Abstract The present study evaluated 56 patients diagnosed with Chronic Lymphocytic Leukemia (CLL) and a control group of 44 clinically healthy subjects with no previous history of leukemia. Genetic expressions of AKT and microRNAs were evaluated by quantitative PCR (qPCR). A significant increase in AKT gene expression in patients when compared to controls was observed (p = 0.017). When the patients were stratified according to Binet subgroups, a significant difference was observed between the subgroups, with this protein kinase appearing more expressed in the B+C subgroup (p = 0.013). Regarding miRNA expression, miR-let-7b and miR-26a were reduced in CLL patients, when compared to controls. However, no significant differences were observed in these microRNA expressions between the Binet subgroups (A versus B+C). By contrast, miR-21 to miR-27a oncogenes showed no expression difference between CLL patients and controls. AKT protein kinase is involved in the signaling cascade that occurs with BCR receptor activation, leading to increased lymphocyte survival and protection against the induction of cell death in CLL. Thus, increased AKT protein kinase expression and the reduction of miR-let-7b and miR-26a, both tumor suppressors, may explain increased lymphocyte survival in CLL patients and may be promising markers for the prognostic evaluation of this disease.

Resumo Objetivo: Avaliar a sensibilidade e especificidade do algoritmo WINROP na deteção de retinopatia de prematuridade (ROP) numa amostra de prematuros portugueses. Métodos: Estudo retrospetivo que incluiu todos os recém-nascidos prematuros (RN) submetidos a rastreio de ROP no Centro Hospital Universitário do Porto entre Janeiro de 2010 a Maio de 2016. A idade gestacional (IG), peso à nascença e os pesos semanais dos RN, até uma idade pós-menstrual de 35-36 semanas, foram introduzidos na aplicação online do WINROP, que sinaliza com uma mensagem de alarme os RN em risco de desenvolver ROP tipo 1, que requer tratamento. Resultados: De um total de 496 RN submetidos a rastreio de ROP, 20 foram excluídos do estudo por registos incompletos e 101 por IG≥32 semanas. Dos RN com uma IG≥ 32 semanas, um desenvolveu ROP tipo 1 e foi submetido a tratamento. Dos 375 RN introduzidos no modelo WINROP, 231 (62%) registaram um sinal de alarme. Todos os RN com ROP tipo 1 foram identificados pelo sinal de alarme. O tempo médio entre o sinal de alarme e o tratamento foi de 11 semanas. O algoritmo WINROP apresentou uma sensibilidade e um valor preditivo negativo de 100% e uma especificidade de 42%. Conclusão: O modelo WINROP demonstrou ser sensível na deteção de prematuros com necessidade de tratamento. Embora com um valor de especificidade menor, a aplicação do algoritmo pode ajudar a reduzir substancialmente o número de exames realizados. Uma das limitações do modelo consiste na exclusão de RN com IG≥32 semanas.

Abstract Objective: To evaluate the sensitivity and specificity of the WINROP algorithm for predicting retinopathy of prematurity (ROP) in a population of Portuguese preterm infants. Methods: Retrospective study of all newborns who underwent ROP screening at Hospital Universitário do Porto from January 2010 to May 2016. Gestational age (GA), birthweight and weekly postnatal weight measurements of the newborns, up to a postmenstrual age of 35-36 weeks, were entered in the online application of WINROP, which signals with an alarm the newborns who are at risk of developing ROP type 1, which requires treatment. Results: Of a total of 496 RN undergoing ROP screening, 20 were excluded from the study by incomplete records and 101 by GA ≥32 weeks. Of the newborns with a GA≥32 weeks, one developed ROP type 1 and was treated. Of the 375 newborns introduced in the WINROP application, 231 recorded an alarm signal. All the newborns with type 1 ROP were identified by the alarm signal. The WINROP algorithm presented a sensitivity and a negative predictive value of 100% and a specificity of 41%. The mean time between the alarm signal and the treatment was 10 weeks plus 6 days. Conclusion: The WINROP model was 100% sensitive in the detection of preterm infants requiring treatment for ROP. Besides its lower specificity, WINROP application can reduce substantially the number of exams in ROP screening. One of the limitations of the model is the exclusion of newborns with GA≥32 weeks.

