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Aspectos clínicos e laboratoriais dos pacientes portadores de imunodeficiência comum variável atendidos em ambulatórios terciários de imunologia do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto - Universidade de São Paulo / Clinical and laboratory features of common variable immunodeficiency patients seen at immunology outpatient clinics of Ribeirão Preto Medical School Hospital - University of São PauloRodero, Maíra Ribeiro 19 May 2017 (has links)
Imunodeficiência Comum Variável (ICV) é uma imunodeficiência primária de igual distribuição entre os sexos e que afeta crianças e adultos, caracterizada por hipogamaglobulinemia com susceptibilidade aumentada a infecções e ampla variedade de complicações não infecciosas, como autoimunidade, malignidade, hiperplasia linfoide, doenças gastrointestinais, dentre outras. Os objetivos deste estudo foram: avaliar as manifestações clínicas, infecciosas e não infecciosas, mais frequentes em portadores de ICV (antes e após início da terapia com reposição de imunoglobulina humana) acompanhados em ambulatórios de imunologia do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP-USP), além dos níveis séricos de imunoglobulinas (IgG, IgA e IgM) ao diagnóstico, bem como as alterações quantitativas de células CD19+, CD3+CD4+, CD3+CD8+ e CD3-CD16+CD56+ desses pacientes. Neste estudo descritivo foram obtidas informações de pacientes com ICV acompanhados no HCFMRPUSP, através de registros de prontuários médicos. Foram avaliados 32 pacientes: 19 do sexo masculino e 13 do sexo feminino. A mediana da idade de início dos sintomas foi de 8,5 anos, com um pico de incidência precoce. O tempo médio de atraso para o diagnóstico foi de 7,7 anos. Todos os pacientes apresentaram infecções recorrentes, que levaram ao diagnóstico da ICV. As infecções mais frequentes foram as respiratórias, sendo que antes do diagnóstico as pneumonias foram as mais observadas (gerando, inclusive, grande número de internações) e durante o primeiro ano de uso regular da terapia de reposição com imunoglobulina humana as rinossinusites foram as que mais ocorreram. Houve redução na incidência de infecções após início do tratamento. Todos os pacientes apresentaram níveis séricos de IgG, IgA e IgM reduzidos ao diagnóstico, sendo que as medianas dos níveis séricos foram de 158 mg/dL, 10,15 mg/dL e 17 mg/dL, respectivamente. De 30 pacientes que haviam realizado imunofenotipagem, cerca de 73% apresentaram número absoluto reduzido de células CD19+ e 40% apresentaram número absoluto reduzido de linfócitos T CD4+. A relação CD4/CD8 foi invertida em aproximadamente 53% dos pacientes. Em 18 pacientes as células natural killer foram quantificadas e cerca de 56% deles apresentaram número absoluto reduzido. A maioria (97%) dos pacientes manifestou, no mínimo, uma comorbidade não infecciosa no tempo médio de seguimento de 8,2 anos, sendo que hiperplasia linfoide e doença pulmonar crônica foram as mais frequentes, cada uma ocorrendo em cerca de metade dos pacientes. O atraso para o diagnóstico da ICV foi importante, sugerindo que a presença de infecções recorrentes, especialmente do trato respiratório, deveria levar à investigação de deficiências de anticorpos, com dosagem de imunoglobulinas. Complicações não infecciosas foram extremamente comuns nesta casuística, ressaltando o amplo espectro clínico da doença. / Common variable immunodeficiency (CVID) is a primary immunodeficiency that is equally distributed between men and women and affects children and adults, characterized by hypogammaglobulinemia with increased susceptibility to infections and a wide variety of noninfectious complications such as autoimmunity, malignancy, lymphoid hyperplasia, gastrointestinal diseases, among others. The purposes of this study were to evaluate infectious and non-infectious clinical manifestations (before and after immunoglobulin replacement therapy) of CVID patients attended at immunology outpatient clinics of the Clinical Hospital of Ribeirão Preto Medical School - University of São Paulo (HCFMRP-USP), in addition to immunoglobulins (IgG, IgA and IgM) serum levels at diagnosis, as well as quantitative differences in CD19+, CD3+CD4+, CD3+CD8+ and CD3-CD16+CD56+ cells. In this descriptive study, data of CVID patients followed up at HCFMRP-USP were collected through medical records. Thirty-two patients were found: 19 males and 13 females. The median age of onset of symptoms was 8.5 years, with an early peak of incidence. The mean delay for diagnosis was 7.7 years. All patients had recurrent infections, which led to the diagnosis of CVID. The most frequent infections were respiratory tract infections. Pneumonias were more observed before the diagnosis (generating a large number of hospitalizations) and rhinosinusitis were more frequent during the first year under regular use of immunoglobulin replacement therapy. There was a reduction in the incidence of infections after initiation of treatment. All patients had low IgG, IgA and IgM serum levels (lower than the 3th percentile for age) at diagnosis and the median of serum levels were 158 mg/dL, 10.15 mg/dL and 17 mg/dL, respectively. Among 30 patients that had been immunophenotyped, approximately 73% had a reduced absolute number of CD19+ cells and 40% had a reduced absolute number of T CD4+ lymphocytes. The CD4/CD8 ratio was inverted in approximately 53% of the patients. Natural killer cells were quantified in 18 patients and about 56% of them had reduced absolute number. The majority (97%) of patients manifested at least one noninfectious comorbidity at a mean follow-up time of 8.2 years, with lymphoid hyperplasia and chronic lung disease being the most common, each occurring in about half of the patients. The delay for the diagnosis of CVID was important, suggesting that the presence of recurrent infections, especially of the respiratory tract, should lead to the investigation of antibody deficiencies with dosage of immunoglobulins. Noninfectious complications were extremely common in this series, highlighting the broad clinical spectrum of the disease.
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Aspectos clínicos e laboratoriais dos pacientes portadores de imunodeficiência comum variável atendidos em ambulatórios terciários de imunologia do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto - Universidade de São Paulo / Clinical and laboratory features of common variable immunodeficiency patients seen at immunology outpatient clinics of Ribeirão Preto Medical School Hospital - University of São PauloMaíra Ribeiro Rodero 19 May 2017 (has links)
Imunodeficiência Comum Variável (ICV) é uma imunodeficiência primária de igual distribuição entre os sexos e que afeta crianças e adultos, caracterizada por hipogamaglobulinemia com susceptibilidade aumentada a infecções e ampla variedade de complicações não infecciosas, como autoimunidade, malignidade, hiperplasia linfoide, doenças gastrointestinais, dentre outras. Os objetivos deste estudo foram: avaliar as manifestações clínicas, infecciosas e não infecciosas, mais frequentes em portadores de ICV (antes e após início da terapia com reposição de imunoglobulina humana) acompanhados em ambulatórios de imunologia do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP-USP), além dos níveis séricos de imunoglobulinas (IgG, IgA e IgM) ao diagnóstico, bem como as alterações quantitativas de células CD19+, CD3+CD4+, CD3+CD8+ e CD3-CD16+CD56+ desses pacientes. Neste estudo descritivo foram obtidas informações de pacientes com ICV acompanhados no HCFMRPUSP, através de registros de prontuários médicos. Foram avaliados 32 pacientes: 19 do sexo masculino e 13 do sexo feminino. A mediana da idade de início dos sintomas foi de 8,5 anos, com um pico de incidência precoce. O tempo médio de atraso para o diagnóstico foi de 7,7 anos. Todos os pacientes apresentaram infecções recorrentes, que levaram ao diagnóstico da ICV. As infecções mais frequentes foram as respiratórias, sendo que antes do diagnóstico as pneumonias foram as mais observadas (gerando, inclusive, grande número de internações) e durante o primeiro ano de uso