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Publication Metadata only 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials(Elsevier B.V., 2023) Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants.; Oflazer, Piraye; ; School of Medicine;Highlights This ENMC workshop has seen the participation of many important stakeholders working together to improve trial readiness in FSHD: patients and patients’ organizations (FSHD-Europe, FSHD-Society and FSHD Global), neuromuscular clinicians, geneticists, basic researchers, representatives of the TREAT-NMD network, the FSHD-CTRN and EMA. COMs represent useful tools for the standardized collection of clinical features but need to be selected to match the clinical setting of use. For patient care, they need to be informative, with practical and time efficient utility so as not to detract from clinical care. For clinical trial purposes, the need to be reliable, valid, meaningful and sensitive to change to better depict therapeutic responses. An optimized clinical evaluation and genetic test form is one of the goals of WG1 and 2. A diagnostic flowchart for FSHD1 and FSHD2 has been proposed. Another important unmet need for clinical trial readiness in FSHD is the identification of good therapeutic biomarkers, which ideally should be quantitative, non-invasive, applicable across the entire range of disease severity, sensitive to change, reliable and clinically meaningful. The WG 3 will produce standard operating procedures (SOPs) for DUX4 detection. Similarly, large differences in the reporting of studies performed on animal models, thus hindering interpretation, repeatability and comparison of the results need to be addressed. Guidelines regarding minimum information for publication of work including animal models for FSHD will therefore be published.Publication Metadata only A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry(Nature Portfolio, 2024) Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele; Oflazer, Piraye; Başak, Ayşe Nazlı; Kayserili, Hülya; ; School of Medicine;Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG center dot CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG center dot CCG repeat motif and a specific pattern of muscle weakness.Publication Metadata only A study on the early metabolic effects of salt and fructose consumption: the protective role of water(Springer, 2024) Hasbal, Nuri Barış; Siriopol, Dimitrie; Sanchez-Lozada, Laura G.; Lanaspa, Miguel A.; Johnson, Richard J.; Bakır, Çiçek Nur; İncir, Said; Kanbay, Mehmet; ; School of Medicine;Increasing serum osmolality has recently been linked with acute stress responses, which over time can lead to increased risk for obesity, hypertension, and other chronic diseases. Salt and fructose are two major stimuli that can induce acute changes in serum osmolality. Here we investigate the early metabolic effects of sodium and fructose consumption and determine whether the effects of sodium or fructose loading can be mitigated by blocking the change in osmolality with hydration. Forty-four healthy subjects without disease and medication were recruited into four groups. After overnight fasting, subjects in Group 1 drank 500 mL of salty soup, while those in Group 2 drank 500 mL of soup without salt for 15 min. Subjects in Group 3 drank 500 mL of 100% apple juice in 5 min, while subjects in Group 4 drank 500 mL of 100% apple juice and 500 mL of water in 5 min. Blood pressure (BP), plasma sodium, and glucose levels were measured every 15 min in the first 2 h. Serum and urine osmolarity, serum uric acid, cortisol, fibroblast growth factor 21 (FGF21), aldosterone, adrenocorticotropic hormone (ACTH) level, and plasma renin activity (PRA) were measured at the baseline and 2 h. Both acute intake of salt or fructose increased serum osmolality (maximum similar to 4 mOsm/L peaking at 75 min) associated with a rise in systolic and diastolic BP, PRA, aldosterone, ACTH, cortisol, plasma glucose, uric acid, and FGF21. Salt tended to cause greater activation of the renin-angiotensin-system (RAS), while fructose caused a greater rise in glucose and FGF21. In both cases, hydration could prevent the osmolality and largely block the acute stress