Vasculitis associated with familial Mediterranean fever: a study on 16 french adult cases Article Swipe
Salam Abbara
,
Olivier Fain
,
David Saadoun
,
Claude Bachmeyer
,
A Mekininan
,
Katia Stankovic Stojanovic
,
Luc Mouthon
,
Laurent Gilardin
,
Serge Amselem
,
Gilles Grateau
,
Sophie Georgin‐Lavialle
·
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1186/1546-0096-13-s1-p128
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1186/1546-0096-13-s1-p128
Results 16 patients (12H, 4F) with a median age of 41 years [2961] were included. Patients were Sefarad Jews (n=9), Turkish (n=2) and Arabic (n=5). Seven of them had a familial history of FMF, none had a familial history of auto-immune diseases. Their FMF was symptomatic during childhood except for two patients; most of them had colchicine. They displayed various type of vasculitis such as: HSP (n=7), PAN (n=4; two of them with viral B hepatitis), Granulomatosis with Polyangitis (GPA) (n=1), Microscopic Polyangitis (MPA) (n=1) and unclassified (n=3). Their vasculitis was diagnosed at a median age of 32 [5-43]. For one patient the diagnosis of vasculitis was made before the diagnosis of FMF. Patients with PAN mostly displayed weight loss, fever, myalgia, abdominal pain, arthralgia, with evidence of vasculitis of small or medium-sized blood vessels on a skin biopsy (n=3) or renal arterial aneurysms on an angiography (n=1). MEFV sequencing showed: homozygous M694V/M694V mutations (n=2), homozygous E148Q/E148Q mutation (n=1) and double heterozygous M694V/V726A mutation (n=1). The patient with GPA displayed an intra-alveolar hemorrhage with ORL involvement. He had a M694V/ M694V mutation and was the only patient which FMF was diagnosed after the vasculitis. All of 5 patients with HSP displayed a M694V/M694V MEFV mutation. The patient with MPA displayed erythema nodosum, arthro-myalgia, neuropathy, constrictive pericarditis, and cutaneous vasculitis. He displayed a M694V/E148Q MEFV mutation.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/1546-0096-13-s1-p128
- https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/1546-0096-13-S1-P128
- OA Status
- gold
- Cited By
- 3
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2268736281
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2268736281Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1186/1546-0096-13-s1-p128Digital Object Identifier
- Title
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Vasculitis associated with familial Mediterranean fever: a study on 16 french adult casesWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2015Year of publication
- Publication date
-
2015-09-28Full publication date if available
- Authors
-
Salam Abbara, Olivier Fain, David Saadoun, Claude Bachmeyer, A Mekininan, Katia Stankovic Stojanovic, Luc Mouthon, Laurent Gilardin, Serge Amselem, Gilles Grateau, Sophie Georgin‐LavialleList of authors in order
- Landing page
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https://doi.org/10.1186/1546-0096-13-s1-p128Publisher landing page
- PDF URL
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https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/1546-0096-13-S1-P128Direct link to full text PDF
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://ped-rheum.biomedcentral.com/counter/pdf/10.1186/1546-0096-13-S1-P128Direct OA link when available
- Concepts
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Medicine, MEFV, Familial Mediterranean fever, myalgia, Vasculitis, Internal medicine, Gastroenterology, Rheumatology, Abdominal pain, Dermatology, Pathology, Gene mutation, Mutation, Gene, Disease, Biochemistry, ChemistryTop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
- Citations by year (recent)
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2021: 1, 2018: 1, 2017: 1Per-year citation counts (last 5 years)
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.arterial | 142 |
| abstract_inverted_index.erythema | 210 |
| abstract_inverted_index.evidence | 126 |
| abstract_inverted_index.familial | 30, 37 |
| abstract_inverted_index.mutation | 157, 163, 181 |
| abstract_inverted_index.myalgia, | 121 |
| abstract_inverted_index.nodosum, | 211 |
| abstract_inverted_index.patients | 2, 197 |
| abstract_inverted_index.abdominal | 122 |
| abstract_inverted_index.aneurysms | 143 |
| abstract_inverted_index.childhood | 47 |
| abstract_inverted_index.cutaneous | 217 |
| abstract_inverted_index.diagnosed | 91, 190 |
| abstract_inverted_index.diagnosis | 103, 110 |
| abstract_inverted_index.diseases. | 41 |
| abstract_inverted_index.displayed | 58, 117, 169, 200, 209, 220 |
| abstract_inverted_index.included. | 14 |
| abstract_inverted_index.mutation. | 204, 224 |
| abstract_inverted_index.mutations | 153 |
| abstract_inverted_index.patients; | 51 |
| abstract_inverted_index.hemorrhage | 172 |
| abstract_inverted_index.homozygous | 151, 155 |
| abstract_inverted_index.sequencing | 149 |
| abstract_inverted_index.vasculitis | 62, 89, 105, 128 |
| abstract_inverted_index.E148Q/E148Q | 156 |
| abstract_inverted_index.M694V/E148Q | 222 |
| abstract_inverted_index.M694V/M694V | 152, 202 |
| abstract_inverted_index.M694V/V726A | 162 |
| abstract_inverted_index.Microscopic | 81 |
| abstract_inverted_index.Polyangitis | 78, 82 |
| abstract_inverted_index.angiography | 146 |
| abstract_inverted_index.arthralgia, | 124 |
| abstract_inverted_index.auto-immune | 40 |
| abstract_inverted_index.colchicine. | 56 |
| abstract_inverted_index.hepatitis), | 75 |
| abstract_inverted_index.neuropathy, | 213 |
| abstract_inverted_index.symptomatic | 45 |
| abstract_inverted_index.vasculitis. | 193, 218 |
| abstract_inverted_index.constrictive | 214 |
| abstract_inverted_index.heterozygous | 161 |
| abstract_inverted_index.involvement. | 175 |
| abstract_inverted_index.medium-sized | 132 |
| abstract_inverted_index.unclassified | 86 |
| abstract_inverted_index.pericarditis, | 215 |
| abstract_inverted_index.Granulomatosis | 76 |
| abstract_inverted_index.intra-alveolar | 171 |
| abstract_inverted_index.arthro-myalgia, | 212 |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 11 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7799999713897705 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.64252896 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |