OR2-002 – The risk of FMF in MEFV heterozygotes

International audienc

3.5 The homing flight ring test: method for the assessment of sublethal doses of plant protection products on the honey bee in field conditions

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Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review

OBJECTIVE: To report efficacy and tolerance of interleukin 1 blockade in adult patients with mevalonate kinase deficiency (MKD). METHODS: We retrospectively collected data on 13 patients with MKD who had received anakinra (n = 10) and canakinumab (n = 7). RESULTS: Anakinra resulted in complete or partial remission in 3/10 and 5/10 patients, respectively, and no efficacy in 2/10, but a switch to canakinumab led to partial remission. Canakinumab resulted in complete or partial remission in 3/7 and 4/7 patients, respectively. CONCLUSION: These data support frequent partial responses, showing a better response with canakinumab. The genotype and therapeutic outcomes correlation should help in the personalization of treatment

Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process

BACKGROUND:Identification of modifier genes and characterization of their effects represent major challenges in human genetics. SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV. Indeed, the SAA1 alpha homozygous genotype and the p.Met694Val homozygous genotype at the MEFV locus are two main risk factors for RA. METHODOLOGY/PRINCIPAL FINDINGS:HERE, WE INVESTIGATED ARMENIAN FMF PATIENTS AND CONTROLS FROM TWO NEIGHBORING COUNTRIES: Armenia, where RA is frequent (24%), and Karabakh, where RA is rare (2.5%). Sequencing of MEFV revealed similar frequencies of p.Met694Val homozygotes in the two groups of patients. However, a major deficit of SAA1 alpha homozygotes was found among Karabakhian patients (4%) as compared to Armenian patients (24%) (p = 5.10(-5)). Most importantly, we observed deviations from Hardy-Weinberg equilibrium (HWE) in the two groups of patients, and unexpectedly, in opposite directions, whereas, in the two control populations, genotype distributions at this locus were similar and complied with (HWE). CONCLUSIONS/SIGNIFICANCE:The excess of SAA1alpha homozygotes among Armenian patients could be explained by the recruitment of patients with severe phenotypes. In contrast, a population-based study revealed that the deficit of alpha/alpha among Karabakhian patients would result from a negative selection against carriers of this genotype. This study, which provides new insights into the role of SAA1 in the pathophysiology of FMF, represents the first example of deviations from HWE and selection involving the modifier gene of a Mendelian disorder

Évaluation du savoir-faire en sémiologie clinique des étudiants en fin de deuxième cycle des études médicales

International audiencePurpose : Clinical examination skills are poorly evaluated by theoretical tests. We observed the clinical examination of real patients by 6th year medical students.Methods : Four internists involved in teaching activities defined 11 clinical examination items, with two objective performance criteria each. The students were evaluated in two internal medicine departments during the rotation preceding or following their national graduation test. Scores by item and by criterion and an overall score were calculated and correlated with their rank at the national graduation test.Results : Thirty-two students were evaluated in one department and 18 in the other; each evaluation lasted approximately 30 minutes. The results were similar in both departments. Only 2 items got a score over 75% in this students’ sample (acute respiratory failure, peripheral pulses); 4 items were satisfied at less than 50% (lymph nodes, right heart failure, liver failure, and attention). The mean overall score was 6.5/11 (standard deviation 1.5). National rankings were good (median 1605/8001, interquartile 453–3036) but uncorrelated with the global score (Spearman coefficient –0.13; P = 0.39).Conclusion : Bedside evaluation of the students reveals substantial deficiencies, a few months or weeks before taking their position as residents. Several elementary skills are mastered by a minority of them (search for an asterixis, distended jugular veins, deep tendon reflexes), even among those successful at the national graduation test. Bedside evaluation of clinical examination skills should be more systematically performed.Propos : Le savoir-faire en sémiologie clinique n’est pas évalué par les épreuves facultaires théoriques et l’examen national classant (ECN). Nous avons observé l’examen clinique de malades réels par des étudiants en fin de 2e cycle.Méthodes : Quatre internistes impliqués dans l’enseignement ont défini 11 items de sémiologie, avec deux critères objectifs de bonne réalisation pour chacun. Les étudiants en DCEM4 ont été évalués dans deux services de médecine interne durant le stage précédant ou suivant l’ECN. Des scores par critère, par item et globaux ont été établis et corrélés avec le rang à l’ECN.Résultats : Trente-deux étudiants ont été évalués dans un service et 18 dans l’autre ; chaque évaluation durait environ 30 minutes. Les résultats étaient similaires entre les deux services. Seuls 2 items obtenaient un score à plus de 75 % dans cet échantillon d’étudiants (détresse respiratoire, pouls périphériques) ; 4 items étaient satisfaits à moins de 50 % (aires ganglionnaires, insuffisance cardiaque droite, insuffisance hépatocellulaire, troubles de l’attention). Le score global moyen était à 6,5/11 (écart type 1,5). Les classements à l’ECN étaient bons (médiane 1605/8001, interquartile 453–3036) mais sans corrélation avec le score global d’évaluation sémiologique (coefficient de Spearman à –0,13 ; p = 0,39).Conclusion : L’évaluation des étudiants au lit du malade révèle des lacunes importantes, quelques mois ou semaines avant la prise de fonction comme interne. Certains gestes élémentaires (recherche des réflexes ostéotendineux, d’un astérixis, d’une turgescence jugulaire) sont maîtrisés par une minorité d’entre eux, pourtant bien classés à l’ECN

The influence of char preparation and biomass type on char steam gasification kinetics

A study was conducted to investigate the parameter that has influence on steam gasification kinetics between the biomass type and char preparation. Thermogravimetric analysis (TGA) was carried out on steam gasification of seven biomass samples as well as chars from three of these samples. Chars were prepared using three different sets of low heating rate (LHR) pyrolysis conditions including temperature and biomass bed geometry. It was shown by a characteristic time analysis that these pyrolysis conditions were not associated with a chemical regime in a large amount of devices. However, it has been shown experimentally that conditions used to prepare the char had a much lower influence on steam gasification kinetics than the biomass type

Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?

International audienceObjectives: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with MEFV mutations. Its main features are recurrent episodes of fever and serositis. Patients can display dermatological manifestations such as erysipelas-like erythema, generally considered as a neutrophilic dermatosis (ND). It has been suggested that FMF can be associated with other types of ND. Our aim was to perform a systematic review of the literature to assess the link between ND and FMF.Method: A systematic review of the literature was performed using MEDLINE from 1946 to 2018. Three independent investigators identified reports of non-erysipelas-like erythema neutrophilic dermatosis (NEND) associated with FMF, selected the criteria to establish the diagnosis of FMF and ND, and evaluated the link between the two conditions. FMF-associated NEND was supported by confirmation of both diagnoses and exclusion of other causes of ND.Results: Eighteen articles were selected. Nine articles reported FMF patients with the following NEND: neutrophilic panniculitis (n = 4), Sweet syndrome (n = 6), and pyoderma gangrenosum (n = 1). None of these cases was supported by histological confirmation, fulfilled diagnostic criteria for definitive or probable FMF, or confirmed the exclusion of all the most frequent diseases associated with NEND. As a result, there is insufficient evidence to support a potential relationship between NEND and FMF.Conclusions: The association between FMF and NEND remains unclear. In FMF patients with NEND, every differential diagnosis and alternative cause of NEND should be excluded before drawing any conclusions about a potential causal relationship