Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.

We investigated four European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers-Danlos syndrome (EDS), a connective tissue disorder. The kittens were sired by the same tomcat, but were born by three different mothers. The kittens had easily torn skin resulting in non-healing skin wounds. Both clinically and histologically, the skin showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs. The complete genome of an affected kitten was sequenced. A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All four affected cats carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect co-segregation with the autosomal recessive EDS phenotype in the available family. The mutant allele did not occur in 48 unrelated control cats. ADAMTS2 loss-of-function variants cause autosomal recessive forms of EDS in humans, mice, dogs, cattle and sheep. The available evidence from our investigation together with the functional knowledge on ADAMTS2 in other species allow to classify the identified ADAMTS2 variant as pathogenic and most likely causative variant for the observed EDS

Type I Interferon: Potential Therapeutic Target for Psoriasis?

Background: Psoriasis is an immune-mediated disease characterized by aberrant epidermal differentiation, surface scale formation, and marked cutaneous inflammation. To better understand the pathogenesis of this disease and identify potential mediators, we used whole genome array analysis to profile paired lesional and nonlesional psoriatic skin and skin from healthy donors. Methodology/Principal Findings: We observed robust overexpression of type I interferon (IFN)–inducible genes and genomic signatures that indicate T cell and dendritic cell infiltration in lesional skin. Up-regulation of mRNAs for IFN-a subtypes was observed in lesional skin compared with nonlesional skin. Enrichment of mature dendritic cells and 2 type I IFN–inducible proteins, STAT1 and ISG15, were observed in the majority of lesional skin biopsies. Concordant overexpression of IFN-c and TNF-a–inducible gene signatures occurred at the same disease sites. Conclusions/Significance: Up-regulation of TNF-a and elevation of the TNF-a–inducible gene signature in lesional skin underscore the importance of this cytokine in psoriasis; these data describe a molecular basis for the therapeutic activity of anti–TNF-a agents. Furthermore, these findings implicate type I IFNs in the pathogenesis of psoriasis. Consistent and significant up-regulation of type I IFNs and their associated gene signatures in psoriatic skin suggest that type I IFNs may b

Vera Cartonera, entre Gilda y Derrida

El capítulo recupera la historia y el recorrido de Vera Cartonera, una editorial universitaria cartonera que se inscribe en la Universidad Nacional del Litoral y el Instituto de Humanidades y Ciencias del Litoral, dependiente de Conicet.Fil: Pérez Aguilar, Anahí Lucía. No especifíca;Fil: Airaldi, Candela. No especifíca;Fil: Ariel, Federico. No especifíca;Fil: Balangero, Julián. No especifíca;Fil: Baldini, Virginia. No especifíca;Fil: Bitar, Francisco Miguel. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Bonetti, Carola. No especifíca;Fil: Bórtoli, Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Carrio, Cintia Valeria. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Coutaz, Federico. No especifíca;Fil: Cumin, Larisa Belén. No especifíca;Fil: Chávez, Félix. No especifíca;Fil: Cherri, Guillermina. No especifíca;Fil: Chialva, Ivana Selene. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Dolzani, Sofía Macarena. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Ferrante, Enzo. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gauna, Daniela Fernanda. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Gerbaudo, Analía Isabel. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Gómez Anziani, Guillermina. No especifíca;Fil: Gudiño, Micaela. No especifíca;Fil: Ibáñez, Susana. No especifíca;Fil: Kiener, Laura. No especifíca;Fil: Larker, Vera. No especifíca;Fil: Molinas, Isabel Sabina. No especifíca;Fil: Miglioli, Valentina. No especifíca;Fil: Mihal, Ivana Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Nudelman, Ianina. No especifíca;Fil: Perticará, Mariana Andrea. No especifíca;Fil: Ramírez, Cristian. No especifíca;Fil: Sabena, María Julia. Universidad Nacional del Litoral; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Sanseverinatt, Zoe. No especifíca;Fil: Santomero, Lucila. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Sierra, Gabriela. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Sobré, Amalia. No especifíca;Fil: Sterli, Laura. No especifíca;Fil: Szpilbarg, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Torres, Patricia. No especifíca;Fil: Tosti, Ivana. No especifíca;Fil: Venturini, Santiago. Universidad Nacional del Litoral. Instituto de Humanidades y Ciencias Sociales del Litoral. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Humanidades y Ciencias Sociales del Litoral; ArgentinaFil: Yódice, Paula. No especifíca

