Importância Prognóstica do Doppler Tecidular nos Doentes com Miocardiopatia Dilatada

Previous studies have shown that a ratio of early transmitral flow velocity to early diastolic velocity of the mitral annulus (E/E') of > 15, obtained by tissue Doppler imaging (TDI), correlates with left ventricular filling pressure. OBJECTIVE: The aim of our study was to assess whether E/E' provides prognostic information in patients with dilated cardiomyopathy. METHODS: We studied 33 patients with dilated cardiomyopathy and mean ejection fraction of 31%. All the patients underwent routine two-dimensional and Doppler echocardiographic examination and TDI to determine early peak velocity of the mitral annulus. Pro-B-type natriuretic peptide (pro-BNP) and peak oxygen consumption (VO2max) were also measured. Patients were divided into two groups according to the value of E/E': Group I (n = 15 patients) with E/E' > or = 15 and Group II (n = 18 patients) with E/E' < 15. Patients were followed for 12+/-4 months; new hospital admission due to heart failure, heart transplantation and death were considered as cardiac events. RESULTS: There were significant differences between the two groups in conventional two-dimensional echocardiographic measurements (dimensions and ejection fraction) and Doppler parameters (mitral inflow). With regard to mitral annular velocities obtained by TDI at two different points (septum and lateral wall), the E', A' and S' velocities differed significantly between the two groups, with lower velocities in Group I. Systolic velocity measured in the lateral portion of the mitral annulus showed the most significant difference: Group I - 4.46 cm/sec versus Group II - 7.19 cm/sec, p < 0.00001. Pro-BNP was 5622 pg/ml in Group I, and 1254 pg/ml in Group II, p = 0.004. VO2 max was significantly different between the two groups: Group I - 17.6 ml/kg/min versus Group II - 22.8 ml/kg/min, p = 0.004. During follow-up, events were more common in Group I, with 9 patients (60%) having events, while in Group II, the event rate was 11.1% (2 patients), p = 0.004. CONCLUSION: The ratio of early transmitral flow velocity to early diastolic velocity of the mitral annulus is a powerful predictor of clinical outcome. Lower velocities of mitral annulus on TDI are expected in patients with E/E' > or = 15. Systolic velocities of under 5 cm/sec measured in the lateral portion of the mitral annulus appeared to be strongly related to prognosis.

Clinical and epidemiological aspects of HTLV-II infection in São Paulo, Brazil: presence of Tropical Spastic Paraparesis/HTLV-Associated Myelopathy (TSP/HAM) simile diagnosis in HIV-1-co-infected subjects

In this study, the epidemiological and clinical features observed in solely HTLV-II-infected individuals were compared to those in patients co-infected with HIV-1. A total of 380 subjects attended at the HTLV Out-Patient Clinic in the Institute of Infectious Diseases "Emilio Ribas" (IIER), São Paulo, Brazil, were evaluated every 3-6 months for the last seven years by infectious disease specialists and neurologists. Using a testing algorithm that employs the enzyme immuno assay, Western Blot and polymerase chain reaction, it was found that 201 (53%) were HTLV-I positive and 50 (13%) were infected with HTLV-II. Thirty-seven (74%) of the HTLV-II reactors were co-infected with HIV-1. Of the 13 (26%) solely HTLV-II-infected subjects, urinary tract infection was diagnosed in three (23%), one case of skin vasculitis (8%) and two cases of lumbar pain and erectile dysfunction (15%), but none myelopathy case was observed. Among 37 co-infected with HIV-1, four cases (10%) presented with tropical spastic paraparesis/HTLV-associated myelopathy (TSP/HAM) simile. Two patients showed paraparesis as the initial symptom, two cases first presented with vesical and erectile disturbances, peripheral neuropathies were observed in other five patients (13%), and seven (19%) patients showed some neurological signal or symptoms, most of them with lumbar pain (five cases). The results obtained suggest that neurological manifestations may be more frequent in HTLV-II/HIV-1-infected subjects than those infected with HTLV-II only.

