Ocular cysticercosis in pediatric patient / Cisticercose ocular em paciente pediátrico

ABSTRACT Ocular cysticercosis is a parasitic infection caused by Taenia solium. Its early diagnosis and treatment decreases the possibility of visual morbidity. It can either compromise the anterior chamber or the posterior segment, which translates into an very variable and interspecific presentation that changes depending on the site of the infection. It is important to report this case due to its low presentation rate and the fact that a high suspicion index is required to make an assertive and timely diagnosis. This is especially important in geographical areas that are endemic to this parasite due to the direct relationship between an early diagnosis and treatment and better visual outcomes. In this case report, we will discuss the multidisciplinary interventions of a pediatric patient in a high complexity hospital.

RESUMO A cisticercose ocular é uma infecção parasitária causada pela Taenia solium. O diagnóstico e tratamento precoces diminuem a possibilidade de morbidade visual. Ela pode comprometer a câmara anterior ou o segmento posterior, o que se traduz em uma apresentação muito variável e interespecífica, que muda dependendo do local da infecção. É importante relatar esse caso devido à sua baixa taxa de apresentação e ao fato de que é necessário um alto índice de suspeita para fazer um diagnóstico assertivo e oportuno. Isso é especialmente importante em áreas geográficas endêmicas para esse parasita, devido à relação direta entre diagnóstico e tratamento precoces e melhores resultados visuais. Neste relato de caso, discutiremos as intervenções multidisciplinares de um paciente pediátrico em um hospital de alta complexidade.

microRNA-144 functions as a diagnostic and prognostic marker for retinoblastoma

OBJECTIVES: Retinoblastoma (RB) is a highly malignant eye tumor with a low survival rate and a high metastatic rate. The current work was designed to investigate the potential roles of microRNA-144 (miR-144) in the diagnosis and prognosis of RB. METHODS: miR-144 expression levels in RB tissues and adjacent normal tissues, as well as serum samples from RB patients and healthy controls were measured. The association between miR-144 expression levels and clinical features were analyzed. Moreover, diagnostic and prognostic values of miR-144 in RB were verified by receiver operating characteristic analysis and Kaplan-Meier survival assays. RESULTS: The expression level of miR-144 was markedly decreased in tumor tissues of RB patients, and the expression level of miR-144 was positively associated with tumor size and metastasis in RB patients. Moreover, miR-144 can distinguish tumor tissues from normal tissues with high specificity and sensitivity, and RB patients with lower miR-144 expression have shorter overall and disease-free survival rates than those with higher miR-144 expression. Alternatively, miR-144 also decreased in the serum of RB patients in comparison with healthy subjects, and miR-144 expression levels in the tissue samples and serum were positively correlated. Furthermore, miR-144 levels in the serum of RB patients sensitively distinguished RB patients from healthy controls. CONCLUSIONS: miR-144 expression was downregulated in serum and tissue samples of RB patients and may function as a diagnostic and prognostic marker for RB.

Retinoblastoma: atualização sobre avaliação diagnóstica e tratamento / Retinoblastoma: diagnostic evaluation and treatment update

Introdução: O retinoblastoma corresponde a 15% de todos os tumores que ocorrem no primeiro ano de vida. Avaliações oftalmológicas periódicas desde o nascimento até a primeira infância fazem parte do rastreamento proposto para a neoplasia. Quando diagnosticado no início de seu desenvolvimento, apresenta grandes chances de cura. Métodos: Revisão de literatura referente à fisiopatologia, epidemiologia, características clínicas, diagnóstico, tratamento e prognóstico de retinoblastoma, por meio de pesquisa no PubMed, de artigos publicados durante os últimos sete anos. Resultados: Desde 2003, a Classificação Internacional do Retinoblastoma vem sendo considerada a mais atualizada e lógica para estabelecer o estadiamento do tumor, pois consegue correlacionar-se com a estratégia terapêutica. O tratamento do retinoblastoma evoluiu muito. Observa-se grande avanço da quimioterapia. A radioterapia externa, por muito tempo considerada primeira linha, já não é mais usada, especialmente pelo risco de favorecer o surgimento de outras neoplasias nos pacientes com mutação germinativa no gene RB1. Conclusão: O retinoblastoma, apesar de considerado neoplasia rara, corresponde a parcela importante dos tumores da infância, especialmente nos primeiros anos de vida, e pode ser fatal se não for corretamente diagnosticado e manejado. A avaliação diagnóstica, classificação e o tratamento do tumor evoluíram muito nos últimos anos. Destaca-se, nesse cenário, o aprimoramento das técnicas de quimioterapia (intra-artéria oftálmica, intravítreo e sistêmica) e o avanço nos estudos em relação aos danos associados a radioterapia externa, que no momento apresenta indicações restritas. A necessidade de realizar rastreamento na infância segue sendo a melhor forma de diagnosticar alterações caraterísticas da neoplasia precocemente. Com diagnóstico precoce e tratamento correto, o prognóstico de melhora e a sobrevida pode ser superior a 90%.