Resumo Objetivo: Apresentação da implementação de um projeto de rastreio de fatores de risco de ambliopia, numa população alargada portuguesa. Métodos: dois centros de referência foram selecionados para avaliar todas as crianças de 2 anos, na sua área de referenciação direta. Para o foto rastreio foi utilizado o PlusOptix ® A09. Nesta idade, os valores definidos para referenciação foram: ≥1 Dioptria (D) de anosimetropia, ≥1.5 D de astigmatismo, ≥2 D de miopia e ≥1.5 D de hipermetropia. Os resultados foram reportados a uma plataforma de leitura que permitiu ao oftalmologista ver todos os exames e providenciar uma consulta oportuna com uma avaliação oftalmológica completa para aqueles que precisavam. Resultados: Foram realizados 2867 foto rastreios na população elegível para ambos os centros de referência, perfazendo uma taxa de cobertura de 55%. Das 2611 crianças sob uma área de referência, 53% (n = 1395) aderiram ao rastreio. Dentro desse grupo, 17,5% (n = 245) foram referenciadas e 15,3% (n = 214) consultas foram realizadas. Verificou-se uma forte correlação entre a refração do PlusOptix® e a refração cicloplégica. Das 214 crianças observadas em consulta, foram prescritos óculos em 25,7% (n = 55), correspondendo a 3,9% de todas as crianças sob uma área de referência. Este método de triagem mostrou um valor preditivo positivo de 58,4%. Conclusão: Este programa de rastreio pode ser altamente relevante para erradicar a ambliopia não tratada na nossa população. Os resultados podem levar à implementação deste projeto em todo o país.

Abstract Purpose: To present the design and implementation of an amblyopia risk factors screening project, in a large based Portuguese population. Methods: Two referral centers have been enrolled to assess all children aged 2 under their direct referral area. The photoscreener used was PlusOptix ® A09. At this age, the cut-off defined for referral was: ≥1 Diopter (D) of anisometropia, ≥1.5D of astigmatism, ≥2D of myopia and ≥1.5D of hyperopia. The results were reported to a reading platform that allowed the ophthalmologist to see all exams, and provide timely appointment with a complete ophthalmologic assessment for those who needed. Results: A total of 2867 photo screens were made to the population eligible to both referral centers, which comprises a coverage rate of 55%. Out of 2611 children under one of the referral area, 53% (n=1395) adhered to the screening. Within these children, 17.5% (n=245) were referred and 15.3 % (n=214) appointments were performed. The comparison of refraction between PlusOptix ® and cycloplegic refraction showed a strong correlation regarding the sphere and cylinder values. From the 214 children observed in consultation, glasses were prescribed in 25.7% (n=55), corresponding to 3.9% of all screened children under one of the referral area. This screening method showed a positive predictive value of 58.4%. Conclusion: This screening program may be highly relevant to eradicate untreated amblyopia from our population. The results may lead to the implementation of this project to the whole country.

O objetivo deste estudo foi avaliar o estado da referenciação de crianças à especialidade hospitalar de oftalmologia, no Centro Hospitalar do Porto, analisando os motivos de referenciação, patologias diagnosticadas, eficácia dessa referenciação e o impacto visual nas crianças. Método: Estudo retrospetivo e descritivo dos processos clínicos das crianças com idade menor ou igual a 10 anos, referenciadas à consulta de oftalmologia pediátrica entre julho de 2011 e julho de 2012. Resultados: Um total de 649 crianças foi referenciado, tendo sido os motivos mais frequentes a suspeita de estrabismo em 41,9% dos casos, rastreio de patologia oftalmológica em 22,6% e suspeita de baixa acuidade visual (AV) em 15,2%. Das crianças referenciadas por suspeita de estrabismo confirmou-se o diagnóstico em 40,8% dos casos (média das idades 4,5±2,2 anos), sendo que 16,8% das crianças referenciadas por outros motivos apresentavam também estrabismo. No total, 62,3% foram classificados como endotropias e 32,3% como exotropias. Das crianças referenciadas por suspeita de baixa AV, confirmou-se o diagnóstico em 39% dos casos e a principal causa de diminuição da AV foram as ametropias (52% dos casos). Das crianças referenciadas por outros motivos, 13,3% apresentavam diminuição mensurável da AV e 20% tinham ametropias potencialmente ambliogénicas. Apenas 40% das crianças referenciadas por suspeita de baixa AV apresentavam registo de AV no pedido de referenciação. Foi diagnosticada ambliopia em 20,1% de todas as crianças observadas. Discussão: Os problemas que mais frequentemente motivaram a referenciação para oftalmologia pediátrica foram a suspeita de estrabismo e de diminuição da AV. No entanto, confirmou-se o diagnóstico em menos de metade das crianças referenciadas e uma percentagem significativa dos casos diagnosticados foi referenciado por outro motivo. A média das idades de diagnóstico de estrabismo foi tardia e a percentagem de ambliopia elevada. Este estudo reforça a importância da realização do exame oftalmológico de rastreio nos cuidados de saúde primários e o seu impacto na referenciação, diagnóstico e tratamento atempado destas patologias em idade pediátrica

