Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

[Epidemiology of myasthenia gravis in the Iberian Peninsula and Latin America]. / Epidemiología de la miastenia grave en la península ibérica y Latinoamérica.

INTRODUCTION: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America. DEVELOPMENT: A literature search was conducted in Medline, LILACS and Google Scholar for the different countries of interest using the terms 'prevalence', 'incidence', 'epidemiology' and 'myasthenia gravis'. The methodology and quality were reviewed, and descriptive data about the study population as well as data on prevalence were extracted. CONCLUSIONS: Many countries lack epidemiological studies on myasthenia gravis and in others the data reported focus on one referral hospital, making it difficult to compare prevalence between countries. In the Iberian Peninsula, the prevalence is consistently above 100 cases x 106 inhabitants, the highest figures being found in the area of Osona (Barcelona) and in the province of Ourense. In Latin America, much lower prevalence figures are reported, generally below 100 x 106 inhabitants. There is a predominance of females in the early-onset forms (<50 years) and a clear increase in prevalence in the elderly population, especially in the very late onset forms (>65 years), where it is more frequent in men.

TITLE: Epidemiología de la miastenia grave en la península ibérica y Latinoamérica.Introducción. Aunque hoy en día vivimos en un mundo globalizado, los vínculos establecidos entre la península ibérica y los países de Latinoamérica son especialmente fuertes y con importantes flujos migratorios. Esta conexión puede condicionar la presentación de enfermedades que reconozcan una influencia genética, la cual puede ser modulada por diversos factores medioambientales. El objetivo de esta revisión es conocer la epidemiología descriptiva de la miastenia grave en la península ibérica y en Latinoamérica. Desarrollo. Se realizó una búsqueda bibliográfica en Medline, en LILACS y en Google Scholar para los diferentes países de interés con los términos 'prevalence', 'incidence', 'epidemiology' y 'myasthenia gravis'. Se revisó la metodología y la calidad, y se extrajeron datos descriptivos de la población estudiada, así como los datos de prevalencia. Conclusiones. Muchos países carecen de estudios epidemiológicos sobre la miastenia grave, y en otros, los datos comunicados se centran en un hospital de referencia, lo que hace difícil la comparación de la prevalencia entre los diferentes países. En la península ibérica, la prevalencia es constantemente superior a 100 casos × 106 habitantes, con las cifras más altas correspondientes a la comarca de Osona (Barcelona) y a la provincia de Ourense. En Latinoamérica se registran cifras mucho menores de prevalencia, generalmente inferiores a 100 × 106 habitantes. Se constata un predominio femenino en las formas de inicio precoz (<50 años) y un claro aumento de la prevalencia en la población anciana, sobre todo en las formas de inicio muy tardío (>65 años), en las que es más frecuente en los varones.

Epidemiología de la miastenia grave en la península ibérica y Latinoamérica / Epidemiology of myasthenia gravis in the Iberian Peninsula and Latin America

Introducción: Aunque hoy en día vivimos en un mundo globalizado, los vínculos establecidos entre la península ibérica y los países de Latinoamérica son especialmente fuertes y con importantes flujos migratorios. Esta conexión puede condicionar la presentación de enfermedades que reconozcan una influencia genética, la cual puede ser modulada por diversos factores medioambientales. El objetivo de esta revisión es conocer la epidemiología descriptiva de la miastenia grave en la península ibérica y en Latinoamérica. Desarrollo: Se realizó una búsqueda bibliográfica en Medline, en LILACS y en Google Scholar para los diferentes países de interés con los términos ‘prevalence’, ‘incidence’, ‘epidemiology’ y ‘myasthenia gravis’. Se revisó la metodología y la calidad, y se extrajeron datos descriptivos de la población estudiada, así como los datos de prevalencia. Conclusiones: Muchos países carecen de estudios epidemiológicos sobre la miastenia grave, y en otros, los datos comunicados se centran en un hospital de referencia, lo que hace difícil la comparación de la prevalencia entre los diferentes países. En la península ibérica, la prevalencia es constantemente superior a 100 casos × 106 habitantes, con las cifras más altas correspondientes a la comarca de Osona (Barcelona) y a la provincia de Ourense. En Latinoamérica se registran cifras mucho menores de prevalencia, generalmente inferiores a 100 × 106 habitantes. Se constata un predominio femenino en las formas de inicio precoz (<50 años) y un claro aumento de la prevalencia en la población anciana, sobre todo en las formas de inicio muy tardío (>65 años), en las que es más frecuente en los varones.(AU)

Introduction: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America. Development: A literature search was conducted in Medline, LILACS and Google Scholar for the different countries of interest using the terms ‘prevalence’, ‘incidence’, ‘epidemiology’ and ‘myasthenia gravis’. The methodology and quality were reviewed, and descriptive data about the study population as well as data on prevalence were extracted. Conclusions: Many countries lack epidemiological studies on myasthenia gravis and in others the data reported focus on one referral hospital, making it difficult to compare prevalence between countries. In the Iberian Peninsula, the prevalence is consistently above 100 cases × 106 inhabitants, the highest figures being found in the area of Osona (Barcelona) and in the province of Ourense. In Latin America, much lower prevalence figures are reported, generally below 100 × 106 inhabitants. There is a predominance of females in the early-onset forms (<50 years) and a clear increase in prevalence in the elderly population, especially in the very late onset forms (>65 years), where it is more frequent in men.(AU)

[Hemolytic anemias caused by erythrocyte enzyme disorders]. / Anemias hemolíticas eritroenzimopáticas.

The congenital alterations of red cell enzymes are one of the most frequent causes of red cell hemolysis. The enzyme defects have more important effects on the red cells than any other cells in the body with the same alteration. It is because red cells do not have a protein regenerating system, this meaning that they have to keep the enzyme level during the circulation time. In order to study this defect, they are classified as follows: a) defects of glycolytic pathway; b) defects of glutathionE++ pathway; c) defects of the nucleotidic metabolism. The most frequent defects are: the deficiency of: G6PD, of pyruvate kinase, of glucose phosphate isomerase and probably pyrimidine 5'-nucleotidase deficiency.