Induction of phagocytic activity and nitric-oxide production in natural populations of Trypanosoma Cruzi I and II from the state of Paraná, Brazil

Twelve strains of Trypanosoma cruzi isolated from wild reservoirs, triatomines, and chronic chagasic patients in the state of Paraná, southern Brazil, and classified as T. cruzi I and II, were used to test the correlation between genetic and biological diversity. The Phagocytic Index (PI) and nitric-oxide (NO) production in vitro were used as biological parameters. The PI of the T. cruzi I and II strains did not differ significantly, nor did the PI of the T. cruzi strains isolated from humans, triatomines, or wild reservoirs. There was a statistical difference in the inhibition of NO production between T. cruzi I and II and between parasites isolated from humans and the strains isolated from triatomines and wild reservoirs, but there was no correlation between genetics and biology when the strains were analyzed independently of the lineages or hosts from which the strains were isolated. There were significant correlations for Randomly Amplified Polymorphic Deoxyribonucleic acid (RAPD) and biological parameters for T. cruzi I and II, and for humans or wild reservoirs when the lineages or hosts were considered individually.

UJI Navigation Network, Development of a pedestrian spatial network within the University Jaume I of Castellón (Spain)

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301–302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different countries. Our results show that 55% (11 of 20) of PROP1 alleles have the 301–302delAG deletion in familial CPHD cases. Interestingly, although only 12% (5 of 42) of the PROP1 alleles of our 21 sporadic cases were 301–302delAG, the frequency of this allele (in 20 of 21 of the sporadic subjects given TRH stimulation tests) was 50% (3 of 6) and 0% (0 of 34) in the CPHD cases with pituitary and hypothalamic defects, respectively. Using whole genome radiation hybrid analysis, we localized the PROP1 gene to the distal end of chromosome 5q and identified a tightly linked polymorphic marker, D5S408, which can be used in segregation studies. Analysis of this marker in affected subjects with the 301–302delAG deletion suggests that rather than being inherited from a common founder, the 301–302delAG may be a recurring mutation.

The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301-302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different countries. Our results show that 55% (11 of 20) of PROP1 alleles have the 301-302delAG deletion in familial CPHD cases. Interestingly, although only 12% (5 of 42) of the PROP1 alleles of our 21 sporadic cases were 301-302delAG, the frequency of this allele (in 20 of 21 of the sporadic subjects given TRH stimulation tests) was 50% (3 of 6) and 0% (0 of 34) in the CPHD cases with pituitary and hypothalamic defects, respectively. Using whole genome radiation hybrid analysis, we localized the PROP1 gene to the distal end of chromosome 5q and identified a tightly linked polymorphic marker, D5S408, which can be used in segregation studies. Analysis of this marker in affected subjects with the 301-302delAG deletion suggests that rather than being inherited from a common founder, the 301-302delAG may be a recurring mutation.

Unstabilised rammed earth: characterization of material collected from old constructions in South Portugal and comparison to normative requirements

International Journal of Architectural Heritage, 8: 185–212, 2014

Search for production of vector-like quark pairs and of four top quarks in the lepton-plus-jets final state in pp collisions at root 8=8 TeV with the ATLAS detector

A search for pair production of vector-like quarks, both up-type (T) and down-type (B), as well as for four-top-quark production, is presented. The search is based on pp collisions at s√=8 TeV recorded in 2012 with the ATLAS detector at the CERN Large Hadron Collider and corresponding to an integrated luminosity of 20.3 fb−1. Data are analysed in the lepton-plus-jets final state, characterised by an isolated electron or muon with high transverse momentum, large missing transverse momentum and multiple jets. Dedicated analyses are performed targeting three cases: a T quark with significant branching ratio to a W boson and a b-quark (TT¯→Wb+X), and both a T quark and a B quark with significant branching ratio to a Higgs boson and a third-generation quark (TT¯→Ht+X and BB¯→Hb+X respectively). No significant excess of events above the Standard Model expectation is observed, and 95% CL lower limits are derived on the masses of the vector-like T and B quarks under several branching ratio hypotheses assuming contributions from T→Wb, Zt, Ht and B→Wt, Zb, Hb decays. The 95% CL observed lower limits on the T quark mass range between 715 GeV and 950 GeV for all possible values of the branching ratios into the three decay modes, and are the most stringent constraints to date. Additionally, the most restrictive upper bounds on four-top-quark production are set in a number of new physics scenarios.

