Article
Biology
Maria Guarnaccia, Laura Guarnaccia, Valentina La Cognata, Stefania Elena Navone, Rolando Campanella, Antonella Ampollini, Marco Locatelli, Monica Miozzo, Giovanni Marfia, Sebastiano Cavallaro
Summary: The study developed a targeted next-generation sequencing approach for analyzing genetic variations and chromosomal aberrations in gliomas, which can provide accurate and specific assessment of tumor pathogenesis, prognosis, and treatment response. This has important implications for the diagnosis and treatment of gliomas.
Article
Transplantation
M. Adela Mansilla, Ramakrishna R. Sompallae, Carla J. Nishimura, Anne E. Kwitek, Mycah J. Kimble, Margaret E. Freese, Colleen A. Campbell, Richard J. Smith, Christie P. Thomas
Summary: Genetic testing was found to be valuable in the evaluation of renal patients, with a high diagnostic rate in patients and the potential to change clinical diagnosis. The study highlights the importance of incorporating broad genetic testing in the management of kidney diseases.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Genetics & Heredity
Alesa Kristan, Tadej Pajic, Ales Maver, Tadeja Rezen, Tanja Kunej, Rok Kolic, Andrej Vuga, Martina Fink, Spela Zula, Helena Podgornik, Sasa Anzej Doma, Irena Preloznik Zupan, Damjana Rozman, Natasa Debeljak
Summary: An erythrocytosis is characterized by an increase in red blood cell mass, often associated with genetic variants in genes related to oxygen sensing, hematopoietic cell maturation, and oxygen transfer. Classical sequencing approaches may only provide a correct diagnosis for a fraction of patients with congenital erythrocytosis, as the genetic background of the disorder is more complex and involves additional genes. A targeted next-generation sequencing approach was used in this study to identify genetic variants in patients with unexplained erythrocytosis, leading to the discovery of pathogenic and novel variants in relevant genes, as well as the identification of potential associations with iron metabolism genes. This study contributes to improving the diagnosis and management of Slovenian patients with erythrocytosis and provides insights for future research into the etiology of this rare hematological disorder.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
You-Kang Chang, Hui-Hwa Tseng, Chung-Man Leung, Kuo-Cheng Lu, Kuo-Wang Tsai
Summary: This study investigates the relationship between oncogenic and tumor-suppressive gene mutations and the outcomes of patients with rectal carcinoma receiving neoadjuvant chemoradiotherapy (nCRT). The results suggest that mutations in BRAF, SMAD4, and TP53 genes may be associated with the response to nCRT in patients with rectal adenocarcinoma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Ferhat Guzel, Micol Romano, Erdi Keles, David Piskin, Seza Ozen, Hakan Poyrazoglu, Ozgur Kasapcopur, Erkan Demirkaya
Summary: This study describes the development and validation of an NGS-based multiplex array for targeted sequencing of nine genes associated with common AIDs, offering a cost-effective, comprehensive, and informative screening tool compared to other methods.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari
Summary: This study aimed to investigate the genetic causes of end-stage renal disease (ESRD) in Saudi kidney disease patients, using a targeted next-generation sequencing gene panel. The results identified several genetic variants associated with ESRD and CKD in this population, including novel variants not previously reported in other populations. Further studies are needed to validate these findings in larger sample sizes and different ethnic groups.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Zihan Zhou, Peifeng Li, Xianbin Zhang, Juan Xu, Jin Xu, Shui Yu, Dongqing Wang, Wei Dong, Xiujuan Cao, Hongjiang Yan, Mingping Sun, Xiuping Ding, Jun Xing, Peng Zhang, Limin Zhai, Tingyong Fan, Shiyu Tian, Xinhua Yang, Man Hu
Summary: A comprehensive mutational landscape of nasopharyngeal carcinoma tumors was drawn in this study, identifying the top 20 most frequently mutated genes and predictors such as N stage, tumor mutational burden (TMB), PIK3CA, and SF3B1. A novel four predictor-based prognostic model was established, showing superior predictive capacity compared to the TNM stage model. Patients with tumors harboring PI3K/AKT or RAS pathway mutations were found to have worse distant metastasis-free survival than those with wild-type counterparts.
