From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

Ochoa, Maria Fernanda; Yang, Ashlee; Kollias, Carrie; Bakir, Christina; Carsen, Sasha; Lazier, Joanna; Innes, A. Micheil; Page, Marika; Dawrant, Jonathan; Robinson, Marie-Ève; Koujok, Khaldoun; Shenouda, Nazih; Rauch, Frank; Ward, Leanne M.

doi:10.1016/j.bonr.2023.101663

Cited by 3 publications

(1 citation statement)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…ACAN gene (Aggrecan) is translated to a protein that is an essential component of the extracellular matrix of many tissues. The ACAN gene is particularly important in the formation and maintenance of cartilage [17]. Mutations in the ACAN gene lead to various skeletal disorders and conditions, including some forms of short stature and skeletal dysplasia.…”

Section: Discussionmentioning

confidence: 99%

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

del Real,

Cruz,

Sañudo

et al. 2024

IJMS

View full text Add to dashboard Cite

This study explores the genetic factors associated with atypical femoral fractures (AFF), rare fractures associated with prolonged anti-resorptive therapy. AFF are fragility fractures that typically appear in the subtrochanteric or diaphyseal regions of the femur. While some cases resemble fractures in rare genetic bone disorders, the exact cause remains unclear. This study investigates 457 genes related to skeletal homeostasis in 13 AFF patients by exome sequencing, comparing the results with osteoporotic patients (n = 27) and Iberian samples from the 1000 Genomes Project (n = 107). Only one AFF case carried a pathogenic variant in the gene set, specifically in the ALPL gene. The study then examined variant accumulation in the gene set, revealing significantly more variants in AFF patients than in osteoporotic patients without AFF (p = 3.×10−5), particularly in ACAN, AKAP13, ARHGEF3, P4HB, PITX2, and SUCO genes, all of them related to osteogenesis. This suggests that variant accumulation in bone-related genes may contribute to AFF risk. The polygenic nature of AFF implies that a complex interplay of genetic factors determines the susceptibility to AFF, with ACAN, SUCO, AKAP13, ARHGEF3, PITX2, and P4HB as potential genetic risk factors. Larger studies are needed to confirm the utility of gene set analysis in identifying patients at high risk of AFF during anti-resorptive therapy.

show abstract

Section: Discussionmentioning

confidence: 99%

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

del Real,

Cruz,

Sañudo

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

Somatropin

2023

Reactions Weekly

View full text Add to dashboard Cite

The Rising Popularity of Growth Hormone Therapy and Ensuing Orthopedic Complications in the Pediatric Population: A Review

Zverev,

Tenner,

Coladonato

et al. 2024

Children

View full text Add to dashboard Cite

The utilization of recombinant human growth hormone therapy in pediatric populations, originally approved to treat diseases of growth hormone deficiency, has expanded to encompass a broader range of indications, leading to a threefold increase in its utilization in the last two decades. However, concerns regarding its safety, particularly those that are orthopedic in nature, have grown alongside its increasing popularity. Growth hormone usage has been reported to predispose patients to a multitude of common orthopedic conditions, including carpal tunnel syndrome, Legg–Calve–Perthes disease, little league shoulder, Osgood–Schlatter disease, osteochondritis dissecans, scoliosis, Sever’s disease, and slipped femoral capital epiphysis. The pathways by which growth hormone therapy can precipitate orthopedic pathology has been shown to be multifactorial, involving mechanisms such as hormonal changes, growth plate instability, rapid growth, and increased susceptibility to overuse injury. This review examines the orthopedic consequences of growth hormone therapy in pediatric patients by discussing these potential pathophysiologic mechanisms of injury and analyzing subsequent clinical manifestations. By examining processes underlying these complications, we highlight the need for orthopedic surveillance and management in children receiving GHT, particularly those with pre-existing musculoskeletal comorbidities or high levels of physical activity. Our findings underscore the importance of a multidisciplinary approach involving co-management by pediatricians, endocrinologists, and orthopedic surgeons to optimize safety and outcomes for these patients. Directions for future research include correlating pathophysiologic mechanisms to injury patterns, investigating long-term complications in recently approved growth hormone therapy indications, and informing clinical guidelines on the management of orthopedic injuries in this patient population.

show abstract

From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

Cited by 3 publications

References 22 publications

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

Somatropin

The Rising Popularity of Growth Hormone Therapy and Ensuing Orthopedic Complications in the Pediatric Population: A Review

Contact Info

Product

Resources

About