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Does Transdermal Nicotine-Induced Withdrawal Suppression Depend on Smokers' Gender?Evans, Sarah Ellen 01 January 2005 (has links)
Nicotine replacement therapy (NRT) is a pharmacotherapy used commonly to help tobacco smokers quit smoking. All forms of NRT are demonstrably efficacious for this indication, and several forms, including transdermal nicotine (TN) are available over-the-counter in the United States. NRT is less efficacious in women than in men, although the specific reasons for this gender difference are unknown. NRT generally, and TN specifically, is thought to work, at least in part, by suppressing withdrawal symptoms in abstinent smokers. While TN-induced withdrawal suppression has been demonstrated, the degree to which this withdrawal suppression is influenced by smokers' gender is uncertain. The purpose of this acute laboratory study is to determine if TN-induced withdrawal suppression is influenced by smokers' gender.One hundred twenty eight overnight-abstinent smokers completed four, double-blind, randomized, 6.5-hour laboratory sessions in which further cigarette abstinence was required. Sessions differed by TN dose (0, 7, 21, or 42 mg). All sessions were double-blind and randomly ordered. Each session included regular assessment of subjective symptoms of nicotine/tobacco withdrawal, subjective effects of transdermal nicotine dose, psychomotor performance, heart rate and plasma nicotine level. Results from this laboratory study revealed clear nicotine dose-related effects for plasma nicotine and heart rate, symptoms of nicotine intoxication (e.g. Nausea, Lightheaded) and suppression of Urges to smoke and Craving. Many DSM IV nicotine/tobacco withdrawal symptoms did not show dose-related suppression (e.g. Irritability/frustration/anger, Anxious, Difficulty concentrating). Importantly, results from this study indicated that there were very few differences between men and women in nicotine-induced suppression of the nicotine/tobacco withdrawal syndrome. Future research addressing this important issue may benefit from focusing on a potential interaction between gender and other effects of TN (i.e., blunting the effects of a concurrently administered cigarette) and/or on other triggers for relapse (i.e., smoking-related stimuli).
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Renal transplantation in children : epidemiology, practices and improvement of outcomes in Europe / Transplantation rénale chez l’enfant : épidémiologie, pratiques et devenir clinique en EuropeHarambat, Jérôme 02 December 2013 (has links)
L’insuffisance rénale chronique (IRC) terminale est une situation peu fréquente chez l’enfant mais a des conséquences importantes sur la survie et la qualité de vie. De nos jours, la majorité des enfants en IRC terminale en Europe vont recevoir une greffe de rein après un traitement de suppléance par dialyse ou de manière préemptive après un traitement conservateur de l’insuffisance rénale. Les objectifs de cette thèse sont de décrire l’épidémiologie de l’IRC chez l’enfant, d’évaluer les différences de pratiques et d’accès à la greffe rénale entre pays Européens, et d’investiguer le devenir clinique après transplantation, notamment la survie du greffon, la croissance, et la récidive de la maladie initiale sur le greffon. Premièrement, une revue de littérature sur l’épidémiologie de l’IRC chez l’enfant a été réalisée. Deuxièmement, nous avons mis en évidence par une enquête d’importantes variations de pratiques, de politiques d’allocation des greffons rénaux et d’accès à la greffe rénale pédiatrique à travers l’Europe. Des facteurs tels que le taux de greffe avec donneur vivant, la priorité nationale donnée aux enfants pour les donneurs décédés, ou un indicateur de richesse tel que le produit intérieur brut étaient associés à un meilleur accès à la greffe par pays. Troisièmement, l’étude du devenir après greffe par des études observationnelles a montré une amélioration de de la survie des greffons et de la taille à l’âge adulte après IRC terminale dans l’enfance. En utilisant l’oxalose comme exemple de maladie à haut risque de révidive, nous avons trouvé que le pronostic des enfants atteints d’oxalose en IRCT s’est amélioré au cours du temps. Il a été possible de déterminer quelles pratiques cliniques sont associées avec le meilleur devenir. L’ensemble de ces résultats suggère une augmentation de la prévalence et une meilleure prise en charge des enfants transplantés du rein en Europe. / Although end-stage renal disease (ESRD) is a rare condition in children, it has major consequences on their survival and quality of life. Most children with ESRD in Europe nowadays receive a renal transplant after variable periods of renal replacement therapy (RRT) with dialysis, or preemptively after conservative treatment of chronic kidney disease (CKD). The objectives of this thesis are to describe the epidemiology of CKD in children, to evaluate the differences of practices and access to transplant in Europe, and to investigate post transplant outcomes including graft survival, final height and disease recurrence. First, a literature review of the available data on pediatric CKD epidemiology was performed. Second, we analyzed the differences in transplantation practices, kidney allocation policies and access to transplantation between European countries in a survey study. Living donor transplant rate, national priority given to children, and an economic indicator like gross domestic product were found to be associated with a better access to transplantation by country. Third, we assessed post transplantation outcomes in longitudinal observational studies, including data from the European registry. We showed an improvement of graft survival and of adult height after childhood RRT over the years. Using oxalosis as an example of a rare disease with high risk of recurrence, we also found that the prognosis on RRT of children with such a disease improved over time. Some practices associated with better outcomes could be identified. Overall, our findings suggest an increasing prevalence and progress in the management of pediatric kidney transplant recipients in Europe.
