Article
Surgery
Linhua Ji, Danhua Xu, Chunchao Zhu, Jia Xu, Hui Cao, Gang Zhao
Summary: This study reports a case of de novo duodenal malignancy in a patient who had undergone liver transplantation. The patient was diagnosed with duodenal carcinoma and subsequently underwent pancreatoduodenectomy. A metastatic lesion occurred 14 months after the surgery, which was found to be hepatocellular carcinoma metastasis.
FRONTIERS IN SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Jong-Chan Youn, Darae Kim, In-Cheol Kim, Hye Sun Lee, Jin-Oh Choi, Eun-Seok Jeon, Keith Nishihara, Evan P. Kransdorf, David H. Chang, Michelle M. Kittleson, Jignesh K. Patel, Danny Ramzy, Fardad Esmailian, Jon A. Kobashigawa
Summary: This study evaluated the incidence, characteristics, long-term outcomes, and predictors of de novo post-transplant malignancy (PTM) in heart transplant recipients. The results showed that older age, white race, and longer administration of immunosuppressive therapies were independent risk factors for PTM, which was associated with increased mortality.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Viktor Sekowski, Kathy Jackson, Kieran Halloran, Rhea Varughese, Jayan Nagendran, Justin Weinkauf, Dale Lien, Alim Hirji
Summary: In lung transplant recipients, a history of pre-transplant malignancy is associated with a more than threefold increased risk of developing post-transplant malignancy compared to recipients without a previous cancer history, with the majority of cases being unrelated to the initial malignancy. These findings underscore the importance of frequent cancer surveillance in lung transplant recipients, especially those with a history of pre-transplant malignancy.
RESPIRATORY MEDICINE
(2022)
Article
Chemistry, Multidisciplinary
Wei Wei, Ka Key Cheung, Ran Lin, Lam Cheung Kong, Ka Lok Chan, Herman H. Y. Sung, Ian D. Williams, Rongbiao Tong, Zhenyang Lin, Guochen Jia
Summary: This paper describes a unique benzannulation strategy for the regioselective de novo synthesis of densely functionalized phenols. By utilizing a metal-mediated formal [2+2+1+1] cycloaddition reaction of two different alkynes and two molecules of CO, a series of densely functionalized phenols were obtained. This benzannulation strategy allows for efficient installation of up to five different substituents on a phenol ring, resulting in a substitution pattern distinct from those obtained from Dotz and Danheiser benzannulations.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2023)
Article
Surgery
Jeeyeon Lee, Andrew Won Jun Yang, Liam Il-Young Chung, Jisang Yu, Yunjoo Lee, Hye Sung Kim, Hyun Joon Shin, Young-Geun Choi, Ankit Bharat, Young Kwang Chae
Summary: This study investigated the incidence and types of post-transplant malignancy (PTM) after double lung transplantation (DLT) and its impact on survival. The results showed that recipients with PTM had a significantly longer overall survival, although the survival rate was worse at the 10-year landmark time. The study highlights the importance of screening and treatment for PTM.
TRANSPLANT INTERNATIONAL
(2023)
Article
Otorhinolaryngology
Christine M. Clark, Yassmeen Abdel-Aty, Hal Rives, Lucian Sulica
Summary: The occurrence of de novo granulomas on the membranous vocal fold is an atypical condition that may indicate a risk of hidden malignancy. Close long-term clinical surveillance and low threshold for biopsy should be prompted if new granulomas are found in this area.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Oncology
Jiaoping Mi, Fang Yang, Jiani Liu, Mingyang Liu, Alexander Y. Lin, Daisy Dandan Wang, Peter Ping Lin, Qi Zeng
Summary: This article presents a case of a laryngeal carcinoma patient who rapidly developed pancreatic adenocarcinoma after surgical resection, post-operative chemoradiotherapy, and targeted therapy. The patient had a substantial amount of non-hematological aneuploid circulating rare cells detected by SE-iFISH, which showed abnormal results several months after treatment. In addition to evaluating therapeutic efficacy and detecting minimal residual disease, this article suggests that the ratio of MRD CTECs to CTCs may serve as a potential index for predicting cancer recurrence.
