Síndrome de Cogan: achados oculares em um caso da forma atípica

A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

Transplantes de córneas no estado do Rio Grande do Norte: aspectos epidemiológicos e clínicos

This study aimed to characterize in a clinical and epidemiological way the patients who are on a waiting list for transplantation and the patients transplanted with corneal tissue in a corneal transplants reference service in the state of Rio Grande do Norte. It is an epidemiological study of a quantitative approach, with cross-sectional, descriptive and analytical cut including all patients on the waiting list for transplantation (population A) and the patients already transplanted with a corneal tissue (population B) in a reference service. In population A, there was a census conducted of patients on the waiting list for corneal transplantation (n=62 patients). In population B, the sample was non-probabilistic and corresponded to all corneal transplants performed in the service in the period from 2010 to 2014 (n=258). This study is approved by the Research Ethics Committee of the Federal University of Rio Grande do Norte, in Opinion 876 177 and CAAE 37533014.8.0000.5537. Data were collected in full in the period from January to April 2015, by two instruments built to systematize the necessary data collection. After being coded and tabulated, data were analyzed using the Statistical Package for Social Sciences software, version 20.0. The definition of variables and their distribution patterns were presented as frequencies and measures of central tendency while, for multivariate analysis, the effect of magnitude measures were applied (prevalence ratio) and measures of association (chi-square test or Fisher's exact test) for a 0.05 significance level. The results are shown in two scientific articles coming from the field survey data. It was found that the epidemiological profile of patients on the waiting list (n=62) showed a prevalence of individuals aged over 50 years old, female (54.84%) and residents of the middle region of East Rio Grande do Norte (66.13%). The clinical profile of patients with corneal transplantation (n=258) was characterized by being male (51.16%) with an average age of 49.33 years old and 57.75% were coming from East Rio Grande do Norte. The average time on the waiting list was 172.63 days in elective transplants and 9.03 days in urgent transplants. Keratoconus was the main indicator condition to perform the transplant. For patients on the waiting list, the variable “type of disorder of the cornea” showed statistically significant association with gender and age. For patients with corneal transplants, the variable "type of disorder of the cornea" was associated with the variables gender, age, previous surgery, failure of previous graft, classification of the eye and glaucoma. By characterizing the clinical and epidemiological profile of corneal transplants, it is possible to question the reality, pointing about the care that should be offered and develop targeted interventions to collective and individual needs intrinsic to patients who need this surgery as a treatment option.

Síndrome de Cogan: achados oculares em um caso da forma atípica

A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

Análise do estado da arte dos aspectos diagnóticos, periciais e jurisprudenciais das LER/DORT no contexto previdenciário das doenças do trabalho no Brasil

Objetivo: analisar o estado da arte dos aspectos diagnósticos, periciais e jurisprudenciais das LER/DORT (Lesões por Esforços Repetitivos / Distúrbios Osteomusculares Relacionados ao Trabalho) no Brasil. Materiais e Método: trata-se de pesquisa descritiva, de natureza qualitativa, com formato documental, utilizando-se a técnica de análise de conteúdo. A avaliação evolutiva da legislação previdenciária relacionada as LER/DORT foi realizada através da pesquisa no banco de dados disponibilizado pelo Governo Federal e mediante a consulta ao DATAPREV/Sislex. A avaliação dos aspectos diagnósticos foi instrumentalizada através, principalmente, de artigos científicos publicados entre 2003 e 2008, nas línguas portuguesa, inglesa, espanhola e francesa, relacionados com os métodos de diagnósticos complementares das LER-DORT (ressonância magnética, tomografia computadorizada, ultrassonografia e eletroneuromiografia). As jurisprudências foram obtidas através da busca dos julgados sobre o tema, entre 2003 e 2008, pertencentes ao Supremo Tribunal Federal, Superior Tribunal de Justiça, Tribunais Regionais Federais, Tribunal Superior do Trabalho e Tribunais Regionais do Trabalho. Resultados: foram identificados 48 artigos abordando os aspectos diagnósticos das LER-DORT, observando-se que os exames por ressonância magnética, ultrassonografia e eletromiografia demonstraram ser mais efetivos, dentro das suas especificidades, para a complementação do exame clínico de patologias relacionadas às LER-DORT. A análise das 123 jurisprudências selecionadas demonstrou, de forma geral, que as LER-DORT equiparam-se ao acidente de trabalho, devendo apresentar nexo de causalidade (atestado através de laudo médico-pericial) e, ainda, ensejam a ação por danos morais, a qual, devido à EC nº 45 passou a ser competência da Justiça do Trabalho. O Estado da arte dos aspectos periciais encontra-se representado pela vigência da Instrução Normativa n. 98/2003, a qual traz como aspecto fundamental a determinação de novos parâmetros a serem considerados na definição de um quadro de LER-DORT, dispondo, ainda, sobre a conduta ética que deve ser adotada pelo médico perito, bem como chama a atenção para a necessidade dessas doenças do trabalho serem comunicadas às autoridadades competentes, através da emissão da Comunicação de Acidente de Trabalho (CAT). Conclusão: as LER-DORT representam, hoje, um problema de importante impacto, não apenas previdenciário, mas também econômico em diversos países, nos quais o Brasil encontra-se inserido. Estudos sobre o estado da arte relacionados às LER-DORT são fundamentais para auxiliar na construção de um modelo crítico e consciente que colabore com a garantia de sustentabilidade do sistema previdenciário no Brasil

