Article
Oncology
Jan Styczynski, Artur Slomka, Monika Lecka, Katarzyna Albrecht, Michal Romiszewski, Monika Pogorzala, Malgorzata Kubicka, Beata Kurylo-Rafinska, Barbara Tejza, Grazyna Gadomska, Ewelina Kolanska-Dams, Malgorzata Michalska, Ewa Zekanowska
Summary: This study analyzed the prognostic impact of 12 serum iron metabolism parameters in children after intensive chemotherapy for acute leukemias (AL) or undergoing hematopoietic cell transplantation (HCT). High levels of ferritin and low levels of soluble hemojuvelin (sHJV) were found to have an adverse prognostic impact on overall survival (OS) and event-free survival (EFS) in children after HCT. The results were confirmed when combined with AL patients after intensive chemotherapy.
Article
Biochemistry & Molecular Biology
Betty Berezovsky, Jana Frydlova, Iuliia Gurieva, Daniel W. Rogalsky, Martin Vokurka, Jan Krijt
Summary: The study aimed to investigate the expression of ferroportin protein under various treatments affecting systemic hepcidin. The results showed that the expression of heart ferroportin protein is regulated by both systemic hepcidin and heart non-heme iron content.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Hematology
Michela Asperti, Elisa Brilli, Andrea Denardo, Magdalena Gryzik, Francesca Pagani, Fabiana Busti, Germano Tarantino, Paolo Arosio, Domenico Girelli, Maura Poli
Summary: Iron-refractory iron deficiency anemia (IRIDA) is a genetic disorder caused by mutations on the TMPRSS6 gene, leading to excessive hepcidin production and resistance to oral iron supplementation. In a study using a mouse model, researchers compared different iron status parameters in homozygous and heterozygous mice, finding that Sucrosomial iron may be a promising option for oral iron supplementation in IRIDA patients.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
Article
Nutrition & Dietetics
Suhua Xu, Hao Zheng, Zhaoxie Tang, Zhuohe Gu, Min Wang, Cuilan Tang, Yanqi Xie, Minli Kong, Jiajia Jing, Yanbin Su, Yanna Zhu
Summary: This study evaluated the effect of iron-rich foods (IRFs) on iron status and biomarkers of iron metabolism in late pregnancy. The results showed that IRFs can reduce the risk of iron deficiency and iron-deficiency anemia in late pregnancy. However, the current results are inadequate to confirm the ideal dosage.
JOURNAL OF NUTRITION
(2022)
Article
Nutrition & Dietetics
Brian J. Sandri, Gabriele R. Lubach, Eric F. Lock, Pamela J. Kling, Michael K. Georgieff, Christopher L. Coe, Raghavendra B. Rao
Summary: This study revealed that rapid correction of infantile iron deficiency anemia using iron dextran injections resulted in significant metabolic changes, affecting pathways related to liver function, bile acid release, nucleoside release, and key neurological metabolites.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2021)
Article
Biochemistry & Molecular Biology
Adisak Tantiworawit, Sujaree Khemakapasiddhi, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Pimlak Charoenkwan, Somdet Srichairatanakool, Kanda Fanhchaksai
Summary: The study aimed to evaluate the correlation between serum hepcidin and ferritin levels in thalassemia patients, with results showing no significant correlations among the three groups. The regulation of hepcidin in thalassemia patients is likely to be more affected by erythropoietic activity rather than iron storage.
BIOSCIENCE REPORTS
(2021)
Review
Nutrition & Dietetics
Marcin Delijewski, Aleksandra Barton, Beata Maksym, Natalia Pawlas
Summary: Iron is a crucial transition metal in physiological processes, but it can also be toxic due to its involvement in free radical formation. Impaired iron metabolism leads to iron deficiency, anemia, and iron overload, with different prevalences in transplant patients. Limited knowledge exists on iron metabolism in lung graft recipients and donors, complicated further by the potential impact of drugs. This overview highlights the importance of understanding iron turnover in transplant patients and assessing drug effects on iron metabolism for perioperative treatment in transplantology.
Review
Biochemistry & Molecular Biology
Chie Ogawa, Ken Tsuchiya, Kunimi Maeda
Summary: Hypoxia-inducible factor (HIF) regulates the production of erythropoietin (EPO), the main regulator of erythroid differentiation. HIF2 alpha is the principal regulator of EPO transcription, but HIF1 alpha and 3 alpha also have additional influences on erythroid maturation. HIF also plays a role in iron regulation, ensuring the availability of iron necessary for hematopoiesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Food Science & Technology
Katarzyna Skrypnik, Agnieszka Olejnik-Schmidt, Joanna Mikolajczyk-Stecyna, Marcin Schmidt, Joanna Suliburska
Summary: Supplementation with Lactobacillus plantarum and Lactobacillus curvatus increased serum ferroportin concentration in rats on a high-fat iron-deficient diet, and Lactobacillus curvatus enhanced liver expression of the Tfrc gene.