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Perfil clínico e nutricional de pacientes submetidos à ressecção pancreática em terapia de reposição de enzimas pancreáticas / Clinical and nutritional profile of patients undergoing pancreatic enzyme replacement therapy after pancreatic resectionSilva, Anna Victoria Borges Fragoso Rodrigues da 11 July 2017 (has links)
INTRODUÇÃO: Após a cirurgia pancreática, a função exócrina é determinada pela extensão da ressecção e a quantidade de tecido pancreático remanescente, sendo recomendável a avaliação da insuficiência pancreática exócrina (IPE) em todos os pacientes. A reposição de enzimas pancreáticas é o pilar do tratamento da IPE, pois melhora a absorção de gordura, diminui os sintomas relacionados com a má absorção e melhora a qualidade de vida (QV). OBJETIVO: Sabendo que o ajuste da dose de enzimas pancreáticas é realizado com base nos sinais clínicos relatados pelo paciente, o presente estudo visa aprofundar a avaliação clínica destes e avaliar o atual protocolo de tratamento, mantendo ou melhorando a QV dos pacientes. MÉTODOS: Estudo transversal em que foram avaliados adultos com histórico de ressecção pancreática há 6 meses ou mais. No tempo 1 foi realizada avaliação nutricional antropométrica e recordatório alimentar, avaliação clínica de qualidade de vida (questionário SF-36), investigação hábitos intestinais e exames laboratoriais. No tempo 2 foi realizada nova consulta para discussão dos resultados e orientação nutricional individualizada. Para análise de correlações foi usado o teste de Pearson, para associações o teste de Fisher e para comparação de médias o teste Mann-Whitney. RESULTADOS: Foram avaliados 39 pacientes, 22 (56,4%) do sexo feminino; 33 (84,6%) >=60 anos; tempo pós operatório 14,1± 6,8 anos; exames bioquímicos: em todas as dosagens a maioria dos pacientes apresenta resultados dentro dos valores de referência, mas há alta prevalência de deficiência de vitaminas lipossolúveis; os pacientes têm bom estado nutricional já que grande parte apresenta eutrofia segundo o IMC (46,1%) e segundo a porcentagem de gordura (35,9%); no geral não relatam sintomas gastrointestinais adversos: 61,5% com fezes formadas, 53,8% sem dor abdominal, 84,6% sem esteatorreia; adequação no consumo de macronutrientes: 51,3% consumo adequado de carboidratos e lipídios, e 64,1% de consumo excessivo de proteínas; correlações positivas: a dose de enzimas se correlaciona com a dor (p= 0,004) e o IMC (p= 0,009), ou seja, pacientes que relatam mais dor e que pesam mais são os que recebem as maiores doses de enzimas pancreáticas; correlações negativas: capacidade funcional e parâmetros de avaliação nutricional como IMC (p=0,004), e porcentagem de gordura (p=0,028), e também parâmetros clínicos como a dose de enzimas (p=0,022) e o número de evacuações por dia (p=0,024); associações: a inadequação do consumo de lipídios na dieta está associada com importantes sintomas gastrointestinais como a consistência amolecida das fezes (p=0,005) e flatulência (p=0,012) e ressalta a importância da orientação nutricional aos pacientes em reposição de enzimas pancreáticas. CONCLUSÃO: A maioria dos pacientes apresentou bons resultados de exames bioquímicos, qualidade de vida, consumo de macronutrientes, estado nutricional e sintomas gastrointestinais. Observaram-se importantes correlações e associações que demonstram que o estado nutricional, o consumo alimentar e a dose de enzimas interferem nos sintomas gastrointestinais e na auto-percepção de qualidade de vida dos pacientes. Sendo assim, o atual protocolo é válido, mas deve ser associado a orientação nutricional individualizada / BACKGROUND: After pancreatic surgery, exocrine function is determined by the extent of resection and the amount of remaining pancreatic tissue, and all patients should be evaluated for exocrine pancreatic insufficiency (EPI). Pancreatic enzyme replacement is the mainstay of EPI treatment, since it improves fat absorption, reduces symptoms related to malabsorption and improves quality of life (QoL). OBJECTIVE: Knowing that the adjustment of pancreatic enzymes dose is based on the clinical signs reported by the patient, the present study aims to deepen the clinical evaluation and to evaluate the current protocol of treatment, maintaining or improving patients quality of life. METHODS: A cross-sectional study in which adults were evaluated 6 months or more after pancreatic resection. At time 1, anthropometric evaluation and food recall, clinical evaluation of quality of life (SF-36 questionnaire), intestinal habits and laboratory tests were performed. At time 2 a new consultation was conducted to discuss the results and to provide individualized nutritional guidance. For the correlations analysis the Pearson test was used, for associations the Fisher test and for comparison of means the Mann-Whitney test. RESULTS: 39 patients were evaluated, 22 (56.4%) female; 33 (84.6%) >= 60 years; Time after surgery 14.1 ± 6.8 years; Biochemical tests: at all dosages most patients present results within the reference values, but there is a high prevalence of fat-soluble vitamins deficiency; The patients have good nutritional status since a great part presents eutrophy according to the BMI (46.1%) and according to the percentage of body fat (35.9%); In general they do not report adverse gastrointestinal symptoms: 61.5% with feces formed, 53.8% without abdominal pain, 84.6% without steatorrhea; Adequacy in macronutrient consumption: 51.3% adequate consumption of carbohydrates and lipids, and 64.1% excessive consumption of proteins; Positive correlations: enzyme dose correlates with pain (p = 0.004) and BMI (p = 0.009); that is, patients who report more pain and who weigh more are those who receive the highest doses of pancreatic enzymes; Negative correlations: functional capacity and nutritional assessment parameters such as BMI (p = 0.004), and body fat percentage (p = 0.028), as well as clinical parameters such as enzyme dose (p = 0.022) and number of bowel movements per day p=0.024); Associations: the dietary lipid consumption inadequacy is associated with important gastrointestinal symptoms such as soft stool consistency (p=0.005) and flatulence (p=0.012), and emphasizes the importance of nutritional guidance to patients on pancreatic enzyme replacement therapy. CONCLUSION: Most patients presented good results of biochemical tests, quality of life, macronutrient consumption, nutritional status and gastrointestinal symptoms. Significant correlations and associations have been observed that evidence that nutritional status, food intake and enzyme dose interferes with gastrointestinal symptoms and self-perceived quality of life of patients. Therefore, the current protocol is valid, but should be associated with individualized nutritional guidance
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Patientens upplevelse i samband med dialysbehandling : En litteraturöversikt / Patient experience in dialysis treatment : A literature reviewChamoun, Sandi January 2019 (has links)
Bakgrund:Dialysbehandling är en livslång behandling och kräver att patienten följer upp behandlingsrytmen för att kunna uppnå högsta möjliga livskvalitet. Olika livsförändringar uppstår i samband med uppkomsten av njurinsufficiens och påbörjad dialysbehandling. Livet med dialys innebär ofta ett helt nytt liv för patienterna. Syfte: Att beskriva upplevelser av dialysbehandling hos vuxna patienter med njurinsufficiens. Metod:En litteraturöversikt har använts som metod för att besvara arbetets syfte. Tretton vetenskapliga artiklar har analyserats med hjälp av fem olika steg framtagna av Fribergs analysmetod. Huvudresultat:patienterna upplevde brist på information, behov av egen kontroll, förlust av aktiviteter och sociala relationer. Ibland upplevde patienterna behandlingen som påfrestande och hade svårt att anpassa livet efter det. Rädsla upplevdes också av de flesta patienterna, men däremot kunde säkerhet och trygghet upplevas när patienterna fick sin behandling av vårdpersonal som hade tillräckligt med kunskap och erfarenhet och när de hade familjen och vänner runt om sig. Slutsats:Patienterna hade både positiva och negativa upplevelser i samband med dialysbehandlingen. Vårdpersonalen och familjen spelade en viktig roll i patienterna liv och deras existens gjorde en inverkan i hur patienterna upplevde sin dialysbehandling. / Background:Dialysis treatment is a lifelong treatment and requires the patient to follow up on the treatment rhythm in order to achieve the highest possible quality of life. Different life changes occur in connection with the onset of renal insufficiency and initiated dialysis treatment. Life with dialysis often means a completely new life for patients. Aim:To describe the experiences of dialysis treatment in adult patients with renal insufficiency. Method:A literature review has been used as method for answering the purpose of this work. Thirteen scientific articles have been analyzed using five different steps developed by Friberg’s analysis method. Results:Patients experienced a lack of information, a need of own control, loss of activities and social relations. Sometimes patients experienced the treatment as stressful and had difficulty adjusting life after that. Fear was also experienced by most patients, but on the other hand, safety and security could be experienced when patients received their treatment by healthcare professionals who had enough knowledge and experience and also when they had family and friends around them.Conclusion: The patients had both positive and negative experiences in connection to the dialysis treatment. The healthcare staff and the family had an important role in the patients' lives and their existence made an impact on how the patients experienced their dialysis treatment.
