Review
Immunology
Hsi-en Ho, Charlotte Cunningham-Rundles
Summary: Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency. The pathogenesis of the CVID+ phenotype has remained unexplained for most patients, necessitating the need for relevant biomarkers in both the clinic and research settings.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Lisanne M. A. Janssen, Michiel van der Flier, Esther de Vries
Summary: Diagnostic delay in common variable immunodeficiency disorders (CVID) is considerable. No generally accepted symptom-recognition framework for its early detection exists. This study systematically reviewed existing data on the clinical presentation of CVID. The study found a bimodal sex distribution, with male predominance in children and female predominance in adults. The shift in sex distribution suggests differences in genetic and environmental etiology in CVID, with implications for pathophysiologic studies. Early detection of CVID may be improved by screening for antibody deficiency in patients with specific manifestations.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Pediatrics
Aleksandra Szczawinska-Poplonyk, Katarzyna Tapolska-Jozwaik, Eyal Schwartzmann, Natalia Poplonyk
Summary: Infections and infectious complications are common in children with common variable immunodeficiency (CVID), but this study reveals that non-infectious complications, such as autoimmune disorders and lymphoproliferative diseases, are also prevalent. The study highlights the importance of immune dysregulation in pediatric CVID and provides insights into the diagnostic approach for these patients.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Fabiana Mascarenhas Souza Lima, Myrthes Toledo-Barros, Venancio Avancini Ferreira Alves, Maria Irma Seixas Duarte, Cleusa Takakura, Carlos Felipe Bernardes-Silva, Ana Karolina Barreto Berselli Marinho, Octavio Grecco, Jorge Kalil, Cristina Maria Kokron
Summary: CVID is an inborn immune disorder that can lead to liver disease, specifically nodular regenerative hyperplasia (NRH). This study compared CVID patients with and without liver-spleen axis abnormalities and analyzed liver and duodenal biopsies to understand the pathophysiology of liver injury. The study found that NRH and lymphocytic infiltration were present in the livers of CVID patients with portal hypertension (PH). Patients with PH were more likely to have lymphadenopathy, elevated beta(2)-microglobulin, low B-lymphocyte counts, and low natural killer-lymphocyte counts.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Olivia A. C. Lamers, Bas M. Smits, Helen Louisa Leavis, Godelieve J. de Bree, Charlotte Cunningham-Rundles, Virgil A. S. H. Dalm, Hsi-en Ho, John R. Hurst, Hanna IJspeert, Sabine M. P. J. Prevaes, Alex Robinson, Astrid C. van Stigt, Suzanne Terheggen-Lagro, Annick A. J. M. van de Ven, Klaus Warnatz, Janneke H. H. M. van de Wijgert, Joris van Montfrans
Summary: The study conducted a systematic review and synthesis of published literature on the efficacy of treatments for GLILD in CVID patients, finding varying treatment response rates and a trend towards more frequent relapses in patients treated with corticosteroid monotherapy compared to rituximab-containing regimens. There is a need for further research and standardized data collection to facilitate comparison of treatment outcomes and ultimately randomized clinical trials.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Medicine, Research & Experimental
Remo Poto, Gianluca Laniro, Amato de Paulis, Giuseppe Spadaro, Gianni Marone, Antonio Gasbarrini, Gilda Varricchi
Summary: Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by low immunoglobulin levels and susceptibility to infections, autoimmune disorders, and cancer. The exact cause of CVID is unknown, but there is evidence supporting a link between the gut microbiome and CVID pathogenesis. This suggests that microbiome-based treatments, such as diet, prebiotics, probiotics, postbiotics, and fecal microbiota transplantation, could be potential therapeutic approaches for CVID.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Immunology
Moises Labrador-Horrillo, Clara Franco-Jarava, Marina Garcia-Prat, Alba Parra-Martinez, Maria Antolin, Sandra Salgado-Perandres, Aina Aguilo-Cucurull, Monica Martinez-Gallo, Roger Colobran
Summary: In this study, we reported a patient with a phenotype resembling common variable immunodeficiency (CVID) who was found to have SASH3 deficiency through severe viral infections and genetic testing. This deficiency resulted in immunodeficiency with decreased B cells and T cells, as well as abnormal T cell activation and proliferation.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Allison Remiker, Kristina Bolling, James Verbsky
Summary: CVID is a heterogeneous group of disorders characterized by abnormal B-cell differentiation and impaired production of specific immunoglobulin. Clinical manifestations vary and include recurrent bacterial infections, lymphoproliferation, autoimmunity, pulmonary disease, gastrointestinal disease, granulomas, and increased cancer risk. The diagnosis of CVID is complex, requiring exclusion of other causes of immunoglobulin deficiency and assessment based on clinical criteria models. Treatment involves regular immunoglobulin replacement therapy, infection prevention, and surveillance for complications.
