Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes by Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico

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Immune-mediated thrombotic thrombocytopenic purpura with systemic lupus erythematosus: clinical features and outcome by David Ribes, Nihal Martis, Jehane Fadlallah, Ygal Benhamou, Veronique Le Guern, Virginie Rieu, Gabriel Choukroun, Raïda Bouzid, Agnès Veyradier, Paul Coppo, Bérangère S Joly, Júlia Weisinger, François Provôt, Pascale Poullin, Yahsou Delmas, Sylvain Chantepie, Manon Marie, Ranta Dana

“…No patient from the idiopathic iTTP group developed clinical SLE during follow-up.Conclusion Patients with iTTP are prone to develop autoimmune features, and patients with SLE-iTTP have distinct clinical features and outcome. …”
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Clinical and histopathological features of lupus nephritis and the risk of long-term kidney outcomes in Indonesia by Ni Made Hustrini, Ni Made Hustrini, Endang Susalit, Monik Ediana Miranda, Meilania Saraswati, Y. K. Onno Teng, Merel van Diepen, Joris I. Rotmans

“…ObjectiveRace and region-specific variables influence lupus nephritis clinical features and prognosis. We examined the clinicopathological presentation and long-term kidney outcomes of lupus nephritis in Indonesia.MethodsThis was a retrospective cohort study conducted from 1 January 2011 to 31 December 2021 on biopsy-proven lupus nephritis patients, corresponding to the International Society of Nephrology/Renal Pathology Society 2018 classification. …”
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MRI-based deep learning with clinical and imaging features to differentiate medulloblastoma and ependymoma in children by Yasen Yimit, Yasen Yimit, Parhat Yasin, Yue Hao, Abudouresuli Tuersun, Abudouresuli Tuersun, Chencui Huang, Xiaoguang Zou, Xiaoguang Zou, Ya Qiu, Ya Qiu, Yunling Wang, Mayidili Nijiati, Mayidili Nijiati

“…BackgroundMedulloblastoma (MB) and ependymoma (EM) in children share similarities in terms of age group, tumor location, and clinical presentation, which makes it challenging to clinically diagnose and distinguish them.PurposeThe present study aims to explore the effectiveness of T2-weighted magnetic resonance imaging (MRI)-based deep learning (DL) combined with clinical imaging features for differentiating MB from EM.MethodsAxial T2-weighted MRI sequences obtained from 201 patients across three study centers were used for model training and testing. …”
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Designing of the multimedia presentations on the example of the section: «Mechanical oscillations and waves» and their use in high school and school courses of physics by L.F. Ilyina, A.A. Kharissova

“…Kinematic and dynamic analyzes of the oscillatory process are presented. The features of the content of this topic are analyzed in the university course of physics. …”
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Discourse of Faḍâ’il al-Qur’an: Muhammad Shadiq's Presentation of the Quran's Privileges in the Book of Qalb al-Qur’an by Deddy Ilyas, Eko Zulfikar

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Duct Excision is Still Necessary to Rule out Breast Cancer in Patients Presenting with Spontaneous Bloodstained Nipple Discharge by R. E. Foulkes, G. Heard, T. Boyce, R. Skyrme, P. A. Holland, C. A. Gateley

“…We analyse our experience of duct excisions for spontaneous nipple discharge to try to identify features that raise suspicion of breast cancer and to identify features indicative of benign disease that would be suitable for nonoperative management. …”
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A Case Report on Life-Threatening Lower Gastrointestinal Bleeding: A Rare Presentation of Mucinous Adenocarcinoma of the Appendix by H. W. T. D. Wijayaratne, K. J. A. Fernando, T. Matheeshan

“…At the six-month follow-up visit, the patient had no features of recurrence clinically. Conclusion. Mucinous adenocarcinoma of the appendix can rarely present as life-threatening lower GI bleeding. …”
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Molecular characterization of early-stage lung adenocarcinoma presenting as subsolid nodules in a real-life European cohort by Riccardo Tajè, Filippo Tommaso Gallina, Mauro Caterino, Daniele Forcella, Alexandro Patirelis, Gabriele Alessandrini, Simonetta Buglioni, Fabiana Letizia Cecere, Francesca Fusco, Federico Cappelli, Enrico Melis, Paolo Visca, Federico Cappuzzo, Vincenzo Ambrogi, Antonello Vidiri