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Prise en charge et facteurs pronostiques des épisodes d'insuffisance circulatoire aiguë chez des patients atteints d'Hypertension Artérielle pulmonaire / Management and prognostic factors of acute circulatory failure in patients with Pulmonary Arterial HypertensionSztrymf, Benjamin 04 December 2013 (has links)
L’hypertension artérielle pulmonaire (HTAP) est une maladie caractérisée par une obstruction des artères pulmonaires de petit calibre aboutissant, à terme, à une défaillance cardiaque droite. L’évolution de cette maladie est parfois émaillée d’épisodes de dégradation de l’état fonctionnel des patients, nécessitant une admission en unité de soins intensifs pour surveillance cardioscopique et administration de médicaments inotropes et/ou vasopresseurs. Peu d’éléments permettent à ce jour de guider les praticiens dans la prise en charge de ces patients et la physiopathologie de ces épisodes est assez peu connue.Dans un premier temps, nous avons retrouvé une mortalité de 41% en réanimation et testé certains facteurs pronostiques cliniques et biologiques simples issus de la pratique quotidienne dans une cohorte propective de patients avec une prise en charge standardisée. Nous avons identifié comme facteurs pronostiques la pression artérielle systémique, la natrémie, la créatininémie, la valeur de la C-reactive Proteine. Nous avons retrouvé une influence de ces épisodes sur l’évolution à moyen terme de ces épisodes. Dans un second temps nous avons testé la valeur pronostique des indices temporels de fonctionnement du ventricule gauche, suggérée par les études en imagerie par résonnance magnétique. Nous avons utilisé pour cela la tonométrie d’aplanation, outil original et non invasif. Nous avons retrouvé que la valeur de la durée d’éjection du ventricule gauche est associée au pronostic. Dans une troisième partie nous avons mesuré les conséquences et la valeur pronostique de l’épuration extra rénale en contexte d’ insuffisance rénale menaçante chez ces patients. Dans une étude rétrospective, nous avons observé 68 séances d’épuration extra-rénale continue ou discontinue. Ces séances se sont compliquées d’hypotension artérielle dans environ 50% des cas. La très haute mortalité en réanimation et à 3 mois, respectivement de 47% et 73%, soulève la question de la place de l’assistance circulatoire et de la transplantation urgente chez ces patients. Ces données soulignent la sévérité à court terme des épisodes aigus d’aggravation chez les patients porteurs d’HTAP. De plus amples données sont nécessaires pour améliorer la prise en charge de ces patients et organiser dans le meilleur délai la mise en place de thérapeutiques exceptionnelles comme l’assistance circulatoire et la transplantation pulmonaire ou cardio-pulmonaire. / Pulmonary arterial hypertension ( PAH) is a disease characterized by an obstruction of the small pulmonary arteries leading ultimately to right heart failure. The evolution of this disease is sometimes punctuated by episodes of deterioration of the functional status of patients requiring admission to intensive care unit for monitoring and administration of inotropic drugs and / or vasopressors. Few evidence to date are available to guide physicians in the care of these patients and the pathophysiology of these episodes is still elusive.In a first part, we found a mortality of 41% in the intensive care unit (ICU) and tested some simple clinical and biological prognostic factors from the daily practice in a prospective cohort of patients with a standardized management. We have identified systemic blood pressure, serum sodium, serum creatinine, serum C -reactive Protein as prognostic factors. We found an influence of these events on the medium-term evolution of the patients.In a second step we tested the prognostic value of time derived indices of left ventricular function, variables suggested by magnetic resonance imaging studies. In this purpose, we used aplanation tonometry, an original and non-invasive tool. We found that the value of the left ventricular ejection time was associated with in ICU prognosis.In the third part we measured the impact and prognostic value of renal replacement therapy in case of threatening kidney failure in these patients. In a retrospective study, we observed 68 sessions of renal replacement therapy, continuous hemofiltration and intermittent hemodialysis. These sessions were complicated by hypotension in 50 % of cases. The high in ICU mortality and three months mortilty, respectively 47% and 73%, raises the question of the role of extracorporeal life support and urgent transplantation in these patients.These data underscore the severity of acute worsening in patients with PAH. More data are needed to improve the management of these patients and determine the best timing of exceptional treatment such as circulatory support and pulmonary or cardiopulmonary transplantation.
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"Análise da deficiência androgênica e terapia de reposição em homens idosos" / Analysis of the androgenic deficiency and replacement therapy in elderdy menLopes, Eduardo José Andrade 10 September 2004 (has links)
A deficiência androgênica acomete um percentual de homens idosos ainda não bem definido na literatura. São usados parâmetros séricos hormonais de homens jovens, e apesar disto, a terapia de reposição da testosterona vem sendo defendida e utilizada largamente por muitos autores. Várias vias de reposição são usadas tentando simular o ciclo fisiológico de produção das testosteronas. Parece que a transdérmica é a que mais se aproxima do ideal. A relação câncer de próstata e testosterona é pouco compreendida. O receio do estímulo de um câncer oculto pela terapia de reposição não foi devidamente afastado. O tratamento deve ser instituído quando o quadro clínico e laboratorial for evidente. / The androgenic deficiency attacks a percentage of elderly men not well defined in literature yet. Hormonal serum parameters of young men are used and, in spite of that, the testosterone replacement therapy has been widely supported and used by many authors. Various ways of replacement are used trying to simulate the physiological cycle of the testosterone production. It seems that the transdermic is the one closest to the ideal. The relation of prostate cancer and testosterone is little understood. The fear of the stimulation of a concealed cancer by the replacement therapy has not been properly eliminated. The treatment should be indicated when the clinical and laboratorial was defined.
