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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
141

En litteraturstudie om Coreträning, smärta och cobb angle hos tonåringar med idiopatisk skolios

Engström, Jennifer, Mandlbauer, Madeleine January 2016 (has links)
Bakgrund: Skolios är en åkomma som förekommer hos två till fyra procent av alla barn och ungdomar i en ålder på 10-20 år. Skolios innebär att personen har en snedställning av ryggraden som mäts och definieras med metoden cobb angle. Detta kan ge upphov till smärta men även andra typer av problem som exempelvis längre livskvalitet. Ungdomarna kan uppleva att det besvärar dem i deras vardag både fysiskt, psykiskt och socialt. Vid andra allmänna former av ryggproblem har studier påvisat goda resultat för minskad smärta vid fysisk aktivitet av bålen.   Syftet: med studien är att utvärdera om coreträning kan minska ryggsmärtor och cobb angle hos tonåringar med idiopatisk skolios.   Metod: Metoden som användes är en deskriptiv litteraturstudie. För att hitta relevanta studier användes databaserna pubmed och cinahl. Studiernas evidensgranskades utifrån ett granskningsprotokoll (GRADE).   Resultatet: inkluderade 14 artiklar som redovisades i fyra olika teman: Coreträning som reducerar smärta & cobb angle, Coreträning utan inverkan på smärta och cobb angle, muskelstyrka & träningskapacitet och samband mellan bålstabilitet & livskvalité. Resultatet påvisade lite delade meningar om huruvida coreträning kan hjälpa till att minska smärta och cobb angle. Merparten av artiklarna visade att specifikt utformad coreträning kan hjälpa till att reducera smärta och cobb angle, men däremot sågs ingen större skillnad mellan generella- och specifika träningsprogram på reducering av smärta och cobb angle.   Slutsats: I denna studie framkom samband mellan ökad bålstabilitet och minskad smärta/cobb angle. Detta kan tyda på att specificerad coreträning skulle kunna agera som behandling för att minska smärta och cobb angle hos tonåringar med idiopatisk skolios.
142

Vývojová porucha koordinace/vývojová dyspraxie u pacientů s idiopatickou skoliózou - pilotní studie / The developmental coordination disorder/developmental dyspraxia in patients with the idiopathic scoliosis - A Pilot Study

Mašíková, Darina January 2016 (has links)
The thesis is foccused on the problematics of the developmental coordination disorder and its presence within the patiens with the idiopathic scoliosis. The theoretical part deals with the explanation of the terms of developmental coordination disorder, sensory integration and idiopathic scoliosis. The experimental part looks for the connection among the idiopathic scoliosis and the dvelopmental dyspraxia. Thirty patients took part in it. Eighteen of them were patiens with the idiopathic scoliosis, these were divided into two groups according to the age. The first group at the age of 7 to 10 years counted four patiens, the other group from 11 to 16 years contained fourteen patiens. The controll group involved twelve children from the fifth class of the common primary school. The children were tested by the standardized Movement Assessment Battery for Children 2 (MABC-2). Furthermore the measurement was completed by two questionnaires for parents. In the DCDQ'07 they assessed the motor abilities of their child compared to children of the same age and gender. The other questionnaire was aimed at closer information obout the pregnancy, development of the child, presence of any disease or impairment, etc. The difference between motor skills of children with the idiopathic scoliosis and the controll group in...
143

Vyšetření mozečkových funkcí u pacientů se skoliózou / Examination of cerebeller function in patients with scoliosis

Drdáková, Lenka January 2011 (has links)
Purpose: The aim of this research was to determine whether there is a difference in the presence of minimal cerebellar signs, hypermobility and dyspraxia in the group of patients with idiopathic scoliosis (IS) and a control group of individuals without IS. Methods: 11 patients have been selected for this research with IS and 11 individuals without IS as a control group. The International Cooperative Ataxia Rating Scale (ICARS) was used for examination of cerebellar signs. Hypermobility was evaluated with ten tests according to Janda. The presence of pendulum reflexes was determined by examination of patellar and triceps reflex, while dyspraxia was analyzed by means of the Czechoslovak test. Results: Patients with IS scored significantly worse in ICARS than the control group (p < 0,05). IS patients presented with significantly more pronounced hypermobility in head rotation (p = 0,0384) and forward bending (p = 0,0409) tests comparing to the control group. No significant difference between the two groups was identified in pendulum reflexes and the Czechoslovak dyspraxia test. Conclusion: The study confirms significantly more positive signs of ataxia and asynergy in a group of patients with IS comparing to control group. Hypermobility was significantly more pronounced in head rotation and forward...
144

