Article
Endocrinology & Metabolism
C. Indolfi, A. Klain, G. Di Nardo, C. Cuppari, A. Ceravolo, D. Concolino, R. De Sarro, A. Salpietro, F. Decimo, M. Miraglia del Giudice
Summary: This article discusses the strong link between asthma and infections, as well as the potential mechanisms for translating these infections into asthma.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2022)
Article
Pharmacology & Pharmacy
Borden A. Emily, Furey Matthew, Gattone J. Nicholas, Hambardikar D. Vedangi, Liang Xiao Hua, Scoma R. Ernest, Abou Samra Antonella, D-Gary R. Lakeshia, Dennis J. Dayshaun, Fricker Daniel, Garcia Cindy, Jiang ZeCheng, Khan A. Shariq, Kumarasamy Dheenadhayalan, Kuppala Hasmitha, Ringrose Savannah, Rosenheim J. Evan, Van Exel Kimberly, Vudhayagiri Hemanth Sai, Zhang Jiarui, Zhang Zhaowen, Guitart-Mampel Mariona, Urquiza Pedro, Solesio E. Maria
Summary: Mitochondrial dysfunction is a common feature in neurodegenerative diseases such as Alzheimer's Disease and Parkinson's Disease, with inorganic polyphosphate (polyP) potentially being a promising pharmacological target against these conditions. Further research is needed to fully understand the role of polyP in neurodegeneration and its effects on cellular and mitochondrial physiology.
PHARMACOLOGICAL RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Stanislas Martin, Audrey Foulon, Wissam El Hage, Diane Dufour-Rainfray, Frederic Denis
Summary: This study aimed to investigate the role of the oropharyngeal microbiome in the pathophysiology of schizophrenia and explore the possible bidirectional link between the oral microbiota and the brain in the context of dysbiosis-related neuroinflammation. The findings suggested the presence of phageoma in patients with schizophrenia and the involvement of periodontal disease in the development of inflammation in schizophrenia. Additionally, saliva could potentially serve as a substrate for characterizing different stages of schizophrenia. However, the current knowledge on this topic is limited and more research is needed to clarify these unresolved questions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Economics
Michalis Drouvelis, Graeme Pearce
Summary: In this paper, the link between intelligence and lying is studied using two experimental paradigms: the die rolling paradigm and the mind game paradigm. The behavior of subjects is compared based on their intelligence in each paradigm, under situations where lying benefits the subject or a charitable cause. The results indicate that lying increases when it benefits a charitable cause, and there is limited evidence that more intelligent individuals increase lying when it benefits a charity. These findings are consistent with models of self-image concerns and have potential implications for the existing literature on lying.
JOURNAL OF ECONOMIC BEHAVIOR & ORGANIZATION
(2023)
Article
Immunology
Aayushi Balda, Irshad Wani, Tamsheel Fatima Roohi, Suman, K. L. Krishna, Seema Mehdi, Abhishek P. R. Nadiga, Manasa Makkapati, Awaise Iqbal Baig
Summary: Psoriasis, a chronic auto-immune-mediated disease, is associated with a significant risk of malignancies, especially skin tumors. This review examines the relationship between psoriasis and cancer risk, discusses the significance of inflammation in cancer, and explores the various classes of drugs used to treat psoriasis and how they increase the risk of cancer. The review also discusses possible mechanisms associated with inflammation and psoriasis, as well as the risk of cancer in other cutaneous auto-inflammatory diseases.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
Friederike K. Warns, Mehmet Gultas, Astrid L. van Asten, Tobias Scholz, Martina Gerken
Summary: Tail biting is a well-known issue in modern pig production, influenced by various external and internal factors. Research showed that tail biting behavior increases in the middle and end of the rearing period, with most animals observed as both biters and victims. Tail-biting pigs tend to display submissive behavior, possibly compensating for resource access with tail biting. Early identification of predisposed pigs could help reduce tail biting and its consequences. Further research should focus on pigs' personality traits for better early detection of potential tail biters.
