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Objective: This study aims to evaluate the respiratory function of children and adolescents with osteogenesis imperfecta (OI) followed up at a referral center. Methods: A cross-sectional study was conducted with a non-probabilistic sample. Manovacuometry was performed with the measurement of maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP), and in addition, peak expiratory flow (PEF) and ventilometry were performed to measure forced vital capacity (FVC). Results: In total, 23 individuals were evaluated, with a mean age of 11.6±3.4 years, 56.5% of whom were females. Regarding the classification of OI, 56.5% of the sample belonged to type IV, 30.5% to type III, and 13% to type I. The mean MIP was 64.4% of the predicted, and the mean MEP was 56.2% of the predicted. Overall, the mean PEF was 213.9 L/min, but only 140.6 L/min in the OI type III group. Median FVC was 1.9 L, corresponding to 110% of the predicted. Conclusions: Respiratory function of the study subjects was altered, with respiratory muscle strength values lower than expected in the whole sample, and peak expiratory flow was significantly reduced in the OI type III group. [ABSTRACT FROM AUTHOR]

Objective: To describe the clinical and functional profile of children and adolescents with OI. Material and methods: Cross-sectional, observational and descriptive research, conducted through the analysis of the latest physical therapy assessment sheets attached to the medical records of patients treated at the Reference Center for the treatment of osteodenesis imperfecta in southeastern Brazil. Sample clinical data, body structures and functions of 141 individuals with various clinical forms of OI were analyzed. This project is linked to the study "Centro de Referência em Osteogênese Imperfeita - Protocolos clínicos e terapêuticos voltados para a Osteogênese Imperfeita", registered with CEP / IFF (No. 1,740,985; 2,777,502) as part of the National Registry of Osteogenesis Imperfecta. Results: Bisphosphonate group anti-resorption, disodium pamidronate, was the most used medication in all types of OI. The delay in gait acquisition, the use of haste, the balance deficit, the presence of deformities, the range of motion limitation, the number of fractures and the age of the first fracture were the variables analyzed by the interval according to the clinical severity of the disease. Conclusion: It is believed that knowledge regarding the functionality of patients with OI can prevent damage, promote health, facilitate or access appropriate and recommended treatment. [ABSTRACT FROM AUTHOR]

Objective: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. Methods: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Results: Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Conclusions: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures. [ABSTRACT FROM AUTHOR]

Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization.Methods: Cross-sectional study carried out in a university hospital that included seven patients with osteogenesis imperfecta and a control group of 17 healthy children of the same gender and age. Weight and height were measured and bioelectrical impedance was performed. Subsequently, the phase angle was calculated based on resistance and reactance values. Results: The phase angle of the group of children with osteogenesis imperfecta was significantly lower than that of the control group (p<0.05). The body mass index criterion for age of the World Health Organization showed no difference between groups. Conclusions: Children with osteogenesis imperfecta have a nutritional risk detected by the phase angle, which is a useful tool for nutritional screening. The calculation result could help in the diet therapy of patients with osteogenesis imperfecta. [ABSTRACT FROM AUTHOR]

Introdução: A osteogênese Imperfeita (OI) pode ser congênita, e pode ocasionar fraturas, ainda no útero materno; o que favorece a ocorrência de deformidades graves ao nascer. Objetivos: relatar o caso de uma portadora de OI, discutindo aspectos do seu desenvolvimento físico, motor e social. A entrevista foi conduzida a partir de consentimento livre e esclarecido. Descrição do caso: L.A.S 46 anos, solteira, residente em Imperatriz-MA, foi diagnosticada com OI, somente ao nascer. Segundo sua mãe, o diagnóstico tardio se deu em virtude da falta de conhecimento à época. Relatou que era comum escutar o barulho dos ossos quebrando quando a segurava em seus braços. L.A.S teve uma infância tranquila, no entanto, não concluiu o ensino fundamental devido às fortes dores, principalmente, na coluna. Em sua adolescência, apresentou comportamento agressivo, pois incomodava-se com a forma que as pessoas a observavam. Atualmente, tem uma vida relativamente normal e faz reposição diária de cálcio. Ressalta que não utiliza medicação específica pela dificuldade de acesso, na rede pública, e alto custo na rede privada. Relevância: Apesar de rara (1 a cada 25.000 nascidos vivos), a abordagem e conhecimento dessa doença é fundamental para promoção de uma melhor assistência e cuidado para estes pacientes. Comentários: Diante do exposto, é notória a necessidade da reformulação e direcionamento de políticas públicas de saúde que visem o acompanhamento e tratamento de pacientes portadores de OI. [ABSTRACT FROM AUTHOR]