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Análise de variantes alélicas no gene Armadillo Repeat Containing 5 (ARMC5) em pacientes com incidentaloma da suprarrenal / Analysis of the allelic variants of the armadillo repeat containing 5 (ARMC5) gene in patients with adrenal incidentalomasMariani, Beatriz Marinho de Paula 05 July 2019 (has links)
Análise de variantes alélicas no gene Armadillo Repeat Containing 5 (ARMC5) em pacientes com incidentaloma da suprarrenal identificamos 16 pacientes carreadores da mutação, a partir de dois irmãos inicialmente investigados. Aproximadamente 30% dos membros afetados desta genealogia, apresentavam somente uma suprarrenal acometida e a suprarrenal contra-lateral absolutamente normal ou discretamente espessada. Esta observação nos infere que a hiperplasia macronodular da PMAH pode ocorrer de forma assincrônica e dificultar aprincipio o seu diagnostico. A incidência de nódulos unilaterais identificados em exame de imagens na pratica clinica é muito elevada (1,4 - 2,9%, podendo chegar a 10% em pacientes com idade a cima de 70 anos) os denominados incidentalomas suprarrenais. Além disso, a grande maioria dos pacientes com nódulos suprarrenais apresentam alguma autonomia da secreção do cortisol. Considerando estes aspectos, nos propomos a investigar se os incidentalomas suprarrenais unilaterais com alguma autonomia da secreção do cortisol poderiam fazer parte do espectro de apresentação da PMAH. Nosso trabalho tem como foco analisar a frequência das variantes alélicas do ARMC5 em uma coorte multicêntrica de pacientes com nódulos suprarrenais incidentais e autonomia da secreção do cortisol. O esclarecimento da frequência da PMAH pode nos direcionar a uma melhor pratica clinica e cuidados com os pacientes / Primary macronodular adrenal hyperplasia (PMAH) was described in 1964 by Kirschner et al, and is considered a rare cause of endogenous ACTH-independent Cushing\'s syndrome (CS), usually associated with bilateral adrenal nodules. The clinical presentation of the patients is heterogeneous, ranging from subclinical to overt Cushing\'s syndrome, with all its characteristics. The cortisol secretion pattern, after the 1 mg dexamethasone overnight suppression test, identifies the intensity of cortisol secretion autonomy, ie, serum cortisol concentrations above 1.8 ug / dL and up to 5 ug / dL , characterize a possible autonomous cortisol secretion and above this value (5 ug / dL) an autonomous cortisol secretion. Patients are generally diagnosed with PMAH when undergoing ACTH-independent endogenous hypercortisolism investigation or, more frequently, during the investigation of bilateral adrenal incidentalomas and less likely in patients with metabolic syndrome associated with meningiomas of the central nervous system, since these are very prevalence in patients with PMAH. Bilateral adrenal involvement, along with the description in the literature of several PMAH-affected family relatives, has already indicated a genetic cause involved in the pathophysiology of this intriguing disease. In 2013, two studies, one Brazilian and one Franch, using distinct methodologies, identified germline mutations in ARMC5 as the major genetic cause of PMAH. The largest genealogy published so far was that of a Brazilian family, with 5 generations in which we identified 16 patients, carriers of the mutation, from two siblings initially investigated. Approximately 30% of the affected members of this genealogy had only one adrenal afected with the contralateral gland absolutely normal or discretely thickened. This observation infers us that the macronodular hyperplasia of PMAH can occur in an asynchronous way and make it difficult to diagnose it. The incidence of unilateral nodules identified in clinical imaging is very high (1.4-2.9%, and may reach 10% in patients over the age of 70), the so-called adrenal incidentalomas. In addition, the vast majority of patients with adrenal nodules have some autonomy in cortisol secretion. Considering these aspects, we propose to investigate whether unilateral adrenal incidentalomas, with some autonomy of cortisol secretion, could be part of the presentation spectrum of PMAH. Our work focuses on the frequency of allelic variants of ARMC5 in a multicentric cohort of patients with incidental adrenal nodules and autonomy of cortisol secretion. Clarifying the frequency of PMAH may lead to better clinical practice and patient care
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Adult education, popular culture, and women's identity development: self-directed learning with The AvengersWright, Robin Redmon 02 June 2009 (has links)
The purpose of this study was to investigate the impact of popular culture, especially prime-time television, on women learner-viewers’ identity development. More specifically, this study explores one specific television show, the 1962-64 Cathy Gale episodes of The Avengers as a portal to adult learning. It further explores the ways in which television, as a form of public pedagogy, can help facilitate the formation of a critical or feminist identity among adult learner viewers. The research questions guiding this study were: 1) How and what did women learn from watching The Avengers? 2) How did women incorporate that learning into their lives and into their identities? and 3) How did women interpret and accommodate the feminist example of Cathy Gale? Data for this study was collected over a two-and-a-half year period. Data consisted of interviews with contemporaneous viewers of the Cathy Gale Avengers episodes, interviews with scriptwriters and the actor who played Cathy Gale, Honor Blackman, numerous documents from statistics obtained at the British Film Institute, fanzines, and newspaper articles of the period. Analysis revealed that in particular historical times and situations television viewing can become a form of public pedagogy, facilitating transformational learning in adult viewers that produces lasting, life-changing effects. The investigation revealed that not only did biologically-born women incorporate Cathy Gale’s feminist example into their identities and actions, but biologically born males whose core gender identity was female did also. This dissertation is written in article format. Each of the six sections has been designed as stand-alone pieces to aid accessibility and enhance readers’ engagement with the study.
