Osteogenesis Imperfecta Research Articles

Characterization of hearing loss in pediatric patients with osteogenesis imperfecta

IntroductionOsteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46–58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss. Majority of these studies focus on the adult population. ObjectivesIdentify a relationship between OI and hearing loss in the pediatric population. MethodsThe TriNetx Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with a diagnosis of OI. Patients in this group with diagnosis of sensorineural, conductive, or mixed hearing loss were recorded. Patients with diagnoses of congenital cytomegalovirus, congenital inner ear malformations, and noise-induced hearing loss were excluded from analysis. ResultsOut of 3256 patients 18 years old or younger with OI, 10.07 % (95 % CI: 9.06–11.16) had a history of any form of hearing loss, 5.71 % (95 % CI: 4.94–6.57) had conductive hearing loss, 3.01 % (95 % CI: 2.45–3.66) had sensorineural hearing loss, and 1.35 % (95 % CI: 0.98–1.81) had mixed hearing loss. Relative risks for diagnosis of any type of hearing loss, conductive hearing loss, sensorineural hearing loss, and mixed hearing loss were calculated: 5.90 (95 % CI 5.32–6.53), 5.08 (95 % CI 4.42–5.84), 6.18 (95 % CI 5.09–7.51), and 13.86 (95 % CI 10.33–18.59) respectively. DiscussionThis study is the largest to date that describes a relationship between OI and conductive, sensorineural, and mixed hearing loss. Pediatric patients with OI are almost five times as likely to have any type of hearing loss. There was a significant increased risk in each subgroup, but conductive hearing loss was the most common for hearing loss in children with OI. The highest risk subtype when compared to controls was mixed hearing loss.

Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta

Osteogenesis imperfecta (OI)is a rare genetically heterogeneous disorder caused by changes in the expression or processing of type I collagen. Clinical manifestations include bone fragility, decreased linear growth, and skeletal deformities that vary in severity. In typically growing children, skeletal maturation proceeds in a predictable pattern of changes in the size, shape, and mineralization on the hand and wrist bones that can be followed radiographically known at the bone age. Assessment of bone age can be clinically used to assess time remaining for linear growth, and the onset and duration of puberty, both of which can be useful in determining the timing of some surgeries or the interpretation of other imaging modalities such as bone densitometry. Additionally, deviations in the expected maturation process of the bone age may prompt or assist in the work up of a significant delay or advancement in a child's growth pattern. The primary aim of our study was to determine whether the bone age in children with a skeletal disorder such as OI follow the same pattern and rate of bone maturation compared to a control population. Using participants from the Natural History Study of the Brittle Bone Disorders Consortium, we analyzed 159 left hand and wrist radiographs (bone age) for a cross-sectional analysis and 55 bone ages repeated at approximately 24 months for a longitudinal analysis of skeletal maturation. Bone ages were read by a pediatric endocrinologist and by an automated analysis using a program called BoneXpert. Our results demonstrated that in children with mild-to-moderate OI (types I and IV), the skeletal maturation is comparable to chronological age-mated controls. For those with more severe forms of OI (type III), there is a delayed pattern of skeletal maturation of less than a year (10.5 months CI 5.1–16) P = 0.0012) at baseline and a delayed rate of maturation over the two-year follow up compared to type I (P = 0.06) and type III (P = 0.02). However, despite these parameters being statistically different, they may not be clinically significant. We conclude the bone age, with careful interpretation, can be used in the OI population in a way that is similar to the general pediatric population.

Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype in OI patients with whole exome sequencing (WES). Multiplex-Ligation dependent Probe Amplification (MLPA) analysis of COL1A1 and COL1A2 and WES were performed on cases between the ages of 0 and 18 whose genetic etiology could not be determined before using a targeted next-generation sequencing panel, including 13 genes (COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, SP7, BMP1, MBTPS2, PLOD2) responsible for OI. Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50 %) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25 %) patients were considered to be type I, 7 (58.3 %) type III, and 2 (16.7 %) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50 %) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3 %) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes. This study demonstrates rare OI types' clinical and molecular features; genetic etiology was determined in 6 (50 %) 12 patients with the WES analysis. In addition, two variants in OI genes have been identified, contributing to the literature.