FRONTIERS IN ONCOLOGY
(2022)
Article
Clinical Neurology
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolo E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. H. Nemeth, German Demidov, Henry Houlden, Kailash P. P. Bhatia
Summary: This study identified a novel exonic AluYa5 insertion causing NKX2-1-related disorder, which is challenging to detect in routine diagnostics. MEI analysis of short-read sequencing data or targeted long-read sequencing could reveal the molecular diagnosis of unresolved movement disorder cases.
MOVEMENT DISORDERS
(2023)
Article
Genetics & Heredity
Tomoyasu Higashimoto, Christy Haakonsen Smith, Mark R. Hopkins, John Gross, Deyin Xing, Jae W. Lee, Traevia Morris, Joann Bodurtha
Summary: This case report describes a child with nevoid basal cell carcinoma syndrome (NBCCS) who developed bilateral benign ovarian fibromas. Genetic testing revealed mutations in the PTCH1 and SMARCA4 genes.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Clinical Neurology
Mengyue Niu, Yanjing Li, Shikun Zhan, Bomin Sun, Jun Liu, Yiwen Wu
Summary: This case report describes a rare case of Tourette-like syndrome secondary to KS1 caused by a de novo microdeletion in the EHMT1 gene. The findings suggest that TS with ID and facial anomalies indicate a genetic cause and broaden the phenotypic and genotypic spectrum of both TS and KS1.
Article
Genetics & Heredity
Poonnada Jiraanont, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone
Summary: Fragile X syndrome is the most common cause of X-linked inherited intellectual disabilities and the most frequent monogenic form of autism spectrum disorders. It is caused by CGG trinucleotide repeat expansion in the FMR1 gene, leading to the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene can also cause fragile X syndrome.
FRONTIERS IN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Nadia H. Bakir, Ioana B. Florea, Jordan Phillipps, Joel D. Schilling, Marci S. Damiano, Gregory A. Ewald, Akinobu Itoh, Kunal D. Kotkar, Ralph J. Damiano Jr, Marc R. Moon, Muhammad F. Masood
Summary: This study evaluated the factors associated with de novo malignancy after orthotopic heart transplantation (OHT), and found that age, government payer insurance, family history of malignancy, and metformin use were associated with an increased risk of melanoma and basal or squamous cell carcinoma. Age and family history of malignancy were associated with an increased risk of solid organ cancer, specifically prostate and lung cancer.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)
Article
Cell Biology
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 Gruenewald, Irfan A. Asangani
Summary: Through transcriptome analysis, researchers identified a 32-gene signature that distinguishes Ewing sarcoma from other cancers. The LOXHD1 gene, which is highly expressed, is transcribed through an alternative transcription start site. Deleting or silencing the transcription factor associated with Ewing sarcoma leads to loss of the LOXHD1 short isoform, affecting tumor cell proliferation and invasion.
Article
Genetics & Heredity
Rong Yu, Lv Liu, Chan Chen, Zhao-Jing Lin, Jun-Mei Xu, Liang-Liang Fan
Summary: We report a novel mutation of RAI1 in a patient with Smith-Magenis syndrome, schizophrenia, and headache. The mutation affects a conserved site of RAI1 and leads to decreased protein levels. This finding expands the spectrum of RAI1 mutations and contributes to the understanding of the mechanisms underlying SMS, schizophrenia, and headache.
Article
Genetics & Heredity
Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, Lenka Noskova, Martin Magner, Konrad Platzer, Janina Gburek-Augustat, Dustin Baldridge, John N. Constantino, Emmanuelle Ranza, Bernhard Bettler, Stylianos E. Antonarakis
Summary: GABA(B) receptors are responsible for neuronal inhibition in the central nervous system. Variants in GABBR2 have been associated with certain phenotypes, while no phenotypes have been established for GABBR1 variants. This study identified four GABBR1 variants in individuals with motor and/or language delay, and functional characterization revealed their impact on GABA potency and efficacy, providing insights into disease severity and potential therapeutic strategies.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Agriculture, Dairy & Animal Science
Matilde Lombardero, Diana Alonso-Penarando, Maria del Mar Yllera
Summary: Cats are one of the most common companion animals, but they have several important anatomical and physiological differences compared to dogs. Understanding these differences is crucial in clinical practice to prevent unintentional medical damage.
