Global ETD Search

801	Biomechanical and morphological characterization of common iliac vein remodeling: Effects of venous reflux and hypertension Brass, Margaret Mary January 2014 (has links) Indiana University-Purdue University Indianapolis (IUPUI) / The passive properties of the venous wall are important in the development of venous pathology. Increase in venous pressure due to retrograde flow (reflux) and obstruction of venous flow by intrinsic and extrinsic means are the two possible mechanisms for venous hypertension. Reflux is the prevailing theory in the etiology of venous insufficiency. The objective of this thesis is to quantify the passive biomechanical response and structural remodeling of veins subjected to chronic venous reflux and hypertension. To investigate the effects of venous reflux on venous mechanics, the tricuspid valve was injured chronically in canines by disrupting the chordae tendineae. The conventional inflation-extension protocol in conjunction with intravascular ultrasound (IVUS) was utilized to investigate the passive biomechanical response of both control common iliac veins (from 9 dogs) and common iliac veins subjected to chronic venous reflux and hypertension (from 9 dogs). The change in thickness and constituent composition as a result of chronic venous reflux and hypertension was quantified using multiphoton microscopy (MPM) and histological evaluation. Biomechanical results indicate that the veins stiffened and became less compliant when exposed to eight weeks of chronic venous reflux and hypertension. The mechanical stiffening was found to be a result of a significant increase in wall thickness (p < 0.05) and a significant increase in the collagen to elastin ratio (p < 0.05). After eight weeks of chronic reflux, the circumferential Cauchy stress significantly reduced (p < 0.05) due to wall thickening, but was not restored to control levels. This provided a useful model for development and further analysis of chronic venous insufficiency and assessment of possible intervention strategies. Vascular Biomechanics Common Iliac Vein Venous Reflux Hypertension Incompressibility Hypertension -- Research -- Evaluation Hypertension -- Animal models Veins -- Pathophysiology Veins -- Physiology Veins -- Elastic properties Veins -- Diseases Blood-vessels -- Physiology Tricuspid valve -- Abnormalities Iliac vein -- Physiology Blood-vessels -- Abnormalities Hemodynamic monitoring Biomedical engineering -- Research Biomechanics -- Research Collagen -- Research Elastin -- Research
802	Estudo do gene do hormônio de crescimento hipofisário (GH1) em indivíduos com baixa estatura idiopática / Study of Growth Hormone 1 gene (GH1) in children with idiophatic short stature Lido, Ândria Carla Vito 05 August 2014 (has links) O sistema hormônio de crescimento (GH) / fator de crescimento insulina- símile tipo 1 (IGF-1) é o principal determinante e regulador do crescimento linear pósnatal. O GH é codificado pelo gene Growth Hormone 1 (GH1). Mutações no GH1 com efeito dominante negativo e herança autossômica dominante são as principais causas monogênicas de deficiência isolada de hormônio de crescimento (DIGH), enquanto deleções ou mutações de ponto no GH1 causam formas raras autossômicas recessivas de DIGH. No grupo de pacientes com DIGH do ambulatório de Endocrinologia do Desenvolvimento do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, foram identificadas apenas deleções em homozigose no GH1 mesmo após estudo criterioso deste gene. Esta diferença em relação aos dados descritos na literatura poderia ser justificada pelo critério diagnóstico para a DIGH adotado pelo nosso grupo, sendo utilizado pico de GH em teste de estímulo inferior a 3,3 ug/L, em contraste com os valores de corte descritos na literatura que variam de 7 a 10 ug/L. Devido a esse fator, pacientes com mutações no GH1 com herança autossômica dominante poderiam estar sendo erroneamente diagnosticados como portadores de baixa estatura familiar ou idiopática (BEI) em nosso serviço. Adicionalmente, mutações que originam moléculas de GH biologicamente inativas também poderiam estar presentes nestes pacientes. Pelos fatores acima apresentados, expandimos o estudo do GH1 para um grupo de crianças classificadas como BEI. Foram selecionadas 98 de 487 crianças avaliadas em nosso serviço com baixa estatura utilizando os seguintes critérios: peso e comprimento normais para idade gestacional ao nascimento, escore-Z da altura < -2, escore-Z do IGF-1 < -1 e pico de resposta de GH >= 3,3 ug/L no teste de estímulo. DNA foi extraído de leucócitos periféricos desses pacientes para rastreamento de mutações no gene GH1. Realizamos estudo molecular por reação em cadeia da polimerase e sequenciamento automático de toda a região codificadora do GH1. Segregação familiar foi realizada para as variantes alélicas identificadas. Em nossa casuística, foram identificadas 10 variantes alélicas nos éxons 4 e 5 e no íntron 4 do GH1, sendo três variantes ainda não descritas na literatura (c.407G > A/p.Val122Ile, c.507C > T/p.Tyr169Tyr e c.456+19G > T). A análise in silico de todas as variantes identificadas indicou ausência de predição de efeito deletério sobre a proteína do GH. Estudo complementar realizado pelo nosso grupo