Langerhans Cell Histiocytosis in the Occipital Condyle: A Case Study and a Brief Review of the Literature

We present a case study of a 5-year-old patient, who presented with left-sided torticollis. Due to persistence of problems, a CT and an MRI were made showing a single osteolytic lesion centred on right occipital condyle. After an open biopsy, histology confirmed it to be Langerhans cell histiocytosis (LCH). Torticollis or restricted range of motion is a presenting feature in 76% of children with LCH with cervical involvement. There remains much debate on the best treatment strategy. The clinical and radiological outcomes of the case study presented on this article support the treatment of LCH with chemotherapy in cases with solitary involvement of the occipital condyle.info:eu-repo/semantics/publishedVersio

Clinical outcomes of extra-articular tenodesis/anterolateral reconstruction in the ACL injured knee

Purpose: The role of concomitant extra-articular procedures in improving the outcome of ACL reconstruction has experienced a recent resurgence in interest. The aim of this article is to highlight the differences in philosophies and outcomes of historical non-anatomic reconstructions and contemporary, anatomical anterolateral reconstruction. Methods: A narrative review was performed using PubMed/MEDLINE using the keywords "lateral extra-articular tenodesis" and "anterolateral ligament reconstruction". Results: Results of search strategy: 37 studies [13 reporting clinical outcomes of isolated lateral extra-articular tenodesis (LET) in ACL deficient knees and 23 comparing isolated anterior cruciate ligament reconstruction (ACLR) with ACLR + LET] and one study on anterolateral ligament (ALL) reconstruction were identified as relevant and included in the review. Results of literature review: Isolated extra-articular reconstructions are rarely performed in contemporary practice. They are associated with a high rate of persistent anterior instability and early degenerative change. Combined ACL reconstruction and lateral extra-articular tenodeses results in a significant reduction in the prevalence of residual pivot shift, but the majority of the studies do not demonstrate any significant difference with respect to patient-reported outcome measures and return to sport. Although several authors report a trend towards decreased graft rupture rates, significant differences were not demonstrated in most studies. In a single clinical study, combined anatomic ACL and anterolateral ligament reconstruction was reported to be associated with a three-fold reduction in graft rupture rates and improved return to sport compared to isolated ACL graft choices. Conclusions: Historically performed, combined ACL reconstruction and lateral extra-articular tenodeses are associated with improved knee kinematics. Although a trend towards decreased graft rupture rates is reported by several authors, the majority did not demonstrate a significant difference, likely as a result of small and underpowered studies using postoperative immobilisation and delayed rehabilitation protocols. More recently, combined ACLR and ALL reconstruction has been shown to be associated with significant improvements in graft failure and return to sport rates when compared to isolated ACLR. However, these results are from a single clinical series with only medium-term follow-up. Level of evidence: IV

IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia

IKZF1 deletion (ΔIKZF1) is an important predictor of relapse in both childhood and adult B-cell precursor acute lymphoblastic leukemia (B-ALL). Previously, we revealed that COBL is a hotspot for breakpoints in leukemia and could promote IKZF1 deletions. Through an international collaboration, we provide a detailed genetic and clinical picture of B-ALL with COBL rearrangements (COBL-r). Patients with B-ALL and IKZF1 deletion (n = 133) were included. IKZF1 ∆1-8 were associated with large alterations within chromosome 7: monosomy 7 (18%), isochromosome 7q (10%), 7p loss (19%), and interstitial deletions (53%). The latter included COBL-r, which were found in 12% of the IKZF1 ∆1-8 cohort. Patients with COBL-r are mostly classified as intermediate cytogenetic risk and frequently harbor ETV6, PAX5, CDKN2A/B deletions. Overall, 56% of breakpoints were located within COBL intron 5. Cryptic recombination signal sequence motifs were broadly distributed within the sequence of COBL, and no enrichment for the breakpoint cluster region was found. In summary, a diverse spectrum of alterations characterizes ΔIKZF1 and they also include deletion breakpoints within COBL. We confirmed that COBL is a hotspot associated with ΔIKZF1, but these rearrangements are not driven by RAG-mediated recombination

Health workers' perspectives on asthma care coordination between primary and specialised healthcare in the COVID-19 pandemic: a protocol for a qualitative study in Ecuador and Brazil.

INTRODUCTION: Asthma is a common long-term disorder and strategies to improve asthma control are still a challenge. Integrated delivery of health systems is critical for effective asthma care: there is limited information on experiences of care coordination for asthma from Latin America, especially on perspectives of health personnel and in the context of the COVID-19 pandemic. METHODS AND ANALYSIS: This protocol details a qualitative approach to analyse health workers' perspectives of healthcare coordination for asthma control during COVID-19 pandemic in Ecuador and Brazil, at primary and specialised levels, through in-depth semistructured interviews using a video communications platform. The analysis will identify knowledge and perspectives based on coordination of clinical information, clinical management and administrative coordination. Theoretical sampling will be used to obtain approximately equal numbers of women and men within each level of healthcare; data saturation will be used to determine sample size. Transcripts will be analysed using content-coding procedures to mark quotations related to major topics and subthemes included in the interview guide, and narrative analysis will be based on a theoretical framework for healthcare coordination to identify new themes and subthemes. ETHICS AND DISSEMINATION: Ethical approval was obtained from the ethics committees of Hospital General Docente Calderón, Quito, Ecuador; and Universidade Federal da Bahia, Salvador, Brazil. The findings of this study will be disseminated through peer-reviewed articles, conference presentations and condensed summaries for key stakeholders and partners