Review
Agriculture, Dairy & Animal Science
Matilde Lombardero, Mario Lopez-Lombardero, Diana Alonso-Penarando, Maria del Mar Yllera
Summary: The small size of the cat mandible makes it challenging to fix fractures using internal fixation methods without damaging dental roots and neurovascular structures. A new mandibular prosthesis design is proposed to provide appropriate biomechanical stability while avoiding unintentional damage to these structures.
Article
Biochemical Research Methods
Mona Stefanakis, Anita Lorenz, Joerg W. Bartsch, Miriam C. Bassler, Alexandra Wagner, Marc Brecht, Axel Pagenstecher, Jens Schittenhelm, Barbara Boldrini, Sabrina Hakelberg, Susan Noell, Christopher Nimsky, Marcos Tatagiba, Rainer Ritz, Karsten Rebner, Edwin Ostertag
Summary: Characterization of brain tumors through multimodal optical spectroscopy can provide valuable chemical and morphological information for neuropathological diagnosis. Formalin fixation affects tissue stability and slightly improves classification models based on optical spectroscopy data of brain tumors. These spectroscopic methods are appropriate additional contrasts in neuropathological diagnosis and can be integrated into clinical workflows even after formalin fixation.
JOURNAL OF SPECTROSCOPY
(2021)
Article
Pathology
Stefanie Gloss, Philipp Jurmeister, Anne Thieme, Simone Schmid, Wei Y. Cai, Rene N. Serrette, Sven Perner, Julika Ribbat-Idel, Axel Pagenstecher, Hendrik Blaeker, Ursula Keber, Christine Stadelmann, Sabrina Zechel, Pascal D. Johann, Martin Hasselblatt, Werner Paulus, Christian Thomas, Hildegard Dohmen, Daniel Baumhoer, Stephan Frank, Abbas Agaimy, Ulrich Schueller, Varshini Vasudevaraja, Matija Snuderl, Cheng Z. Liu, David G. Pfister, Achim A. Jungbluth, Ronald A. Ghossein, Bin Xu, David Capper, Snjezana Dogan
Summary: IDH2 R172 mutations occur in sinonasal undifferentiated carcinoma (SNUC), large-cell neuroendocrine carcinoma (LCNEC), sinonasal adenocarcinomas, and olfactory neuroblastoma (ONB). A study was conducted to analyze the clinical, pathological, genetic, and epigenetic features of a large IDH2-mutated sinonasal tumor cohort. The IDH2-mutated sinonasal tumors showed distinct molecular characteristics and better disease-specific survival compared to IDH2 wild-type sinonasal malignancies.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Ekaterina Ivanova, Shrey Dharamvir Sharma, Anna Brichkina, Petra Pfefferle, Ursula Keber, Axel Pagenstecher, Matthias Lauth
Summary: In neuroblastoma, the overexpression of DYRK3 kinase is associated with decreased survival rate in patients. DYRK3 functions as a negative regulator of HIF-driven transcriptional responses in NB cells and negatively impacts cell differentiation, suggesting an oncogenic role in the etiology of NB.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Review
Clinical Neurology
Michael S. Xydakis, Mark W. Albers, Eric H. Holbrook, Dina M. Lyon, Robert Y. Shih, Johannes A. Frasnelli, Axel Pagenstecher, Alexandra Kupke, Lynn W. Enquist, Stanley Perlman
Summary: COVID-19 is often associated with olfactory dysfunction, providing a research opportunity to study the natural course of this neurological finding. However, limited by sample sizes and lack of advanced neuroimaging data, there is still a substantial gap in knowledge regarding the mechanisms of olfactory impairment. Persistent olfactory deficits post-SARS-CoV-2 infection could potentially be a marker for increased long-term risk of neurological disease.