Sistemas de informação geográfica e análise espacial de dados como ferramentas para determinação de agregação espacial de doenças: a hanseníase como modelo

This work demonstrates the importance of using tools used in geographic information systems (GIS) and spatial data analysis (SDA) for the study of infectious diseases. Analysis methods were used to describe more fully the spatial distribution of a particular disease by incorporating the geographical element in the analysis. In Chapter 1, we report the historical evolution of these techniques in the field of human health and use Hansen s disease (leprosy) in Rio Grande do Norte as an example. In Chapter 2, we introduced a few basic theoretical concepts on the methodology and classified the types of spatial data commonly treated. Chapters 3 and 4 defined and demonstrated the use of the two most important techniques for analysis of health data, which are data point processes and data area. We modelled the case distribution of Hansen s disease in the city of Mossoró - RN. In the analysis, we used R scripts and made available routines and analitical procedures developed by the author. This approach can be easily used by researchers in several areas. As practical results, major risk areas in Mossoró leprosy were detected, and its association with the socioeconomic profile of the population at risk was found. Moreover, it is clearly shown that his approach could be of great help to be used continuously in data analysis and processing, allowing the development of new strategies to work might increase the use of such techniques in data analysis in health care

Avaliação dos parâmetros hematológicos e imunofenotípicos de pacientes com doenças linfoproliferativas crônicas no Rio Grande do Norte

Chronic lymphoproliferative disorders (DLPC) are lymphoid system diseases characterized by the abnormal proliferation of mature lymphocytes that affect B cells, T lymphocytes and NK cells. The aim of the study was to demonstrate the relevance of immunophenotyping by flow cytometry in patients with prolonged lymphocytosis and / or cytomorphological changes compatible with lymphoproliferative diseases. In this study 460 patients (244 men and 216 women) with DLPC were evaluated. Were analyzed by flow cytometry with a panel of monoclonal antibodies consisting of CD3, CD4, CD5, CD8, CD10, CD19, CD22, CD23, CD25, CD38, CD45, CD16/CD56, and HLADR heavy and light chains of immunoglobulins. It also examines information regarding age, gender of patients and laboratory data as leucocytes, cytomorphological analysis, platelet count and hemoglobin determination. The results showed 398 cases of chronic lymphoproliferative disorders and 62 of DLPC B cell lymphoproliferative diseases T. B showed the following distribution : 253 cases of chronic lymphocytic leukemia (CLL), 42 cases of multiple myeloma ( MM ), 37 cases of lymphoma non - Hodgkin lymphoma in leukemic phase (NHL) , 17 cases of pro- B lymphocytic leukemia ( B -PLL), 15 cases of mantle cell lymphoma (MCL ), 12 cases of plasma cell leukemia ( PCL), 9 cases of lymphoma Burkitt (Linf B), 8 cases of leukemia villous cells ( LCV), 3 cases of splenic lymphoma with villous cells (LECV), a case of follicular lymphoma (LF) and a Waldenströn macroglobulinemia ( MW). The diseases source NK / T were 23 cases of peripheral T cell lymphoma (LCTP), 14 cases of T prolymphocytic leukemia (T -PLL), 10 cases of leukemia T of large granular lymphocytes (LGL -T) 9 cases of leukemia cells of adult T (LCTA), 5 cases of Sezary syndrome (SS) and a case of large granular NK leukemia (LGL -NK) lymphocytes. In conclusion, the combined use of the monoclonal antibody panel careful cytomorphological analysis was shown to be essential in immune diagnosis and classification of chronic lymphoproliferative disorders. This study was approved by the IRB - HUOL under number 356 / 09