Flaxseed oil and prevention of pulmonary fibrosis

Choi, Seojin January 1900 (has links)
Doctor of Philosophy / Department of Human Nutrition / Richard C. Baybutt / Weiqun George Wang / Although omega-3 fatty acids have been a hot issue in nutrition for years, there remains a paucity of research on the topic of omega-3 fatty acid and pulmonary fibrosis and the mechanism is still unclear. The purpose of this research is to investigate the preventive effects of flaxseed oil for bleomycin-induced pulmonary fibrosis in rats and to find the possible underlying mechanisms. There are two experiments demonstrated in this dissertation, one is with various doses of flaxseed oil in the diet (0, 2.5, 5, 7.5, 10, 12.5, and 15 % (w/w)), and the other is with different times of sacrificing animals after oropharyngeal bleomycin treatment (days 7 and 21). In the first study, three proteins including transforming growth factor-[beta] (TGF-[beta]), interleukin-1 (IL-1), and [alpha]-smooth muscle actin ([alpha]-SMA), commonly associated with fibrotic inflammation in the lung, were examined by Western blot and fatty acids composition of the diets and tissues were analyzed by gas chromatography (GC). Fifteen percent of flaxseed oil group significantly reduced septal and vascular thickness and fibrosis in the lung, and significant cardiac fibrosis in the heart. The amount of IL-1 and [alpha]-SMA decreased significantly as the amount of omega-3 fatty acids increased, whereas TGF-[beta] did not change significantly. The next study further reported the time-course effect and potential underlying mechanisms. Both interleukin-6 (IL-6), a protein associated with fibrotic inflammation in the lung, and renin, an enzyme related to renin-angiotensin system, were examined by Western blot. The time-dependent increase of IL-6 in response to bleomycin treatment was reversed by flaxseed oil diet. Although renin was not significantly different in the kidney, it suggested that the renin-angiotensin system may be involved locally. In addition, the profiles of fatty acids in both liver and kidney tissues as measured by lipidomics demonstrated a significant increase of omega-3: omega-6 ratio in the flaxseed oil-fed groups. Overall, these results indicated for the first time that the omega-3 fatty acids rich in flaxseed oil inhibited the formation of pulmonary fibrosis in a dose-dependent manner - however the moderate dose of flaxseed oil was most effective - via anti-inflammatory mechanisms, which appears associated with the modulated fatty acid composition in the tissues.
145

Aktuální přístupy v terapii skolióz - literární rešerše / Current approaches in conservative treatment of scoliosis - literature review

Truhlářová, Tereza January 2019 (has links)
Title: Current approaches in conservative treatment of scoliosis - literature review Objective: The goal of this diploma thesis is evaluate the most efective current within a combination of a bracing with exercises therapy. Next goal is to summarize matters of adolescent idiopathic scoliosis disease, especially outline of clinical picture, causes and predisposition for origin these deformity and last but not least options in conservative treatment. Methodics: This diploma thesis is processed as literature review from available literary resources. First part of thesis contains all of theoretical bases and knowledge about adolescent idiopathic scoliosis. Second part has a decriptive-analytical charakter and contains analysis of studies, which was used a bracing supplemented by exercises treatment. Results: Established criteria after finish of review fulfill only nine studies, which interest about efectivness of treatment by bracing in pacient with adolescent idiopathic scoliosis. Because the way of studies and their very low number of studies, is not possible to evaluate results of studies and conclusively interpret, which one is the most effective access. Nevertheless in all of this studies was demonstrated higher efficancy by therapy with probands undergoing a bracing along with active exercise...
146

Diferenciação das manifestações clínicas e alterações laboratoriais iniciais entre pacientes com artrite idiopática juvenil forma sistêmica e leucemia linfoblástica aguda / Differenciation of initial clinical manifestations and laboratories alterations between acute lymphoblastic leukemia and systemic onset juvenile idiopathic arhtritis

