Le toucher joue un rôle prépondérant dans notre vie quotidienne. Il est connu depuis longtemps que l’acuité tactile peut être améliorée par effet de la plasticité cérébrale, suite à entraînement. Une autre forme d’amélioration, indépendante de l’entraînement, peut être obtenue grâce à une simple stimulation mécanique d’une petite région de la peau, appelée stimulation somatosensorielle répétée (RSS). Avant de commencer ce travail de thèse, il avait été montré que la RSS pouvait améliorer l’acuité tactile localement (sur le doigt stimulé) et aussi à distance (sur le visage) mais la topographie de l’amélioration tactile, notamment sur les autres doigts, demeurait inconnue. Également, l’hypothèse d’appliquer la RSS sur une autre région du corps (notamment le visage) et vérifier ses effets à la fois locaux sur le visage, ainsi qu’à distance sur les doigts, n’avait jamais été investiguée. Le but de mon travail de thèse constituait donc à investiguer la topographie de l’amélioration tactile induite par RSS au sein d’une même et entre plusieurs régions du corps. Une première étude a révélé que la RSS d’un doigt est capable d’induire une amélioration tactile locale ainsi qu’à distance entre les deux mains. La deuxième étude a prouvé que la RSS d’une région du visage est capable d’induire une amélioration tactile locale ainsi qu’une amélioration tactile à distance sur la main. De plus, l’effet d’amélioration tactile entre la main et le visage est bidirectionnel. Dans leur ensemble, les données expérimentales constituent une contribution significative à l'étude de la topographie des changements tactiles induits par la RSS / Touch plays a fundamental role in our daily activities. It has long been known that, thanks to brain plasticity, tactile acuity can be improved following training. Another form of tactile improvement, independent from training, can be achieved through a simple mechanical stimulation of a small region of the skin, called repetitive somatosensory stimulation (RSS). RSS of a finger was well known to improve tactile acuity locally (on the stimulated finger) and also remotely (on the face). However, topography of tactile improvement, especially on other unstimulated fingers, was unknown. In addition, the hypothesis of applying the RSS to another body region (notably the face) and investigate the possible effects, both in face and fingers, was not explored. The aim of this work of thesis was therefore investigating the topography of the RSS-induced tactile improvement within and between body regions. One first study revealed that RSS of a finger induces tactile improvement both locally and remotely in fingers. The second study showed that, when applied on the face, RSS is able to induce tactile improvement both locally, on the face, and remotely, in the hand, demonstrating that the tactile improvement between the hand and the face is bidirectional. Overall, the experimental data I provide constitute a significant contribution to the study of the topography of RSS-induced tactile changes

<p>In a prospective population-based study in Stockholm County, 1998-2000, the incidence of retinopathy of prematurity (ROP) was investigated and was found to be 36% in prematurely-born infants with a birth weight of ≤ 1500 grams. Compared to a study performed ten years ago, the overall incidence was unchanged, but was reduced in “mature” infants and increased in immature ones. The incidence of ROP was 25% in infants with a gestational age of ≤ 32 weeks at birth. The main risk factors for ROP were the gestational age at birth, followed by the birth weight. Current guidelines for ROP screening in Sweden were modified.</p><p>A 10-year follow-up study of the ophthalmological findings in prematurely-born children, previously included in a prospective population-based incidence study of ROP, was performed. The children were compared with full-term ones. </p><p>Prematurely-born children ran a four times higher risk of refractive errors than full-term ones. The cryotreated children had the highest risk, but those without ROP also had more refractive errors than the full-terms. Within the group of prematurely-born children, the cryotreated ones had the highest prevalence of myopia, astigmatism and anisometropia, but no difference was found regarding hypermetropia.</p><p>The visual acuity of prematurely-born children was poorer than that of the full-terms. The cryotreated children and those with neurological complications had the most marked reduction, but the children without ROP and neurological findings also had a poorer visual outcome than the full-terms. The prevalence of visual impairment was 1.8% among the prematurely-born children, and was due to ROP in half the cases and cerebral lesions in the others. </p><p>The cryotreated children had constricted peripheral visual fields compared to the untreated prematurely-born and full-term children. The central visual fields tended to be reduced in the prematurely-born children compared to the full-terms, but no difference was observed within the preterm group.</p>