Introduction: Retinoblastoma accounts for 15% of tumors that occur in the first year of life. Periodic ophthalmic examinations from birth to early childhood are considered a screening for neoplasia. When retinoblastoma is diagnosed early in its development, it presents great chances of cure. Methods: Review of literature on pathophysiology, epidemiology, clinical aspects, diagnosis, treatment and prognosis of retinoblastoma, through PubMed research, of articles published during the last seven years. Results: Since 2003, an International Classification of Retinoblastoma has been more rigorously applied to establish tumor staging, since it is possible to correlate it with a therapeutic strategy. Treatment of retinoblastoma has greatly improved. A great advance of chemotherapy is observed. External radiotherapy, for example, is no longer used, especially because of the risk of other cancers arising in patients with germline mutation in the RB1 gene. Conclusion: Although it is a rare neoplasia, retinoblastoma represents an important percentage of the cancers in childhood, especially in the first years of life. It is fatal if not well diagnosed and treated. A diagnostic evaluation, classification and treatment of the tumor has evolved a lot in the past few years. In this scenario, the improvement of chemotherapy techniques (intra-arterial technique, intravitreal and systemic) is highlighted. Furthermore, new studies have shown the damage associated with external radiotherapy, which at the moment has restricted indications. The need for screening in childhood is the key to early diagnose. With early diagnosis and correct treatment, prognosis of survival improves and may exceed 90%.

Systematic review of the current status of programs and general knowledge of diagnosis and management of retinoblastoma / Revisión sistemática del estado actual de los programas y conocimiento general de la diagnosis y manejo de retinoblastoma

Abstract: Background: This systematic review aims to report the current knowledge of retinoblastoma (Rb) and its implications in Mexico. We analyzed clinical and demographic data of patients with Rb at select hospitals with Rb programs or that treat and refer patients with Rb, and identified the gaps in practice. We propose solutions to improve diagnosis, provide adequate treatment, and improve patient uptake. Methods: A general review was conducted on PubMed of peer-reviewed literature on Rb in Mexico. Ophthalmology Department Heads or Directors of Rb programs at seven hospitals in Mexico were contacted for data available on their patients with Rb. Results: Five hospitals provided clinical data on 777 patients with Rb in a period spanning 2000-2015. Of the 122 patients with treatment, 83.4% underwent enucleation. From 33 to 45.3% of Rb tumors in Mexico reach an advanced intraocular stage of development. Knowledge of the disease is limited, despite the fact that the Mexican Retinoblastoma Group has elaborated Rb treatment guidelines and is developing a national Rb registry. Especially in the Southern states, prevalence and outcomes are comparable to African and Asian countries, and only few patients are referred to national treatment centers. Only three institutions have comprehensive Rb programs. Conclusions: There is an immediate need in Mexico to expand primary care providers' knowledge of Rb and to expand and upgrade current Rb programs to meet the needs of the population adequately. Diagnosis and care of Rb patients in Mexico can also be improved by the establishment of a national Rb registry and a national early detection program, and by increased use of the national treatment protocol.