identificou em crianças diagnosticadas com DIGH grave apenas uma paciente com mutação no GH1 responsável pela forma dominante desta doença. Em conclusão, mutações no GH1 causadoras da forma autossômica dominante de DIGH ou Tipo II não foram encontradas em nossa casuística, o que sugere que estas mutações sejam infrequentes em nossa população / The growth hormone (GH) / insulin-like growth factor-1 (IGF-1) axis is the most important hormonal regulator of post-natal linear growth. GH is encoded by the Growth Hormone 1 gene (GH1). Mutations in GH1 with dominant inheritance, which exerts a dominant negative effect on the bioactive GH isoforms, are the main causes of monogenic isolated deficiency of growth hormone (IGHD), while deletions or point mutations in GH1 are responsible for a rare autosomal recessive form of IGHD. However, only homozygous deletions were identified in patients with IGHD from Unidade de Endocrinologia do Desenvolvimento do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, even after detailed investigation of GH1. This difference regarding to literature can be caused by different criteria used to diagnose IGHD in our group, which adopted the cutoff value of peak GH < 3.3ug/L in response to stimulation test, in contrast to literature that describes other groups that use the cutoff peak value of the 7 - 10ug/L. Consequently, patients with autosomal dominant inheritance mutations in GH1 could be being erroneously diagnosed, as having idiopathic short stature (ISS) in our group. Additionally, mutations that cause biologically inactive GH can also be responsible for short stature in these patients. Due to the factors described above, we decided to screen mutations in GH1 in a group of children classified as ISS. We selected 98 of 487 children followed in our department with short stature according to the following criteria: normal birth weight and length for gestational age, height SDS <= -2, IGF-1 SDS < -1 and peak GH in stimulation test >= 3.3 ug/L. Genomic DNA was extracted from peripheral blood leucocytes of the patients to screen for mutations in GH1. We performed molecular analysis by polymerase chain reaction and automated sequencing of the entire coding region of the GH1. Segregation analysis was performed in the presence of allelic variations. In our casuistic, we identified 10 allelic variants in exon 4, exon 5 and intron 4 of GH1, three of which have not been described (c.407G > A/p.Val122Ile, c.507C > T/p.Tyr169Tyr and c.456+19G >T). In silico analysis predicted that none of the mutant alleles would result in deleterious effect on the GH protein. An additional study in children diagnosed with severe IGHD, identified just one patient with the pathogenic GH1 mutation responsible for the dominant form of this disease. In summary, defects in GH1 responsible for the autosomal dominant form of IGHD or Type II were not found in our cohort of Brazilian patients, suggesting that these mutations are infrequent in our population Body height/genetics Child Child preschool Crescimento e desenvolvimento/genética Criança Estatura/genética Fator de crescimento insulin-like I Genes dominant Genes dominantes Growth disorders/blood Growth disorders/classification Growth disorders/genetics Growth and development/genetics Growth disorders/diagnosis Growth disorders/etiology Growth hormone/deficiency Growth hormone/genetics Hormônio do crescimento/deficiência Hormônio do crescimento/genética Human growth hormone/deficiency Linhagem Mutação Mutation Pedigree Pré-escolar Transtornos do crescimento/diagnóstico Transtornos do crescimento/etiologia Transtornos do crescimento/genética Transtornos do crescimento/sangue
803	Estudo do gene do hormônio de crescimento hipofisário (GH1) em indivíduos com baixa estatura idiopática / Study of Growth Hormone 1 gene (GH1) in children with idiophatic short stature Ândria Carla Vito Lido 05 August 2014 (has links) O sistema hormônio de crescimento (GH) / fator de crescimento insulina- símile tipo 1 (IGF-1) é o principal determinante e regulador do crescimento linear pósnatal. O GH é codificado pelo gene Growth Hormone 1 (GH1). Mutações no GH1 com efeito dominante negativo e herança autossômica dominante são as principais causas monogênicas de deficiência isolada de hormônio de crescimento (DIGH), enquanto deleções ou mutações de ponto no GH1 causam formas raras autossômicas recessivas de DIGH. No grupo de pacientes com DIGH do ambulatório de Endocrinologia do Desenvolvimento do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, foram identificadas apenas deleções em homozigose no GH1 mesmo após estudo criterioso deste gene. Esta diferença em relação aos dados descritos na literatura poderia ser justificada pelo critério diagnóstico para a DIGH adotado pelo nosso grupo, sendo utilizado pico de GH em teste de estímulo inferior a 3,3 ug/L, em contraste com os valores de corte descritos na literatura que variam de 7 a 10 ug/L. Devido a esse fator, pacientes com mutações no GH1 com herança autossômica dominante poderiam estar sendo erroneamente diagnosticados como portadores de baixa estatura familiar ou idiopática (BEI) em nosso serviço. Adicionalmente, mutações que originam moléculas de GH biologicamente inativas também poderiam estar presentes