Review
Medicine, General & Internal
Alessandro Ferretti, Mattia Gatto, Margherita Velardi, Giovanni Di Nardo, Thomas Foiadelli, Gianluca Terrin, Manuela Cecili, Umberto Raucci, Massimiliano Valeriani, Pasquale Parisi
Summary: The relationship between migraines and allergies is still not well understood, although there is an epidemiological link between them. Genetic and biological factors contribute to both migraines and allergic disorders. The histaminergic system, particularly the H3 and H4 receptors, may play a role in the pathophysiology of both conditions. Antihistamine drugs could potentially be helpful in treating migraines and allergic disorders. Further research is needed to fully understand the mechanistic link between these two common and debilitating conditions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Dorota Wronka, Anna Karlik, Julia O. Misiorek, Lukasz Przybyl
Summary: The human intestinal microbiota plays a crucial role in digestion, nutrient generation, and the host's overall health. Imbalances in the microbiota have been implicated in various diseases, including neurodegenerative disorders such as Parkinson's and Alzheimer's disease. However, little is known about the composition and interactions of the microbiome in Huntington's disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Enric Sanchez, Marta Sanchez, Carolina Lopez-Cano, Marcelino Bermudez-Lopez, Jose Manuel Valdivielso, Cristina Farras-Salles, Reinald Pamplona, Gerard Torres, Didac Mauricio, Eva Castro, Elvira Fernandez, Albert Lecube
Summary: This study assessed the impact of obesity on the accumulation of advanced glycation end-products (AGEs) and found that AGE levels were associated with abdominal adiposity but not total body fat. Furthermore, elevated AGE levels were related to cardiovascular risk factors.
Letter
Endocrinology & Metabolism
Miao-Miao Sang, Zi-Lin Sun, Tong-Zhi Wu
Summary: Patients with inflammatory bowel disease (IBD) have an increased risk of diabetes, and IBD therapies may significantly modulate blood glucose, indicating a mechanistic connection between IBD and diabetes.
WORLD JOURNAL OF DIABETES
(2022)
Article
Medicine, General & Internal
Raymond E. E. Garrett, Carlos H. H. Palacio, David Bar-Or
Summary: Metabolic causes and renal tubular injury are potential factors contributing to Long COVID symptoms. In this study, we propose three mechanisms including creatine phosphate metabolism, un-reclaimed glomerular filtrate, and injury to COVID-specific proximal tubule cells, which may play a major role in Long COVID. This research aims to improve diagnostics and therapy for long-haul sufferers.
FRONTIERS IN MEDICINE
(2023)
Article
Dermatology
Fatmanur Hacinecipoglu, Muzeyyen Gonul, Seyda Ozdemir, Omer Faruk Demir
Summary: This study investigates the role of intestinal permeability in the etiopathogenesis of alopecia areata (AA) and its association with disease severity. The results show that there is no significant relationship between serum zonulin levels and the severity of AA.
JOURNAL OF COSMETIC DERMATOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Giuseppe Murdaca, Alessandra Gerosa, Francesca Paladin, Lorena Petrocchi, Sara Banchero, Sebastiano Gangemi
Summary: The importance of both the microbiome and vitamin D in health and disease is increasingly recognized. Microbiome studies have shown unique patterns in autoimmune diseases and dysbiosis is associated with allergies. Vitamin D deficiency affects the microbiome and immune system, highlighting the need for further research in allergic diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Agriculture, Dairy & Animal Science
Pietro Asproni, Eva Mainau, Alessandro Cozzi, Ricard Carreras, Cecile Bienboire-Frosini, Eva Teruel, Patrick Pageat
Summary: This study found that farm pigs can be affected by inflammation of the vomeronasal organ, and pigs with this alteration exhibit an increased number of skin lesions caused by fights with other pigs. These results highlight a potential association between vomeronasal organ dysfunction and aggressive behavior in farm animals, which has implications for animal welfare.
