International guidelines for the management and treatment of Morquio A syndrome.

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.Hospital de Clinicas de Porto Alegre Serviço de Génetica MédicaUniversidade Federal do Rio Grande do Sul Departamento de GéneticaInstituto Nacional de Genética Médica PopulacionalAsociación Colombiana de Neurología InfantilInstituto Mexicano del Seguro SocialInstituto de Estudios AvanzadosHospital de NiñosLa Misericordia University HospitalUniversidade Federal de São Paulo (UNIFESP) Centro de Referência em Erros Inatos do MetabolismoUniversidade Federal de BahiaUniversidad de Chile Instituto de Nutrición y Tecnología de los AlimentosHospital Italiano Instituto de Genética MédicaHospital Pequeno Príncipe Departamento de NeuropediatraHospital Universitario AustralUNIFESP, Centro de Referência em Erros Inatos do MetabolismoSciEL

Innovación, desarrollo tecnológico y gestión : una construcción desde la investigación

Libro que compila investigaciones de carácter aplicadas y descriptivas en materia de innovación y desarrollo tecnológico, gestión organizacional y empresarial orientada a productividad, rentabilidad, competitividad y sostenibilidadBook that compiles researches of applied and descriptive character in the matter of innovation and technological development, organizational and business management oriented to productivity, profitability, competitiveness and sustainabilityCapítulo 1. Material compuesto para la construcción a partir de la celulosa del papel y cartón reciclado / Carlos Arturo Tamayo S; Nicolás Montero Camacho; Fredy Antonio Herrera -- Capítulo 2. Tecnologías de conservación para base de sopa de frijol rojo (phaseolus vulgaris) y vegetales / Yaceris Castro Escorcia; Teresa Altamar Pérez; Enedys Florez Cortés; Ángela Ortiz Ruiz. Capítulo 3. Utilización de harina compuesta de frijol caupi (vigna unguiculata) en masas para alimentos congelados / Marcela Villalba Cadavid; Matilde Rodríguez Muñoz; Beatriz Fernández; Juan Mendoza Combatt -- Capítulo 4. Elaboración de biorrecubrimiento comestible para carne de hamburguesa como alternativa de conservación y condimento natural / Camila Andrea Ubaque Beltrán. CAPÍTULO 5. Identificación de alternativas de industrialización de productos y subproductos agroindustriales en nuevos materiales bio poliméricos / Luz Henao Díaz; Deya Pérez Zúñiga; Herold Arango Gómez. Capítulo 6. SCADA inalámbrico para monitoreo de sistemas de energía solar / Nelson Giovanni Agudelo Cristancho; Juan Carlos Amezquita Tovar; Ángela María Montoya Castro. -- Capítulo 7. Evaluación de la calidad del agua para consumo humano del corregimiento de Jaraquiel, Montería, Córdoba / Carlos Burgos Galeano; Álvaro Aleán Vásquez; Paula Estrada Palencia -- Capítulo 8. Optimización del sistema de abastecimiento de agua en la comunidad de Jaraquel, Montería Colombia / Carlos Burgos Galeano; Pedro Ramos Tejada; Paula Estrada Palencia; Jhon Sánchez Correa. -- Capítulo 9. Ejecución y sostenibilidad de proyectos productivos en la microrregión cafetera del municipio de Ciénaga, Magdalena / Sugey Issa Fontalvo; Eduardo Robles Panetta; Freddy González Castillo. -- Capítulo 10. Aplicación del método cualitativo por puntos para determinar aspirante favorito a cargos directivos en IES / Zamir Martelo Ballesteros; Raúl Martelo Gómez; Luis Tovar Garrido; Natividad Villabona Gómez; David Franco Borré. -- Capítulo 11 Responsabilidad social en comunidades indígenas orientada al diseño de automatización de válvulas del gasoducto Riohacha-Maicao / Gelvis Melo Freile; César Rivera Romero; Jesús García Guiliany. -- Capítulo 12 Fortalecimiento de la gestión económica de las Mipymes a través