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

OBJECTIVE: 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. METHODS: 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 ±â€…4.81 years. RESULTS: 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 ±â€…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. CONCLUSION: 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.

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear. Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation. Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (r = 0.539, p = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (r = 0.361) or the time of first nusinersen dose (r = 0.39) was not significant (p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores. Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

The burden of scoliosis: a nationwide database study on demographics, incidence, and surgical rates.

INTRODUCTION: Scoliosis is characterized as a three-dimensional deformity of the spine, affected by variety of factors, including biological, mechanical, hormonal, and genetics. METHODS: Our study's primary objective was to delineate the demographics, incidence, and prevalence of scoliosis from a nationwide perspective, analyze the surgical intervention rates, with the aim of offering more insightful guidance to orthopedic physicians. This nationwide cohort study was conducted from digital database for healthcare information management. Relevant population data, for children under 18 years old, was extracted from the official government census within the period of January 2015 to December 2022. Utilizing diagnostic code of M41 [Scoliosis] was used to define the patient pool from ICD-10. Demographic variables, type of operations (posterior only, anterior only, or combined), and complications were documented. Incidence and prevalence values were calculated using population figures and case numbers. RESULT: There were 276,521 patients with an average incidence of 129 per 100,000. Frequency of females was 1.45 times greater than that of males (p < 0.001). A total of 10,417 surgeries were performed in 10,311 patients during the inspection period (3.8% of all cases). Posterior fusion was by far the most common surgical approach (n = 10.111; 97%) followed by anterior fusion (n = 200; 1,9%). CONCLUSIONS: Our findings reveal a significant increase in the average incidence of scoliosis diagnosis, rising from 107 per 100,000 individuals in 2015 to 161 per 100,000 in 2022. Scoliosis now impacts an estimated 1.2% of children and adolescents in Turkey. The risk is 1.45 times higher in females than in males.

Fracture Patterns and Mortality in Osteopetrosis: A 7-year Retrospective Analysis from Türkiye's National Registry.

BACKGROUND: The aim of this study is to determine the demographic data, fracture treatment methods, and medical treatments of patients diagnosed with osteopetrosis in the national registry. METHODS: Patients with International Classification of Diseases (ICD)-10 code Q78.2 for osteopetrosis between January 1, 2016 and April 11, 2023 were retrospectively reviewed. Data on sex, age at time of diagnosis, fracture history, mortality, and use of medications were evaluated for all patients. In addition, open reduction and internal fixation, closed reduction and internal fixation, closed reduction and casting, and conservative treatment methods were noted. The number of patients requiring deformity surgery was determined. The incidence and prevalence of osteopetrosis were also calculated in this cross-sectional study. RESULTS: A total of 476 patients diagnosed with osteopetrosis were identified. The mean age at time of diagnosis of these patients was 5.79 ± 5.43 years. A total of 101 patients died. As the age at diagnosis decreased, the mortality rate of the patients increased with statistical significance ( P <0.001). A total of 192 fractures were seen in 121 osteopetrosis patients in this study. Femur fractures were most common among these patients with osteopetrosis. A history of fracture was statistically significantly less common in patients using a combination of vitamin D + calcium compared with patients not using such medication ( P <0.001). In this 7-year cross-sectional study, the incidence was found to be 1 in 416,000 and the prevalence was 0.00199% in the population under 18 years of age. CONCLUSION: Younger age at diagnosis is associated with higher mortality in patients with osteopetrosis. In addition, the combination of vitamin D and calcium were associated with lower fracture incidence. LEVEL OF EVIDENCE: Prognostic Level II.

Improving health-care planning for fracture patients in Türkiye: insights from a nationwide study.