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Facilitating Lexical Acquisition in Beginner Learners of Italian through Popular SongNatale Rukholm, Vanessa 31 August 2011 (has links)
This study examines the effects of Song and Involvement Load on the acquisition and retention of lexical items by beginner learners of Italian. Lexical acquisition is investigated via an incidental learning experiment that is based on the premise that growth in L2 vocabulary results from rehearsal and repeated exposure to lexical items in a variety of contexts. More specifically, the study hypothesizes that Song contributes to subvocal rehearsal, a mechanism that facilitates the retention of phonological information. In addition, the study hypothesizes that Involvement Load, as posited by Laufer and Hulstijn (2001), contributes to retention through “elaborate processing”(Craik & Tulving, 1975) of lexical items.
In order to evaluate participants‟ lexical acquisition, an experiment with pretest/posttest design was carried out. Participants were divided into one of five groups consisting of a Control Group and four treatment groups. Treatment groups were exposed to a Song either in a sung condition or read as a poem (i.e. without music) while the Control Group completed only the pretest and posttests. Treatment groups also completed lexical tasks designed with either low or high levels of Involvement Load. The pretest and posttests (administered at four and eight weeks respectively after the pretest) were based on Paribakht and Wesche‟s (1996) Vocabulary
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Knowledge Scale. It was hypothesized that in the case of both short-term acquisition (four weeks after the pretest) and retention (eight weeks thereafter) (i) participants exposed to Song would obtain higher scores than participants only exposed to the lyrics; (ii) participants completing High Involvement tasks would score higher than participants completing Low Involvement tasks; and (iii) the effects of Song would be greater than the effects of Involvement Load on test scores.
Results indicated that at both posttests, participants exposed to Song obtained higher scores than participants only exposed to lyrics (p=0.004). Additionally, participants carrying out High Involvement tasks scored higher than participants carrying out Low Involvement tasks (p=0.017). However, a comparison of the strength of the effects of Song and Involvement Load on acquisition and retention of target items yielded inconclusive results (p=.383).
The validation of many of the hypotheses suggests that song and involvement load are effective in the acquisition and retention of L2 lexical items and should be implemented in the L2 curriculum.
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Facilitating Lexical Acquisition in Beginner Learners of Italian through Popular SongNatale Rukholm, Vanessa 31 August 2011 (has links)
This study examines the effects of Song and Involvement Load on the acquisition and retention of lexical items by beginner learners of Italian. Lexical acquisition is investigated via an incidental learning experiment that is based on the premise that growth in L2 vocabulary results from rehearsal and repeated exposure to lexical items in a variety of contexts. More specifically, the study hypothesizes that Song contributes to subvocal rehearsal, a mechanism that facilitates the retention of phonological information. In addition, the study hypothesizes that Involvement Load, as posited by Laufer and Hulstijn (2001), contributes to retention through “elaborate processing”(Craik & Tulving, 1975) of lexical items.
