4.6 Article

An Easy and Reliable Strategy for Making Type I Interferon Signature Analysis Comparable among Research Centers

Journal

DIAGNOSTICS
Volume 9, Issue 3, Pages -

Publisher

MDPI
DOI: 10.3390/diagnostics9030113

Keywords

interferon signature score; inter-laboratory variability; data sharing; systemic lupus erythematosus; interferonopathies; biostatistics

Funding

  1. Institute for Maternal and Child Health IRCCS Burlo Garofolo [24/2017]

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Interferon-stimulated genes (ISGs) are a set of genes whose transcription is induced by interferon (IFN). The measure of the expression of ISGs enables calculating an IFN score, which gives an indirect estimate of the exposition of cells to IFN-mediated inflammation. The measure of the IFN score is proposed for the screening of monogenic interferonopathies, like the Aicardi-Goutieres syndrome, or to stratify subjects with systemic lupus erythematosus to receive IFN-targeted treatments. Apart from these scenarios, there is no agreement on the diagnostic value of the score in distinguishing IFN-related disorders from diseases dominated by other types of cytokines. Since the IFN score is currently measured in several research hospitals, merging experiences could help define the potential of scoring IFN inflammation in clinical practice. However, the IFN score calculated at different laboratories may be hardly comparable due to the distinct sets of IFN-stimulated genes assessed and to different controls used for data normalization. We developed a reliable approach to minimize the inter-laboratory variability, thereby providing shared strategies for the IFN signature analysis and allowing different centers to compare data and merge their experiences.

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Article Hematology

Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000-2021: a systematic analysis from the Global Burden of Disease Study 2021

Azalea M. Thomson, Theresa A. McHugh, Assaf P. Oron, Corey Teply, Nikhil Lonberg, Victor M. Vilchis Tella, Lauren B. Wilner, Kia Fuller, Hailey Hagins, Richard Gyan Aboagye, Melka Biratu Aboye, Eman Abu-Gharbieh, Ahmed Abu-Zaid, Isaac Yeboah Addo, Bright Opoku Ahinkorah, Aqeel Ahmad, Saif Aldeen S. AlRyalat, Hubert Amu, Aleksandr Y. Aravkin, Judie Arulappan, Maha Moh'd Wahbi Atout, Ashish D. Badiye, Sara Bagherieh, Maciej Banach, Morteza Banakar, Mainak Bardhan, Amadou Barrow, Deriba Abera Bedane, Isabela M. Bensenor, Akshaya Srikanth Bhagavathula, Pankaj Bhardwaj, Prarthna Bhardwaj, Ajay Nagesh Bhat, Zulfiqar A. Bhutta, Mariah Malak Bilalaga, Jessica Devin Bishai, Saeid Bitaraf, Archith Boloor, Muhammad Hammad Butt, Vijay Kumar Chattu, Dinh-Toi Chu, Omid Dadras, Xiaochen Dai, Bardia Danaei, Anh Kim Dang, Fitsum Wolde Demisse, Meghnath Dhimal, Daniel Diaz, Shirin Djalalinia, Deepa Dongarwar, Muhammed Elhadi, Mohamed A. Elmonem, Christopher Imokhuede Esezobor, Farshid Etaee, Oghenowede Eyawo, Adeniyi Francis Fagbamigbe, Ali Fatehizadeh, Lisa M. Force, William M. Gardner, Kazem Ghaffari, Paramjit Singh Gill, Mahaveer Golechha, Pouya Goleij, Vivek Kumar Gupta, Hamidreza Hasani, Treska S. Hassan, Mohammed Bheser Hassen, Segun Emmanuel Ibitoye, Adalia I. Ikiroma, Chidozie C. D. Iwu, Peter Bai James, Shubha Jayaram, Rime Jebai, Ravi Prakash Jha, Nitin Joseph, Farnaz Kalantar, Himal Kandel, Ibraheem M. Karaye, Woldeteklehaymanot Dagne Kassahun, Imteyaz A. Khan, Shaghayegh Khanmohammadi, Adnan Kisa, Farzad Kompani, Kewal Krishan, Ivan Landires, Stephen S. Lim, Preetam Bhalchandra Mahajan, Soleiman Mahjoub, Azeem Majeed, Bishnu P. Marasini, Haftu Asmerom Meresa, Tomislav Mestrovic, Sonica Minhas, Awoke Misganaw, Ali H. Mokdad, Lorenzo Monasta, Ghulam Mustafa, Tapas Sadasivan Nair, Sreenivas Narasimha Swamy, Hasan Nassereldine, Zuhair S. Natto, Muhammad Naveed, Biswa Prakash Nayak, Jean Jacques Noubiap, Taylor Noyes, Chisom Adaobi Nri-ezedi, Vincent Ebuka Nwatah, Chimezie Igwegbe Nzoputam, Ogochukwu Janet Nzoputam, Osaretin Christabel Okonji, Adeyinka Omoniyi Onikan, Mayowa O. Owolabi, Jay Patel, Siddhartha Pati, Shrikant Pawar, Ionela-Roxana Petcu, Frederic B. Piel, Ibrahim Qattea, Mehran Rahimi, Mosiur Rahman, Salman Rawaf, Elrashdy Moustafa Mohamed Redwan, Nazila Rezaei, Basema Saddik, Umar Saeed, Fatemeh Saheb Sharif-Askari, Abdallah M. Samy, Austin E. Schumacher, Elaheh Shaker, Adithi Shetty, Migbar Mekonnen Sibhat, Jasvinder A. Singh, Muhammad Suleman, Dev Ram Sunuwar, Mindy D. Szeto, Jacques J. L. Lukenze Tamuzi, Nathan Y. Tat, Birhan Tsegaw Taye, Mohamad-Hani Temsah, Muhammad Umair, Sahel Valadan Tahbaz, Cong Wang, Nuwan Darshana Wickramasinghe, Arzu Yigit, Vahit Yigit, Ismaeel Yunusa, Burhan Abdullah Zaman, Moein Zangiabadian, Peng Zheng, Simon Hay, Mohsen Naghavi, Christopher J. L. Murray, Nicholas J. Kassebaum