Article
Cell Biology
Yesim Verel-Yilmaz, Juan Pablo Fernandez, Agnes Schaefer, Sheila Nevermann, Lena Cook, Norman Gercke, Frederik Helmprobst, Christian Jaworek, Elke Pogge von Strandmann, Axel Pagenstecher, Detlef K. Bartsch, Joerg W. Bartsch, Emily P. Slater
Summary: The study aimed to determine whether ADAM8-positive extracellular vesicles (EVs) and cargo microRNAs could distinguish PDAC or its precursor lesions from healthy controls. FACS analysis and EV cargo analysis of miRNAs revealed a potential diagnostic biomarker set to discriminate PDAC and precursor lesions from healthy controls.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Christiane D. Much, Barbara S. Sendtner, Konrad Schwefel, Eric Freund, Sander Bekeschus, Oliver Otto, Axel Pagenstecher, Ute Felbor, Matthias Rath, Stefanie Spiegler
Summary: "The study explores the use of CRISPR/Cas9 technology to model cerebral cavernous malformations, showing that CCM1 inactivation induces high-level expression of VWF and redistribution of Weibel-Palade bodies within endothelial cells. This research provides insights into the cellular and molecular mechanisms underlying the dysfunction in cavernous malformations."
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Kai Zhao, Agnes Schaefer, Zhuo Zhang, Katharina Elsaesser, Carsten Culmsee, Li Zhong, Axel Pagenstecher, Christopher Nimsky, Joerg W. Bartsch
Summary: Carbonic anhydrase CA2 is highly expressed in recurrent glioblastoma and temozolomide-resistant glioblastoma stem-like cells (GSCs), promoting cell invasion. The CA2 inhibitor brinzolamide is more effective than the pan-CA inhibitor acetazolamide in sensitizing GSCs to TMZ-induced cell death. The combined treatment of TMZ and brinzolamide induces autophagy in GBM cell lines and GSCs, suggesting a potential treatment strategy for tackling GBM chemoresistance and recurrence.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Anna Hupfer, Anna Brichkina, Anke Koeniger, Corinna Keber, Carsten Denkert, Petra Pfefferle, Frederik Helmprobst, Axel Pagenstecher, Alexander Visekruna, Matthias Lauth
Summary: Increased tissue stiffness can enhance disease progression and support cancer cell growth through promoting stiffness-induced autophagy in stromal cells, mediated by Integrin alpha V signaling pathway. This reveals a potential target for disrupting tumor-stroma crosstalk and manipulating the tumor microenvironment.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Food Science & Technology
Ana Maria Ramos-Cabrer, Nerea Fernandez-Canto, Fernando Almeida-Garcia, Ana Gorostidi, Matilde Lombardero-Fernandez, Maria Angeles Romero-Rodriguez, Santiago Pereira-Lorenzo
Summary: This study investigated the use of SSRs and ddPCR to assess the presence of local cultivars in common wheat varietal blends as an alternative to individual kernel testing. The results showed that ddPCR using SSRs can be an effective method for tracing specific local cultivars in mixed flours.
INTERNATIONAL JOURNAL OF FOOD SCIENCE AND TECHNOLOGY
(2022)
Article
Food Science & Technology
Maria Nerea Fernandez-Canto, Maria Belen Garcia-Gomez, Sonia Boado-Crego, Maria Lourdes Vazquez-Oderiz, Maria Nieves Munoz-Ferreiro, Matilde Lombardero-Fernandez, Santiago Pereira-Lorenzo, Maria Angeles Romero-Rodriguez
Summary: This study evaluated the element content of different wheat flours used in Pan Galego bread baking industry, with wholegrain flour ranking the highest in almost all elements. The local cultivar ''Caaveiro'' showed an interesting nutritional profile with unique element content compared to other varieties.
Article
Food Science & Technology
Nerea Fernandez-Canto, Maria Angeles Romero-Rodriguez, Ana Maria Ramos-Cabrer, Santiago Pereira-Lorenzo, Matilde Lombardero-Fernandez
Summary: Microscopy techniques are used to ensure the presence and percentage of 'Caaveiro' wheat in blended flours.
Editorial Material
Agriculture, Dairy & Animal Science
Matilde Lombardero, Maria del Mar Yllera
Article
Agriculture, Dairy & Animal Science
Maria del Mar Yllera, Diana Alonso-Penarando, Matilde Lombardero
Summary: Sugar gliders, as small marsupials, present challenges for clinical veterinarians as they lack accessible references regarding their internal anatomy. In this study, the female genital apparatus of sugar gliders was examined, revealing the presence of duplicate reproductive organs and a unique vaginal complex. The dissected carcasses of eight mature females were used to explore the macroscopic anatomy of the female reproductive system in this species. This knowledge is essential for accurate diagnosis and treatment of pathologies in sugar gliders.