In order to evaluate participants‟ lexical acquisition, an experiment with pretest/posttest design was carried out. Participants were divided into one of five groups consisting of a Control Group and four treatment groups. Treatment groups were exposed to a Song either in a sung condition or read as a poem (i.e. without music) while the Control Group completed only the pretest and posttests. Treatment groups also completed lexical tasks designed with either low or high levels of Involvement Load. The pretest and posttests (administered at four and eight weeks respectively after the pretest) were based on Paribakht and Wesche‟s (1996) Vocabulary
iii
Knowledge Scale. It was hypothesized that in the case of both short-term acquisition (four weeks after the pretest) and retention (eight weeks thereafter) (i) participants exposed to Song would obtain higher scores than participants only exposed to the lyrics; (ii) participants completing High Involvement tasks would score higher than participants completing Low Involvement tasks; and (iii) the effects of Song would be greater than the effects of Involvement Load on test scores.
Results indicated that at both posttests, participants exposed to Song obtained higher scores than participants only exposed to lyrics (p=0.004). Additionally, participants carrying out High Involvement tasks scored higher than participants carrying out Low Involvement tasks (p=0.017). However, a comparison of the strength of the effects of Song and Involvement Load on acquisition and retention of target items yielded inconclusive results (p=.383).
The validation of many of the hypotheses suggests that song and involvement load are effective in the acquisition and retention of L2 lexical items and should be implemented in the L2 curriculum.
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Adult education, popular culture, and women's identity development: self-directed learning with The AvengersWright, Robin Redmon 02 June 2009 (has links)
The purpose of this study was to investigate the impact of popular culture, especially prime-time television, on women learner-viewers’ identity development. More specifically, this study explores one specific television show, the 1962-64 Cathy Gale episodes of The Avengers as a portal to adult learning. It further explores the ways in which television, as a form of public pedagogy, can help facilitate the formation of a critical or feminist identity among adult learner viewers. The research questions guiding this study were: 1) How and what did women learn from watching The Avengers? 2) How did women incorporate that learning into their lives and into their identities? and 3) How did women interpret and accommodate the feminist example of Cathy Gale? Data for this study was collected over a two-and-a-half year period. Data consisted of interviews with contemporaneous viewers of the Cathy Gale Avengers episodes, interviews with scriptwriters and the actor who played Cathy Gale, Honor Blackman, numerous documents from statistics obtained at the British Film Institute, fanzines, and newspaper articles of the period. Analysis revealed that in particular historical times and situations television viewing can become a form of public pedagogy, facilitating transformational learning in adult viewers that produces lasting, life-changing effects. The investigation revealed that not only did biologically-born women incorporate Cathy Gale’s feminist example into their identities and actions, but biologically born males whose core gender identity was female did also. This dissertation is written in article format. Each of the six sections has been designed as stand-alone pieces to aid accessibility and enhance readers’ engagement with the study.
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Incidental Noticing and EFL Students’ Subsequent Second Language Learning in Synchronous Text-based Discussion: An Investigation of Both NES-NNES and NNES-NNES DyadsKung, Wan-Tsai 2009 August 1900 (has links)
This dissertation investigated Taiwanese English as Foreign Language (EFL)
learners' incidental noticing and their subsequent language learning in relation to learner
proficiency level and dyadic type in a text-based computer-mediated communication
(CMC) environment. Sixty participants were included to form 30 dyads. At random,
eight low-intermediate and eight advanced nonnative English speakers (NNESs) were
paired with 16 native English speakers (NESs) to form 16 NES-NNES dyads; another 14
advanced NNESs and 14 low-intermediate NNESs were paired to form 14 mixedproficiency
NNES-NNES dyads.
The results revealed that the synchronous computer-mediated communication
(SCMC) medium could, in general, enhance the occurrence of learners' incidental
noticing and their subsequent second language (L2) learning regardless of learners'
proficiency levels and dyadic types. No significant differences were found in the amount
of the language-related episodes (LREs) produced by the NES-NNES dyads when compared to the NNES-NNES dyads. With regard to the number of LREs generated by
the learners of different proficiency levels, the results showed that: (1) in the NESNNES
dyads, no significant difference was found between the low-intermediate and
advanced learners, and (2) in the NNES-NNES dyads, the low-intermediate learners
produced a significantly greater number of LREs than their advanced interlocutors. In
terms of the effect of interlocutors' proficiency levels on the number of LREs produced
by the learners, the results revealed that: (1) the low-intermediate learners in the NESNNES
dyads produced a significantly greater number of LREs than the low-intermediate
learners in the NNES-NNES dyads, and (2) the advanced learners in the NES-NNES
dyads also produced a significantly greater number of LREs than the advanced learners
in the NNES-NNES dyads.
