Article
Gastroenterology & Hepatology
Kris Kowdley, Nishit B. Modi, Kevork Peltekian, John M. Vierling, Christopher Ferris, Frank H. Valone, Suneel Gupta
Summary: This study investigated the efficacy and safety of rusfertide in patients with HFE-related haemochromatosis. The results showed that rusfertide treatment significantly reduced the frequency of phlebotomies and allowed most patients to be phlebotomy-free during the treatment period. Furthermore, rusfertide effectively decreased serum iron and liver iron concentration, suggesting its potential therapeutic role.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2023)
Article
Hematology
Paola Corti, Giulia Maria Ferrari, Martha Caterina Faraguna, Giulia Capitoli, Filomena Longo, Elena Corradini, Tommaso Casini, Gianluca Boscarol, Valeria Maria Pinto, Roberta Ghilardi, Giovanna Russo, Raffaella Colombatti, Raffaella Mariani, Alberto Piperno
Summary: HC in pediatric population is often asymptomatic and non-HFE types are more common. Early diagnosis and treatment are crucial, especially for severe forms like HJV-HC.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Medical Laboratory Technology
J. A. Hubacek, T. Philipp, V. Adamkova, O. Majek, L. Dusek
Summary: This study found that genetic mutations associated with hereditary haemochromatosis are related to susceptibility to COVID-19. The minor allele of the rs1800562 polymorphism (Tyr282) was found to have a higher frequency in COVID-19 patients, which is associated with increased iron concentrations.
CLINICA CHIMICA ACTA
(2023)
Article
Dentistry, Oral Surgery & Medicine
Pingping Han, Tianqing Liu, Cedryck Vaquette, David Frazer, Gregory Anderson, Saso Ivanovski
Summary: The study reveals that Hfe gene mutation leads to excessive iron deposition in periodontal tissues, significant periodontal bone loss, alterations in bone development and turnover, as well as increased levels of pro-inflammatory cytokine interleukin 6 and periodontal bacteria Campylobacter rectus in Hfe(-/-) mice.
JOURNAL OF PERIODONTAL RESEARCH
(2022)
Review
Gastroenterology & Hepatology
Aline Morgan Alvarenga, Pierre Brissot, Paulo Caleb Junior Lima Santos
Summary: This review provides updated information on the classification, pathophysiology, and therapeutic recommendations for haemochromatosis.
WORLD JOURNAL OF HEPATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. H. Griffiths, Michael Way, Thomas W. M. Buckley, John D. Ryan, Stephen Stewart, Callum Wright, Paola Dongiovanni, Anna Fracanzani, Jochen Zwerina, Uta Merle, Karl Heinz Weiss, Elmar Aigner, Elisabeth Krones, Christian Dejaco, Janett Fischer, Thomas Berg, Luca Valenti, Heinz Zoller, Andrew McQuillin, Jochen Hampe, Felix Stickel, Marsha Y. Morgan
Summary: This study found significant associations between the PCSK7:rs236918, PNPLA3:rs738409, and TM6SF2:rs58542926 variants and cirrhosis risk in C282Y homozygotes. These associations remained significant in the subpopulation with available liver histology. The population-attributable fractions for carriage of all three variants combined was 24.0%.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Medicine, General & Internal
Roshini Kurian, Preethu Anand, George Ghaly
Summary: We report a case study of a 78-year-old male with a complex presentation that initially diverted our attention from underlying hereditary haemochromatosis (HH). The patient initially presented with pyomyositis in the thigh muscles, followed by a diagnosis of myelodysplasia-refractory anaemia with excess blasts (RAEB), congestive cardiac failure, and liver abscesses. End-stage heart failure and recurrent infections were the main causes of death for the patient, highlighting the importance of early detection and reduction of iron overload in HH.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Engineering, Chemical
Zhongji Qu, Yu Wang, Wei Wang, Dan Yu
Summary: The successful loading of FeCoNiOx onto PDA-rGO through a two-step process provides a simple and scalable method for developing an efficient microwave absorber. The material shows excellent electromagnetic wave absorbing performance, with the potential for different absorption effects by adjusting component ratios.
