Síndrome de Kearns-Sayre: manifestaciones oftalmológicas / Kearns-Sayre syndrome: Ophthalmic manifestations

Presentamos el caso de una paciente joven con diagnóstico clínico y genético de síndrome de Kearns-Sayre (SKS). Como hallazgos, destacaban blefaroptosis, limitación de la motilidad extrínseca ocular, retinopatía en sal y pimienta así como insuficiencia mitral leve. La anatomía patológica indicaba citopatía mitocondrial y el estudio genético detectó deleción y duplicación en heteroplasmia del ADN mitocondrial. El SKS es un raro trastorno neuromuscular, caracterizado por la tríada oftalmoplejía externa progresiva, retinopatía pigmentaria y bloqueo cardíaco. La detección temprana del SKS es clave para evitar potenciales complicaciones cardíacas

The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications

[Kearns-Sayre syndrome: ophthalmic manifestations]. / Síndrome de Kearns-Sayre: manifestaciones oftalmológicas.

The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications.

Diseño de una base de datos informatizada para la gestión clínica y básica del melanoma uveal / Design of computerised database for clinical and basic management of uveal melanoma

Propósito: El melanoma uveal es el tumor intraocular primario más frecuente en la edad adulta. El objetivo de este trabajo es mostrar cómo se ha construido una base de datos informatizada con aplicaciones, tanto clínicas como de investigación concretas, a un grupo extenso de pacientes diagnosticados de melanoma de la úvea. Métodos: Para el diseño de la base de datos se realizó una selección de categorías, atributos y valores basándose en las clasificaciones y parámetros dados por diferentes autores en artículos que han tenido gran relevancia en el campo del melanoma uveal en los últimos años. Resultados: La base de datos cuenta en la actualidad con más de 250 registros de pacientes, con información específica sobre su clínica, diagnóstico, tratamiento y evolución. Nos permite realizar búsquedas sobre cualquier parámetro del registro y hacer estudios estadísticos de estos de una forma rápida y sencilla. Conclusión: Los modelos de bases de datos se han convertido en un arma fundamental para la práctica clínica, pues constituyen una forma eficaz tanto de almacenamiento como de recopilación y búsqueda selectiva de información. A la hora de realizar una base de datos es muy importante la definición de una estrategia común y el uso de un idioma normalizado (AU)

Purpose: The uveal melanoma is the most common primary intraocular tumour in adults. The objective of this work is to show how a computerised database has been formed with specific applications, for clinical and research use, to an extensive group of patients diagnosed with uveal melanoma. Method: For the design of the database a selection of categories, attributes and values was created based on the classifications and parameters given by various authors of articles which have had great relevance in the field of uveal melanoma in recent years. Results: The database has over 250 patient entries with specific information on their clinical history, diagnosis, treatment and progress. It enables us to search any parameter of the entry and make quick and simple statistical studies of them. Conclusion: The database models have been transformed into a basic tool for clinical practice, as they are an efficient way of storing, compiling and selective searching of information. When creating a database it is very important to define a common strategy and the use of a standard language (AU)

[Design of computerised database for clinical and basic management of uveal melanoma]. / Diseño de una base de datos informatizada para la gestión clínica y básica del melanoma uveal.

PURPOSE: The uveal melanoma is the most common primary intraocular tumour in adults. The objective of this work is to show how a computerised database has been formed with specific applications, for clinical and research use, to an extensive group of patients diagnosed with uveal melanoma. METHOD: For the design of the database a selection of categories, attributes and values was created based on the classifications and parameters given by various authors of articles which have had great relevance in the field of uveal melanoma in recent years. RESULTS: The database has over 250 patient entries with specific information on their clinical history, diagnosis, treatment and progress. It enables us to search any parameter of the entry and make quick and simple statistical studies of them. CONCLUSION: The database models have been transformed into a basic tool for clinical practice, as they are an efficient way of storing, compiling and selective searching of information. When creating a database it is very important to define a common strategy and the use of a standard language.