Identification and energy calibration of hadronically decaying tau leptons with the ATLAS experiment in pp collisions at s√=8 TeV

This paper describes the trigger and offline reconstruction, identification and energy calibration algorithms for hadronic decays of tau leptons employed for the data collected from pp collisions in 2012 with the ATLAS detector at the LHC center-of-mass energy s√ = 8 TeV. The performance of these algorithms is measured in most cases with Z decays to tau leptons using the full 2012 dataset, corresponding to an integrated luminosity of 20.3 fb−1. An uncertainty on the offline reconstructed tau energy scale of 2% to 4%, depending on transverse energy and pseudorapidity, is achieved using two independent methods. The offline tau identification efficiency is measured with a precision of 2.5% for hadronically decaying tau leptons with one associated track, and of 4% for the case of three associated tracks, inclusive in pseudorapidity and for a visible transverse energy greater than 20 GeV. For hadronic tau lepton decays selected by offline algorithms, the tau trigger identification efficiency is measured with a precision of 2% to 8%, depending on the transverse energy. The performance of the tau algorithms, both offline and at the trigger level, is found to be stable with respect to the number of concurrent proton--proton interactions and has supported a variety of physics results using hadronically decaying tau leptons at ATLAS.

Analysis of events with b-jets and a pair of leptons of the same charge in pp collisions at √s=8 TeV with the ATLAS detector

An analysis is presented of events containing jets including at least one b-tagged jet, sizeable missing transverse momentum, and at least two leptons including a pair of the same electric charge, with the scalar sum of the jet and lepton transverse momenta being large. A data sample with an integrated luminosity of 20.3 fb−1 of pp collisions at s√=8 TeV recorded by the ATLAS detector at the Large Hadron Collider is used. Standard Model processes rarely produce these final states, but there are several models of physics beyond the Standard Model that predict an enhanced rate of production of such events; the ones considered here are production of vector-like quarks, enhanced four-top-quark production, pair production of chiral b′-quarks, and production of two positively charged top quarks. Eleven signal regions are defined; subsets of these regions are combined when searching for each class of models. In the three signal regions primarily sensitive to positively charged top quark pair production, the data yield is consistent with the background expectation. There are more data events than expected from background in the set of eight signal regions defined for searching for vector-like quarks and chiral b′-quarks, but the significance of the discrepancy is less than two standard deviations. The discrepancy reaches 2.5 standard deviations in the set of five signal regions defined for searching for four-top-quark production. The results are used to set 95% CL limits on various models.

Host factors influencing outcome of Leishmania mexicana infection in mice

Studies were undertaken to determine the influence of several host-related parameters on the course of Leishmania mexicana mexicana infection in inbred C57B1/10 (C57) and outbred albino (OA) mice. An important influence of the following variables was demonstrated: Host strain: lesions in C57s were significantly less variable in size and outcome than those of OAs under the conditions studied and even when persistent developed at a slower rate. Host age: Subcutanous injection of 2 x 10 [raised to the power of 4] to 2 x 10 [raised to the power of 6] amastigotes into the dorsum of the rear paw produced significantly larger lesions which healed more slowly in 2 mo. old C57s than in 4 mo. old mice. Reduced healing ability was observed in older (8 mo. old) female C57s, and low mortality occurred after 15 months of age in infected mice of both sexes. Lesion site: Following amastigote infection, lesions in paws of most C57s regress within 15 - 25 wks. In contrast, perinasal legions produced with the same number of parasites tend to persist for the life of the animal as slowly spreading irregular nodules. In animals infected in both locations, each lesion site behaves similarly to that in singly infected animals of the same age, i.e. regression in the two sites is independent. Our results indicate that while host strain may strongly influence infection outcoem, such variables as lesion site and host age play important roles and may explain, in part, reported inter- and intraexperimental variability in responses of murine hosts to a given leishmanial parasite.