Summary: This study provides a comprehensive global assessment of the prevalence and mortality burden of sickle cell disease. It reveals a strikingly high contribution of sickle cell disease to overall mortality, especially in children. Comprehensive strategies are needed to address the morbidity and mortality associated with sickle cell disease.

LANCET HAEMATOLOGY (2023)

Article Biochemistry & Molecular Biology

Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment

Valentina Boz, Alessandra Tesser, Martina Girardelli, Francesca Burlo, Alessia Pin, Giovanni Maria Severini, Ginevra De Marchi, Federico Verzegnassi, Samuele Naviglio, Alberto Tommasini, Erica Valencic

Summary: Inborn errors of immunity associated with immune dysregulation are not adequately addressed in shared recommendation. Precision medicine is urgently needed to diagnose and treat these defects before severe complications occur. Our study confirms that a significant number of children with IEIs may display immune dysregulation symptoms and share similarities with common immune conditions.

BIOMEDICINES (2023)

Article Pediatrics

Final adult height in childhood-onset inflammatory bowel disease

Andrea Taddio, Gabriele Cont, Eva Da Dalt, Patrizia Salierno, Egidio Barbi, Marcella Montico, Luca Ronfani, Matteo Bramuzzo, Alessandro Ventura

Summary: This study evaluated the final height in patients with pediatric-onset IBD and identified factors influencing long-term growth. The results showed that most CD and UC patients achieved the target final height, with disease severity and low height at diagnosis being predictive factors for low final height.

MINERVA PEDIATRICS (2023)

Article Pediatrics

Chronic limping in childhood, what else other than juvenile idiopathic arthritis: a case series

Cristina Tumminelli, Serena Pastore, Andrea Taddio

Summary: This study describes the clinical manifestations and disease course of different causes of limping in childhood, emphasizing the possibility of other rare conditions in atypical cases.

PEDIATRIC RHEUMATOLOGY (2023)

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