MOLECULAR MEDICINE
(2022)
Article
Pathology
J. Lippert, S. Bonlokke, A. Utke, B. R. Knudsen, B. S. Sorensen, T. Steiniche, M. Stougaard
Summary: The study demonstrates that targeted NGS is effective in detecting and genotyping HPV in both FFPE biopsies and plasma samples. This method provides early diagnosis and prognosis for cervical cancer progression, enhancing recovery and survival potential for patients.
EXPERIMENTAL AND MOLECULAR PATHOLOGY
(2021)
Article
Medical Laboratory Technology
Xiaohua Fang, Chaofeng Zhu, Xiaofan Zhu, Yin Feng, Zhihui Jiao, Huikun Duan, Xiangdong Kong, Ning Liu
Summary: This study evaluated gene variations in Chinese MPS patients using targeted NGS technology and identified 11 novel variants associated with disease. MPS II was found to be the most common type in China. The study expands the variation spectrum of MPS, which is important for disease management and genetic counseling.
CLINICA CHIMICA ACTA
(2022)
Article
Oncology
Federico Pio Fabrizio, Stefano Castellana, Flavia Centra, Angelo Sparaneo, Mario Mastroianno, Tommaso Mazza, Michelina Coco, Domenico Trombetta, Nicola Cingolani, Antonella Centonza, Paolo Graziano, Evaristo Maiello, Vito Michele Fazio, Lucia Anna Muscarella
Summary: DNA methylation is a significant epigenetic mark in cancer cells, and methylation profiles have been suggested as promising biomarkers for cancer. Researchers designed and validated a novel targeted NGS panel for methylation analysis, which can evaluate methylation levels of multiple cancer-related genes simultaneously.
FRONTIERS IN ONCOLOGY
(2022)
Article
Infectious Diseases
Simon Hosbond Poulsen, Kirstine Kobberoe Sogaard, Kurt Fuursted, Hans Linde Nielsen
Summary: This study retrospectively evaluated the diagnostic accuracy and clinical utility of 16S/18S tNGS in the routine clinical setting. The results showed that tNGS had a certain sensitivity and specificity for detecting pathogenic microorganisms and could detect a greater variety of bacteria and fungi. However, the long turnaround time of tNGS and limited impact on clinical management were observed.
INFECTIOUS DISEASES
(2023)
Article
Oncology
Vijaya Kadam Maruthi, Mahyar Khazaeli, Devi Jeyachandran, Mohamed Mokhtar Desouki
Summary: Targeted therapy based on test results has high clinical utility and can improve survival for gynecologic cancer patients.
Article
Genetics & Heredity
Pham Nguyen Quy, Keita Fukuyama, Masashi Kanai, Tadayuki Kou, Tomohiro Kondo, Masahiro Yoshioka, Junichi Matsubara, Tomohiro Sakuma, Sachiko Minamiguchi, Shigemi Matsumoto, Manabu Muto
Summary: Tumor heterogeneity can cause inter-assay discordance in next-generation sequencing results. The concordance between two different assays can also be affected by sample types and the analytical features of each panel.
BMC MEDICAL GENOMICS
(2022)
Article
Multidisciplinary Sciences
Zonggao Shi, Jacqueline Lopez, William Kalliney, Bobbie Sutton, Joyce Simpson, Kevin Maggert, Sheng Liu, Jun Wan, M. Sharon Stack
Summary: We developed a targeted next generation sequencing panel for clinically actionable gene mutations and validated its performance in library construction, sequencing, and variant calling. High concordance with reference materials and other mutation detection methods was observed.