Functional Mobility Scale and Scoliosis Degree before and after Zoledronate Therapy in Children with Osteogenesis Imperfecta

Abstract Background Intravenous zoledronate, has been indicated for the treatment of Osteogenesis imperfecta (OI). It is a heritable disorder that causes bone fragility. The purpose of this study was to evaluate its effect on functional mobility scale and scoliosis degree on children with OI. Methods and Results This observational study was conducted on 28 OI patients (12 boys & 16 girls) aged 1.3-7.15years. All parameters were evaluated at Pediatric Endocrinology clinic, Children’s Hospital, Ain Shams University. Treatment was started with zoledronate dose 0.05 mg/kg every 6 months. Children less than 3 years of age received intravenous Zoledronate at a dose of 0.025 mg/kg per dose every 6 months with a maximum dose of 2 mg, while children above 3 years old received 0.05 mg/kg/dose every 6 months with a maximum dose of 4 mg. FMS and scoliosis degree using cobb anglewere evaluated before and after zoledronate therapy. Patients showed highly significant improvement in FMS. Patients with mild and moderate degree of scoliosis showed a non significant improvement in the degree of scoliosis while patients with severe scoliosis didn’t show any statistically significant difference. Conclusion Our study showed that intravenous zoledronate treatment, given once every 6 months, is an effective mode of treatment in OI children. It was associated with improvement in FMS. Longer follow-up is necessary to monitor the effect of treatment on degree of scoliosis by cobb angle.

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by recurrent fractures and deformities. In patients displaying the OI phenotype, genotype-phenotype correlation is used to screen multiple genes swiftly, identify new variants, and distinguish between differential diagnoses and mild subtypes. This study evaluated variants identified through next-generation sequencing in 58 patients with clinical characteristics indicative of OI. The cohort included 18 adults, 37 children, and 3 fetuses. Clinical classification revealed 25 patients as OI type I, three patients as OI type II, 18 as OI type III, and 10 as OI type IV. Fifteen variants in COL1A1 were detected in 19 patients, 9 variants in COL1A2 (n=19), 5 variants in LEPRE1/P3H1 (n=7), 3 variants in FKBP10 (n=4), 3 variants in SERPINH1 (n=2), 1 variant in IFITM5 (n=1), and 1 variant in PLS3 (n=1). In total, 37 variants (18 pathogenic, 14 likely pathogenic, and 5 variants of uncertain significance), including 16 novel variants, were identified in 43 (37 probands, 6 family members) of the 58 patients analyzed. This study highlights the efficacy of panel testing in the molecular diagnosis of OI, the significance of the next-generation sequencing technique, and the importance of genotype-phenotype correlation.

Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C>T p.Arg309Cys in the CREB3L1 gene. Treatment with regular pamidronate therapy showed increased bone mineral density and a reduced fracture rate. His lower limb rush rodding improved his mobility. His withdrawal from bisphosphonate therapy worsened his mobility status but started improving after he restarted treatment, suggesting a response to pamidronate therapy. We report a novel biallelic missense variant c.925C>T, p.Arg309Cys, in the CREB3L1 gene causing OI, which responded to bisphosphonate therapy and corrective surgery.

Efficacy of intraoperative use of tranexamic acid in reducing blood loss from telescoping nail application in osteogenesis imperfecta. A randomized controlled trial

