La resolución de casos abierto, exoneraciones y análisis familiares por medio de la genética avanzada. Aspectos forenses, sociales y eticos.

La especialidad de la Genética forense tiene algo más de un siglo, pero con la incorporación de la denominada prueba del ADN hace casi tres décadas, se ha logrado una eficacia que ha revolucionado no solo la investigación policial y las sentencias jurídicas, si no que ha impactado positivamente a toda la sociedad moderna. En este trabajo se analiza el avance que han supuesto las técnicas de identificación a través del ADN, en situaciones legales que en su momento no fueron resueltas (casos abiertos), en las exoneraciones y en los estudios familiares. Las aplicaciones y consecuencias de la Genética forense molecular o del ADN en estos casos, no solo ha dotado de más prestigio y seguridad a la Administración de la Justicia, si no que ha tenido un notable impacto social y ético. Es nuestra convicción, que tanto los profesionales de la Administración de la Justicia, como la sociedad en su totalidad debemos congratularnos y contribuir de la mejor manera posible a que las herramientas forenses en general y las vinculadas a la genética avanzada, se implementen al máximo nivel lo antes y mejor posible en nuestras instituciones.

Avaliação da velocidade de processamento de processadoras automáticas ultilizado o método "STEP test"

A avaliação do processamento radiográfico utilizando o "STEP test" ("sensitometric test for the evaluation of processing") tem como objetivo a identificação de desvios importantes no sistema processadora-químicos-filmes. Neste tipo de avaliação são estabelecidas as condições ideais para o processamento. Um filme padrão é revelado de acordo com as condições do fabricante, ou seja, com padrão igual a 100. O filme é exposto à luz de um sensitômetro calibrado e os valores dos degraus são avaliados com o uso de um densitômetro, sendo obtida sua curva característica (densidade óptica × degrau). O desvio porcentual máximo deve ser de 20% quando comparado com a curva padrão. Este método é útil na identificação de problemas no processamento radiográfico. Várias processadoras de hospitais públicos/universitários foram avaliadas empregando este método, e verificou-se que aproximadamente 33% das instalações apresentam condições inadequadas de processamento.

Does phylogeographic structure relate to climatic niche divergence? A test using maritime pine (Pinus pinaster Ait.)

Aim To disentangle the effects of environmental and geographical processes driving phylogenetic distances among clades of maritime pine (Pinus pinaster). To assess the implications for conservation management of combining molecular information with species distribution models (SDMs; which predict species distribution based on known occurrence records and on environmental variables). Location Western Mediterranean Basin and European Atlantic coast. Methods We undertook two cluster analyses for eight genetically defined pine clades based on climatic niche and genetic similarities. We assessed niche similarity by means of a principal component analysis and Schoener's D metric. To calculate genetic similarity, we used the unweighted pair group method with arithmetic mean based on Nei's distance using 266 single nucleotide polymorphisms. We then assessed the contribution of environmental and geographical distances to phylogenetic distance by means of Mantel regression with variance partitioning. Finally, we compared the projection obtained from SDMs fitted from the species level (SDMsp) and composed from the eight clade-level models (SDMcm). Results Genetically and environmentally defined clusters were identical. Environmental and geographical distances explained 12.6% of the phylogenetic distance variation and, overall, geographical and environmental overlap among clades was low. Large differences were detected between SDMsp and SDMcm (57.75% of disagreement in the areas predicted as suitable). Main conclusions The genetic structure within the maritime pine subspecies complex is primarily a consequence of its demographic history, as seen by the high proportion of unexplained variation in phylogenetic distances. Nevertheless, our results highlight the contribution of local environmental adaptation in shaping the lower-order, phylogeographical distribution patterns and spatial genetic structure of maritime pine: (1) genetically and environmentally defined clusters are consistent, and (2) environment, rather than geography, explained a higher proportion of variation in phylogenetic distance. SDMs, key tools in conservation management, better characterize the fundamental niche of the species when they include molecular information.