response. Acute changes in serum osmolality can induce remarkable activation of the ACTH-cortisol, RAS, glucose metabolism, and uric acid axis that is responsive to hydration. In addition to classic dehydration, salt, and fructose-containing sugars can activate these responses. Staying well hydrated may provide benefits despite exposure to sugar and salt. More studies are needed to investigate whether hydration can block the chronic effects of sugar and salt on disease.Publication Metadata only Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)(Nature Research, 2023) Lange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J.; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Trinh, Joanne; Lange, Lara M.; Sharma, Manu; Groppa, Sergio; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrøm, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Paul, Krack; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Serena; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazl; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Noyce, Alastair; Martínez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Singleton, Andrew B.; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Vitale, Dan; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Leonard, Hampton; Iwaki, Hirotaka; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Makarious, Mary B.; Koretsky, Mathew; Inca-Martinez, Miguel; Nalls, Mike A.; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Başak, Ayşe Nazlı; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; ; School of Medicine;Correction to: npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below. © 2023, Springer Nature Limited.Publication Metadata only Can we predict and manage persistent storage and voiding LUTS following bladder outflow resistance reduction surgery in men? ICI-RS 2023(Wiley, 2024) Hashim, Hashim; Malde, Sachin; Sinha, Sanjay; Sahai, Arun; Selai, Caroline; Agro, Enrico Finazzi; Abrams, Paul; Wein, Alan; Tarcan, Tufan; Acar, Ömer; ; School of Medicine;Aims Lower urinary tract symptoms (LUTS) persist in up to 50% of patients after bladder outflow resistance reduction surgery (BORRS) in men. Our think tank aims to address the predictive factors for persistent LUTS after BORRS and to propose the recommendations for future research to enable improved better patient counseling and selection by more accurate prediction of treatment outcome.MethodsA think tank of ICI-RS gathered in 2023, Bristol, UK, to discuss the pre and postsurgical clinical and urodynamic evaluation of men undergoing BORRS and whether it is possible to predict which men will have persistent LUTS after BORRS.ResultsOur think tank agrees that due to the multifactorial, and still not fully understood, etiology of male LUTS it is not possible to precisely predict in many men who will have persistent LUTS after BORRS. However, severe storage symptoms (overactive bladder, OAB) in association with low volume and high amplitude detrusor overactivity and low bladder capacity in preoperative urodynamics, increase the likelihood of persistent OAB/storage symptoms after BORRS. Furthermore, patients who are clearly obstructed and have good bladder contractility on preoperative pressure flow studies do better postoperatively compared to their counterparts. However, the benefit of pressure flow studies is decreased in patients who do not acceptably void during the study. Poor voiding after BORRS may occur due to persistent obstruction or detrusor underactivity.ConclusionFuture research is needed to increase our understanding of why male LUTS persist after surgery, and to enable better patient selection and more precise patient counseling before BORRS.Publication Metadata only Can we predict whether a man with acute or chronic urinary retention will void after bladder outflow resistance reduction surgery? ICI-RS 2023(Wiley, 2024) Malde, Sachin; Sinha, Sanjay; Sahai, Arun; Perrouin-Verbe, Marie-Aimee; Hashim, Hashim; Agro, Enrico Finazzi; Wein, Alan; Abrams, Paul; Tarcan, Tufan; Acar, Ömer; ; School of Medicine;Aims To address the predictive factors of a successful voiding after bladder outflow resistance reduction surgery (BORRS) in men presenting with acute or chronic urinary