“…Conclusion Our study presents the molecular profile of subsolid lung adenocarcinoma in a real-life European-cohort. …”
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Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report by Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi

“…He presented with marked Achilles tendon xanthomas and refractory hyper-low-density-lipoprotein cholesterolemia. …”
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The Paradox of Ameloblastoma with Granular Cell Changes: A Radiologically Massive Tumor with Subtle Clinical Presentation and Histopathological Diversity by Rezhat Abbas, Suheel Hamid Latoo, Mohammad Shafi Dar

“…Granular cell ameloblastoma (GCA), a rare histological variant of solid/multicystic ameloblastoma, is characterized by granular cell changes in stellate reticulum-like cells within the inner region of epithelial follicles. Here, we present a distinctive case report of GCA with a subtle clinical presentation and diverse histopathological features.…”
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Presentation and Discussion of the UAM/Exercise I-1b: “Pin-Cell Burn-Up Benchmark” with the Hybrid Method by O. Cabellos

“…The aim of this work is to present the Exercise I-1b “pin-cell burn-up benchmark” proposed in the framework of OECD LWR UAM. …”
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Anti-GQ1b-negative Miller Fisher syndrome presented with one-sided horizontal gaze palsy by Gülçin Akinci, Ibrahim Oztura, Semra Hiz-Kurul

“…The syndrome may present rarely with atypical clinical features. Whether the central or peripheral nervous system is primarily involved remains controversial. …”
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ALK-negative anaplastic large-cell lymphoma diagnosed on liver biopsy in a child presenting with nonresolving pyrexia by Aanchal Kakkar, Bhavna Sharma, Prasenjit Das, Siddharth Jain, Siddharth Dattagupta, Rita Sood

“…Liver biopsy performed subsequently showed features of ALK-negative ALCL. Extranodal involvement in ALK-negative ALCL can have unusual clinical presentations. …”
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Renal involvement in systemic lupus erythematosus: the present views of its pathogenesis and clinical manifestationsand the approaches to its treatment by T N Krasnova, T N Krasnova

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McKittrick-Wheelock Syndrome Presenting with Acute Kidney Injury and Metabolic Alkalosis: Case Report and Narrative Review by Mireille Caron, Charles-Etienne Dubrûle, François Letarte, Valéry Lemelin, Alexandre Lafleur

“…We report the case of a 68-year-old woman who presented with this condition but showed unusual features such as severe hypokalemia and metabolic alkalosis, without diarrhea. …”
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High-risk electrocardiogram presentations in the acute coronary syndrome patient – Beyond ST-segment elevation myocardial infarction by William J Brady, Andrew E. Muck, James H Moak

“…The features of each presentation, highlighting the electrocardiographic abnormalities, are presented and discussed.…”
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A presentation of posterior reversible encephalopathy syndrome after heart transplantation: a case report and review of literature by Daniel Grandmougin, Tristan Ehrlich, Yihua Liu, Juliette Piccoli, Pan Dan, Elodie Phamisith, Francesco Ferraro, Cristina Sirbu, Irina Klemina, Emmanuelle Schmitt, Ismaël Yahia, Michael Massin, Benjamin Lefèvre, Carine Thivilier, Fabrice Vanhuyse, Stéphane Zuily, Juan-Pablo Maureira

“…Case presentation We report the case of a 59-year-old white male patient who was diagnosed with posterior reversible encephalopathy syndrome 3 months after cardiac transplantation. …”
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Is Latent Syphilis New Normal among Clinical Presentations of Syphilis? Study from a Tertiary Care Institute by Jignaben Krunal Padhiyar, Nayankumar Harshadkumar Patel, Jeta Buch, Bhagirath Patel, Aseem Chhibber

“… Introduction: Clinical presentation of syphilis varies widely according to stage of syphilis. …”
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A Case Report of Extensive Cerebral Venous Sinus Thrombosis as a Presenting Sign of Relapsing Nephrotic Syndrome by Janet K. Lee, Kathleen Murray, Swetha Renati

“…Nephrotic syndrome is defined by three characteristic features including proteinuria of >3 g in 24 hours, hypoalbuminemia of less than 3 g/dL, and peripheral edema. …”
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