Article
Microbiology
Hongyan Guo, Heather S. Koehler, Edward S. Mocarski, Richard D. Dix
Summary: Invasion of the brain by herpes simplex virus 1 (HSV1) can lead to the development of herpes simplex encephalitis (HSE) that is often associated with significant morbidity and mortality regardless of therapeutic intervention. Both virus and host immune factors dictate HSE onset and progression. RIPK3, a protein involved in programmed cell death, has been identified as a key player in limiting HSV1 replication in the cornea and protecting against HSE. This study also revealed that caspase 8, another protein involved in cell death, contributes to limiting HSE neuropathogenesis by promoting inflammation in the brain.
Article
Radiology, Nuclear Medicine & Medical Imaging
Edward Y. Lee, Sara O. Vargas, Jonathan M. Gaffin, Janet Chou, Halley J. Park, Abbey J. Winant
Summary: Children with DOCK8 deficiency display characteristic thoracic MDCT findings, including bilateral bronchiectasis, ground-glass opacity, and mediastinal lymphadenopathy. These findings should raise suspicion of DOCK8 deficiency as a possible underlying diagnosis in pediatric population.
JOURNAL OF THORACIC IMAGING
(2021)
Article
Medicine, General & Internal
Zhaojun Wang, Yanan Zhang, Gang Li, Lingyan Huang, Juan Chen
Summary: This article describes the characteristics, diagnosis, and treatment of Hyperimmunoglobulin E syndrome (HIES), and emphasizes the importance of early diagnosis and intervention in improving prognosis through a case report of a 19-year-old woman.
Article
Medicine, General & Internal
Amer Alshengeti
Summary: DOCK 8 deficiency is an immunodeficiency disease that requires early diagnosis for successful stem cell transplantation. This study reports a pediatric patient whose negative genetic testing results were revised after further evaluation, leading to a confirmed diagnosis through targeted gene testing.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Medicine, General & Internal
Euri Seo, Beom Hee Lee, Joo Hoon Lee, Young Seo Park, Ho Joon Im, Jina Lee
Summary: DOCK8 deficiency can manifest as autoimmune diseases such as SLE. This case report highlights the importance of considering immunodeficiency syndromes, including DOCK8 deficiency, in pediatric patients diagnosed with SLE at a young age. The patient in this case showed significant improvement after receiving HSCT, with normalization of laboratory findings and no recurrence of autoimmune features or infections after 12 months follow-up.
Article
Ophthalmology
Jimena Tatiana Carreno-Galeano, Thomas H. Dohlman, Jia Yin, Reza Dana
Summary: The study found that the incidence of LSCD in patients with herpes zoster keratitis and herpes simplex keratitis was 13% and 7% respectively. Factors such as keratitis caused by herpes zoster virus, stromal involvement, and the use of topical antihypertensives were associated with a higher likelihood of developing LSCD. Patients with LSCD had significantly lower BCVA compared to those without LSCD.
Article
Virology
Nicole Broekema, Max E. Mertens, Magdalena Angelova, Megan H. Orzalli, Hyung S. Oh, David M. Knipe
Summary: DNA virus infection triggers an antiviral response in cells, but viruses have evolved mechanisms to inhibit this response. In this study, the ICP8 protein of HSV-1 was found to inhibit the cGAS pathway, which is important for initiating the antiviral response. These findings highlight the significance of countering the antiviral response for efficient viral replication.
Article
Endocrinology & Metabolism
Sara Momtazmanesh, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Rasol Molatefi, Iraj Mohammadzadeh, Javad Ghaffari, Hamidreza Mahmoudi, Jasmin Dmytrus, Anna Segarra-Roca, Ido Somekh, Maximilian Witzel, Fabian Hauck, Kaan Boztug, Christoph Klein, Nima Rezaei
Summary: In this study, we reported novel variants within the DOCK8 gene and highlighted the risk of aneurysms in these patients, which have been rarely reported previously.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2022)
Article
Pediatrics
Ayse Mete Yesil, Basak Kayaoglu, Ersin Gul, Nazli Gonc, Alev Ozon, Ilhan Tezcan, Mayda Gursel, Deniz cagdas
Summary: This report describes a patient who presented with severe hypereosinophilia and later developed syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed underlying DOCK8 deficiency with atypical clinical features. Conclusions: Distinct inflammatory features associated with infections can be seen in primary immunodeficiency diseases, and early functional and molecular genetic tests will aid in proper management.
