Article
Neurosciences
Anja Kovanda, Valentino Racki, Gaber Bergant, Dejan Georgiev, Dusan Flisar, Elisa Papic, Marija Brankovic, Milena Jankovic, Marina Svetel, Natasa Teran, Ales Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtosek, Martin Rakusa, Vladimira Vuletic, Borut Peterlin
Summary: This study assessed the yield and rationale of genetic testing for Parkinson's disease in early-onset and familial patients. The results showed that both early-onset and familial patients should consider genetic testing for Parkinson's disease, with an expected clinical yield of about 10% in the Caucasian population.
NPJ PARKINSONS DISEASE
(2022)
Article
Biochemistry & Molecular Biology
Pawel M. Potocki, Piotr Wojcik, Lukasz Chmura, Bartlomiej Goc, Marcin Fedewicz, Zofia Bielanska, Jakub Swadzba, Kamil Konopka, Lukasz Kwinta, Piotr J. Wysocki
Summary: BRAF V600E and KRAS mutations in colorectal cancer are associated with poor prognosis. Targeted therapies for BRAF V600E and KRAS G12C are being developed. A retrospective database was created to analyze the clinical characteristics of patients with metastatic CRC and these mutations. BRAF V600E was more prevalent in tumors with neuroendocrine features, while KRAS G12C was associated with left-sided primary tumors and brain metastases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Wade Iams, Meridith L. Balbach, Sharon Phillips, Adrian Sacher, Christine Bestvina, Vamsidhar Velcheti, Xiao Wang, Melina E. Marmarelis, Nan Sethakorn, Ticiana Leal, Paul E. Sackstein, Chul Kim, Andrew Robinson, Kathan Mehta, Robert Hsu, Jorge Nieva, Tejas Patil, Ross Camidge
Summary: In this study, a retrospective analysis of 396 patients with KRAS G12C mutant NSCLC was conducted, revealing a median progression-free survival of 4.6 months among patients treated with docetaxel in the second-line setting, consistent with the recently reported CodeBreak 200 dataset.
CLINICAL LUNG CANCER
(2023)
Article
Oncology
Markus Y. Wu, Eric W. Zhang, Matthew R. Strickland, Dexter P. Mendoza, Lev Lipkin, Jochen K. Lennerz, Justin F. Gainor, Rebecca S. Heist, Subba R. Digumarthy
Summary: KRAS G12C mutations in lung cancer are important oncogenic mutations that exhibit distinct primary tumor imaging features and patterns of metastasis compared to lung cancers driven by other genetic alterations. These unique imaging features may provide clues to the presence of KRAS G12C NSCLC and potentially guide management strategies in the future.
Article
Dermatology
A. Dizdarevic, W. Troensegaard, A. Uldahl, O. Bergendorff, I. Siemund, A. Svensson, A. Sonesson
Summary: In patients with contact dermatitis, an intervention program providing extensive information on specific contact allergies did not significantly improve participants' ability to remember their contact allergy. Efforts to inform and educate should focus on individuals with multiple positive patch test reactions, specific allergens, those over 60 years old, and males for better knowledge and lifestyle changes.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Article
Medicine, General & Internal
Alberto Lo Gullo, Andrea Becciolini, Simone Parisi, Patrizia Del Medico, Antonella Farina, Elisa Visalli, Ylenia Dal Bosco, Aldo Biagio Molica Colella, Federica Lumetti, Rosalba Caccavale, Palma Scolieri, Romina Andracco, Francesco Girelli, Elena Bravi, Matteo Colina, Alessandro Volpe, Aurora Ianniello, Maria Chiara Ditto, Valeria Nucera, Veronica Franchina, Ilaria Plate, Eleonora Di Donato, Giorgio Amato, Carlo Salvarani, Simone Bernardi, Gianluca Lucchini, Francesco De Lucia, Francesco Molica Colella, Daniele Santilli, Natalia Mansueto, Giulio Ferrero, Antonio Marchetta, Eugenio Arrigoni, Rosario Foti, Gilda Sandri, Vincenzo Bruzzese, Marino Paroli, Enrico Fusaro, Alarico Ariani
Summary: The aim of this study is to evaluate the improvement in enthesitis and dactylitis activity in Psoriatic Arthritis (PsA) patients treated with apremilast. Results showed that PsA patients treated with apremilast experienced significant improvement in enthesitis and dactylitis activity, with over one-third of patients achieving remission after 1 year.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Yibin Wu, Jiamin Zhou, Huipeng Wang, Guojiu Fang, Weiping Zhu, Sanjun Cai, Lu Wang
Summary: This study aimed to investigate whether left-sided tumors are clinically and genomically distinct from right-sided tumors in colorectal liver metastasis (CRLM). The study found that compared to right-sided CRLM, left-sided patients had better 5-year overall survival in surgery responsiveness, and the prognosis was associated with KRAS wild-type patients.