Role of NLRP3 inflammasome in human periodontal disease and its histopathological aspects

Fil: Tomasi, Ramiro Alejandro. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Anatomía Patológica A; Argentina.Fil: Verde, María Eugenia. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Periodoncia A; Argentina.Fil: De Elias Boque, Rafael Francisco. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.Fil: Kiener, AG. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.Fil: Stutz, María Laura. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Periodoncia A; Argentina.Fil: Gea, Susana Elba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.OBJETIVO: Este trabajo preliminar investiga la expresión de NLRP3 conjuntamente con citoqueratinas y describeaspectos histopatológicos del tejido gingival de pacientes con enfermedad periodontal y controles sin enfermedad.MATERIALES Y MÉTODOS: Se estudiaron biopsias de tejido gingival de pacientes (n=4 grupo de estudio, y n=2grupo control), de ambos sexos, mediante un estudio descriptivo transversal (CIEIS n°36). Las muestras fueronfijadas con formol al 10 %, en PBS 1x, deshidratadas en sacarosa 30%, en PBS 1x. Se conformaron tacos deOCT, se realizaron cortes de 5 a 7 micras y se tiñeron con Hematoxilina y Eosina. Para llevar a cabo técnica deinmunofluorescencia, las muestras fueron bloqueadas con PBS y BSA al 2% e incubadas overnight a 4°C conanticuerpos primarios anti-NLRP3 y anti-pancytokeratin. Las secciones se incubaron con el anticuerpo secundariomarcado con fluorocromo (Alexa- 546 y Alexa-488). Los núcleos fueron coloreados utilizando fluorocromo Hoechst33258. Se realizó prueba estadística exacta de Fisher con un nivel de significancia del 95%.RESULTADOS: Seobservó marca positiva para NLRP3 y pancitoqueratina en todas las muestras analizadas del grupo de estudio enrelación con el grupo control que solamente presentó positividad para pancitoqueratina. Estos resultados muestran,la activación del inflamasoma NLRP3 en células epiteliales del tejido gingival (p=0,03). Los hallazgos histopatológicosobservados fueron, papilomatosis, infiltrado linfoplasmocitario de moderado a intenso (p=0,03) y en menor grado,de células polimorfonucleares. CONCLUSIÓN: Estos hallazgos sientan las bases de uno de los mecanismos inmunesinvolucrados en la patogénesis de esta enfermedad y podría conducir estrategias tendientes a modular la respuestainmune a fin de controlar la infección periodontal, minimizar las secuelas locales y consecuencias sistémicas de ésta.https://saio.org.ar/?page_id=104Fil: Tomasi, Ramiro Alejandro. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Anatomía Patológica A; Argentina.Fil: Verde, María Eugenia. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Periodoncia A; Argentina.Fil: De Elias Boque, Rafael Francisco. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.Fil: Kiener, AG. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.Fil: Stutz, María Laura. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra de Periodoncia A; Argentina.Fil: Gea, Susana Elba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas; Argentina.Otras Ciencias de la Salu

Parental and provider vaccine hesitancy and non-timely childhood vaccination in Switzerland

OBJECTIVE: Although medical providers are a trusted vaccination information source for parents, they do not universally support vaccination. Complementary medicine (CM) providers are particularly likely to hold vaccine hesitant (VH) views, and VH parents often consult with them. Little research compares VH of parents and providers, and if and how each is associated with uptake of recommended childhood vaccines. METHODS: We defined non-timely receipt as recommended vaccines given > 1 month later than officially recommended, based on vaccination records. We administered versions of the Parent Attitudes about Childhood Vaccines (PACV) 5-item survey instrument to 1256 parents and their children's pediatricians (N = 112, 40 CM-oriented, 72 biomedical [not CM-oriented]) to identify moderately (PACV-score 5-6) and highly (PACV-score 7+) hesitant providers/parents. We obtained multivariable adjusted odds ratios to test relationships between parental VH and provider type/VH, and between non-timely receipt of selected childhood vaccines and parental VH and provider type/VH. RESULTS: No biomedical providers were VH, 9 CM providers were moderately VH, and 17 were highly VH. Parents seeing moderately and highly hesitant providers had adjusted odds ratio (AOR) for being VH = 6.6 (95% confidence interval (CI), 3.1-14.0) and AOR = 31.3 (95% CI 16.8-58.3), respectively. Across all vaccine uptake endpoints, children of moderately and highly hesitant parents had 1.9-3.8 and 7.1-12.3 higher odds of non-timely vaccination, and children seeing highly hesitant CM providers had 4.9-9.4 higher odds. Children seeing moderately hesitant CM providers had 3.3 higher odds of non-timely vaccination for the 1st dose of measles and 3.5 higher odds for 1st dose of polio/pertussis/tetanus. CONCLUSION: VH by both parents and providers each is associated with non-timely childhood vaccination. As VH parents are more likely to consult with VH providers, interventions aimed at increasing timely vaccination need to primarily target VH providers and their clients

