The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

The effect of a segmental, localized lower limb cooling protocol on muscular strength and balance

The human neuromuscular system is susceptible to changes within the thermal environment. Cold extrinsic temperatures can significantly reduce muscle and nervous system function and communication, which can have consequences for motor performance. A repeated measures design protocol exposed participants to a 12°C cold water immersion (CWI) up to the ankle, knee, and hip to determine the effect that reduced skin and muscle temperature had on balance and strength task execution. Although a linear reduction in the ability to perform balance tasks was seen from the control condition through to the hip CWI, results from the study indicated a significant reduction in dynamic balance (Star Excursion Balance Test reach distance) performance from only the hip CWI (P<0.05). This reduced performance could have been due to an increase in joint stiffness, increased agonist-antagonist co-contraction, and/or reduced isokinetic muscular strength. Reduced physical performance due to cold temperature could negatively impact outdoor recreational athletics.

Neuromotor Mechanisms Involved in the Recovery from Local Muscular Fatigue

The phenomenon of over-recovery consists of a participant’s maximal force levels returning to values above initial levels. The present study examined the presence and causes of over-recovery following local muscular fatigue. Fourteen males completed two fatigue protocols consisting of maximal isometric dorsiflexion contractions. Upon completion of the fatigue protocol participants’ force was monitored over a 15 minute recovery period. Dorsiflexion force and surface electromyography (sEMG) from the tibialis anterior and soleus were monitored concurrently. Following the two fatigue conditions (10 and 20% force decrement) force recovered to 100.5 and 99.5% of initial levels for each condition, respectively. Surface EMG root-mean-square amplitude and MPF exhibited changes consistent with a warm-up effect. It was concluded that over-recovery was not present in the tibialis anterior following a local muscular fatigue. However, the return in force to initial values, rather than a persistent decrement as normally observed, was mediated by the warm-up effect.

Do Neuro-Muscular Adaptations Occur in Endurance-Trained Boys and Men?

Most research on the effects of endurance training has focused on endurance training's health-related benefits and metabolic effects in both children and adults. The purpose of this study was to examine the neuromuscular effects of endurance training and to investigate whether they differ in children (9.0-12.9 years) and adults (18.4-35.6 years). Maximal isometric torque, rate of torque development (RTD), rate of muscle activation (Q30), electromechanical delay (EMD), and time to peak torque and peak RTD were determined by isokinetic dynamometry and surface electromyography (EMG) in elbow and knee flexion and extension. The subjects were 12 endurance-trained and 16 untrained boys, and 15 endurance-trained and 20 untrained men. The adults displayed consistently higher peak torque, RTD, and Q30, in both absolute and normalized values, whereas the boys had longer EMD (64.7+/-17.1 vs. 56.6+/-15.4 ms) and time to peak RTD (98.5+/-32.1 vs. 80.4+/-15.0 ms for boys and men, respectively). Q30, normalized for peak EMG amplitude, was the only observed training effect (1.95+/-1.16 vs. 1.10+/-0.67 ms for trained and untrained men, respectively). This effect could not be shown in the boys. The findings show normalized muscle strength and rate of activation to be lower in children compared with adults, regardless of training status. Because the observed higher Q30 values were not matched by corresponding higher performance measures in the trained men, the functional and discriminatory significance of Q30 remains unclear. Endurance training does not appear to affect muscle strength or rate of force development in either men or boys.

The Role of Membrane Lipid Composition on Skeletal Muscle Damage in the Rodent Model of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a X-linked muscle disease, which leads to alterations in membrane phospholipid fatty acid (FA) composition and skeletal muscle damage. Increased membrane saturated FA in muscular dystrophy may suggest its association with increased susceptibility (as being the cause or consequence) to muscle damage. It was hypothesised that increased saturation is positively correlated to increased muscle damage. Correlations were hypothesized to be greater in extensor digitorum longus (EDL) at 20 weeks compared to soleus (SOL) at 10 weeks in dystrophin deficient (mdx) mice. Increased saturation was correlated to damage in EDL at both 10 and 20 weeks, with stronger correlations at 10 weeks. The results suggest that membrane PL FA composition may be associated with damage through two possible means. Increased saturation may be a cause or consequence of membrane damage. Association of membrane composition with eccentric induced damage has underscored the importance of saturated PL FA compositions in damage to dystrophic myofibres.