BackgroundOsteogenesis imperfecta (O.I) is a rare disease caused by an abnormality in type 1 collagen synthesis leading to repeated fractures after low-energy trauma and progressive long bones deformity. Telescoping nail application and surgical correction of these deformities usually necessitates multiple osteotomies and significant bleeding occur due to weakened capillaries and impaired platelet activity. Tranexamic acid (TXA) has an antifibrinolytic effect which is useful in reducing bleeding and need for blood transfusions following several orthopaedic procedures. HypothesisThe use of intraoperative (Local and Intravenous) tranexamic acid reduces blood loss during femoral telescoping nail application in O.I. patients. Material and methodsA prospective randomized controlled study was carried out on 40 patients during applying femoral telescoping nail divided into Group A: (case TXA); 20 patients receiving intraoperative TXA and Group B: (control); 20 patients not receiving TXA. Blood loss and perioperative Hemoglobin (Hb) and Hematocrit Level (Hct) were assessed. ResultsThe study included 29 males and 11 females with mean age 7.98 years. The number of osteotomies in both groups ranged from zero to 3 osteotomies with a median one osteotomy. A significant decrease in blood loss was observed in TXA group (mean 241.5 cc) compared to control group (mean 461.5 cc). Postoperative Hb was significantly lower in control group (mean 12.30 g/dL changed to 10.45 g/dL) compared to TXA group (mean 12.26 g/dL changed to 11.52 g/dL). Also, postoperative Hct was significantly lower in control group (m:ean 37.37 % changed to 32.03%) compared to TXA group (mean 36.53 % changed to 34.66 %). DiscussionThe use of TXA during femoral telescoping nail application in OI patients has contributed to a remarkable reduction in overall blood loss. Consideration of adding it to management protocol is advised. Level of EvidenceII; Randomized Controlled Trial (RCT).

ECG abnormalities in chronic obstructive pulmonary disease exacerbation: can the ECG record still astound us? A prospective study

Introduction/objective Chronic obstructive pulmonary disease (COPD) is a pulmonary disease characterized by persistent respiratory difficulties and impaired airflow. COPD patients have a higher risk for lung infections, like the flu or pneumonia, lung cancer, heart problems, weak muscles, brittle bones, depression, and anxiety. The purpose of this study was to estimate the prevalence of ECG abnormalities in patients with COPD experiencing exacerbations. Patients and methods The research encompassed a cohort of 832 individuals diagnosed with COPD who encountered episodes of exacerbations. Five hundred seventy-five (69.11%) of the included participants were women, and 257 (30.89%) were men. The included participants ranged from 18 to 60 years old. It was ensured that none of the participants had received any treatment for their condition for more than 3 days. Results Based on the level of exacerbation severity, the patient population is categorized into three distinct groups: moderate, comprising 330 (39.66%) individuals; severe, encompassing 406 (48.79%) individuals; and extremely severe, consisting of 96 (11.53%) individuals. During episodes of exacerbation in patients with COPD, the following ECG alterations were observed: a QTc less than 0.40 s in 99.15% of cases, a transitional ECG zone in 74.33% of cases, a P more than 2.5 mm in 45.67% of cases, an axis deviation towards the second quadrant (axis II) in 28% of cases, an incomplete right bundle branch block in 26.32% of cases, and a full right bundle branch block in 25.60% of cases. Conclusion Regardless of prior cardiac pathology, ECG is a low-cost, quick, and dependable modality for detecting ischemic changes in people experiencing a flare-up of COPD.

The genetic landscape of osteogenesis imperfecta: mutational mechanisms and therapeutic targets

Osteogenesis imperfecta is colloquially known as brittle bone disease because it is an inherited disease characterized by a connective tissue disorder that causes decreased bone mass, increased bone fragility and abnormalities in skeletal structure. This disease is caused by a mutation in the type I collagen genes, specifically COL1A1 and COL1A2, resulting in a variety of clinical manifestations ranging from mild to lethal. The impact on the quality of life of patients with OI can be complicated, which is why they need multidisciplinary management strategies including orthopedic care, physical therapy, pain management and surgical interventions.

National Trends in Inpatient Hospital Outcomes of Children with Osteogenesis Imperfecta and the Importance of Extraskeletal Manifestations: A Kids’ Inpatient Database Study

ObjectiveTo investigate the extent of extra-skeletal manifestations along with inpatient outcomes and complications associated with osteogenesis imperfecta (OI). Study designThis cross-sectional study utilized the Kids’ Inpatient Database (KID) as part of the Healthcare Cost and Utilization Project (HCUP) to investigate inpatient hospital outcomes and management in patients with OI from 1997 through 2016. Data regarding hospital characteristics, cost of treatment, inpatient outcomes, and procedures were collected and analyzed. ResultsThere were 7,291 admissions that listed OI as a diagnosis in the KID database from 1997 through 2016. Unexpectedly, over one third of all admissions in these children with OI presented with an extra-skeletal manifestation. The rate of major complications was 3.85%. The rate of minor complications was 19.4%, most commonly respiratory problems. Mortality rate was 18.2 % in the neonatal period and 1.0% in all other admissions. Total charges of hospital stay increased over the years. ConclusionWe identified a striking prevalence of extra-skeletal manifestations in OI along with inpatient outcomes and complications associated with OI, of which respiratory complications were predominant. We observed a significant financial burden for patients with OI and identified additional risks for financial crisis, in addition to disparities in care identified among socioeconomic groups. These data contribute to a more holistic understanding of OI from diagnosis to management.

