How we approach conservative treatment of retinoblastoma in South America in the era of local ocular treatments: A consensus of the Grupo America Latina de Oncologia Pediatrica (GALOP).

Local therapies are increasingly used for ocular preservation in retinoblastoma. In middle-income countries, these techniques pose specific challenges mostly related to more advanced disease at diagnosis. The Grupo de America Latina de Oncología Pediátrica (GALOP) developed a consensus document for the management of conservative therapy for retinoblastoma. Intra-arterial chemotherapy (OAC) is the preferred therapy, except for those with less advanced disease or age younger than 6 months. OAC allowed for a reduction in the use of external beam radiotherapy in our setting. Intravitreal chemotherapy is the preferred treatment for vitreous seeding. Enucleation is the treatment of choice for eyes with advanced disease.

Genetic testing for inherited ocular conditions in a developing country.

Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing. Included probands were classified into a diagnostic clinical category and offered genetic testing. Blood samples were sent to foreign accredited diagnostic laboratories, followed by clinical interpretation of the results.Results: Of the 163 patients referred, 104 were enrolled in the study. Median age at disease onset was 2 years (range, 0 to 43 years). A molecular diagnosis was established at a median age of 10 years (range, 0.4 to 50 years). Disease-causing genotypes were identified in 82 of the probands, indicating a mutation detection rate of 78.8%. Mutations were identified in 38 genes, ABCA4 being the most commonly affected (23% of mutations), followed by CRB1 (13% of mutations). Whole-exome sequencing was performed in 6 patients, resulting in a definite diagnosis in 3 (50%).Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity.

A national telemedicine network for retinopathy of prematurity screening.

PURPOSE: To report the results of retinopathy of prematurity (ROP) screening by a telemedicine system in Chile and evaluate its usefulness for referring patients who require treatment. METHODS: Premature infants at risk of developing ROP from 11 neonatal intensive care units were included. Screening was performed on all infants born at a gestational age of <32 weeks and/or birth weight of <1500 g. A trained nonphysician operator used an imaging system to capture retinal images, which were reviewed by two independent ROP experts. All infants that required treatment were referred for further evaluation. RESULTS: The study included 2,048 eyes of 1,024 premature infants. Mean gestational age was 28.8 ± 2.2 weeks, and mean birth weight was 1128 ± 279 g. A total of 5,263 telemedicine examinations were performed and reported. The average number of image sets per patient was 2.6 ± 2.5. Of the 5,263 images, 4,903 (93%) were recorded to at least the end of zone II; 5,172 (98%) were graded as having good quality, allowing for staging of ROP disease. Forty-two infants (4%) were referred for treatment. Discharged patients with ROP type 2 that regressed did not present with any complications or adverse effects during 6 months' follow-up. CONCLUSIONS: Our study demonstrates the utility of telemedicine screening for ROP with ophthalmologist readers in a developing country. Telemedicine screening was able to detect treatment-requiring ROP. Most of the images had good quality and showed the end of zone II, two variables sufficient to discharge patients.

Percepción de usuarios de servicios de salud sobre la visibilidad social de los profesionales de enfermería durante la pandemia de COVID-19

Objetivo: Conocer la percepción de usuarios de los servicios de salud de tres comunas de Chile sobre la visibilidad social de los profesionales de enfermería durante el período de la pandemia de COVID-19. Material y Método: Estudio cualitativo descriptivo que utilizó la técnica del grupo focal. Se realizó un grupo focal con un muestreo de tipo intencionado conformado por siete participantes cuyos criterios de inclusión fueron ser usuarios del sistema de salud de Chile y mayor de 18 años. El reclutamiento de los participantes fue realizado por un afiche en redes sociales de la institución académica. La estrategia de análisis fue el de contenido. Resultados: Se encontraron tres temas y siete subtemas: la visibilidad de la profesión (imaginarios sociales, valoración de la labor, invisibilidad), primera línea (revaloración de los profesionales, seguridad y confianza) y género (profesión feminizada, invisibilidad). Conclusiones: Bajo el actual contexto de salubridad, la visibilidad de la enfermería se ha sostenido por situaciones que justamente son asociadas a la invisibilidad, salud mental, cargas laborales, cuestiones de género, entre otras. Se sugiere la realización de investigaciones que demuestren y difundan el importante rol de los profesionales de enfermería en la sociedad y promuevan su reconocimiento.