In a prospective population-based study in Stockholm County, 1998-2000, the incidence of retinopathy of prematurity (ROP) was investigated and was found to be 36% in prematurely-born infants with a birth weight of ≤ 1500 grams. Compared to a study performed ten years ago, the overall incidence was unchanged, but was reduced in “mature” infants and increased in immature ones. The incidence of ROP was 25% in infants with a gestational age of ≤ 32 weeks at birth. The main risk factors for ROP were the gestational age at birth, followed by the birth weight. Current guidelines for ROP screening in Sweden were modified. A 10-year follow-up study of the ophthalmological findings in prematurely-born children, previously included in a prospective population-based incidence study of ROP, was performed. The children were compared with full-term ones. Prematurely-born children ran a four times higher risk of refractive errors than full-term ones. The cryotreated children had the highest risk, but those without ROP also had more refractive errors than the full-terms. Within the group of prematurely-born children, the cryotreated ones had the highest prevalence of myopia, astigmatism and anisometropia, but no difference was found regarding hypermetropia. The visual acuity of prematurely-born children was poorer than that of the full-terms. The cryotreated children and those with neurological complications had the most marked reduction, but the children without ROP and neurological findings also had a poorer visual outcome than the full-terms. The prevalence of visual impairment was 1.8% among the prematurely-born children, and was due to ROP in half the cases and cerebral lesions in the others. The cryotreated children had constricted peripheral visual fields compared to the untreated prematurely-born and full-term children. The central visual fields tended to be reduced in the prematurely-born children compared to the full-terms, but no difference was observed within the preterm group.

Esse estudo teve o objetivo de verificar se a apresentação DICÓTICA (ou espacializada, sistema de áudio em 3D) de duas frases simultâneas facilitaria a compreensão da frase alvo em relação à apresentação diótica (não espacializada). Participaram dessa pesquisa controladores de tráfego aéreo (CsVoo), divididos em dois grupos de acordo com sua experiência profissional (novatos e experientes). Todos os participantes tinham o Português Brasileiro como língua-mãe, mas as duas frases apresentadas a eles pelo protocolo experimental (uma alvo, outra mascaradora) eram em inglês. A espacialização das mensagens beneficiou o reconhecimento da mensagem alvo pelos voluntários. Não houve diferenças significativas entre voluntários com diferentes níveis de conhecimento em inglês, experiência profissional ou sexo. / This study aimed to verify whether the dichotic or spatialized (3D audio system) presentation of two simultaneous sentences in English facilitate the identification of a target information comparing to dihotic (nonspatialized) presentation. The subjects in this study were air traffic controllers having as L1 (mother tongue) Brazilian Portuguese, and were divided into two groups (novice and experienced), according to their period of experience on the job. The spatialization of messages improved recognition of the target message by the volunteers. There were no significant differences between volunteers with different levels of knowledge in English, professional experience or gender.

O objetivo do estudo foi medir a acuidade visual (AV) em crianças com diagnóstico de hidrocefalia, apresentando ou não a válvula de derivação ventricular (DVP). Participaram da pesquisa um total de 55 crianças (34 F e 21M) com diagnóstico de hidrocefalia (45 com DVP e 10 sem DVP), com idade entre zero a 291 semanas (média 74 semanas). A AV foi medida pela técnica do Potencial Visual Evocado de Varredura e os resultados foram comparados a valores de referência (Norcia, 1985b). Os diagnósticos etiológicos que levaram à hidrocefalia foram: hemorragia intracraniana (25 crianças), mielomeningocele (20 crianças) e hidrocefalia congênita (10 crianças). O diagnóstico de hidrocefalia foi estabelecido em média no 16° dia de vida. Verificamos que, 31 crianças tiveram o procedimento realizado com menos de 15 dias do diagnóstico de hidrocefalia enquanto que em 14 a válvula foi instalada após 15 dias. Das 55 crianças avaliadas no 1° exame, 18 fizeram o 2° exame, 13 fizeram o 3° exame, 10 completaram quatro exames e apenas cinco completaram as cinco avaliações. Os resultados mostram que dentre as 101 avaliações de AV realizadas em todas as crianças, 95 exames (94%) se mostraram alterados e seis normais. Não há diferença estatística entre a AV das crianças sem derivação