Atuação do enfermeiro na estratégia de atenção integrada às doenças prevalentes na infância

This study aimed to describe nurses' actions in the strategy of Integrated Management of Childhood Illness in the city of Natal, Rio Grande do Norte. This is a qualitative study with descriptive approach. The universe consisted of nurses from the Family Health Strategy, totaling 16 participants. For the research project was submitted for approval by the Ethics Committee of the Universidade Federal do Rio Grande do Norte, obtaining Opinion No. 187/2012. Data were obtained in two ways: a questionnaire survey to profile the training of nurses and an interview guided by a structured interview. Interviews were treated in the light of analysis of thematic category Bardin. The results showed the central thematic study "Integrated Management of Childhood Illness in the context of nursing activities" category and three analyzes: "Understanding the Integrated Management of Childhood Illness", "Difficulties invibializam use IMCI "and" Working conditions for nurses in the Integrated Management of Childhood Illness. " It is observed that nurses consider the Integrated Management of Childhood Illness useful, effective and important to keep sick children within the logic curative. However disregard the character of health promotion and disease prevention thereof. It was found that the participants still hold the attendance of crinaças within the biomedical model and that these same professionals are subjected to increasingly precarious working conditions and unhealthy due to lack of human and material resources. It was found that the interviewees do not follow the protocols of strategy because of barriers related to prescription medications by nurses, the medical, the lack of incentives, training and supervision by the municipal health and the Regional Nursing Council

Trajetos no labirinto: história de vida dos portadores de doenças oncológicas em uso de transfusões sanguíneas na cidade de Natal/RN

The studies paths in the maze: life story of individuals with oncological diseases into use of blood transfusion in Natal has the hemotherapy as a primordial procedure to review the relationship between users of oncological health and the due ramifications. The hemotherapy looks for supply the organic needs through blood transfusion, which acquires vital function to the ones that have cancer, because it might reestablish the functionality of the organism throughout the raising of blood components. The impact over the transfusion affects emotionally and physically the users life. Aiming to reflect on these impacts, this study tried, through narratives of lives, rescue their experience since their knowledge of the disease until the time of blood transfusion using. It s about an exploratory-descriptive study, where the qualitative approach uses the theoretical-methodological reference of the oral life history to analyze a colony consisting of five users of health diagnosed with cancer, with achievement of at least three blood transfusions, the clinic Núcleo de Hematologia e Hemoterapia - UFRN, in Natal-RN. The network, in turn, was composed by employees of both sexes, regardless of age, who voluntarily agreed to participate in the study. The data collection, with approval of the Ethics Committee in Research, Liga Norte Riograndense Contra o Cancer, on the number 001/001/2012, occurred through semi-structured interviews, recorded individually in the home context that was previously chosen by employees. The methodological procedure occurred with the transcription of the interviews and their transcreations, and analysis of reports by thematic content analysis. At the reading orientation and interpretation of the employees stories, were discussed three categories of analysis: the impact on psychological REVIEW; impact on socialization and group membership, the environment and the impact of blood transfusion on treatment. Based on the narrative of the life histories of employees, we conclude that the experiences and feelings, hope and sorrow, pain and faith, even when facing a disease like cancer, bring lots of teaching and learning to health professional that deposits humanization health and reinstate hemotherapy forms of clinical critical

Doenças sem doentes: Ocorrência de Distúrbios Osteomusculares Relacionados ao Trabalho DORT nos operadores de caixa de um banco

The changes incurred in the financial system with the introduction of new technologies and new forms of administration of banks has caused impact on the health of workers. These changes, which passed in the process of work, generate a combined share of the risk factors that result in numerous injuries and illnesses among banks, notably between the operators of banks tellers. The Work-Related Musculoskeletal Disordes - WRMD represent a group of occupational diseases always present among these workers. Because of its high incidence and the amount of financial resour envolved to manage the problem has been the object of constant study. This paper aims to analyze the bank teller activity; search the occurrence of WRMD in the activity, identifying the factors determining the occurrence of WRMD in the activity and determine the real number of touchs on a keyboard made by the operator and propose solutions that influence the reduction of illness in the workplace of the bank teller. Methodological tools of ergonomics are used to provide a broad knowledge of aspects of work that have been studied and influential in the generation of occupational diseases studied. It was found that activity put workers to serious risk of occupational diseases. As the main contributory factors and determinants for this illness: the requirements and control the numbers daily endorsements; evaluation system based on performance targets for productivity; management system at time of service to customers; work with stressful factors (broken box); excess of time worked; furniture of workstations with ergonomic inadequacies and policy for the prevention of occupational diseases inefficient. They have also noted cases of illness for DORT workers without fulfilling the legal requirement of the issuance of the communication of labour accident and without the removal of the employee of the workplace

