"id":"doi:10.1136/bmjpo-2026-epa-unepsa.131","doi":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","is_oa":true,"landing_page_url":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","pdf_url":"https://bmjpaedsopen.bmj.com/content/10/Suppl_5/A83.1.full.pdf","source":{"id":"https://openalex.org/S4306504555","display_name":"BMJ Paediatrics Open","issn_l":"2399-9772","issn":["2399-9772"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"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":"OP\u2013133\u2005Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients","raw_type":"proceedings-article"},"volume":null,"type":"conference-paper","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://bmjpaedsopen.bmj.com/content/10/Suppl_5/A83.1.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082868933","display_name":"\u015eeyma \u015e\u0130M\u015e\u0130RG\u0130L KARA","orcid":"https://orcid.org/0000-0001-6894-5631","observed_orcids":["https://orcid.org/0000-0001-6894-5631"]},"institutions":[{"id":"https://openalex.org/I76257594","display_name":"Sinop University","ror":"https://ror.org/004ah3r71","country_code":"TR","type":"education","lineage":["https://openalex.org/I76257594"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u015eeyma \u015eim\u015firgil Kara","raw_affiliation_strings":["Sinop University, Faculty of Health Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sinop University, Faculty of Health Sciences","institution_ids":["https://openalex.org/I76257594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160821063","display_name":"Elife \u00c7apan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104100","display_name":"Dr L\u00fctfi K\u0131rdar Kartal E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/01c2wzp81","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210104100"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Elife \u00c7apan","raw_affiliation_strings":["Kartal Dr. L\u00fctfi K\u0131rdar City Hospital, Department of Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kartal Dr. L\u00fctfi K\u0131rdar City Hospital, Department of Pediatrics","institution_ids":["https://openalex.org/I4210104100"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002326139","display_name":"Vafa Guliyeva","orcid":"https://orcid.org/0000-0002-1663-015X","observed_orcids":["https://orcid.org/0000-0002-1663-015X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vafa Guliyeva","raw_affiliation_strings":["Liv Bona Dea Hospital, Department of Pediatric Rheumatology, Baku, Azerbaijan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liv Bona Dea Hospital, Department of Pediatric Rheumatology, Baku, Azerbaijan","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"A83.1","last_page":"A83"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9994999766349792,"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/T11078","display_name":"Inflammasome and immune disorders","score":0.9994999766349792,"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10498","display_name":"Migraine and Headache Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.9940000176429749},{"id":"https://openalex.org/keywords/mefv-mutations","display_name":"MEFV mutations","score":0.8809999823570251},{"id":"https://openalex.org/keywords/m694v-mutation","display_name":"M694V mutation","score":0.9580000042915344},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9010000228881836},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.6140000224113464},{"id":"https://openalex.org/keywords/colchicine-response","display_name":"colchicine response","score":0.753000020980835},{"id":"https://openalex.org/keywords/attack-duration","display_name":"attack duration","score":0.5550000071525574},{"id":"https://openalex.org/keywords/abdominal-pain","display_name":"abdominal pain","score":0.824999988079071},{"id":"https://openalex.org/keywords/arthritis","display_name":"arthritis","score":0.878000020980835},{"id":"https://openalex.org/keywords/zygosity","display_name":"zygosity","score":0.6110000014305115},{"id":"https://openalex.org/keywords/amyloidosis","display_name":"amyloidosis","score":0.6209999918937683},{"id":"https://openalex.org/keywords/azerbaijan","display_name":"Azerbaijan","score":0.40700000524520874},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.7900000214576721},{"id":"https://openalex.org/keywords/treatment-response","display_name":"treatment