Afrontamiento y manejo de la enfermedad en pacientes con diabetes mellitus tipo 1 / Coping and management of the disease in patients with diabetes mellitus type 1

Objetivo. Indagar sobre el tipo de afrontamiento que realizan los pacientes con DM tipo 1 que acuden a una consulta de educación de enfermería y analizar si existe relación entre el tipo de afrontamiento (EA) y el control-automanejo de la enfermedad. Método. Estudio descriptivo transversal realizado sobre todos los pacientes que acuden a una consulta de educación diabetológica en el Hospital de Ourense. Se recogieron variables sociodemográficas, clínicas y relacionadas con el manejo de la DM. Para la evaluación de los EA se utilizó el Cuestionario Médico de Estrategias de Afrontamiento de Feifel, que diferencia 3 EA: confrontación (C), evitación (E) y/o aceptación resignada (AR), estableciendo un índice total de afrontamiento (IMCMQ). Los datos fueron analizados con el programa SPPS 15.0. Resultados. Participaron 51 pacientes. El perfil de paciente es un hombre que lleva 14,56 años (± 11,44) diagnosticado de DM, siendo sus últimas cifras de hemoglobina glicosilada (HbGl) de 7,5% (± 1,04). Las puntuaciones para los EA fueron: C 21 ± 3,4; E 11,73 (± 3,5); AR 8,47 (± 1,02); IMCMQ 1,013 (± 0,23). Encontramos diferencias significativas (p=0,01) entre el IMCMQ y los valores de HbGl. Conclusiones. Nuestros pacientes utilizan un EA-C, entendido éste como aquel en el que la persona trata de entender y abordar abiertamente la situación. Es el estilo más eficaz y el de mejor pronóstico. A la luz de los datos obtenidos podemos inferir que nuestros pacientes poseen un EA activo y adecuado hacia la DM y que éste influye positivamente en el control de sus valores de HbGl (AU)

Objective. To investigate how patients with DM Type 1 attending a nursing education clinic cope with the disease and to analyse the relationships between the style of coping (CS) and control-self-management of the disease. Method. A cross sectional study was performed on all patients attending a diabetes education consultation at the Hospital of Ourense. The sociodemographic and clinical variables, as well as those related to the management of DM were collected. The Medical Questionnaire Coping Strategies of Feifel was used to assess the CS using 3 different models: confrontation (C), avoidance (A) and/or resigned acceptance (RA), and a total coping index (IMCMQ) was established. The data were analysed with SPSS 15.0 statistics program. Results. A total of 51 patients. The average profile of patient is of a male who had been diagnosed with DM for 14.56 years (±11.44), and with latest HbA1c levels of 7.5% (±1.04). The scores for the CS were: C 21±3.4, A 11.73 (±3.5), RA 8.47 (±1.02); IMCMQ 1.013 (±0.23). As for the relationship between the IMCMQ score and the latest HbA1c values, there were significant differences (P=0.01). Conclusions. Our patients use the CS-C, understood as one in which a person tries to understand and address the situation openly. This style is the most effective and associated with best prognosis. In light of the data obtained, we can infer that our patients have an active and appropriate CS and it has a positive impact on their HbA1c values (AU)

[Coping and management of the disease in patients with diabetes mellitus type 1]. / Afrontamiento y manejo de la enfermedad en pacientes con diabetes mellitus tipo 1.

OBJECTIVE: To investigate how patients with DM Type 1 attending a nursing education clinic cope with the disease and to analyse the relationships between the style of coping (CS) and control-self-management of the disease. METHOD: A cross sectional study was performed on all patients attending a diabetes education consultation at the Hospital of Ourense. The sociodemographic and clinical variables, as well as those related to the management of DM were collected. The Medical Questionnaire Coping Strategies of Feifel was used to assess the CS using 3 different models: confrontation (C), avoidance (A) and/or resigned acceptance (RA), and a total coping index (IMCMQ) was established. The data were analysed with SPSS 15.0 statistics program. RESULTS: A total of 51 patients. The average profile of patient is of a male who had been diagnosed with DM for 14.56 years (±11.44), and with latest HbA1c levels of 7.5% (±1.04). The scores for the CS were: C 21±3.4, A 11.73 (±3.5), RA 8.47 (±1.02); IMCMQ 1.013 (±0.23). As for the relationship between the IMCMQ score and the latest HbA1c values, there were significant differences (P=0.01). CONCLUSIONS: Our patients use the CS-C, understood as one in which a person tries to understand and address the situation openly. This style is the most effective and associated with best prognosis. In light of the data obtained, we can infer that our patients have an active and appropriate CS and it has a positive impact on their HbA1c values.