em comparação com aquelas crianças cuja DVP foi realizada com tempo de derivação maior que 15 dias (p = 0.699). Houve, todavia, uma diferença estatística na AV, quando comparamos as crianças, cujas derivações foram realizadas em até 15 dias do diagnóstico da hidrocefalia, com aquelas cuja derivação foi realizada após 15 dias (p = 0.038) ou com aquelas que não foram derivadas (p = 0.031). Crianças que não tiveram complicações na DVP tiveram um melhor resultado de AV quando comparado com o grupo com complicação (p = 0.0001). No grupo de crianças com complicação, novamente aquelas que foram derivadas com tempo inferior a 15 dias do diagnóstico da hidrocefalia apresentou melhores resultados de AV quando comparado com aquelas crianças com complicação cuja derivação foi realizada com mais de 15 dias (p = 0.029). Nós concluímos que é possível a medida da acuidade visual de resolução pelos PVEs de varredura em crianças com diagnóstico de hidrocefalia e os valores geralmente são piores comparando aos valores normativos. O tempo da derivação e o número de complicações decorrentes da DVP parecem interferir nesta diferença. Em nosso conhecimento, este foi o primeiro trabalho a avaliar progressivamente, a acuidade visual de crianças, nos primeiros anos de vida, com hidrocefalia, com ou sem DVP e correlacionar o resultado com o tempo de derivações e número de complicações. Apesar da grande evolução tecnológica alcançada pela oftalmologia, ainda não somos capazes de prevenir as alterações visuais detectáveis pelo simples exame de AV nas crianças com hidrocefalia. O tempo para a inserção da válvula de derivação e o tratamento para as complicações ainda são medidas retardadas devido à prematuridade, instabilidade hemodinâmica e a não autorização do familiar. Estes motivos podem comprometer o desenvolvimento visual destas crianças. / The objective was to measure the visual acuity (VA) of children with the diagnosis of hydrocephalus with or without peritoneal-ventricular shunt (PVS). A total of 55 children with the diagnosis of hydrocephalus (45 with PVS and 10 without PVS) were included in the study (34F and 21M), with an age range of 0 to 291 weeks (mean=74 weeks). The VA was measured by the sweep visual evoked potential technique and the results were compared with reference values proposed by Norcia (1985b). Etiological diagnosis of the hydrocephalus was as follows: intracranial hemorrhage (25 children), meningomyelocele (20 children) and congenital hydrocephalus (10 children). The diagnosis of hydrocephalus was made in an average time of 16 days of life. After the diagnosis, the insertion of the PVS, when made, was accomplished in average on the 16th day. Of those with a PVS, in 31 the ventricular valve was inserted before 15 days after the diagnosis whereas in 14 in shunt was inserted after 15 days. Of the 55 children evaluated in the first exam, 18 were evaluated in a second exam, 13 did the third exam, 10 completed 4 exams and only 5 completed the 5 evaluations. The results of the 101 sweep visual evoked potential performed in all children, 95 exams (94%) were abnormal and only 6 were normal. There was no statistical difference in the VA of children without a ventricular shunt in comparison with those in which the shunt was inserted after 15 days of the diagnosis of hydrocephalus (p=0.699). There was, however, a statistical difference in the VA between children with a ventricular shunt inserted before 15 days of the diagnosis and children with a ventricular shunt after 15 days (p=0.038) or those without a shunt (p=0.031). Children with no complications of the ventricular shunt had a better VA as compared to those with shunt complications (p= 0.0001). In the group of children with complications, again those who had a shunt inserted before 15 days bad better VA results in comparison to those in whom the shunt was inserted after 15days (p=0.029). We concluded that measuring visual acuity by sweep visual evoked potential is feasible in children with the diagnosis of hydrocephalus and that results are usually worse comparing with reference values. The timing for insertion of a ventricular shunt and the occurrence of complications of this procedure are factors that may influence the VA. To our knowledge, this is the first study that progressively evaluated the VA in children, of early age, with hydrocephalus, with or without a ventricular shunt and correlated the VA with the timing and complications of the ventricular shunt. Despite the great technological advance in ophthalmology, we are still unable to prevent visual impairments, detectable by simple visual acuity tests, in children with hydrocephalus. The timing of the insertion of the ventricular shunt and the adequate treatment of the potential complications may be delayed due to prematurity, hemodynamic instability and family refusal. This delay may compromise the visual development of these children.

