EAES and SAGES 2018 consensus conference on acute diverticulitis management:evidence-based recommendations for clinical practice

Background Acute diverticulitis (AD) presents a unique diagnostic and therapeutic challenge for general surgeons. This collaborative project between EAES and SAGES aimed to summarize recent evidence and draw statements of recommendation to guide our members on comprehensive AD management. Methods Systematic reviews of the literature were conducted across six AD topics by an international steering group including experts from both societies. Topics encompassed the epidemiology, diagnosis, management of non-complicated and complicated AD as well as emergency and elective operative AD management. Consensus statements and recommendations were generated, and the quality of the evidence and recommendation strength rated with the GRADE system. Modified Delphi methodology was used to reach consensus among experts prior to surveying the EAES and SAGES membership on the recommendations and likelihood to impact their practice. Results were presented at both EAES and SAGES annual meetings with live re-voting carried out for recommendations with < 70% agreement. Results A total of 51 consensus statements and 41 recommendations across all six topics were agreed upon by the experts and submitted for members’ online voting. Based on 1004 complete surveys and over 300 live votes at the SAGES and EAES Diverticulitis Consensus Conference (DCC), consensus was achieved for 97.6% (40/41) of recommendations with 92% (38/41) agreement on the likelihood that these recommendations would change practice if not already applied. Areas of persistent disagreement included the selective use of imaging to guide AD diagnosis, recommendations against antibiotics in non-complicated AD, and routine colonic evaluation after resolution of non-complicated diverticulitis. Conclusion This joint EAES and SAGES consensus conference updates clinicians on the current evidence and provides a set of recommendations that can guide clinical AD management practice

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Ossification of the posterior longitudinal ligament at the craniocervical junction presenting with Brown-Séquard syndrome:A case report

BACKGROUND: Several case reports about spinal cord compression due to hyperostosis at the craniocervical junction are available. However, compression at C1-C2 solely due to ossification of the posterior longitudinal ligament (OPLL) is rare. CASE DESCRIPTION: A 50-year-old Asian male, with a history of lumbar spinal canal stenosis, presented with a progressive quadriparesis within 3 months. Imaging showed central OPLL at the C1-C2 level contributing to severe spinal cord compression. The patient improved neurologically after a C1-C2 laminectomy. CONCLUSION: A patient presented with a progressive Brown-Séquard syndrome due to OPLL at the craniocervical junction (C1-C2 level) and improved following a decompressive laminectomy

Disease characteristics in Belgian myelofibrosis patients and management guidelines anno 2013

Diagnostic and management guidelines for myelofibrosis patients are presented in this paper. As a consequence of the rapid evolution and progress in this domain over the last years, the need was felt by the BHS MPN subcommittee to update these guidelines for our country. The different prognostic scores in myelofibrosis, the diagnostic tools and treatment options with the focus on new possibilities are discussed

Clinical adjacent segment pathology after anterior cervical discectomy, with and without fusion, for cervical degenerative disc disease:A single center retrospective cohort study with long-term follow-up

Introduction: Clinical adjacent segment pathology (CASP) continues to be a cause of concern after anterior surgical treatment for single- or multilevel cervical degenerative disc disease (CDDD). The current literature reports inconsistent incidence rates and contended risk factors in the development of CASP. Research question: The aim is to determine the incidence of additional CASP-related surgeries after anterior cervical discectomy with fusion (ACDF) or without fusion (ACD) for CDDD. Secondary outcomes include risk factors for the development of CASP and long-term clinical outcomes. Materials & methods: This is a single-center, retrospective cohort study with a long-term follow up. Patients undergoing ACD(F) for CDDD between January 2012 and December 2019 were included. Results: A total of 601 patients were included, with an average follow-up period of 5.0 years. Most patients underwent ACDF with stand-alone cages (87.7%). CASP developed in 58 (9.7%) patients, 41 (70.7%) of which required additional adjacent level surgery. ACD significantly accelerated the development of CASP. The C2-C7 Cobb angle appeared less lordotic upon early post-operative imaging in ACDF patients that later-on developed CASP. Baseline degeneration at the index level and adjacent levels was not significantly different between patients with and without CASP. Discussion & conclusion: In this retrospective cohort, we observe a relatively low rate of additional surgery for CASP in ACDF with stand-alone cages. We suggest that surgical technique, fusion, segmental kyphosis and natural degeneration play a multifactorial role in the development of CASP. Complication rates were low and clinical outcomes were similar for all techniques used

Predicting Survival in Patients Presenting With Spinal Epidural Metastases:The Limburg Spinal Metastasis Score