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Antibiotic adsorption by haemofilters /cTian, Qi. / 血濾器對抗生素的吸附 / CUHK electronic theses & dissertations collection / Xue lü qi dui kang sheng su de xi fuJanuary 2007 (has links)
A high-performance liquid chromatography was developed to assay levofloxacin and vancomycin. Fluorescence polarization immunoassay was to assay amikacin. The oseltamivir carboxylate and telavancin concentrations were assayed by high-performance liquid chromatography coupled with tandem mass spectrometry. / An in vitro model was utilized to examine adsorption of antibiotics onto haemofilters. In order to test antibiotics from a range of classes, levofloxacin, amikacin, vancomycin, telavancin, and oseltamivir carboxylate were studied. / In summary, the antibiotic adsorption by haemofilters is a complex process. Both characteristics of antibiotics and haemofilters may determine adsorption. Among the studied antibiotics, in vitro adsorption of amikacin by PAN filters may have clinical significance, thus the routine monitoring of amikacin peak concentration in vivo during CRRT is recommended. / In the in vitro model, blood was pumped from an agitated, glass mixing chamber (heated using an automatic water bath), around a circuit and returned to the mixing chamber using a haemofiltration machine. Ultrafiltrate was also returned to the mixing chamber to constitute a closed circuit. As a result any decrease in drug concentration could only be due to adsorption to the filter and extracorporeal circuit, spontaneous degradation or metabolism by red cells. / The main findings were: (1) low adsorption of levofloxacin and vancomycin by haemofilters at clinically relevant concentrations; (2) significant absolute adsorption of amikacin by polyacrylonitrile haemofilters; (3) the adsorption of antibiotics was membrane-material dependent with greater adsorption by polyacrylonitrile filters; (4) lack of relationship between membrane surface area and amikacin adsorption; (5) the adsorption of levofloxacin is reversible, contrary to irreversibility of vancomycin and amikacin; (6) sieving coefficient of oseltamivir is very near to 1.0. / This thesis investigated: (1) the extent of antibiotic adsorption (levofloxacin, vancomycin, amikacin, telavancin and oseltamivir carboxylate) by haemofilters; (2) the time course of antibiotic adsorption by haemofilters; (3) the effects of plasma albumin concentration, initial dosage, pH, filter membrane material, filter membrane surface area and repeated dosing on adsorption; (4) the reversibility or irreversibility of adsorption; (5) clearance of oseltamivir carboxylate and telavancin by ultrafiltration. / Up to 25% of critically ill patients develop acute renal failure with sepsis being the most common cause. Outside of North and South America, these patients usually receive continuous renal replacement therapy (CRRT) which utilizes high flux haemofilter membranes. Thus it is common for these patients to be concurrently receiving antibiotics and CRRT. However, information about the adsorptive capacity of various haemofilters for most drugs is lacking. / "September 2007." / Advisers: Charles Gomersall; Tony Gin. / Source: Dissertation Abstracts International, Volume: 69-08, Section: B, page: 4659. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2007. / Includes bibliographical references (p. 147-164). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract in English and Chinese. / School code: 1307.
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Estudo sobre as manifestações gastrointestinais em pacientes com mucopolissacaridosesGiugliani, Luciana January 2013 (has links)
Introdução: As Mucopolissacaridoses (MPS) são doenças lisossômicas causadas pela deficiência de enzimas envolvidas na degradação dos glicoaminoglicanos. O acúmulo anormal dessa molécula compromete a função celular e orgânica, levando a um espectro de manifestações clínicas, de caráter multissistêmico e progressivo. Manifestações gastrointestinais, tais como episódios frequentes de fezes amolecidas e diarréia, têm sido frequentemente evidenciadas e relatadas por pacientes com MPS. Ainda que os sintomas gastrointestinais sejam frequentemente ofuscados pelos fenótipos neurológicos graves, eles podem afetar a qualidade de vida dos pacientes e de seus familiares. Objetivo: Avaliar as manifestações gastrointestinais em pacientes com MPS que estavam ou não recebendo Terapia de Reposição Enzimática (TRE). Adicionalmente, para melhor compreender o assunto, avaliamos a histologia da mucosa intestinal em camundongos com MPS I. Métodos: Estudo transversal com amostragem de conveniência. Foram incluídos no estudo pacientes com diagnóstico de qualquer tipo de MPS que estavam ou não em TRE. Os sujeitos foram avaliados através de inquérito alimentar, questionamentos quanto ao aparecimento de sintomas gastrointestinais e realização de uma série de exames bioquímicos. Adicionalmente, foram realizados testes de bioimpedância elétrica (para avaliação da composição corporal) e teste molecular para hipolactasia primária a partir de amostras de DNA dos pacientes, assim como análise da histologia da mucosa intestinal em um modelo de camundongo com MPS I. Resultados: Foram incluídos 27 pacientes com diferentes tipos de MPS, sendo 15 (55,6%) do sexo feminino e 12 (44,4%) do sexo masculino, com mediana de idade de 12 (1-28) anos. Os sintomas gastrointestinais mais prevalentes foram flatulência, distensão abdominal, dor abdominal e fezes amolecidas. Houve