MEDICAL CLINICS OF NORTH AMERICA
(2024)
Article
Immunology
Benjamin Rolles, Andres Caballero-Oteyza, Michele Proietti, Sigune Goldacker, Klaus Warnatz, Nadezhda Camacho-Ordonez, Seraina Prader, Jana Pachlopnik Schmid, Margherita Vieri, Susanne Isfort, Robert Meyer, Martin Kirschner, Tim H. Bruemmendorf, Fabian Beier, Bodo Grimbacher
Summary: Telomere biology disorders (TBD) are genetic diseases caused by pathogenic variants in genes related to telomere maintenance. TBD can manifest in adulthood and have variable symptoms, making diagnosis complicated. Common variable immunodeficiency (CVID) is an antibody deficiency syndrome caused by dysfunctional B lymphocytes. In our study, we found that approximately 22% of CVID patients carried rare candidate variants in telomere-associated genes. We recommend including all TBD-associated genes in the genetic screening of patients with antibody deficiencies.
CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Vanessa Daza-Cajigal, Marina Segura-Guerrero, Maria Lopez-Cueto, Angel Robles-Marhuenda, Carmen Camara, Teresa Gerra-Galan, Ricardo Gomez-de-la-Torre, Carmen L. Avendano-Monje, Silvia Sanchez-Ramon, Maria J. Bosque-Lopez, Adriana Quintero-Duarte, Maria L. Bonet-Vidal, Jaime Pons
Summary: This study aims to investigate the characteristics, course, and management of liver disease in patients with CVID in Spain. The results show that most patients have abnormal liver function and thrombocytopenia, with common histological findings of nodular regenerative hyperplasia and lymphocytic infiltration. The use of immunomodulators improves liver function in a significant number of patients. There is a need for international guidelines for the diagnosis and management of CVID-related liver disease.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Immunology
Saba Fekrvand, Shaghayegh Khanmohammadi, Hassan Abolhassani, Reza Yazdani
Summary: Common variable immunodeficiency (CVID) is a diverse group of immune deficiency diseases characterized by reduced levels of different immunoglobulins. The pathogenesis of CVID involves various genetic and immunological defects, with monogenic defects accounting for a significant proportion. These defects can affect B-cell development and activation, leading to clinical and immunologic manifestations.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Suran L. Fernando, Helena S- Jang, Jamma Li
Summary: CVID is a heterogeneous collection of immune dysregulation disorders, with majority of patients experiencing non-infectious complications such as autoimmunity, enteropathy, polyclonal lymphocytosis, and malignancy. Advances in next generation sequencing have led to a better understanding of the genetic basis of CVID disorders, allowing for improved diagnosis and targeted therapies. The identification of cellular abnormalities in T-cell and B-cell compartments, along with the role of innate lymphoid cells in promoting inflammation, provides valuable insights into the immune dysregulation seen in CVID patients.
IMMUNOLOGY LETTERS
(2021)
Article
Immunology
Adriana Motta-Raymundo, Pedro Rosmaninho, Diana F. Santos, Ruben D. Ferreira, Sara P. Silva, Cristina Ferreira, Ana E. Sousa, Susana L. Silva
Summary: Helicobacter pylori (HP) infection may contribute to the clinical and immune phenotype of Common Variable Immunodeficiency (CVID). HP mainly affects the gastric mucosa and increases the incidence of early onset gastric cancer in CVID patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Ali Zarezadeh Mehrabadi, Nazanin Aghamohamadi, Hassan Abolhassani, Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani
Summary: In patients with common variable immunodeficiency (CVID), skin manifestations are not rare, with approximately 40% of patients exhibiting at least one skin disorder. The most common skin complications include skin infections and non-infectious skin lesions. Eczema and vitiligo are the most prevalent complications in atopic and autoimmune/pigmentation disorders, respectively. Deleterious mutations in the LRBA gene are associated with autoimmune and atopic skin lesions.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Daniel Arroyo-Sanchez, Oscar Cabrera-Marante, Rocio Laguna-Goya, Patricia Almendro-Vazquez, Octavio Carretero, Francisco Javier Gil-Etayo, Patricia Suarez-Fernandez, Pilar Perez-Romero, Edgard Rodriguez de Frias, Antonio Serrano, Luis M. Allende, Daniel Pleguezuelo, Estela Paz-Artal