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes. RESULTS: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001). CONCLUSION: Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems.

L' Aprenentatge basat en problemes a través de casos clínics simulats. Una proposta metodològica de disseny i avaluació docent

RESUM Les exigències actuals de la professió de d’infermeria requereixen que la docència vagi orientada a interrelacionar els diferents rols a desenvolupar enla pràctica diària, per adquirir experiència en l’aprenentatge i així augmentar la qualitat de les cures d’infermeria. Per assolir aquest objectiu és important l’aprenentatge basat enproblemes. Aquest pretén en primer lloc que els estudiants aprenguin allò que permet desenvolupar-se enla vida professional de la manera més natural possible a partir d’una idea clara i profunda de l’evidència sobre la que s’ha d’actuar. Amb aquesta finalitat es vandissenyar casos clínics amb uns objectius que requerien la integració de coneixements, actituds i valors, en diferents fases a desenvolupar en un període de temps predeterminat. També ens vam proposar una estratègia docent que permetés a l’estudiant incorporar el coneixement científic que dóna suport a la pràctica assistencial per aproximar teoria i pràctica. Es pretén que els estudiants busquin una resposta basada en la millor evidència científica disponible, per prendre una decisió respecte a les cures del pacient. Els objectius de l’estudi són: Avaluar globalment l’aprenentatge basat en la simulació de casos Avaluar com els estudiants valoren la integració del model d’infermeria i del procés d’atenció en l’aprenentatge basat en la simulació de casos. Valorar les sensacions percebudes per l’estudiant durant la simulació del cas. Valorar l’actitud d el’estudiant en relació a la incorporació de l’evidència científica per una millora en la pràctica clínica. Avaluar el grau de dificultat manifestat per l’estudiant en relació al procés de documentació. Avaluar la idonietat de l’argumentació i la decisió de l’estudiant a la pregunta formulada en el cas clínic. Metodologia: L’assignatura d’Infermeria Medicoquirúrgica. Adult I del Departament d’Infermeria de la Universitat de Vic, va iniciar una experiència d’aprenentatge basat en la resolució de problemes, amb estudiants de 2on curs. Les professores responsables dels seminaris van realitzar una avaluació de l’experiència a través d’una enquesta. Aquesta es responia al cap d’un mes de la simulació al laboratori, quan es contrastaven els resultats obtinguts en aquesta entre professores i estudiants després de visualitzar la gravació feta durant el mateix. En el context del seminari de simulació de casos, es va introduir una pregunta/problema, a partir de la que els estudiants, en grup, havien de documentar-se amb el suport d’una guia. Per valorar l’actitud davant aquesta pregunta/problema es va dissenyar un qustionari tipus Likert. L’avaluació del grau de dificultat s’ha registrat a través d’unes escales de puntuació. Per a l’avaluació de la decisió presa, es van valorar les síntesis resum entregades en els treballs escrits pels diferents grups. Resultats: La realització de la simulació en el laboratori va ser avaluada per un alt percentatge d’estudiants (68,8%) amb puntuacions entre 6 i 8 mentre que un 26,6% la van situar en tre 9 i 10, només un 4,7 % la van puntuar amb 5. La integració del model d’infermeria va ser valorada pel 86% amb una puntuació entre 7 i 10. La valoració global de la simulació va ser qualificada pels estudiants amb una puntuació de 8 (34,4%) seguida d’un 28,1% amb una consideració de 7. Un 7,2% van puntuar entre 9 i 10. El 93,3% van assegurar que conèixer les fonts documentals els serviria per millorar l’assistència, el 86,7% esperen obtenir arguments sòlids respecte les seves desicions si la documentació consultada és de qualitat. Un 77,8% dels estudiants consideren estar més satisfets al saber incorporar la presa de decisions basada en evidències. Respecte el grau de dificultat en el procés de documentació la dificultat més gran la presenten en com buscar en les bases de dades de referències bibliogràfiques. Conclusions: L’aprenentatge dels estudiants a través de la simulació de casos és una estratègia vàlida que l’estudiant valora positivament al mateix temps que permet desenvolupar habilitats per a la pràctica professional. L’estratègia docent dissenyada per integrar les evidències en la presa de decisions es considera positiva, no obstant, després d’analitzar els resultats, s’han de modificar alguns aspectes per a la seva millora; tutoritzar per a millorar el procés de documentació i incidir més en la crítica i reflexió, de manera que les troballes de la investigació siguin canalitzades cap a la pràctica.

Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases.

Tetrasomy, pentasomy, and hexasomy 8 (polysomy 8) are relatively rare compared to trisomy 8. Here we report on a series of 12 patients with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), or myeloproliferative disorder (MPD) associated with polysomy 8 as detected by conventional cytogenetics and fluorescence in situ hybridization (FISH). In an attempt to better characterize the clinical and hematological profile of this cytogenetic entity, our data were combined with those of 105 published patients. Tetrasomy 8 was the most common presentation of polysomy 8. In 60.7% of patients, polysomy 8 occurred as part of complex changes (16.2% with 11q23 rearrangements). No cryptic MLL rearrangements were found in cases in which polysomy 8 was the only karyotypic change. Our study demonstrates the existence of a polysomy 8 syndrome, which represents a subtype of AML, MDS, and MPD characterized by a high incidence of secondary diseases, myelomonocytic or monocytic involvement in AML and poor overall survival (6 months). Age significantly reduced median survival, but associated cytogenetic abnormalities did not modify it. Cytogenetic results further demonstrate an in vitro preferential growth of the cells with a high level of aneuploidy suggesting a selective advantage for polysomy 8 cells.

Prognostic value of sentinel node biopsy in 327 prospective melanoma patients from a single institution

AIM: To confirm the accuracy of sentinel node biopsy (SNB) procedure and its morbidity, and to investigate predictive factors for SN status and prognostic factors for disease-free survival (DFS) and disease-specific survival (DSS). MATERIALS AND METHODS: Between October 1997 and December 2004, 327 consecutive patients in one centre with clinically node-negative primary skin melanoma underwent an SNB by the triple technique, i.e. lymphoscintigraphy, blue-dye and gamma-probe. Multivariate logistic regression analyses as well as the Kaplan-Meier were performed. RESULTS: Twenty-three percent of the patients had at least one metastatic SN, which was significantly associated with Breslow thickness (p<0.001). The success rate of SNB was 99.1% and its morbidity was 7.6%. With a median follow-up of 33 months, the 5-year DFS/DSS were 43%/49% for patients with positive SN and 83.5%/87.4% for patients with negative SN, respectively. The false-negative rate of SNB was 8.6% and sensitivity 91.4%. On multivariate analysis, DFS was significantly worsened by Breslow thickness (RR=5.6, p<0.001), positive SN (RR=5.0, p<0.001) and male sex (RR=2.9, p=0.001). The presence of a metastatic SN (RR=8.4, p<0.001), male sex (RR=6.1, p<0.001), Breslow thickness (RR=3.2, p=0.013) and ulceration (RR=2.6, p=0.015) were significantly associated with a poorer DSS. CONCLUSION: SNB is a reliable procedure with high sensitivity (91.4%) and low morbidity. Breslow thickness was the only statistically significant parameter predictive of SN status. DFS was worsened in decreasing order by Breslow thickness, metastatic SN and male gender. Similarly DSS was significantly worsened by a metastatic SN, male gender, Breslow thickness and ulceration. These data reinforce the SN status as a powerful staging procedure