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.

[Alport syndrome. Report of two cases]. / Repercusiones oculares del Síndrome de Alport: A propósito de dos casos.

Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted for long-term loss of visual acuity. One had auditory abnormalities. On the ophthalmological examination, both had anterior lenticonus and one had dot or fleck retinopathy. Those findings are described in up to 50% and 70% of men with X-linked Alport syndrome, respectively. Both patients had a family history of Alport syndrome or suggestive signs and symptoms.

Repercusiones oculares del Síndrome de Alport: A propósito de dos casos / Alport syndrome. Report of two cases

Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted for long-term loss of visual acuity. One had auditory abnormalities. On the ophthalmological examination, both had anterior lenticonus and one had dot or fleck retinopathy. Those findings are described in up to 50% and 70% of men with X-linked Alport syndrome, respectively. Both patients had a family history of Alport syndrome or suggestive signs and symptoms.

Preoperative intravitreal bevacizumab for proliferative diabetic retinopathy patients undergoing vitrectomy - First update. / Efecto del uso preoperatorio de bevacizumab intravítreo en pacientes con retinopatía diabética proliferativa sometidos a vitrectomía- Primera actualización.

UPDATE: This Living FRISBEE (Living FRIendly Summary of the Body of Evidence using Epistemonikos) is an update of the summary published in December 2014. INTRODUCTION: Proliferative diabetic retinopathy can cause severe vision loss and even blindness if left untreated. Vitrectomy is often required in the treatment of more severe cases. Preoperative administration of bevacizumab, a humanized anti-vascular endothelial growth factor would improve intraoperative variables that facilitate surgery and improve postoperative course. METHODS: We searched in Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We extracted data from the systematic reviews, reanalyzed data of primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. RESULTS AND CONCLUSIONS: We identified five systematic reviews including 16 studies overall, of which 14 were randomized trials. We concluded the preoperative use of intravitreal bevacizumab reduces the rate of vitreous hemorrhage in the early postoperative period, and probably also in the late postoperative period, but its effect on visual acuity is not clear. Furthermore, it probably decreases the surgical time and may decrease the incidence of iatrogenic retinal breaks. Although we are uncertain whether preoperative bevacizumab decreases intraoperative bleeding, it may reduce the need for endodiathermy.

ACTUALIZACIÓN: Este resumen Epistemonikos (Living FRISBEE: Living FRIendly Summary of the Body of Evidence using Epistemonikos) es una actualización del resumen publicado en diciembre de 2014. INTRODUCCIÓN: La retinopatía diabética proliferativa conlleva un alto riesgo de ceguera si no es tratada de manera oportuna. El tratamiento muchas veces incluye la vitrectomía. El uso preoperatorio de bevacizumab, un anti-factor de crecimiento endotelial vascular, podría mejorar variables intraoperatorias que facilitan la cirugía y mejorarían el curso postoperatorio. MÉTODOS: Realizamos una búsqueda en Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante el cribado de múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, analizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES: Identificamos cinco revisiones sistemáticas que en conjunto incluyeron 16 estudios primarios, de los cuales 14 corresponden a ensayos aleatorizados. Concluimos que el uso preoperatorio de bevacizumab disminuye la incidencia de hemorragia vítrea en el postoperatorio temprano y probablemente también en el postoperatorio tardío, pero no está claro su efecto sobre la agudeza visual. Además, probablemente disminuye el tiempo quirúrgico, podría disminuir la incidencia de roturas retinianas iatrogénicas, y si bien no está claro que disminuya la ocurrencia de sangrado intraoperatorio, podría disminuir la necesidad de uso de endodiatermia.

Volume-based characterization of postocclusion surge.

