Arquitectura y expresiones culturales como factores de diferenciación en las denominaciones de origen del Perú

Resumen El presente trabajo busca esclarecer si la D.O. es una herramienta eficiente de promoción ó protección para industrias incipientes, también dimensionar la contribución de componentes intangibles, como la tradición y el patrimonio monumental, en la formación de valor del producto protegido. Para ello se realizaron evaluaciones comparativas entre DO de relevancia mundial en relación con las D.O. reconocidas oficialmente en el Perú. La conclusión es que el valor no se genera espontáneamente, que existe una gran voluntad, mayor confusión conceptual y urgente necesidad de dotar a las industrias culturales de esquemas de protección más flexibles y detener el desmontaje del patrimonio monumental que legitima, diferencia y brinda soporte a la promesa base de autenticidad. Abstract This paper seeks to clarify whether the DO is an efficient tool for the promotion or protection of infant industries. It also seeks to gauge the contribution of intangible components such as tradition and architectural heritage in the creation of value of the protected product. For this purpose, comparative evaluations were conducted between globally significant DOs and the DOs that are officially recognized in Peru. The conclusion is that value is not generated spontaneously; there is a strong will, ore conceptual confusion and an urgent need to provide cultural industries with more flexible schemes of protection, and to stop the dismantling of architectural heritage that legitimizes, differentiates and supports the promise based on authenticity.

Le mode de ventilation neurally adjusted ventilatory assist (NAVA) est faisable, bien toléré, et permet la synchronie entre le patient et le ventilateur pendant la ventilation non invasive aux soins intensifs pédiatriques : étude physiologique croisée

Introduction: La ventilation non invasive (VNI) est un outil utilisé en soins intensifs pédiatriques (SIP) pour soutenir la détresse respiratoire aigüe. Un échec survient dans près de 25% des cas et une mauvaise synchronisation patient-ventilateur est un des facteurs impliqués. Le mode de ventilation NAVA (neurally adjusted ventilatory assist) est asservi à la demande ventilatoire du patient. L’objectif de cette étude est d’évaluer la faisabilité et la tolérance des enfants à la VNI NAVA et l’impact de son usage sur la synchronie et la demande respiratoire. Méthode: Étude prospective, physiologique, croisée incluant 13 patients nécessitant une VNI dans les SIP de l’hôpital Ste-Justine entre octobre 2011 et mai 2013. Les patients ont été ventilés successivement en VNI conventionnelle (30 minutes), en VNI NAVA (60 minutes) et en VNI conventionnelle (30 minutes). L’activité électrique du diaphragme (AEdi) et la pression des voies aériennes supérieures ont été enregistrées pour évaluer la synchronie. Résultats: La VNI NAVA est faisable et bien tolérée chez tous les enfants. Un adolescent a demandé l’arrêt précoce de l’étude en raison d’anxiété reliée au masque sans fuite. Les délais inspiratoires et expiratoires étaient significativement plus courts en VNI NAVA comparativement aux périodes de VNI conventionnelle (p< 0.05). Les efforts inefficaces étaient moindres en VNI NAVA (résultats présentés en médiane et interquartiles) : 0% (0 - 0) en VNI NAVA vs 12% (4 - 20) en VNI conventionnelle initiale et 6% (2 - 22) en VNI conventionnelle finale (p< 0.01). Globalement, le temps passé en asynchronie a été réduit à 8% (6 - 10) en VNI NAVA, versus 27% (19 - 56) et 32% (21 - 38) en périodes de VNI conventionnelle initiale et finale, respectivement (p= 0.05). Aucune différence en termes de demande respiratoire n’a été observée. Conclusion: La VNI NAVA est faisable et bien tolérée chez les enfants avec détresse respiratoire aigüe et permet une meilleure synchronisation patient-ventilateur. De plus larges études sont nécessaires pour évaluer l’impact clinique de ces résultats.

Le mode de ventilation neurally adjusted ventilatory assist (NAVA) est faisable, bien toléré, et permet la synchronie entre le patient et le ventilateur pendant la ventilation non invasive aux soins intensifs pédiatriques : étude physiologique croisée

