The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspicion followed by confirmatory laboratory testing. The aim of this work is to report the 14 years’ experience and learnings in the diagnosis of patients with Fabry disease in Argentina from a specialized lysosomal diseases diagnosis laboratory and to report the genotype characterization of the 25 families from Argentina with FD detected by us.Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Roa, Norma. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Kisinovsky, Isaac. Sanatorio Urquiza; Argentin

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspicion followed by confirmatory laboratory testing. The aim of this work is to report the 14 years’ experience and learnings in the diagnosis of patients with Fabry disease in Argentina from a specialized lysosomal diseases diagnosis laboratory and to report the genotype characterization of the 25 families from Argentina with FD detected by us.Facultad de Ciencias ExactasInstituto de Estudios Inmunológicos y Fisiopatológico

A 2D-DIGE-based proteomic analysis reveals differences in the platelet releasate composition when comparing thrombin and collagen stimulations

Upon stimulation, platelets release a high number of proteins (the releasate). There are clear indications that these proteins are involved in the pathogenesis of several diseases, such as atherosclerosis. In the present study we compared the platelet releasate following platelet activation with two major endogenous agonists: thrombin and collagen. Proteome analysis was based on 2D-DIGE and LC-MS/MS. Firstly, we showed the primary role of thrombin and collagen receptors in platelet secretion by these agonists; moreover, we demonstrated that GPVI is the primary responsible for collagen-induced platelet activation/aggregation. Proteomic analysis allowed the detection of 122 protein spots differentially regulated between both conditions. After excluding fibrinogen spots, down-regulated in the releasate of thrombin-activated platelets, 84 differences remained. From those, we successfully identified 42, corresponding to 37 open-reading frames. Many of the differences identified correspond to post-translational modifications, primarily, proteolysis induced by thrombin. Among others, we show vitamin K-dependent protein S, an anticoagulant plasma protein, is up-regulated in thrombin samples. Our results could have pathological implications given that platelets might be playing a differential role in various diseases and biological processes through the secretion of different subsets of granule proteins and microvesicles following a predominant activation of certain receptors.Ministerio de Economía y Competitividad (MINECO). (España)European regional developmental fund (ERDF)Ministerio de Economía y Competitividad (MINECO)/SAF2010-2251Ministerio de Economía y Competitividad (MINECO)/SAF2013-45014-

Estudo preliminar da variação da pressão arterial carotídea e venosa jugular com doppler em felídeos geriátricos