Condição peri-implantar e fatores associados às doenças peri-implantares em pacientes reabilitados no serviço odontológico da faculdade de odontologia da UFRN

A introdução dos implantes dentários osseointegrados como uma ferramenta na reabilitação oral de pacientes edêntulos e parcialmente edêntulos é uma realidade no cotidiano do cirurgião-dentista. Estudos reportam uma alta taxa de sucesso da utilização de implantes no tratamento reabilitador. Entretanto, outras investigações têm mostrado a perda desses implantes devido a infecções peri-implantares, como a mucosite e a peri-implantite. O objetivo deste trabalho foi avaliar a frequência das doenças peri-implantares e seus fatores associados em pacientes com implantes dentais em função reabilitados no serviço odontológico da Faculdade de Odontologia da UFRN. Foram examinados 155 indivíduos portadores de 523 implantes e 2718 dentes. Dentes e implantes foram avaliados por meio de sondagem periodontal, observando-se a profundidade de sondagem, retração gengival, bem como foram avaliados índices de placa visível (IPV) e sangramento gengival (ISG) e presença de supuração. Os dados foram armazenados em fichas clínicas e avaliados estatisticamente por meio da estatística descritiva e inferencial. A idade média dos pacientes foi de 54,05 (± 12,61) anos, sendo 79,4% do sexo feminino. As frequências da mucosite, peri-implantite e periodontite em indivíduos foram 54%, 28% e 50%, respectivamente. Dos 523 implantes avaliados, 43% tinham mucosite, 14% peri-implantite e 43% saúde. Os testes Qui-quadrado de Pearson e Exato de Fisher mostraram que as doenças peri-implantares estão associadas as doenças periodontais, uso de medicação, alterações sistêmicas número de implantes, IPV, ISG, ao tempo de função das próteses, região do implante, número de roscas expostas e faixa de mucosa queratinizada (p<0,05). A análise de regressão múltipla, através da regressão binária logística, constatou que indivíduos que faziam uso de medicação (OR = 1,784), com um ISG > 10% (OR = 1,742), com implantes instalados na maxila (OR = 2,654), onde a prótese sobre o implante tinham mais de 2 anos em função (OR = 3,144) e que radiograficamente apresentavam uma perda óssea atingindo a terceira rosca do implante (OR = 4,701) mostram uma associação positiva com as doenças peri-implantares de maneira que esses indivíduos têm mais chances de ter essas doenças. Os resultados sugerem que a frequência das doenças peri-implantares na população em estudo foi de 82% dos pacientes e que estas doenças estão associadas a fatores relacionados aos indivíduos como: a presença da doença periodontal, piores IPV e IS, alterações sistêmicas, uso de medicação e maior número de implantes; e a fatores locais relacionados aos implantes como: ausência ou faixa de mucosa menor que 2mm, implantes na maxila e na região anterior, perda óssea atingindo a terceira rosca do implante e a um tempo de reabilitação prótetica maior que 2 anos

Doenças respiratórias associadas à atividade de mineração no município de Parelhas, região do seridó norte-riograndense