Summary: Common Variable Immunodeficiency (CVID) patients show slower humoral and cellular responses to COVID-19 vaccination compared to healthy controls. Despite most CVID patients developing S1-specific antibodies and T cells after vaccination, neutralizing antibodies were only detected in half of the patients. Those with absent or discordant responses often had a history of autoimmunity or lymphoproliferation, while recent anti-B cell antibody therapy may also weaken the response. Further studies are necessary to assess the protective efficacy of COVID-19 vaccination in CVID patients, with consideration for a third dose to achieve full immune response.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Tianyi Qiu, Han Xiao, Vladimir Brusic
Summary: The COVID-19 pandemic has posed significant challenges to global public health systems. Mathematical models have proven to be valuable tools for assessing the situation and providing decision-making support. This study found that early lockdown measures and the availability of hospital beds are the most effective in controlling the epidemic. Dynamic management of lockdown levels may yield better outcomes compared to strict lockdown measures.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Chemistry, Analytical
Shuyu Li, Sherif Welsen, Vladimir Brusic
Summary: WiFi-based indoor positioning has attracted extensive research, but the factors affecting localization accuracy are still unclear. Distance, obstacles, corner locations, AP positions, and the angular orientation of the antenna array were identified as key factors affecting localization accuracy. Improved algorithms or deploying multiple APs can enhance localization accuracy.
Article
Chemistry, Multidisciplinary
Jindong Zhao, Donghong Zhang, Wenxuan Liu, Xiuqin Qiu, Vladimir Brusic
Summary: This paper proposes a DHT-based blockchain dual-sharding storage extension mechanism, which divides nodes in the network into multiple clusters to alleviate storage pressure and improves query efficiency through a hybrid query mechanism.
APPLIED SCIENCES-BASEL
(2022)
Article
Parasitology
Hellyda K. T. de Andrade Silva, Taciano M. Barbosa, Marfran C. D. Santos, Jessica T. Jales, Antonio M. U. de Araujo, Camilo L. M. Morais, Leomir A. S. de Lima, Tatiana C. Bicudo, Renata A. Gama, Pablo Alves Marinho, Kassio M. G. Lima
Summary: The study used attenuated total reflection Fourier transform infrared (ATR-FTIR) spectroscopy to detect toxic substances in fly larvae from decomposing carcasses, which can assist criminal experts in determining the cause of death in suspected poisoning cases.
Article
Computer Science, Information Systems
Wenshuo Wang, Xu Li, Xiuqin Qiu, Xiang Zhang, Vladimir Brusic, Jindong Zhao
Summary: FRESH is a comprehensive smart healthcare framework based on FL and ring signature defense. It collects physiological data from individuals using wearable devices, trains ML models locally, and uploads model parameters to the central server for joint training. By utilizing ring signature to hide the source of parameter updates, it effectively resists source inference attacks.
INFORMATION PROCESSING & MANAGEMENT
(2023)
Article
Physics, Applied
Yulin Wang, Sucong Wang, Ping Liang, Vladimir Brusic, Jie Zeng, Bingjian Liu, Yuwei Ge, Jianjun Zheng, Jingfeng Zhang, Chengbo Wang
Summary: This work presents the development of a 1.5 T cryogen-free superconducting magnet for clinical MRI applications. The magnet features an 850 mm bore diameter and achieves confinement within a 0.5 mT stray magnetic field. It is conductively refrigerated using a two-stage cryocooler and maintains a steady temperature below 5.7 K during MRI scanning. The assembled MRI scanner with this cryogen-free magnet demonstrates stable performance and produces high-quality MRI images with good contrast.
SUPERCONDUCTOR SCIENCE & TECHNOLOGY
(2023)
Article
Medicine, General & Internal
Emma L. Callery, Camilo L. M. Morais, Lucy Nugent, Anthony W. Rowbottom
Summary: The aim of this study is to explore the potential of using Raman spectroscopy as a diagnostic platform for systemic lupus erythematosus (SLE). By analyzing Raman signatures in serum samples, the study successfully differentiated SLE patients from healthy controls. The results demonstrated excellent performance characteristics of Raman spectroscopy, setting the foundations for future translation into clinical practice.
