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Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease, and colchicine is the mainstay of treatment. Approximately 5%-10% of patients may respond inadequately to colchicine, and anti-interleukin-1 (anti-IL-1) agents are important treatment options in these patients. The aim of this study was to see whether there is any factor associated with the withdrawal of these anti-IL-1 agents and to investigate the characteristics of colchicine-resistant FMF patients who needed biological therapy., Methods: Demographic, clinical characteristics, and disease severity of patients, at 2 referral centers, between 2012 and 2022, in whom anti-IL-1 treatment was continued and discontinued, were compared in this study. The international severity scoring system for FMF (ISSF) was used for disease severity assessment., Results: In 64 colchicine-resistant FMF patients, the median (interquartile range) duration of biological treatment was 39 (45) months. Treatment of 26 patients (40.6%) was started with anakinra and 38 (59.4%) with canakinumab. During follow-up, anti-IL-1 treatment was discontinued in 23 patients (35.9%). High ISSF scores before biological treatment, presence of exertional leg pain, subclinical inflammation, and comorbidities were found to be statistically more frequent in the group whose biological therapy could not be discontinued ( p = 0.009, p = 0.006, p = 0.026, p = 0.001, respectively)., Conclusions: Low ISSF scores before biological treatment with no accompanying exertional leg pain, subclinical inflammation, and comorbidities may be stated as an associated factors in terms of the discontinuation of biological agents in colchicine-resistant pediatric FMF patients., Competing Interests: The authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

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 ± 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., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and evaluate rare mutations., Methods and Results: The study included 2984 patients who applied to Ankara University Ibni Sina Hospital Immunology Laboratory with clinical suspicion of FMF between 2004 and 2014. The data of patients from different regions of the country who were followed up in the immunology-rheumatology clinic with clinical suspicion and presumptive diagnosis of FMF were evaluated retrospectively. Patients were tested for all mutations in Exon 2 and Exon 10, including M694V, M680I, M694I, V726A, E148Q and R202Q. There were 2504 patients with FMF variant. According to genotyping, R202Q (n = 1567, 39.2%) was the most common mutation. The most common co-variant was the R202Q/M694V genotype (n = 507, 16.98%). Allele frequencies for MEFV mutations were as follows: R202Q (n = 1567, 39.2%), M694V (n = 1004, 25.1%), E148Q (n = 463, 11.5%), M680I (n = 354, 8.8%), V726A (n = 319, 7.9%), A744S (n = 51, 1.2%), R761H (N = 41, 1.0%), P706P (N = 25, 0.6%), E167D (N = 23, 0.5%), M694I (N = 23, 0.5%), and K695R (N = 20, 0.5%)., Conclusion: This research revealed the prevalence of both common and rare MEFV gene mutations in Turkish FMF patients in various age groups. R202Q was the most prevalent mutation., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

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., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2024.)

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., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

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-Nabız 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.

Objective Anesthesia may be required to ensure the immobility of the patient during a magnetic resonance imaging (MRI) scan, particularly in pediatric patients. An MRI scanner generates radiofrequency radiation (RFR) to obtain images of parts of the body. During an MRI procedure, an amount of RFR is transformed into heat by the body, thereby leading to increased body temperature. However, patients are at increased risk of hypothermia due to the impairment of thermoregulation by anesthesia and the cold and dry environment of the MRI room. The aim of this study was to investigate the effects of anesthesia on body temperature with regard to patient safety in pediatric patients undergoing an MRI scan. Materials and methods The study included a total of 40 children aged three to 10 years who underwent an MRI procedure. The patients were divided into two groups based on the administration of anesthesia: (I) non-sedated and (II) sedated. Prior to the procedure, non-sedated patients were informed about the procedure by a psychiatrist. Body temperature was measured from the tympanic membrane and skin in each patient. The MRI scan was performed at room temperature (20°C-22°C) with a relative humidity of 35%-40%. Results No significant change was found between pre- and post-scan body temperatures in Group I, whereas a significant decrease was found between pre- and post-scan body temperatures in Group II. No complication occurred in any patient due to temperature change or anesthesia. Conclusion A significant decrease in body temperature was found in pediatric patients undergoing an MRI procedure under sedation. The results implicated that anesthesia has a remarkable effect on the balance between the temperature increase caused by RFR and the temperature decrease caused by anesthesia., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2019, Uludağ et al.)