Introduction: La ventilation non invasive (VNI) est un outil utilisé en soins intensifs pédiatriques (SIP) pour soutenir la détresse respiratoire aigüe. Un échec survient dans près de 25% des cas et une mauvaise synchronisation patient-ventilateur est un des facteurs impliqués. Le mode de ventilation NAVA (neurally adjusted ventilatory assist) est asservi à la demande ventilatoire du patient. L’objectif de cette étude est d’évaluer la faisabilité et la tolérance des enfants à la VNI NAVA et l’impact de son usage sur la synchronie et la demande respiratoire. Méthode: Étude prospective, physiologique, croisée incluant 13 patients nécessitant une VNI dans les SIP de l’hôpital Ste-Justine entre octobre 2011 et mai 2013. Les patients ont été ventilés successivement en VNI conventionnelle (30 minutes), en VNI NAVA (60 minutes) et en VNI conventionnelle (30 minutes). L’activité électrique du diaphragme (AEdi) et la pression des voies aériennes supérieures ont été enregistrées pour évaluer la synchronie. Résultats: La VNI NAVA est faisable et bien tolérée chez tous les enfants. Un adolescent a demandé l’arrêt précoce de l’étude en raison d’anxiété reliée au masque sans fuite. Les délais inspiratoires et expiratoires étaient significativement plus courts en VNI NAVA comparativement aux périodes de VNI conventionnelle (p< 0.05). Les efforts inefficaces étaient moindres en VNI NAVA (résultats présentés en médiane et interquartiles) : 0% (0 - 0) en VNI NAVA vs 12% (4 - 20) en VNI conventionnelle initiale et 6% (2 - 22) en VNI conventionnelle finale (p< 0.01). Globalement, le temps passé en asynchronie a été réduit à 8% (6 - 10) en VNI NAVA, versus 27% (19 - 56) et 32% (21 - 38) en périodes de VNI conventionnelle initiale et finale, respectivement (p= 0.05). Aucune différence en termes de demande respiratoire n’a été observée. Conclusion: La VNI NAVA est faisable et bien tolérée chez les enfants avec détresse respiratoire aigüe et permet une meilleure synchronisation patient-ventilateur. De plus larges études sont nécessaires pour évaluer l’impact clinique de ces résultats.

O Abuso Sexual de Crianças e a Criança no Papel de Testemunha

O presente estudo pretende explorar a perceção dos profissionais de saúde mental acerca do crime de abuso sexual de crianças e as competências da criança no papel de testemunha, centrando-se para tal, na identificação das crenças e mitos existentes entre os participantes, no âmbito dessa problemática. Esta investigação pretende assim alargar o conhecimento relativamente a esta temática, enfatizando o facto de que qualquer profissional pode ratificar mitos de abuso sexual e que isso pode interferir nas suas atitudes perante a atribuição de credibilidade à criança. Os dados foram obtidos através da técnica da entrevista, como recurso a uma entrevista semi-estruturada e um questionário sócio-demográfico. Foram analisadas 11 entrevistas de uma amostra constituída por 9 psicólogos, 1 psiquiatria e 1 pedopsiquiatria, sendo 8 participantes dos sexo feminino e 3 do sexo masculino. Da análise realizada observou-se que os participantes detêm crenças adequadas quanto à situação abusiva; aos motivos para a criança não revelar a situação abusiva ou revelar apenas tardiamente; e quais os fatores que estão implicados/ afetam as competências da criança, enquanto testemunha credível. Por sua vez, os mitos observados surgiram relativamente ao agressor, acreditando que os abusadores apresentam caraterísticas distintas das outras pessoas e/ou doença mental e que abusam de crianças e/ou adolescentes motivados por um gosto padrão; relativamente às vítimas, acreditando que os rapazes adolescentes podem defender-se do abuso e que os adolescentes são abusados por terem caraterísticas semelhantes aos adultos; e sobre as caraterísticas do testemunho realizado pela criança, acreditando que as crianças não mentem sobre situações de abuso sexual e que não podem recordar/reportar de forma fidedigna eventos que aconteceram há muito tempo.

Alcances y límites del principio de la responsabilidad de proteger: actuación del consejo de seguridad frente al conflicto en libia en el 2011 y Siria durante el periodo 2011-2014.

El propósito de este estudio de caso es determinar los alcances y límites de la Responsabilidad de Proteger, tomando como ejemplo la actuación del Consejo de Seguridad de Naciones Unidas ante el conflicto en Libia y Siria. Para esto es necesario analizar fuentes primarias documentos oficiales y secundarias como artículos académicos, para así comprobar que la evolución del concepto de soberanía ha permitido que se legitimen las intervenciones con fines humanitarios, ya que todos los Estados tienen la responsabilidad de garantizar la protección de los derechos humanos de sus ciudadanos, de lo contrario, la comunidad internacional debe tomar medidas para evitar o detener los crímenes masivos.