HEPATOBILIARY SURGERY AND NUTRITION
(2023)
Article
Medicine, General & Internal
Edvina Elena Pirvu, Emilia Severin, Raluca Ileana Patru, Irina Nita, Stefania Andreea Toma, Roxana Rodica Macarie, Cristina Elena Cocioaba, Ioana Florescu, Simona Coniac, Takuji Tanaka, Dana Lucia Stanculeanu, Adelina Gheorghe
Summary: In this retrospective study, data from 225 patients with metastatic colorectal cancer (mCRC) in Romania was analyzed. The study found that KRAS mutation had some impact on the prognosis of mCRC, and factors such as lower education, advanced tumor stage, and metastasis were associated with poorer outcomes. Understanding these variables is crucial for improving patient care and treatment strategies.
Article
Gastroenterology & Hepatology
Mehul Lamba, Kimberley Ryan, Jason Hwang, Florian Grimpen, Gary Lim, Dale Cornelius, Alan Moss, Eu Jin Lim, Gregor Brown, Nam Nguyen, Marcus Tippett, Andrew Taylor, Mark Appleyard
Summary: The study evaluated the clinical effectiveness of different bowel preparation methods before capsule endoscopy, and found that using purgatives did not improve diagnostic yield or small-bowel visualization, and was associated with lower patient tolerance.
GASTROINTESTINAL ENDOSCOPY
(2022)
Article
Oncology
Kyungsun Han, Mikyung Kim, Eun-Jung Kim, Yeon-Cheol Park, Ojin Kwon, Ae-Ran Kim, Hyo-Ju Park, Yang-Chun Park, Jung Hyo Cho, Joo-Hee Kim, Jun-Hwan Lee
Summary: The study confirmed the efficacy and safety of moxibustion for CRF compared to usual care, and it also found a prolonged treatment effect during the 4 weeks of follow-up period.
Article
Cardiac & Cardiovascular Systems
Cristina Trilla, Cristina Luna, Silvia De Leon Socorro, Leire Rodriguez, Aina Ruiz-Romero, Josefina Mora Brugues, Taysa Benitez Delgado, Marta Fabre, Alicia Martin Martinez, Sara Ruiz-Martinez, Elisa Llurba, Daniel Oros
Summary: This study aims to determine the predictive and preventive capacity of a universal first-trimester screening model for preeclampsia by determining PlGF levels in intermediate-risk patients. The screening model is expected to achieve similar diagnostic performance as universal determination of PlGF but at a lower economic cost.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemical Research Methods
Beatriz B. Oliveira, Beatriz Costa, Barbara Morao, Sandra Faias, Bruno Veigas, Lucilia Pebre Pereira, Cristina Albuquerque, Rui Maio, Marilia Cravo, Alexandra R. Fernandes, Pedro Viana Baptista
Summary: The success of personalized medicine relies on biomarker discovery for identifying patients who will benefit from specific targeted drugs. Liquid biopsies, particularly the analysis of circulating tumor DNA, are emerging as a useful tool for diagnosis, prognosis, and biomarker discovery. In this study, an ARMS-HRMA method was developed for detecting KRAS mutations, showing simplicity, shorter time to result, high sensitivity, and specificity compared to traditional sequencing and digital PCR methods. The proposed ARMS-HRMA method has the potential to improve liquid biopsy-based diagnosis and prognosis schemes.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY
(2023)
Article
Medicine, Research & Experimental
Cristina Alvarez-Peregrina, Miguel Angel Sanchez-Tena, Clara Martinez-Perez, Cesar Villa-Collar, Arne Ohlendorf
Summary: The prevalence of myopia has been increasing in Europe, and this study aims to investigate the efficacy of a new design of ophthalmic lenses for myopia control in European children.
