Updated Recommendations Research Articles

Updated Canadian Headache Society Migraine Prevention Guideline with Systematic Review and Meta-analysis.

We have updated the migraine prevention guideline of the Canadian Headache Society from 2012, as there are new therapies available, and additionally, we have provided guidelines for the prevention of chronic migraine, which was not addressed in the previous iteration. We undertook a systematic review to identify new studies since the last guideline. For studies identified, we performed data extraction and subsequent meta-analyses where possible. We composed a summary of the evidence found and undertook a modified Delphi recommendation process. We provide recommendations for treatments identified and additionally expert guidance on the use of the treatments available in important clinical situations. We identified 61 studies that were included in this evidence update and identified 16 therapies we focused on. The anti-calcitonin gene-related peptide (CGRP) agents were approved by Health Canada between 2018 and 2024 and provide additional options for episodic and chronic migraine prevention. We also summarize evidence for the use of propranolol, topiramate and onabotulinumtoxinA in addition to anti-CGRP agents as treatments for chronic migraine. We have downgraded topiramate to a weak recommendation for use and gabapentin to a weak recommendation against its use in episodic migraine. We have weakly recommended the use of memantine, levetiracetam, enalapril and melatonin in episodic migraine. Based on the evidence synthesis, we provide updated recommendations for the prevention of episodic and chronic migraine utilizing treatments available in Canada. We additionally provided expert guidance on their use in clinical situations.

Treatment of acute pharyngitis in children: an Italian intersociety consensus (SIPPS-SIP-SITIP-FIMP-SIAIP-SIMRI-FIMMG).

Sore throat represents one of the main causes of antibiotic overprescription in children. Its management is still a matter of debate, with countries considering streptococcal pharyngotonsillitis a benign and self-limiting condition and others advocating for its antibiotic treatment to prevent suppurative complications and acute rheumatic fever. Italian paediatricians frequently prescribe antibiotics on a clinical basis regardless of microbiological results. Moreover, broad-spectrum antibiotics are inappropriately prescribed for this condition. In this regard, an intersociety consensus conference was issued to promote the judicious use of antibiotic therapy in paediatric outpatient settings. A systematic review of the literature was performed, and updated recommendations were developed according to the GRADE methodology. Antibiotic treatment with amoxicillin (50mg/kg/day) for 10 days is recommended in all children with proven streptococcal pharyngitis. Benzathine-penicillin could be prescribed in children with impaired intestinal absorption or inability to tolerate enteral intake and in those at high risk of suppurative complications with low compliance to oral therapy. In children with suspected amoxicillin allergy, third-generation cefalosporins for five days are recommended in low-risk patients, and macrolides are recommended in high-risk ones. Candidates for tonsillectomy due to recurrent pharyngitis could be treated with amoxicillin-clavulanic acid, clindamycin, or combined therapy with amoxicillin plus rifampicin for four days, in an attempt to avoid surgery.

2024 Recommendations on the Optimal Use of Lipid-Lowering Therapy in Established Atherosclerotic Cardiovascular Disease and Following Acute Coronary Syndromes: A Position Paper of the International Lipid Expert Panel (ILEP).

Atherosclerotic cardiovascular disease (ASCVD) and consequent acute coronary syndromes (ACS) are substantial contributors to morbidity and mortality across Europe. Fortunately, as much as two thirds of this disease's burden is modifiable, in particular by lipid-lowering therapy (LLT). Current guidelines are based on the sound premise that, with respect to low-density lipoprotein cholesterol (LDL-C), "lower is better for longer", and recent data have strongly emphasised the need for also "the earlier the better". In addition to statins, which have been available for several decades, ezetimibe, bempedoic acid (also as fixed dose combinations), and modulators of proprotein convertase subtilisin/kexin type 9 (PCSK9 inhibitors and inclisiran) are additionally very effective approaches to LLT, especially for those at very high and extremely high cardiovascular risk. In real life, however, clinical practice goals are still not met in a substantial proportion of patients (even in 70%). However, with the options we have available, we should render lipid disorders a rare disease. In April 2021, the International Lipid Expert Panel (ILEP) published its first position paper on the optimal use of LLT in post-ACS patients, which complemented the existing guidelines on the management of lipids in patients following ACS, which defined a group of "extremely high-risk" individuals and outlined scenarios where upfront combination therapy should be considered to improve access and adherence to LLT and, consequently, the therapy's effectiveness. These updated recommendations build on the previous work, considering developments in the evidential underpinning of combination LLT, ongoing education on the role of lipid disorder therapy, and changes in the availability of lipid-lowering drugs. Our aim is to provide a guide to address this unmet clinical need, to provide clear practical advice, whilst acknowledging the need for patient-centred care, and accounting for often large differences in the availability of LLTs between countries.