regular da terapia de reposição com imunoglobulina humana as rinossinusites foram as que mais ocorreram. Houve redução na incidência de infecções após início do tratamento. Todos os pacientes apresentaram níveis séricos de IgG, IgA e IgM reduzidos ao diagnóstico, sendo que as medianas dos níveis séricos foram de 158 mg/dL, 10,15 mg/dL e 17 mg/dL, respectivamente. De 30 pacientes que haviam realizado imunofenotipagem, cerca de 73% apresentaram número absoluto reduzido de células CD19+ e 40% apresentaram número absoluto reduzido de linfócitos T CD4+. A relação CD4/CD8 foi invertida em aproximadamente 53% dos pacientes. Em 18 pacientes as células natural killer foram quantificadas e cerca de 56% deles apresentaram número absoluto reduzido. A maioria (97%) dos pacientes manifestou, no mínimo, uma comorbidade não infecciosa no tempo médio de seguimento de 8,2 anos, sendo que hiperplasia linfoide e doença pulmonar crônica foram as mais frequentes, cada uma ocorrendo em cerca de metade dos pacientes. O atraso para o diagnóstico da ICV foi importante, sugerindo que a presença de infecções recorrentes, especialmente do trato respiratório, deveria levar à investigação de deficiências de anticorpos, com dosagem de imunoglobulinas. Complicações não infecciosas foram extremamente comuns nesta casuística, ressaltando o amplo espectro clínico da doença. / Common variable immunodeficiency (CVID) is a primary immunodeficiency that is equally distributed between men and women and affects children and adults, characterized by hypogammaglobulinemia with increased susceptibility to infections and a wide variety of noninfectious complications such as autoimmunity, malignancy, lymphoid hyperplasia, gastrointestinal diseases, among others. The purposes of this study were to evaluate infectious and non-infectious clinical manifestations (before and after immunoglobulin replacement therapy) of CVID patients attended at immunology outpatient clinics of the Clinical Hospital of Ribeirão Preto Medical School - University of São Paulo (HCFMRP-USP), in addition to immunoglobulins (IgG, IgA and IgM) serum levels at diagnosis, as well as quantitative differences in CD19+, CD3+CD4+, CD3+CD8+ and CD3-CD16+CD56+ cells. In this descriptive study, data of CVID patients followed up at HCFMRP-USP were collected through medical records. Thirty-two patients were found: 19 males and 13 females. The median age of onset of symptoms was 8.5 years, with an early peak of incidence. The mean delay for diagnosis was 7.7 years. All patients had recurrent infections, which led to the diagnosis of CVID. The most frequent infections were respiratory tract infections. Pneumonias were more observed before the diagnosis (generating a large number of hospitalizations) and rhinosinusitis were more frequent during the first year under regular use of immunoglobulin replacement therapy. There was a reduction in the incidence of infections after initiation of treatment. All patients had low IgG, IgA and IgM serum levels (lower than the 3th percentile for age) at diagnosis and the median of serum levels were 158 mg/dL, 10.15 mg/dL and 17 mg/dL, respectively. Among 30 patients that had been immunophenotyped, approximately 73% had a reduced absolute number of CD19+ cells and 40% had a reduced absolute number of T CD4+ lymphocytes. The CD4/CD8 ratio was inverted in approximately 53% of the patients. Natural killer cells were quantified in 18 patients and about 56% of them had reduced absolute number. The majority (97%) of patients manifested at least one noninfectious comorbidity at a mean follow-up time of 8.2 years, with lymphoid hyperplasia and chronic lung disease being the most common, each occurring in about half of the patients. The delay for the diagnosis of CVID was important, suggesting that the presence of recurrent infections, especially of the respiratory tract, should lead to the investigation of antibody deficiencies with dosage of immunoglobulins. Noninfectious complications were extremely common in this series, highlighting the broad clinical spectrum of the disease.
