Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here we report three cases of OI type IV in adults. Skeletal conventional X-rays were performed to all patients and all of them has similar results such as bowing deformities of long bones, old union and some non-union fractures with extreme angulation and severe osteoporosis. OI are classified based on skeletal structure, sclera colorization, dentinogenesis, and functional metabolic defect genetically. OI type I and IV can live until adults; also, the same type of OI can be found in siblings. Skeletal conventional X-rays can solely make the diagnosis

Clinical Features and Outcome in Children With Primary Hyperoxaluria; Single Center Experience

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Dental Manifestations of Pediatric Bone Disorders

Purpose of Review Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental–oral manifestations: fibrous dysplasia, Paget’s disease, osteogenesis imperfecta, renal osteodystrophy, hypophosphatasia, and osteoporosis. The specific intraoral characteristics will reviewed in detail. Recent Findings Recent studies confirmed the close relationship between the mandible and the maxilla with the most prevalent systemic bone disorders in children. Summary This review will help practitioners to integrate the oral health into the systemic health and improve the multidisciplinary approach of pediatric patients between medicine and dentistry

Intervenção da fisioterapia em crianças com paralisia cerebral: revisão bibliográfica

Projeto de Graduação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Licenciada em FisioterapiaIntrodução: A paralisia cerebral (PC) é um grupo de afeções do sistema nervoso central da infância que não tem carácter progressivo e que apresenta clinicamente distúrbios da motricidade. Assim, a intervenção da fisioterapia terá uma enorme importância para o desenvolvimento da criança. Objectivo: Este estudo serve para perceber qual a melhor forma de intervenção fisioterapêutica para o tratamento de uma criança com PC. Metodologia: Foi realizada uma pesquisa bibliográfica recorrendo às bases de dados, B-on, Pubmed e PEDro , incluindo, artigos de livre acesso, estudos randomizados controlados, estudos realizados em humanos, idioma português ou inglês, com classificação igual ou superior a 5 na classificação de PEDro. Resultados: 104 617 encontrados, dos quais 7 foram incluídos nesta análise de acordo com os critérios de inclusão. Conclusão: Foi possível concluir, segundo diferentes autores, que existem várias técnicas de intervenção que trazem melhoria para as crianças com PC.Introduction: Cerebral Palsy (CP) is a group of children central nervous system disorder that is not progressive and represents clinically motor disorders. The intervention of physiotherapy will be very importante for the development of the child. Objective: This study serves to understand the best form of physiotherapeutic intervention for the treatment of a PC child. Methodology: A bibliographic search was carried out using B-on, Pubmed and PEDro, including articles of free access, randomized controlled trials, from human subjects, namely, portuguese or english children, with a rating of 5 or higher in classification from PEDro. Results: 104617 were found, of wich 7 were included in this analysis according to the inclusion criteria. Conclusion: It was possible to conclude that according to different authors, there are several intervention techniques that bring improvement for children with CP.N/

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mutation, which leads to bone strength impairment. In most cases OI is a disorder with an autosomal dominant inheritance. However, there are also cases of autosomal recessive inheritance. To date, 16 types of OI are distinguished, with type 2 being the most severe due to 100% mortality rate in neonatal and perinatal periods. XLH is characterized by altered bone mineralization due to impaired phosphorus absorption and reabsorption, as a result of mutations in the PHEX gene. The bone tissue softens, and this process is accompanied by deformities in long tubular bones. In this article we describe the family, in which both diseases are presented, despite their rarity. The case is investigated from points of view: the clinicians and the patients perspective

Os efeitos da vibração do corpo inteiro no desenvolvimento motor de crianças com paralisia cerebral

Introdução: pacientes com Paralisia Cerebral apresentam atrasos no desenvolvimento motor por alterações no seu movimento, postura e sistema musculoesquelético. O treinamento de vibração do corpo inteiro pode ser uma nova modalidade terapêutica para seu tratamento. Objetivo: avaliar os efeitos da vibração do corpo inteiro em plataforma vibratória, no desenvolvimento motor de crianças com paralisia cerebral por revisão sistemática de ensaios clínicos randomizados. Método: utilizou-se as palavras-chaves: “paralisia cerebral, vibração do corpo inteiro e desenvolvimento motor” nas bases de dados MEDLINE, PEDro, Cochrane CENTRAL e EMBASE entre 1970 até agosto de 2018. Incluíram-se ensaios clínicos randomizados que avaliaram o efeito da plataforma vibratória com outras intervenções fisioterapêuticas e outras intervenções fiioterapêuticas em crianças com paralisia cerebral. Excluiram-se estudos com (1) indivíduos sem paralisia cerebral; (2) sujeitos maiores de 18 anos; (3) terapias vibracionais que não em plataforma vibratória. O desfecho avaliado foi o desenvolvimento motor através da avaliação da função Motora Grossa. Resultados: de 664 artigos identificados, três artigos foram incluídos. Um artigo comparou a plataforma com fisioterapia convencional (12 semanas) com melhora nos grupos intervenção e controle na dimensão D (em pé). Na dimensão E (caminhando, correndo e pulando) houve aumento no grupo intervenção. Outro ensaio comparou a plataforma com um programa de fisioterapia escolar (24 semanas) e não houve diferença entre os grupos. O último estudo comparou a terapia de plataforma domiciliar com cuidados básicos de fisioterapia (24 semanas) observou que a função Motora Grossa. aumentou em ambos os grupos, sem diferença entre os grupos. Conclusão: não foram encontradas evidências suficientes de que a terapia de plataforma vibratória promova efeitos adicionais a fisioterapia convencional na melhora da função motora grossa e desenvolvimento motor de crianças com paralisia cerebral