Current antibiotic resistance of Enterobacteriaceae isolated at Avicenna military hospital of Marrakesh

Enterobacteriaceae are bacteria found in the digestive system, known for causing infections and displaying antibiotic resistance. The World Health Organization (WHO) identifies strains resistant to third-generation cephalosporins and carbapenems as priority pathogens. This study, conducted at Avicenne Military Hospital of Marrakech, aimed to assess the epidemiological and antibiotic resistance profiles of Enterobacteriaceae over a two-year period (May 2020 - April 2022) to inform updated antibiotic use recommendations. This retrospective study analyzed 1,626 positive bacterial isolates from various hospital departments, including medical, surgical, intensive care, emergency units, and external samples. Of these, 1,163 (71.5%) were Enterobacteriaceae, predominantly Escherichia coli, Klebsiella pneumoniae, and Enterobacter cloacae, primarily isolated from urine, pus, and blood cultures. Antibiotic resistance was assessed, revealing that 614 (52.8%) of Enterobacteriaceae were extended-spectrum beta-lactamase producers (ESBL-E), and 115 (9.9%) were carbapenemase-producing Enterobacteriaceae (CPE). The study’s findings align with existing literature, showing a higher prevalence of Enterobacteriaceae in males and frequent isolation of Escherichia coli. The rise in multidrug-resistant Enterobacteriaceae, particularly ESBL-E and CPE, poses risks such as therapeutic failure, increased morbidity and mortality, and significant economic impacts. To address this, the study emphasizes the importance of early detection, infection control measures, responsible antibiotic prescribing, and collaborative efforts across hospital departments to reduce the spread of resistant strains.

Dietary Approaches for Complementary Feeding: The Greek Mediterranean Diet as a Model for Caregivers

Background/Objectives: Complementary feeding (CF), is defined as the process of providing foods in addition to milk when breast milk or milk formula alone are no longer adequate to meet nutritional requirements. CF affects not only growth but also the subsequent development of the child’s dietary preferences. The Mediterranean diet (MedDiet) is one of the most studied dietary patterns worldwide. The main purpose of this article is to provide practical guidance for CF to caregivers introducing the Greek MedDiet, summarizing the current different approaches. The evidence-based information provided could be used by developers to create a reliable digital app for CF based on Mediterranean foods and traditional dishes. Methods: An in-depth literature review of the existing guidelines and recently published research data on CF using PubMed, national recommendations, and grey literature were undertaken. Results: Practical, simple, evidence-based, comprehensive tables are presented. The tables serve as a guide to simplify the process of introducing Mediterranean foods in CF. Τhe tables consist of a total of more than 90 foods and day-to-day guidance for the first 13 weeks of CF. Furthermore, specific dietary guidance and suggestions regarding the order and content of meals during CF are given. Discussion: The tables are based on updated recommendations, summarizing the optimal feeding practices in a MedDiet-based perspective. Conclusions: Conclusively, there are significant contradictions among different organizations that present practical issues and cause confusion among caregivers. An effort was carried out to provide practical evidence-based guidance for caregivers introducing MedDiet during CF.

Update on surveillance guidelines in emerging Wilms tumor predisposition syndromes.

Wilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related paper from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017 but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development. In general, variants in these genes are less likely to be associated with other phenotypic features. Recently, members of the AACR Pediatric Cancer Working Group met to update surveillance guidelines for patients with a predisposition to Wilms tumors with a review of recently published evidence and risk estimates. Risk estimates for Wilms tumor for the more recently described genes are discussed here along with suggested surveillance guidelines for these populations. Several other emerging clinical scenarios associated with Wilms tumor predisposition are also discussed including patients with family histories of Wilms tumor and no identified causative gene, patients with bilateral tumors, and patients with somatic mosaicism for chromosome 11p15.5 alterations. This perspective serves to update pediatric oncologists, geneticists, radiologists, counselors and other healthcare professionals on emerging evidence and harmonize updated surveillance recommendations in the North American and Australian context for patients with emerging forms of Wilms tumor predisposition.

