Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

“…This highlights the utility of episignatures in variant interpretation, as well as a potential novel diagnostic approach in unsolved cases or for disease prognosis.…”
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The possibilities of lung perfusion scintigraphy in the diagnosis of pulmonary embolism and chronic thromboembolic pulmonary hypertension by V.Yu. Kundin, M.V. Satyr, I.V. Noverko, A.V. Khokhlov

“…The place of lung perfusion scintigraphy in the contemporary diagnostic protocols has been determined. The important advantages of this method are high sensitivity, high negative predictive value, non-invasiveness, safety and low radiation exposure. …”
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Massive ureterocele leading to urinary retention in a male neonate: A rare presentation and successful management by Rafael Nascimento Vilares, Manuela Horta, Afonso da Silva Alves Bento, Francisco Tibor Dénes, Roberto Iglesias Lopes

“…Ureterocele is a rare congenital anomaly characterized by the dilation of the distal ureter and its protrusion into the bladder, often related with duplex collecting renal system, leading to urinary obstruction.While it commonly occurs in females, this case report presents the rare presentation of a massive ureterocele in a 2-day-old male neonate, causing urinary retention. A diagnostic workup revealed bilateral hydronephrosis and a massive ureterocele. …”
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Radiology in gastroenterology by Z. A. Lemeshko

“…Conclusion. Improvement of diagnostic radiology methods and expansion of the range of issues that can be resolved by the means of modern radiology is noted.…”
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Postpartum Ovarian Vein Thrombophlebitis with Staphylococcal Bacteremia by Eduardo Parino, Eric Mulinaris, Edgardo Saccomano, Juan Cruz Gallo, Gabriel Kohan

“…Although a very uncommon complication after spontaneous vaginal delivery, septic ovarian vein thrombophlebitis should be suspected in cases of persistent puerperal fever when other diagnostic possibilities have been excluded.…”
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Headache associated with sexual activity by M. Jokubaitis, K. Ryliškienė

“…This article reviews the epidemiology, pain characteristics, diagnostic criteria, differential diagnosis, and treatment of HAS. …”
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An Unexpected Presentation of Haemoperitoneum in a Pregnant Woman by Kaushalya Arulpragasam, Andrea Atkinson, Mathias Epee-Bekima

“…This case highlights that although the decision and initial management may be apparent, often the diagnosis can be unexpected and that the diagnostic challenge is often outside the scope of a brief Emergency Room assessment. …”
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Pitfalls in the Diagnosis of Anaplastic Large Cell Lymphoma with a Small Cell Pattern by Rowan L. Grigoropoulos, Penny Wright, Mars B. van t'Veer, Mike A. Scott, George A. Follows

“…In this report, we describe our diagnostic work-up for one such case using blood, lymph node, and bone marrow aspirate samples, highlighting the variability of antigen expression seen in different sample types and methodologies. …”
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Colouterine and Jejunouterine Fistula Secondary to Chronic Diverticulitis by Ilias Galanis, Georgios Floros, Christophoros Theodoropoulos, Myriam Metaxa, Panagiotis Theodoropoulos, Panagiotis Tsintavis, Dimitrios Bartziotas, Georgios Giannos, Georgios Stylianidis, Georgios Papadopoulos

“…This case represents an unusual type of diverticulitis complication and aims to point out the diagnostic and therapeutic issues of such a rare medical condition.…”
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ALTE and Feeding Intolerance as a Presentation of Double Aortic Arch by Rekha Krishnasarma, Liza Green Golan Mackintosh, Francine Bynum

“…Many children who are admitted to pediatric hospitals with the chief complaint of apparent life-threatening event (ALTE) are, in fact, well appearing by the time the inpatient medical team evaluates the patient. This presents a diagnostic and therapeutic challenge. We describe a case of a six-month-old full-term female presenting with an ALTE and found to have a double aortic arch, a congenital anomaly that usually presents with a more progressive onset of symptoms such as chronic cough, positional stridor, and feeding difficulties. …”
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Advances in thyroid peroxidase (TPO) and thyroid stimulating hormone receptor (TSHR) biomarkers for autoimmune thyroid diseases by Aulanniam, Achmad Rudijanto, Andreas Budi Wijaya

“…Additionally, it discusses the development of lateral flow assay (LFA) kits developed by the authors, which show promise as rapid and reliable diagnostic tools for AITD. …”
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Magnetic resonance imaging after laparotomy of fetal evacuation in advanced abdominal pregnancy by Erien Pradyta, Tri Wulanhandarini, Manggala Pascawardhana

“…Although the ultrasound was used as the diagnostic tool for the AP, the MRI had an excellent ability to show detailed anatomy as a reliable imaging modality for patients with complicated obstetric history.…”
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Undiagnosed HIV Presenting with Lymphoid Interstitial Pneumonitis by Jason J. Rizqallah, Christopher T. Shah, Oladoyin Oluwole, John N. Sheagren

“…Additionally, further invasive diagnostic testing may be required to guide therapy in patients with advanced acquired immune deficiency syndrome. …”
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Persistent Peril: Confronting Recurrent Chest Abscess from Nontuberculous Mycobacteria by P Prem Ananth, R Anand, S Raghul Raj, N Nagarajan, M Thoupikka

“…Recurrent chest wall abscesses, particularly those caused by nontuberculous mycobacteria (NTM) such as Mycobacterium fortuitum, are uncommon and pose significant diagnostic and therapeutic challenges. Our case report details a 42-year-old male with recurrent chest wall abscess, where the underlying etiology was traced to a near-drowning incident at the age of 18. …”
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New Imaging in Gastrointestinal Tract by Roberto Grassi, Antonio Pinto, Lorenzo Mannelli, Daniele Marin, Maria Antonietta Mazzei

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Regulation of Stemness in Carcinoma Cells by Jijun Hao, Juli Unternaehrer, Xiaojiang Cui, Ninghui Cheng, Yusuke Oji

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Editorial: The role of gut microbiota in animal gastrointestinal diseases by Aoyun Li, Faisal Ayub Kiani, Jianzhao Liao, Fang Liu, Yung-Fu Chang

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Intracranial pressure monitoring in patients with spontaneous onset of orthostatic headache by Linda D’Antona, Sanjay Cheema, Dwij Mehta, Fion Bremner, Laurence Dale Watkins, Ahmed Kassem Toma, Manjit Singh Matharu

“…Consecutive patients with spontaneous orthostatic headaches and inconclusive diagnostic work-up who underwent 24-hour ICP monitoring were considered eligible. …”
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Evaluation of Noninvasive Tools for Predicting Esophageal Varices in Patients With Cirrhosis at Tygerberg Hospital, Cape Town by Lawrence Kwape, Shiraaz Gabriel, Ahmad Abdelsalem, Penelope Rose, Lefika Bathobakae, Dale Peterson, Desiree Moodley, Mohammed Parker, Saadiq Moolla, Arifa Parker, Keatlaretse Siamisang, Christoffel Van Rensburg, Ernst Fredericks

“…Conclusion: SSM and SSPS have the highest diagnostic accuracy for predicting the presence of EVs in patients with compensated cirrhosis. …”
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Pleomorphic Adenomas of the Parapharyngeal Space by İstemihan Akın, Tuğba Karagöz, Murad Mutlu, Mehmet Şahan, Evrim Önder

“…Extensive preoperative diagnostic workup was done in order to verify the nature and size of the tumour and the proximity to the large vessels. …”
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