Medimos a acuidade visual em crianças com paralisia cerebral do tipo espástica, classificadas em tetraplégicas, diplégicas e hemiplégicas, de acordo com o seu prejuízo motor, pelo método dos potenciais visuais evocados de varredura. Encontramos uma redução na acuidade visual em todos as crianças com tetraplegia e diplegia e em 94% das crianças com hemiplegia. Ambliopia foi identificada em 16% das crianças. Uma alta correlacão entre o prejuízo motor e a redução da acuidade visual foi encontrada para todas as classes. Concluímos que a acuidade visual está reduzida na paralisia cerebral espástica e que esta é de origem cortical, uma vez que o exame oftalmológico de todas as crianças era normal. / We measured the visual acuity in children with spastic cerebral palsy classified as tetraplegic, diplegic and hemiplegic according to their motor impairment by the sweep visual evoked potential method. We found a reduction in the visual acuity of all tetraplegic and diplegic and in 94% of the hemiplegic children. Ambliopia was found in 16% of children. A high correlation was found between the motor impairment and the reduction in the visual acuity. We conclude that the visual acuity was reducted in the spastic cerebral palsy and the origins are presumed to be cortical since the ophthalmological exam in all children was normal.

INTRODUÇÃO: A degeneração macular relacionada à idade (DMRI) é a principal causa de perda de visão irreversível e cegueira mundialmente. A perda da visão central interfere nas atividades de vida diária, como o reconhecimento facial, leitura e escrita, direção de veículos automotores e em atividades funcionais e de lazer. Esta perda de visão relaciona-se também com o desencadeamento de quadros de ansiedade e depressão. Este estudo avaliou a qualidade de vida visual em pacientes com degeneração macular relacionada à idade neovascular por meio do questionário de função visual 25-item National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25). MÉTODOS: Estudo clínico observacional de 87 pacientes de ambos os sexos, com idade >= 50 anos e com o diagnóstico de DMRI neovascular unilateral ou bilateral. Todos os pacientes responderam ao questionário de função visual NEI VFQ- 25 no final do tratamento em regime Tratar e Estender ou PrONTO, com as drogas antiangiogênicas ranibizumabe ou aflibercepte. RESULTADOS: A idade dos pacientes foi a variável que menos influenciou a qualidade de vida visual dos pacientes. O gênero teve uma influência um pouco maior que a idade, no entanto, a lateralidade da doença demonstrou maior influência na qualidade de vida visual, comparada ao gênero e idade dos pacientes e foi significante para oito dos 12 domínios do questionário de função visual NEI VFQ-25. Os pacientes com acometimento bilateral tiveram pontuações mais baixas que os com doença unilateral em todos os domínios do questionário. A acuidade visual corrigida (AVc) foi a variável que apresentou o maior número de domínios com valores significantes e, portanto, foi a variável que mais se correlacionou com a qualidade de vida visual. A AVc do melhor olho (MO) foi significante para a maioria dos domínios relacionados com a visão, ao contrário do pior olho (PO) que não foi significante para nenhum domínio do questionário. CONCLUSÃO: Todas as variáveis testadas afetaram a qualidade de vida visual dos pacientes, onde a lateralidade teve uma maior influência, seguida pela idade e sexo dos pacientes. Na tomada de decisão para o tratamento de pacientes com DMRI neovascular, pelo menos para esta população, a manutenção da AVc do MO >= 0,5 (escala decimal de Snellen) foi essencial para a manutenção de boa qualidade de vida visual, independente da AVc do PO, que não teve efeito significante em nenhum domínio do questionário de função visual NEI VFQ-25 / INTRODUCTION: The neovascular age-related macular degeneration (AMD) is the main cause of irreversible loss of vision and blindness woldwide. The loss of the central visual field interferes on daily activities such as facial recognition, reading and writing, driving as well as functional and leasure activities. This loss of vision may also increases anxiety and depression for this age group. To evaluate the impact of neovascular AMD on the visual quality of life of patients using the 25-item National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25). METHODS: This was an observational clinical, with 87 patients of both genders, with age >= 50 years and a clinical diagnosis of unilateral or bilateral neovascular age related macular degeneration. All patients answered the visual functioning questionaire NEI VFQ-25 at the end of the treatment with the Treat and Extend or