Tamashiro, Mirian Setsuko 08 February 2011 (has links)
Objetivo: Avaliar as características clínicas e laboratoriais para diferenciar leucemia linfoblástica aguda (LLA) da artrite idiopática juvenil forma sistêmica (AIJs) no início da doença. Métodos: Cinquenta e sete pacientes com LLA com envolvimento musculoesquelético, sem blastos no sangue periférico e sem terapia com glucocorticoide no início da doença e 102 pacientes com AIJs (critérios ILAR) foram retrospectivamente avaliados. Foram estudadas as seguintes características: febre, exantema reumatoide, artrite, dor em membros, hepatomegalia, esplenomegalia, pericardite, miocardite, pleurite, perda de peso, sangramento, anemia, leucopenia, neutropenia, plaquetopenia, níveis séricos elevados de velocidade de hemossedimentação (VHS) e de desidrogenase lática (DHL). Resultados: A mediana da idade de início da doença foi significativamente maior em pacientes com LLA comparada com AIJs (5,8 vs. 3,8 anos, p=0,0006). As frequências de dor em membros, hepatomegalia, perda de peso e manifestações hemorrágicas foram significativamente maiores em LLA versus AIJs (70% vs. 1%, p<0,0001; 54% vs. 32%, p=0,0075; 30% vs. 8%, p=0,0005; 98% vs. 0%, p=0,0053; respectivamente). Igualmente, as frequências de anemia, leucopenia, neutropenia, plaquetopenia e DHL elevado foram significativamente maiores em LLA versus AIJs (88% vs. 57%, p<0,0001; 39% vs. 1%, p<0,0001; 60% vs. 1%, p<0,0001; 77% vs. 1%, p<0,0001; 56% vs. 14%, p<0,0001; respectivamente). Consideravelmente, a análise multivariada mostrou que dor em membros (OR=553; 95% IC=46,48-6580,42; p<0,0001) e plaquetopenia (OR=754,13; 95% IC=64,57-8806,72; p<0,0001) permaneceram como variáveis independentes que diferenciaram pacientes com LLA de pacientes com AIJs. O R2 de Nagelkerke foi de 0,91. A curva de sobrevida de Kaplan-Meier foi similar em pacientes com LLA com e sem dor em membros (p=0,8347). Conclusão: O presente estudo enfatiza a importância de investigar pacientes com LLA que apresentam manifestações musculoesqueléticas, particularmente dor em membros com plaquetopenia / Objective: To assess clinical and laboratorial features which differentiate acute lymphoblastic leukemia (ALL) from systemic onset juvenile idiopathic arthritis (SoJIA) at disease onset. Methods: Fifty seven ALL patients with musculoskeletal involvement, without blasts on peripheral blood and glucocorticoid therapy at onset of disease and 102 SoJIA patients (ILAR criteria) were retrospectively evaluated. The following features were studied: fever, rheumatoid rash, arthritis, limb pain, hepatomegaly, splenomegaly, pericarditis, myocarditis, pleuritis, weight loss, bleeding, anemia, leukopenia, neutropenia, thrombocytopenia, high erythrocyte sedimentation rate and high lactic dehydrogenase (LDH) levels. Results: The median age at disease onset was significantly higher in ALL compared to SoJIA patients (5.8 vs. 3.8years, p=0.0006). The frequencies of limb pain, hepatomegaly, weight loss and hemorrhagic manifestations were significantly higher in ALL versus SoJIA patients (70% vs. 1%, p<0.0001; 54% vs. 32%, p=0.0075; 30% vs. 8%, p=0.0005; 98% vs. 0%, p=0.0053; respectively). Likewise, the frequencies of anemia, leukopenia, neutropenia, thrombocytopenia and high LDH levels were significantly higher in ALL versus SoJIA patients (88% vs. 57%, p<0.0001; 39% vs. 1%, p<0.0001; 60% vs. 1%, p<0.0001; 77% vs. 1%, p<0.0001; 56% vs. 14%, p<0.0001; respectively). Remarkably, multivariate analysis showed that limb pain (OR=553; 95% CI=46.48-6580.42; p<0.0001) and thrombocytopenia (OR=754.13; 95% CI=64.57-8806.72; p<0.0001) remained as independent variables that differentiate ALL from SoJIA patients. The R2 of Nagelkerke was 0.91. The Kaplan-Meier survival curves were similar in ALL patients with and without limb pain (p=0.8347). Conclusion: The present study emphasizes the importance to investigate ALL patients who have musculoskeletal manifestations, particularly limb pain associated with thrombocytopenia
147

Quantificação da perda neural no papiledema crônico pela tomografia de coerência óptica e o eletrorretinograma de padrão reverso / Quantification of axonal loss in chronic papiledema from pseudotumor cerebri syndrome with frequency domain-OCT and pattern electroretinogram