Large Break Blowdown Test Facility Study

Työn tarkoituksena on kerätä yhteen tiedot kaikista maailmalta löytyvistä ison LOCA:n ulospuhallusvaiheen tutkimiseen käytetyistä koelaitteistoista. Työn tarkoituksena on myös antaa pohjaa päätökselle, onko tarpeellista rakentaa uusi koelaitteisto nesterakenne-vuorovaikutuskoodien laskennan validoimista varten. Ennen varsinaisen koelaitteiston rakentamista olisi tarkoituksenmukaista myös rakentaa pienempi pilottikoelaitteisto, jolla voitaisiin testata käytettäviä mittausmenetelmiä. Sopivaa mittausdataa tarvitaan uusien CFD-koodien ja rakenneanalyysikoodien kytketyn laskennan validoimisessa. Näitä koodeja voidaan käyttää esimerkiksi arvioitaessa reaktorin sisäosien rakenteellista kestävyyttä ison LOCA:n ulospuhallusvaiheen aikana. Raportti keskittyy maailmalta löytyviin koelaitteistoihin, uuden koelaitteiston suunnitteluperusteisiin sekä aiheeseen liittyviin yleisiin asioihin. Raportti ei korvaa olemassa olevia validointimatriiseja, mutta sitä voi käyttää apuna etsittäessä validointitarkoituksiin sopivaa ison LOCA:n ulospuhallusvaiheen koelaitteistoa.

Clinical utility of a molecular test in adjuvant treatment decision making in women with endocrine-sensitive early stage breast cancer: a retrospective, single center one year experience

Background. Molecular tests for breast cancer (BC) risk assessment are reimbursed by health insurances in Switzerland since the beginning of year 2015. The main current role of these tests is to help oncologists to decide about the usefulness of adjuvant chemotherapy in patients with early stage endocrine-sensitive and human epidermal growth factor receptor 2 (HER2)-negative BC. These gene expression signatures aim at predicting the risk of recurrence in this subgroup. One of them (OncotypeDx/OT) also predicts distant metastases rate with or without the addition of cytotoxic chemotherapy to endocrine therapy. The clinical utility of these tests -in addition to existing so-called "clinico-pathological" prognostic and predictive criteria (e.g. stage, grade, biomarkers status)-is still debated. We report a single center one year experience of the use of one molecular test (OT) in clinical decision making. Methods. We extracted from the CHUV Breast Cancer Center data base the total number of BC cases with estrogen-receptor positive (ER+), HER2-negative early breast cancer (node negative (pN0) disease or micrometastases in up to 3 lymph nodes) operated between September 2014 and August 2015. For the cases from this group in which a molecular test had been decided by the tumor board, we collected the clinicopathologic parameters, the initial tumor board decision, and the final adjuvant systemic therapy decision. Results. A molecular test (OT) was done in 12.2% of patients with ER + HER2 negative early BC. The median age was 57.4 years and the median invasive tumor size was 1.7 cm. These patients were classified by ODX testing (Recurrence Score) into low-, intermediate-, and high risk groups, respectively in 27.2%, 63.6% and 9% of cases. Treatment recommendations changed in 18.2%, predominantly from chemotherapyendocrine therapy to endocrine treatment alone. Of 8 patients originally recommended chemotherapy, 25% were recommended endocrine treatment alone after receiving the Recurrence Score result. Conclusions. Though reimbursed by health insurances since January 2015, molecular tests are used moderately in our institution as per the decision of the multidisciplinary tumor board. It's mainly used to obtain a complementary confirmation supporting the decision of no chemotherapy. The OncotypeDx Recurrence Score results were in the intermediate group in 66% of the 9 tested cases but contributed to avoid chemotherapy in 2 patients during the last 12 months.

Ability of physicians to diagnose influenza and usefulness of a rapid influenza antigen test in febrile returning travelers: A randomized controlled trial.