response","score":0.4300000071525574},{"id":"https://openalex.org/keywords/clinical-severity","display_name":"clinical severity","score":0.38199999928474426}],"concepts":[{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.9750000238418579},{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.9646000266075134},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.839900016784668},{"id":"https://openalex.org/C2779951007","wikidata":"https://www.wikidata.org/wiki/Q816798","display_name":"Amyloidosis","level":2,"score":0.6654000282287598},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6312999725341797},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6090999841690063},{"id":"https://openalex.org/C2776636253","wikidata":"https://www.wikidata.org/wiki/Q326224","display_name":"Colchicine","level":2,"score":0.6017000079154968},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.5719000101089478},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.529699981212616},{"id":"https://openalex.org/C2777077863","wikidata":"https://www.wikidata.org/wiki/Q170990","display_name":"Arthritis","level":2,"score":0.5130000114440918},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.5055000185966492},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4846000075340271},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.38850000500679016},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.38100001215934753},{"id":"https://openalex.org/C198451711","wikidata":"https://www.wikidata.org/wiki/Q327657","display_name":"Rheumatology","level":2,"score":0.37869998812675476},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3467000126838684},{"id":"https://openalex.org/C2777575956","wikidata":"https://www.wikidata.org/wiki/Q187255","display_name":"Rheumatoid arthritis","level":2,"score":0.3260999917984009},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.31369999051094055},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.310699999332428},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2921999990940094},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.27639999985694885},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27230000495910645},{"id":"https://openalex.org/C2776820843","wikidata":"https://www.wikidata.org/wiki/Q581349","display_name":"Serositis","level":3,"score":0.2547999918460846},{"id":"https://openalex.org/C2776821229","wikidata":"https://www.wikidata.org/wiki/Q16965166","display_name":"Inflammatory arthritis","level":3,"score":0.2538999915122986}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1136/bmjpo-2026-epa-unepsa.131","doi":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","is_oa":true,"landing_page_url":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","pdf_url":"https://bmjpaedsopen.bmj.com/content/10/Suppl_5/A83.1.full.pdf","source":{"id":"https://openalex.org/S4306504555","display_name":"BMJ Paediatrics Open","issn_l":"2399-9772","issn":["2399-9772"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"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":"OP\u2013133\u2005Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients","raw_type":"proceedings-article"},{"id":"pmh:oai:doaj.org/article:08920a33001d4650b53aac93bb65b08f","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/08920a33001d4650b53aac93bb65b08f","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":"BMJ Paediatrics Open, Vol 10, Iss Suppl 5 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1136/bmjpo-2026-epa-unepsa.131","doi":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","is_oa":true,"landing_page_url":"https://doi.org/10.1136/bmjpo-2026-epa-unepsa.131","pdf_url":"https://bmjpaedsopen.bmj.com/content/10/Suppl_5/A83.1.full.pdf","source":{"id":"https://openalex.org/S4306504555","display_name":"BMJ Paediatrics Open","issn_l":"2399-9772","issn":["2399-9772"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"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":"OP\u2013133\u2005Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients","raw_type":"proceedings-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":false},"content_urls":{"pdf":"https://content.openalex.org/works/W7225328541.