TURKISH JOURNAL OF PEDIATRICS
(2023)
Article
Oncology
Solmaz Ohadian Moghadam, Kamyar Mansori, Mohammad Reza Nowroozi, Davoud Afshar, Ali Nowroozi
Summary: While the seroprevalence of HSV-2 and HHV-8 was higher in patients with prostate cancer compared to the control group, it was not concluded that there is a significant association between seropositivity of these viruses and prostate cancer incidence. However, the study revealed significant statistical associations between age and seropositivity of HSV-2, as well as between PSA levels and seropositivity of HHV-8.
INTERNATIONAL JOURNAL OF CANCER MANAGEMENT
(2021)
Article
Infectious Diseases
Katharina Last, Philipp M. Lepper, Philipp Jung, Hans-Joachim Schaefers, Sebastien Boutin, Klaus Heeg, Soren L. Becker, Dennis Nurjadi, Cihan Papan
Summary: Clinical and laboratory data on newly described staphylococcal species is rare. Our findings highlight the diagnostic pitfalls pertinent to novel and non-model organisms, in whom the correct identification is dependent on database accuracy.
EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES
(2022)
Article
Oncology
Leon P. Loevenich, Markus Tschurtschenthaler, Matjaz Rokavec, Miguel G. Silva, Moritz Jesinghaus, Thomas Kirchner, Frederick Klauschen, Dieter Saur, Jens Neumann, Heiko Hermeking, Peter Jung
Summary: NLE1 plays a critical role in the growth and progression of colorectal cancer, suggesting it as a potential therapeutic target for colorectal cancer patients.
Editorial Material
Gastroenterology & Hepatology
Sarah Klauss, Mark Op den Winkel, Jorg Schirra, Markus Rentsch, Julia Mayerle, Jens H. L. Neumann, Enrico N. De Toni
Article
Virology
Cihan Papan, Alberto Argentiero, Ortwin Adams, Marian Porwoll, Ummaya Hakim, Edoardo Farinelli, Ilaria Testa, Maria B. Pasticci, Daniele Mezzetti, Katia Perruccio, Arne Simon, Johannes G. Liese, Markus Knuf, Michal Stein, Renata Yacobov, Ellen Bamberger, Sven Schneider, Susanna Esposito, Tobias Tenenbaum
Summary: This study found that viral load is associated with biomarkers and may serve as a complementary tool for assessing disease severity.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Allergy
Laura Maintz, Thomas Welchowski, Nadine Herrmann, Juliette Brauer, Claudia Traidl-Hoffmann, Regina Havenith, Svenja Mueller, Claudio Rhyner, Anita Dreher, Matthias Schmid, Thomas Bieber
Summary: This study found that many patients with mild-to-moderate atopic dermatitis have elevated levels of biomarkers, suggesting a systemic impact of skin inflammation. Identifying different patient subtypes can better predict their response to specific treatments.
Article
Pathology
Stefanie Jaitner, Elise Pretzsch, Jens Neumann, Achim Schaeffauer, Matthias Schiemann, Martin Angele, Joerg Kumbrink, Sarah Schwitalla, Florian R. Greten, Lydia Brandl, Frederick Klauschen, David Horst, Thomas Kirchner, Andreas Jung
Summary: Tumor stem cells are important in colorectal cancer (CRC) as they contribute to the development of tumors and their spread. Olfactomedin 4 (OLFM4) has been suggested as a biomarker for cancer stemness and prognosis in gastrointestinal tumors. However, this study found that OLFM4 expression in human CRC is characteristic of differentiation marker expression but does not drive carcinogenesis or metastatic spread. These findings suggest that OLFM4 may not be a suitable target for therapeutic intervention in CRC.
JOURNAL OF PATHOLOGY CLINICAL RESEARCH
(2023)
Article
Oncology
Klara Dorman, Danmei Zhang, Wolfgang G. Kunz, Martin Angele, Jens Neumann, Alexander Burges, Michael Von Bergwelt-Baildon, Volker Heinemann, Stefan Boeck, Clemens Giessen-Jung
Summary: This article reports a rare case of a 55-year-old woman with previously undiagnosed endometriosis presenting with mediastinal cancer of unknown primary (CUP) and synchronous rectal adenocarcinoma. It emphasizes the importance of diagnosing and treating multiple malignancies at large interdisciplinary centers.
