Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1 by Qu Deng, Ramakrishnan Natesan, Florencia Cidre-Aranaz, Shehbeel Arif, Ying Liu, Reyaz ur Rasool, Pei Wang, Erick Mitchell-Velasquez, Chandan Kanta Das, Endrit Vinca, Zvi Cramer, Patrick J. Grohar, Margaret Chou, Chandan Kumar-Sinha, Kristy Weber, T.S. Karin Eisinger-Mathason, Nicolas Grillet, Thomas Grünewald, Irfan A. Asangani

“…Summary: Ewing sarcoma (EwS) is a highly aggressive tumor of bone and soft tissues that mostly affects children and adolescents. The pathognomonic oncofusion EWSR1::FLI1 transcription factor drives EwS by orchestrating an oncogenic transcription program through de novo enhancers. …”
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Clinical and prognostic characteristics of <I>BRCA1/2</I>-associated breast cancer depending on the type of mutation: estrogen signaling pathway and secondary tumors by A. I. Stukan, A. Yu. Goryainova, R. A. Murashko, Z. K. Khachmamuk, O. Yu. Chukhray, S. D. Maksimenko, O. A. Goncharova, E. N. Imyanitov, V. A. Porkhanov

“…At the same time, a triple negative tumor phenotype is not an absolute pathognomonic sign of BRCA1 / 2-associated cancer, where luminal phenotypes are being detected increasingly. …”
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Exploring the Endothelin-1 pathway in chronic thromboembolic pulmonary hypertension microvasculopathy by Benchenouf Feriel, Cuomo Alessandra, Gorth J. Deborah, Normand Corinne, Thuillet Raphaël, Ottaviani Mina, Akamkam Ali, Menager Jean-Baptiste, Fadel Guillaume, Grynblat Julien, Ghigna Maria-Rosa, Fadel Elie, Savale Laurent, Mercier Olaf, Tu Ly, Humbert Marc, Guignabert Christophe

“…We used an in vitro system to test the hypothesis that the turbulent flow, observed near the vascular obstructions pathognomonic of CTEPH, enhances ET-1 expression. Our findings were further validated in vivo using a CTEPH piglet model that contains distinct regions representing pre- and post-thrombus lung territories. …”
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation by Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea

“…Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly established, that of missense variations is difficult to determine. …”
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Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports by Margareta Fistrek Prlic, Sanda Huljev Frkovic, Sanda Huljev Frkovic, Bodo Beck, Ivana Tonkovic Durisevic, Stela Bulimbasic, Stela Bulimbasic, Marijana Coric, Marijana Coric, Lovro Lamot, Lovro Lamot, Ema Ivandic, Ivana Vukovic Brinar, Ivana Vukovic Brinar

“…Renal cysts are not pathognomonic for any of the named diseases. End-stage renal disease (ESRD) develops at the average age of 45, but this can be very variable. …”
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Amyloid PET across the cognitive spectrum in former professional and college American football players: findings from the DIAGNOSE CTE Research Project by Robert A. Stern, Diana Trujillo-Rodriguez, Yorghos Tripodis, Surya V. Pulukuri, Michael L. Alosco, Charles H. Adler, Laura J. Balcer, Charles Bernick, Zachary Baucom, Kenneth L. Marek, Michael D. McClean, Keith A. Johnson, Ann C. McKee, Thor D. Stein, Jesse Mez, Joseph N. Palmisano, Jeffrey L. Cummings, Martha E. Shenton, Eric M. Reiman, for the DIAGNOSE CTE Research Project Investigators

“…Abstract Background Exposure to repetitive head impacts (RHI) in American football players can lead to cognitive impairment and dementia due to neurodegenerative disease, particularly chronic traumatic encephalopathy (CTE). The pathognomonic lesion of CTE consists of perivascular aggregates of hyper-phosphorylated tau in neurons at the depths of cortical sulci. …”
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Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency by Katharina Hahn, Liart Pollmann, Juliette Nowak, Ariane Hai Ha Nguyen, Kathrin Haake, Anna-Lena Neehus, Syed F. Hassnain Waqas, Frank Pessler, Ulrich Baumann, Miriam Hetzel, Jean-Laurent Casanova, Ansgar Schulz, Jacinta Bustamante, Mania Ackermann, Nico Lachmann

“…Affected patients present a pathognomonic predisposition to recurrent and severe infections with environmental mycobacteria or the Mycobacterium bovis bacillus Calmette-Guérin (BCG) vaccine. …”
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The Diagnostic Performance of Multi-Detector Computed Tomography (MDCT) in Depiction of Acute Spondylodiscitis in an Emergency Department by Alberto Negro, Francesco Somma, Mario Tortora, Marina Lugarà, Stefania Tamburrini, Maria Gabriella Coppola, Valeria Piscitelli, Fabrizio Fasano, Carmine Sicignano, Ottavia Vargas, Gianvito Pace, Mariarosaria Giardiello, Michele Iannuzzi, Gabriella Toro, Fiore De Simone, Marco Catalano, Roberto Carbone, Concetta Rocco, Pietro Paolo Saturnino, Luigi Della Gatta, Alessandro Villa, Fabio Tortora, Laura Gemini, Ferdinando Caranci, Vincenzo D’Agostino