Dissertação de Mestrado Integrado em Medicina VeterináriaA Pressão Arterial (PA) é definida como a força pulsátil exercida pelo sangue nas paredes das artérias aquando da sua passagem, devido às contrações cardíacas, e oscilando em redor de um valor designado por Pressão Arterial Média (PAM). A PAM situa-se entre um valor máximo correspondente à Pressão Arterial Sistólica (PAS) e um valor mínimo correspondente à Pressão Arterial Diastólica (PAD). Os indivíduos saudáveis mantêm a PA dentro de um intervalo de valores adequado, graças à existência de um conjunto de mecanismos reguladores que concorrem para a manutenção da homeostasia deste parâmetro. A elevação persistente da PA para valores acima da PAS define uma condição de hipertensão sistémica, a qual poderá associar-se a condições com ou sem expressão clínica. O aumento da esperança média de vida nos animais de companhia, tem sido acompanhado da emergência de novas condições clínicas da qual a Hipertensão Arterial é uma das mais frequentes. O conhecimento sobre a sua etiologia, o seu diagnóstico e a elaboração de protocolos terapêuticos adequados para o seu controlo, são premissas fundamentais do Médico Veterinário dos dias atuais. A valoração da PA pode ser conseguida utilizando métodos diretos ou invasivos, e métodos indiretos ou não invasivos, estando estes últimos associados a diferentes níveis de confiança quanto aos resultados obtidos. O presente estudo foi desenvolvido numa amostra de 34 gatos saudáveis (n=34) de ambos os géneros, e teve como objetivo caracterizar a correlação existente entre dois métodos indiretos de avaliação da PA: o Doppler (através da medição da velocidade do fluxo sanguíneo arterial, e do diâmetro da artéria carótida) e a oscilometria de alta definição (através da obtenção dos valores da PAS e da PAD). A amostra total foi dividida em dois grupos de acordo com as faixas etárias dos indivíduos: gatos jovens (GJ) e gatos séniores (GS). Utilizando a oscilometria de alta definição obteve-se para a PAS uma média de 133.64±7.41 mmHg no GJ, e de 134.44±14.23 mmHg no GS. Para a PAD a média foi de 83.36±8.48 mmHg no GJ, e de 85.00±10.6 mmHg no GS. Não se verificaram diferenças estatisticamente significativas entre ambos os grupos. Foi possível obter uma correlação positiva entre a PAS e a Velocidade Máxima Sistólica (VMS) (p<0.001), e a PAD e a Velocidade Mínima Diastólica (VMD) (p<0.001); permitindo concluir que a uma PA com valores normais corresponderá uma VMS e uma VMD também normais.ABSTRACT - PRELIMINARY STUDY OF THE ARTERIAL AND VENOUS (JUGULAR) BLOOD PRESSURE WITH DOPPLER IN GERIATRIC CATS - Blood pressure (BP) is defined as the pulsatile force exerted by blood on the artery walls during its passage due to heart contractions. The average BP value is known as Mean Arterial Pressure (MAP), ranging between a maximum value - Systolic Blood Pressure (SBP) and a minimum value - Diastolic Blood Pressure (DBP). Healthy individuals maintain the BP within an appropriate range of values, due to the existence of various regulatory mechanisms that contribute to the maintenance of homeostasis of this parameter. Persistent elevation of BP to values above the SBP defines a systemic hypertension condition, which may be associated with conditions with and without clinical expression. The increase in average lifespan in pets, has been accompanied by the emergence of new medical conditions of which Arterial Hypertension (HA) is one of the most frequent. Its etiology, diagnosis and development of appropriate treatment protocols for its control are fundamental premises of the current day clinicians. Measurement of BP may be achieved using direct or invasive methods, and indirect or non-invasive methods. The last ones are associated with different confidence levels regarding the results. The present study was conducted on a sample of 34 healthy cats (n = 34) of both genders and aimed to characterize the correlation between two indirect methods of assessing BP: Doppler (by measuring arterial blood flow velocity and the carotid artery diameter) and high definition oscillometry (by obtaining the SBP and DBP). The sample was divided into two groups according to age of the specimens: young cats (YC) and senior cats (SC). By using the high definition oscillometry an average of 133.64 ± 7:41 mmHg in YC, and 134.44 ± 14:23 mmHg in SC were obtained for SBP. The average of DBP was 83.36 ± 8:48 mmHg in YC, and 85.00 ± 10.6 mmHg in SC. No statistically significant differences were registered between both groups. It was possible to obtain a positive correlation between SBP and Systolic Maximum Velocity (SMV) (p <0.001), and between DBP and the Diastolic Minimum Velocity (DMV) (p <0.001); allowing to conclude that to a normal BP value it should be expect a normal SMV and SMV values

The lacrimo-auriculo-dento-digital syndrome (LADD): case report and literature review

Levy-Hollister or lacrimo-auriculo-dento-digital (LADD) syndrome is a rare entity with autossomic dominant inheritance occuring as an isolated form or affecting many family generations. Diagnosis is based on the identification of the lacrimal drainage system abnormalities with reduction or absence of tear production and bone, teeth, salivar glands and outer ear abnormalities. A 13 year-old male patient has been followed at the Hospital Servidor Público Estadual in São Paulo due to dry eye since his first year of life. Due to the occurrence of early ocular manifestations in patients with Levy-Hollister or lacrimo-auriculo-dento-digital syndrome, ophthalmologists must be aware to recognize and control this syndrome.A síndrome de Levy-Hollister ou lacrimo-auriculo-dento-digital (LADD) é uma síndrome rara, de herança autossômica dominante, podendo ocorrer de forma isolada ou em várias gerações de uma mesma família. O diagnóstico é feito por meio da identificação de anormalidades do sistema lacrimal, como redução ou ausência de produção de lágrimas, alterações ósseas, dentárias, de glândulas salivares e orelha externa. Trata-se de uma criança, de 13 anos, em acompanhamento no Hospital do Servidor Público Estadual de São Paulo desde os cinco meses de idade, com quadro clínico compatível com a síndrome, apresentando quadro de olho seco. Devido ao fato das manifestações oculares ocorrerem precocemente, sendo o oftalmologista um dos primeiros profissionais a ser procurado, o mesmo deve ter conhecimento da síndrome, a fim de diagnosticar e acompanhar adequadamente o indivíduo acometido.Universidade Federal do ParáHospital do Servidor Público Estadual de São PauloUniversidade Federal de São Paulo (UNIFESP) Instituto de Assistência Médica ao Servidor Público Estadual Hospital BrigadeiroUniversidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM)UNIFESP, Instituto de Assistência Médica ao Servidor Público Estadual Hospital BrigadeiroUNIFESP, EPMSciEL

