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.

Evaluation of sinonasal involvement in patients with asthma and chronic obstructive pulmonary disease.

Background: Asthma and chronic obstructive pulmonary disease (COPD) are the most common obstructive diseases. Based on the similarities, we aimed to evaluate sinonasal symptoms in patients with asthma or COPD, and compare the two diseases with regard to upper-airway involvement. Methods: Patients with asthma or with COPD who were followed up at Ankara University Immunology and Allergy or Chest Diseases Departments were included in the study. The participants went through pulmonary function tests, skin-prick tests, and disease severity assessment of either disease. Nasal endoscopic evaluations of all the patients were performed in the Department of Otorhinolaryngology. Lund-Mackay scoring was performed on the computed tomography of the paranasal sinus. Chronic rinosinusitis (CRS) diagnosis was made as recent guidelines. Results: A total of 112 subjects (number of women/men: n = 67/45; median age, 49 years [The range for IQR was 22 years]) were included in the study. Fifty-five patients had asthma, 33 had COPD, and 24 were healthy controls. Nasal symptoms were more frequent in the patients with asthma (patients with asthma, n = 52 [98%]; patients with COPD, n = 17 [52%]; controls, n = 9 [38%]) (p < 0.001). The median (IQR) 22-item Sino-Nasal Outcome Test (SNOT-22) questionnaire score was higher in the patients with asthma (33 [20-50]) than in the patients with COPD (8 [1.5-18.7]) and the control group (3.5 [0-18.7]) (p < 0.01). Patients with asthma had significantly higher prevalence rates of rhinosinusitis than did those in the COPD and the control groups (36%, 15.6%, 8.3%, respectively; p < 0.01). The SNOT-22 optimal cutoff score was calculated as ≥11 to detect the score limit for CRS prediction with the best sensitivity and specificity. Conclusion: As a result, patients with both asthma and COPD may have upper-airway symptoms. CRS, was primarily seen in the patients with asthma. Accordingly, SNOT-22 scores were higher in the patients with asthma than in those in the COPD and the control groups. A referral to the Ear Nose Throat department for further evaluation with nasal endoscopy and computed tomography of the paranasal may be required in a subgroup of patients.

Understanding the recurrent pulled elbow.

Nursemaid elbow is subluxation of the radius head seen in early childhood. The aim of this study was to examine the epidemiology of recurrent dislocations and the effect of hyperlaxity and bone anatomy on recurrent dislocations in these injuries, for which the pathogenesis has not been fully clarified. The study included a total of 329 paediatric patients who presented at the Paediatric Emergency Department (ED) between January 2016 and December 2022, and were diagnosed with Nursemaid Elbow. On presentation at ED, two-directional elbow radiographs were taken of all the patients and the radius head-neck ratio was measured on the lateral elbow radiograph. The Beighton score of joint hyperlaxity was evaluated in all the patients with a history of recurrent dislocation. A statistically significant difference was determined between the Beighton score groups in respect of the number of dislocations in multiple dislocations (P = 0.002). No statistically significant relationship was determined between the number of dislocations and the lateral radius head/neck ratio (P = 0.061). Hyperlaxity syndrome should be kept in mind in the aetiology of multiple dislocations.

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.

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.

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.

Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region.

BACKGROUND/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment. CLINICAL TRIAL NUMBER: ClinicalTrials.gov Identifier: NCT04457518.

Comparison of OCT findings of schizophrenia patients using FGA, Clozapine, and SGA other than Clozapine

ABSTRACT Objective: The effect of antipsychotic (AP) drugs on optical coherence tomography (OCT) findings in schizophrenia has not yet been fully elucidated. In this study, we aimed to investigate the effects of APs (the first generation antipsychotic group [FGAG], the second generation antipsychotic group [SGAG], the clozapine group [CG]) on OCT findings in schizophrenia. Methods: The thickness of the retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), and choroidal thickness were measured using a spectral OCT device. Results: No significant difference was found between FGAG, SGAG, CG (p > 0.05) while there was a significant difference between the control group and the patients group in terms of RNFL, GCL, and IPL (p < 0.05). A significant difference between SGAG and CG, FGAG (p < 0.05); between control group and FGAG (p < 0.05) were found in terms of choroidal thickness. Conclusion: These findings suggested the deterioration of the metabolic parameters due to the SGA use. Thinner choroidal layer thickness in the CG compared to the SGAG and control group was thought to be related to the patients using clozapine had a resistance to the treatment.

Effect of Anesthesia Applied for Magnetic Resonance Imaging on the Body Temperature of Pediatric Patients.

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.