PrONTO regimen using antiangiogenic drugs ranibizumab or aflibercept. RESULTS: The age of patients was the variable with the lower influence on the quality of life of the patients. Gender had an influence slightly higher then the age, however, the laterality of the disease had the highest influence on the quality of life, compared with age and gender, and was significant for 8 of the 12 domains of the visual functioning questionaire NEI VFQ-25. The patients with bilateral age-related macular degeneration had lower scores than patients with unilateral disease for all domains of the questionaire. Visual acuity was the variable with the higher number of domains with significant values, and therefore the variable with the higher correlation with the quality of life. The visual acuity of the best eye (BE) was significant for most of the vision related domains, in opposition the the visual acuity of the worst eye (WE) which was not significant for any domain of the questionaire. CONCLUSION: All variables tested affected the visual quality of life, where the laterality of the disease had the highest influence, followed by the age and gender of the patients. The decision process for the treatment of patients with neovascular AMD, at least for this population, keeping the visual acuity of the BE >= 0,5 (Snellen\'s decimal scale) was essential to maintain a long term quality of life, despite the visual acuity of the worst eye, that had no significant effect on any domain of the visual functioning quaestionaire NEI VFQ-25

Orientador: Maria de Fátima Sonati / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-25T22:02:31Z (GMT). No. of bitstreams: 1 Fernandes_ThalesAllyrioAraujodeMedeiros_D.pdf: 2937928 bytes, checksum: 301442af6cf4af176a07dec075589b81 (MD5) Previous issue date: 2014 / Resumo: As doenças falciformes apresentam uma heterogeneidade fenotípica substancial e vários fatores, tanto genéticos quanto ambientais, contribuem para esta variabilidade. A co-herança com a talassemia ? e os haplótipos ?S são considerados importantes moduladores genéticos da doença, mas outros fatores hereditários podem também influenciar os perfis clínicos e laboratoriais dos pacientes. Estudos têm sugerido que os genótipos da haptoglobina (Hp) poderiam estar entre esses fatores. Assim, o presente estudo objetivou avaliar o efeito da presença da talassemia ?, dos diferentes haplótipos ?S e dos genótipos da haptoglobina na evolução clínica e nas características laboratoriais de pacientes com doença falciforme provenientes do estado do Rio Grande do Norte (RN). Foram analisados 155 indivíduos não aparentados (82 homens e 73 mulheres), com idades variando de 7 meses a 48 anos (mediana de 12 anos), provenientes de diversos municípios do RN e atendidos nos centros de referência de tratamento de doenças hematológicas para acompanhamento ambulatorial. Todos os pacientes, ou seus responsáveis, foram informados a respeito dos objetivos e procedimentos da pesquisa, e responderam a um questionário padronizado. Ao final, coletaram-se alíquotas de sangue periférico para a realização das análises hematológicas, bioquímicas e moleculares. Posteriormente, foram examinados os prontuários médicos arquivados nestes centros, de onde foram obtidas as informações relativas à evolução clínica (número de internações e transfusões nos últimos 12 meses, necessidade de estabelecimento de terapia transfusional crônica, desenvolvimento de infecções bacterianas graves, síndrome torácica aguda, sequestro esplênico, alterações cerebrovasculares, priapismo, úlcera de perna, necrose óssea, problemas cardiovasculares, renais e oftalmológicos, colelitíase, déficit ponderal e retardo no crescimento). Predominaram os indivíduos com idades inferiores a 12 anos, que se autodeclararam mulatos, que moravam em pequenas cidades relativamente distantes dos centros de referência e que possuíam baixo nível educacional e socioeconômico. Os pacientes com idades inferiores a 10 anos foram diagnosticados com a doença mais precocemente. Quase 50% dos indivíduos analisados faziam uso de hidroxiuréia, 91,4% relatou ter recebido vacinação pneumocócica/meningocócica e 76,1% já tinha feito uso profilático de penicilina alguma vez na vida. A co-herança com a talassemia alfa foi encontrada em 11,6% dos pacientes e não mostrou associação significativa com nenhuma das complicações clínicas avaliadas. No entanto, os pacientes ?