BACKGROUND: The distribution of fractures may vary according to age and gender. In a country like Türkiye, which has high population density and covers a large geographical area, it is important to understand the regional variations in fractures and identify the health institutions in which patients seek treatment to plan new health-care investments effectively. The objective of our study was to investigate the distribution of fractures across the seven regions of Türkiye considering age, gender, and the level of health institutions the patients visited. METHODS: Between January 2021 and May 2023, the total number of fractures, locations of the fractures, patient age and gender, geographical regions, and levels of the health-care institutions to which the patients presented were examined through the e-Nabiz personal health record system. Age groups were divided into pediatric (0-19 years), adult (20-64 years), and geriatric (≥65 years) categories. Geographical regions included the Marmara, Central Anatolia, Black Sea, Eastern Anatolia, Aegean, Mediterranean, and Southeastern Anatolia regions. RESULTS: A total of 2,135,701 patients with 2,214,213 fractures were analyzed. Upper extremity fractures were the most common among all considered fracture groups (1,154,819 fractures, 52.2%). There were 643,547 fractures in the pediatric group, 1,191,364 fractures in the adult group, and 379,302 fractures in the geriatric group. While the total number of fractures was higher among men with 1,256,884 fractures (58.9%), the rate among women was higher in the geriatric group (67.2%). Geographically, the highest number of fractures was observed in the Marmara region (714,146 fractures), and 67.92% of all patients presented to secondary health-care institutions (1,500,780 fractures). The most commonly diagnosed fracture in the study population was distal radius fractures. The most common fracture in the geriatric group was femur fractures while distal radius fractures were the most common fractures in the adult and the pediatric groups. CONCLUSION: By understanding the distribution of fractures in Türkiye based on fracture site, geographical region, age, and gender, it becomes possible to improve the planning of patient access to health-care services. In regions with limited health resources, a more successful resource distribution can be achieved by considering fracture distributions and age groups.

Are There Any Significant Risk Factors Associated with Lateral Trochanteric Pain in Patients Who Have Undergone Primary Hip Replacement?

Introduction Lateral pain around the greater trochanter (LTP) is a common complication after total hip arthroplasty (THA) that can significantly reduce quality of life. The aim of this study was to analyze the relationship between lateral trochanteric bursa repair, subcutaneous fat thickness, and trochanteric pain during the THA procedure. Materials and methods A total of 98 patients who underwent THA for hip arthrosis between 2021 and 2022 were evaluated retrospectively. For all evaluated patients, subcutaneous thickness was measured between the fascia and the skin at the incision site. Bursa repair was performed in 47 patients, while bursa excision was done in 51 patients. The data obtained included demographic information, functional scores, comorbidities, bursa repair and skin thickness values, radiographic evaluations, and other specific markers. These were compared between patients diagnosed with LTP following THA and the controls. Results No difference was observed between the study groups in terms of subcutaneous fat thickness, bursa repair, and other demographic or radiographic evaluations. As expected, there were statistically significant differences between the groups in terms of the visual analog scale (VAS) score (p=0.030) and the Harris hip score (HHS) (p=0.045). When comparing the groups with and without LTP, the VAS score was higher in the group with LTP, while the HHS was found to be lower. Conclusion Trochanteric pain is not associated with bursa repair or subcutaneous thickness. LTP cannot be predicted based on comorbidities such as smoking, BMI, or radiographic measurements.

Epidemiology and demographics of pediatric proximal femur fractures in Türkiye: results from a government-based health registry.

We evaluate the epidemiology and incidence of pediatric proximal femur fractures, treatment trends among different hospital levels, and complication rates among different treatment modalities by examining a national health registry in Türkiye. The health records of individuals aged ≤16 years admitted to public, private, and university hospitals were collected via the e-health database of the Turkish Ministry of Health. A total of 2388 children treated for proximal femur fractures from 2016 to 2021 with at least 2 years of follow-up were included in the study. While 2033 (85.1%) patients were treated with closed reduction and spica casts, 355 (14.8%) were operated on. Mean age was 8.603 ±â€…5.11 years. Male incidence was 2-fold greater compared to female patients (36.4% female and 63.6% male patients; P < 0.001). The frequency of cases was significantly increased in the age groups of 3-4 and 13-16 years. Comorbidities causing limited ambulation were detected in 6.5% of all cases, and 163 (8.0%) patients in the conservative group and 98 (27.6%) patients in the surgery group had at least one complication. The incidence was 0.45 per 100 000 children aged ≤16 years. This study reports the largest patient cohort to date, providing evidence on the epidemiology and incidence of pediatric proximal femur fractures using health registry data. We have found that the most common treatment modality for proximal femur fractures is closed reduction with spica casts. The rate of avascular necrosis is similar among patients treated surgically and those treated conservatively.