diferença significativa na prevalência de flatulência entre os tipos de MPS (p=0,004). A prevalência de flatulência e de distensão abdominal foi significativamente maior no grupo dos que não recebiam TRE, em comparação ao grupo dos que recebia TRE (p = 0,04 e 0,03, respectivamente). A maioria dos exames bioquímicos realizados para investigação e/ou exclusão de alguma patologia específica apresentaram resultados normais, sugerindo que o aparecimento de sintomas gastrointestinais nesses pacientes possa ser decorrente da própria MPS através de mecanismo fisiopatológico independente. A análise da histologia do intestino delgado de camundongos MPS I identificou células aumentadas de volume, sugerindo algum tipo de acúmulo intracelular. Em relação ao Teste Molecular para Hipolactasia, 58,8% dos pacientes apresentaram genótipo CC, o qual é compatível com intolerância à lactose. Os exames de Bioimpedância Elétrica sugerem que, os pacientes em TRE apresentam menor proporção de massa gorda (MG) em relação aos pacientes que não estavam em TRE. Conclusão: Este foi o primeiro estudo sobre manifestações gastrointestinais de pacientes brasileiros com MPS realizado em nosso meio. Inúmeros sinais e sintomas foram observados, com maior prevalência relativa nas MPS I, II, III e IV do que na MPS VI. O sintoma mais frequentemente relatado foi flatulência. Embora não tenha sido estatisticamente significativo a diferença, a proporção de pacientes com sintomas gastrointestinais foi menor nos pacientes que estavam em TRE. A Intolerância à lactose observada em maior proporção nos pacientes com MPS com manifestações gastrointestinais, a avaliação da composição corporal e as alterações observadas na mucosa intestinal do camundongo com MPS I devem ser levadas em consideração na interpretação dos resultados. Acreditamos que mais estudos, dirigidos para as manifestações gastrointestinais, devam ser realizados para comprovar esses achados e melhor compreender os mecanismos fisiopatológicos dos sintomas relacionados nos pacientes aferidos. / Introduction: The mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by a deficiency in enzymes involved in glycosaminoglycan degradation. Abnormal accumulation of this molecule compromises cellular and organic function, leading to a spectrum of progressive, multisystem clinical manifestations. Gastrointestinal manifestations, such as frequent episodes of loose stools and diarrhea, are often reported by patients with MPS. Although these gastrointestinal symptoms are often overshadowed by severe neurological phenotypes, they can have a negative impact on the quality of life of patients and their family members. Objective: To assess gastrointestinal manifestations in patients with MPS who were or not receiving enzyme replacement therapy (ERT). Furthermore, we sought to assess bowel mucosa histology in a mouse model of MPS I. Methods: Cross-sectional study with a convenience sampling strategy. The sample comprised patients with a diagnosis of MPS of any type and regardless of ERT status. Patients were assessed by means of a dietary recordatory and an interview focused on gastrointestinal symptoms, as well as a battery of biochemical tests. Bioelectrical Impedance was performed for body composition assessment.Patient DNA samples were also tested by molecular tests for primary lactase hypolactasia, and bowel mucosa specimens from MPS I mice underwent histological examination. Results: A total of 27 MPS patients were included, 15 (55.6%) female and 12 (44.4%) male, with a median age of 12 (1-28) years. The most prevalent gastrointestinal symptoms were flatulence, abdominal distension, abdominal pain, and loose stools. A significant difference in the prevalence of flatulence was observed among different MPS types (p=0.004). The prevalence of flatulence and abdominal distension was significantly higher in the non-ERT group than in the ERT group (p = 0.04 and 0.03 respectively). Most biochemical tests performed to work up and/or rule out specific conditions were within normal limits, which suggests that the development of gastrointestinal systems in these patients may be due to MPS itself through an independent pathophysiological mechanism. Histological analysis of smallbowel tissue from MPS I mice found increased cell volume indicative of some form of intracellular accumulation. On molecular testing for lactase deficiency, 58.8% of patients had the CC genotype, which is consistent with lactose intolerance. Bioelectrical Impedance analysis suggest that patients with TRE have lower proportion of fat mass (FM) compared to patients who were not on ERT. Conclusion: This was the first study to assess gastrointestinal manifestations in Brazilian patients with different MPS subtypes.Several signs and symptoms were observed with higher relative prevalence in MPS I, II, III and IV to that in MPS VI. The most frequently reported symptom was flatulence. Although was no statistical difference the proportion of patients with gastrointestinal symptoms was lower in patients on ERT.The lactose intolerance observed in a higher proportion of MPS patients with gastrointestinal manifestations, body composition assessment and observed changes in the bowel mucosa of MPS I mice should be taken into account when interpreting the results. Further studies focusing on the gastrointestinal manifestations of MPS are warranted to corroborate our findings and provide a better understanding of the pathophysiological mechanisms associated with these symptoms in affected patients.