PURPOSE: To propose an alternative method to characterize postocclusion surge using a collapsible artificial anterior chamber to replace the currently used rigid anterior chamber model. SETTING: Fundación Oftamológica Los Andes, Santiago, Chile. METHODS: The distal end of a phacoemulsification handpiece was placed inside a compliant artificial anterior chamber. Digital recordings of chamber pressure, chamber volume, inflow, and outflow were performed during occlusion break of the phacoemulsification tip. The occlusion break profile of 2 different consoles was compared. RESULTS: Occlusion break while using a rigid anterior chamber model produced a simultaneous increase of chamber inflow and outflow. In the rigid chamber model, pressure decreased sharply, reaching negative pressure values. Alternatively, with the collapsible chamber model, a delay was observed in the inflow that occurs to compensate the outflow surge. Also, the chamber pressure drop was smaller in magnitude, never undershooting below atmospheric pressure into negative values. Using 500 mm Hg as vacuum limit, the Infiniti System (Alcon) performed better that the Legacy (Alcon), showing an 18% reduction in peak volume variation. CONCLUSIONS: The collapsible anterior chamber model provides a more realistic representation of the postocclusion surge events that occur in the real eye during cataract surgery. Peak volume fluctuation (mL), half volume recovery time(s), and volume fluctuation integral value (mL x s) are proposed as realistic indicators to characterize the postocclusion surge performance. These indicators show that the Infiniti System has a better postocclusion surge behavior than the Legacy System.

Clasificación morfológica del grado de madurez de los ovocitos recuperados en un programa de fecundación in vitro / Morphological classification of the stage of oocytes maturity recovered in a program of fertilization in vitro

Se describe el método de clasificación morfológica de la madurez de los ovocitos empleada en el Programa de Fecundación in Vitro de la Universidad de Virginia del Este, Norfolk. Se distinguen ovocitos inmaduros, en metafase uno, maduros, post-maduros atrésicos, y con zona fracturada, señalando las características de cada uno. Se enfatiza la importancia del estado nuclear del ovocito para determinar su madurez por encima del aspecto del complejo cúmulo-corona, tan empleado. Para este fin es fundamental contar con un microscopio invertido con gran aumento, resultando inadecuados los estereomicroscopios de disección

Hirsutismo secundario a hiperplasia suprarrenal congenita por deficit de 21 hidroxilasa de comienzo tardio.Caso clinico. / Hirsutism secondary to congenital adrenal hyperplasia due to deficiency of 21-hydroxylase of late onset. A clinical case

Se presenta un caso en que se pudo comprobar hirsutismo secundario a una hiperplasia suprarrenal por deficit de 21 hidroxilasa de comienzo tardio. El diagnostico se sospecho por los niveles moderadamente elevados de testosterona plasmatica, con elevacion importante de los 17 KS urinarios y DHEAS plasmatica. El diagnostico se confirmo al constatar una elevacion muy importante de los niveles basales de 17 OH progesterona, los cuales luego de supresion con dexametasona demonstraron un incremento muy llamativo frente a la estimulacion on ACTH. Se discuten la fisiopatologia de este cuadro y las bases terapeuticas. Se senalan tambien algunas caracteristicas geneticas del cuadro de reciente descripcion

Diagnostico de la ovulacion en tres ciclos mentruales consecutivos mediante ultrasonido de tiempo real. / Diagnosis of ovulation in 3 consecutive menstrual cycles by means of real time ultrasound

1. El desarrollo folicular fue estudiado mediante ultrasonido y determinaciones de LH y pregnandiol-3-glucuronido en nueve mujeres durante tres ciclos consecutivos, para observar el ambito de variacion individual del diametro de rotura folicular. Ademas, se correlacionaron las imagenes ecograficas con los parametros hormonales estudiados. 2. Se pudo determinar que solo un pequeno porcentaje (22,2%) de mujeres estudiadas presento ambitos de rotura folicular, que permitiria predecir su ovulacion con un error maximo de um dia Otro 22,2% tuvo variaciones que permitirian una prediccion de ovulacion con un erro maximo de dos dias. Las voluntarias restantes presentaron ambitos mayores. 3.Se observo una adecuada correlacion entre la determinacion de ovulacion mediante ultrasonido y LH urinaria por tardioinmunoensayo. El pregnandiol-3-glucuronido tuvo buena correlacion con las imagenes ecograficas, confirmando ovulacion en todas las pacientes presentadas. 4. Se observo una correlacion positiva entre el diametro de rotura folicular y la duracion de la fase proliferativa, y una correlacion negativa entre el diamentro de rotura folicular y la duracion de la fase lutea. 5.Se concluye que la vigilancia ecografica del desarrollo y rotura folicular en ciclos consecutivos demuestra que solo un pequeno porcentaje de mujeres presenta diametros de rotura folicular relativamente constantes