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AnÃlise investigativa de polimorfismos genÃticos associados à suscetibilidade da infecÃÃo da dengue em pacientes do Brasil / Investigative analysis of genetic polymorphisms associated with susceptibility of dengue infection in patients BrazilIsaac Farias CansanÃÃo 31 August 2015 (has links)
FundaÃÃo de Amparo a Pesquisa do Estado do Piauà / Dengue is an infectious disease that is associated with high morbidity and mortality rates in tropical and subtropical countries. Infection can be asymptomatic or have warning signs leading to severity. The diversity of these episodes can be affected mainly by the ratio of serotypes/genotypes of the virus. Different interleukins are directly associated with dengue infection, and they are closely related to the immunopathogenesis of the disease. Genetic polymorphisms of these cytokines may be responsible for the imbalance of the inflammatory process and markers for dengue susceptibility and may be related to dengue symptoms. In this study, single nucleotide polymorphisms (SNPs) of the interleukins (IL) IL1β -511C>T, IL1RN bp VNTR 86, IL6 -174G>C and IL10 -819C>T and TNFα -308G>A were analyzed in a group of 198 individuals with suspected dengue infection, during August 2011 to August 2013. Dengue was confirmed in 118 patients, and the control group consisted of another 80 individuals without dengue. Clinical and epidemiological data were collected from medical records or personal interviews. The genotype frequencies of all SNPs analyzed were found to be in Hardy-Weinberg equilibrium (HWE), except for the TNFα gene. The major finding was the association of the IL1β (-511C>T) T allele with dengue susceptibility (p <0.05). Analysis of association showed that the presence of the IL6 (-174G>C) polymorphic allele showed an increase in dengue susceptibility combined with at least a polymorphic allele of TNFα and with IL1β (-511C>T) polymorphic allele. Also, the heterozygous genotype of IL10 (-819 C>T) was significantly associated with TNFα (-308G>A) and IL1β (-511C>T) with IL1RN homozygous polymorphic genotypes for both, respectively. Considering the clinical symptoms, only dizziness was found to be associated with the T allele IL1β (-511C>T) (P = 0.01). Our data showed the importance of IL1β (-511C>T) polymorphism for dengue susceptibility and highlighted the additive effect of some interleukins. Also shown was that this polymorphism can be a marker for dengue symptoms, which may be relevant for therapeutic approaches. / A dengue à uma doenÃa infecciosa que detÃm altas taxas de morbidade e mortalidade em paÃses tropicais e subtropicais do mundo. A infecÃÃo pode ser assintomÃtica, possuir sinais de alerta ou levar à gravidade. A diversidade destas manifestaÃÃes pode ser afetada, principalmente, pela relaÃÃo sorotipo/genÃtipo do vÃrus. Diferentes interleucinas estÃo diretamente associadas com a infecÃÃo de dengue, e estas estÃo estreitamente relacionadas com a imunopatogÃnese da doenÃa. Polimorfismos genÃticos de citocinas podem ser responsÃveis pelo desequilÃbrio do processo inflamatÃrio, sendo potenciais marcadores da susceptibilidade à dengue bem como responsÃveis pelos sintomas a ela associados. Neste estudo, polimorfismos de nucleotÃdeo Ãnico (SNP) das interleucinas (IL) 1β -511C>T, IL1RN VNTR 86 bp, IL6 -174G>C, IL10 -819C>T e TNFα -308G>A foram analisados em um grupo de 198 indivÃduos com suspeita de infecÃÃo por dengue, durante agosto de 2011 a agosto de 2013. A dengue foi confirmada em 118 pacientes e o grupo controle consistiu em 80 indivÃduos sem dengue. Os dados clÃnicos e epidemiolÃgicos foram coletados de prontuÃrio ou entrevista pessoal. As frequÃncias genotÃpicas de todos os SNPs analisados estavam em equilÃbrio de Hardy-Weinberg (HWE), exceto o gene TNFα. A principal associaÃÃo encontrada foi o alelo T do IL1β (-511C>T) para susceptibilidade a dengue (P<0,05). AnÃlises de associaÃÃo mostraram que a presenÃa do alelo polimÃrfico de IL6 (-174G>C) mostrou um aumento da susceptibilidade para dengue quando combinado com pelo menos um alelo polimÃrfico de TNFα e com o alelo polimÃrfico do IL1β (-511C>T). AlÃm disso, o genÃtipo heterozigoto de IL10 (-819 C>T) e IL1β (-511C>T) foram significativamente associados com TNFα (-308G>A) e com IL1RN com genÃtipos homozigotos polimÃrficos para ambos, respectivamente. Considerando os sintomas clÃnicos, apenas tontura foi encontrado associado com o alelo T do IL1β -511C>T (P = 0,01). Nossos dados mostraram a importÃncia do polimorfismo do IL1β (-511C>T) para a susceptibilidade de dengue e ressalta o efeito aditivo de algumas interleucinas. TambÃm demonstrou que este polimorfismo pode ser um marcador para sintomas de dengue, o que pode ser relevante para abordagens terapÃuticas.