With respect to the learners' performance on both posttests, the results of chi-square
analyses showed that: (1) no significant differences were found both within and across
the two dyadic types, and (2) no significant differences were found between learners of
different proficiency levels within and across both NES-NNS and NNES-NNES dyads.
Logistic regression analyses revealed that five LRE characteristics (type, source,
complexity, proficiency, and successful uptake) in the NES-NNES dyads and three LRE
characteristics (proficiency, timing and successful uptake) in the NNES-NNES dyads
were shown to be significant predictor variables of the learners' subsequent L2 learning.
Successful uptake was the most prevalent predictor variable of the learners' subsequent
L2 learning across the two dyadic types. Besides, proficiency appeared to be the second
prevalent variable but played a different role in these two dyadic types. Considering the language aspects focused in the LREs, negotiations on the linguistic features of grammar,
vocabulary, and spelling were much more prevalent than the pragmatic aspects of
language.
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A Proposal for Enhancing and Measuring Infant-Directed Maternal Utterances and Incidental Teaching within the SafeCare® Parent-Infant Interaction ModuleSmith, Megan O 13 December 2010 (has links)
Child maltreatment is a serious and pervasive public health problem in the United States. In 2008, there were 772,000 children who were substantiated victims of maltreatment and 1,740 children died as a result of maltreatment. Approximately 33 percent of maltreatment victims were under the age of four. Among numerous other negative sequelae, children who have been maltreated have an elevated incidence of language delay and poor cognitive functioning, both strong predictors of literacy skills and later academic achievement. Further, maternal language input is critical to a child’s cognitive development and language acquisition. Maltreating mothers provide their children with far less verbal stimulation and are less likely to engage their children in learning opportunities. Home visiting programs are effective means of preventing child maltreatment or further maltreatment by parents and may be better utilized to improve language of children. SafeCare® represents one such program. It is an evidence-based program for the treatment and prevention of child maltreatment, consisting of four modules: Parent- Infant Interaction (PII), Parent-Child Interaction (PCI), Health and Safety. The purpose of the proposed research is to determine whether PII or a language-enhanced version of the module is effective in increasing the number of maternal utterances with her infant and the frequency of incidental teaching. The enhanced PII segment was created, not only to be an effective tool for promoting language, but also to be succinct enough to imbed into the extant protocols so as not to add a cumbersome burden to SafeCare home visitors or parents participating in the program.
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Retrospective analysis of incidental non-trauma associated findings in severely injured patients identified by whole-body spiral CT scansFakler, Johannes K. M., Özkurtul, Orkun, Josten, Christoph 05 September 2014 (has links) (PDF)
Background: Whole-body Computed Tomography (CT) scan today is considered a crucial imaging technique in the diagnostic work-up of polytrauma patients implicating a potential survival benefit. Apart from prompt identification of life threatening injuries this imaging technique provides an additional benefit by diagnosing incidental non-trauma associated medical diseases. These incidental findings might be also life threatening and warrant urgent therapy. The downside of whole-body CT is a relatively high radiation exposure that might result in an increased life time cancer risk. The aim of this study was to investigate the frequency and type of non trauma associated incidental medical findings in relation to patient age and potential clinical relevance.
Methods: Between January 1st 2011 and December 15th 2012, a total of 704 trauma patients were referred to our hospital’s emergency room that triggered trauma room alarm according to our trauma mechanism criteria. Of these 534 (75.8%) received a whole-body CT according to our dedicated multiple trauma protocol. Incidental Findings (IF) were assigned in three groups according to their clinical relevance. Category 1: IF with high medical relevance (urgent life threatening conditions, unless treated) needing early investigations and intervention prior to or shortly after hospital discharge. Category 2: IF with intermediate or low medical relevance, warranting further investigations. Category 3: IF without clinical relevance. Results: Overall 231 IFs (43.3%) were identified, 36 (6.7%) patients had IFs with a high clinical relevance, 48 (9.0%) with a moderate or minor clinical relevance and 147 (27.5%) with no clinical relevance. The distribution of incidental findings with high or moderate relevance according to age showed an incidence of 2.6%, 6.6% and 8.8% for patients younger than 40 years, 40 to 60 years and older than 60 years, respectively. Conclusion: Whole-body CT scans of trauma patients demonstrate a high rate of incidental findings. Potentially life-threatening, medical findings were found in approximately every 15th patient, predominantly aged over 40 years and presenting with minor to moderate injuries and an Injury Severity Score (ISS) of 10 or less.