Afonso, Clara Lima 13 July 2015 (has links)
OBJETIVO: Avaliar a capacidade do eletrorretinograma de padrão reverso (PERG) de campo total de detectar alterações funcionais da retina em olhos com papiledema resolvido de pacientes com a síndrome do pseudotumor cerebral (PTC). Utilizar a tomografia de coerência óptica de domínio Fourier (FD-OCT) para avaliar a espessura total e das camadas internas da retina (após segmentação dos dados) na área macular e a camada de fibras nervosas retinianas (CFNR) peripapilar em pacientes com PTC, e compará-las com aquelas de olhos normais. Estudar a correlação entre as amplitudes do PERG, as medidas da tomografia de coerência óptica (OCT) e a perda de campo visual (CV) avaliada pela perimetria computadorizada. MÉTODOS: Cinquenta e dois olhos com papiledema clinicamente resolvidos de 29 pacientes portadores de PTC foram submetidos a exame oftalmológico completo, CV, PERG e OCT. As seguintes medidas obtidas pelo OCT foram analisadas: a espessura da CFNR peripapilar, a espessura macular total (EMT), avaliada em oito setores, de acordo com o mapa do Early Treatment Diabetes Retinopathy Study, e medidas segmentadas na região da mácula da CFNR, da camada de células ganglionares (CCG) e da camada nuclear interna (CNI). Os resultados do CV foram avaliados, levando em consideração o mean deviation (MD) e os valores de diferentes regiões do CV divididos, de acordo com sua correspondência no nervo óptico, seguindo o mapa de Garway-Heath. Foram, também, calculados os desvios médios de 12 ou de 16 pontos centrais do CV, que estimulam áreas semelhantes àquelas avaliada pelo OCT macular e pelo PERG. Os achados foram comparados utilizando-se as equações de estimativas generalizadas para compensação da interdependência dos dois olhos de um mesmo indivíduo. Foram, também, calculadas e comparadas as áreas sob as curvas ROC (receiver operating characteristics). As correlações entre os achados do PERG, do OCT e do CV foram avaliadas pela correlação de Pearson ou Spearman. RESULTADOS: Comparadas aos controles, as espessuras do OCT, da CFNR peripapilar, CFNR macular, CCG macular e EMT foram significativamente menores em pacientes com PTC. Com relação ao PERG, houve redução da amplitude de N95 e P50+N95, e aumento do tempo de pico de N95, ambos para o estímulo de 48\', em olhos doentes, quando comparados ao grupo controle. Correlações estatisticamente significantes foram encontradas entre os valores de amplitude do PERG e da espessura retiniana do OCT. As reduções de espessura das camadas retinianas do OCT também foram significativamente associadas à perda de sensibilidade do CV. CONCLUSÕES: O PERG e o OCT foram capazes de demonstrar a perda anatômica e funcional dos doentes com papiledema decorrente de PTC, apresentando significativa correlação entre os métodos analisados. Tanto o OCT avaliando as medidas maculares como o PERG podem ser úteis na monitorização da perda neural retiniana de pacientes com papiledema decorrente da síndrome do PTC / PURPOSE: To evaluate the ability of the full field pattern electroretinogram (PERG) to detect functional changes of retina in eyes with resolved papiledema from patients with pseudotumor cerebri (PTC). To analyze full thickness macular measurements, peripapillary retinal nerve fiber layer (RNFL) thickness as well as segmented inner retinal layers in patients with PTC using of Fourier domain optical coherence tomography (FD-OCT) and compare them with normal eyes. To study the correlation between the PERG parameters, the optical coherence tomography (OCT) measurements and the visual field (VF) sensitivity loss, using standard automated perimetry. METHODS: Fifty-two eyes with resolved papilledema of 29 patients with PTC syndrome were submitted to a complete ophthalmic examination including VF, PERG and OCT. The following OCT measurements were analyzed: the peripapillary RNFL thickness, the total macular thickness (TMT), which was sub-divided in 8 sectors according to the Early Treatment Diabetes Retinopathy Study map, and the segmented inner macula layers, RNFL, the ganglion cell layer (GCL) and inner nuclear layer (INL). The VF results were analyzed through the mean deviation (MD) and the different sectors of the VF according to their correspondence to Garway-Heath optic nerve map. Central mean deviation, an average from VF sensitivity for the 12 and 16 central points, an area roughly equivalent to the area tested by macular cube scan protocol and PERG, was evaluated in patients and controls. Generalized estimating equation models accounting for inter-eye correlations were used to compare the results among different groups. Areas under ROC (receiver operating characteristics) curves were also calculated and compared. The correlations between the findings of the PERG, OCT and VF were assessed by Pearson correlation coefficients or Spearman\'s rank correlation coefficients. RESULTS: Compared to controls, the OCT thickness of the peripapillary RNFL, macular RNFL, macular GCL and TMT were significantly thinner in eyes with PTC. When PERG was studied, the amplitude of P50 and N95 + N95 were significantly reduced and N95 peak time increased, both based on 48 min check size, in patients when compared with normal controls. Significant correlations were found between the PERG amplitude and OCT retinal thickness. The decreased thickness of the OCT retinal layers was also significantly associated with VF sensitivity loss. CONCLUSIONS: PERG and OCT were able to demonstrate anatomical and functional loss in patients with resolved papiledema from PTC, showing significant correlation between the methods analyzed. It is known that the main morbidity of this disease is visual impairment. It is therefore of great importance to monitor the visual function during treatment. Whereas papilledema may be reversible at early stages, permanent visual loss may occur. These findings suggest that both measurements can be complementary in assessing axonal loss in patients with PTC
148