Article
Immunology
Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Marielle E. van Gijn, Joris M. van Montfrans
Summary: Inborn errors of immunity (IEI) are a diverse group of disorders affecting different parts of the immune system. A study in the Netherlands found that early NGS evaluation for IEI showed higher diagnostic yield in pediatric patients, especially in the categories of immune dysregulation and phagocyte diseases. Patients with a definitive genetic diagnosis experienced significant changes in disease management, highlighting the importance of early and accurate diagnosis in IEI.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Jumari Snyman, Shi-Hsia Hwa, Robert Krause, Daniel Muema, Tarylee Reddy, Yashica Ganga, Farina Karim, Alasdair Leslie, Alex Sigal, Thumbi Ndung'u
Summary: This study in Durban, South Africa, found similar antibody responses and neutralization potency against SARS-CoV-2 in people living with HIV and those without HIV, indicating that natural COVID-19 infections may confer comparable antibody immunity in these groups.
CLINICAL INFECTIOUS DISEASES
(2022)
Article
Rheumatology
Paul Brogan, Rae S. M. Yeung, Gavin Cleary, Satyapal Rangaraj, Ozgur Kasapcopur, Aimee O. Hersh, Suzanne Li, Dusan Paripovic, Kenneth Schikler, Andrew Zeft, Claudia Bracaglia, Despina Eleftheriou, Pooneh Pordeli, Simone Melega, Candice Jamois, Jacques Gaudreault, Margaret Michalska, Paul Brunetta, Jennifer C. Cooper, Patricia B. Lehane
Summary: In this study, 25 pediatric patients with new-onset or relapsing GPA or MPA completed the remission-induction phase with RTX treatment. Most patients experienced mild to moderate infusion-related adverse events, and the study results showed that RTX is well tolerated and effective in pediatric patients with GPA or MPA.
ARTHRITIS & RHEUMATOLOGY
(2022)
Article
Rheumatology
Marta Bustaffa, Isabelle Kone-Paut, Seza Ozen, Gayane Amaryan, Efimia Papadopoulou-Alataki, Romina Gallizzi, Maria Carrabba, Yonatan Butbul Aviel, Luca Cantarini, Maria Alessio, Jordi Anton, Laura Obici, Faysal Gok, Ezgi Deniz Batu, Estefania Moreno, Paul Brogan, Maria Trachana, Gabriele Simonini, Donato Rigante, Yosef Uziel, Antonella Insalaco, Maria Cristina Maggio, Nicolino Ruperto, Marco Gattorno, L. Rossi Semerano
Summary: The new EPCC and INSAID classification of MEFV variants can identify two distinct groups of FMF patients, which differ in clinical characteristics, therapeutic approach, and response to treatment.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2022)
Article
Rheumatology
Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura A. Adang, Thais Armangue, Kathe Barchus, Devon R. Cordova, Yanick J. Crow, Russell C. Dale, Karen L. Durrant, Despina Eleftheriou, Elisa M. Fazzi, Marco Gattorno, Francesco Gavazzi, Eric P. Hanson, Min Ae Lee-Kirsch, Gina A. Montealegre Sanchez, Benedicte Neven, Simona Orcesi, Seza Ozen, M. Cecilia Poli, Elliot Schumacher, Davide Tonduti, Katsiaryna Uss, Daniel Aletaha, Brian M. Feldman, Adeline Vanderver, Paul A. Brogan, Raphaela Goldbach-Mansky
Summary: This study aims to improve the diagnosis, treatment, and long-term monitoring of patients with autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS. The research team developed guidelines and considerations to enhance care quality and disease outcomes.
ARTHRITIS & RHEUMATOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann
Summary: Idiopathic recurrent pericarditis (IRP) is a rare disease with significant morbidity, often requiring corticosteroid treatment. This study found that IRP is associated with variants in the MEFV gene, which is involved in interleukin-1 beta processing. Patients with IRP often exhibit systemic inflammation and extrapericardial effusions, and corticosteroid dependence is linked to chronic noninflammatory pain.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Immunology
Francesca I. F. Arrigoni, Moira Spyer, Patricia Hunter, Dagmar Alber, Cissy Kityo, James Hakim, Allen Matubu, Patrick Olal, Nicholas I. Paton, A. Sarah Walker, Nigel Klein, EARNEST Trial Team
Summary: This study explored the effects of different levels of loss of viral control on immune reconstitution and activation. The results showed little difference between continuous suppression and transient or low-level rebound, while individuals with high-level rebound/nonresponse experienced significant immune activation and impaired reconstitution.