This work aims to characterize the workers in mineral activities exposed to lung injuries in Parelhas Municipality, Rio Grande do Norte State, seeking to relate respiratory diseases to the mining activity. The studied area (Parelhas City), with about 19,700 inhabitants, is located in the Serido region, approximately 232 km far from Natal City. The number of people involved in informal mining activity (garimpo) in the Seridó region reaches about 5,000. These workers generally do not use any kind of individual protection equipments and develop, at early ages of greater productivity, severe forms of diseases, which end up disabling them to professional activities, family and social life. Deceases by respiratory problems (e.g. silicosis) have been reported in very young adults. A descriptive observational study was conducted based on information from the records found in Dr. José Augusto Dantas Hospital, between the years 1996- 2006. The occupational and socio-economic features of the population, which was selected by using the hospital records, were achieved through individually answered forms. The purpose was to link the occupational activities with the respiratory diseases. The next stage of the research was an observational case-control study, in the 1:1 proportion. The achieved data allowed confirming the central hypothesis of the research, which states that the pneumoconiosis cases are due to the mineral-based activities in the studied area. The final step of the investigation tried to assess the knowledge of relatives of students in public and private elementary and high schools from Parelhas City, regarding silicosis. About 15.4% of urban schools were analyzed through application of a structured questionnaire. The results show distinct socio-economic levels and a difference in the perception of the relatives of students in public and private schools, concerning silicosis. It was possible to identify the characteristics of the population economically involved with mineral-based activities and to define the group that deserves preferential attention in preventive actions. The work indicates some environmental problems caused by inadequate mining operations in the region

Culicídeos vetores em uma unidade de conservação da caatinga na região do seridó no Rio Grande do Norte aspectos da transmissão de doenças

The scarcity of occurrence records of culicid species, transmitting insects of etiologic agents for arboviruses, protozoan diseases and philarioses, and lack of information about their interactions with the forest environment make the Caatinga one of the most unknown biomes in Brazil. The aim of this study was to identify culicid species in a conservation unit located in a preserved area of the Caatinga and the possible associations with local abiotic factors, as well as characterize the natural and artificial ecotopes present in the Caatinga of Rio Grande do Norte state. The Ecological Station of Serido (ESEC-Seridó) is a Caatinga Conservation Unit located in a rural area of Rio Grande do Norte. The hot and dry climate of the Caatinga, along with a short rainy season, favor the adaptation and resistance of plants, resulting in completely distinct landscapes over the course of the year. The study took place over the course of one year, with monthly collections between 10h-12h, 14h-16h and 18h-20h. Adult mosquitoes were collected in a forest area using a manual suction trap with human bait as attractant at the three times and a Shannon trap for night collections. During the rainy season ovitraps were randomly distributed at different sites. The different capture sites were observed and photographed. Immature and adult insects captured were taken to the laboratory for identification. Of the 5081 insects collected in human-bait and Shannon traps, 75% were Mansonia wilsoni. In addition, Aedeomyia, Aedes, Anopheles, Coquillettidia, Culex, Haemagogus, Mansonia and Psorophora were identified. Of the 92 Haemagogus eggs found, 71 were collected on the banks of a reservoir. Mosquito larvae were found and photographed in an artificial breeding site of a neighboring rural area. Humidity had the greatest influence on culicid density in the Caatinga. Rain was important in the appearance of Haemagogus, Anopheles, Aedes and Psorophora. Temperature had a negative influence on Anopheles triannulatus. The occurence of important vector species of diseases in a little known preserved area of the Caatinga as well as environmental and sociocultural questions are factors that favor the emergence of transmitting insects, making these areas potential subject to the resurgence of diseases

Doenças de Veiculação Hídrica em Trechos da Bacia do Rio Piranhas-Assu: ocorrência de bactérias oportunistas, caracterização epidemiológica e concepções de professores e agentes de saúde

Water is essential to life and all living organisms and their supply is necessary for economic development and quality of life of human populations, but their quality has been altered by human actions. In semi-arid northeast, the water is an issue of concern, especially its quality. This region is common to the construction of reservoirs that capture rain water, streams and temporary rivers in search of ease this situation, being intended for various purposes. Water scarcity is a limiting factor for the economic and social development of the region and contributes to the maintenance of waterborne diseases. About 80% of diseases that occur in developing countries are infected by waterborne pathogens. Therefore, this study aimed to determine in two environments that are part of semilênticos Armando Ribeiro Gonçalves reservoir, and a stretch of the river Assu, all located in the semiarid RN, the occurrence of opportunistic pathogenic bacteria; check the conceptions of teachers and health workers about the issues "waterborne diseases" and "bacteria" and a diagnosis of diarrheal diseases that affect the population in some municipalities of the semi-arid region of RN from a survey of epidemiological data. For identification of bacteria using commercial kits and the diagnosis of diarrheal disease was based on information from databases. The previous conceptions of teachers and health workers were obtained through questionnaires. The results confirmed the presence of opportunistic bacteria in the studied area, showing the importance of monitoring water quality. There was an under-reporting of cases of diarrhea pointing out flaws in the monitoring of Diarrheal Diseases and indicating the need to improve it. It was felt also the need to implement educational activities on topics dealt with both with teachers and health workers, since they were identified misconceptions on the subject