retention (UR).MethodsA think tank (TT) of ICI-RS was gathered in 2023, Bristol, UK, to discuss several aspects of the problem, such as the pathophysiology of UR, the clinical and urodynamic evaluation of men with UR and whether it is possible to predict which men will be able to successfully void after treatment with contemporary surgical options.ResultsThe TT agreed that successful voiding after BORRS depends on several factors but that a strong recommendation cannot be made regarding preoperative evaluation and whether there are predictive factors of success because of the heterogeneity of patients and methodology in published trials. The diagnosis of obstruction in men with UR may be challenging when there is apparent reduced detrusor contraction during urodynamic studies. Even in the absence of bladder contractility there is documentation of such cases that have voided adequately after BORRS. Still, detrusor underactivity and inadequate relief of prostatic obstruction are the main causes of an unsuccessful voiding after BORRS. Conventional resection and enucleation methods remain the most successful surgeries in relieving UR in men, whereas the efficacy of minimally invasive surgical treatments needs to be assessed further.ConclusionResearch is needed to understand the pathophysiology of UR and the predictors of successful voiding after different types of BORRS in men with UR.Publication Metadata only Causes of delays in starting postoperative radiotherapy among head and neck cancer patients(Wiley, 2024) Topkan, Erkan; Somay, Efsun; Selek, Uğur; ; School of Medicine;To the Editor, Duckett et al deserve admiration for their comprehen-sive meta-analysis and systemic review of the prevalence of postoperative radiotherapy (PORT) delay and assessment of variations among care delivery settings in head and neck cancer (HNC) patients.1 The present systematic review comprised 36 studies, while the meta-analysis covered 14 studies. The meta-analysis revealed that nearly half of patients (48.6%) underwent PORT after a lapse of >6 weeks following surgery. The median and mean surgery-to-PORT (S-PORT) time were 45.8 and 47.4 days, respectively. Despite the well-proven adverse impact of extended S-PORT on patient outcomes, these findings confirm that many HNC patients are not receiving PORT on time. Although it is not feasible to eliminate all factors that prolong S-PORT, we would like to emphasize the significance of two manageable factors that may contribute to the authors' discussion on methods for preventing such delays.Publication Metadata only Correction to: Microsurgical anatomy of the isthmic cingulum: a new white matter crossroad and neurosurgical implications in the posteromedial interhemispheric approaches and the glioma invasion patterns(Springer, 2023) Saygi, Tahsin; Avyasov, Rashid; Barut, Ozan; Daglar, Zeynep; Hasimoglu, Ozan; Altinkaya, Ayca; Tanriover, Necmettin; Baran, Oğuz; ; School of Medicine;The authors regret that references and reference citations that appears in the original article are incorrect due to the inadvertent omission of two already listed References within the main text of the original article. The original article has been corrected. © 2023, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Publication Metadata only Deep 3D histology powered by tissue clearing, omics and AI(Nature Portfolio, 2024) ; Ertürk, Ali Maximilian; ; School of Medicine;To comprehensively understand tissue and organism physiology and pathophysiology, it is essential to create complete three-dimensional (3D) cellular maps. These maps require structural data, such as the 3D configuration and positioning of tissues and cells, and molecular data on the constitution of each cell, spanning from the DNA sequence to protein expression. While single-cell transcriptomics is illuminating the cellular and molecular diversity across species and tissues, the 3D spatial context of these molecular data is often overlooked. Here, I discuss emerging 3D tissue histology techniques that add the missing third spatial dimension to biomedical research. Through innovations in tissue-clearing chemistry, labeling and volumetric imaging that enhance 3D reconstructions and their synergy