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A influência da idade e da reposição hormonal sobre a modulação autonômica do coração e o limiar de anaerobiose. / Influence of age and hormonal replacement on the autonomic modulation of the heart and the anaerobisis threshold.Neves, Valeria Ferreira Camargo 13 March 2003 (has links)
Este trabalho teve por objetivo avaliar a modulação autonômica da freqüência cardíaca (FC) durante o repouso, nas posições supina e sentada, e durante teste de esforço físico dinâmico descontínuo do tipo degrau (TEFDD-D) em mulheres jovens e pós-menopausa sem (PMSRH) e com reposição hormonal (PMCRH); determinar o limiar de anaerobiose (LA) a partir da análise das respostas de FC e pela análise dos índices de RMSSD (raiz quadrada da média dos quadrados das diferenças entre os intervalos R-R normais sucessivos), em milissegundos (ms), e comparar o grau de correlação entre estas duas metodologias de análise. Foram estudadas 11 jovens (24 ± 2,77 anos), 13 PMSRH (57 ± 5,28) e 9 PMCRH (55 ± 5,40 anos). O TEFDD-D foi realizado em cicloergômetro, sendo iniciado com a potência de 15 W e com incrementos de 5 em 5 W. A FC (bpm) e os intervalos R-R (ms) foram captados em tempo real, por um período de 360s em repouso, em cada posição, e durante 60s em repouso sentado no cicloergômetro, 240s em exercício e 60s em recuperação, em cada potência do TEFDD-D. Foram calculados as médias da FC (bpm) e os índices de RMSSD dos intervalos R-R (ms) para as condições de repouso e durante 180s do exercício nas potências estudadas; cálculo da variação da FC (bpm) no início do exercício e do tempo (s) desta variação. A determinação do LA foi feita pelo ajuste do modelo matemático e estatístico semiparamétrico (SPM) aos dados de FC e pelos índices de RMSSD dos intervalos R-R (ms). Os testes estatísticos utilizados foram: Wilcoxon, Kruskall-Wallis, Friedman, Dunn e o teste de correlação de Spearman, nível de significância de 5%. Durante o repouso, as jovens apresentaram valores dos índices de RMSSD significativamente (p<0,05) superiores em relação aos outros 2 grupos. As variações da FC das jovens no início do exercício foram maiores que as dos grupos PMSRH e PMCRH, enquanto que o tempo de variação da FC foi similar entre os 3 grupos. Na transição do repouso para o exercício, a FC aumentou progressivamente, enquanto que a variabilidade da freqüência cardíaca (VFC) diminuiu. Na comparação intergrupo dos índices de RMSSD, obtidos em cada nível de potência, foi observada diferença significativa (p<0,05) apenas em 35W. Tanto pelo modelo SPM, como pela análise dos índices de RMSSD, as jovens atingiram o LA em potências superiores comparativamente as PMSRH e PMCRH. Os grupos PMSRH e PMCRH apresentaram resultados similares. Não foram observadas diferenças significativas (p>0,05) na comparação dos 2 métodos. O teste de correlação de Spearman mostrou uma associação significativa (p<0,05) entre os mesmos. Estes dados sugerem que após a menopausa ocorre uma diminuição da modulação vagal sobre o coração tanto em repouso como durante o exercício físico, decorrente do processo do envelhecimento e da redução da capacidade física. A terapia de reposição hormonal não teve nenhuma influência sobre os resultados. As duas metodologias de análise do LA se mostraram similares, sugerindo que a mudança de inclinação da resposta da FC ocorre em níveis de esforço em que a VFC se encontra significativamente reduzida. / The objectives of the present study were to assess the autonomic modulation of the heart rate (HR) at rest, in the supine and sitting position, and during a step type discontinuous dynamic physical effort (STDDPE) in young and postmenopausal women not receiving (PMWtHR) and receiving hormonal replacement treatment (PMWHR); to determine the anaerobiosis threshold (AT) based on the analysis of HR response and the RMSSD indices (square root of the mean squared differences of successive R-R intervals), in milliseconds (ms), and to compare the degree of correlation between these two analysis methodologies. The study was conducted on 11 young women (24 ± 2.77 years), 13 PMWtHR (57 ± 5.28) and 9 PMWHR (55 ± 5.40 years). The STDDPE was performed on a bicycle ergometer at an initial power of 15 W, followed by power increments of 5 W. HR (bpm) and R-R intervals (ms) were obtained in real time over a period of 360 s under resting conditions in each position, during 60 s in the sitting rest position on the bicycle ergometer, 240 s during exercise and 60 s during recuperation at each STDDPE power. Mean HR (bpm) and RMSSD indices of the R-R intervals (ms) were calculated for the resting condition and during 180 s of exercise in the powers studied; the HR variation (bpm) and its time (s) were also calculated in the beginning of exercise. AT was determined by the semiparametric mathematical and statistical model (PMS) and by the RMSSD indices of the R-R intervals (ms). Data were analyzed statistically by the Wilcoxon, Kruskal-Wallis, Friedman, Dunn and Spearman correlation tests, with the level of significance set at 5%. During rest, young women presented significantly higher RMSSD indices (p<0.05) than the other 2 groups. The HR variations in young women in the beginning of the exercise were higher than the ones from the PMWtHR and PMWHR groups, whereas HR variations time was similar for the 3 groups. During the transition from rest to exercise HR increased progressively and HRV decreased. Intergroup comparison of RMSSD indices, obtained in each level of power, showed a significant difference (p<0.05) only at 35 W power. On both PMS model and RMSSD indices analysis, young women reached AT at a higher power compared to PMWtHR and PMWHR groups. The PMWtHR and PMWHR groups presented similar results. No significant differences (p>0.05) were observed when the methods were compared. The Spearman correlation test showed a significant association (p<0.05) between methods. These data suggest that after menopause there is a decrease in vagal modulation of the heart both at rest and during physical exercise due to the aging process and the reduction in physical capacity. Hormonal replacement therapy had no effect on the results. Both methodologies of AT analysis were similar, suggesting that the change in the HR response occurs in levels of effort in which the HRV is significantly reduced.