Article
Multidisciplinary Sciences
Tales Gomes da Silva, Camilo L. M. Morais, Marfran C. D. Santos, Leomir A. S. de Lima, Raysa Vanessa de Medeiros Freitas, Ricardo Oliveira Guerra, Kassio M. G. Lima
Summary: This study used mid-infrared spectroscopy combined with chemometric techniques to identify osteosarcopenia based on blood serum samples. The results showed that the infrared spectroscopy of blood samples has the potential to identify osteosarcopenia in a simple, fast, and objective way.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Marcelo V. S. Alves, Lanaia I. L. Maciel, Joao O. S. Passos, Camilo L. M. Morais, Marfran C. D. dos Santos, Leomir A. S. Lima, Boniek G. Vaz, Rodrigo Pegado, Kassio M. G. Lima
Summary: This study chemically analyzed blood plasma samples from patients with and without fibromyalgia, combined with symptoms used in the diagnosis of this disease. Spectral data were organized into datasets and submitted to multivariate classification, resulting in good discrimination between controls and fibromyalgia samples. The results confirmed the technique as a good analytical tool for fibromyalgia detection and provided theoretical support for further studies on fibromyalgia diagnosis.
SCIENTIFIC REPORTS
(2023)
Article
Health Care Sciences & Services
Francis L. Martin, Camilo L. M. Morais, Andrew W. Dickinson, Tarek Saba, Thomas Bongers, Maneesh N. Singh, Danielle Bury
Summary: Saliva can be used as a liquid biopsy for screening lung cancer and prostate cancer. By analyzing the bioconstituents in saliva samples using infrared spectroscopy and principal component analysis, a highly accurate model can be built for the detection of these cancers in primary care settings.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Health Care Sciences & Services
Ishaan Maitra, Camilo L. M. Morais, Kassio M. G. Lima, Katherine M. Ashton, Danielle Bury, Ravindra S. Date, Francis L. Martin
Summary: This study demonstrates the potential of ATR-FTIR spectroscopy in classifying and differentiating different stages of oesophageal transformation to oesophageal adenocarcinoma. The study used various algorithms for variable selection and classification, with PCA-QDA showing the highest accuracy in classification. The findings highlight the importance of further research in identifying biochemical markers for early detection of neoplastic changes in susceptible epithelium.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Chemistry, Analytical
Weiyi Pang, Yu Xing, Camilo L. M. Morais, Qiufeng Lao, Shengle Li, Zipeng Qiao, You Li, Maneesh N. Singh, Valerio G. Barauna, Francis L. Martin, Zhiyong Zhang
Summary: Diabetes mellitus (DM) is a metabolic disease that is of increasing global concern. The diagnosis and detection of DM and pre-diabetes are currently complicated, expensive, and time-consuming. In this study, a discriminant model was developed using attenuated total reflection Fourier-transform infrared (ATR-FTIR) spectroscopy combined with principal component analysis linear discriminant analysis (PCA-LDA), which resulted in a high accuracy rate of 97% for diagnosing DM and pre-diabetes. This approach has significant clinical implications for intervention and risk reduction.
Proceedings Paper
Computer Science, Information Systems
Xiang Zhang, Matthew Pike, Nasser Mustafa, Vladimir Brusic
Summary: Smart health homes (SHHs) are innovative solutions that integrate wearable sensors and interconnected devices using IoT technologies to provide healthcare services at home. However, the existing regulations and standards for SHH design are insufficient, particularly in terms of ethical considerations. In this study, we identified six ethical requirements and developed a set of questions to guide the ethical software process in SHH design.
2022 IEEE 35TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)
(2022)
Proceedings Paper
Computer Science, Interdisciplinary Applications
Stuart McDonald, Dave Towey, Vladimir Brusic
Summary: This article examines the impact of smart environments on society from a software engineering design perspective, emphasizing the need for clear guidelines addressing ethical and social issues. Based on existing literature and additional analyses, ten key ethical issues, nine compliance risks, and twelve analyses of societal impact are identified.
2022 IEEE 46TH ANNUAL COMPUTERS, SOFTWARE, AND APPLICATIONS CONFERENCE (COMPSAC 2022)
(2022)
Proceedings Paper
Computer Science, Interdisciplinary Applications
Kun Shang, Stuart McDonald, Giampaolo Buticchi, Vladimir Brusic
Summary: This paper presents a development process of ethically-informed standards for intelligent monitoring systems (IMS) and highlights the gap of socio-ethical standards for IMS in both general and field-specific cases. It proposes an ethical evaluation questionnaire as an effective assessment tool for standard constructions, and demonstrates field-specific industrial cases for the development of IMS ethical standards. The paper concludes with a summary of necessary items for building the ethical standards of IMS.
2022 IEEE 46TH ANNUAL COMPUTERS, SOFTWARE, AND APPLICATIONS CONFERENCE (COMPSAC 2022)
(2022)