Cervical Cancer Screening: Patient Perspectives on Transitioning to Primary High-Risk Human Papillomavirus Testing Alone.

In 2018, the US Preventive Services Task Force updated cervical cancer screening recommendations to allow for screening every 5 years with primary human papillomavirus (HPV) testing in combination with cytology (cotesting) or every 5 years with primary HPV screening alone. Despite these changes, the uptake of primary HPV screening has been lower than expected. The purpose of this study was to evaluate the patient perspective of an integrated health system transition from cotesting to primary HPV testing among a 30- to 65-year-old cohort. Semistructured phone interviews were conducted from July to December 2023 at Kaiser Permanente Colorado with 16 members aged 30-65 years. Interviews asked about reactions to the forthcoming change in cervical cancer screening, personal concern about cervical cancer risk, feedback on patient-facing education materials, and preference on communication timing and modality. Participants reported concerns about cervical cancer screening intervals, primarily the reduction in frequency leading to underdiagnosis of sexually transmitted infections (STIs). Participants recommended defining the rationale for the change to primary HPV testing in the patient education materials. Participants preferred communication about the change in-clinic between practitioner and patient. The interviews identified key themes, including the differentiation between cervical cancer and STI screening methodologies, potential underdiagnosis of STI and cervical cancer, and the rationale supporting primary HPV testing and associated screening intervals. These qualitative findings can inform health systems of potential patient concerns to address when considering the transition from cotesting every 3 years to primary HPV testing every 5 years for cervical cancer screening.

Economic burden of short-acting beta-2 agonist (SABA) overuse among asthma patients in Türkiye: a cost analysis with respect to the updated GINA treatment recommendations.

This cost of illness study aimed to determine economic burden of short-acting β2-agonist (SABA) overuse in Türkiye from payer perspective with respect to the updated GINA 2022 treatment recommendations. A total of 3,034,879 asthma patients comprised the study population, via estimations extrapolated from the Türkiye arm of the global SABINA III study. The economic burden (costs related to the drug use and severe exacerbations) was compared in subgroups of overall (≥ 0 canisters/year) vs. GINA-recommended (0-2 canisters/year, hypothetical population) SABA use and in subgroups of appropriate use (0-2 canisters/year, real population) vs. overuse (≥ 3 canisters/year) of SABA with extrapolation of SABINA Türkiye data to the Türkiye asthma population. Recommended SABA use was predicted to prevent 127,505 of 157,512 severe exacerbations per year in mild asthma patients and 2,668,916 of 3,262,800 severe exacerbations per year in moderate-severe asthma patients. Annual cost burden of not applying recommended SABA use (overall [≥ 0 canisters/year] vs. GINA-recommended [0-2 canisters/year] SABA use) in mild asthma and moderate-severe asthma patients was calculated to be €20.43 million and €427.65 million in terms of severe exacerbations, and to be €829,352 and €7.20 million in terms of drug costs, respectively. The total annual economic burden arising from not applying recommended SABA use was estimated to be €456.11 million. Appropriate use (0-2 canisters/year) vs. overuse (≥ 3 canisters/year) of SABA was associated with decreased frequency of severe exacerbations per year in mild asthma (from 129,878 to 27,634) and moderate-severe asthma (from 2,834,611 to 428,189) patients. SABA overuse in mild and moderate-severe asthma patients was estimated to yield an additional annual cost of €16.38 million and €385.59 million, respectively in terms of severe exacerbations, and a total €11.30 million additional drug cost. The overall annual economic burden arising from SABA overuse was estimated to be €413.27 million. The estimated annual total economic burden arising from not applying recommended SABA use (€456.11 million) and SABA overuse (€413.27 million) with respect to the updated GINA 2022 treatment recommendations indicates the substantial cost burden of SABA overuse to the Turkish National Health System, corresponding up to 26% of the total direct cost of asthma reported in our country.

Aspirin Hypersensitivity in Patients with Coronary Artery Disease: An Updated Review and Practical Recommendations.