The aim of this study was to evaluate the current state of the referral of children to the specialty of Ophthalmology at our Hospital-Centro Hospitalar do Porto, analyzing the reasons for referral, diagnosed diseases, effectiveness of referral and the visual impact on children. Methods: Retrospective and descriptive study of medical records of children aged ≤10 years-old referred to the Pediatric Ophthalmology Clinic, between July 2011 and July 2012. Results: A total of 649 children were referred and the most frequent reasons included suspected strabismus in 41.9%, screening for ocular pathology in 22.6%, and suspected low visual acuity (VA) in 15.2% of the cases. Amongst children referred for suspected strabismus, the diagnosis was confirmed in 40.8% of the cases (mean age of 4.5±2.2 years); 16.8% of children referred for other reasons also had strabismus. 62.3% were classified as esotropias and 32.3% as exotropias. Amongst the children referred for suspected low VA, the diagnosis was confirmed in 39% of the cases, and the main cause were ametropias (52% of cases). Of the children referred for other reasons, 13.3% had a measurable decrease in AV and 20% had potentially amblyogenic ametropias. Only 40% of the children referred by suspected low VA had a VA evaluation in the referral request. Amblyopia was diagnosed in 20.1% of all children observed. Discussion: The problems that most frequently motivated referral for pediatric ophthalmology were the suspicion of strabismus and of decreased VA. However, the diagnosis was confirmed in less than half of the referred children, and a significant percentage of diagnosed cases was referred for another reason. The mean age of diagnosis of strabismus was late, and the percentage of amblyopia was high. This study reinforces the importance of conducting ophthalmologic screening in primary health care, and its impact on a timely referral, diagnosis and treatment of these pediatric diseases

ABSTRACT Many countries in the Americas have detected local transmission of multiple arboviruses that cause febrile illnesses. Therefore, laboratory testing has become an important tool for confirming the etiology of these diseases. The present study aimed to compare the sensitivity and specificity of three different Zika virus detection assays. One hundred serum samples from patients presenting with acute febrile symptoms were tested using a previously reported TaqMan® RT-qPCR assay. We used a SYBR® Green RT-qPCR and a conventional PCR methodologies to compare the results. Of the samples that were determined to be negative by the TaqMan® RT-qPCR assay, 100% (Kappa = 0.670) were also found to be negative by SYBR® Green RT-qPCR based on Tm comparison; however, 14% (Kappa = 0.035) were found to be positive by conventional PCR followed by agarose gel electrophoresis. The differences between the ZIKV strains circulating worldwide and the low viremia period can compromise diagnostic accuracy and thereby the accuracy of outbreak data. Therefore, improved assays are required to improve the diagnosis and surveillance of arbovirus.

OBJECTIVE: To study the prevalence of systemic hypertension and its control in the population of Catanduva, in the state of São Paulo, Brazil. METHODS: We carried out a randomized cross-sectional population-based study of the urban population of Catanduva with individuals above 18 years of age (688 individuals accounting for 0.9% of the referred population). We interviewed study participants to analyze the major qualitative and quantitative variables that could influence the hypertensive scenario and the risk for systemic hypertension. Blood pressure was measured through the indirect method according to the III Consenso Brasileiro de Hipertensão (III Brazilian Consensus on Hypertension), which established blood pressure levels > or = 140/90 mm Hg as hypertensive. RESULTS: The prevalence of systemic hypertension was higher in individuals with: (1) history of hypertension (p<0.0001); (2) diabetes mellitus (p=0.05); (3) body mass index (B. M. I) > or = 25 kg/m² (p<0.001); (4) low educational level (p<0.0001); (5) familial income ranging from 1 to 5 minimum wages (p<0.05); (6) unmarried status (divorced/separated and widow(er)s) (p<0.0001). Of the interviewed individuals, 27.6% (p=0.05) had blood pressure levels under control. CONCLUSION: Our study showed that the prevalence of systemic hypertension was 31.5%, and that 27.6% of the individuals interviewed had blood pressure levels under control at the time of the interview.