Prevalence, Incidence, and Surgical Treatment Trends of Cerebral Palsy across Türkiye: A Nationwide Cohort Study.

BACKGROUND: Cerebral Palsy (CP) is the most prevalent neurodevelopmental disorder in childhood. Our aim is to identify the demographics of CP in Turkish children in addition to clinical associations and surgical preferences. METHODS: Based on national health system data and the International Classification of Diseases (ICD)-10 code for CP, data were evaluated from a total of 53,027 children with CP born between 2016 and 2022, and 9658 of them underwent orthopedic surgery in those years. The incidence and frequency of CP were assessed for the parameters of age and gender. Age at the time of surgery; codes pertaining to surgical interventions; and regions, cities, and hospitals where diagnoses and surgical procedures were performed were also evaluated. RESULTS: There were 29,606 male (55.8%) and 23,421 (44.2%) female patients. The diagnoses of the patients were mostly (76.1%) performed in secondary and tertiary hospitals. The prevalence of CP among children in 2016-2022 was estimated to be 7.74/1000 children. The minimum and maximum incidence rates of cerebral palsy among children between 2016 and 2022 were calculated to be 0.45 and 1.05 per 1000, respectively. Tenoplasty-myoplasty tendon transfer operations were the most common surgeries (47.1%). CONCLUSION: CP remains a significant health challenge, underpinning a considerable proportion of childhood motor dysfunction. A dedicated national registry system for CP focused on classifying the condition, streamlining treatment, and tracking outcomes would be a valuable tool in our collective efforts to address this critical issue more effectively.

Impact of Posterior Malleolus Fixation on Clinical and Functional Results.

BACKGROUND: Clinical studies have shown that posterior malleolar fractures treated with a posterior buttress plate have improved outcomes compared to anterior-to-posterior screw fixation. The aim of this study was to evaluate the impact of posterior malleolus fixation on clinical and functional results. METHODS: The patients with posterior malleolar fractures who were treated between January of 2014 and April of 2018 at our hospital were investigated retrospectively. Fifty-five patients included in the study were divided into three groups according to the fixation preferences of fractures (group I, posterior buttress plate; group II, anterior-to-posterior screw; and group III, nonfixated). The groups consisted of 20, nine, and 26 patients, respectively. These patients were analyzed according to demographic data, fixation preferences of fractures, mechanism of injury, hospitalization length of stay, surgical time, syndesmosis screw use, follow-up time, complications, Haraguchi fracture classification, van Dijk classification, American Orthopaedic Foot and Ankle Society score, and plantar pressure analysis. RESULTS: There were no statistically significant differences between the groups in terms of gender, operation side, injury mechanism, length of stay, anesthesia types, and syndesmotic screw usage. However, when the age, follow-up time, operation time, complications, Haraguchi classification, van Dijk classification, and American Orthopaedic Foot and Ankle Society scores were evaluated, statistically significant differences were observed between the groups. Plantar pressure analysis data showed that group I yielded balanced pressure distribution between both feet compared to the other study groups. CONCLUSIONS: The posterior buttress plating of posterior malleolar fractures yielded better clinical and functional outcomes compared to the anterior-to-posterior screw fixation and nonfixated groups.

Shedding light on slipped capital femoral epiphysis: a nationwide study on Turkish population.

OBJECTIVES: This comprehensive study aimed to describe the epidemiologic and demographic distribution of slipped capital femoral epiphysis (SCFE) in Türkiye, a condition that globally presents at a rate of 10.8 cases per 100 000 children. Utilizing data from the Ministry of Health, we examined the specifics of SCFE in Türkiye, comparing the findings with those of other populations to clarify the country's unique epidemiological profile. METHODS: In this retrospective analysis, the Ministry of Health's database was used to extract medical records of children under the age of 16 diagnosed with SCFE from 2016 to 2023. Patients were evaluated based on sex, age at diagnosis, comorbidities, complications, time of diagnosis and BMI. RESULTS: Our analysis identified 720 children with SCFE, with the average age at diagnosis being 12.9 years. The prevalence of SCFE in Türkiye was found to be 0.005% for the year 2022. The occurrence of SCFE showed no correlation with seasons. It was noted that the majority of patients received treatment at university and high-level hospitals (59.9%), with none being treated at lower-level public hospitals. A total of 58 patients were found to have additional growth and developmental diseases. Notably, only 33 cases (4.6%) involved avascular necrosis during follow-up. CONCLUSION: This study provides the first epidemiological and demographic analysis of SCFE in Türkiye. Interestingly, our data suggest that male patients are twice as likely to develop SCFE compared to their female counterparts.