Article
Biochemistry & Molecular Biology
Gerald M. Eibinger, Harald H. Kessler, Evelyn Stelzl, Klaus Vander, Anita Weber-Lassacher, Wilfried Renner, Markus Herrmann
Summary: Three independent laboratories in Graz, Austria conducted a continuous cross comparison of SARS-CoV-2 real time quantitative polymerase chain reaction (RT-qPCR) results. The analysis of 200 samples showed high concordance between different testing platforms, with some variability observed in samples with low viral RNA concentrations. Decision makers should consider the advantages and disadvantages of RT-qPCR for mass screening and develop suitable strategies for managing positive samples with high Ct values.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Sung-Won Choi, Se-Joon Oh, Yehree Kim, Min Young Kwak, Myung-Whan Suh, Moo Kyun Park, Chi Kyou Lee, Hong Ju Park, Soo-Keun Kong
Summary: The study demonstrated that navigation-guided balloon Eustachian tuboplasty is a safe and more effective treatment option compared to medical management alone for patients with chronic Eustachian tube dilatory dysfunction. This conclusion was drawn based on improvements in symptoms, tympanogram results, and air-bone gap differences.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J. Scott, Paul A. James, Ian G. Campbell
Summary: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. This study shows that a clinically important proportion of PALB2 pathogenic mutations in Australian patients with familial breast cancer are large genomic rearrangements (LGRs).
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Geriatrics & Gerontology
Mary Revelas, Anbupalam Thalamuthu, Anna Zettergren, Christopher Oldmeadow, Jenna Najar, Nazib M. Seidu, Nicola J. Armstrong, Carlos Riveros, John B. Kwok, Peter R. Schofield, Julian N. Trollor, Margda Waern, Margaret J. Wright, Henrik Zetterberg, David Ames, Kaj Belnnow, Henry Brodaty, Rodney J. Scott, Ingmar Skoog, John R. Attia, Perminder S. Sachdev, Karen A. Mather
Summary: This study found that individuals with a high polygenic risk for exceptional longevity have a lower prevalence of metabolic syndrome, suggesting that high-risk individuals have a healthy metabolic profile that promotes longevity.
Article
Oncology
Belle W. X. Lim, Na Li, Sakshi Mahale, Simone M. McInerny, Magnus Zethoven, Simone M. Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J. Scott, Erica K. Sloan, Paul A. James, Ian G. Campbell
Summary: This study found that BARD1 and RAD51D behave as classic BRCA-like predisposition genes with biallelic loss in breast cancer. In contrast to other breast cancer-related genes, CHEK2 gene lacks biallelic loss, but this does not definitively exclude its involvement in breast cancer predisposition.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Pathology
Sung-liang Yu, Yi-jing Hsiao, Wendy A. Cooper, Yoon-la Choi, A. L. E. J. A. N. D. R. O. Aviles-salas, Teh-ying Chou, R. E. N. A. T. A. Coudry, Grigory A. Raskin, Stephen B. Fox, Chao-cheng Huang, Yoon Kyung Jeon, Young-hyeh Ko, Wen-hui Ku, Ghee-young Kwon, C. O. N. N. U. L. L. Leslie, Mei-chun Lin, Pei-jen Lou, C. R. I. S. T. O. V. A. M. Scapulatempo-neto, Saulo Mendoza Ramirez, N. I. K. I. T. A. Savelov, Hyo-sup Shim, Cesar Octavio Lara Torres, Isabela Werneck Cunha, L. A. R. I. S. A. Zavalishina, Yan-ming Chen
Summary: This study assessed the performance of PD-L1 diagnostic assays in NSCLC, HNSCC, and UC. The results showed that the performance of Ventana SP263 and Dako 22C3 assays was comparable in NSCLC and HNSCC. However, in UC, the performance of Ventana SP263 assay was less reliable and may impact treatment decisions.