BACKGROUND: Fever is a frequent cause of medical consultation among returning travelers. The objectives of this study were to assess whether physicians were able to identify patients with influenza and whether the use of an influenza rapid diagnostic test (iRDT) modified the clinical management of such patients. METHODS: Randomized controlled trial conducted at 2 different Swiss hospitals between December 2008 and November 2012. Inclusion criteria were 1) age ≥18 years, 2) documented fever of ≥38 °C or anamnestic fever + cough or sore throat within the last 4 days, 3) illness occurring within 14 days after returning from a trip abroad, 4) no definitive alternative diagnosis. Physicians were asked to estimate the likelihood of influenza on clinical grounds, and a single nasopharyngeal swab was taken. Thereafter patients were randomized into 2 groups: i) patients with iRDT (BD Directigen A + B) performed on the nasopharyngeal swab, ii) patients receiving usual care. A quantitative PCR to detect influenza was done on all nasopharyngeal swabs after the recruitment period. Clinical management was evaluated on the basis of cost of medical care, number of X-rays requested and prescription of anti-infective drugs. RESULTS: 100 eligible patients were referred to the investigators. 93 patients had a naso-pharyngeal swab for a PCR and 28 (30%) swabs were positive for influenza. The median probability of influenza estimated by the physician was 70% for the PCR positive cases and 30% for the PCR negative cases (p < 0.001). The sensitivity of the iRDT was only 20%, and specificity 100%. Mean medical cost for the patients managed with iRDT and without iRDT were USD 581 (95%CI 454-707) and USD 661 (95%CI 522-800) respectively. 14/60 (23%) of the patients managed with iRDT were prescribed antibiotics versus 13/33 (39%) in the control group (p = 0.15). No patient received antiviral treatment. CONCLUSION: Influenza was a frequent cause of fever among these febrile returning travelers. Based on their clinical assessment, physicians had a higher level of suspicion for influenza in PCR positive cases. The iRDT used in this study showed a disappointingly low sensitivity and can therefore not be recommended for the management of these patients. TRIAL REGISTRATION: ClinicalTrials.gov NCT00821626.

Test automation of digital mammography device

Testing of a complex software is time consuming. Automated tools are available quite a lot for desktop applications, but for embedded systems a custom-made tool is required Building a complete test framework is a complicated task. Therefore, the test platform was built on top of an already existing tool, CANoe. CANoe is a tool for CAN bus analysis and node simulation. The functionality of CANoe was extended with LabVIEW DLL. The LabVIEW software was used for simulating hardware components of the embedded device As a result of the study, a platform was created where tests could be automated. Of the current test plan, 10 percent were automated and up to 60 percent could be automated with the current functionality.

Evaluación de la efectividad de las Técnicas de Activación Muscular® en la resolución de la fasciosis plantar en corredores habituales: ensayo clínico aleatorizado.

Pregunta clínica de investigación: ¿es efectiva la Técnica de Activación Muscular® (MAT®) en la resolución de la fasciosis plantar (FP) en personas corredoras habituales? Objetivo: determinar si la terapia combinada mediante ejercicios de MAT® mejora los resultados obtenidos con el procedimiento convencional en el tratamiento de la FP en personas deportistas en la ciudad de Lleida. Metodología: En este ensayo clínico experimental ha participado un total de 264 pacientes, corredores habituales con FP de más de un mes y menos de un año de evolución, que han sido derivados por sus médicos de atención primaria. La muestra se ha dividido de forma aleatoria en dos grupos, uno control que sigue un protocolo convencional (educación sanitaria, AINEs y estiramietos) y el grupo experimental, al que se le ha aplicado la intervención de MAT®. La duración del estudio es de dos años, y cada intervención dura 4 semanas con un seguimiento a 6 y 12 meses. Un analista externo es el encargado del análisis de la información mediante el programa SPSS 15.0. Los resultados se miden mediante las variables de: dolor a la presión, grosor de la aponeurosis, percepción del estado de los pies, rango de movimiento articular (RMA) de tobillo y 1era metetarsofalángica (MTF) y tiempo de vuelta a la carrera entre otras.