Anesthetic Management of Femur Fracture in a Pediatric Patient with Osteogenesis Imperfecta

Anesthetic Management of Femur Fracture in a Pediatric Patient with Osteogenesis Imperfecta

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85-90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.In this study, we investigated the clinical characteristics of 38 patients with a bone fragility disorder that had variants in non-COL1A1/COL1A2 genes in order to study genotype-phenotype correlations, as the natural history of these rare forms is still not well known. We then studied the usefulness of bisphosphonate treatment by evaluating the effects on LS BMD, annual non-vertebral fracture rate, bone turnover markers and height. This study enabled us to better define the natural history of patients with non-COL1 pathogenic variants. Patients with CRTAP and TMEM38B variants consistently had a prenatal presentation with a short (<3rd p) and bowed femur. Importantly, this prenatal involvement does not predict the postnatal severity of the disease. Regarding treatment by bisphosphonates, all patients showed a significant increase in LS BMD while treated and this increase was dependent on the dose received. The increase in LS BMD also translated in a reduction of fracture rate during treatment. Finally, our study showed that the earlier bisphosphonates are initiated, the greater the fracture rate is reduced.

Surgical treatment of scoliosis in patients with osteogenesis imperfecta: a single institution case series.

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by skeletal deformities, bone fragility, and spinal complications. Various studies' insights underscored the impact of scoliosis on pulmonary function, positive outcomes with spinal fusion, and improved functional abilities post-surgery. However, partial loss of correction remains inevitable. This study examines six surgically treated OI patients with scoliosis. Surgical intervention using a posterior approach with pedicle screws and hooks aimed to correct spinal deformities. Preoperative, postoperative, and follow-up radiological assessments were conducted, revealing significant reductions in scoliotic angles post-surgery. Complications included infections and proximal junctional kyphosis requiring revision surgeries. Despite the challenges posed by poor bone quality and implant stability, no implant failures occurred in this series. Ponte osteotomies at the apex of deformity aided in corrective maneuvers. Surgical treatment of scoliosis in patients affected by OI is challenging and may be associated with perioperative and postoperative complications. Ponte osteotomy may improve the correction and reduce necessary force at the time of correction.

Zoledronic acid: challenges and pitfalls amid rehabilitation in primary osteoporosis and beyond

Zoledronate (or zoledronic acid) represents a standard (guideline-based) approach in the area of anti-resorptive medication (namely, an annual 15-minute perfusion of 5 mg for os-teoporosis treatment), while the same drug (with doses/regimes variations) is used for other bone metabolic conditions such as Paget’s disease of the bone or skeleton metastasis originating from different cancers. The objective of this narrative review was to highlight the most recent published data with respect to zoledronic acid use as part of the complex clinical management amid primary osteoporosis in addition to other osteo-metabolic clin-ical entities. This was a research based on exploring PubMed database with respect to the search words “zoledronic acid” and “primary osteoporosis”. We included highly relevant (from the clinical perspective), English-published, full-length articles that have been re-cently published (between January 2023 and March 2024). From 249 results, 31 articles met the inclusion timeline criteria across the 15-month analysis and the final results were based on data provided from 16 articles. Important insights concern not only the zoledronic acid administration, the efficacy and the safety profile, but, also, an extension on daily indications with concern to diabetic bone disease, liver osteodystrophy, osteogen-esis imperfecta or Paget’s disease of the bone. Keywords: osteoporosis, rehabilitation, zoledronic acid, DXA, hypercalcemia, bone, surgery, prosthesis, Paget’s disease of the bone, liver osteodystrophy

Changes in serum bone turnover markers and bone mineral density Z-score in children with osteogenesis imperfecta after zoledronic acid treatment.