Objetivo: Conhecer a percepção de usuários dos serviços de saúde de três municípios do Chile sobre a visibilidade social dos profissionais de enfermagem durante o período da Pandemia da COVID-19. Material e Método: Estudo qualitativo descritivo que utilizou a técnica de grupo focal. Foi realizado um grupo focal com uma amostragem do tipo intencional, composta por sete participantes, cujos critérios de inclusão foram ser usuários do Sistema de Saúde do Chile e maiores de 18 anos. O recrutamento dos participantes foi realizado por um poster nas redes sociais da instituição acadêmica. A estratégia de análise foi de conteúdo. Resultados: Foram encontrados três temas e sete subtemas: a visibilidade da profissão (imaginários sociais, valorização do trabalho, invisibilidade), primeira linha (reavaliação dos profissionais, segurança e confiança) e gênero (profissão feminizada, invisibilidade). Conclusões: No contexto atual da saúde, a visibilidade da enfermagem tem sido sustentada por situações que se associam justamente à invisibilidade, saúde mental, carga de trabalho, questões de gênero, entre outras. Sugere-se a realização de pesquisas que demonstrem e divulguem o importante papel dos profissionais de enfermagem na sociedade e promovam seu reconhecimento.

Objective: To know the perception of users of health services in three communes of Chile regarding the social visibility of nursing professionals during the period of the COVID-19 Pandemic. Material and Method: Qualitative study with a descriptive design that used the focus group technique. A focus group was carried out with an intentional sampling, made up of seven participants whose inclusion criteria were: being users of the Chilean Health System and, older than 18 years. The recruitment of the participants was conducted by a poster in social networks of the academic institution. The analysis strategy was content. Results: Three themes and seven sub-themes were found. The themes were, the visibility of the profession (social imaginaries, value of work, invisibility), first line (revaluation of professionals, safety, and trust) and gender (feminized profession, invisibility). Conclusions: Under the current context of health, the visibility of nursing has been sustained by situations that are precisely associated with invisibility, mental health, workload, gender issues, among others. It is suggested that research be conducted to demonstrate and disseminate the significant role of nursing professionals in society and promote their recognition.

Treatment of Nonmetastatic Unilateral Retinoblastoma in Children.

Importance: Multi-institutional collaborative studies that include large patient populations for the management of retinoblastoma with histopathological risk factors could provide important information for patient management. Objective: To evaluate the implementation of a strategy for the management of nonmetastatic unilateral retinoblastoma in children based on standardized diagnostic and treatment criteria. Design, Setting, and Participants: This single-arm prospective study applied a strategy based on a single-center experience. The setting was a multicenter study in Latin America (Grupo de America Latina de Oncologia Pediatrica [GALOP]). Participants were children with nonmetastatic unilateral retinoblastoma (staged with the International Retinoblastoma Staging System). The study opened on July 1, 2008, and closed on December 31, 2014. Follow-up was updated until June 30, 2017. Interventions: Stage 0 patients (without enucleation) were given conservative therapy without a protocol. Stage I patients (with enucleation and no residual tumor) were divided into a high-risk group (retrolaminar invasion and/or scleral invasion) and a low-risk group (all remaining patients). High-risk children received adjuvant chemotherapy with 4 alternating cycles of regimen 1 (cyclophosphamide [65 mg/kg/d] [plus sodium-2-mercaptoethane sulfonate], idarubicin hydrochloride [10 mg/m2/d], and vincristine sulfate [0.05 mg/kg/d]) and 4 cycles of regimen 2 (carboplatin [500 mg/m2/d, days 1 and 2] and etoposide [100 mg/m2/d, days 1-3]). Low-risk children did not receive adjuvant therapy. Children with buphthalmia received neoadjuvant and adjuvant chemotherapy for a total of 8 cycles. Main Outcomes and Measures: Probability of event-free survival (extraocular relapse and death from any cause were considered events). Results: Among 187 children registered in the study, 175 were evaluable (92 [52.5%] female; median age, 22 months; age range, 3-100 months). Forty-two were stage 0 children, 84 were stage I low-risk children, and 42 were stage I high-risk children; there were 7 children in the buphthalmia group. With a median follow-up of 46 months, the 3-year probability of event-free survival was 0.97 (95% CI, 0.94-0.99), and the probability of overall survival was 0.98 (95% CI, 0.94-1.00). Stage 0 patients had no events, stage I low-risk patients had 1 event (orbital relapse treated with second-line therapy), stage I high-risk patients had 2 events (1 central nervous system relapse and 1 death from sepsis), and the buphthalmia group had 1 event (orbital relapse, followed by central nervous relapse and death). Conclusions and Relevance: Adjuvant therapy may be effective for high-risk unilateral retinoblastoma but is toxic, and neoadjuvant chemotherapy for buphthalmus appears feasible.

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.

We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved. The patient has been in remission for 18 months.

Using cost-effective intra-arterial chemotherapy to treat retinoblastoma in Chile.

Intra-arterial chemotherapy (IAC) has proved to be an effective treatment for retinoblastoma, but can be very expensive in developing countries. We report 2 patients from Chile in whom IAC resulted in globe salvation. Both patients had their medical care provided by the public health system and had failed standard therapy.

Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis.

Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.

