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1.
Cureus ; 16(8): e66380, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39247006

RESUMEN

Tubulointerstitial nephritis and uveitis syndrome (TINU) is a rare autoimmune disease. It is characterized by uveitis and kidney damage. The presentation of uveitis is typically anterior and bilateral, while the renal lesion is an acute interstitial nephritis. We report a case of an adolescent diagnosed with this disease, who presented with ocular and constitutional symptoms. An ophthalmologic examination confirmed the diagnosis of uveitis, and subsequent systemic evaluation revealed impaired renal function. The findings of the renal biopsy established the diagnosis after ruling out other systemic diseases. Given the rarity and nonspecific clinical presentation of this condition, a high level of suspicion is required for early diagnosis and treatment. Clinicians should consider this diagnosis in a pediatric patient with uveitis and impaired renal function.

2.
Cureus ; 16(2): e53646, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38449982

RESUMEN

INTRODUCTION: 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.

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