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Reconnaissance et mimétisme des émotions exprimées sur le visage : vers une compréhension des mécanismes à travers le modèle parkinsonien / Facial emotion recognition and facial mimicry : new insights in Parkinson's diseaseArgaud, Soizic 07 November 2016 (has links)
La maladie de Parkinson est une affection neurodégénérative principalement associée à la dégénérescence progressive des neurones dopaminergiques du mésencéphale provoquant un dysfonctionnement des noyaux gris centraux. En parallèle de symptômes moteurs bien connus, cette affection entraîne également l’émergence de déficits émotionnels impactant en outre l’expression et la reconnaissance des émotions. Ici, se pose la question d’un déficit de reconnaissance des émotions faciales chez les patients parkinsoniens lié au moins en partie aux troubles moteurs. En effet, selon les théories de simulation des émotions, copier les émotions de l’autre nous permettrait de mieux les reconnaître. Ce serait le rôle du mimétisme facial. Automatique et inconscient, ce phénomène est caractérisé par des réactions musculaires congruentes à l’émotion exprimée par autrui. Dans ce contexte, une perturbation des capacités motrices pourrait conduire à une altération des capacités de reconnaissance des émotions. Or, l’un des symptômes moteurs les plus fréquents dans la maladie de Parkinson, l’amimie faciale, consiste en une perte de la mobilité des muscles du visage. Ainsi, nous avons examiné l’efficience du mimétisme facial dans la maladie de Parkinson, son influence sur la qualité du processus de reconnaissance des émotions, ainsi que l’effet du traitement dopaminergique antiparkinsonien sur ces processus. Pour cela, nous avons développé un paradigme permettant l’évaluation simultanée des capacités de reconnaissance et de mimétisme (corrugator supercilii, zygomaticus major et orbicularis oculi) d’émotions exprimées sur des visages dynamiques (joie, colère, neutre). Cette expérience a été proposée à un groupe de patients parkinsoniens comparé à un groupe de sujets sains témoins. Nos résultats supportent l’hypothèse selon laquelle le déficit de reconnaissance des émotions chez le patient parkinsonien pourrait résulter d’un système « bruité » au sein duquel le mimétisme facial participerait. Cependant, l’altération du mimétisme facial dans la maladie de Parkinson et son influence sur la reconnaissance des émotions dépendraient des muscles impliqués dans l’expression à reconnaître. En effet, ce serait davantage le relâchement du corrugateur plutôt que les contractions du zygomatique ou de l’orbiculaire de l’œil qui nous aiderait à bien reconnaître les expressions de joie. D’un autre côté, rien ne nous permet ici de confirmer l’influence du mimétisme facial sur la reconnaissance des expressions de colère. Enfin, nous avons proposé cette expérience à des patients en condition de traitement habituel et après une interruption temporaire de traitement. Les résultats préliminaires de cette étude apportent des éléments en faveur d’un effet bénéfique du traitement dopaminergique tant sur la reconnaissance des émotions que sur les capacités de mimétisme. L’hypothèse d’un effet bénéfique dit « périphérique » sur la reconnaissance des émotions par restauration du mimétisme facial reste à tester à ce jour. Nous discutons l’ensemble de ces résultats selon les conceptions récentes sur le rôle des noyaux gris centraux et sous l’angle de l’hypothèse de feedback facial. / Parkinson’s disease is a neurodegenerative condition primarily resulting from a dysfunction of the basal ganglia following a progressive loss of midbrain dopamine neurons. Alongside the well-known motor symptoms, PD patients also suffer from emotional disorders including difficulties to recognize and to produce facial emotions. Here, there is a question whether the emotion recognition impairments in Parkinson’s disease could be in part related to motor symptoms. Indeed, according to embodied simulation theory, understanding other people’s emotions would be fostered by facial mimicry. Automatic and non-conscious, facial mimicry is characterized by congruent valence-related facial responses to the emotion expressed by others. In this context, disturbed motor processing could lead to impairments in emotion recognition. Yet, one of the most distinctive clinical features in Parkinson’s disease is facial amimia, a reduction in facial expressiveness. Thus, we studied the ability to mimic facial expression in Parkinson’s disease, its effective influence on emotion recognition as well as the effect of dopamine replacement therapy both on emotion recognition and facial mimicry. For these purposes, we investigated electromyographic responses (corrugator supercilii, zygomaticus major and orbicularis oculi) to facial emotion among patients suffering from Parkinson’s disease and healthy participants in a facial emotion recognition paradigm (joy, anger, neutral). Our results showed that the facial emotion processing in Parkinson’s disease could be swung from a normal to a pathological, noisy, functioning because of a weaker signal-to-noise ratio. Besides, facial mimicry could have a beneficial effect on the recognition of emotion. Nevertheless, the negative impact of Parkinson’s disease on facial mimicry and its influence on emotion recognition would depend on the muscles involved in the production of the emotional expression to decode. Indeed, the corrugator relaxation would be a stronger predictor of the recognition of joy expressions than the zygomatic or orbicularis contractions. On the other hand, we cannot conclude here that the corrugator reactions foster the recognition of anger. Furthermore, we proposed this experiment to a group of patients under dopamine replacement therapy but also during a temporary withdrawal from treatment. The preliminary results are in favour of a beneficial effect of dopaminergic medication on both emotion recognition and facial mimicry. The potential positive “peripheral” impact of dopamine replacement therapy on emotion recognition through restoration of facial mimicry has still to be tested. We discussed these findings in the light of recent considerations about the role of basal ganglia-based circuits and embodied simulation theory ending with the results’ clinical significances.
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