Producción de radicales libres y capacidad antioxidante en cogajo microvascular / Production of free radicals and antioxidant capacity in microvascular flap

Los radicales libres son moléculas producidas en procesos fisiológicos del ser humano. En ciertos procesos como la isquemia, su producción puede sobrepasar la capacidad del organismo de neutralizarlas destruyendo células y tejidos: el conocido estrés oxidativo. Se realiz¢ un estudio clínico de isquemia y reperfusión. Se utilizó un cogajo libre musculocutáneo rectoabdominal como autotransplante durante la cirugía reconstructora de mama. Se cuantificó indirectamente la producción de radicales libres generados en el colgajo microvascular así como la capacidad antioxidante del plasma (CAOX). Las determinaciones fueron comparadas en dos pacientes sometidas a reconstrucción mamaria, utilizando muestras sanguíneas procedentes exclusivamente del tejido isquémico transplantado y reperfundido por microanastomosis. La cuantificación de la producción de radicales libres y CAOX se efectu¢ por medio de un método de captación luminiscente. Los resultados demuestran que post isquemia fría de dos horas e iniciadas la revasculación, existe un aumento de radicales libres de 48 veces, así como la caída en la cantidad de CAOX de un 20 por ciento. Creemos que el autotransplante de tejidos por microcirugía es un excelente modelo clínico para estudiar la magnitud del da¤o por radicales libres post reperfusión. A través de la cuantificación de radicales libres y la CAOX, obtenemos marcadores indirectos de estrés oxidativo que podrían ayudar en el dignóstico etiológico del rechazo de transplante. Esta información es relevante para una posible intervención futura, como es la suplementación con medicamentos atioxidantes para disminuir el índice de stress oxidativo tisular y por ende el rechazo del transplante

Manejo del estrabismo en el alto miope / Management of strabismus in high myopia

Se analiza un grupo de 12 personas con estrabismo asociado a alta miopía, en términos de su presentación clínica, cirugía realizada y sus resultados. En 7 de éstos pacientes se realizó un tipo de unión entre los músculos rectos superior y lateral (técnica de Yokohama), pero se consideraron diferentes enfoques quirúrgicos sobre el recto medio. Se obtuvieron buenos resultados en la mayoría de los casos, observándose solamente 2 casos que requirieron reoperación.

A group of 12 patients with strabismus associated to high myopia is analyzed in terms of clinical presentation, surgery performed and its results. In 7 of these patients a type of muscular union between superior and lateral rectus (Yokoyama's technique) was done, but different approaches to the medial rectus were considered. Good results were obtained in most cases with only 2 patients requiring reoperations.

Estrabismo en orbitopatía / Strabismus in orbitopathy

Introducción: la fibrosis y contractura muscular determina la aparición de un estrabismo restrictivo. Objetivo: describir aspectos clínicos-radiológicos y resultados quirúrgicos en una serie de pacientes. Materiales y métodos: estudio retrospectivo de 22 pacientes operados en 2 centros clínicos entre 1990 y 2005 con tabulación de datos clínicos, mediciones en 9 posiciones, ducciones, resultados quirúrgicos y complicaciones. Además análisis doble-ciego clínico radiológico. Resultados: mayor prevalencia en mujeres (88 por ciento), (x) edad 57 años, síntoma inicial diplopia (100 por ciento). Compromiso muscular RI (72 por ciento), RM (63 por ciento), RS (22 por ciento), RL (9 por ciento). Grupos más frecuentes: RM bilateral (18.2 por ciento) y RI unilateral (16 por ciento). Resultado postoperatorio excelente (sin diplopia) 75 por ciento, satisfactorio (sin diplopia con prismas) 23 por ciento y malo (diplopia permanente) 2 por ciento. Correlación clínico-radiológica exacta (45 por ciento) y del principal músculo afectado (100 por ciento. Complicaciones: 33 por ciento ptosis palpebral inferior y 9.5 por ciento neuropatía óptica compresiva. Conclusión: el manejo estrabológico adecuado en orbitopatía de graves otorga en un alto porcentaje una mejoría de sus síntomas y mejor calidad de vida.

Introduction: fibrosis and muscular contracture results in restrictive strabismus. Objective: describe clinical-radiological features and surgery results in a group of patients. Methodology: retrospective study of 22 surgical patients treated in 2 ophthalmology institutes between 1990 and 2005. Ciinical data, 9 positions and duction study, surgical results and finally incidence of complications were all assesed. Also a double-blind clinical-radiological correlation was performed. Results: female were more affected (88 percent), mean age 57 years, initial sympton was diplopia en every case. Muscle involvement IR (72 percent), MR (63 percent), SR (22 percent), LR (9 percent). Most frequently muscle associations: both MRs (18.2 percent) and unilateral IR (16 percent). Postoperative results: excellent (diplopia free) 75 percent, satisfactory (diplopia corrected with prisms) 23 percent, bad (persistent diplopia) 2 percent. Exact clinical-radiological correlation (45 percent), mayor affected muscles correlation (100 percent). Complications: inferior palpebral ptosis (33 percent) and comprenssive optic neuropathy. Conclusions: adequate strabismus management in graves orbithopathy gives the patient symptomatic relief and better life quality in a high percentage of cases.