Growth and Pubertal Features in a Cohort of 83 Patients with Osteogenesis Imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones and variable short stature. METHOD: We performed a retrospective cohort study to evaluate demographic data, clinical findings, growth and pubertal characteristics, and medical treatment of 83 OI patients. RESULTS: 83 (31 female/52 male) patients were enrolled in the study. The median follow-up duration was 4.7 (0.6-17.7) years. 51 out of 83 patients (61.4%) received bisphosphonate therapy. The median Z-score of the bone mineral density improved in patients with OI-I and OI-III with the treatment. During follow-up, height-SDS significantly increased in both OI-I and OI-III on treatment; however, final adult height SDS of patients did not improve. The frequency of overweight and obesity was found to be increased at the last evaluation compared to the admission. The rate of precocious puberty (PP) and early puberty (EP) were 20 and 10% in girls, and they were 15.7 and 47.3% in boys, respectively. CONCLUSION: Reduced growth, significant weight gain over time due to impaired mobility, and high frequency of PP/EP require effective interventions to improve mobility and functional parameters as early as possible in children with OI.

How pulmonary function changes after pectus excavatum correction surgery.

AIM: We aimed to determine the effects of minimally invasive repair of pectus excavatum on pulmonary function and quality of life. METHODS: Minimally invasive pectus excavatum repair was undertaken in 80 patients with a mean age of 16.91 ± 4.37 years (range 7-30 years) and a mean Haller index of 4.07 ± 1.39; 85% of the patients were male. They and their parents completed the Nuss Questionnaire Modified for Adults, and pulmonary function tests were performed on the patients before and 6 months after the operation. RESULTS: The mean Nuss score was 31.06 ± 6.78 before the operation and it increased to 37.1 ± 8.31 (p = 0.000) 6 months after the operation. Forced vital capacity decreased from 3.70 ± 1.23 to 3.48 ± 1.03 L (p = 0.05) postoperatively. The percentage of expected forced vital capacity decreased from 83.21% ± 16.97% to 76.52% ± 20.98% (p = 0.01). There was no significant change in forced expiratory volume in 1 s. The mean ratio of forced expiratory volume in 1 s to forced vital capacity was 86% preoperatively and it increased to 91% postoperatively (p = 0.000). CONCLUSIONS: Minimally invasive pectus excavatum repair has a positive impact on the quality of life of pectus excavatum patients, but a negative impact on forced vital capacity. Follow-up studies are needed to assess the long-term changes in pulmonary function after this operation.