Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Un protocolo de análisis contingencial : aproximación a la validez de contenido

El análisis contingencial es una alternativa novedosa ante los modelos de evaluación psicológica desarrollados previamente (psicopatológico, psicodinámico, de la terapia sistémica familiar, humanista y cognitivo-conductual), que pretende definir los problemas de los consultantes con base en las relaciones entre su comportamiento, la conducta de otros y las prácticas sociales en la que se circunscriben ambos. Con el objetivo de validar un protocolo de evaluación fundamentado en el análisis contingencial, tres psicólogos clínicos con experiencia, analizaron cada una de las categorías propuestas: datos iniciales, identificación de las relaciones microcontingenciales, definición de las relaciones macrocontingenciales, génesis del problema, análisis de soluciones y procedimientos de intervención; con base en los criterios de claridad (grado en el que el ítem es presentado de forma precisa y clara, que permite su fácil compresión) y pertinencia (correspondencia entre el contenido del ítem y la dimensión para la cual será usado). Los resultados encontrados indican que cada una de las categorías del protocolo permiten evaluar adecuadamente las problemáticas de los usuarios debido a que todas fueran consideradas como pertinentes, no obstante, se requiere modificar algunos aspectos ya que no cuentan con la claridad suficiente para ser comprensibles, probablemente por el uso de un lenguaje demasiado técnico, que conllevaría a errores en el proceso de evaluación.

Terapia celular para el tratamiento de la enfermedad de Alzheimer: angiogénesis terapéutica inducida por células microencapsuladas secretoras del factor de crecimiento del endotelio vascular

197 p. (Bibliogr. 189-197)

Intervención nutricional en individuos portadores del SNPTrp64Arg para el gen ADRB3

SIN FINANCIACIÓN

Pautas de ejercicio físico en individuos portadores del SNPTRP64ARG para el gen ADRB3

SIN FINANCIACIÓN

Búsqueda de mutaciones en el gen hGH-N en pacientes con deficiencia de hormona del crecimiento humano

Tesis (Maestría en Ciencias con Especialidad en Biología Moleculare Ingeniería Genética) UANL

Detección de mutaciones en el gen CFTR en la población del Noreste de México

Tesis (Maestría en Ciencias con Especialidad en Biología Molecular e Ingeniería Genética) UANL

Análisis del patrón de expresión de un gen cuya expresión es afectada por la inactivación del factor de transcripción Nurr1

Tesis (Maestría en Ciencias con Especialidad en Morfología) UANL

Competencias profesionales de enfermería en la atención del paciente sometido a terapia transfusional.

Tesis (Maestría en Ciencias de Enfermería con Énfasis en Administración de Servicios) UANL, 2010.

Estudio de caso : el proceso de la terapia breve en el afrontamiento del estrés en un cuidador de paciente diagnosticado con afasia.

Tesis (Maestría en Psicología con Orientación en Terapia Breve) UANL, 2013.

Diseño y evaluación de la actividad antitumoral de versiones mutantes de la proteína E7 del HPV-16 fusionadas a calreticulina en un modelo murino mediante terapia génica adenoviral.

Tesis (Doctor en Ciencias con Orientación Terminal en Morfología) UANL, 2010.

Proyecto de terapia con animales para los alumnos con discapacidades del Centro de Educaci??n Especial La Alegr??a

Seleccionado en la convocatoria: Ayudas para proyectos de tem??tica educativa, Gobierno de Arag??n 2008-2009

IQ heritability estimation : analyzing genetically-informative data with structural equation models. 'Estimaci??n de la heredabilidad del CI : analizando datos gen??ticamente informativos con modelos de ecuaciones estructurales'

Resumen tomado de la publicaci??n. Resumen tambi??n en ingl??s