Evaluación multimodal de un «micromelanocitoma» del disco óptico: un reporte de caso / Multimodal imaging assessment of a “micro” optic disk melanocytoma: A case report

Un melanocitoma del disco óptico es una lesión neoplásica pigmentada y benigna que en promedio mide 2,00mm de diámetro. Melanocitomas del disco óptico más pequeños son raros y no han sido estudiados con múltiples técnicas de imagen. Un caso de un «micromelanocitoma» del disco óptico con un diámetro de 0,71mm fue estudiado con múltiples estudios de imagen, incluyendo autofluorescencia de fondo de ojo, ultrasonido ocular, campos visuales, tomografía de coherencia óptica (OCT) y angiografía por OCT. Mientras que la exploración con biomicroscopia y la autoflourescencia de fondo de ojo revelan cambios compatibles con los casos de tamaño promedio previamente publicados, la OCT, angiografía por OCT y el ultrasonido revelan cambios que difieren de los artículos previos y que podrían ser útiles para el seguimiento (AU)

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a “micro” optic disk melanocytoma measuring 0.71mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up (AU)

Multimodal imaging assessment of a "micro" optic disk melanocytoma: A case report.

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00 mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a "micro" optic disk melanocytoma measuring 0.71 mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up.

Multimodal imaging assessment of a "micro" optic disk melanocytoma: A case report. / Evaluación multimodal de un «micromelanocitoma¼ del disco óptico: un reporte de caso.

An optic disk melanocytoma is a benign pigmented neoplasm of the optic disk measuring 2.00mm of diameter in average. Smaller optic disk melanocytomas are rare and have not been studied with multiple imaging studies. A case of a "micro" optic disk melanocytoma measuring 0.71mm in diameter was studied by multiple imaging modalities, including fundus autofluorescence, ultrasound, visual fields, optical coherence tomography (OCT) and OCT angiography. While clinical appreciation and fundus autofluorescence reveal changes compatible with previously reported cases, OCT, OCT angiography and ultrasound reveal specific changes that could be useful for follow up.

Pitiriasis rubra pilaris en niños:informe de 2 casos / Pityriasis Rubra Pilaris in children: 2 case reports

RESUMEN Antecedentes: La pitiriasis rubra pilaris es una enfermedad infrecuente pápulo-escamosa crónica en la que existe un trastorno de la queratinización de la epidermis, caracterizada por pápulas foliculares hiperqueratósicas con tendencia a formar placas de coloración asalmonada, descamativas, con islas de piel sana asociadas a queratodermia palmo plantar. Presenta una distribución bimodal en la primera y sexta década de la vida, afectando a ambos sexos por igual. Su etiopatogenia es desconocida, se ha postulado una respuesta inmune anormal ante diferentes estímulos antigénicos, así como alteración del metabolismo de la vitamina A. Se ha clasificado en 6 tipos en base a su presentación, edad de inicio, curso y pronóstico, tratándose en forma tópica o sistémica. Casos clínicos: Se presentan dos casos en pacientes de 10 y 2 años de edad, con manifestaciones clínicas correspondientes al tipo juvenil circunscrito, que es el más frecuente en edad pediátrica y juvenil clásico respectivamente, con histopatología compatible y excelente respuesta al tratamiento tópico. Conclusiones: Aunque la pitiriasis rubra pilaris es una patología rara, deberá ser sospechada si el cuadro clínico es sugestivo, y si es compatible su histopatología. Debe considerarse que el tratamientotópico puede ser suficiente para lograr la resolución del cuadro.

ABSTRACT Background: Pityriasis rubra pilaris is an infrequent chronic papulosquamous disease in which there is a disorder of keratinization of the epidermis, characterized by hyperkeratotic follicular papules with a tendency to form salmon-colored, scaly plaques, with islands of healthy skin associated with palmoplantar keratoderma. It presents a bimodal distribution in the first and sixth decades of life, affecting both sexes equally. Its etiopathogenesis is unknown, an abnormal immune response has been postulated to different antigenic stimuli, as well as alteration of the metabolism of vitamin A. It has been classified into 6 types based on its presentation, age of onset, course and prognosis, being treated appropriately topical or systemic. Clinical cases: Two cases of 10 and 2 years of age are presented, with clinical manifestations corresponding to the circumscribed juvenile type, which is the most frequent in pediatric and classic juvenile age respectively, with compatible histopathology and excellent response to topical treatment. Conclusions: Although pityriasis rubra pilaris is a rare pathology, it should be suspected if the clinical picture is suggestive and its histopathology is compatible. It should be considered that topical treatment may be sufficient to achieve resolution of the condition.