Total Infrapatellar Fat Pad Excision Leads to Worse Isokinetic Performance in Total Knee Arthroplasty: A Randomized Controlled Trial.

There are concerns that total infrapatellar fat pad (IPFP) excision in total knee arthroplasty (TKA) results in patellar tendon shortening due to ischemic contracture, but individual preference of the surgeon is still the main determinant between total or partial excision. The aim of this randomized controlled study was to compare isokinetic performance and clinical outcome of TKAs with total and partial excision of the IPFP. Seventy-two patients scheduled to undergo TKA for primary knee osteoarthritis by a single surgeon were randomly assigned to either total or partial excision group. Patients were evaluated preoperatively and at postoperative 1 year, with Knee Society Score (KSS) and isokinetic measurements. The physiatrist performing isokinetic tests and patients were blinded to the study. There were no significant differences between the groups in respect of age, body mass index, gender, and preoperative KSS and isokinetic performance. Postoperatively, both groups had improved KSS knee and KSS function scores, with no difference determined. Knee extension peak torque was significantly higher postoperatively in the partial excision group at postoperative 1 year (p = 0.036). However, there were no significant differences in knee flexion peak torque following TKA (p = 0.649). The results of this study demonstrated that total excision of the IPFP during TKA is associated with worse isokinetic performance, which is most likely due to changes in the knee biomechanics with the development of patella baja. Partial excision of the IPFP appears to be a valid alternative to overcome this potential detrimental effect without impeding exposure to the lateral compartment. This is a Level I, therapeutic study.

Aneurysmal Bone Cyst of the Medial Cuneiform: A Case Report.

The aneurysmal bone cysts, usually found in the tibia, femur, pelvis, or humerus, are expansile pseudotumor lesions of unknown etiology. An aneurysmal bone cyst is rarely seen in the medial cuneiform. In this case report, a 43-year-old man with an aneurysmal bone cyst in the left medial cuneiform is presented. The cyst was curetted, and the defect was filled with an en bloc iliac crest graft. A screw was placed to fix the graft in the proper position. In the 2-year follow-up of the patient, recurrence was not detected radiologically.

Reconstruction of Foot Postaxial Polydactyly Using the On-top Plasty: A Case Report.

Polydactyly is a common congenital hand, foot, or both anomalies characterized by the presence of extra fingers. Postaxial polydactyly is the most common congenital malformation consisting of the lateral or fibular aspect of the foot. Extra finger excision in the treatment of foot polydactyly is considered the basic procedure in surgery. However, in some cases more complex surgeries should be preferred. In this study, the "on-top plasty" method with a minimally invasive approach is presented in a case of complex foot postaxial polydactyly.

Saw-related injuries of the lower extremity.

INTRODUCTION: Saw-related injuries can be found in all parts of the body. Especially hand saw-related injuries are frequently encountered in the literature. The aim of the study is to present our demographic data, treatment strategy and prevention of the saw-related injuries in the lower extremity. METHODS: A retrospective analysis was conducted between 2010 and 2015 and only cases with saw-related lower extremity injuries were included in the study. These patients were analyzed according to demographic data, occupational status, procedures performed, hospitalization length of stay, return to work, and complications. RESULTS: There were 48 male and 1 female patients; their mean age was 44.06 ± 13.6 (22-77) years. The average referral time after injury was 1.51 ± 0.16 (1-7) hour. The average hospitalization length of stay was 3.76 ± 3.9 (1-22) days. Fractures were also present in 13 (26.5%) patients. Postinjury complications occurred in 18 (36.7%) patients. 4 (8.2%) of the cases did not return to the job after the injury. The average return time to the work was 2.95 ± 1.5 (1-7) months. CONCLUSION: Lower extremity saw-related injuries tend to be overwhelmingly male and most often seen distal to the extremity, especially on the medial side of the extremity. A significant number of patients did not return to the job after the injury.