The study aimed to investigate the changes in the levels of serum bone turnover markers (BTMs) and bone mineral density (BMD) Z-score in pediatric patients with osteogenesis imperfecta (OI) after intravenous bisphosphonate therapy and their association with age and estimated glomerular filtration rate (eGFR). This retrospective study analyzed data from 10 pediatric OI patients treated with intravenous zoledronic acid for over 1 year. Patients' clinical data were collected. The levels of BTMs and BMD Z-score before and after zoledronic acid treatment were analyzed. Significant improvement in BMD Z-score was observed after 6 and 12 months of treatment compared to baseline (all p < 0.05). The N-terminal propeptide of type I procollagen (PINP) levels decreased over time (all p < 0.05), indicating that zoledronic acid treatment decreased bone turnover. The levels of beta-C-terminal telopeptide of type I collagen remained stable after treatment. No correlation was found between PINP level and age, eGFR, or BMD (all p > 0.05). Bisphosphonate treatment can improve BMD and decrease bone turnover (indicated by decreased levels of PINP) in pediatric OI patients. PINP may serve as an independent indicator for monitoring the efficacy of bisphosphonate treatment in pediatric OI patients, particularly in those under the age of 6, where standardized BMD Z-score criteria are lacking.

Low muscle density in children with osteogenesis imperfecta using opportunistic low-dose chest CT: a case-control study

BackgroundThe aim of the study was to investigate the muscle differences in children with osteogenesis imperfecta (OI) using opportunistic low-dose chest CT and to compare different methods for the segmentation of muscle in children.MethodsThis single center retrospective study enrolled children with OI and controls undergoing opportunistic low-dose chest CT obtained during the COVID pandemic. From the CT images, muscle size (cross-sectional area) and density (mean Hounsfield Units [HU]) of the trunk muscles were measured at the mid-T4 and the mid-T10 level using two methods, the fixed thresholds and the Gaussian mixture model. The Bland-Altman method was also used to compute the strength of agreement between two methods. Comparison of muscle results between OI and controls were analyzed with Student t tests.Results20 children with OI (mean age, 9.1 ± 3.3 years, 15 males) and 40 age- and sex-matched controls were enrolled. Mean differences between two methods were good. Children with OI had lower T4 and T10 muscle density than controls measured by the fixed thresholds (41.2 HU vs. 48.0 HU, p < 0.01; 37.3 HU vs. 45.9 HU, p < 0.01). However, children with OI had lower T4 muscle size, T4 muscle density, T10 muscle size and T10 muscle density than controls measured by the Gaussian mixture model (110.9 vs. 127.2 cm2, p = 0.03; 44.6 HU vs. 51.3 HU, p < 0.01; 72.6 vs. 88.0 cm2, p = 0.01; 41.6 HU vs. 50.3 HU, p < 0.01, respectively).ConclusionsChildren with OI had lower trunk muscle density indicating that OI might also impair muscle quality. Moreover, the fixed thresholds may not be suitable for segmentation of muscle in children.

Current situation of osteogenesis imperfecta in Spain: results from a Delphi study

BackgroundOsteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of fractures, and skeletal and extra-skeletal symptoms that results in an impairment of health-related quality of life of OI patients. Since published studies on OI in Spain are limited, this study aimed to determine the epidemiology, assessed the disease burden, management and unmet needs of OI patients in Spain. Thirty-four experts in the management of patients with osteogenesis imperfecta completed two rounds of online consultation and reported real-life experience and data from Spanish hospitals. Delphi study questionnaires were based on literature review. A working group of nationally recognized clinical experts supported the development of the study questionnaires and the final validation of results.ResultsThe estimated prevalence of patients diagnosed with OI in Spain is 0.56:10,000 inhabitants (95%CI: 0.54–0.59), which represents that, approximately, 2,669 OI patients are currently managed in Spanish hospitals. It is estimated that approximately 269 new patients would be diagnosed with OI each year in Spain, representing an estimated incidence of 0.06 (95%CI: 0.05–0.06) per 10,000 inhabitants per year. Clinical management of OI in Spain is performed by a range of medical specialists; however, multidisciplinary care is not fully implemented. The absence of an approved curative treatment or a treatment to reduce the clinical features of the disease remains the main unmet need.ConclusionsThis study provides a snapshot of the current situation of patients with OI in Spain reported by clinical experts. The results provide an estimation of the epidemiology of the disease, and complement the available evidence on disease burden, clinical management, and unmet needs of these patients in Spain.