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Incidental lexical acquisition and the modification of glosses in intermediate SpanishNoe, Kelly Dawn. January 2004 (has links)
Thesis (M.A.)--Miami University, Dept. of Spanish and Portguese, 2004. / Title from first page of PDF document. Includes bibliographical references (p. 46-52).
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Estudo da frequência e localização de achados incidentais da região maxilofacial de diferentes campos de visão em exames de tomografia computadorizada de feixe cônico / Study of the frequency and location of incidental findings of the maxillofacial region in different fields of view in CBCT scansIvna Albano Lopes 02 March 2016 (has links)
A possibilidade de obtenção de imagens em três dimensões com a Tomografia Computadorizada de Feixe Cônico (TCFC) aumentou, sobremaneira, a capacidade de diagnóstico e planejamento odontológico. Exames de TCFC cobrindo toda a região maxilofacial permitem a detecção de lesões e anomalias fora da área específica de interesse. A avaliação minuciosa do exame nos permite a constatação de achados incidentais com ou sem significado clínico. São considerados como achados incidentais, imagens descobertas não relacionadas com o propósito original do exame e incluem variações anatômicas, anomalias, lesões benignas ou malignas. Neste estudo, avaliou-se o tipo, frequência e localização de achados incidentais na região maxilofacial de exames tomográficos, e a relevância clínica dos achados foi classificada quanto à necessidade ou não de acompanhamento, tratamento ou encaminhamento para um profissional especializado. Foram avaliados 150 exames de TCFC, divididos de acordo com o tamanho do FOV (campo de visão) em três grupos: maxila 6cm, mandíbula 6cm e maxila/mandíbula 13 cm. Os achados incidentais foram categorizados em 6 zonas: vias aéreas, ATM, osso, lesões dos maxilares, dente e calcificações de tecido mole. Os resultados mostram 560 achados incidentais que foram encontrados em 92% da amostra avaliada, sendo 225 nos exames onde o FOV abrangia maxila, 99 na mandíbula e 236 na maxila/mandíbula. Os achados incidentais foram mais frequentes na zona de dente, com 27,32% dos achados, seguida pelas vias aéreas com 24,46%, calcificações de tecido mole com 20,53%, ATM com 16,42%, 7,32% osso, lesões dos maxilares 1,96% e outros achados também com 1,96%. Foi constatado ainda que: 43,46% dos achados incidentais não necessitaram de tratamento ou encaminhamento para outro profissional, 28,97% necessitaram da aquisição de novas imagens para acompanhamento e 27,57% necessitaram de tratamento ou encaminhamento. Este estudo confirmou a alta frequência de achados incidentais em exames de TCFC. Concluiu-se que é necessária a interpretação e emissão de laudo de todo o volume obtido no exame de TCFC e não somente da região do propósito do exame. / The ability to obtain images in three dimensions with Cone Beam Computed Tomography (CBCT) has greatly increased the ability for dental diagnosis and planning. CBCT exams covering all the maxillofacial areas allow the detection of abnormalities and lesions outside the specific area of interest. A thorough evaluation of the exams allows for the discovery of incidental findings with or without clinical significance. Discovered images unrelated to the original purpose of the examination are considered incidental findings and include anatomical variations, anomalies, benign and malignant lesions. In the present study, the type, frequency and location of incidental findings in the maxillofacial region of CBCT scans were evaluated, and the clinical relevance of the findings were classified as requirement or not monitoring, treatment or referral to a specialist. Evaluated were 150 CBCT exams, divided according to the size of the FOV (field of view) into three groups: 6cm maxilla, 6cm mandible and 13 cm maxilla/mandible. The incidental findings were categorized into six areas: Airway, ATM, bone, lesions of the jaws, teeth and soft tissue calcifications. The results show 560 incidental findings that were found in 92% of the sample studied, with 225 exams where the FOV covered just the maxilla, 99 in the mandible and 236 in the maxilla/mandible. The incidental findings were more frequent in the tooth zone, with 27.32% of the findings, followed by airways with 24.46%, soft tissue calcifications with 20.53%, ATM with 16.42%, 7.32% bone, 1.96% lesions of the jaw and 1.96% other findings. Also found were that 43.46% of the incidental findings did not need treatment or referral to another professional, 28.97% required the acquisition of new images for monitoring and 27.55% needed treatment or referral. The present study confirmed the high frequency of incidental findings in CBCT scans. It was concluded that it is necessary to interpret and report the total volume obtained in the CBCT examinations and not only the purpose of the examination region.
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