Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

OBJECTIVE: To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. METHODS: A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included. RESULTS: 136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss. CONCLUSIONS: Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions.

4 sånger op 136

Soitinnus: piano.

Ja, jag vill altting glömma, op. 136 Nr 4 [!]

Soitinnus: lauluääni, piano.

Hymnus der Liebe, opus 136

Soitinnus: lauluääni (baritoni), orkesteri.

Inheritance of anthracnose resistance in common bean genotypes P.I. 207262 and AB 136

Bean (Phaseolus vulgaris) lines P.I. 207262 and AB 136, both resistant to delta and kappa races of Colletotrichum lindemuthianum, were crossed with Michelite, Dark Red Kidney, and Perry Marrow, susceptible to both races, and with Cornell 49-242, resistant to delta and susceptible to kappa. F1 and F2 reactions demonstrated that P.I. 207262 carries duplicate dominant genes for resistance to the delta race; AB 136 carries a dominant gene. These resistance genes are independent of the Are gene from Cornell 49-242. With respect to the kappa race, F1 and F2 data showed that the resistance controlled by P.I. 207262 and by AB 136 depends on a single dominant gene. Complementary factors were involved with AB 136 resistance to the delta race and with P.I. 207262 resistance to kappa.

La Boisière : drame en 5 actes. [suivi de] Quand on attend sa bourse ! : comédie, mêlé de chant, en un acte. Livr. 136 / par MM. Théodore Barrière et Jaime fils ; par MM. Marc-Michel et Laurencin

Collection : Théâtre contemporain illustré ; 136e et 137e livraisons

Livre des Morts de Djéhoutyirydès. Egyptien 136

Grande scène au trait correspondant au chapitre 148. On voit le défunt en adoration devant Osiris Khentyimentyou accompagnée de la déesse de l'Occident, puis sept vaches et un taureau, quatre avirons et quatre groupes de trois divinités momiformes.Colonnes de texte :Col. 1, 1-11 et vignette : chapitre 155 avec titre rubriqué : "Formule du pilier-djed en or". La vignette contient un tel pilier.Col. 1, 12-19 et vignette : chapitre 156 avec titre rubriqué : "Formule du noeud-tit de jaspe rouge". La vignette montre ce noeud qui a la forme d'une clé de vie.Col. 2 et vignette : chapitre 162 avec titre rubrique "Formule pour faire qu'apparaisse une flamme sur la tête du bienheureux". La vignette montre une vache devant une fleur de lotus.

Resolución N° 136 ¿El traslado de domicilio del comerciante implica la cancelación de la matricula mercantil?

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