Resumen: Introducción: Esta es una revisión sistemática de los conocimientos actuales del retinoblastoma (Rb) y sus implicaciones en los centros de referencia más importantes del país. Se presenta un análisis situacional de los programas de Rb en México, se identificaron las brechas en la práctica, y se proponen soluciones para mejorar el diagnóstico, tratamiento y referencia oportuna de pacientes. Métodos: Se realizó una revisión general de la literatura publicada sobre Rb en México a través de PubMed. Los datos sociodemográficos de pacientes con Rb fueron obtenidos a través de los directores de programas de retinoblastoma en siete hospitales. Resultados: Casi una tercera parte de los casos Rb se diagnostican en estadios avanzados. A pesar de la existencia del Grupo Mexicano de Retinoblastoma, el conocimiento de esta patología entre los médicos es limitado. Las diferencias en el tratamiento son notorias en el sur del país, donde la prevalencia y los resultados son comparables con África y Asia. Solamente tres instituciones a nivel nacional tienen un programa establecido de Rb. Conclusiones: Existe la necesidad inmediata de consolidar los programas de Rb para cubrir las necesidades reales de la población. Se requiere mejorar la educación del médico de primer contacto, establecer el registro nacional de casos y el programa de detección temprana, establecer los programas de salvamento ocular nacional, y reforzar las instituciones que brindan tratamiento.

Aislamiento y caracterización celular de exosomas de plasma para su uso como biomarcadores de diagnóstico / Isolation and cellular characterization of exosomes from plasma for their use as diagnostic biomarkers / Purificação e caracterização celular de exossomos para seu uso como biomarcadores de diagnóstico

Los exosomas son vesículas membranosas extracelulares esenciales en la comunicación intercelular a larga distancia, viajan en los fluidos corporales y entregan mensajes moleculares dirigidos a la mayoría de las células de todo el organismo. La liberación de mensajes vía exosomas ocurre en forma de ADN, ARN o proteínas; dicha liberación se ha asociado a diferentes condiciones fisiológicas normales y patológicas, como el cáncer. Por lo anterior, el aislamiento eficiente y caracterización celular de exosomas de plasma es clave para su uso como biomarcadores no invasivos de diversas enfermedades. En el presente estudio se purificaron exosomas a partir de muestras clínicas de plasmas de pacientes previamente diagnosticados con retinoblastoma y de individuos sanos como control. Los exosomas recuperados fueron caracterizados a nivel celular por microscopia electrónica de transmisión empleando una técnica de criogenia. Para demostrar la correcta purificación de exosomas se confirmó la presencia de las proteínas transmembranales CD63 y CD81 mediante immunoblot. Adicionalmente de los exosomas purificados, se identificaron ARNs pequeños no codificantes llamados microARNs. En general, se describe la purificación y caracterización celular de exosomas obtenidos de plasma humano para su potencial uso como biomarcadores.

Exosomes are small extracellular vesicles essential in intercellular communication; they act as vehicles of broad scope. They are travelling in body fluids and delivering molecular messages to cells in the organism. Messages released by exosomes like DNA, RNA and proteins are associated with different pathological conditions including cancer. Therefore, the efficient isolation and cellular characterization of exosomes from plasma is essential to use them as biomarkers in many diseases. Here, exosomes were purified from patients diagnosed with pediatric cancer and healthy individuals as control. The exosomes recovered were characterized using cryogenic transmission electron microscopy. Moreover, the presence of CD63 and CD81 transmembrane proteins was confirmed using Western blot. Besides, miRNAs presence was identified from exosomes. This work describes a complete technique to isolate and characterize exosomes from human plasma, recognizing their potential as biomarkers.