“…In addition, MDCT allowed the identification of paravertebral abscesses (92%), fairly pathognomonic lesions of spondylodiscitis pathology. …”
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Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping? by Aurore Curie, Gaëlle Friocourt, Vincent des Portes, Alice Roy, Tatjana Nazir, Amandine Brun, Anne Cheylus, Pascale Marcorelles, Kalliroi Retzepi, Nasim Maleki, Gérald Bussy, Yves Paulignan, Anne Reboul, Danielle Ibarrola, Jian Kong, Nouchine Hadjikhani, Annie Laquerrière, Randy L. Gollub

“…The most frequent mutation found in the ARX gene, a duplication of 24 base pairs (c.429_452dup24) in exon 2, results in a recognizable syndrome in which patients present ID without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip, described as developmental Limb Kinetic Apraxia (LKA).In this study, we first present ARX expression during human fetal brain development showing that it is strongly expressed in GABAergic neuronal progenitors during the second and third trimester of pregnancy. …”
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New insights on neurodegeneration triggered by iron accumulation: Intersections with neutral lipid metabolism, ferroptosis, and motor impairment by Athina Maniscalchi, Oriana N. Benzi Juncos, Melisa A. Conde, Melania I. Funk, María E. Fermento, María M. Facchinetti, Alejandro C. Curino, Romina M. Uranga, Natalia P. Alza, Gabriela A. Salvador

“…Brain iron accumulation constitutes a pathognomonic indicator in several neurodegenerative disorders. …”
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Multisystem inflammatory syndrome in children (MIS-C) and “Near MIS-C”: A continuum? by Sarah Khafaja, Sarah Khafaja, Nour Youssef, Nour Youssef, Zeinab El Zein, Zeinab El Zein, Celina F. Boutros, Samer Bou Karroum, Nour Abdel-Halim, Rim Salameh, Daniella Hodroj, Nour El Meski, Oussama Nasrallah, Aram Bidikian, Ghassan Bou Saba, Mariam T. Arabi, Mariam T. Arabi, Rima Hanna-Wakim, Rima Hanna-Wakim, Rima Hanna-Wakim, Ghassan S. Dbaibo, Ghassan S. Dbaibo, Ghassan S. Dbaibo

“…Of the 29 subjects, the Royal College of Paediatrics and Child Health (RCPCH) case definition would have identified all suspected cases without an alternative diagnosis as MIS-C, whereas the World Health Organization (WHO) and the CDC definitions would have excluded 6 and 10 subjects, respectively.ConclusionMIS-C presents a diagnostic challenge due to the nonspecific symptoms, lack of pathognomonic findings, and potentially fatal complications. …”
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Heterogeneous clinicopathological findings and patient-reported outcomes in adults with MN1-altered CNS tumors: A case report and systematic literature review by Stephen C. Frederico, Stephen C. Frederico, Elizabeth Vera, Zied Abdullaev, Alvina Acquaye, Kenneth Aldape, Lisa Boris, Nicole Briceno, Anna Choi, Alexa Christ, Diane Cooper, Ewa Grajkowska, Tricia Kunst, Heather E. Leeper, Jason Levine, Jason Levine, Nicole Lollo, Drew Pratt, Martha Quezado, Ritu Shah, Kathleen Wall, Mark R. Gilbert, Terri S. Armstrong, Marta Penas-Prado

“…Thought to occur most commonly in children and predominantly in females, MN1-altered CNS tumors are associated with typical but not pathognomonic histological patterns and are characterized by a distinct DNA methylation profile and recurrent fusions implicating the MN1 (meningioma 1) gene. …”
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Cinematic rendering in rheumatic diseases—Photorealistic depiction of pathologies improves disease understanding for patients by Milena L. Pachowsky, Milena L. Pachowsky, Harriet Morf, Harriet Morf, David Simon, David Simon, Verena Schönau, Verena Schönau, Larissa Valor-Mendez, Larissa Valor-Mendez, Johannes Knitza, Johannes Knitza, Filippo Fagni, Filippo Fagni, Klaus Engel, Michael Uder, Axel Hueber, Axel Hueber, Christian Schmidkonz, Christian Schmidkonz, Georg Schett, Georg Schett, Arnd Kleyer, Arnd Kleyer

“…In a prospective study, physicians used CR-enhanced and conventional original images to explain the depicted pathognomonic pathologies to patients with the respective rheumatic disease. …”
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TGFBIp-associated corneal dystrophy : exploring structure-based drug development strategies for disease prevention and treatment by Anandalakshmi, Venkatraman

