Anti-Synthetase Syndrome Complicated by Pyogenic Myositis

Background: Anti-synthetase syndrome is a rare autoimmune disorder characterized by autoantibodies against aminoacyl-tRNA-synthetases. Inflammatory myopathy and interstitial lung disease could be present among other manifestations. Anti-Jo-1 is the most common antisynthetase antibody and is the most likely to present with the classic triad (interstitial lung disease, myositis, and arthritis) and have more muscle and joint involvement than patients with other antisynthetase antibodies. Case report: Here, we present a case of a 60-year-old female patient, with a previous diagnosis of myositis, secondary to the anti-synthetase syndrome, with a complication by pyogenic myositis. Conclusion: Diagnosis is made by a multidisciplinary approach, occasionally muscle and/or lung biopsy are needed. Imaging studies, Especially magnetic resonance imaging, based on findings such as muscle and fascial edema, and fatty tissue replacement, allow an optimal approach.

Hallux rigidus: clinical examination, radiology, and classification

The severity of hallux rigidus depends on the degree of joint involvement, from local pain to stress fractures of other bones of the foot due to hyper-support. Radiology is mandatory to have an accurate diagnosis and gives us a parameter of joint injury. We use the Coughlin and Shurnas classification as the gold standard for treatment. Level of Evidence IV.

Toward the Knowledge of the Epidemiological Impact of Acute Rheumatic Fever in Italy

Background: To estimate the incidence of Acute Rheumatic Fever (ARF) in Tuscany, a region of Central Italy, evaluating the epidemiological impact of the new diagnostic guidelines, and to analyse our outcomes in the context of the Italian overview.Methods: A multicenter and retrospective study was conducted involving children <18 years old living in Tuscany and diagnosed in the period between 2010 and 2019. Two groups were established based on the new diagnostic criteria: High-Risk (HR) group patients, n = 29 and Low-Risk group patients, n = 96.Results: ARF annual incidence ranged from 0.91 to 7.33 out of 100,000 children in the analyzed period, with peak of incidence registered in 2019. The application of HR criteria led to an increase of ARF diagnosis of 30%. Among the overall cohort joint involvement was the most represented criteria (68%), followed by carditis (58%). High prevalence of subclinical carditis was observed (59%).Conclusions: Tuscany should be considered an HR geographic area and HR criteria should be used for ARF diagnosis in this region.

Sacrectomy with Ilio-Lumbar Stabilization Due to Low-Grade Chondrosarcoma of Sacrum and Iliac Wing. Case Report of the First Surgery Performed in the Republic of North Macedonia

Low - grade chondrosarcomas are primary malignant bone tumors that are resistant to chemo- and radiotherapy and are treated surgically. Sacral localization makes surgical resection technically difficult due to position, anatomic structures involved, and large tumor size at detection. The risk of complications is high. We present the introduction of a novel surgical technique in our country, sacrectomy with ilio-lumbar stabilization. This was performed on a 67-year-old man with low-grade chondrosarcoma of the sacrum with sacroiliac joint involvement. The procedure was performed via an antero-posterior approach in two stages. Ilio-lumbar fixation with a mesh cage bridge was used to obtain spinopelvic continuity and stability. Sacrectomy is a technically demanding procedure that requires careful preoperative planning and a multidisciplinary approach, as well as high level of surgical experience.

Intra- and Interobserver Reliability of the New Classification System of Progressive Collapsing Foot Deformity

Background: Historical concept of flatfoot as posterior tibial tendon dysfunction (PTTD) has been questioned. Recently, the consensus group published a new classification system and recommended renaming PTTD to Progressive Collapsing Foot Deformity (PCFD). The new PCFD classification could be effective in providing comprehensive information on the deformity. To date, there has been no study reporting intra- and interobserver reliability and the frequency of each class in PCFD classification. Methods: This was a single-center, retrospective study conducted from prospectively collected registry data. A consecutive cohort of PCFD patients evaluated from February 2015 to October 2020 was included, consisting of 92 feet in 84 patients. Classification of each patient was made using characteristic clinical and radiographic findings by 3 independent observers. Frequencies of each class and subclass were assessed. Intraobserver and inteobserver reliabilities were analyzed with Cohen kappa and Fleiss kappa, respectively. Results: Mean sample age was 54.4, 38% was male and 62% were female. 1ABC (25.4%) was the most common subclass, followed by 1AC (8.7%) and 1ABCD (6.9%). Only a small percentage of patients had isolated deformity. Class A was the most frequent component (89.5%), followed by C in 86.2% of the cases. Moderate interobserver reliability (Fleiss kappa = 0.561, P < .001, 95% CI 0.528-0.594) was found for overall classification. Very good intraobserver reliability was found (Cohen kappa = 0.851, P < .001, 95% CI 0.777-0.926). Conclusion: Almost half (49.3%) of patients had a presentation dominantly involving the hindfoot (A) with various combinations of midfoot and/or forefoot deformity (B), (C) with or without subtalar joint involvement (D). The new system may cover all possible combinations of the PCFD, providing a comprehensive description and guiding treatment in a systematic and individualized manner, but this initial study suggests an opportunity to improve overall interobserver reliability. Level of Evidence: Level III, retrospective diagnostic study.

DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease

Background: Psoriatic disease is a multifactorial inflammatory condition spanning from skin and nail psoriasis (Pso) to spine and joint involvement characterizing psoriatic arthritis (PsA). Monozygotic twins provide a model to investigate genetic, early life environmental exposure and stochastic influences to complex diseases, mainly mediated by epigenetics.Methods: We performed a genome-wide DNA methylation study on whole blood of monozygotic twins from 7 pairs discordant for Pso/PsA using the Infinium Methylation EPIC array (Illumina). MeDiP—qPCR was used to confirm specific signals. Data were replicated in an independent cohort of seven patients with Pso/PsA and 3 healthy controls. Transcriptomic profiling was performed by RNAsequence on the same 7 monozygotic twin pairs.Results: We identified 2,564 differentially methylated positions between psoriatic disease and controls, corresponding to 1,703 genes, 59% within gene bodies. There were 19 regions with at least two DMPs within 1 kb of distance and significant within-pair Δβ-values (p &lt; 0.005), among them SNX25, BRG1 and SMAD3 genes, all involved in TGF-β signaling pathway, were identified. Co-expression analyses on transcriptome data identified IL-6/JAK/STAT3 and TNF-α pathways as important signaling axes involved in the disease, and they also suggested an altered glucose metabolism in patients’ immune cells, characteristic of pro-inflammatory T lymphocytes.Conclusion: The study suggests the presence of an epigenetic signature in affected individuals, pointing to genes involved in immunological and inflammatory responses. This result is also supported by transcriptome data, that altogether suggest a higher activation state of the immune system, that could promote the disease status.