Determinantes genéticos e ambientais das doenças hipertensivas da gravidez

The development of complex diseases such as preeclampsia are determined by both environmental and genetic factors, but there is also interaction among these factors. Preeclampsia is a pregnancy-specific disorder characterized by de-novo hypertension and proteinuria after 20th week of gestation. There is a broad spectrum of clinical presentations related to hypertensive disorders of pregnancy (HDP) that can range from mild preeclampsia to eclampsia (seizures) or HELLP syndrome (Hemolysis, Elevation of Liver enzymes, Low Platelets). Those clinical outcomes might be linked to different pathological mechanisms. Our work aims to identify factors (i.e. genes and environmental) associated with the HDP’s clinical spectrum. Using a case-control approach, we selected a total of 1498 pregnant women for epidemiological and genetic studies, encompassing 755 normotensive (control); 518 preeclampsia; 84 eclampsia; and 141 HELLP. Women were genotyped for 18 SNPs across 5 candidate genes (FLT1, ACVR2A, ERAP1, ERAP2 and LNPEP). For the environmental factors, we found maternal age, parity status and pre-gestational body mass index as important risk factors associated with disease. Genes were associated in a phenotype-specific manner: ACVR2A with early preeclampsia (rs1424954, p=0.002); FLT1 with HELLP syndrome (rs9513095, p=0.003); and ERAP1 with eclampsia (rs30187, p=0.03). Our results suggest that different genetic mechanisms along with specific environmental factors might determine the clinical spectrum of HDP. In addition, phenotype refinement seems to be an essential step in the search for complex disease genes

Características bioativas, funcionais e efeito protetor do resíduo desidratado de camu-camu (Myrciaria dubia H.B.K. (McVaugh)) sobre doenças degenerativas utilizando modelos in vivo C. elegans

Camu-camu (Myrciaria dubia H.B.K. (McVaugh)) is a native Amazon fruit, recognized worldwide as one of the main natural sources of ascorbic acid. Due to its great acidity, this fruit is generally consumed after processing into juice or as ingredient in food preparations. As a co-product of the camu-camu processing, a significant amount of agroindustrial residue is generated. Despite the studies showing the bioactive value and biological potential of the fruit, few studies have approached the possible processing techniques, transformation and preservation of camu-camu fruits and its agroindustrial pomace. Therefore, the present work has the objective of evaluating two different drying processes applied to camu-camu pomace (peel and seeds with residual pulp), freeze drying and hot air drying, in order to obtain a functional fruit product. This thesis was divided into three stages: the first one shows the studies related to the freeze drying and hot air drying, where we demonstrated the impact of the selected drying techniques on the bioactive components of camu-camu, taking the fresh pomace as the control group. Among the investigated conditions, the groups obtained at 50ºC and 4 m/s (SC50) and 80ºC and 6 m/s (SC80) were selected as for further studies, based on their ascorbic acid final content and Folin-Ciocalteau reducing capacity. In addition to SC50 and SC80, the fresh pomace (RF) and freeze dried (RL) samples were also evaluated in these further stages of the research. Overall, the results show higher bioactive concentration in the RF samples, followed by RL, SC50 and SC80. On the second step of the research, the antioxidant, antimicrobial and antienzymatic activities were evaluated and the same tendency was observed. It was also reported, for the first time in the literature, the presence of syringic acid in dried camu-camu pomace. In the third and final stage of the research, it was investigated the effect of dried camu-camu on aging and neuroprotective disorders, using the in vivo model C.elegans. It was observed that camu-camu extracts were able to modulate important signaling genes relevant to thermal and oxidative stresses (p < 0.05). The polar acid, polar basic and polar neutral fractions obtained from the low molecular extracts of SC50 were able to extend the lifespan of wild type N2 C. elegans in 20% and 13% (p < 0.001). Results also showed that the paralysis induced by the β1-42 amyloid was significantly (p < 0.0001) retarded in CL4176 worms. Similarly, the camu-camu extracts attenuated the dopaminergic induction associated to Parkinson’s disease. Finally, a global analysis of the data presented here reveal that the camu-camu pomace, a co-product obtained from the industrial processing of a native Brazilian fruit, is a relevant natural source of health relevant compounds. This thesis, shows for the first time, the multifunctionality of camu-camu pomace, a natural resource still underexploited for scientific, commercial and technological purposes.