Os exossomos são vesículas membranosas extracelulares essenciais na comunicação intercelular de longa distância; eles viajam em fluidos corporais e entregam mensagens moleculares dirigidas à maioria das células de todo o organismo. A liberação de mensagens através dos exossomos ocorre em forma de DNA, RNA ou proteínas; essa liberação foi associada a diferentes condições fisiológicas normais e patológicas, tais como o câncer. Por tudo isso, o eficiente isolamento e caracterização celular de exossomos de plasma é chave para sua utilização como biomarcadores não invasivos de várias doenças. No presente estudo, exossomos foram purificados a partir de amostras clínicas de plasmas de pacientes que tinham sido diagnosticados previamente com retinoblastoma e de indivíduos saudáveis como controle. Os exossomos recuperados foram caracterizados a nível celular por microscopia eletrônica de transmissão usando uma técnica de criogenia. Para demonstrar a correta purificação dos exossomos, foi confirmada a presença de proteínas transmembranares CD63 e CD81 usando inmunoblot. Além dos exossomos purificados foram identificados ARNs não codificantes pequenos chamados microARNs. Em geral os métodos de purificação e caracterização celular de exossomos obtidos de plasma humano são descritos por seu potencial utilização como biomarcadores.

Tomografia de coerência óptica na avaliação do retinoblastoma macular / Optical coherence tomography in the evaluation of macular retinoblastoma

O retinoblastoma é conhecido como o mais comum dos tumores intraoculares na infância. Além dos métodos convencionais de diagnóstico, podemos acrescentar a tomografia de coerência óptica (OCT) como um instrumento relevante na avaliação seletiva do comprometimento retiniano, dos tumores pequenos e médios do polo posterior. Os autores apresentam dois casos de retinoblastoma nos quais a OCT pode demonstrar as características morfológicas do tumor ao diagnóstico e as modificações estruturais do tecido tumoral e da retina adjacente, que ocorreram, em cada caso, após distintas modalidades de tratamento.

The retinoblastoma is known as the most common intraocular malignancy of the childhood. In addition to other diagnostic methods the optical coherence Tomography (OCT) may be considered an important tool in the evaluation of selective involvement of the retina by small and medium sized tumors at the posterior pole of the eye. The authors present two cases of retinoblastoma in which the OCT was able to demonstrate the morphological features of the tumor at diagnosis and the structural changes in tumor tissue and in adjacent retina that occurred, in each case, after different modalities of treatment.

Trilateral retinoblastoma with unilateral eye involvement / Retinoblastoma trilateral com acometimento ocular universal

SummaryRetinoblastomas (RB) are the main forms of intraocular tumor in childhood, with a worldwide incidence of 1 case per 15,000 to 20,000 live births. Trilateral RB (RBT) is a rare combination of unilateral or bilateral RB with a midline intracranial neoplasm of neuroblastic origin, usually found in the pineal region or the suprasellar region, presenting variable incidence of 0.5% up to 6% among patients with RB. The article reports a case of unilateral RBT in a patient treated at Hospital A.C.Camargo.

ResumoO retinoblastoma (RB) é a principal forma de tumor intraocular na infância, apresentando uma incidência mundial de 1 caso em cada 15 mil a 20 mil nascidos vivos. O RB trilateral (RBT) é uma rara combinação de RB unilateral ou bilateral com uma neoplasia da linha média intracraniana de origem neuroblástica, geralmente na região da glândula pineal ou na região suprasselar, apresentando incidência variável de 0,5 a 6% entre pacientes com RB. O artigo relata o caso de uma paciente com RBT com acometimento unilateral atendida no Hospital A.C.Camargo.

Extension ethmoido-maxillaire d'un retinoblastome congenital: à propos d'un cas

Introduction: Le retinoblastome est une tumeur rare; sa prevalence est estimee a 0.82 avant 15 ans. Sa forme congenitale est exceptionnelle. Le but de cette presentation est de decrire l'extension ethmoido-maxillaire d'un retinoblastome congenital. Methodes: Un nouveau ne a ete adresse a une heure de vie dans notre departement pour une protrusion de l'oil droit. L'echographie obstetricale avait conclu a une morphologie fotale normale. Resultats: Une exorbitation droite; le scanner montrait une tumeur du nerf optique avec une volumineuse extension orbitaire; une lyse complete du plancher de l'orbite homolateral avec un envahissement quasi-total du sinus maxillaire et des cellules ethmoidales. Le deces etait survenu au 3eme jour d'hospitalisation. Conclusion: Le retinoblastome congenital est un def surtout dans les pays pauvres pour deux raisons; le diagnostic antenatal et le traitement

Diagnóstico y tratamiento de retinoblastoma / Diagnosis and treatment of retinoblastoma