Acetylsalicylic acid (ASA) represents a cornerstone of antiplatelet therapy for the treatment of atherosclerotic coronary artery disease (CAD). ASA is in fact indicated in case of an acute coronary syndrome or after a percutaneous coronary intervention with stent implantation. Aspirin hypersensitivity is frequently reported by patients, and this challenging situation requires a careful evaluation of the true nature of the presumed sensitivity and of its mechanisms, as well as to differentiate it from a more frequent (and more easily manageable) aspirin intolerance. Two main strategies are available to allow ASA administration for patients with CAD and suspected ASA hypersensitivity: a low-dose ASA challenge, aimed at assessing the tolerability of ASA at the antiplatelet dose of 100 mg, and desensitization, a therapeutic procedure which aims to induce tolerance to ASA. For those patients who cannot undergo ASA challenge and desensitization due to previous serious adverse reactions, or for those in whom desensitization was unsuccessful, a number of further alternative strategies are available, even if these have not been validated and approved by guidelines. The aim of this state-of-the-art review is therefore to summarize the established evidence regarding pathophysiology, clinical presentation, diagnosis, and management of aspirin hypersensitivity and to provide a practical guide for cardiologists (and clinicians) who have to face the not uncommon situation of a patient with concomitant coronary artery disease and aspirin hypersensitivity.

Expert Panel Consensus Recommendations for Allergic Rhinitis in Patients with Asthma in India.

Allergic rhinitis and asthma are commonly coexisting conditions, significantly impacting patient health and quality of life. Despite their interrelation, diagnosing allergic rhinitis in patients with asthma remains challenging, leading to underdiagnosis and suboptimal management. The expert consensus engaged a modified Delphi method involving 29 experts including pulmonologists, ear, nose, and throat surgeons, and allergologists. Through group discussions, consensus statements were developed regarding the epidemiology, diagnosis, and management of allergic rhinitis and asthma. Final consensus statements were formulated based on the experts' collective clinical judgment and experience. This expert consensus provides updated recommendations tailored to the Indian context, addressing the gaps in existing research and clinical practice. By promoting a systematic and evidence-based approach to diagnosis and management, this consensus aims to support clinicians in effectively identifying and treating allergic rhinitis in patients with asthma, thereby improving overall disease management and patient well-being.

Update on surveillance for Wilms tumor and hepatoblastoma in Beckwith-Wiedemann Syndrome and other predisposition syndromes.

Wilms tumors are commonly associated with predisposition syndromes many, but not all, of which include overgrowth. Several of these syndromes also include a risk of other embryonal malignancies - particularly hepatoblastoma. Guidelines for surveillance in this population were published in 2017 and recently members of the AACR Pediatric Cancer Working Group met to update those guidelines with a review of more recently published evidence and risk estimates. This perspective serves to update pediatric oncologists, geneticists, radiologists, counselors and other healthcare professionals on revised diagnostic criteria, review previously published surveillance guidelines and harmonize updated surveillance recommendations in the North American and Australian context for patients with overgrowth syndromes and other syndromes associated with Wilms tumor predisposition.

Update on Whole-body MRI Surveillance for Pediatric Cancer Predisposition Syndromes.

Whole-body MRI (WBMRI) is an integral part of screening infants, children and adolescents for pre-symptomatic neoplasms in certain cancer predisposition syndromes (CPS). This includes Li-Fraumeni and Constitutional Mismatch Repair Deficiency syndromes, among others. The list of syndromes where WBMRI adds value, as part of a comprehensive surveillance protocol, continues to evolve in response to new evidence, growing experience and more widespread adoption of WBMRI. In July 2023, the American Association of Cancer Research (AACR) reconvened an international, multidisciplinary panel to revise and update recommendations stemming from the 2016 AACR Special Workshop on Childhood Cancer Predisposition. That initial meeting resulted in a series of publications in Clinical Cancer Research in 2017, including "Pediatric Cancer Predisposition Imaging: Focus on Whole Body MRI". This 2024 review of WBMRI in CPS updates the 2017 WBMRI publication, the revised recommendations derived from the 2023 AACR Childhood Cancer Predisposition Workshop based on available data, societal guidelines and expert opinion. Different aspects of acquiring and interpreting WBMRI including diagnostic accuracy are discussed. Application of WBMRI in resource poor environments, as well as integration of whole-body imaging techniques with emerging technologies such as cell-free DNA, or liquid biopsies, and artificial intelligence/machine learning are also considered.