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2083371762","https://openalex.org/W4205943254","https://openalex.org/W2749874015","https://openalex.org/W4206552177","https://openalex.org/W7212401268","https://openalex.org/W7214530618","https://openalex.org/W4409436936","https://openalex.org/W3211909149","https://openalex.org/W4229691670","https://openalex.org/W4401895392"],"abstract_inverted_index":{"Aim":[0],"Familial":[1],"Mediterranean":[2],"Fever":[3],"(FMF)":[4],"is":[5],"an":[6,33],"autosomal":[7],"recessive":[8],"autoinflammatory":[9],"disease":[10],"caused":[11],"by":[12,311],"MEFV":[13,22,251,312],"gene":[14],"mutations.":[15],"The":[16,132,242],"relationship":[17],"between":[18,130],"clinical":[19,42,243,266,295],"severity":[20],"and":[21,44,61,66,84,96,114,125,145,149,168,176,183,203,224,229,245,275,297,308],"genotype":[23,55,252,284,313],"across":[24,53,215,248,282],"different":[25],"zygosity":[26],"states":[27],"of":[28,36,47,70,119,147,271,291],"the":[29,41,157,172,249,263,289],"M694V":[30,57,59,89,92,153,259],"mutation":[31,64,232],"remains":[32],"important":[34],"area":[35],"investigation.":[37],"This":[38],"study":[39],"compared":[40,129],"phenotype":[43],"treatment":[45,246,309],"response":[46,127,219,279],"pediatric":[48,75,301,316],"FMF":[49,107,302,317],"patients":[50,136,155,261],"from":[51],"Azerbaijan":[52,78],"three":[54,87,250],"groups:":[56,88],"homozygous,":[58,227],"heterozygous,":[60,228],"other":[62,97,192,230],"exon":[63,98,193,231],"carriers.Material":[65],"Method":[67],"A":[68],"total":[69],"350":[71,135],"children":[72],"followed":[73],"at":[74,115,142],"centers":[76],"in":[77,181,226,239,256,294,315],"(November":[79],"2023\u20132025)":[80],"were":[81,128,179,206],"retrospectively":[82],"analyzed":[83],"classified":[85],"into":[86],"homozygous":[90,154,260],"(n=59),":[91],"heterozygous/compound":[93],"heterozygous":[94,173],"(n=115),":[95],"mutations":[99,194],"(n=176).":[100],"Inclusion":[101],"criteria":[102],"required":[103],"age":[104,141],"\u226418":[105],"years,":[106,151],"diagnosis":[108,146],"per":[109],"Yalcinkaya-Ozen/Tel-Hashomer":[110],"or":[111],"Eurofever/PRINTO":[112],"criteria,":[113],"least":[116],"6":[117],"months":[118],"follow-up.":[120],"Symptom":[121],"profiles,":[122],"attack":[123],"duration,":[124],"colchicine":[126],"groups.Results":[131],"cohort":[133],"comprised":[134],"(60.45%":[137],"boys),":[138],"with":[139,185,191,268],"median":[140],"symptom":[143],"onset":[144],"4":[148],"7":[150],"respectively.":[152,234],"showed":[156],"most":[158,264],"severe":[159,265],"phenotype:":[160],"fever":[161,175],"(86.4%),":[162],"abdominal":[163,177,273],"pain":[164,178],"(78.0%),":[165],"arthritis":[166,186,204],"(25.4%),":[167],"arthralgia":[169,201],"(27.1%).":[170],"In":[171],"group,":[174],"observed":[180],"77.4%":[182],"67.8%,":[184],"dropping":[187],"to":[188],"10.4%.":[189],"Patients":[190],"had":[195],"a":[196],"milder":[197],"overall":[198],"phenotype,":[199,267],"though":[200],"(19.9%)":[202],"(18.2%)":[205],"comparatively":[207],"frequent.":[208],"Attack":[209],"duration":[210,328],"was":[211,220,237,280],"predominantly":[212],"1\u20133":[213],"days":[214],"all":[216,283],"groups.":[217,285],"Colchicine":[218,278],"excellent:":[221],"98.2%,":[222],"97.3%,":[223],"96.9%":[225],"groups,":[233],"No":[235],"amyloidosis":[236],"detected":[238],"any":[240],"group.":[241],"features":[244,307],"outcomes":[247,310],"groups":[253],"are":[254],"summarized":[255],"table":[257],"1.Conclusion":[258],"displayed":[262],"higher":[269],"rates":[270],"fever,":[272],"pain,":[274],"musculoskeletal":[276],"involvement.":[277],"excellent":[281],"These":[286],"findings":[287],"support":[288],"value":[290],"genotype-phenotype":[292],"correlations":[293],"decision-making":[296],"genetic":[298],"counseling":[299],"for":[300],"patients.Abstract":[303],"OP\u2013133":[304],"Table":[305],"1Clinical":[306],"group":[314],"patientsFeatureM694V":[318],"Homozygous":[319],"(n=59)M694V":[320],"Heterozygous":[321],"(n=115)Other":[322],"Exon":[323],"Mutations":[324],"(n=176)Fever86.4%77.4%74.4%Abdominal":[325],"pain78.0%67.8%62.5%Arthritis25.4%10.4%18.2%Arthralgia27.1%14.8%19.9%Chest":[326],"pain5.1%10.4%4.0%ELE6.8%1.7%2.3%Vomiting10.2%5.2%8.0%Attack":[327],"(most":[329],"common)1\u20133":[330],"days1\u20133":[331,332],"daysColchicine":[333],"response98.2%97.3%96.9%Amyloidosis0%0%0%":[334]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-11-06T00:00:00"}