Article
Immunology
Federica Saponaro, Maria Franzini, Chukwuma Okoye, Rachele Antognoli, Beatrice Campi, Marco Scalese, Tommaso Neri, Laura Carrozzi, Fabio Monzani, Riccardo Zucchi, Alessandro Celi, Aldo Paolicchi, Alessandro Saba
Summary: This study investigated the relationship between vitamin D levels and inflammatory markers in COVID-19 patients. The findings suggest that hypovitaminosis D is associated with higher levels of inflammatory markers and is related to disease severity and prognosis.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Dermatology
G. Bottesi, A. Spoto, E. Trevisson, D. Zuccarello, G. Vidotto, M. Cassina, M. Clementi
BRITISH JOURNAL OF DERMATOLOGY
(2020)
Correction
Genetics & Heredity
D. Gareth R. Evans, Roope A. Kallionpaa, Maurizio Clementi, Eva Trevisson, Victor-Felix Mautner, Sacha J. Howell, Lauren Lewis, Ouidad Zehou, Sirkku Peltonen, Antonella Brunello, Elaine F. Harkness, Pierre Wolkenstein, Juha Peltonen
GENETICS IN MEDICINE
(2020)
Article
Genetics & Heredity
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic-Vuksanovic, Laura Baker, Donald G. Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, Lola K. Clarkson, Maurizio Clementi, Fanny M. Cortes, Mitch Cunningham, M. Daniela D'Agostino, Martin B. Delatycki, Maria C. Digilio, Laura Dosa, Silvia Esposito, Stephanie Fox, Mary-Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison Goetsch, Yael Goldberg, Robert S. Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepcion Hernandez-Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly-Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert H. Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley K. McGregor, Daniela Melis, Nancy Mendelsohn, Malgorzata J. M. Nowaczyk, June Ortenberg, Karin Panzer, John G. Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Eniko K. Pivnick, Dinel A. Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela L. Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke Van den Ende, Samantha A. Schrier Vergano, Stephanie E. Wallace, Michael F. Wangler, David D. Weaver, Kaleb H. Yohay, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen B. M. Claes, Marica Eoli, Yolanda Martin, Katharina Wimmer, Alessandro De Luca, Eric Legius, Ludwine M. Messiaen
Article
Genetics & Heredity
Valeria Morbidoni, Emanuele Agolini, Kevin C. Slep, Luca Pannone, Daniela Zuccarello, Matteo Cassina, Enrico Grosso, Giorgia Gai, Leonardo Salviati, Bruno Dallapiccola, Antonio Novelli, Simone Martinelli, Eva Trevisson
Summary: This study identified candidate variants in the TOGARAM1 gene using a trio-based whole exome sequencing strategy, and conducted in silico, in vitro, and in vivo studies to investigate the impact of mutations on protein structure and function. The results suggest a causative role of TOGARAM1 variants in the pathogenesis of this novel disorder, connecting this gene with primary ciliopathy.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J. Halliday, Sixto Garcia-Minaur, Francesca Sperotto, Eva Trevisson, David Markie, Ian M. Morison, Marwan Shinawi, Daniel N. Willis, Stephen P. Robertson
Summary: Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS), characterized by bone abnormalities in females and fatal outcomes in males. Somatic variants in AMER1 are also found in Wilms tumor patients. Further research is needed to establish tumor surveillance protocols for OSCS patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Lara Macchioni, Davide Chiasserini, Letizia Mezzasoma, Magdalena Davidescu, Pier Luigi Orvietani, Katia Fettucciari, Leonardo Salviati, Barbara Cellini, Ilaria Bellezza
Summary: Age-related retinal degenerations, such as AMD, are linked to the loss of RPE cells and photoreceptors, involving oxidative stress and inflammatory responses. Long-term oxidative insult can induce senescence in RPE cells, affecting antioxidant response and mitochondrial functionality.
Review
Biochemistry & Molecular Biology
Maria Alcazar-Fabra, Francisco Rodriguez-Sanchez, Eva Trevisson, Gloria Brea-Calvo
Summary: Primary Coenzyme Q deficiencies present with diverse clinical manifestations and lack clear genotype-phenotype correlations, making diagnosis and prognosis challenging. By analyzing symptoms and patients described in existing literature, new associations between age of symptom onset and pathogenic variants have been identified, providing potential guidance for diagnosis and treatment. The development of an online platform to compile and update clinical information on CoQ deficiencies could serve as a valuable resource for clinicians in the future.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Elisa Baschiera, Ugo Sorrentino, Cristina Calderan, Maria Andrea Desbats, Leonardo Salviati
Summary: Coenzyme Q is a redox active lipid that plays a central role in cellular homeostasis, with functions beyond the respiratory chain, including involvement in metabolism and cell death regulation. Deficiency in CoQ leads to impairments in cellular bioenergetics and other pathways, highlighting the importance of understanding the complex mechanisms involved in designing new treatment approaches.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Urology & Nephrology
Franca Anglani, Leonardo Salviati, Matteo Cassina, Matteo Rigato, Laura Gobbi, Lorenzo A. Calo
Summary: Gordon's syndrome, also known as Pseudohypoaldosteronism type II, is a rare inherited form of low-renin hypertension associated with hyperkalemia and metabolic acidosis, treated with thiazide diuretic. Genes related to the syndrome include WINK1, WINK4, WNK2, WNK3, KLHL3, and CUL3.
