Search results for "Malformaciones"
showing 8 items of 8 documents
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Effects of cardiopulmonary rehabilitation on the muscle function of children with Congenital Heart Disease : a prospective cohort study
2021
Critical medical and surgical advances have led to a shift in the care and management of children with congenital heart disease (CHD). These patients present with muscle deconditioning, which negatively influences their response to exercise, functional capacities, and quality of life. This study evaluates the influence of a cardiopulmonary rehabilitation program (CPRP) on the function of peripheral musculature of children with CHD. A single-center prospective cohort study was designed. Fifteen CHD subjects, between 12 and 16 years of age, with reduced aerobic capacity on a cardiopulmonary exercise test, were included in a three-month, 24-session CPRP. Measurements of the subjects’ handgrip …
Estudio de las malformaciones vasculares evaluadas a lo largo de una década en un hospital de referencia con un comité multidisciplinar
2021
Introducción: las malformaciones vasculares (MV) son lesiones congénitas, benignas, consecuencia de alteraciones en la vasculogénesis sin que exista un recambio celular endotelial. A pesar de que suponen un motivo de consulta relativamente frecuente, hay muy pocos datos sobre epidemiología, clínica y manejo de las mismas desde un punto de vista dermatológico. Las diferencias entre subtipos, la gran cantidad de especialistas involucrados en su manejo y la nomenclatura confusa empleada a lo largo de los años son, en parte, motivo de esa escasez de datos. Objetivos: el principal objetivo de este estudio es describir la epidemiología de las MV: frecuencia de los distintos subtipos de MV de form…
The reliability, validity, and sensitivity of the Edmonton Frail Scale (EFS) in older adults with foot disorders
2020
[Abstract] The Edmonton Frail Scale (EFS) is an index employed to measure alterations related to frailty. The main objective in this research was to develop the EFS short-form (EFS-SF) and to evaluate its validity, reliability, and sensitivity to predict frailty disability outcomes in elderly patients with foot disabilities. Results: Exploratory factor analysis (EFA) of the EFS-SF revealed the presence of three components, as in the original EFA. There were significant differences (p < 0.05) in the study population for several of the EFS and 5-item FRAIL scale indicators. The highest correlation (Pearson R = 0.871; p < 0.001) was found for the first component of the EFS-SF. Finally, the Cro…
Changes in trunk posture and muscle responses in standing during pregnancy and postpartum
2018
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194853 The aim of this study was to analyze the position of the lumbopelvic region and the muscle activation of erector spinae and biceps femoris muscles in a group of pregnant women in the third trimester. The hypothesis was that pregnancy-related biomechanical and morphological changes modify the position of the lumbopelvic region and the activation of extensor muscles. The position of the lumbar spine and pelvis in the sagittal plane, and the EMG activity of the erector spinae and biceps femoris muscles, were recorded during standing…
Hipoplasia pulmonar en el adulto: descripción, patogenia y revisión
2002
La hipoplasia pulmonar es una entidad muy poco frecuente caracterizada por una detención en el desarrollo pulmonar, que produce que estos órganos se encuentren poco desarrollados. Habitualmente esta enfermedad es diagnosticada en la infancia y son muy pocos los casos que pasan desapercibidos detectándose en la edad adulta (>18 años). Presentamos cuatro casos de pacientes adultos diagnosticados de hipoplasia pulmonar por diversas técnicas (de imagen o invasivas), que consultaron por sintomatología inespecífica, sobre todo relacionada con infecciones respiratorias y su posterior evolución a lo largo de los años. Repasamos además la patogenia, etiología y malformaciones asociadas de esta enfer…
Responsabilidad civil derivada de daños corporales (enfermedades y malformaciones) de menores durante el embarazo y la lactancia
2015
Es un hecho constatado por los expertos, y así se ha observado en la realidad social, que los progenitores pueden causar al feto desde el momento de la concepción hasta el momento de su nacimiento, durante la permanencia en el seno materno, daños, bien causándole lesiones o trasmitiéndole enfermedades, ocasionando menoscabos, con diferente grado de afección, en su salud, determinando por ello una conculcación de su integridad física. No existe en nuestro ordenamiento jurídico una norma concreta que de manera explícita reconozca al concebido no nacido el derecho a la vida y a la integridad física, dado que no se le atribuye personalidad jurídica por aplicación de los arts. 29 y 30 CC. Pese a…
Novel Digital Technique to Quantify the Area and Volume of Cement Remaining and Enamel Removed after Fixed Multibracket Appliance Therapy Debonding: …
2020
The aim of this study was to construct a novel, repeatable, reproducible, and accurate measurement protocol for the area and volume of the remaining cement after removal of fixed multibracket appliances, the area and volume of remaining cement after cement removal, the area and volume of enamel removed after cement removal, and the volume of cement used to adhere fixed multibracket appliances. A total of 30 brackets were cemented and removed with over 30 extracted teeth embedded into three experimental models of epoxy resin. The models were scanned before and after bracket placement, bracket debonding, and polishing the remaining cement. The brackets were submitted to micro-computed tomogra…