Review
Cell Biology
Benjamin Yongcheng Tan, Stephen B. Fox, Sunil R. Lakhani, Puay Hoon Tan
Summary: Grading of breast phyllodes tumors (PTs) varies due to differences in weighting of grading criteria by pathologists. Key diagnostic criteria include increased stromal cellularity, stromal overgrowth, increased stromal mitoses, stromal atypia, stromal fronding, irregular tumor borders, and/or lesional heterogeneity. Clinical and radiological findings, as well as age, also play important roles in determining the diagnosis.
Review
Cell Biology
Ruwangi Udayasiri, Tongtong Luo, Kylie L. Gorringe, Stephen B. Fox
Summary: Ductal carcinoma in situ (DCIS) is a non-invasive breast tumor with the potential to progress to invasive ductal carcinoma (IDC). The current inability to accurately predict the invasive potential of DCIS leads to both over-treatment and under-treatment in patients. Better understanding of the molecular features of DCIS could improve treatment decision-making and avoid unnecessary side-effects. This review summarizes the current knowledge of DCIS and discusses future research directions.
Article
Cell Biology
Nur Diyana Md Nasir, Valerie C. Y. Koh, Ian A. Cree, Blanca I. I. Ruiz, Javier Del Aguila, Subasri Armon, Stephen B. Fox, Sunil R. Lakhani, Puay Hoon Tan
Summary: In this study, an evidence gap map (EGM) was developed based on the literature cited in the PT chapter of the breast WCT. The EGM revealed a lack of high-level evidence citations and an uneven distribution of references. Future work is needed to bridge evidence gaps and broaden citations.
Article
Pathology
Matthew Phillip Humphries, Victoria Bingham, Fatima Abdullah Sidi, Stephanie Craig, Beatrize Lara, Hesham El-daly, Nicole O'Doherty, Perry Maxwell, Claire Lewis, Stephen McQuaid, James Lyness, Jacqueline James, David R. J. Snead, Manuel Salto-Tellez
Summary: In this study, a validated protocol using multiplex immunofluorescence (mIF) was described for the exploration of the molecular physiopathology of SARS-CoV-2 pulmonary disease. Validated assays originally developed for the detection of SARS-CoV-2 in tissues were applied to map the adaptive immune response at protein and mRNA levels. The mIF panels showed robust, reliable, and quantifiable performance in detecting topographic variations in inflammation related to pathological processes in formalin-fixed, paraffin-embedded pneumonia material.
JOURNAL OF CLINICAL PATHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Constantinos Constantinides, Laura K. M. Han, Clara Alloza, Linda Antonella Antonucci, Celso Arango, Rosa Ayesa-Arriola, Nerisa Banaj, Alessandro Bertolino, Stefan Borgwardt, Jason Bruggemann, Juan Bustillo, Oleg Bykhovski, Vince Calhoun, Vaughan Carr, Stanley Catts, Young-Chul Chung, Benedicto Crespo-Facorro, Covadonga M. Diaz-Caneja, Gary Donohoe, Stefan Du Plessis, Jesse Edmond, Stefan Ehrlich, Robin Emsley, Lisa T. Eyler, Paola Fuentes-Claramonte, Foivos Georgiadis, Melissa Green, Amalia Guerrero-Pedraza, Minji Ha, Tim Hahn, Frans A. Henskens, Laurena Holleran, Stephanie Homan, Philipp Homan, Neda Jahanshad, Joost Janssen, Ellen Ji, Stefan Kaiser, Vasily Kaleda, Minah Kim, Woo-Sung Kim, Matthias Kirschner, Peter Kochunov, Yoo Bin Kwak, Jun Soo Kwon, Irina Lebedeva, Jingyu Liu, Patricia Mitchie, Stijn Michielse, David Mothersill, Bryan Mowry, Victor Ortiz-Garcia de la Foz, Christos Pantelis, Giulio Pergola, Fabrizio Piras, Edith Pomarol-Clotet, Adrian Preda, Yann Quide, Paul E. Rasser, Kelly Rootes-Murdy, Raymond Salvador, Marina Sangiuliano, Salvador Sarro, Ulrich Schall, Andre Schmidt, Rodney J. Scott, Pierluigi Selvaggi, Kang Sim, Antonin Skoch, Gianfranco Spalletta, Filip Spaniel, Sophia Thomopoulos, David Tomecek, Alexander S. Tomyshev, Diana Tordesillas-Gutierrez, Therese van Amelsvoort, Javier Vazquez-Bourgon, Daniela Vecchio, Aristotle Voineskos, Cynthia S. Weickert, Thomas Weickert, Paul M. Thompson, Lianne Schmaal, Theo G. M. van Erp, Jessica Turner, James H. Cole, Danai Dima, Esther Walton
Summary: Schizophrenia patients show evidence of advanced brain ageing, which is not associated with clinical characteristics.