Nutritional Behavior of Patients with Bone Diseases: A Cross-Sectional Study from Austria.

A balanced diet rich in calcium and protein is recommended for bone-healthy people and osteoporosis patients, but it may also be important for rare bone disease (RBD). Little data is available on RBD and diet. Therefore, the aim of this study was to evaluate the nutritional behavior of patients with RBD. This single-center, cross-sectional, questionnaire-based study assessed the nutritional behavior of RBD patients (X-linked hypophosphatemia (XLH), osteogenesis imperfecta (OI), hypophosphatasia (HPP)), osteoporosis (OPO) patients and healthy controls (CTRL). The nutritional questionnaire comprised 25 questions from seven nutritional areas. The associations between socioeconomic factors and BMI were assessed by age-adjusted univariate analysis of covariance (ANCOVA). Fifty patients with RBD (17 OI, 17 HPP, 16 XLH; mean age of 48.8 ± 15.9, 26.0% male, mean BMI 26.2 ± 5.6), 51 with OPO (mean age 66.6 ± 10.0, 9.8% male, mean BMI 24.2 ± 3.9) and 52 CTRL (mean age 50.8 ± 16.3, 26.9% male, mean BMI 26.4 ± 4.7) participated. Twenty-six (52.0%) RBD, 17 (33.4%) OPO and 24 (46.1%) CTRL were overweight or obese according to BMI. Only a minority of RBD, OPO and CTRL had a daily intake of at least three portions of milk or milk products (17.3% RBD, 15.6% OPO, 11.6% CTRL, p = 0.453). In general, similar nutritional behavior was observed between the three subgroups. However, significant differences were found in caffeine consumption (p = 0.016), fruit/vegetable juice consumption (p = 0.034), portions of fish per week (p = 0.044), high-fat meals per week (p = 0.015) and consumption of salty snacks (p = 0.001). Nutritional counseling, controlling BMI and ensuring sufficient calcium and protein intake are crucial in patients with osteoporosis as well as in rare bone diseases. Vitamin D does not appear to be sufficiently supplied by the diet, and therefore supplementation should be considered in patients with bone diseases.

Prevalence, number of fractures, and hospital characteristics among the pediatric population with osteogenesis imperfecta: results from the nationwide registry of Türkiye.

Osteogenesis imperfecta is a rare connective tissue disorder with an estimated number of 4-20 cases per 100 000 inhabitants. Although the prevalence differs among regions, there are only a few number of national registry studies published previously. The aim of this study was to determine the prevalence of osteogenesis imperfecta among the pediatric age group in Türkiye, together with the patient and hospital characteristics. Via the e-health database of the Turkish Ministry of Health, we collected and retrospectively evaluated the medical records of the patients who were under 18 years of age with the diagnosis of osteogenesis imperfecta between 2016 and 2022. Total number of fractures, treatment modalities, and the hospital characteristics were also recorded. Two thousand seven hundred forty patients were extracted with a mean age of 9.77 ± 4.81 years. The prevalence of osteogenesis imperfecta in Türkiye among the pediatric population was calculated as 11.6 per 100 000 individuals. The median annual incidence was 31.5 per 100 000 live births between 2016 and 2022. There were 17.4 hospital admissions per patient per year. The mean age at the time of in-hospital mortality was 4.08 ± 5.03 years. The fracture rate per patient per year was 0.56 and conservative treatment was the most commonly preferred modality for all ages. This is the first registry-based nationwide study of osteogenesis imperfecta patients in Türkiye, providing important characteristics of the disease. Together with the help of the ongoing development of national health database systems, precision in patient identification would yield substantial benefits in terms of management of osteogenesis imperfecta.

PCR124 Burden of Fracture and Fracture Management Among Individuals with Osteogenesis Imperfecta: Results from a Survey of Adults and Caregivers

PCR124 Burden of Fracture and Fracture Management Among Individuals with Osteogenesis Imperfecta: Results from a Survey of Adults and Caregivers