Article
Immunology
Auchara Tangsathapornpong, Sira Nanthapisal, Kanassanan Pontan, Pornumpa Bunjoungmanee, Yamonbhorn Neamkul, Arthit Boonyarangkul, Supattra Wanpen, Waraphon Fukpho, Sumana Jitpokasem, Phuntila Tharabenjasin, Peera Jaru-Ampornpan
Summary: The study evaluated the B and T cell immunogenicity and reactogenicity of the mRNA-1273 COVID-19 booster vaccine in adults who had previously received two doses of either the CoronaVac or AZD1222 vaccine. Results showed that the booster vaccine significantly increased the immune response, as indicated by higher levels of anti-RBD IgG and sVNT inhibition. The T cell response was also enhanced, with similar increases in both vaccine groups. This study provides evidence for the effectiveness of the mRNA-1273 booster in the Thai population.
Article
Medicine, General & Internal
Pui Y. Lee, Brad A. Davidson, Roshini S. Abraham, Blanche Alter, Juan I. Arostegui, Katherine Bell, Alexandre Belot, Jenna R. E. Bergerson, Timothy J. Bernard, Paul A. Brogan, Yackov Berkun, Natalie T. Deuitch, Dimana Dimitrova, Sophie A. Georgin-Lavialle, Marco Gattorno, Bodo Grimbacher, Hasan Hashem, Michael S. Hershfield, Rebecca N. Ichord, Kazushi Izawa, Jennifer A. Kanakry, Raju P. Khubchandani, Femke C. C. Klouwer, Evan A. Luton, Ada W. Man, Isabelle Meyts, Joris M. Van Montfrans, Seza Ozen, Janna Saarela, Gustavo C. Santo, Aman Sharma, Ariane Soldatos, Rachel Sparks, Troy R. Torgerson, Ignacio Leandro Uriarte, Taryn A. B. Youngstein, Qing Zhou, Ivona Aksentijevich, Daniel L. Kastner, Eugene P. Chambers, Amanda K. Ombrello
Summary: Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and adults. This study provides consensus statements for the evaluation and management of DADA2, a potentially fatal disease that requires early diagnosis and treatment.
Article
Immunology
Hannah Castro, Caroline Sabin, Intira Jeannie Collins, Hajra Okhai, Katrine Schou Sandgaard, Katia Prime, Caroline Foster, Marthe Le Prevost, Siobhan Crichton, Nigel Klein, Ali Judd, Collaborative HIV Paediat Study, UK Collaborative HIV Cohort Study
Summary: This study examined the changes and predictors of CD4 count over time in PHIV patients in the UK. It was found that starting ART before the age of 10 and having a higher CD4 z-score in childhood were associated with a smaller decline in CD4 count after the age of 10. On the other hand, starting ART before the age of 10 and having a lower CD4 z-score in childhood were associated with a steeper decline in CD4 count after the age of 10.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Immunology
Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Vanessa Sancho-Shimizu, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Paul A. Brogan
Summary: We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. This study describes 5 affected patients from 2 unrelated families with compound heterozygous mutations in IRAK4 resulting in severe systemic autoinflammation, massive splenomegaly and severe transfusion dependent anemia and, in 3/5 cases, severe neuroinflammation and seizures. Immunological analysis demonstrated elevated levels of pro-inflammatory cytokines in affected patients.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Pediatrics
C. M. Foley, D. Mckenna, K. Gallagher, K. Mclellan, H. Alkhdher, S. Lacassagne, E. Moraitis, C. Papadopoulou, C. Pilkington, M. Al Obaidi, D. Eleftheriou, P. Brogan
Summary: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory disorder involving innate and adaptive immunity. Research shows that early use of IL-1 or IL-6 blockade as first-line treatment is effective. This study reviewed the medical records of sJIA patients over a 16-year period and examined clinical presentation, treatment interventions, and remission rates. The results indicate that patients who received early biologic treatment achieved higher rates of clinical remission.
