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Cortical Bone Assessment Using Ultrasonic Guided Waves: A Reproducibility Study in a Healthy Population
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Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series.
Andrei Costache1, Anca-Lelia Riza2,3, Mihaela Popescu4
1Department of Biophysics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Biomedicines
|April 29, 2025
Summary
This study highlights the diagnostic challenges and genetic basis of Osteogenesis Imperfecta (OI) in Romanian patients. Genetic variants in COL1A1 and COL1A2 genes were identified, emphasizing the need for personalized treatment approaches.
Area of Science:
- Genetics
- Connective Tissue Disorders
- Pediatric and Adult Medicine
Background:
- Osteogenesis Imperfecta (OI) is a rare inherited connective tissue disorder.
- Clinical diagnosis is common, but genetic testing aids confirmation.
- OI presents with significant clinical heterogeneity.
Purpose of the Study:
- To present a case series of type I OI in Romanian patients.
- To showcase diagnostic and management challenges in pediatric and adult OI cases.
- To contribute to the understanding of the genetic landscape of OI.
Main Methods:
- Nine patients with OI were referred to a Regional Centre for Medical Genetics.
- Genetic testing was performed using the Illumina® TruSight™ One kit.
- Clinical data including fracture history, stature, and sclerae color were collected.
Main Results:
- Most patients exhibited blue sclerae, frequent fractures, and reduced stature.
- Genetic variants were identified in COL1A1 and COL1A2 genes in seven cases.
- Significant clinical variability was observed, even among patients with identical genetic variants.
Conclusions:
- The study expands the knowledge of OI genetic variants in the Romanian population.
- Tailored surgical and rehabilitation programs are crucial for improving patient quality of life.
- Further research with larger cohorts and advanced genetic techniques is recommended.
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