nestes pacientes. Pelos fatores acima apresentados, expandimos o estudo do GH1 para um grupo de crianças classificadas como BEI. Foram selecionadas 98 de 487 crianças avaliadas em nosso serviço com baixa estatura utilizando os seguintes critérios: peso e comprimento normais para idade gestacional ao nascimento, escore-Z da altura < -2, escore-Z do IGF-1 < -1 e pico de resposta de GH >= 3,3 ug/L no teste de estímulo. DNA foi extraído de leucócitos periféricos desses pacientes para rastreamento de mutações no gene GH1. Realizamos estudo molecular por reação em cadeia da polimerase e sequenciamento automático de toda a região codificadora do GH1. Segregação familiar foi realizada para as variantes alélicas identificadas. Em nossa casuística, foram identificadas 10 variantes alélicas nos éxons 4 e 5 e no íntron 4 do GH1, sendo três variantes ainda não descritas na literatura (c.407G > A/p.Val122Ile, c.507C > T/p.Tyr169Tyr e c.456+19G > T). A análise in silico de todas as variantes identificadas indicou ausência de predição de efeito deletério sobre a proteína do GH. Estudo complementar realizado pelo nosso grupo identificou em crianças diagnosticadas com DIGH grave apenas uma paciente com mutação no GH1 responsável pela forma dominante desta doença. Em conclusão, mutações no GH1 causadoras da forma autossômica dominante de DIGH ou Tipo II não foram encontradas em nossa casuística, o que sugere que estas mutações sejam infrequentes em nossa população / The growth hormone (GH) / insulin-like growth factor-1 (IGF-1) axis is the most important hormonal regulator of post-natal linear growth. GH is encoded by the Growth Hormone 1 gene (GH1). Mutations in GH1 with dominant inheritance, which exerts a dominant negative effect on the bioactive GH isoforms, are the main causes of monogenic isolated deficiency of growth hormone (IGHD), while deletions or point mutations in GH1 are responsible for a rare autosomal recessive form of IGHD. However, only homozygous deletions were identified in patients with IGHD from Unidade de Endocrinologia do Desenvolvimento do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, even after detailed investigation of GH1. This difference regarding to literature can be caused by different criteria used to diagnose IGHD in our group, which adopted the cutoff value of peak GH < 3.3ug/L in response to stimulation test, in contrast to literature that describes other groups that use the cutoff peak value of the 7 - 10ug/L. Consequently, patients with autosomal dominant inheritance mutations in GH1 could be being erroneously diagnosed, as having idiopathic short stature (ISS) in our group. Additionally, mutations that cause biologically inactive GH can also be responsible for short stature in these patients. Due to the factors described above, we decided to screen mutations in GH1 in a group of children classified as ISS. We selected 98 of 487 children followed in our department with short stature according to the following criteria: normal birth weight and length for gestational age, height SDS <= -2, IGF-1 SDS < -1 and peak GH in stimulation test >= 3.3 ug/L. Genomic DNA was extracted from peripheral blood leucocytes of the patients to screen for mutations in GH1. We performed molecular analysis by polymerase chain reaction and automated sequencing of the entire coding region of the GH1. Segregation analysis was performed in the presence of allelic variations. In our casuistic, we identified 10 allelic variants in exon 4, exon 5 and intron 4 of GH1, three of which have not been described (c.407G > A/p.Val122Ile, c.507C > T/p.Tyr169Tyr and c.456+19G >T). In silico analysis predicted that none of the mutant alleles would result in deleterious effect on the GH protein. An additional study in children diagnosed with severe IGHD, identified just one patient with the pathogenic GH1 mutation responsible for the dominant form of this disease. In summary, defects in GH1 responsible for the autosomal dominant form of IGHD or Type II were not found in our cohort of Brazilian patients, suggesting that these mutations are infrequent in our population Crescimento e desenvolvimento/genética Criança Estatura/genética Fator de crescimento insulin-like I Genes dominantes Hormônio do crescimento/deficiência Hormônio do crescimento/genética Linhagem Mutação Pré-escolar Transtornos do crescimento/diagnóstico Transtornos do crescimento/etiologia Transtornos do crescimento/genética Transtornos do crescimento/sangue Body height/genetics Child Child preschool Genes dominant Growth disorders/blood Growth disorders/classification Growth disorders/genetics Growth and development/genetics Growth disorders/diagnosis Growth disorders/etiology Growth hormone/deficiency Growth hormone/genetics Human growth hormone/deficiency Mutation Pedigree