Características genéticas de pacientes com hipertensão arterial pulmonar associada à  esquistossomose / Genetic characteristics of patients with pulmonary arterial hypertension associated with schistosomiasis

Oleas, Francisca Alexandra Gavilanes 28 May 2018 (has links)
Introdução: Vários genes, particularmente os envolvidos na via de transcrição Transforming Growth Factor beta, estão claramente associados ao risco de desenvolvimento de hipertensão arterial pulmonar. Entretanto, pouco ou quase nada se sabe sobre a existência de fatores genéticos que possam estar associados a uma das formas mais prevalentes de hipertensão arterial pulmonar no mundo, a hipertensão arterial pulmonar associada a esquistossomose (HAP-Sch). O objetivo deste estudo foi avaliar a associação dos genes já descritos na hipertensão arterial pulmonar idiopática (HAPI) com a HAP-Sch. Método: Estudo transversal, comparando amostras de pacientes seguidos no ambulatório de Circulação Pulmonar no Instituto do Coração do HCFMUSP, com diagnóstico de HAP-Sch ou HAPI. Foram avaliadas as características genéticas nestes grupos quanto à presença de variantes patogênicas dos genes:BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, andSMAD9. Resultados: Foram incluídos 69 pacientes com HAP-Sch e 74 pacientes com HAPI. O grupo HAP-Sch apresentou idade mais avançada (52.1 ± 11.8 vs 41.5 ± 15.0; p = < 0,001) e débito cardíaco mais preservado ao diagnóstico (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). Cerca de 24% dos pacientes com HAPI apresentaram resposta aguda durante o teste de vasorreatividade, enquanto nenhum paciente com HAP-Sch apresentou resposta (p =< 0.001). Pacientes com HAP-Sch apresentaram 7% de variantes patogênicas, comparado com11% dos HAPI(p=0,782). Em ambos os grupos, pacientes portadores de variantes patogênicas possuíam características clínicas e hemodinâmicas semelhantes aos demais pacientes. No grupo HAP-Sch, a sobrevida dos portadores de variantes patogênicas foi significativamente menor (p=0.035). Conclusão: A prevalência de variantes patogênicas na HAP-Sch é semelhante à encontrada na HAPI e, da mesma forma, sua presença está associada a pior prognóstico / Background: Several genes, mainly those involved with the Transforming Growth Factor ? transcription pathway, are well-defined as risk factors for developing pulmonary arterial hypertension. Nevertheless, little is known about the existence of a genetic background associated with one of the most prevalent forms of pulmonary arterial hypertension worldwide, which is schistosomiasis associated pulmonary arterial hypertension (Sch-PAH). The aim of this study was to evaluate the association of genes already described in idiopathic pulmonary arterial hypertension (IPAH) with Sch-PAH. Method: A cross-sectional study comparing samples from patients followed at the Pulmonary Circulation clinic at the Heart Institute of HCFMUSP, diagnosed as Sch-PAH or IPAH. Genetic characteristics in these groups were evaluated for the presence of pathogenic variants of the genes: BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, and SMAD9.Results: A total of 69 patients with Sch-PAH and 74 patients with IPAH were included. The Sch-PAH group presented older age (52.1 ± 11.8 vs 41.5 ± 15.0, p =< 0.001) and higher cardiac output at diagnosis (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). About 24% of patients with IPAH presented acute response during the vasoreactivity test, whereas no Sch-PAH patient presented response (p = < 0.001). Patients with PAH-Sch had 7% prevalence of pathogenic variants, compared to 11% in IPAH (p = 0.782). In both groups, patients with pathogenic variants had clinical and hemodynamic characteristics similar to the other patients. In the Sch-PAH group, the survival of patients with pathogenic variants was significantly lower (p = 0.035). Conclusion: The prevalence of pathogenic variants in Sch-PAH is similar to that found in IPAH and, likewise, its presence is associated with worse prognosis
149

