Results 1 to 10 of about 1,496 (165)
Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento
Anales De Pediatría, 2022 Resumen: La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social.
Antonio Leiva-Gea +1 more
exaly +5 more sources
Acondroplasia y gestación: Caso clínico [PDF]
Revista Chilena De Anestesia, 2022 Ivana Nilce Sagastume
exaly +3 more sources
Functioning and well-being in older children and adolescents with achondroplasia: A qualitative study. [PDF]
Am J Med Genet A, 2022 Abstract The study aimed to explore how having achondroplasia affects older children and adolescents' day‐to‐day functioning and well‐being. Individual/focus group interviews were conducted with older children/adolescents between the ages of 9 to <18 years and diagnosed with achondroplasia to elicit key concepts.
Pfeiffer KM +5 more
europepmc +2 more sources
Assessing physical symptoms, daily functioning, and well-being in children with achondroplasia. [PDF]
Am J Med Genet A, 2021 Abstract This study's purpose was to provide qualitative evidence to support the development of two observer‐reported outcome measures assessing the physical symptoms/complications of achondroplasia in children and impacts on children's quality of life. Individual/focus group concept elicitation interviews were conducted with parents of children aged 2
Pfeiffer KM +6 more
europepmc +2 more sources
Real-world evidence in achondroplasia: considerations for a standardized data set [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and ...
Yasemin Alanay +24 more
doaj +2 more sources
Case Reports, 2021 Introducción. La acondroplasia es una condición congénita causada por una mutación del gen codificador de crecimiento del fibroblasto que afecta la osificación endocondral y genera discapacidad estructural; además, es la causa más común de talla baja ...
Z R Rincón Rueda +2 more
exaly +3 more sources
Anestesia para cesárea en paciente con acondroplasia
Revista Peruana de Investigación Materno Perinatal, 2017 Objetivo. Describir el manejo anestésico de una paciente con acondroplasia programada para cesárea electiva, empleando la anestesia espinal.
Marjorie Lisseth Calderón-Lozano +2 more
doaj +2 more sources
Análisis mutacional de la acondroplasia en 20 pacientes colombianos
Revista de la Facultad de Medicina, 2010 Antecedentes. La acondroplasia es la más común de las displasias esqueléticas. Se trata de una enfermedad autosómica dominante con penetrancia completa.
Ángela Castro +7 more
doaj +4 more sources
La acondroplasia: aportes para la inclusión educativa de las infancias
Mundo Fesc, 2023 This qualitative epistemological research project, with a documentary design, seeks to recognize the pedagogical contributions derived from an interdisciplinary understanding of achondroplasia as an object of study in early childhood education, given ...
María Yolima Corredor Rojas +2 more
doaj +2 more sources
Anestesia para cesárea en paciente con acondroplasia
Colombian Journal of Anesthesiology, 2012 ResumenIntroducciónEn gestantes acondroplásicas se recomienda el parto por cesárea con anestesia general; sin embargo, recientemente se ha reportado el uso de técnicas conductivas con resultados adecuados.ObjetivoDescribir el manejo anestésico de una paciente con acondroplasia programada para cesárea utilizando anestesia combinada espinal-epidural ...
Osorio Rudas, Walter +6 more
exaly +3 more sources