“…The deposition of insoluble protein materials in the form of extracellular amyloid fibrils or intracellular cysts is pathognomonic. The gene associated with the stromal and Bowman’s related Corneal Dystrophy is TGFBI. …”
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Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis by Zhang Z, Dauvilliers Y, Plazzi G, Mayer G, Lammers GJ, Santamaria J, Partinen M, Overeem S, del Rio Villegas R, Sonka K, Peraita-Adrados R, Heinzer R, Wierzbicka A, Högl B, Manconi M, Feketeova E, da Silva AM, Bušková J, Bassetti CLA, Barateau L, Pizza F, Antelmi E, Gool JK, Fronczek R, Gaig C, Khatami R

“…Pasteur Kosice, Kosice, Slovak Republic; 22Serviço de Neurofisiologia, Hospital Santo António/Centro Hospitalar Universitário do Porto and UMIB-Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal; 23Department of Sleep Medicine, National Institute of Mental Health, Klecany, Czech Republic; 24Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; 25Department of Neurology, Sechenov First Moscow State University, Moscow, Russia; 26Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, ItalyCorrespondence: Yves Dauvilliers, National Reference Network for Narcolepsy, Sleep-Disorders Center, Department of Neurology, Hopital Gui de Chauliac, INSERM U1061, Montpellier, UM1, France, Email ydauvilliers@yahoo.fr Ramin Khatami, Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, CH-5017, Switzerland, Email ramin.khatami@barmelweid.chPurpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. …”
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Pathogenesis of acute hepatopancreatic necrosis disease caused by vibrio spp. in whiteleg shrimp Penaeus vannamei (Boone, 1931) by Muthukrishnan, Sarmila

“…strain NBP also demonstrated typical pathognomonic AHPND lesions during the histopathologic examination. …”
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The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis by Roberto Littera, Roberto Littera, Andrea Perra, Andrea Perra, Michela Miglianti, Ignazio S. Piras, Stefano Mocci, Sara Lai, Maurizio Melis, Teresa Zolfino, Cinzia Balestrieri, Maria Conti, Giancarlo Serra, Francesco Figorilli, Davide Firinu, Simona Onali, Laura Matta, Carmen Porcu, Francesco Pes, Daniela Fanni, Cristina Manieli, Monica Vacca, Roberto Cusano, Marcello Trucas, Selene Cipri, Stefania Tranquilli, Stefania Rassu, Federica Cannas, Mauro Giovanni Carta, Marta Anna Kowalik, Erika Giuressi, Gavino Faa, Luchino Chessa, Luchino Chessa, Luchino Chessa, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio

“…However, our results open the debate on the ambiguous role of HLA-G molecules expressed by plasma cells, which are pathognomonic features of AIH-1.…”
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Role of stress and ameliorative effects of resveratrol on pathophysiological changes associated with experimental Brucella melitensis infection in non-pregnant boer does by Polycarp, Tanko

“…Although pathological lesions such as microgranuloma, periportal lymphocytic infiltration and necrosis in the liver and lungs are not pathognomonic to Brucella infection, these lesions were consistently observed in this study and it was therefore proposed that they should not be excluded in the differential diagnosis, should these lesions be observed.Treatment with resveratrol following dexamethasone administration was seen to significantly ameliorate damage induced by dexamethasone administration. …”
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Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging by Lena Wucherpfennig, Lena Wucherpfennig, Lena Wucherpfennig, Felix Wuennemann, Felix Wuennemann, Felix Wuennemann, Felix Wuennemann, Monika Eichinger, Monika Eichinger, Monika Eichinger, Angelika Seitz, Ingo Baumann, Mirjam Stahl, Mirjam Stahl, Mirjam Stahl, Simon Y. Graeber, Simon Y. Graeber, Simon Y. Graeber, Shengkai Zhao, Shengkai Zhao, Jaehi Chung, Jaehi Chung, Jens-Peter Schenk, Abdulsattar Alrajab, Hans-Ulrich Kauczor, Hans-Ulrich Kauczor, Hans-Ulrich Kauczor, Marcus A. Mall, Marcus A. Mall, Marcus A. Mall, Olaf Sommerburg, Olaf Sommerburg, Mark O. Wielpütz, Mark O. Wielpütz, Mark O. Wielpütz

“…Especially mucopyoceles pathognomonic for CRS in CF may cause complications such as spread of infection. …”
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Pictorial Essay of Named CT Signs in COVID-19 Pneumonia on High Resolution Computed Tomography by Chandrashekar Patil, Raja Kollu, Prashanth Kumar KS, Smitha Yesumalini Ravula

“…However, the other signs are not pathognomonic to COVID-19, they are still commonly seen.…”
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