ABSTRACT
The aim of the study was to analyze the muscle fibers by histochemistry and morphometric methods from patients with Duchenne muscular dystrophy (DMD). Muscle biopsies were taken from the vastus lateralis muscle of five boys between 13 and 15-years of age, with clinical diagnosis of DMD. The histochemistry was performed using myofibrillar ATPases (9.6, 4.6 and 4.3). To morphometrical analysis a computerized semiautomatic system and software Image-Lab was used. ATPase staining showed atrophy of muscle fibers. Fibrosis and adipose deposition occurred in variable degree depending of muscular involvement. The morphometrical analysis showed an increase of size (percentage) to type I fiber than other types in all patients. Furthermore, the type I fiber had a larger cross-sectional area and mean diameter than type IIa and IIb fibers. Both histochemistry and morphometric analysis could be important tools for qualitative and quantitative diagnostics of muscle fibers attacked in this type of disease.
El objetivo del estudio fue analizar las fibras musculares mediante histoquímica y métodos morfométricos en pacientes con distrofia muscular de Duchenne (DMD). Se tomaron biopsias musculares del músculo vasto lateral de cinco niños entre 13 y 15 años de edad, con diagnóstico clínico de DMD. La histoquímica se realizó mediante ATPasa miofibrilar (9.6, 4.6 y 4.3). Para el análisis morfométrico se utilizó un sistema semiautomático computarizado y software de imagen de laboratorio. La tinción de ATPasa mostró una atrofia de las fibras musculares. La fibrosis y depósito adiposo se observó en grado variable dependiendo del compromiso muscular. El análisis morfométrico mostró un aumento de tamaño (porcentaje) de fibras tipo I en todos los pacientes. Además, la fibra tipo I tuvo un área de sección transversal y diámetro medio mayor que las fibras tipos IIa y IIb. Tanto la histoquímica y el análisis morfométrico pueden ser herramientas importantes para el diagnóstico cualitativo y cuantitativo de las fibras musculares comprometidas en este tipo de enfermedad.
Subject(s)
Child , Muscular Dystrophy, Duchenne/surgery , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/physiopathology , Muscular Dystrophy, Duchenne/genetics , Muscular Dystrophy, Duchenne/microbiology , Muscle Fibers, Slow-Twitch/cytology , Muscle Fibers, Slow-Twitch/classification , Muscle Fibers, Slow-Twitch/chemistry , Muscle Fibers, Slow-Twitch/ultrastructure , Histocytochemistry/methods , Histological Techniques/methodsABSTRACT
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of the variants and their relative frequency is essential for accurate diagnosis. Aim: To study the spectrum of morphologic changes in immunohistochemically proven cases of dysferlinopathies, to correlate the findings with clinical phenotype and durations of illness and determine the frequency. Materials and Methods: Dysferlinopathies seen over a period of 2 years at a tertiary neurological center were analyzed. Results: Clinically, majority had Miyoshi phenotype (46.6%) with distal involvement and LGMD phenotype (40%) with proximal muscle involvement. In addition, a proximo-distal and tibial muscle phenotype was encountered. Morphologically, rimmed vacuoles were noted in the Miyoshi phenotype. The presence of ragged red fibers, lobulated fibers and inflammation had no preference to a particular phenotype. Significant atrophy and lobulated fibers were noted in patients with longer duration of illness. Conclusions: Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%).
Subject(s)
Adolescent , Adult , Female , Humans , Immunohistochemistry , Male , Membrane Proteins/analysis , Microscopy , Middle Aged , Muscle Cells/ultrastructure , Muscle Fibers, Slow-Twitch/ultrastructure , Muscle Proteins/analysis , Muscle, Skeletal/pathology , Muscular Dystrophies, Limb-Girdle/pathology , Vacuoles/ultrastructure , Young AdultABSTRACT
El presente trabajo estudia la hipertrofia maseterina desde el punto de vista ultraestructural del músculo masetero con hipertrofia. Para el mismo se toma una muestra de los músculos que presentan esta condición en 13 pacientes que acudieron a la Facultad de Odontología de la UCV. Las muestras de los pacientes con hipertrofia maseterina diagnosticada clínicamente, se observaron al miscroscopio electrónico. En el estudio se reportan hallazgos que hacen inferir que se está en presencia de una seudohipertrofia más que una hipertrofia verdadera. Se presentan los resultados parciales de esta investigación como aporte al estudio ultraestructural de los músculos masticatorios creando nuevas rutas en la investigación, en este renglón