ANTICANCER RESEARCH
(2023)
Article
Gastroenterology & Hepatology
Aline Azabdaftari, Henrike L. L. Sczakiel, Magdalena Danyel, Benno Kohlmaier, Christoph J. J. Mache, Amelie Stalke, Eva-Doreen Pfister, Julia Thumfart, Stephan Henning, A. S. Knisely, Philip Bufler
Summary: Neonatal sclerosing cholangitis (NSC) is a liver disease associated with biliary fibrosis that often requires liver transplantation in childhood. Recent studies have discovered variants in the DCDC2 gene, which is involved in syndromic disease and NSC. This report presents four patients with hepatobiliary disease associated with novel variants in the DCDC2 gene, expanding the phenotypic spectrum of this disease. Testing for DCDC2 expression and variants should be considered in the evaluation of unknown cholangiopathy in childhood.
LIVER INTERNATIONAL
(2023)
Article
Gastroenterology & Hepatology
Riccardo Vasapolli, Florent Ailloud, Sebastian Suerbaum, Jens Neumann, Nadine Koch, Lukas Macke, Joerg Schirra, Julia Mayerle, Peter Malfertheiner, Christian Schulz
Summary: The Endofaster technology can accurately detect H. pylori during gastroscopy, which can guide the selection of appropriate eradication regimen and improve diagnostic performance.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Health Care Sciences & Services
Cihan Papan, Katharina Reifenrath, Katharina Last, Andishe Attarbaschi, Norbert Graf, Andreas H. Groll, Johannes Huebner, Hans-Juergen Laws, Thomas Lehrnbecher, Johannes G. Liese, Luise Martin, Tobias Tenenbaum, Simon Vieth, Ulrich von Both, Gudrun Wagenpfeil, Stefan Weichert, Markus Hufnagel, Arne Simon
Summary: In this study, we assessed the usage of antimicrobials in pediatric hematology and oncology centers in Germany and Austria. We found a high prevalence of inappropriate antimicrobial use, with incorrect dosing and (de-)escalation/spectrum-related errors being the most common reasons. Furthermore, we identified febrile neutropenia diagnosis and antimicrobial stewardship programs as factors associated with a lower likelihood of inappropriate therapy.
LANCET REGIONAL HEALTH-EUROPE
(2023)
Article
Pediatrics
Norman Junge, Hanna Hentschel, Dorothee Krebs-Schmitt, Amelie Stalke, Eva-Doreen Pfister, Bjoern Hartleben, Martin Classen, Alexander Querfurt, Veronika Muench, Philip Bufler, Jun Oh, Enke Grabhorn
Summary: A study found that patients with mild Crigler-Najjar Syndrome (CNS) carrying the c.115C>G variant have a higher risk of progressive liver disease, despite having a very mild CNS phenotype. Currently, there are no identifiable predictors or causes for disease progression, but close follow-up can help identify patients with progressive liver disease at an early stage.
Article
Pathology
Christine Woischke, Marlies Michl, Jens Neumann
Summary: In recent years, personalized treatment for colorectal carcinoma has become more common. Alongside established diagnostics for RAS and BRAF mutational status, new therapeutic options based on MSI and HER2 status, as well as primary tumor localization, have emerged. To ensure optimized therapy according to treatment guidelines, evidence-based decision-making algorithms are needed for the timing and extent of molecular pathological diagnostics. Additionally, new targeted therapies, some of which are pending approval, will play an increasing role, necessitating the identification of new molecular pathological biomarkers by pathology.
Article
Immunology
Laura Kroehn, Aline Azabdaftari, Julian Heuberger, Christian Hudert, Matthias Zilbauer, Tilman Breiderhoff, Philip Bufler
Summary: IL-37 plays its anti-inflammatory role in the intestines mainly by protecting the intestinal epithelial integrity through lamina propria immune cells.
FRONTIERS IN IMMUNOLOGY
(2023)
Letter
Immunology
Katharina Last, Fabian K. Berger, Soeren L. Becker, Cihan Papan, Benedikt J. Braun, Philipp Moersdorf, Tim Pohlemann, Katrin Altmeyer, Arne Simon
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Proceedings Paper
Mechanics
Viola Wartemann, Giannino Ponchio Camillo, Jens Neumann, Alexander Weber, Alexander Wagner
Summary: The influence of transpiration cooling on second modes is analyzed in this study, and compared with experimental data using different stability approaches.
IUTAM LAMINAR-TURBULENT TRANSITION
(2022)