Ejercicio de resistencia muscular en adultos con diabetes mellitus tipo 2

Tesis (Maestría en Ciencias de Enfermería con Énfasis en Salud Comunitaria) UANL

Biomecánica muscular del masetero y temporal en pacientes clase II esquelética, dolicofaciales con cambio quirúrgico de plano oclusal por Iraís Lisseth Ojeda Herrera

Tesis (Maestría en Ciencias Odontológicas con Especialidad en Ortodoncia) U.A.N.L.

Evaluación histológica, histoquímica y ultraestructural del efecto inducido en el músculo esquelético por las células TC-1 implantadas en ratones C57BL

Tesis (Maestría en Ciencias con Orientación Terminal en Morfología) UANL, 2011.

Fuerza muscular, velocidad de la marcha y actividad física en adultos mayores.

Tesis (Maestría en Ciencias de Enfermería) UANL, 2012.

Nociones de fisiologia e higiene, con las nociones de anatomia humana correspondientes : obra escrita para uso de la juventud escolar y estudio de la asignatura...

UANL

Fisiologia del gusto

UANL

Ejercicio de resistencia muscular en la funcionalidad física del adulto mayor

Tesis (Doctor en ciencias de enfermería) U.A.N.L. Facultad de Enfermería, 2006.

Tecnología muscular y Educación Física.

Metodizar el sistema que debe ser empleado por todo educador físico a lo largo de un curso escolar. Adentrarse en las técnicas que permitan al educador la adecuada actuación con el alumno-hombre, mediante el dominio de lo que es el funcionamiento correcto de la máquina muscular. Analizar las distintas fases en que debe ser descompuesto todo curso académico, en orden a propiciar una mejor práctica ejercitativa, que permita un mejor adiestramiento físico del alumno. Desarrollar un plan tipo de Educación Física para los alumnos de BUP y Formación Profesional. Alumnos de BUP y Formación Profesional de las Universidades Laborales de Córdoba y Sevilla. Al comienzo del curso escolar se les explica a los alumnos el método de trabajo. Se realizan distintas pruebas de valoración, consistentes en el desarrollo de distintos ejercicios físicos, que son reflejadas por el profesor en las fichas de clase. A la terminación de los ciclos ejercitativos correspondientes se vuelven a realizar distintos tests, para deducir los resultados a final de curso. Test de Ruffier; test de Cooper. Moda; desviación típica; análisis de varianza. Se muestran a través de tablas estadísticas. En los muestreos realizados se aprecian mejoras obtenidas a lo largo del curso escolar, en velocidad, lanzada, 1000 metros lisos, trabajo de fuerza. Obtenidas las marcas y distancias por los alumnos a la iniciación del curso, cuando éstos se incorporan al centro, se constata la progresión conseguida en las diferentes pruebas a la terminación del ciclo correspondiente.

Efecto de la sustitución de la proteína de origen muscular sobre el fosfato sérico en pacientes en hemodiálisis

INTRODUCCION: La hiperfosfatemia se presenta en la mayoría de pacientes en hemodiálisis y contribuye a la mortalidad en esta población OBJETIVOS: Determinar si la sustitución del 50% de las proteínas de origen cárnico por proteínas de huevo causa una disminución significativa en el valor de fosforo en pacientes en Hemodiálisis. HIPOTESIS: La sustitución proteínas de origen cárnico por proteínas de huevo de induce una disminución significativa del fosforo en pacientes en hemodiálisis. MATERIALES Y METODOS: Se realizó un experimento que incluyó 25 pacientes a los cuales se les indicó disminuir a la mitad el consumo de carnes durante un mes; los días de hemodiálisis se administró luego de cada sesión una preparación de claras de huevo según el peso. Al empezar y al mes se determinó el valor de fosforo al igual que la albumina. ANALISIS ESTADISTICO: El desenlace principal fue la diferencia de medias de las mediciones de fósforo antes y después de la intervención; los desenlaces secundarios fueron la determinación de la diferencia de medias de albumina sérica y peso durante el período de estudio. La prueba de hipótesis se hizo mediante la prueba t para muestras pareadas. RESULTADOS: el fósforo en el análisis global no presentó diferencias. El valor de albúmina sérica disminuyo significativamente; en los pacientes con PTH menor de 400 se encontró disminución en el fósforo sérico y en el producto Calcio x Fósforo. CONCLUSIONES: la sustitución proteica logro una disminución de valores de fósforo sérico sin modificar la terapia dialítica e indujo una disminución estadísticamente significativa del valor de albúmina sérica sin impacto sobre el peso en la población global. PALABRAS CLAVE: hiperfosfatemia, hemodiálisis, sustitución proteica.