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Aspects épidémiologiques et cliniques d'une infection par le virus du Chikungunya chez les sujets âgés de 65 ans et plus. : Etude sur les spécificités d'une atteinte par arbovirose dans une population âgée. / Chikungunya virus infection in ederly : Epidemiological and clinical featuresGodaert-Simon, Lidvine 16 November 2017 (has links)
L’infection par le virus du Chikungunya est devenu en quelques années un problème de santé publique. D’abord limitée dans les régions tropicales et subtropicales, la diffusion mondiale du vecteur de l’infection couplée à la migration humaine et aux adaptations du virus contribue à la survenue de phénomènes épidémiques fréquents et touchant de nombreux territoires jusqu’aux pays tempérés. Dans les prochaines décades, la population des 65 ans ou plus sera probablement largement impactée lors des épidémies. Les conséquences de la maladie dans cette population est méconnu du fait de l’absence de données d’observation disponibles. Or, les spécificités de cette population sont connues (risque de comorbidité associée, immunosenescence, modifications physiologiques affectant le système rénal, cardiaque, pulmonaire…) et influencent fortement son mode de réponse et sa capacité à supporter un épisode infectieux. A travers l’observation et le suivi de la cohorte ChikOld constituée de 687 sujets âgés de 65 ans ou plus ayant contracté ou non la maladie en 2014, nous avons mis en évidence que les outils d’aide au diagnostic élaborés dans une population d’adultes jeunes avaient des performances médiocres dans la population âgée. Nous avons également pu mettre en évidence que les tableaux cliniques habituellement décrits de la maladie ne sont pas ceux observés le plus fréquemment dans une population de sujets de 65 ans ou plus. Ces observations ont abouti à l’élaboration un outil d’aide au diagnostic (score) spécifique à cette population. De nombreuses questions subsistent concernant cette infection, notamment sur les conséquences à moyen et long terme, sachant les conséquences en phase aiguë et l’existence de formes chroniques. Une étude préliminaire que nous avons conduit suggère l’absence de surmortalité à moyen terme (un an) et la majoration de la dépendance dans les suites d’une infection par le virus du Chikungunya. D’autres travaux seront nécessaires pour caractériser la forme habituelle de la maladie chez les sujets âgés ainsi que pour mieux appréhender les conséquences à moyen et long terme concernant la mortalité et la dépendance. / Chikungunya virus infection is an emergent arthropod-borne alpha-virus transmitted by mosquito bites, and causes fever with debilitating arthritic illness. Chikungunya virus infection is still considered as an emerging public health problem in both tropical and temperate regions. The presence of favourable conditions in temperate regions has enabled propagation of the vector, leading to the emergence of the first autochthonous cases of CHIKV in Europe and the USA. Older people may be particularly concerned about infection during an outbreak. CVhikungunya virus infection prevalence rates are not fully known, and vary from 18% to 48% The use of predictive scores would thus be very helpful in this situation. We have showed that predictive scores developed in young population have poor diagnostic performances in elderly population. In fact, the populations described in observational studies of chikungunya virus infection were predominantly young subjects. Clinical and epidemiological data in older subjects (aged 65 and over) are sparse. The mortality and morbidity related to infection in elderly people is poorly documented. We showed that the usual clinical expression of CHIKV infection is different in elderly subjects (absence of fever, arthralgia or both). We have developed and validated a new Chikungunya virus infection screening score specifically for use in the aged population.Some questions remain, in particular concerning mid- or long-term consequences of infection in elderly people. In a preliminary study, we have showed that the mid-term mortality rate of aged people infected by Chikungunya was lower than that of uninfected aged people.We need to continue our work on this thematic to explore more precisely the consequences of chikungunya virus infection in elderly people (mid- and long-term mortality, loss of autonomy, chronic form…).