Parental and provider vaccine hesitancy and non-timely childhood vaccination in Switzerland

Objective Although medical providers are a trusted vaccination information source for parents, they do not universally support vaccination. Complementary medicine (CM) providers are particularly likely to hold vaccine hesitant (VH) views, and VH parents often consult with them. Little research compares VH of parents and providers, and if and how each is associated with uptake of recommended childhood vaccines. Methods We defined non-timely receipt as recommended vaccines given > 1 month later than officially recommended, based on vaccination records. We administered versions of the Parent Attitudes about Childhood Vaccines (PACV) 5-item survey instrument to 1256 parents and their children’s pediatricians (N = 112, 40 CM-oriented, 72 biomedical [not CM-oriented]) to identify moderately (PACV-score 5–6) and highly (PACV-score 7+) hesitant providers/parents. We obtained multivariable adjusted odds ratios to test relationships between parental VH and provider type/VH, and between non-timely receipt of selected childhood vaccines and parental VH and provider type/VH. Results No biomedical providers were VH, 9 CM providers were moderately VH, and 17 were highly VH. Parents seeing moderately and highly hesitant providers had adjusted odds ratio (AOR) for being VH = 6.6 (95% confidence interval (CI), 3.1–14.0) and AOR = 31.3 (95% CI 16.8–58.3), respectively. Across all vaccine uptake endpoints, children of moderately and highly hesitant parents had 1.9–3.8 and 7.1–12.3 higher odds of non-timely vaccination, and children seeing highly hesitant CM providers had 4.9–9.4 higher odds. Children seeing moderately hesitant CM providers had 3.3 higher odds of non-timely vaccination for the 1st dose of measles and 3.5 higher odds for 1st dose of polio/pertussis/tetanus. Conclusion VH by both parents and providers each is associated with non-timely childhood vaccination. As VH parents are more likely to consult with VH providers, interventions aimed at increasing timely vaccination need to primarily target VH providers and their clients

HPV vaccine awareness, knowledge and information sources among youth in Switzerland: a mixed methods study

Objectives. We aimed to provide a detailed characterisation of human papillomavirus (HPV) vaccine awareness, knowledge and information sources in the HPV vaccine decision-making process of youth, both male and female, in Switzerland. Design. With a mixed-method study design, we conducted quantitative questionnaires and qualitative interviews, which lasted 20–45 min. Setting and participants. We recruited participants, 15–26 years of age, in physicians’ offices, in a local sexual health clinic, and during military enlistment. We administered quantitative questionnaires to 997 youth participants (585 male, 412 female) and conducted qualitative interviews with 31 youth (17 male, 14 female). Primary and secondary outcome measures. We assessed HPV vaccine awareness, knowledge, information sources and vaccination status. Results. In the study’s quantitative component, 108 (20%) male and 262 (65%) female participants had received ≥1 dose of HPV vaccine. 697 (70%) participants were knowledgeable about the HPV vaccine. Females were more likely to be knowledgeable than males (342/412 (83%) vs 355/585 (61%); p4 years prior to the data collection, HPV vaccine knowledge was higher among females than males, and a female-gendered perception of HPV vaccine remains prevalent. Internet and social media were minor HPV vaccine information sources. Study findings demonstrate that HPV knowledge matters for HPV vaccine uptake and suggest that we should improve HPV information quality and access for youth, particularly by tailoring knowledge campaigns to young men