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A polygenic inheritance involving high, medium and low penetrance genes has been suggested for melanoma susceptibility in adults, but genetic information is scarce for paediatric patients.We aim to analyse the major high and intermediate melanoma risk genes, CDKN2A, CDK4, POT1, MITF and MC1R, in a large multicentre cohort of Italian children and adolescents in order to explore the genetic context of paediatric melanoma and to reveal potential differences in heritability between children and adolescents.One-hundred-twenty-three patients (21 years) from nine Italian centres were analysed for the CDKN2A, CDK4, POT1, MITF, and MC1R melanoma predisposing genes. The rate of gene variants was compared between sporadic, familial and multiple melanoma patients and between children and adolescents, and their association with clinico-pathological characteristics was evaluated.Most patients carried MC1R variants (67%), while CDKN2A pathogenic variants were found in 9% of the cases, the MITF E318K in 2% of patients and none carried CDK4 or the POT1 S270N pathogenic variant. Sporadic melanoma patients significantly differed from familial and multiple cases for the young age at diagnosis, infrequent red hair colour, low number of nevi, low frequency of CDKN2A pathogenic variants and of the MC1R R160W variant. Melanoma in children (≤12 years) had more frequently spitzoid histotype, were located on the head/neck and upper limbs and had higher Breslow thickness. The MC1R V92M variant was more common in children than in adolescents. CDKN2A common polymorphisms and MC1R variants were associated with a high number of nevi.Our results confirm the scarce involvement of the major high-risk susceptibility genes in paediatric melanoma and suggest the implication of MC1R gene variants especially in the children population.

Introduction: The Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) system and scoring scale has proven to be an accurate and time-efficient imaging method for identifying joint damage in patients with haemophilia. Aim: Observational, multicentre, cross-sectional study conducted in 8 centres in Spain that assessed the joint status of adult patients with severe haemophilia A (SHA) using HEAD-US. Methods: Joint status of the elbow, knee and ankle was evaluated in adults with SHA receiving on-demand (OD) treatment, or primary (PP), secondary (SP), tertiary (TP) or intermittent (IP) prophylaxis. Results: Of the 95 patients enrolled, 87 received prophylaxis (6.3% PP, 38.9% SP, 43.2% TP and 3.2% IP). Mean age was 35.2 years, and 59% of patients had not undergone image testing in the last year. The HEAD-US score was 0 in all joints in 6.3% of patients. The ankle was the most affected joint, regardless of treatment regimen. Patients receiving OD treatment, TP or IP had the overall worst scores, mainly in the ankles and elbows; a similar but milder profile was observed in patients on SP; and patients on PP had the best score in all joints. Conclusion: Joint function may be effectively preserved in patients with SHA on PP, but OD treatment or later initiation of prophylaxis does not seem to prevent progression of arthropathy. Disease worsening was observed in patients OD, TP or IP, most often affecting ankles and elbows. Closer ultrasound imaging monitoring may improve management of these patients.

Introduction: For persons with hemophilia, optimization of joint outcomes is an important unmet need. The aim of this initiative was to determine use of ultrasound in evaluating arthropathy in persons with hemophilia, and to move toward consensus among hemophilia care providers regarding the preferred ultrasound protocols for global adaptation. Methods: A global survey of hemophilia treatment centers was conducted that focused on understanding how and why ultrasound was being used and endeavored to move toward consensus definitions of both point-of-care musculoskeletal ultrasound (POC-MSKUS) and full diagnostic ultrasound, terminology to describe structures being assessed by ultrasound, and how these assessments should be interpreted. Next, an in-person meeting of an international group of hemophilia health care professionals and patient representatives was held, with the objective of achieving consensus regarding the acquisition and interpretation of POC-MSKUS and full diagnostic ultrasound for use in the assessment of musculoskeletal (MSK) pathologies in persons with hemophilia. Results: The recommendations were that clear definitions of the types of ultrasound examinations should be adopted and that a standardized ultrasound scoring/measurement system should be developed, tested, and implemented. The scoring/measurement system should be tiered to allow for a range of complexity yet maintain the ability for comparison across levels. Conclusion: Ultrasound is an evolving technology increasingly used for the assessment of MSK outcomes in persons with hemophilia. As adoption increases globally for clinical care and research, it will become increasingly important to establish clear guidelines for image acquisition, interpretation, and reporting to ensure accuracy, consistency, and comparability across groups. © 2021 The authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis(ISTH).

A migrant from Palestine came to our attention for weakness of dorsiflexion of the left foot and hypoesthesia of the homolateral common peroneal nerve territory. Skin biopsies from skin lesions in the hypoesthetic area were not diagnostic. Radiological investigation showed focal nerve enlargement with a possible focal lesion. At this time, and given the uncertainty of the diagnosis, we had to choose between medical therapy with steroid and a surgical exploration of the nerve. We decided for the latter option. Intraoperatively, we found a focal round enlargement of the nerve. Epineurotomy was performed at that level, revealing a round caseous granulomatous mass that was excised. Microbiological examination revealed presence of Mycobacterium Leprae allowing diagnosis of leprosy. Medical therapy was then started, leading to resolution of clinical symptoms. Endoneural lepromatous abscesses are uncommon lesions that should be suspected in patients presenting with peripheral nerve dysfunction with anamnesis of travel in leprosy endemic regions or contacts with people from endemic regions with or even without skin lesions. Detection of endoneural abscesses is of critical importance because prompt surgical excision in conjunction with medical therapy leads to improvement of symptoms and permits correct diagnosis. In times of large human migrations from leprosy endemic areas, knowledge of this uncommon presentation of leprosy and its management will help lead to the best management of these patients., Journal of Preventive Medicine and Hygiene, Vol. 61 No. 2 (2020): 2020612