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Aspectos epidemiológicos e clínicos da paracoccidioidomicose no estado do Espírito Santo / Epidemiological and clinical aspects of paracoccidioidomycosis in Espírito Santo state, BrazilPeçanha, Paulo Mendes 31 August 2012 (has links)
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Previous issue date: 2012-08-31 / In a serie of cases of paracoccidioidomycosis we retrospectively reviewed the records of 546 patients treated at the Hospital Universitario Cassiano Antonio Moraes (HUCAM), Federal University of Espírito Santo - UFES, from 1978 to 2012. The patients ages ranged from 7 to 83 years, with 512 males and 34 females in a ratio of 15:1. Most of the patients( 81,34%) were from the state of Espírito Santo (ES), 18,66% came from other states, mainly from rural areas and 77,6% of them were farmers. The map of geographical distribution in ES showed higher concentration of cases in counties in the western border, along Minas Gerais state.Looking at the clinical features 60 (10.99%) patients presented the acute / subacute form of the disease, 485 (88.83%) the chronic form and one patient the subclinical form. The organs most often affected were the lungs, oropharyngeal mucosa, lymph nodes, skin and larynx. Several other organs were also affected less frequently. The diagnosis was established by histopathology in 252 (46.15%), direct examination in 168 (30.77%), direct examination and histopathology in 111 (20.33%) and serology in 15 (2.75%) patients. The infectious diseases more frequently associated were tuberculosis, AIDS, leishmaniasis and intestinal parasites. Patients were treated with sulfonamides, or azole in mild to moderate forms and amphotericin B in severe forms. The length of the treatment was analysed in 366 patients. Only 146 (40%) completed the minimum of 18 months needed when taking sulphonamides. The most common sequelae were residual pulmonary lesions and scars on skin and mucous membranes. The number of cases in this serie highlights the state of Espírito Santo as important endemic area of paracoccidioidomycosis in Brazil and the results follow the clinical and epidemiological patterns demonstrated in other series / Em série histórica de casos de Paracoccidioidomicose, foram analisados retrospectivamente os prontuários de 546 pacientes atendidos no Hospital Universitário Cassiano Antonio Moraes (HUCAM) da Universidade Federal do Espírito Santo - UFES, no período de 1978 a 2012. A idade dos pacientes variou de 7 a 83 anos, sendo 512 do gênero masculino e 34 do feminino, com proporção 15:1. Em relação à procedência, 81,34% eram do Espírito Santo (ES) e 18,66% procediam de outros estados, predominantemente de área rural, sendo 77,6% dos pacientes lavradores. O mapeamento da distribuição geográfica no ES revelou maior concentração de casos em municípios situados na faixa oeste, junto à divisa de Minas Gerais. Quanto à apresentação clínica, 60 (10,99%) pacientes eram da forma aguda/subaguda da doença, 485 (88,83%) da forma crônica e um paciente apresentou a forma subclínica. Os órgãos mais frequentemente acometidos foram os pulmões, mucosa de orofaringe, linfonodos, pele e laringe. Vários outros órgãos se mostraram comprometidos, com menor frequência. O diagnóstico foi firmado através de exame histopatológico em 252 (46,15%), exame direto em 168 (30,77%), exame direto e histopatológico em 111 (20,33%) e sorologia em 15 (2,75%) pacientes. As doenças infecciosas mais frequentemente associadas foram: Tuberculose, AIDS, Leishmaniose e as parasitoses intestinais. Os pacientes foram tratados com sulfonamidas ou azólicos nas formas leves e moderadas e anfotericina B nas formas graves. A duração do tratamento foi analisada em 366 pacientes, sendo que, somente 146 (40%) completaram o tempo mínimo previsto de 18 meses de medicação com sulfonamidas. As sequelas mais comuns foram lesões residuais pulmonares e cicatrizes em pele e mucosas. O número de casos desta série destaca o ES como importante área endêmica de Paracoccidioidomicose no Brasil e os resultados seguem os padrões clínicos e epidemiológicos demonstrados em outras séries