-talassêmicos apresentaram maiores níveis de hemácias e hematócrito, e menores valores de hemoglobina corpuscular média (HCM). Os haplótipos ?S mais frequentes foram o CAR (77,5%), Benin (11,9%) e Camarões (5,5%). A homozigoze do haplótipo CAR esteve associada à maior incidência de retardo no crescimento, enquanto as demais combinações de haplótipos apresentaram valores significativamente maiores de hemoglobina e hemácias. A distribuição dos genótipos da haptoglobina estava em equilíbrio de Hardy-Weinberg em todos os grupos considerados e o tipo predominante foi o Hp2-1 (47,7%). As frequências dos alelos HP*1 (0,503) e HP*2 (0,497) foram muito semelhantes. A herança do alelo HP*2 se correlacionou significativamente com a necessidade de implementação da terapia transfusional crônica ao longo da vida e a níveis mais elevados de ferritina. Já os homozigotos do alelo HP*1 (18 pacientes) apresentaram níveis mais elevados de LDH e AST, que deixaram de ser significativos quando se incluiu na análise os indivíduos que faziam uso da hidroxiuréia (10 pacientes). Nossos resultados sugerem que os fatores genéticos aqui avaliados influenciaram em algum grau a evolução clínica e/ou os perfis laboratoriais dos pacientes desta amostra populacional. A ausência de associação significativa com as demais complicações aqui investigadas reflete a natureza multifatorial da doença e a necessidade de ampliação do tamanho amostral em estudo / Abstract: Sickle cell disease presents a significant phenotypic heterogeneity, and both genetic and acquired factors contribute to this variability. Co-inheritance of alpha-thalassemia and ?S haplotypes are the major genetic modifiers of the disease, but others inherited features can influence the clinical and laboratorial profile of the patients. Reports have suggested that haptoglobin genotypes could be one. Therefore, this study aimed to evaluate the effect of alpha thalassemia, ?S haplotypes and genotypes of haptoglobin in the clinical outcome and laboratorial characteristics of patients with sickle cell disease of Rio Grande do Norte State (RN). We analyzed 155 non-related individuals (82 men and 73 women) with sickle cell disease from various municipalities of RN, ages ranging from 7 months to 48 years (median age 12 years), who went to referral centers for outpatient visits. All the patients, or their caregivers, were informed about the research procedures and objectives, and answered a standardized questionnaire. After this, we collected blood samples for hematological, biochemical, and molecular analyses. Additionally, clinical data (number of blood transfusions and hospital admission in the last 12 months, need for chronic transfusion therapy, development of severe bacterial infections, acute chest syndrome, splenic sequestration, cerebrovascular disease, priapism, leg ulcers, osteonecrosis, cardiovascular, renal, and ophthalmologic problems, gallstones, weight deficit and stunted growth) were obtained from the patients¿ medical records archived in these referral centers. The patients were predominantly younger than 12 years old, self-declared as mulatto, lived in small cities relatively distant from the referral center, and had a low education and socio-economic level. Individuals who were 10 or younger were diagnosed at an earlier age. Almost 50% of the patients were taking hydroxyurea, 91.4% reported having received pneumococcal/meningococcal vaccination and 76.1% have ever done prophylactic use of penicillin. The co-inheritance of alpha thalassemia was found in 11.6% of patients and presented no significant association with any clinical complication of sickle cell disease. However, patients with this genetic feature had higher red blood cell (RBC) counts and packet cell volume (PCV), and lower values of mean corpuscular hemoglobin (MCH). The ?S haplotypes more frequent were CAR (77.5%), Benin (11.9%) and Cameroon (5.5%). The homozygous CAR/CAR haplotype was associated with higher incidence of stunted growth, while the other haplotype presented higher hemoglobin and RBC. The distribution of haptoglobin genotype were in Hardy-Weinberg equilibrium in all the groups, and the predominant type was Hp2-1 (47.7%). The frequencies of HP*1 (0.503) and HP*2 (0.497) alleles were similar. The inheritance of HP*2 allele was significantly correlated to the requirement of chronic transfusion therapy and higher levels of ferritin. On the other hand, the Hp1-1 patients (18 individuals) had higher levels of LDH and AST, that were not significant when we included in the analysis the individuals who were using hydroxyurea (10 individuals). Our results suggest that the genetic characteristics evaluated in this study influenced in a certain extent the clinical outcome and/or laboratorial profile of patients with sickle cell disease from RN. The absence of significant association with the others clinical complications reflect the multifactorial nature of these events and the need to increase the analyzed sample size / Doutorado / Ciencias Biomedicas / Doutor em Ciências Médicas