Papel de la comunidad internacional en la resocialización de niños soldados desvinculados del ejército de resistencia del señor en Uganda (2002-2013)

El objetivo de esta investigación diagnóstica es evaluar las acciones de la Comunidad Internacional en materia de resocialización de niños soldados desvinculados del Ejército de Resistencia del Señor (ERS) en Uganda durante el periodo de 2002 a 2013. Para ello, se hace un análisis de las causas de la existencia de niños soldados, donde se tiene en cuenta la evolución del concepto de la infancia y las particularidades que éste representa en el contexto africano. Así mismo, son analizados los alcances y limitaciones del modelo de asistencia humanitaria para la protección de la niñez enfatizando en los procesos de resocialización brindados a los niños desvinculados del ERS. Esto con el fin de evidenciar las limitaciones de la actuación de la Comunidad Internacional, y brindar una serie de recomendaciones para la implementación de programas de resocialización enfocados en la infancia.

mRNA metabolism: nonsense mediated mRNA decay as a tool for gene therapy and the role of human DIS3L2 in transcript degradation

Tese de mestrado em Biologia Humana e Ambiente, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2015

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.Conclusion: This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

Recognition of Yeast mRNAs as “Nonsense Containing” Leads to Both Inhibition of mRNA Translation and mRNA Degradation: Implications for the Control of mRNA Decapping

A critical step in the degradation of many eukaryotic mRNAs is a decapping reaction that exposes the transcript to 5′ to 3′ exonucleolytic degradation. The dual role of the cap structure as a target of mRNA degradation and as the site of assembly of translation initiation factors has led to the hypothesis that the rate of decapping would be specified by the status of the cap binding complex. This model makes the prediction that signals that promote mRNA decapping should also alter translation. To test this hypothesis, we examined the decapping triggered by premature termination codons to determine whether there is a down-regulation of translation when mRNAs were recognized as “nonsense containing.” We constructed an mRNA containing a premature stop codon in which we could measure the levels of both the mRNA and the polypeptide encoded upstream of the premature stop codon. Using this system, we analyzed the effects of premature stop codons on the levels of protein being produced per mRNA. In addition, by using alterations either in cis or in trans that inactivate different steps in the recognition and degradation of nonsense-containing mRNAs, we demonstrated that the recognition of a nonsense codon led to a decrease in the translational efficiency of the mRNA. These observations argue that the signal from a premature termination codon impinges on the translation machinery and suggest that decapping is a consequence of the change in translational status of the mRNA.

Cumulative doses of radioiodine in the treatment of differentiated thyroid carcinoma: knowing when to stop

OBJECTIVE: Evaluate the efficacy of cumulative doses (CDs) of 131I-iodide therapy (RIT) in differentiated thyroid cancer (DTC). SUBJECTS AND METHODS: The probability of progressive disease according to CDs was evaluated in patients < 45 years old and > 45 years old and correlated to tumor-node-metastasis (TNM), thyroglobulin values, histological types and variants, age, and zduration of the disease. RESULTS: At the end of a follow-up period of 69 ± 56 months, 85 out of 150 DTC patients submitted to fixed doses RIT had no evidence of disease, 47 had stable disease and 18 had progressive disease. Higher CDs were used in the more aggressive variants (p < 0.0001), higher TNM stages (p < 0.0001), and follicular carcinomas (p = 0.0034). Probability of disease progression was higher with CDs > 600 mCi in patients > 45 years old and with CDs > 800 mCi in patients < 45 years. CONCLUSION: Although some patients may still respond to high CDs, the impact of further RIT should be carefully evaluated and other treatment strategies may be warranted.

Heat and chemical stress modulate the expression of the alpha-RYR gene in broiler chickens

The biological cause of Pork Stress syndrome, which leads to PSE (pale, soft, exudative) meat, is excessive release of Ca(2+) ions, which is promoted by a genetic mutation in the ryanodine receptors (RyR) located in the sarcoplasmic reticulum of the skeletal muscle cells. We examined the relationship between the formation of PSE meat under halothane treatment and heat stress exposure in chicken alpha RYR hot spot fragments. Four test groups were compared: 1) birds slaughtered without any treatment, i.e., the control group (C); 2) birds slaughtered immediately after halothane treatment (H); 3) birds slaughtered immediately after heat stress treatment (HS), and 4) birds exposed to halothane and to heat stress (H+HS), before slaughtering. Breast muscle mRNA was extracted, amplified by RT-PCR, and sequenced. PSE meat was evaluated using color determination (L*value). The most common alteration was deletion of a single nucleotide, which generated a premature stop codon, resulting in the production of truncated proteins. The highest incidence of nonsense transcripts came with exposure to halothane; 80% of these abnormal transcripts were detected in H and H+HS groups. As a consequence, the incidence of abnormal meat was highest in the H+HS group (66%). In HS, H, and C groups, PSE meat developed in 60, 50, and 33% of the samples, respectively. Thus, halothane apparently modulates alpha RYR gene expression in this region, and synergically with exposure to heat stress, causes Avian Stress syndrome, resulting in PSE meat in broiler chickens.