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Epidemiological and clinical variability of amyotrophic lateral sclerosis between geographic areas and populations : focus on Africa and Latin America / Variabilité épidémiologique et clinique de la sclérose latérale amyotrophique entre les zones géographiques et les populations : focus sur l'Afrique et l'Amérique latineLuna-Mendez, Jaime-Andres 25 October 2019 (has links)
La sclérose latérale amyotrophique (SLA) est une maladie neurodégénérative fatale. De récents travaux suggèrent une variabilité en termes d'incidence, de mortalité et de caractéristiques cliniques selon les régions géographiques et les populations. Cette thèse offre une mise à jour sur l'hétérogénéité de la SLA, accompagnée de deux études épidémiologiques et cliniques originales en Afrique et en Amérique latine. La première est une étude hospitalière multicentrique dans huit pays africains qui décrit et compare les caractéristiques sociodémographiques et cliniques, les traitements, les facteurs pronostics et la durée de survie chez les patients atteints de la SLA. Certaines caractéristiques sont plus spécifiques aux cas africains par rapport aux occidentaux, telles qu’une proportion plus élevée de patients masculins, un âge de début plus jeune, une proportion plus faible de début bulbaire et une survie plus courte que prévue. Le sous-continent et le traitement par riluzole sont des facteurs indépendamment liés à la survie du patient. La seconde étude en population générale a estimé les taux de mortalité en Équateur, pays composé d’une population majoritairement métisse. Ces résultats soutiennent l’hypothèse d’une survenue plus faible de cas SLA dans les populations métisses d’Amérique latine comparée aux populations caucasiennes d'Europe et d'Amérique du Nord. Les taux de mortalité standardisés ont été comparés entre les groupes ethniques, montrant des différences significatives entre le groupe métisse et le groupe comprenant les autres ethnies (indigènes, asiatiques et arabes). Ce travail fournit des données originales et fiables pour améliorer nos connaissances sur la SLA en Afrique et en Amérique latine. Une collaboration internationale et multidisciplinaire est cruciale pour comprendre la variabilité de la SLA dans différentes populations. / Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder with an invariable fatal outcome. Current evidence supports ALS variability in terms of incidence, mortality and clinical features between geographic areas and populations. This dissertation offers an updated review of ALS heterogeneity along with two original epidemiological and clinical studies in Africa and Latin America. First, a multicenter hospital-based study in eight African countries that described and compared the sociodemographic characteristics, clinical features, treatments, prognoses and survival times of patients with ALS. Certain specific characteristics were different in African cases compared to Western cases like higher proportion of male patients, younger age at onset, lower proportion of bulbar onset and shorter survival than expected. Subcontinental location and riluzole treatment are independently associated with survival. Second, a population-based study estimated ALS mortality rates in Ecuador, a predominant admixed population. The findings support a lower ALS occurrence in admixed populations from Latin America compared to European and Northern American populations. Standardized mortality rates were compared among ethnic groups with significant differences between admixed and other ethnic groups (Indigenous, Asians and Arabs). This work provides original and reliable data to improve our knowledge of ALS in Africa and Latin America. An international and multidisciplinary collaboration is crucial to understand ALS variability in different populations.
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