ADVANCED POWDER TECHNOLOGY
(2021)
Article
Pharmacology & Pharmacy
V. V. S. S. Sagar, Maharshi Patel, Pallavi Yelne, Shilpa Gaidhane, Chitturi Venkata Sai Akhil
Summary: Hemochromatosis is the abnormal accumulation of iron in various organs of the body due to increased gut absorption of iron and low hepcidin yield. Cardiac hemochromatosis is identified as the presence of cardiac dysfunction caused by increased iron accumulation in the heart leading to heart failure, which is secondary to thalassemia major. Regular monitoring of serum iron, ferritin, and echocardiography is essential for thalassemia major patients to prevent and treat heart failure caused by iron overload. Early diagnosis and intervention are crucial in preventing and treating cardiac involvement in secondary hemochromatosis due to thalassemia major.
JOURNAL OF PHARMACEUTICAL RESEARCH INTERNATIONAL
(2021)
Article
Clinical Neurology
Timothy L. Beard, Cathy Michalsky, Keith A. Candiotti, Paul Rider, Linda Wase, Ashraf S. Habib, Mark A. Demitrack, Michael J. Fossler, Eugene R. Viscusi
Summary: The study revealed that oliceridine demonstrated better gastrointestinal tolerability compared to morphine postoperatively, especially when adjusted for analgesic effects, with a higher proportion of patients achieving complete gastrointestinal response with oliceridine.
Article
Cardiac & Cardiovascular Systems
Michal Tkaczyszyn, Marat Fudim, Piotr Ponikowski, Jan Biegus
Summary: Iron deficiency is a common complication of heart failure, but its pathophysiology and treatment still need further investigation. Intravenous iron therapy, specifically ferric carboxymaltose, can improve the quality of life and symptoms in heart failure patients with iron deficiency. However, there are still clinical questions surrounding the use of intravenous iron in this population.
CURRENT HEART FAILURE REPORTS
(2023)
Review
Biochemistry & Molecular Biology
Sheridan L. Helman, Jie Zhou, Brie K. Fuqua, Yan Lu, James F. Collins, Huijun Chen, Christopher D. Vulpe, Gregory J. Anderson, David M. Frazer
Summary: The mammalian multicopper ferroxidases (MCFs), including ceruloplasmin, hephaestin, and zyklopen, play crucial roles in maintaining iron homeostasis in the body. They function in oxidizing, releasing, and absorbing iron ions, and have various physiological functions in different tissues. Apart from their iron-related roles, they also have other physiological functions, although many of them are not well-defined.
Article
Gastroenterology & Hepatology
Phillip E. E. Melton, M. A. Burton, K. A. Lillycrop, K. M. Godfrey, S. Rauschert, D. Anderson, G. C. Burdge, T. A. Mori, L. J. Beilin, O. T. Ayonrinde, J. M. Craig, J. K. Olynyk, J. D. Holbrook, C. E. Pennell, W. H. Oddy, E. K. Moses, L. A. Adams, R. C. Huang
Summary: Through DNA methylation epigenome-wide association study, we identified novel DNA methylation loci associated with NAFLD and serum liver biochemistry markers during adolescence, implicating putative dmCpG/gene regulatory pathways and providing insights for future mechanistic studies.
HEPATOLOGY INTERNATIONAL
(2023)
Article
Respiratory System
Carla Colombo, Grant A. Ramm, Anders Lindblad, Fabiola Corti, Luigi Porcaro, Federico Alghisi, Irina Asherova, Helen Evans, Nataliya Kashirskaya, Elena Kondratyeva, Peter J. Lewindon, Isabelle de Monestrol, Mark Oliver, Chee Y. Ooi, Rita Padoan, Sahana Shankar, Gianfranco Alicandro
Summary: Cystic-fibrosis-related liver disease (CFLD) is a variable phenotype of CF. CFTR modulator therapies, elexacaftor, tezacaftor, and ivacaftor (ETI), and ivacaftor (IVA), are available for CF patients. Genetic eligibility evaluation showed that 13% of patients without CFLD and 11% of patients with severe CFLD are not eligible for ETI or IVA therapy. Ineligible patients cannot benefit from these new treatments.
JOURNAL OF CYSTIC FIBROSIS
(2023)
Editorial Material
Gastroenterology & Hepatology
Darrell H. G. Crawford, Grant A. Ramm, Kim R. Bridle, Amanda J. Nicoll, Martin B. Delatycki, John K. Olynyk
HEPATOLOGY INTERNATIONAL
(2023)
Letter
Medicine, General & Internal
Daniel Clayton-Chubb, Andrew Buckle, Tissa Tandiari, Patrick Hosking, Amanda J. Nicoll
INTERNAL MEDICINE JOURNAL
(2023)
Article
Gastroenterology & Hepatology
Shruti Sakhuja, Heather M. Staples, Charles G. Minard, Louise E. Ramm, Peter J. Lewindon, Grant A. Ramm, Daniel H. Leung
Summary: This study aimed to evaluate the clinical utility of lung function and liver biomarkers assessed years prior to liver biopsy-proven CFLD in predicting the risk of severe fibrosis development. The findings suggest that mild-moderate pulmonary dysfunction and higher liver biomarker indices at baseline may be associated with faster progression of CFLD.