El retinoblastoma es el tumor maligno más frecuente en la infancia, sin embargo sigue siendo un tumor raro en niños. Se asocia a una inactivación de ambos alelos del gen supresor tumoral. Pueden aparecer esporádicamente o pueden ser familiares y existen varios patrones de diseminación tumoral que pueden variar el pronóstico tanto visual como del globo ocular. El signo más frecuente es la leucocoria seguido por estrabismo, con una edad promedio de presentación a los 2 años en casos unilaterales y durante del primer año de vida en los tumores bilaterales. La detección temprana y tratamiento adecuado permite una mayor sobrevida en el niño.

Retinoblastoma is the most common malignant tumor in childhood; however it is ar are tumor in children. It is associated with inactivation of both alleles of the tumor suppressor gene. It may occur sporadically or may be family related; there are various patterns of tumor dissemination that can vary the visual and eye prognosis. The most common sign is leukocoria followed by strabismus, with an average age of onset at 2 years in unilateral cases and during the first year of life in bilateral tumors. Early detection and appropriate treatment can prolong survival in children.

Consideraciones clínicas, diagnósticas y de tratamiento en retinoblastoma / Clinical, diagnostic and therapeutic considerations in retinoblastoma

El retinoblastoma es el tumor intraocular primari o más frecuente en l a infancia. Su detección temprana y el inici o del tratamiento adecuado permi te mejorar dramáticamente l a sobrevida en estos niños. En este artícul o se hace una revisión general de l a enfermedad. Se empleó PubMed y se revisaron artículos representativos del tema, que permi tieran dar una idea general de los di ferentes avances alcanzados. Dada su cl ínica característica, el médico de atención primaria, es pieza fundamental en l a captación inicial del paciente. [Vi l lami l JF , Quintero LM, Serrano RA, Moreno IA. Consideraciones cl ínicas, diagnósticas y de tratamiento en retinoblastoma. MedUNAB 201 1; 14:180-187].

Retinoblastoma is the most common primary intraocular tumor in childhood. Its early detection and initiation of appropriate therapy , can dramatically improve the life expectancy in these children. This article is a general review of the disease. PubMed was employed and representative articles about the topic were selected in order to given us a general idea about the advances achieved. Due to clinical features, primary care physician is a fundamental part in the initial catchment of patient. [Villamil JF , Quintero LM, Serrano RA, Moreno IA. Clinical, diagnostic and therapeutic considerations in retinoblastoma. MedUNAB 2011; 14:180-187].

Retinoblastoma in patients with regressed retinopathy of prematurity.

Retinopathy of prematurity (ROP) is a well-known clinical entity in premature babies. We report two patients (1 and 2) with regressed ROP who later presented with retinoblastoma (RB). To the best of our knowledge, there is only one such report in the literature so far. Two unrelated patients 1 and 2, born at 32 weeks gestation were screened for ROP at 34 weeks gestation. This showed Zone II Stage II ROP which regressed by 38 weeks of gestation on follow-up. Both patients were lost to follow-up by 40 weeks of gestation. They presented at four years of age with white reflex in the eye. Patient 1 was found to have unilateral and patient 2 bilateral RB. The occurrence of RB in these patients with regressed ROP is probably coincidental.

Clinical presentation and staging of newly diagnosed intraocular retinoblastoma according to international classification of retinoblastoma

To report the clinical presentation and stage of the disease in newly diagnosed retinoblastoma cases at Al-Shifa Trust Eye Hospital Rawalpindi according to International Classification of Retinoblastoma. A hospital based prospective descriptive study. Clinical data of presentation and staging of cases diagnosed with primary retinoblastoma from January 2009 to June 2011 was collected. All patients underwent an examination under anaesthesia including fundus examination by indirect ophthalmoscopy with 360 degrees indentation, ultrasound and RetCam photographs to document the location and size of the tumours, the presence and extent of vitreous and subretinal seedings and subretinal fluid. An oncologist performed the metastatic workup. All the eyes were then classified according to the Reese-Ellsworth classification and International classification of retinoblastoma [IIRC]. Treatment methods included chemoreduction, focal therapy [transpupillary thermotherapy and cryotherapy], enucleation and exenteration in rare cases with extra ocular extension. 72 eyes of 51 patients with primary retinoblastoma were diagnosed during this period. Thirty patients [58.8%] had unilateral retinoblastoma and 21 patients [41.2%] had bilateral retinoblastoma. Thirty four [66.6%] patients presented with leukocoria. The disease in 32 [62.74%] patients was classified in group E. Majority of the patients presented with advanced disease manifesting as leukocoria and were staged in group E