Successful triage is the basis for sound emergency department (ED) care, whereas unsuccessful triage could result in adverse outcomes. ED triage is a rather unexplored area in the Swedish health care system. This thesis contributes to our understanding of this complex nursing task. The main focus of this study has been on the organisation, performance, and decision making in Swedish ED triage. Specific aims were to describe the Swedish ED triage context, describe and compare registered nurses’ (RNs) allocation of acuity ratings, use of thinking strategies and the way they structure the ED triage process. In this descriptive, comparative, and correlative research project quantitative and qualitative data were collected using telephone interviews, patient scenarios and think aloud method. Both convenience and purposeful sampling were used when identifying the participating 69 nurse managers and 423 RNs from various types of hospital-based EDs throughout the country. The results showed national variation, both in the way triage was organised and in the way it was conducted. From an organisational perspective, the variation emerged in several areas: the use of various triageurs, designated triage nurses, and triage scales. Variation was also noted in the accuracy and concordance of allocated acuity ratings. Statistical methods provided limited explanations for these variations, suggesting that RNs’ clinical experience might have some affect on the RNs’ triage accuracy. The project identified several thinking strategies used by the RNs, indicating that the RNs, amongst other things, searched for additional information, generated hypotheses about the fictitious patients and provided explanations for the interventions chosen. The RNs formed relationships between their interventions and the fictitious patients’ symptoms. The RNs structured the triage process in several ways, beginning the process by searching for information, generating hypotheses, or allocating acuity ratings. Comparison of RNs’ use of thinking strategies and the structure of the triage process based on triage accuracy revealed only slight differences. The findings in this dissertation indicate that the way a patient is triaged, and by whom, depends upon the particular organisation of the ED. Moreover, the large variation in RNs triage accuracy and the inter-rater agreement and concordance of the allocated acuity ratings suggest that the acuity rating allocated to a patient may vary considerably, depending on who does the allocation. That neither clinical experience nor the RNs’ decision-making processes alone can explain the variations in the RNs triage accuracy indicates that accuracy might be influenced by individual and contextual factors. Future studies investigating triage accuracy are recommended to be carried out in natural settings. In conclusion, Swedish ED triage is permeated by diversity, both in its organisation and in its performance. The reasons for these variations are not well understood.

Introduction A full-thickness macular hole (FTMH) is a round deformity in the fovea that involve alllayers of the neurosensory retina. The condition is usually symptomatic and is associatedwith a decreased visual acuity (VA). Large FTMHs are associated to a larger decrease in VA.To treat FTMH pars plana vitrectomy (PPV) is performed to repair the hole. There aredifferent dimensions of instruments in PPV but limited information on the outcome usingeach dimension. Aim This study aims to assess the healing rate of large FTMHs after 25-gauge vitrectomy. Methods The study is a retrospective record review. Patients were identified through the surgicalintervention registry at the Department of Ophthalmology, USÖ. The study included largeFTMHs (diameter &gt; 400 μm) who underwent 25-gauge PPV at USÖ between 2015-2017. Results After 25-gauge PPV 19 (82.6%) out of 23 included eyes healed. No significant difference inhealing rate between subgroups of different sized FTMHs was discovered. Out of 4 eyes thatfailed to heal, 1 patient underwent a reoperation and the other 3 either chose not to or it wasdeemed not indicated. A statistically significant increase in mean VA postoperatively wasobserved. The most reported complications postoperatively were gas cataract and atemporary increase in intraocular pressure. In 7 cases the PPV led to an accelerateddevelopment of cataract and cataract surgery. Conclusion The majority of FTMHs healed after 25-gauge PPV and the mean VA increased after surgery.The most common complications were secondary cataract and temporary increase in IOP.