NEW PERSPECTIVES ON URINALYSIS: RECOMMENDATIONS FROM THE EUROPEAN FEDERATION OF CLINICAL CHEMISTRY AND LABORATORY MEDICINE (EFLM)

This article highlights the significance of the updated recommendations from the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) – Urinalysis Guideline 2023. The guidelines emphasize the need for standardizing laboratory procedures to enhance research quality and reduce diagnostic errors. Based on current scientific data and international standards, these recommendations aim to ensure high reliability and accuracy of laboratory results. The implementation of urinalysis guideline has the potential to significantly improve diagnostic effectiveness, positively impacting the quality of patient care. Attention is also given to new technologies considered in the recommendations, which can greatly facilitate advancements in laboratory medicine. EFLM guidelines are essential for enhancing laboratory practices and maintaining high standards in medical diagnostics.

Redesain User Interface pada Website Pudam Banyuwangi Menggunakan Metode User Centered Design

PUDAM Banyuwangi is a regional public company that provides clean water services to the community with branches in several areas. The PUDAM Banyuwangi website was built with the aim of making company information and services more accessible. It is known, during the creation of the website the company did a refresh which was carried out almost every five years to improve the functionality of the website. however, user experience testing has never been carried out measurably on the website user interface. initial testing was carried out using the User Experience Questionnaire (UEQ) as a user experience measurement tolls by getting results from 51 respondents showing the value of user experience on the website on 6 components, namely attractiveness (-0.12), clarity (0.15), efficiency (0.11), accuracy (-0.04), stimulation (-0.07), novelty (-0.29) so that it falls into the "Bad" criteria. To improve this, research was conducted using the User Centered Design (UCD) approach to analyze user needs and provide design update recommendations based on test results. The results showed that the design update increased the user experience evaluation value with an attractiveness value of (1.67), clarity (1.73), efficiency (1.71), accuracy (1.65), stimulation (1.55), novelty (1.51) so that it fell into the "Good" criteria. This can prove that this research provides recommendations for appropriate design updates to improve the functionality of the PUDAM Banyuwangi website in its development.

Implementation of a Clinical Decision Support System for Antimicrobial Prescribing in Sub-Saharan Africa: Multisectoral Qualitative Study.

Suboptimal use of antimicrobials is a driver of antimicrobial resistance in West Africa. Clinical decision support systems (CDSSs) can facilitate access to updated and reliable recommendations. This study aimed to assess contextual factors that could facilitate the implementation of a CDSS for antimicrobial prescribing in West Africa and Central Africa and to identify tailored implementation strategies. This qualitative study was conducted through 21 semistructured individual interviews via videoconference with health care professionals between September and December 2020. Participants were recruited using purposive sampling in a transnational capacity-building network for hospital preparedness in West Africa. The interview guide included multiple constructs derived from the Consolidated Framework for Implementation Research. Interviews were transcribed, and data were analyzed using thematic analysis. The panel of participants included health practitioners (12/21, 57%), health actors trained in engineering (2/21, 10%), project managers (3/21, 14%), antimicrobial resistance research experts (2/21, 10%), a clinical microbiologist (1/21, 5%), and an anthropologist (1/21, 5%). Contextual factors influencing the implementation of eHealth tools existed at the individual, health care system, and national levels. At the individual level, the main challenge was to design a user-centered CDSS adapted to the prescriber's clinical routine and structural constraints. Most of the participants stated that the CDSS should not only target physicians in academic hospitals who can use their network to disseminate the tool but also general practitioners, primary care nurses, midwives, and other health care workers who are the main prescribers of antimicrobials in rural areas of West Africa. The heterogeneity in antimicrobial prescribing training among prescribers was a significant challenge to the use of a common CDSS. At the country level, weak pharmaceutical regulations, the lack of official guidelines for antimicrobial prescribing, limited access to clinical microbiology laboratories, self-medication, and disparity in health care coverage lead to inappropriate antimicrobial use and could limit the implementation and diffusion of CDSS for antimicrobial prescribing. Participants emphasized the importance of building a solid eHealth ecosystem in their countries by establishing academic partnerships, developing physician networks, and involving diverse stakeholders to address challenges. Additional implementation strategies included conducting a local needs assessment, identifying early adopters, promoting network weaving, using implementation advisers, and creating a learning collaborative. Participants noted that a CDSS for antimicrobial prescribing could be a powerful tool for the development and dissemination of official guidelines for infectious diseases in West Africa. These results suggest that a CDSS for antimicrobial prescribing adapted for nonspecialized prescribers could have a role in improving clinical decisions. They also confirm the relevance of adopting a cross-disciplinary approach with participants from different backgrounds to assess contextual factors, including social, political, and economic determinants.