Background: Image-guided interventional procedures around the shoulder are commonly performed in clinical practice, although evidence regarding their effectiveness is scarce. We report the results of a Delphi method review of evidence on literature published on image-guided interventional procedures around the shoulder with a list of clinical indications. Methods: Forty-five experts in image-guided musculoskeletal procedures from the ESSR participated in a consensus study using the Delphic method. Peer-reviewed papers regarding interventional procedures around the shoulder up to September 2018 were scored according to the Oxford Centre for Evidence-based Medicine levels of evidence. Statements on clinical indications were constructed. Consensus was considered as strong if more than 95% of experts agreed and as broad if more than 80% agreed. Results: A total of 20 statements were drafted, and 5 reached the highest level of evidence. There were 10 statements about tendon procedures, 6 about intra-articular procedures, and 4 about intrabursal injections. Strong consensus was obtained in 16 of them (80%), while 4 received broad consensus (20%). Conclusions: Literature evidence on image-guided interventional procedures around the shoulder is limited. A strong consensus has been reached for 80% of statements. The ESSR recommends further research to potentially influence treatment options, patient outcomes, and social impact. Key Points: • Expert consensus produced a list of 20 evidence-based statements on clinical indications of image-guided interventional procedures around the shoulder. • The highest level of evidence was reached for five statements. • Strong consensus was obtained for 16 statements (80%), while 4 received broad consensus (20%). © 2019, European Society of Radiology.

Background: Although image-guided interventional procedures of the elbow and wrist are routinely performed, there is poor evidence in the literature concerning such treatments. Our aim was to perform a Delphi-based consensus on published evidence on image-guided interventional procedures around the elbow and wrist and provide clinical indications on this topic. Methods: A board of 45 experts in image-guided interventional musculoskeletal procedures from the European Society of Musculoskeletal Radiology were involved in this Delphi-based consensus study. All panelists reviewed and scored published papers on image-guided interventional procedures around the elbow and wrist updated to September 2018 according to the Oxford Centre for Evidence-based Medicine levels of evidence. Consensus on statements drafted by the panelists about clinical indications was considered as “strong” when more than 95% of panelists agreed and as “broad” if more than 80% agreed. Results: Eighteen statements were drafted, 12 about tendon procedures and 6 about intra-articular procedures. Only statement #15 reached the highest level of evidence (ultrasound-guided steroid wrist injections result in greater pain reduction and greater likelihood of attaining clinically important improvement). Seventeen statements received strong consensus (94%), while one received broad consensus (6%). Conclusions: There is still poor evidence in published papers on image-guided interventional procedures around the elbow and wrist. A strong consensus has been achieved in 17/18 (94%) statements provided by the panel on clinical indications. Large prospective randomized trials are needed to better define the role of these procedures in clinical practice. Key Points: • The panel provided 18 evidence-based statements on clinical indications of image-guided interventional procedures around the elbow and wrist. • Only statement #15 reached the highest level of evidence: ultrasound-guided steroid wrist injections result in greater pain reduction and greater likelihood of attaining clinically important improvement. • Seventeen statements received strong consensus (94%), while broad consensus was obtained by 1 statement (6%). © 2019, European Society of Radiology.

Background: Image-guided interventional procedures of the nerves are commonly performed by physicians from different medical specialties, although there is a lack of clinical indications for these types of procedures. This Delphi-based consensus provided a list of indications on image-guided interventional procedures for nerves of the upper limb based on updated published evidence. Methods: An expert panel of 45 members of the Ultrasound and Interventional Subcommittees of the ESSR participated in this Delphi-based consensus study. After revision of the published papers on image-guided interventional procedures for nerves of the upper limb updated to September 2018, the experts drafted a list of statements according to the Oxford Centre for evidence-based medicine levels of evidence. Consensus on statements regarding clinical indications was considered as strong when more than 95% of experts agreed, and broad if more than 80% agreed. Results: Ten statements were drafted on procedures for nerves of the upper limb. Only two statements reached the highest level of evidence (ultrasound guidance is a safe and effective method for brachial plexus block; ultrasound-guided non-surgical approaches are safe and effective methods to treat carpal tunnel syndrome in the short term, but there is sparse evidence on the mid- and long-term effectiveness of these interventions). Strong consensus was obtained on 6/10 statements (60%), while 4/10 statements reached broad consensus (40%). Conclusions: This Delphi-based consensus study reported poor evidence on image-guided interventional procedures for nerves of the upper limb. Sixty percent of statements on clinical indications provided by the expert board reached a strong consensus. Key Points: • An expert panel of the ESSR provided 10 evidence-based statements on clinical indications for image-guided interventional procedures for nerves of the upper limb • Two statements reached the highest level of evidence • Strong consensus was obtained on 6/10 statements (60%), while 4/10 statements reached broad consensus (40%) © 2019, European Society of Radiology.