HC - MFR - Medicina Física e Reabilitação
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- 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.
- Complete Distal Rupture of the Rectus Femoris in an Elite Football Player: A Non-operative TreatmentPublication . Fernandes, A; Pinto, J; Cunha, P; Duarte, C; Estaca, A; Pereira, T; Bettencourt, M; Candelária, I; E Silva, MR
- Iliopsoas Grade 2 Myotendinous Junction Injury in an Elite Football Player: Return to Play ProcessPublication . Fernandes, A; Cunha, P; Silva, J; Duarte, C; Estaca, A; Bettencourt, M; Reis e Silva, MGroin pain is a common injury in professional footbal and widely acknowledged as a complex medical issue. Iliopsoas pathology stands as the second‐most common cause of athletic groin injury, yet iliopsoas traumatic muscle injuries are infrequent and inadequately documented in the literature. This case report outlines a grade 2 myotendinous junction injury of the iliopsoas in a football player competing in the Portuguese First League, combining an early rehabilitation protocol with ultrasound‐guided hematoma evacuation and LP‐PRP injection, enabling return to play 23 days after injury with no reported re‐injury over a period exceeding 12 months.
- Return to Play After the Diagnosis of Reactive Arthritis in a Professional Football PlayerPublication . Fernandes, A; Cunha, P; Pinto, J; Duarte, C; Estaca, A; Pereira, T; Bettencourt, M; e Silva, MR; Fernandes, SIn professional football, most of the injuries are traumatic; however, these athletes may suffer from rheumatologic diseases, that may present as sports-related injuries. Reactive arthritis (ReA) is classified as a sub-group of the spondyloarthritis family and is relatively rare. In this article, we highlight the successful return to play (RTP) process after the ReA diagnosis in an elite football player in the Portuguese first league. The athlete was able to RTP four months and one week after the diagnosis, had no ReA recurrence nor re-injury >8 months after RTP, and is playing at an elite level.