with molecular techniques, these technologies will provide detailed blueprints of entire organs or organisms at the cellular level. Machine learning, especially deep learning, will be essential for extracting meaningful insights from the vast data. Further development of integrated structural, molecular and computational methods will unlock the full potential of next-generation 3D histology. This Perspective discusses the methods and tools required for three-dimensional histology in large samples, an approach that promises insights into tissue and organ physiology as well as disease.Publication Metadata only Dermatologist-like explainable AI enhances trust and confidence in diagnosing melanoma(Nature Research, 2024) Chanda, Tirtha; Hauser, Katja; Hobelsberger, Sarah; Bucher, Tabea-Clara; Garcia, Carina Nogueira; Wies, Christoph; Kittler, Harald; Tschandl, Philipp; Navarrete-Dechent, Cristian; Podlipnik, Sebastian; Chousakos, Emmanouil; Crnaric, Iva; Majstorovic, Jovana; Alhajwan, Linda; Foreman, Tanya; Peternel, Sandra; Sarap, Sergei; Özdemir, İrem; Barnhill, Raymond L.; Llamas-Velasco, Mar; Poch, Gabriela; Korsing, Sören; Sondermann, Wiebke; Gellrich, Frank Friedrich; Heppt, Markus V.; Erdmann, Michael; Haferkamp, Sebastian; Drexler, Konstantin; Goebeler, Matthias; Schilling, Bastian; Utikal, Jochen S.; Ghoreschi, Kamran; Fröhling, Stefan; Krieghoff-Henning, Eva; Salava, Alexander; Thiem, Alexander; Dimitrios, Alexandris; Ammar, Amr Mohammad; Vučemilović, Ana Sanader; Yoshimura, Andrea Miyuki; Ilieva, Andzelka; Gesierich, Anja; Reimer-Taschenbrecker, Antonia; Kolios, Antonios G. A.; Kalva, Arturs; Ferhatosmanoğlu, Arzu; Beyens, Aude; Pföhler, Claudia; Erdil, Dilara İlhan; Jovanovic, Dobrila; Racz, Emoke; Bechara, Falk G.; Vaccaro, Federico; Dimitriou, Florentia; Cenk, Hulya; Yanatma, İrem; Kolm, Isabel; Hoorens, Isabelle; Sheshova, Iskra Petrovska; Jocic, Ivana; Knuever, Jana; Fleißner, Janik; Thamm, Janis Raphael; Dahlberg, Johan; Lluch-Galcerá, Juan José; Figueroa, Juan Sebastián Andreani; Holzgruber, Julia; Welzel, Julia; Damevska, Katerina; Mayer, Kristine Elisabeth; Maul, Lara Valeska; Garzona-Navas, Laura; Bley, Laura Isabell; Schmitt, Laurenz; Reipen, Lena; Shafik, Lidia; Petrovska, Lidija; Golle, Linda; Jopen, Luise; Gogilidze, Magda; Burg, Maria Rosa; Morales-Sánchez, Martha Alejandra; Sławińska, Martyna; Mengoni, Miriam; Dragolov, Miroslav; Iglesias-Pena, Nicolás; Booken, Nina; Enechukwu, Nkechi Anne; Persa, Oana-Diana; Oninla, Olumayowa Abimbola; Theofilogiannakou, Panagiota; Kage, Paula; Neto, Roque Rafael Oliveira; Peralta, Rosario; Afiouni, Rym; Schuh, Sandra; Schnabl-Scheu, Saskia; Hudson, Sharon; Saa, Sonia Rodriguez; Hartmann, Sören; Damevska, Stefana; Finck, Stefanie; Braun, Stephan Alexander; Hartmann, Tim; Welponer, Tobias; Sotirovski, Tomica; Bondare-Ansberga, Vanda; Ahlgrimm-Siess, Verena; Frings, Verena Gerlinde; Simeonovski, Viktor; Zafirovik, Zorica; Maul, Julia-Tatjana; Lehr, Saskia; Wobser, Marion; Debus, Dirk; Riad, Hassan; Pereira, Manuel P.; Lengyel, Zsuzsanna; Balcere, Alise; Tsakiri, Amalia; Braun, Ralph P.; Brinker, Titus J.; Rasulova, Günel; Vural, Seçil; ; School of Medicine;Artificial intelligence (AI) systems have been shown to help dermatologists diagnose melanoma more accurately, however they lack transparency, hindering user acceptance. Explainable AI (XAI) methods can help to increase transparency, yet often lack precise, domain-specific explanations. Moreover, the impact of XAI methods on dermatologists’ decisions has not yet been evaluated. Building upon previous research, we introduce an XAI system that provides precise and domain-specific explanations alongside its differential diagnoses of melanomas and nevi. Through a three-phase study, we assess its impact on dermatologists’ diagnostic accuracy, diagnostic confidence, and trust in the XAI-support. Our results show strong alignment between XAI and dermatologist explanations. We also show that dermatologists’ confidence in their diagnoses, and their trust in the support system significantly increase with XAI compared to conventional AI. This study highlights dermatologists’ willingness to adopt such XAI systems, promoting future use in the clinic. © 2024, The Author(s).