Recommendations for Updates to Emergency Medical Kits for Commercial Aviation

INTRODUCTION: Emergency medical kits (EMK) are provided to clinicians who volunteer on commercial aircraft during a medical emergency. The contents of the EMKs are mandated by the Federal Aviation Administration in the United States and, internationally, by the International Civil Aviation Organization and the country of airline origin. The mandatory contents of the kits have not been updated by the Federal Aviation Administration since 2006, and the EMKs continue to lack key equipment such as automated blood pressure cuffs, glucometers, pulse oximeters, and epinephrine autoinjectors. Of further concern is a lack of standardized and centralized reporting for in-flight medical events that, if it existed, could better inform the contents of the kits. This commentary is intended to advocate for an update to the EMKs in the United States given the authors’ experiences with in-flight medical events. Rajagopal AB, Pissaris A, Clark K, Merrill A, Glatter R, Ho A, Towle DC, Yanuck J, Lahham S, Ulin L, Fischetti C, Apisa L. Recommendations for updates to emergency medical kits for commercial aviation. Aerosp Med Hum Perform. 2024; 95(10):794–796.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Genomic instability disorders are characterized by DNA or chromosomal instability resulting in various clinical manifestations including developmental anomalies, immunodeficiency, and increased risk to develop cancers beginning in childhood. Many of these genomic instability disorders also present with exquisite sensitivity to anticancer treatments such as ionizing radiation and chemotherapy, which may further increase the risk of second cancers. In July 2023, the American Association of Cancer Research held the second Childhood Cancer Predisposition Workshop where multidisciplinary international experts discussed, reviewed, and updated recommendations for children with cancer predisposition syndromes. This article will discuss childhood cancer risks and surveillance recommendations for the group of genomic instability disorders with predominantly recessive inheritance, including the DNA repair disorders ataxia telangiectasia, Nijmegen breakage syndrome, Fanconi anemia, Xeroderma Pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome, as well as the telomere biology disorders and mosaic variegated aneuploidy. Recognition of children with genomic instability disorders is important in order to make the proper diagnosis, enable genetic counseling, and inform cancer screening, cancer risk reduction, and choice of anti-cancer therapy.

Updates to Incontinence After Prostate Treatment: AUA/GURS/SUFU Guideline (2024).

In 2023 the American Urological Association (AUA) requested an Update Literature Review (ULR) to incorporate new evidence generated since the 2019 publication of this Guideline. The resulting 2024 Guideline Amendment addresses updated recommendations to provide guidance for the care of patients with incontinence after prostate treatment (IPT). In 2023, the IPT Guideline was updated through the AUA amendment process in which newly published literature is reviewed and integrated into previously published guidelines. There were 82 studies of interest initially identified in preliminary abstract review. Following full-text review, 17 studies met inclusion criteria and ultimately informed the statements of interest. The Panel developed evidence- and consensus-based statements based on an updated review to provide guidance for the care of patients who experience IPT. These updates are detailed herein. As prostate treatments are refined, a decreasing incidence of incontinence is anticipated. This Guideline will require further review as the diagnostic and treatment options for patients with IPT continue to evolve.

Patient research partner involvement in rheumatology research: a systematic literature review informing the 2023 updated EULAR recommendations for the involvement of patient research partners

BackgroundPatient research partners (PRPs) are people with a disease who collaborate in a research team as partners. The aim of this systematic literature review (SLR) was to assess barriers and...

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.

Neurofibromatosis type 1 (NF1), Noonan syndrome and related syndromes, grouped as the RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinical phenotypes. Together the RASopathies are among the more prevalent genetic cancer predisposition syndromes and require nuanced clinical management. When compared to the general population, children with RASopathies are at significantly increased risk of benign and malignant neoplasms. In the last decade, clinical trials have shown that targeted therapies can improve outcomes for low-grade and benign neoplastic lesions but have their own challenges, highlighting the multi-disciplinary care needed for such individuals, specifically those with NF1. This perspective, which originated from the 2023 AACR Childhood Cancer Predisposition Workshop, serves to update pediatric oncologists, neurologists, geneticists, counselors, and other healthcare professionals on revised diagnostic criteria, review previously published surveillance guidelines, and harmonize updated surveillance recommendations for patients with NF1 or RASopathies.