FRONTIERS IN PEDIATRICS
(2023)
Article
Pediatrics
Anna Turkova, Ellen White, Adeodata R. Kekitiinwa, Vivian Mumbiro, Elizabeth Kaudha, Afaaf Liberty, Grace Miriam Ahimbisibwe, Tumelo Moloantoa, Ussanee Srirompotong, Nozibusiso Rejoice Mosia, Thanyawee Puthanakit, Robin Kobbe, Claudia Fortuny, Hajira Kataike, Dickson Bbuye, Sathaporn Na-Rajsima, Alexandra Coelho, Abbas Lugemwa, Mutsa F. Bwakura-Dangarembizi, Nigel Klein, Hilda A. Mujuru, Cissy Kityo, Mark F. Cotton, Rashida A. Ferrand, Carlo Giaquinto, Pablo Rojo, Avy Violari, Diana M. Gibb, ODYSSEY Trial Team
Summary: This study evaluated the neuropsychiatric manifestations in children and adolescents treated with dolutegravir-based treatment compared to alternative antiretroviral therapy. Numerically, more participants in the dolutegravir group reported psychiatric events and suicidal ideation than those in the standard-of-care group, but these differences should be interpreted cautiously in an open-label trial.
LANCET CHILD & ADOLESCENT HEALTH
(2023)
Article
Rheumatology
Fabrizio De Benedetti, Alexei A. Grom, Paul A. Brogan, Claudia Bracaglia, Manuela Pardeo, Giulia Marucci, Despina Eleftheriou, Charalampia Papadopoulou, Grant S. Schulert, Pierre Quartier, Jordi Anton, Christian Laveille, Rikke Frederiksen, Veronica Asnaghi, Maria Ballabio, Philippe Jacqmin, Cristina de Min
Summary: The objective of this study was to confirm the adequacy of an emapalumab dosing regimen in relation to interferon-γ (IFN-γ) activity and assess its efficacy and safety in treating MAS secondary to sJIA or AOSD. The results showed that emapalumab was efficacious in inducing remission of MAS and viral infections were observed.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Meeting Abstract
Rheumatology
Adriana Almeida de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray Passo, Farzana Bhuyan, Sara Alehashemi, Andre Rastegar, Kat Uss, Lela Kardova, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David Kleiner, Colleen Hadigan, Stephen Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Stephen Brooks, Eric Meffre, Rebecca Harper, Hyesun Kuehn, Mariana Kaplan, Paul Brogan, Sergio Rosenzweig, Zuoming Deng, Anna Huttenlocher, Susan Moir, Douglas Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky
ARTHRITIS & RHEUMATOLOGY
(2022)
Article
Immunology
Alessandra Ruggiero, Giuseppe Rubens Pascucci, Nicola Cotugno, Sara Dominguez-Rodriguez, Stefano Rinaldi, Alfredo Tagarro, Pablo Rojo, Caroline Foster, Alasdair Bamford, Anita De Rossi, Eleni Nastouli, Nigel Klein, Elena Morrocchi, Benoit Fatou, Kinga K. Smolen, Al Ozonoff, Michela Di Pastena, Katherine Luzuriaga, Hanno Steen, Carlo Giaquinto, Philip Goulder, Paolo Rossi, Ofer Levy, Savita Pahwa, Paolo Palma
Summary: Children with perinatally acquired HIV (PHIV) exhibit signs of B-cell hyperactivation despite successful antiretroviral therapy (ART), which may result in reduced cell functionality and loss of vaccine-induced immunity. This hyperactivation is associated with proteins involved in immune inflammation and complement activation pathways.
FRONTIERS IN IMMUNOLOGY
(2022)