de la consultoría / Gloria Amparo Acosta Romero; Mónica Andrade Ríos; Karen Roxana Sánchez. -- Capítulo 13. El compromiso como valor en la responsabilidad social universitaria / Maura Quintero Gutiérrez, Dubys Villarreal Torres; Jesús García Guiliany; Annherys Paz Marcano; Marieth Orcasitas Peñaloza. -- Capítulo 14. Educación financiera como alternativa de desarrollo económico y social para el distrito de Riohacha / Henitzo Martínez Pinedo; Darcy Luz Mendoza; Martha Jaramillo Acosta; Edwin Salas Solano. -- Capítulo 15. Tecnologías de información y comunicación en proceso contable y financiero en pymes del sector turístico / Martha Josefina Castrillón Rois; Edilberto Rafael Santos Moreno; Lorena Esther Gómez Bermúdez; Génesis Barros González. -- Capítulo 16. Aplicación de brainstorming y problem trees para determinar factores que inciden en enseñanza del inglés / Jesús Llerena; Raúl J. Martelo; Jhon Cuesta; Javier Pinedo; David Franco.-- Capítulo 17. Incidencia del marketing en las microempresas del sector comercio en Rionegro Antioquia: conceptualización / Santiago Álzate Carmona; María Yamile Mazo Gil; Leidy García Jaramillo. -- Capítulo 18. Turismo en el Cabo de la Vela: un acercamiento entre los imaginarios turísticos de los visitantes y la creencia de Jepirra, territorio sagrado / María Laura Aponte Aarón; Esmerlis Camargo Torres. -- Capítulo 19. Caracterización de la actividad turística en buenaventura y su integración con las comunidades locales / Víctor Cándelo Aragón; Henry Orobio García; Luis Montaño Aguilar. -- Capítulo 20. Plataforma de comercialización electrónica de un centro de abastos / Karen Ávila Suarez; Mauro Reyes Ortiz. -- Capítulo 21. El teletrabajo en la gestión administrativa / Estefanía Sandoval Cruz; René Alexander Guerrero Vergel. -- Capítulo 22. Gestión del conocimiento y alianzas estratégicas en los procesos de innovación tecnológica / Elder Rivero Gutiérrez; Fátima Bolaño Mendoza. -- Capítulo 23. Competitividad e innovación en el aprendiz SENA: perspectivas de formación / Elizabeth Tuberquia Vanegas; René Alexander Guerrero Vergel. -- Capítulo 24. Bomba de riego por goteo solar, una alternativa para aumentar la eficiencia energética en las unidades acuícolas / Sergio Gabriel Brito Brito; Daldo Ricardo Araujo Vidal; Nicolás Annicharico Jiménez. -- Capítulo 25. Herramienta digital de consultas contables y tributarias para unidades productivas creadas en el fondo emprender / Elkin Fuentes Jiménez; Alda Pérez Campuzano; Marieth Orcasitas Peñaloza; Olga Elena Guerra ArmentaPrimera ediciónna347 página

International guidelines for the management and treatment of Morquio A syndrome

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc

International guidelines for the management and treatment of Morquio A syndrome.

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysosomal function. As quality of outcomes with current therapies is impacted by timing of intervention, minimizing time to diagnosis is critical. The objective of this study was to characterize how, when, and to whom patients with MPS first present and develop tools to stimulate earlier recognition of MPS. A tripartite approach was used, including a systematic literature review yielding 194 studies, an online physician survey completed by 209 physicians who described 859 MPS cases, and a global panel of MPS experts who distilled the findings. Red flag signs/symptoms were identified for cardiology, pediatric neurology, otorhinolaryngology, rheumatology, orthopedics, pediatrics, and general medicine and converted into simple, specialty-specific tools intended to facilitate early diagnosis of MPS, enabling improved patient outcomes