Características genéticas de pacientes com hipertensão arterial pulmonar associada à  esquistossomose / Genetic characteristics of patients with pulmonary arterial hypertension associated with schistosomiasis

Francisca Alexandra Gavilanes Oleas 28 May 2018 (has links)
Introdução: Vários genes, particularmente os envolvidos na via de transcrição Transforming Growth Factor beta, estão claramente associados ao risco de desenvolvimento de hipertensão arterial pulmonar. Entretanto, pouco ou quase nada se sabe sobre a existência de fatores genéticos que possam estar associados a uma das formas mais prevalentes de hipertensão arterial pulmonar no mundo, a hipertensão arterial pulmonar associada a esquistossomose (HAP-Sch). O objetivo deste estudo foi avaliar a associação dos genes já descritos na hipertensão arterial pulmonar idiopática (HAPI) com a HAP-Sch. Método: Estudo transversal, comparando amostras de pacientes seguidos no ambulatório de Circulação Pulmonar no Instituto do Coração do HCFMUSP, com diagnóstico de HAP-Sch ou HAPI. Foram avaliadas as características genéticas nestes grupos quanto à presença de variantes patogênicas dos genes:BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, andSMAD9. Resultados: Foram incluídos 69 pacientes com HAP-Sch e 74 pacientes com HAPI. O grupo HAP-Sch apresentou idade mais avançada (52.1 ± 11.8 vs 41.5 ± 15.0; p = < 0,001) e débito cardíaco mais preservado ao diagnóstico (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). Cerca de 24% dos pacientes com HAPI apresentaram resposta aguda durante o teste de vasorreatividade, enquanto nenhum paciente com HAP-Sch apresentou resposta (p =< 0.001). Pacientes com HAP-Sch apresentaram 7% de variantes patogênicas, comparado com11% dos HAPI(p=0,782). Em ambos os grupos, pacientes portadores de variantes patogênicas possuíam características clínicas e hemodinâmicas semelhantes aos demais pacientes. No grupo HAP-Sch, a sobrevida dos portadores de variantes patogênicas foi significativamente menor (p=0.035). Conclusão: A prevalência de variantes patogênicas na HAP-Sch é semelhante à encontrada na HAPI e, da mesma forma, sua presença está associada a pior prognóstico / Background: Several genes, mainly those involved with the Transforming Growth Factor ? transcription pathway, are well-defined as risk factors for developing pulmonary arterial hypertension. Nevertheless, little is known about the existence of a genetic background associated with one of the most prevalent forms of pulmonary arterial hypertension worldwide, which is schistosomiasis associated pulmonary arterial hypertension (Sch-PAH). The aim of this study was to evaluate the association of genes already described in idiopathic pulmonary arterial hypertension (IPAH) with Sch-PAH. Method: A cross-sectional study comparing samples from patients followed at the Pulmonary Circulation clinic at the Heart Institute of HCFMUSP, diagnosed as Sch-PAH or IPAH. Genetic characteristics in these groups were evaluated for the presence of pathogenic variants of the genes: BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, and SMAD9.Results: A total of 69 patients with Sch-PAH and 74 patients with IPAH were included. The Sch-PAH group presented older age (52.1 ± 11.8 vs 41.5 ± 15.0, p =< 0.001) and higher cardiac output at diagnosis (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). About 24% of patients with IPAH presented acute response during the vasoreactivity test, whereas no Sch-PAH patient presented response (p = < 0.001). Patients with PAH-Sch had 7% prevalence of pathogenic variants, compared to 11% in IPAH (p = 0.782). In both groups, patients with pathogenic variants had clinical and hemodynamic characteristics similar to the other patients. In the Sch-PAH group, the survival of patients with pathogenic variants was significantly lower (p = 0.035). Conclusion: The prevalence of pathogenic variants in Sch-PAH is similar to that found in IPAH and, likewise, its presence is associated with worse prognosis
150