Intra-Arterial Chemotherapy for Retinoblastoma in Infants ≤10 kg: 74 Treated Eyes with 222 IAC Sessions.

BACKGROUND AND PURPOSE: Intra-arterial chemotherapy for retinoblastoma has dramatically altered the natural history of the disease. The remarkable outcomes associated with a high safety profile have pushed the envelope to offer treatment for patients weighing ≤10 kg. The purpose was to determine the efficacy and safety of IAC infusions performed in infants weighing ≤10 kg with intraocular retinoblastoma. MATERIALS AND METHODS: A retrospective chart review was performed for patients diagnosed with retinoblastoma and managed with intra-arterial chemotherapy. RESULTS: The total study cohort included 207 retinoblastoma tumors of 207 eyes in 196 consecutive patients who underwent 658 intra-arterial chemotherapy infusions overall. Of these, patient weights were ≤10 kg in 69 (35.2%) and >10 kg in 127 (64.8%) patients. Comparison (≤10 kg versus >10 kg) revealed that the total number of intra-arterial chemotherapy infusions was 222 versus 436. Periprocedural complications were not significantly different (2 [0.9%] versus 2 [0.5%]; P = .49). Cumulative radiation exposure per eye was significantly lower in infants weighing ≤10 kg (5.0 Gym2 versus 7.7 Gym2; P = .01). Patients weighing ≤10 kg had a greater frequency of complete tumor regression (82.6% versus 60.9%; P = .02). Mean fluoroscopy time was not significantly different (7.5 versus 7.2; P = .71). There was a significant difference in the frequency of enucleation (16 [21.6%] versus 52 [39.1%]; P = .01). Patients weighing ≤10 kg had greater number of aborted procedures (12 [5.4%] versus 7 [1.6%]; P = .01). On multivariate analysis, weight ≤10 kg was not an independent predictor of complications or procedure failure. CONCLUSIONS: Intra-arterial chemotherapy in patients weighing ≤10 kg is a safe and effective treatment.

Porphyrin biosynthesis in normal and haem mutants of Saccharomyces cerevisiae. Studies on the inheritance of the HEM R+ phenotype.

Heme biosynthesis was studied in the segregants of Saccharomyces cerevisiae (DW10 tetrade 2) from D27 and D27/C6 mating, as a function of the carbon source in the growth medium and the physiological state of the cells. The effects of the HEM R+ gene on the 5-aminolevulinate synthase (ALA-S) and 5-aminolevulinate dehydratase (ALA-D) activities of heme biosynthesis in cells grown on nonfermentable and fermentable carbon sources were compared. Profiles obtained for both strains grown on a fermentable carbon source (glucose) were identical. However, in the presence of a nonfermentable carbon source (ethanol), they behave quite different, as if the mutation could only be expressed under these growth conditions. Moreover, their behavior is similar to that found for the parental strains, indicating that for the mutant its particular behavior might be inheritedly linked to the HEM R+ gene, which in turn affects some regulatory aspects of ALA synthesis explaining its characteristic phenotype.

Vigilancia de niveles plasmaticos de difenilhidantoina en pacientes epilepticos. / Surveillance of diphenylhydantoin serum levels in epileptic patients

Se presentan los resultados de un estudio realizado en 83 pacientes epilepticos que acudem periodicamente al Servicio de Electroencefalografia del Hospital Infantil de Mexico "Federico Gomez". El objetivo del mismo fue determinar las concentraciones plasmaticas de difenilhidantoina (DFH), obtenidas con diferentes dosis y relacionarlas con el estado clinico del paciente y su electroencefalograma; las muestras sanguineas se analizaron por el metodo de cromatografia de gas liquido. De acuerdo a los hallazgos encontrados, se describe que 55.4% de los pacientes estudiados presentan una concentracion plasmatica de DFH inferior a la considerada como terapeutica; el 38.4% de 39 pacientes no tienen un adecuado control de sus crisis convulsivas y el 46.1% de este grupo presentaron un trazo electroencefalografico anormal y una concentracion plasmatica de DFH inferior a la descrita como terapeutica por diferentes autores