804	Action in Chronic Fatigue Syndrome: an Enactive Psycho-phenomenological and Semiotic Analysis of Thirty New Zealand Women's Experiences of Suffering and Recovery Hart, M J Alexandra January 2010 (has links) This research into Chronic Fatigue Syndrome (CFS) presents the results of 60 first-person psycho-phenomenological interviews with 30 New Zealand women. The participants were recruited from the Canterbury and Wellington regions, 10 had recovered. Taking a non-dual, non-reductive embodied approach, the phenomenological data was analysed semiotically, using a graph-theoretical cluster analysis to elucidate the large number of resulting categories, and interpreted through the enactive approach to cognitive science. The initial result of the analysis is a comprehensive exploration of the experience of CFS which develops subject-specific categories of experience and explores the relation of the illness to universal categories of experience, including self, ‘energy’, action, and being-able-to-do. Transformations of the self surrounding being-able-to-do and not-being-able-to-do were shown to elucidate the illness process. It is proposed that the concept ‘energy’ in the participants’ discourse is equivalent to the Mahayana Buddhist concept of ‘contact’. This characterises CFS as a breakdown of contact. Narrative content from the recovered interviewees reflects a reestablishment of contact. The hypothesis that CFS is a disorder of action is investigated in detail. A general model for the phenomenology and functional architecture of action is proposed. This model is a recursive loop involving felt meaning, contact, action, and perception and appears to be phenomenologically supported. It is proposed that the CFS illness process is a dynamical decompensation of the subject’s action loop caused by a breakdown in the process of contact. On this basis, a new interpretation of neurological findings in relation to CFS becomes possible. A neurological phenomenon that correlates with the illness and involves a brain region that has a similar structure to the action model’s recursive loop is identified in previous research results and compared with the action model and the results of this research. This correspondence may identify the brain regions involved in the illness process, which may provide an objective diagnostic test for the condition and approaches to treatment. The implications of this model for cognitive science and CFS should be investigated through neurophenomenological research since the model stands to shed considerable light on the nature of consciousness, contact and agency. Phenomenologically based treatments are proposed, along with suggestions for future research on CFS. The research may clarify the diagnostic criteria for CFS and guide management and treatment programmes, particularly multidimensional and interdisciplinary approaches. Category theory is proposed as a foundation for a mathematisation of phenomenology. action Chronic Fatigue Syndrome Myalgic Encephalomyelitis Chronic Immune Deficiency Syndrome enaction social enaction social enactivism enactive psycho-phenomenological psychophenomenological vipassana groundlessness mind-body korper leib co-generative Focusing co-creative environment Antonio Damasio reciprocal constraints Pierre Vermersch Claire Petitmengin Antione Lutz narrative discourse phenomenal invariants Evan Thompson Merleau-Ponty Algirdis Julien Greimas Husserl first-person Fransisco Varela modelling invariants Natalie Depraz isotope John Boyd OODA loop Jonathan Shear Shaun Gallagher Arthur Kleinman Humberto Maturana second-person Alva Noe Dan Zahavi stages Embodied Mind Canterbury Wellington New Zealand non-dual non-reductive embodied phenomenological third-person graph-theoretical cluster analysis cognitive science experience solution subject-specific categories universal categories universal categories self energy illness process intersubjectivity Mahayana Buddhism contact narrative recovered making sense recursive loop perception dynamical decompensation neurology diagnosis empathy treatment management neurophenomenological neurophenomenology consciousness veracity agency multidimensional interdisciplinary category theory enculturation mathematisation of phenomenology interview nomenclature diagnostic criteria incidence prevalence coping strategy etiology epidemiology psychosomatic medicine meaning women girl female anthropology sociology cognitive behavioral therapy exercise therapy recovery mindful awareness suffering symbolisation Prasangika no-self aggregates wheel of karma cognition basic element analysis mental factors operational closure stereotypes enactive ontologically fragile self grief process-knowledge epoche phenomenal invariants textual invariants compound meaning saturation formalisation cluster analysis inter-session review inter-individual validation explicitation interview intricacy confidence psychophenomenology self-esteem sanction self dis-integration permanence continuity ego-self emotion surrender semiotic square meditation empathy semiotic compassion existential feelings goal obstruction movement transformation change somatic Giovanna Colombetti agoraphobia panic anxiety psychotherapy sleep rest pain weakness strength stamina Diego Cosmelli heaviness food chemicals allergy recovering despair frustration helplessness fear efference valence afference as-if-body-loop consciousness representation attention recovery intention sustainable sustainability neurasthenia existential feelings asthenia hysteria mononucleosis samatha-vispasnya prajna vijnana Eugene Gendlin Abhidharma dukkha shamatha interdependence vipashyana

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