Estudo comparativo do acometimento medular entre a mielite transversa aguda idiopática e a neuromielite óptica / Comparative study of spinal cord involvement between idiopathic acute transverse myelitis and neuromyelitis optica

Feitoza, Pablo Vinícius Silveira 22 July 2016 (has links)
Introdução: A mielite transversa aguda é uma lesão inflamatória da medula espinhal, expressa por acometimento dos sistemas sensitivo, motor e autonômico. Entidade nosológica que pode representar um episódio de doença desmielinizante primária do sistema nervoso central e determina grande grau de incapacidade funcional. Objetivo: Caracterizar os aspectos clínicos, laboratoriais e de imagem que permitam distinguir o padrão de acometimento medular da mielite transversa aguda idiopática (MTAi) e a neuromielite óptica (NMO). Casuística e métodos: Estudo de casos e controles, retrospectivo, comparativo entre indivíduos com critérios diagnósticos para MTAi e NMO. Admitindo-se como dados estatisticamente significantes p < 0,05. Resultados: Foram incluídos 33 pacientes divididos em dois grupos, sendo 16 pacientes com o diagnóstico de MTAi e 17 pacientes com NMO. A evolução ao nadir deficitário foi de 6,25 ± 3,87 e 10 ± 4,04 dias nos grupos MTAi e NMO, respectivamente. As escalas de funcionalidade Rankin modificada e EDSS modificada aplicadas à admissão e à alta diferiram entre os grupos denotando maior comprometimento pela MTAi (p=0,001). O número de pacientes com EDSS à alta <= 3 foi 10,06 + 4,15 e > 3 foi 6,41 + 3,82 (p=0,014). Houve maior comprometimento axial > 50% da medula na MTAi (p=0,001). A mielite recorreu em 79% dos casos de NMO, enquanto em apenas 25% da MTAi. O anticorpo antiaquaporina 4 (82,35%) e a neurite óptica (88,2%) apresentaram maior associação à NMO. Conclusão: A MTAi apresenta uma evolução mais precoce ao nadir deficitário clínico, maior comprometimento concomitante dos sistemas sensitivo, motor e esfincteriano, maior grau de incapacidade funcional, mais frequentemente curso monofásico, maior comprometimento axial medular e mais dor lombar comparativamente à NMO. Enquanto a NMO apresentou mais frequentemente mielite recorrente, maior positividade para anticorpo antiaquaporina 4 e episódios de neurite óptica. / Introduction: Acute transverse myelitis is an inflammatory injury of the spinal cord, expressed by involvement of sensory, motor and autonomic systems. This nosological entity may represent an episode of primary demyelinating disease of the central nervous system and result in high degree of disability. Objective: To characterize the clinical, laboratory and imaging that can distinguish the pattern of spinal cord involvement of idiopathic acute transverse myelitis (iATM) and neuromyelitis optica (NMO). Methods: Retrospective, cases and controls study, comparison between individuals with diagnostic criteria for iATM and NMO. Admitting statistically significant data p <0.05. Results: 33 patients were included divided into two groups, 16 patients diagnosed with MTAi and 17 patients with NMO. The evolution to deficit nadir was 6.25 ± 3.87 and 10 ± 4.04 days in iATM and NMO groups, respectively. The admission and outcome Rankin functionality scales modified and modified EDSS differed between the groups showing greater commitment by iATM (p = 0.001). The number of patients with outcome EDSS <= 3 was 10.06 + 4.15 and > 3 was 6,41 + 3,82 (p=0,014). There was a greater axial involvement > 50% of the spinal cord in iATM (p = 0.001). The myelitis recurred in 79% of cases of NMO, whereas in only 25% of iATM. The antiaquaporina antibody 4 (82.35%) and optic neuritis (88.2%) showed greater association with NMO. Conclusion: iATM presents an early clinical evolution to deficit nadir, higher concomitant compromise of sensitive, motor and sphincter systems, higher degree of disability, most often monophasic course, most spinal axial involvement and more back pain compared to NMO. Meanwhile, NMO presented more often recurrent myelitis, higher positivity for antiaquaporina antibody 4 and episodes of optic neuritis.

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