Assessing the role of hip arthrography in the treatment decision making forchildren with Legg-Calvé-Perthes disease

Objective: The aim of this study was to determine the role of hip arthrography in the treatment decision making for children with Legg-Calvé-Perthes disease (LCPD).Methods: A total of 47 consecutive children with LCPD (42 boys, 5 girls; mean age=7.5 years; range=6-10 years) who underwent operative treatment were included in the study. The patient demographics, physical examination findings (pain and hip range of motion [ROM]), standard anteroposterior and Löwenstein lateral hip radiographs, and hip arthrography data were retrospectively collected. The arthrographies were performed immediately before the surgery under general anesthesia. The patients were staged according to the Catterall and Herring classifications and examined in terms of head-at-risk signs before the study. Four sets of patient files were established based on the aforementioned data, with each child in a randomized and blinded order. Ten consultant pediatric orthopedic surgeons randomly assessed the patient files on 4 separate occasions (Set 1 vs Set 2 and Set 3 vs Set 4), with a minimum time interval of 4 weeks. In the first and second sets, the demographic and clinical information, including the age, gender, hip ROM, and hip radiographs, were presented. In the third and fourth sets, hip arthrography was presented in addition to the data from Set 1 and Set 2. The observers were instructed to choose the best treatment options. The percent agreement (PA) and Gwet’s AC1 statistics were used to establish a relative level of agreement among the observers. Results: The mean intra-observer reliabilities ranged from fair to moderate after adding the hip arthrography data (Gwet’s AC1 = 0.36 for Set 1 vs Set 2 and 0.42 for Set 3 vs Set 4). The mean PA was 56.6% (range = 29.8% to 78.7%) with a Gwet’s AC1 value of 0.51 (range: 0.21 to 0.77) between Set 1 and Set 3 (moderate intra-observer reliability). The decision for the treatment strategy was changed in 43.4% of the patients. For inter-observer reliability, Gwet’s AC1 was computed as 0.48 (moderate reliability). The correlation between the intra-observer reliability and stage progression was not significant (p>0.05) for any of the subgroups. Thus, there is a negative correlation with the disease progression.Conclusion: Hip arthrography seems to have a significant role in the treatment decision making for children with LCPD, especially in the advanced stages of the disease.Level of Evidence: Level IV, Therapeutic stud

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out of them were novel variants (25.9%). Patients who complied with NIH criteria had most frequently frameshift variants (11/32 patients), and those with only CALMs had missense variants (9/28 patients). Neurofibromatosis type 1 bright objects (NBOs) on T2-weighted MRI were detected in 42 patients (42/56; 75%). These brain lesions were detected mostly in basal ganglia and in cerebellar vermis. NBOs were detected more in the patients who complied with NIH criteria (80.6%) compared to those who were only CALMs (68%). While frameshift variants (33.3%) were the most common type variants in the patients who had NBOs, the most common variants were splicing (35.7%) and missense (35.7%) variants in the patients whose MRIs were normal. Frameshift variants (11/28 patients; 39.3%) were the most common in the patients with more than one brain locus involvement. Therefore, we consider that frameshift variants may be associated with increased incidence of NBOs and involvement of more than one brain locus. In addition, NBOs may occur less frequently in the patients with splicing variants. To our knowledge, this is the first study evaluated the relationship between NF1 gene variants and NBOs. Future studies may help us understand the etiology of NBOs

Türkiye’de nonvalvüler atriyum fibrilasyonlu hastalarda vitamin K antagonisti ve yeni oral antikoagülan kullanımı uygulamalarını değerlendirmek için epidemiyolojik çalışma - AFTER*-2 çalışması dizaynı

Amaç: Atriyum fibrilasyonu (AF) önlenebilir iskemik inmenin en sık nedenlerinden biri olup artmış kardiyovasküler morbidite ve mortaliteyle ilişkilidir. Ülkemizde yeni oral antikoagülan kullanım sıklığı, vitamin K antagonisti kullanan hastalarda Uluslararası Düzeltme Oranı’nın (INR) etkin düzeyde kalma oranı ve AF tedavi yönetimi ile ilgili büyük bir çalışma mevcut değildir. Bu çok merkezli çalışmada amacımız nonvalvüler AF hastalarında epidemiyolojik verilerin analizi, takibi ve değerlendirilmesidir. Çalışma planı: Kırk iki merkezden elektrokardiyografisinde en az bir defa AF atağı tespit edilmiş ardışık 4100 erişkin hasta çalışmaya alınacaktır. Romatizmal mitral darlığı ve protez kapak hastalığı olan AF hastaları çalışmaya alınmayacaktır. Hastalar birinci yılın sonunda majör kardiyak sonlanım noktaları (ölüm, geçici iskemik atak, inme, sistemik tromboembolizm, majör kanama ve hastane yatışı) açısından değerlendirilecektir. Bulgular: İlk sonuçlar Haziran 2015 yılında bekleniyor. Majör kardiyak sonlanım noktaları açısından veriler Ocak 2016’da elde edilecektir. Sonuç: AFTER-2 çalışması ile ülkemizdeki non-valvüler AF hastalarının oral antikoagülan tedavi kullanım sıklığı ve çeşidi, varfarin alan hastalarda etkin INR düzeylerinde kalma oranı ve benimsenen tedavi yönetimi belirlenecektir. Ayrıca, ülkemizde AF’li hastalarda majör istenmeyen olay sıklığı ve bu olayların bağımsız belirteçleri de ortaya çıkarılacaktır (AFTER-2 Study ClinicalTrials.gov number, NCT02354456). Anahtar Kelimeler: Antikoagülan ilaç; atriyum fibrilasyonu/epidemiyoloji; ilaç kullanımı; elektrokardiyografi; uluslararası düzeltme oranı; varfarin.Objectives: Atrial fibrillation (AF) is one of the most common causes opreventable ischemic stroke and is related to increased cardiovasculamorbidity and mortality. There is a lack of data in Turkey on the use onew oral anticoagulants (NOACs), and time in therapeutic INR range (TTR) in vitamin K antagonist users and AF management modalityIn this multi-center trial, we aimed to analyze, follow and evaluate the epidemiological data in non-valvular AF patients. Study design: Four thousand one hundred consecutive adulpatients from 42 centers with at least one AF attack identified on electrocardiography will be included in the study. Patients with rheumatic mitral valve stenosis and prosthetic valve disease will be excluded from the study. At the end of one year, the patients will be evaluated in terms of major cardiac end points (death, transient ischemic attack, strokesystemic thromboembolism, major bleeding and hospitalization). Results: First results are expected in June 2015. Data about majocardiovascular end-points will be available in January 2016. Conclusion: The rates and kind of oral anticoagulant use, TTR in vitamin K antagonist users and main management modality applied in non-valvular AF patients will be determined by AFTER-2 studyIn addition, the rate of major adverse events (MACEs) and the independent predictors of these MACEs will be detected (AFTER-2 Study ClinicalTrials.gov number, NCT02354456.)