Abordaje fisioterapéutico de la marcha en pacientes pediátricos con espina bífida. Revisión bibliográfica

Introducción: la espina bífida (EB) es un defecto congénito producido por un cierre incompleto o fallo en el cierre del canal medular, cuya causa es desconocida. Se desencadena por un desarrollo incompleto de los arcos vertebrales durante el periodo embrionario. A nivel del abordaje fisioterapéutico, existen varios procedimientos para reeducar la marcha. Justificación: se plantea realizar una revisión bibliográfica acerca de la eficacia de fisioterapia enfocada en la marcha de los pacientes pediátricos con EB, debido a la importancia de la deambulación en las AVDs y la poca investigación del tema. Objetivo: analizar la evidencia científica sobre los diferentes abordajes fisioterapéuticos para el tratamiento de la marcha en niños con EB. Material y métodos: se han realizado búsquedas bibliográficas acerca de la EB y el uso de la fisioterapia en la marcha en las siguientes bases de datos: Medline (Pubmed), PEDro, Scielo y Medes. Finalmente, tras aplicar los criterios de selección y examinarlos detalladamente, se han utilizado 7 artículos para la realización de este trabajo. Resultados y discusión: pese a las limitaciones encontradas a nivel de los estudios, los artículos seleccionados en esta revisión apoyan el uso de tecnologías robóticas, tapiz rodante, ayudas ortésicas, hidrocinesiterapia y entrenamiento neuromuscular como tratamientos a nivel de la marcha en pacientes con EB, ya que permite conseguir una mayor independencia, fortalecer la fuerza muscular preservada, mejorar los parámetros de la marcha, potenciar la función motora gruesa, evitar posibles complicaciones y poder realizar actividades cotidianas. Conclusión: el tratamiento fisioterápico es efectivo, seguro y útil para conseguir la mejora de la deambulación de los pacientes pediátricos con EB, de forma lo más funcional e independientemente posible. Son necesarias futuras investigaciones que establezcan un protocolo de estandarización sobre las intervenciones fisioterapéuticas, valoraciones más homogéneas, tamaños de muestra mayores y evaluaciones de los resultados a corto y largo plazoGrado en Fisioterapi

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is the most frequently occurring congenital disorder with an increased fracture rate and systemic skeletal involvement. The vast majority of patients have an autosomal dominant form of OI resulting from a mutation in one of the two type I collagen genes COL1A1 or COL1A2. Since 2006, eight genes for autosomal recessive forms of the disorder have been identified, as well as one additional gene for autosomal dominant OI. Our knowledge concerning molecular pathophysiology has been substantially broadened, such that the paradigm of OI as a pure collagenopathy no longer applies and the clinical classification system will have to be revised. Standard therapy for the more severe forms of OI comprises intravenous administration of bisphosphonates. Additional elements of a multimodal therapeutic concept include surgical intervention for bone deformities or fractures and physiotherapy

Hereditary skeletal diseases. Special aspects of diagnostics, treatment and transition

Hereditary skeletal disorders are rare but have a huge impact on patients and require a multidisciplinary medical care. A differentiation is made between diseases affecting bone matrix production (e. g. osteogenesis imperfecta) and those with defects in mineralization. The latter are separated into those where insufficient substrate is available (e. g. rickets) and those with a diminished function of alkaline phosphatase (e. g. hypophosphatasia). The diagnostics of diseases affecting collagen formation are mainly based on the clinical findings and radiographs, in comparison to mineralization defects where laboratory findings are important. Due to the complexity and diversity of the symptoms, therapy has to be undertaken by a multidisciplinary team coordinating all forms of treatment. For pediatric patients this is mostly localized in Sozial Padiatrischen Zentren. In most cases the medical treatment is purely symptomatic and the drugs used are neither approved nor internationally standardized; therefore, the off-label treatment should be conducted in specialized centers. The needs of patients are different during transition because in cases of synthesis defects with the culmination of growth and puberty a long period with few complaints begins and consequently a lack of contact with physicians, resulting in a loss of continuity of medical care. In contrast patients with mineralization defects need continuous medical care and there is a closer association with physicians; however, there are only relatively few physicians specialized in the treatment of adults and interdisciplinary treatment is not well established. A treatment structure similar to that in Sozial Padiatrischen Zentren would be desirable and in the future could be achieved by Centers for Rare Diseases

Pathophysiology and Therapy for Patients with Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is the most frequent hereditary bone disease during childhood. In most cases OI is caused by mutations affecting collagen production. Phenotypes of patients differ substantially and there is no clear genotype-phenotype correlation. Main symptom is an increased fracture rate due to inadequate traumata. Additionally, extra-skelettale signs like muscle hypotonia and hearing impairments are frequently reported. The multimodular therapy includes surgical procedures to treat fractures and to correct deformities. During childhood drug therapy is limited to the use of bisphosphonates. Other antiresorptive drugs like Denosumab are currently under investigation. After end of growth osteoanabolic agents like Teriparatide or Antisclerostin can be used. Most important is a regular training including physiotherapy and rehabilitation. To coordinate these therapies the care of the patients need to be centralized. Such a treatment in specialized centers will allow to learn more about natural history of the disease and to improve the care