Evaluación neuropsicológica de un adulto colombiano diagnosticado con Síndrome de Morquio B / Neuropsychological assessment of a Colombian adult diagnosed with Morquio B Syndrome

Resumen El síndrome de Morquio B es una enfermedad rara y de baja prevalencia, por lo cual poco se ha estudiado sobre el funcionamiento neuropsicológico y estado cognitivo de quienes lo padecen. Este estudio de caso presenta los resultados del funcionamiento en atención, memoria, lenguaje, gnosias, praxias y funciones ejecutivas de un adulto colombiano diagnosticado con este síndrome. Se encontró que el paciente puede adquirir nuevo conocimiento; muestra memoria visoespacial y de trabajo verbal conservadas; repite, lee y escribe información sencilla que es conocida para él; sigue órdenes simples a partir de comandos verbales; muestra habilidades viso perceptuales y grafomotoras; tiene un desarrollo normal de pensamiento abstracto y asociativo, y es capaz de planear y solucionar problemas. Sin embargo, presenta dificultades en atención visual sostenida, atención audio-verbal, velocidad de procesamiento, lenguaje comprensivo, repetición y escritura al dictado de frases completas, flexibilidad cognitiva, y fluidez verbal semántica y fonológica. Se discute como factores más relevantes del funcionamiento cognitivo del paciente la relación entre el síndrome de Morquio B y la gangliosidosis GM1, y la falta de entrenamiento en el manejo de información de alta complejidad, dada su condición de desescolarización.

Abstract Since Morquio B syndrome is a low-prevalence rare disease, scarce evidence about neuropsychological functioning and cognitive status in diagnosed people is known. This case study shows the results of functioning in attention, memory, language, gnosias, praxias, and executive functions in a Colombian man diagnosed with this syndrome. It was found that the patient is capable of acquiring new information and exhibits preserved visuospatial and verbal working memory; he is also able to repeat, read and write simple information as long as it is familiar to him, and is capable of following simple verbal instructions with no difficulty; moreover, he displays preserved visuospatial and graphomotor abilities, has a normal development of abstract and associative thinking, and is able to plan and solve problems. Nonetheless, he exhibits difficulties in audio-verbal and sustained visual attention, as well as in processing speed, comprehensive language, repetition and writing of complete phrases, cognitive flexibility, and semantic and phonological verbal fluency. It is discussed the association between Morquio B syndrome and gangliosidosis GM1 as well as the lack of training in the management of highly complex information due to unschooling of this patient as the two most relevant factors of his cognitive functioning.

Use of Anti Angiogenic Drug in the Treatment for Age Related Macular Degeneration

Background: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness. Currently 2.5-3 million people worldwide are blind due to AMD. Objective:- This study were to  use of anti-angiogenic drug in the treatment for age related macular degeneration. Methods: A cross sectional study was carried out among patients attending Eye OPD of a tertiary care eye center. Results: 25 patients were included in this study . Among the 25 patients 15 were male & 10 were female. Mean visual acuity (VA) in this study improved from 5/60 to 6/36 during follow up. This was statistically significant (P <0.0001). Conclusion: The results of this study suggest that IVB (1.25 mg) is well tolerated and associated with stabilization or improvement in visual acuity, decreased central macular thickness (CMT) by ocular coherence tomography (OCT), and reduction in angiographic leakage associated with neovascular AMD.

Carboplatin and paclitaxel as an initial treatment in patients with stage IVb cervical cancer: a report of 7 cases and a review of the literature / 부인종양

OBJECTIVE: The aim of this study is to evaluate the efficacy of carboplatin-paclitaxel (TC) as an initial treatment in patients with the International Federation of Gynecology and Obstetrics (FIGO) stage IVb cervical cancer. METHODS: We retrospectively reviewed seven patients with stage IVb cervical cancer who have been primarily treated with TC. The activity and the toxicity were evaluated. Response rate was the main endpoint. RESULTS: Overall, the treatment of TC was well tolerated. The overall response rate was 71.4% (2 complete response, 3 partial response). Although grade 3-4 hematologic toxicities were observed in 3 out of 7 patients (42.8%), no patients experienced grade 3-4 non-hematologic toxicities. When we combined our present results with the previous reports, the overall response rate of TC is 63.6%. CONCLUSION: TC is active and well tolerated in patients FIGO stage IVb cervical cancer. This combination may be considered as an initial treatment regimen in this patient population.