MOLECULAR PSYCHIATRY
(2023)
Article
Clinical Neurology
Mark K. Bakker, Jos P. Kanning, Gad Abraham, Amy E. Martinsen, Bendik S. Winsvold, John-Anker Zwart, Romain Bourcier, Tomonobu Sawada, Masaru Koido, Yoichiro Kamatani, Sandrine Morel, Philippe Amouyel, Stephanie Debette, Philippe Bijlenga, Takiy Berrandou, Santhi K. Ganesh, Nabila Bouatia-Naji, Gregory Jones, Matthew Bown, Gabriel J. E. HUNT All In Stroke, Jan H. CADISP Grp, Ynte M. Int Consortium Blood Pressure, Int Headache Genetics Consortium, ISGC, Intracranial Aneurysm Working Grp, Gabriel J. E. Rinkel, Jan Veldink, Ynte Ruigrok
Summary: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to have potential for genetic risk prediction. However, a genetic risk score incorporating these factors only showed limited predictive value for IA presence and ASAH incidence, suggesting that it may not be suitable for daily clinical use.
Editorial Material
Oncology
Manuel Salto-Tellez, Jorge S. Reis-Filho
Article
Genetics & Heredity
Daniel R. A. Cox, Tess McClure, Fan Zhang, Boris Ka Leong Wong, Adam Testro, Su Kah Goh, Vijayaragavan Muralidharan, Alexander Dobrovic
Summary: Both graft-specific DNA methylation analysis and donor-recipient genotyping techniques successfully quantified gdcfDNA in patients post-liver transplantation, with significant correlation. While the two techniques performed similarly, gdcfDNA monitoring based on graft-specific DNA methylation patterns in cfDNA offers greater practical advantages and enhances the potential for clinical translation.
Article
Biochemistry & Molecular Biology
Alexandre Xavier, Vicki E. Maltby, Ewoud Ewing, Maria Pia Campagna, Sean M. Burnard, Jesper N. Tegner, Mark Slee, Helmut Butzkueven, Ingrid Kockum, Lara Kular, Vilija G. Jokubaitis, Trevor Kilpatrick, Lars Alfredsson, Maja Jagodic, Anne-Louise Ponsonby, Bruce V. Taylor, Rodney J. Scott, Rodney A. Lea, Jeannette Lechner-Scott
Summary: This study reveals that DNA methylation differences in multiple sclerosis (MS) occur independently of known genetic risk loci. It shows that these differences more effectively differentiate the disease compared to known genetic risk loci. The study also indicates that the methylation differences in MS predominantly occur in B cells and monocytes, involving cell-specific biological pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Alice Geaney, Paul O'Reilly, Perry Maxwell, Jacqueline A. James, Darragh Mcart, Manuel Salto-Tellez
Summary: Digital pathology and artificial intelligence have transformed oncology research and cancer diagnostics, allowing for better interpretation of pathology images and improved quantitation of biomarkers. Different approaches of artificial intelligence can solve various problems in pathology workflows and have the potential to revolutionize clinical trials and create complex biomarkers for cancer patients.
Review
Cell Biology
Jia-Min B. Pang, David J. Byrne, Alice R. T. Bergin, Franco Caramia, Sherene Loi, Kylie L. Gorringe, Stephen B. Fox
Summary: In recent years, molecular findings have been incorporated into routine diagnostic practice of anatomical pathology, revolutionizing the field. Spatial transcriptomics, a group of technologies that provide transcriptome-wide expression profiling while preserving spatial origin of the data, allows analysis of highly specific areas within a tissue section and correlation of expression data with morphology, tissue type, and location relative to other structures. Some spatial transcriptomics methods are now compatible with formalin-fixed paraffin-embedded tissue (FFPE), potentially leading to their incorporation in routine anatomical pathology practice.