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

Background: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the gene which encodes hepatic glycogen synthase, resulting in reduction of glycogen storage in the liver. Case Presentation: Biochemical evaluation as well as direct sequencing of exons and exon-intron boundary regions of the GYS2 gene were performed in a patient presenting fasting hypoglycemia and postprandial hyperglycemia and her parents. The patient was found to be compound heterozygous for one previously reported nonsense mutation (c. 736 C>T; R243X) and a novel frameshift mutation (966_967delGA/insC) which introduces a stop codon 21 aminoacids downstream from the site of the mutation that presumably leads to loss of 51% of the COOH-terminal part of the protein. The glycemia and lactatemia of the parents after an oral glucose tolerance test were evaluated to investigate a possible impact of the carrier status on the metabolic profile. The mother, who presented a positive family history of type 2 diabetes, was classified as glucose intolerant and the father, who did not exhibit metabolic changes after the glucose overload, had an antecedent history of hypoglycemia after moderate alcohol ingestion. Conclusion: The current results expand the spectrum of known mutations in GYS2 and suggest that haploinsufficiency could explain metabolic abnormalities in heterozygous carriers in presence of predisposing conditions.

Ultra-Structural Changes at the Apical Stop Irradiated with CO(2) Laser

Objective: This study evaluated ultra-structural dentine changes at the apical stop after CO(2) laser irradiation used during biomechanical preparation. Background: Most studies evaluating the sealing efficiency of CO(2) lasers have been carried out after apical root canal resections and retro-filling procedures. Methods: Sixty human canines were prepared with #1 to #6 Largo burs. The apical stops were established at 1 mm (n = 30) and 2 mm (n = 30) from the apex. Final irrigation was performed with 1% NaOCl and 15% EDTA followed by 20 ml of distilled and deionized water. Specimens were subdivided into three subgroups (n = 10 for each stop distance): GI-no radiation (n = 20); GII-3W potency (n = 20), GIII-5W potency (n = 20). After preparation, specimens were evaluated by scanning electron microscopy, with ultra-structural changes classified according to a scoring system based on six qualitatively different outcomes. Results: Statistical analysis using the Mann-Whitney test confirmed more intense results for the specimens irradiated at 5 W potency than at 3 W (p<0.0001). The Kruskal-Wallis test indicated that when using the same potencies (3 or 5 W) at 1 and 2 mm from the apex, there were no statistically significant differences in ultra-structural changes. Conclusions: Our results showed that ultra-structural changes ranged from smear layer removal to dentine fusion. As laser potency was increased from 3 to 5 W, ultra-structural changes included extensive fused lava-like areas sealing the apical foramen.

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms` tumor, genital abnormalities and development of early nephropathy. The most frequent WT1 defects in DDS are missense mutations located in exons 8-9. Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild nephropathy with a late onset diagnosed during adolescence. He had ambiguous genitalia at birth. At 4 months of age he underwent nephrectomy (Wilms` tumor) followed by chemotherapy. Ambiguous genitalia were corrected and bilateral gonadectomy was performed. Sequencing of WT1 identified a novel heterozygous mutation (c.742A > T) in exon 4 that generates a premature stop codon (p.K248X). Interestingly, this patient has an unusual DDS nephropathy progression, which reinforces that patients carrying WT1 mutations should have the renal function carefully monitored due to the possibility of late-onset nephropathy.

Novel testis germ cell-specific transcript of the CREB gene contains an alternatively spliced exon with multiple in-frame stop codons.

The gene encoding the cAMP-responsive transcription factor CREB consists of multiple small exons some of which undergo alternative RNA splicing. We describe the finding of a novel transcript of the CREB gene expressed at high levels in the germ cells of the rat testis. The transcript contains an alternatively spliced exon inserted within the sequence encoding the transcriptional transactivation domain of CREB and this exon contains multiple in-frame stop codons. Furthermore, the exon is conserved in both rat and human genes (75% nucleotide identity). Although the function(s) of this RNA or the truncated CREB protein predicted to result from the translation of this unusual transcript is unknown, the high level of expression in the testicular germ cells and remarkable conservation of sequences in rat and human suggests that it may have a unique biological function in these cells.