O jornalismo de saúde televisivo e a população portuguesa com mais de 60 anos

A presente investigação procura analisar a relação da população idosa portuguesa, com 60 ou mais anos, com o jornalismo de saúde televisivo. Para esse efeito, a amostra elegida para estudo foram os alunos de seis Universidades Sénior da Região Oeste: Alfeizerão, Caldas da Rainha, Landal, Nazaré, Pataias e Peniche. A escolha desta amostra está relacionada com o facto de a autora ter pré-definido alguns critérios de seleção dos participantes, tais como “ver noticiários televisivos” e “ter capacidade de raciocínio e aptidão para apreender e compreender a informação” - fatores à partida garantidos, uma vez que se trata de idosos ativos e com a capacidade para estudar na universidade. No total, participaram 147 séniores. Para estudar a vertente do jornalismo de saúde em televisão, a autora optou por entrevistar jornalistas e pivôs que estivessem, de alguma forma, relacionados com a temática da saúde. Dado que o estágio da autora decorreu na “Rádio e Televisão de Portugal” (RTP), todos os jornalistas entrevistados pertenciam – no momento da entrevista – a esta mesma estação televisiva. O objetivo de analisar a relação da população sénior com o jornalismo de saúde em televisão ascende da vontade da autora em querer perceber de que forma é que esta relação é mantida, de que forma é que a mesma se desenvolve e, ainda, quais as consequências que dela advêm.The current investigation seeks to analyze the relationship between Portuguese elderly population and television health journalism. For this purpose, the sample chosen to this study are students from six Senior Universities in the West Region of Portugal: Alfeizerão, Caldas da Rainha, Landal, Nazaré, Pataias e Peniche. The choice of this sample is related with the fact the author has established some criteria to select the participants, such as “watching television news” and “having reasoning ability and skills to understand and comprehend the information” - factors that are guaranteed in advance, since since they have the skills to study at the university. In total, 147 seniors participated in the study. To study the strand of health journalism in television, the author chose to interview journalists and news anchors that are somehow related to the subject . Since the author’s internship took place at “Rádio e Televisão de Portugal” (RTP), all the interviewed journalists were employees of the company, at the time of the interview. The goal of analyzing the relationship between senior population and health journalism in television rises from the author’s desire to understand how this relationship is maintained, how it develops and the consequences

Propuesta para la creación, evaluación y diseminación de Recursos Educativos a partir de un proceso de virtualización de cursos universitarios

A nivel universitario se produce gran cantidad de material educativo dirigido a la educación presencial. Sin embargo, este material es usado sólo por los estudiantes en los cursos del profesor que desarrolló el material, no es compartido con otros estudiantes tanto dentro como fuera de la universidad y no está optimizado para entornos virtuales. Los profesores desconocen cómo pueden compartir el material desarrollado para ganar visibilidad a través de Recursos Educativos Abiertos (REA).Eje: Visibilidad e interoperabilidad.Ibero-American Science and Technology Education Consortium (ISTEC

