Browsing by Author "Pires, MS"
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- An Analysis From a Tertiary Pediatric Hospital: Does Physical Activity Play a Role in the Management of Children and Young Adults With Osteogenesis Imperfecta?Publication . Galhardo Saraiva, F; Jonet, J; Roquette, M; Ovídio, J; Pires, MS; Lameiras Campagnolo, JIntroduction: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by reduced bone density and increased proneness to fractures. It manifests across a varied clinical spectrum of expressions in children and young adults. It is crucial for children with OI to have a multidisciplinary follow-up, including orthopedics, pediatrics, and physical medicine and rehabilitation. Although exercise may have no effect on the disease itself, it might improve the autonomy, self-esteem, and fitness of these children. Methods: Retrospective cohort analysis of children and young adults aged three or more years old followed-up in a Level III Pediatric Hospital between 1995 and 2020. Demographic and clinical data were obtained from the hospital records and from the caregivers via phone calls. To our knowledge, this is the first national case series published assessing exercise habits in children with this condition. Results: Among the 21 patients studied, the median age was 14 years, with no gender predominance. Eighteen (86%) practiced regular physical activity, while the remaining three (14%), all of whom were type III OI, were totally dependent. Of the aforementioned 18 children, 12 (67%) considered practicing the same level of physical activity compared to their healthy peers, although most of them needed adaptations. The most reported extracurricular activity was swimming, in 50% of the cases. About 39% engaged in physical activity two times or less per week, and 89% practiced for one hour or less per session. Discussion: Over the years, it has become clear that physical activity is an important part of OI management. While awareness of the importance of exercise already exists, proper planning, follow-up, and monitoring are essential.
- Chondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2)Publication . Hatia, M; Roxo, D; Pires, MS; Moeda, FChondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging. Genetic testing using whole exome sequencing (WES) based on next-generation sequencing (NGS), targeting a panel of genes associated with skeletal dysplasia, revealed a loss-of-function variant in the emopamil-binding protein (EBP) gene. The child received multidisciplinary care from a team composed of orthopedy, dermatology, and physical medicine and rehabilitation doctors, aimed at promoting motor development and managing the condition's complexities. This study underscores the importance of early diagnosis and a comprehensive treatment approach to enhance the quality of life for individuals with CP, while also highlighting the need for increased awareness of such rare genetic disorders among healthcare professionals. Ongoing research into genetic therapies offers hope for future advancements in treatment options.