BACKGROUND: Patients with spinal epidural metastases (SEM) often experience a reduction in ambulatory status and, thus, the quality of life. Predicting which patients will benefit from a surgical intervention remains a challenge. Life expectancy is an essential factor to be considered in surgical decision-making, although not the only one. Prediction models can add value in surgical decision-making. The goal of this study was to develop and internally validate a novel model (Limburg spinal metastases score [LSMS]) and compare the predictive value with 2 commonly used models: modified Bauer score and Oswestry Spinal Risk Index (OSRI). METHODS: We retrospectively analyzed 144 consecutive patients who underwent surgical decompression for SEM in our centers between November 2006 and December 2020. Clinical and surgical parameters were evaluated. The novel prediction model was based on multivariate analysis and was internally validated. External validation of the 2 most commonly used prediction models was performed. RESULTS: The median survival was 17 months, 55.7% of the immobile patients regained ambulation postoperatively. In 50 patients (34.7%), at least 1 complication occurred within 30 days after surgery. The LSMS consists of 4 parameters: primary tumor type, Karnofsky performance score, presence of visceral metastases, and presence of multiple spinal metastases. Bootstrap internal validation of the model developed on this cohort yielded an optimism-corrected -statistic of 0.75 (95% CI: 0.71-0.80). The -statistic of the OSRI score and the Bauer score was 0.69 (95% CI: 0.64-0.74) and 0.67 (95% CI: 0.62-0.72), respectively. CONCLUSION: The LSMS consists of 4 parameters to assist surgical decision-making for patients with SEM. The score is easy to use and appears more accurate in our population in comparison with previous existing models. CLINICAL RELEVANCE: A novel prediction model was developed to aid in surgical decision-making for patients with spinal epidural metastases

Advocating uniformity in spine surgery:A practical disease-specific guideline for trial-based economic evaluations

Objectives Despite the availability of general and national guidelines for the conduct and reporting of economic evaluations, there is heterogeneity in economic evolutions concerning spine surgery. This is partly the result of differing levels of adherence to the existing guidelines and the lack of disease-specific recommendations for economic evaluations. The extensive heterogeneity in study design, follow-up duration and outcome measurements limit the comparability of economic evaluations in spine surgery. This study has three objectives: (1) to create disease-specific recommendations for the design and conduct of trial-based economic evaluations in spine surgery, (2) to define recommendations for reporting economic evaluations in spine surgery as a complement to the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) 2022 checklist and (3) to discuss methodological challenges and defining the need for future research. Design A modified Delphi method according to the RAND/UCLA Appropriateness Method. Setting A four-step process was followed to create and validate disease-specific statements and recommendations for the conduct and reporting of trial-based economic evaluations in spine surgery. Consensus was defined as &gt;75% agreement. Participants A total of 20 experts were included in the expert group. Validation of the final recommendations was obtained in a Delphi panel, which consisted of 40 researchers in the field who were not included in the expert group. Primary and secondary outcome measures The primary outcome measure is a set of recommendations for the conduct and reporting, as a complement to the CHEERS 2022 checklist, of economic evaluations in spine surgery. Results A total of 31 recommendations are made. The Delphi panel confirmed consensus on all of the recommendations in the proposed guideline. Conclusion This study provides an accessible and practical guideline for the conduct of trial-based economic evaluations in spine surgery. This disease-specific guideline is a complement to existing guidelines, and should aid in reaching uniformity and comparability

A Systematic Review on Neurological Outcomes for Cervical Degenerative Myelopathy After Anterior Decompression Surgery: Motion Preservation vs Fusion

BACKGROUND: Although it is well established that surgically treated patients with cervical degenerative myelopathy (CDM) improve irrespective of the anterior decompression technique used, no consensus exists on what technique is superior in terms of neurological recovery. A general concern exists that anterior cervical discectomy with arthroplasty (ACDA) leads to less favorable outcomes in CDM due to microtrauma caused by preserved mobility. It is remarkable that current literature mainly uses pain scores to assess clinical outcomes after anterior decompression surgery, especially considering that pain may not be the most relevant outcome for CDM. This systematic review evaluated the literature concerning neurological outcomes in patients with CDM treated with anterior decompression surgery and assessed by validated myelopathy scores. METHODS: Systematic searches were carried out in PubMed, EMBASE, Web of Science, CINAHL, and the Cochrane Library. Prospective studies were included when patients with isolated CDM were treated with anterior decompression surgery, and a validated myelopathy outcome score was used. RESULTS: A total of 11 studies were included from the 16,032 identified studies. All studies used the modified Japanese Orthopedic Association (JOA) outcome score and showed improvement for all anterior techniques. The mean improvement in anterior cervical discectomy and fusion (ACDF) was 4.80 and 3.64 for the modified JOA and JOA outcome scores, respectively. The JOA for ACDA showed a mean improvement of 5.51. The overall quality of the included articles was low to moderate according to the Cochrane tool. CONCLUSION: Neurological recovery of CDM is similar after all anterior decompression techniques, including ACDA when compared with ACDF. CLINICAL RELEVANCE: The current literature gives no reason to dissuade the use of ACDA in cervical myelopathy. LEVEL OF EVIDENCE: 3