The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model

Williams-Beuren syndrome (WBS) is a rare disorder caused by a recurrent microdeletion with hallmarks of cardiovascular manifestations, mainly supra-valvular aortic stenosis (SVAS). Unfortunately, there is currently no efficient treatment. We investigated the effect of chronic oral treatment with curcumin and verapamil on the cardiovascular phenotype of a murine model of WBS harbouring a similar deletion, CD (complete deletion) mice. We analysed systolic blood pressure in vivo and the histopathology of the ascending aorta and the left ventricular myocardium to determine the effects of treatments and their underlying mechanism. Molecular analysis showed significantly upregulated xanthine oxidoreductase (XOR) expression in the aorta and left ventricular myocardium of CD mice. This overexpression is concomitant with increased levels of nitrated proteins as a result of byproduct-mediated oxidative stress damage, indicating that XOR-generated oxidative stress impacts the pathophysiology of cardiovascular manifestations in WBS. Only the combined therapy of curcumin and verapamil resulted in a significant improvement of cardiovascular parameters via activation of the nuclear factor erythroid 2 (NRF2) and reduction of XOR and nitrated protein levels. Our data suggested that the inhibition of XOR and oxidative stress damage could help prevent the severe cardiovascular injuries of this disorder

Interaction between bovine mammary epithelial cells and planktonic or biofilm Staphylococcus aureus: The bacterial lifestyle determines its internalization ability and the pathogen recognition

The main cause of mastitis, one of the most costly diseases in the dairy industry, is bacterial intramammary infection. Many of these bacteria are biofilm formers. Biofilms have been associated with resistance to antibiotics and to the host immune system. Here, we evaluated different experimental models representing bacterial biofilm lifestyle with the aim to study bacterial invasion into bovine mammary epithelial cells and the interaction of these cells with planktonic or biofilm Staphylococcus aureus. Staphylococcus aureus V329, its nonbiofilm-forming mutant and bovine mammary alveolar cells (MAC-T) were used. Bacterial invasion was studied using the gentamicin exclusion test, cell viability by trypan blue exclusion technique, TLR2 expression by flow cytometry, IL1β/IL6 production by ELISA and IL8/TNFα gene expression by real-time polymerase chain reaction. Biofilm and planktonic S. aureus showed differences in their invasion ability, with the biofilm mode showing a lower ability. Planktonic S. aureus reduced MAC-T viability after 6 h of co-culture, while biofilms did so at 24 h. MAC-T infected with planktonic bacteria showed increased TLR2 expression. Both lifestyles increased IL8 expression and IL1β/IL6 production but did not modify TNFα expression. Our results demonstrate that the bacterial lifestyle affects the invasion behavior, suggesting that biofilms reduce the bacteria-epithelial cell interaction. Planktonic cultures seem to induce higher cellular activation than biofilms. Further knowledge about the complex host-biofilm interaction is necessary to design more efficient therapies against bovine mastitis.Fil: Bohl, Luciana Paola. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; ArgentinaFil: Isaac, Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; ArgentinaFil: Breser, Maria Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; ArgentinaFil: Orellano, María Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; ArgentinaFil: Correa, Silvia Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; ArgentinaFil: Tolosa, Nori Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; ArgentinaFil: Porporatto, Carina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones y Transferencia de Villa María. Universidad Nacional de Villa María. Centro de Investigaciones y Transferencia de Villa María; Argentin

HYPOGLYCEMIC ACTIVITY OF COPERNICIACERIFERA MART.L.EAF POWDER EXTRACT IN THE TREATMENT OF ALLOXAN-INDUCED DIABETIC MICE

Objective: This study characterizeesters from carnauba crude powder and evaluates its hypoglycemic effect on the treatment of diabetic animals. Methods: Groups of diabetic micewere induced by alloxan and treated with carnauba crude powder. Blood samples were collected to determine the glucose serum level. Results: The compound was identified and characterized as diester of the 4-methoxycinnamic acid (PCO-C) and presented hypoglycemic effect in the concentrations of 100 and 150 mg/kgbody weight (b.w. )The concentration 150 mg/kg b.w..o.f PCO-C presented the best effect on controlling glucose levels (p&lt;0.05),when compared to the reference drug. Conclusion: The results indicate that the PCO-C is a promising therapeutic compound with hypoglycemic effect. This action can be justified by the presence of the diester of 4- methoxycinnamic acid