LIVER INTERNATIONAL
(2023)
Article
Hematology
Surendra Karki, Katy J. L. Bell, Andrew Hayen, Bette Liu, Anne E. E. Cust, John K. K. Olynyk, David O. O. Irving
Summary: Through a study on blood donors and adjusting for potential confounders, it was found that regular and high-frequency blood donation does not significantly reduce the risk of cardiovascular diseases.
Article
Multidisciplinary Sciences
John K. Olynyk, Richard Grainger, Helen Currie, Louise E. Ramm, Grant A. Ramm
Summary: HLA-A3 and HLA-B7 alleles are not associated with the risk of advanced hepatic fibrosis or cirrhosis in C282Y hemochromatosis, according to a study involving 133 individuals with HFEC282Y homozygous. HLA typing and liver biopsies were conducted to determine the severity of fibrosis.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
N. Dianah B. Abu Bakar, Rodrigo Carlessi, Jully Gogoi-Tiwari, Julia Kohn-Gaone, Vincent Williams, Marco Falasca, John K. Olynyk, Grant A. Ramm, Janina E. E. Tirnitz-Parker
Summary: The TWEAK/Fn14 signalling pathway plays a crucial role in tissue injury and regeneration, and its involvement in pancreatic injury and cancer is not well understood. This study demonstrates that TWEAK/Fn14 signalling is important in the establishment and progression of chronic pancreatitis, increasing the risk of pancreatic cancer. The findings suggest the TWEAK/Fn14 pathway as a potential therapeutic target.
Article
Hematology
Lucy Z. Kornblith, Bindhya Sadhanandhan, Sreepriya Arun, Rebecca Long, Alicia J. Johnson, Jamie Noll, C. N. Ramchand, John K. Olynyk, David H. Farrell
Summary: COVID-19 is associated with a strong inflammatory response leading to organ failure, thrombosis, and death. A study investigated a novel inflammatory biomarker, GPF, in 103 hospitalized patients with COVID-19 and 19 healthy controls. The findings showed that GPF levels were significantly associated with the severity of COVID-19, and it may be a useful marker for evaluating the respiratory disease severity.
BLOOD CELLS MOLECULES AND DISEASES
(2023)
Article
Oncology
Sabrina Wang, Farhana Sultana, Anne Kavanagh, Carolyn Nickson, Amalia Karahalios, Lyle C. Gurrin, Dallas R. English
Summary: This study aimed to quantify the impact of mammographic screening on breast cancer mortality and overdiagnosis. The results showed that women who participate in Australia's national screening program have lower breast cancer mortality, but some screen-detected cancers may be overdiagnosed.
Review
Oncology
Elena S. George, Surbhi Sood, Nicole Kiss, Robin M. Daly, Amanda J. Nicoll, Stuart K. Roberts, Brenton J. Baguley
Summary: Emerging evidence suggests a link between NAFLD, cancer development, and mortality. Cancer treatment-induced metabolic and hepatic dysfunction may contribute to NAFLD development. This review investigates the prevalence, effects of cancer treatments, metabolic comorbidities, and mortality associated with NAFLD in adults with cancer.
Article
Cell Biology
Rodrigo Carlessi, Elena Denisenko, Ebru Boslem, Julia Kohn-Gaone, Nathan Main, N. Dianah B. Abu Bakar, Gayatri D. Shirolkar, Matthew Jones, Aaron B. Beasley, Daniel Poppe, Benjamin J. Dwyer, Connie Jackaman, M. Christian Tijam, Ryan Lister, Michael Karin, Jonathan A. Fallowfield, Timothy J. Kendall, Stuart J. Forbes, Elin S. Gray, John K. Olynyk, George Yeoh, Alistair R. R. Forrest, Grant A. Ramm, Mark A. Febbraio, Janina E. E. Tirnitz-Parker
Summary: By using single-nucleus RNA sequencing, researchers identified a disease-associated hepatocyte transcriptional state that is increasingly prevalent in chronic liver disease and associated with structural variants. Integrated analysis of human data confirmed this finding and revealed a correlation between high levels of this hepatocyte transcriptional state and an increased risk of hepatocellular carcinoma development.