JOURNAL OF NEPHROLOGY
(2022)
Article
Oncology
Ugo Sorrentino, Silvia Bellonzi, Chiara Mozzato, Valeria Brasson, Irene Toldo, Raffaele Parrozzani, Maurizio Clementi, Matteo Cassina, Eva Trevisson
Summary: Neurofibromatosis type 1 (NF1) patients have an increased lifetime risk of epilepsy, ranging between 4% and 14%. A retrospective study of 784 NF1 patients found a crude prevalence of epilepsy of 4.7%. Seizures in NF1 often arise in the context of neuroradiological findings, with predisposing factors including cerebral vasculopathies and hydrocephalus. In the absence of structural abnormalities, the prevalence of epilepsy is similar to the general population. NF1 patients with seizures have a higher incidence of intellectual disability and learning disabilities. There was no specific genotype-phenotype correlation in causative NF1 mutations between patients with and without epilepsy.
Article
Cell Biology
Diana Corallo, Carlo Zanon, Marcella Pantile, Gian Paolo Tonini, Angelica Zin, Samuela Francescato, Bartolomeo Rossi, Eva Trevisson, Claudia Pinato, Ezequiel Monferrer, Rosa Noguera, Salvador F. Alino, Maria Jose Herrero, Alessandra Biffi, Elisabetta Viscardi, Sanja Aveic
Summary: The genetic landscape of an aggressive NB has been depicted through comprehensive analysis, combining CNAs, SNVs, and SNPs analyses along with characterization of 3D tumoroids. The integrated approach proved powerful in evaluating clonal evolution and dynamic genomic alterations during disease progression and therapy administration, enhancing disease follow-up and tumor recurrence prediction.
Article
Biochemistry & Molecular Biology
Denis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, Leonardo Salviati, Eva Trevisson, Anna Raffaello
Summary: Alternative splicing plays a crucial role in skeletal muscle, both during myogenesis and in post-natal life, by regulating the transcripts of contractile proteins, metabolic enzymes, and transcription factors. Aberrations in alternative splicing can lead to pathological conditions. In addition, many skeletal muscle Ca2+ homeostasis genes are also regulated by alternative splicing mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Eleonora Cosmo, Luisa Frizziero, Giacomo Miglionico, Chiara Sofia De Biasi, Marisa Bruno, Eva Trevisson, Ilaria Gabbiato, Giulia Midena, Raffaele Parrozzani
Summary: This study assessed the long-term natural history of choroidal abnormalities (CAs) in pediatric patients with NF1, showing that CAs increase in both number and size over time, independently from the eye's physiological growth.
Review
Audiology & Speech-Language Pathology
Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina
Summary: A novel variant [c.625G>A (p. Val209Met)] in the ACTG1 gene was identified in an adult patient with moderate-severe NSHL characterized by a downsloping audiogram. Different gain-of-function pathogenic variants of ACTG1 are associated with various phenotypes, including DFNA20/26 and Baraitser-Winter syndrome.
AUDIOLOGY RESEARCH
(2021)
Article
Medicine, Research & Experimental
Alessandro Matte, Enrica Federti, Charles Kung, Penelope A. Kosinski, Rohini Narayanaswamy, Roberta Russo, Giorgia Federico, Francesca Carlomagno, Maria Andrea Desbats, Leonardo Salviati, Christophe Leboeuf, Maria Teresa Valenti, Francesco Turrini, Anne Janin, Shaoxia Yu, Elisabetta Beneduce, Sebastien Ronseaux, Iana Iatcenko, Lenny Dang, Tomas Ganz, Chun-Ling Jung, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi
Summary: Enhancement of pyruvate kinase activity by mitapivat showed positive effects on reducing chronic hemolysis and ineffective erythropoiesis in beta-thalassemia, leading to improved red cell metabolism, decreased oxidative stress, and mitigation of liver iron overload. The treatment also resulted in enhanced erythropoiesis and erythroid maturation in ex vivo studies on patients with beta-thalassemia, suggesting potential benefits beyond the erythropoietic compartment. Overall, these findings provide a strong scientific rationale for further clinical trials of pyruvate kinase activation as a therapeutic approach for beta-thalassemia.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)