rare case of adult onset retinoblastoma

Retinoblastoma usually manifests before five years of age. Retinoblastoma in an adult is extremely rare. Twenty-three cases of retinoblastoma in adults 20 years or older have been reported in world literature. We report a case of adult onset retinoblastoma in a 29-year-old female. Our patient had unilateral endophytic retinoblastoma with vitreous seeds and calcification on ultrasonography. She underwent enucleation with silicone ball implantation and the diagnosis was confirmed histopathologically. The diagnosis of retinoblastoma should be kept in mind in cases presenting with a white mass lesion of unknown etiology, in the fundus of an adult

Le traitement du rétinoblastome au CHU de Brazzaville

La pathologie cancéreuse de l'enfant représente 7%, d'après les données du registre des cancers de Brazzaville(RCB). Une étude rétrospective a été menée, allant du 1er Janvier 2000 au 31 Décembre 2008. Nous avons ainsi rassemblé 292 cas des cancers observés chez l'enfant de 0 à 14 ans, dont 74 cas de rétinoblastome soit une fréquence 25,3%. Cette localisation occupe ainsi la première place des cancers solides de l'enfant. Nous n'avons pas observé de différences dans les deux sexes. L'âge moyen au moment du diagnostic était de 4,29 ans. Le diagnostic était clinique dans 58,5% (43 cas), à l'examen du fond d'œil 21,6% (16 cas),à l'échographie 16,2%(12 cas), et la confirmation anatomie pathologie 4 % (3 cas). La localisation était unilatérale 83,7% (62 cas), bilatérale dans 8,1% (6 cas) non précisée dans 9,5 % (7 cas). La chimiothérapie était utilisée dans 61,8% (45 cas), l'énucléation dans 13,5% (10 cas), chimiothérapie associée à l'énucléation 10,8% (8 cas), et non précisée 14,9% (11 cas). La moyenne de survie était de 4,65 mois avec des extrêmes de 1 à 9 mois en raison du retard de diagnostic et des difficultés d'accès au traitement

Descripción del caso presentado en el número anterior: Retinoblastoma / Previous issue clinical case presentation: Retinoblastoma

Niña de 7 meses, previamente sana, traída a la consulta por leucocoria de 2 meses de evolución.La paciente no presenta dolor ocular ni síntomas concomitantes. Al examen oftalmológico se constata ausencia de fijación y esotropia del ojo derechocon ausencia de reflejo rojo.

Retinoblastoma en Guatemala: diagnóstico temprano salva vidas / Retinoblastoma in Guatemala: early diagnosis saves lives

El retinoblastoma es el más común cáncer ocular de la niñez. El sitio primario es la retina y que se desarrolla en los primeros 6 años de vida. Su incidencia mundial es 1 en 18,000 niños menores de 5 años en EEUU (1) (2-4). Además, la literatura sugiere que hispanos tienen una incidencia más alta que otras razas (5-6). En EEUU se diagnostican alrededor de 300 casos al año. En Guatemala, la Unidad Nacional de Oncología Pediátrica diagnostica 27-30 casos anuales; y pone al retinoblastoma como tercer cáncer de la niñez, después de leucemias y linfomas (Datos UNOP, 2010)...

Presentation of retinoblastoma in pregnancy.

A 22-year-old female in her third trimester of pregnancy was referred to our department for sudden loss of vision with a painful blind eye. It was diagnosed as retinoblastoma clinically and radiologically. Histopathology and immunohistochemistry confirmed the diagnosis. This case is one of its kind because retinoblastoma occurring during pregnancy had not been reported in literature so far.