JOURNAL OF FUNCTIONAL FOODS
(2022)
Article
Biochemistry & Molecular Biology
Edouard Charlebois, Yupeng Li, Victoria Wagner, Kostas Pantopoulos, Martin Olivier
Summary: The survival, growth, and virulence of Leishmania parasites depend on proper access and regulation of iron. Macrophages, Leishmania's host cell, can control iron levels by reducing uptake or increasing efflux via ferroportin. In response, the parasite inhibits ferroportin synthesis and induces its degradation. The role of iron in leishmaniasis was studied using Hjv(-/-) mice, a model of hemochromatosis. These mice showed delayed growth of Leishmania major and increased inflammatory response when infected. However, genetic iron overload did not affect the development of visceral leishmaniasis caused by Leishmania infantum.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Food Science & Technology
Jordi Mayneris-Perxachs, Wellington Amaral, Gabriele R. Lubach, Mark Lyte, Gregory J. Phillips, Joram M. Posma, Christopher L. Coe, Jonathan R. Swann
Summary: Infants worldwide are seriously affected by iron deficiency, but the lingering metabolic and microbial effects after natural recovery have been found in juvenile monkeys, while early treatment with iron dextran and B vitamins can prevent these long-term biochemical derangements.
MOLECULAR NUTRITION & FOOD RESEARCH
(2021)
Article
Immunology
Sandeep R. Kaushik, Sukanya Sahu, Hritusree Guha, Sourav Saha, Ranjit Das, Rukuwe-u Kupa, Wetetsho Kapfo, Trinayan Deka, Rumi Basumatary, Asunu Thong, Arunabha Dasgupta, Bidhan Goswami, Amit Kumar Pandey, Lahari Saikia, Vinotsole Khamo, Anjan Das, Ranjan Kumar Nanda
Summary: This study monitored the levels of cytokines, trace metals, and iron-related proteins in tuberculosis (TB) patients and control populations. The results showed that TB patients had low iron and selenium levels, high copper and aluminum levels, and altered iron metabolism. After 6 months of anti-TB therapy, the iron metabolism partially normalized. These findings are important for the development of host-directed adjunct therapeutics.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Gastroenterology & Hepatology
Yohannes Seyoum, Kaleab Baye, Christele Humblot
Summary: Iron deficiency is a common nutritional issue affecting 1.4 billion people worldwide. The usual approach to combating it, iron fortification, can have undesired side effects and may not always be effective. This review aims to explore the complex relationship between iron and gut microbiota, potentially offering more efficient ways to address anemia caused by iron deficiency.
Review
Biology
Marc-Tudor Damian, Romana Vulturar, Cristian Cezar Login, Laura Damian, Adina Chis, Anca Bojan
Summary: The pathogenesis of anemia in athletes is multifactorial, involving factors such as hemodilution, iron deficiency, genetic determinants, and celiac disease. Improving iron bioavailability and assessing iron status are crucial for preventing and treating anemia in athletes.
Article
Nutrition & Dietetics
Eva Greibe, Ebba Nexo
Summary: This study developed an assay for measuring human gastric intrinsic factor (IF) and demonstrated its presence in human serum. The assay showed sensitivity and accuracy in measuring IF concentration, making it potentially useful in studying patients with impaired IF production.
Article
Pediatrics
L. Abily-Donval, L. Dupic, C. Joffre, A. Brassier, J. B. Arnoux, M. Grimaud, F. Lesage, L. de Saint Blanquat, S. Bekri, S. Marret, C. Pontoizeau, S. Renolleau, C. Ottolenghi, P. de Lonlay, M. Oualha
ARCHIVES DE PEDIATRIE
(2020)
Review
Urology & Nephrology
Aude Servais, Kay Thomas, Luca Dello Strologo, John A. Sayer, Soumeya Bekri, Aurelia Bertholet-Thomas, Matthew Bultitude, Giovanna Capolongo, Rimante Cerkauskiene, Michel Daudon, Steeve Doizi, Valentine Gillion, Silvia Gracia-Garcia, Jan Halbritter, Laurence Heidet, Marleen van den Heijkant, Sandrine Lemoine, Bertrand Knebelmann, Francesco Emma, Elena Levtchenko
Summary: Cystinuria is a genetic disorder characterized by high urinary cystine excretion leading to stone formation. Clinical practice recommendations for diagnosis, treatment, and follow-up were developed from June 2018 to December 2019. The guidance covers various aspects of management for both adults and children with cystinuria.
KIDNEY INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Benedicte Sudrie-Arnaud, Sarah Snanoudj, Ivana Dabaj, Helene Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Benedicte Heron, Isabelle Marie, Marc Duval-Arnould, Stephane Marret, Abdellah Tebani, Soumeya Bekri
Summary: Diagnosis of lysosomal disorders can be challenging due to their clinical heterogeneity and overlapping phenotypes. A newly developed capture-based NGS panel allows for efficient detection of genetic variations associated with LDs, potentially improving diagnostic speed and accuracy. This advanced sequencing approach, combined with bioinformatics analyses, offers a cost-effective method for identifying causative variants in lysosomal disorders.
Article
Biology
Ivana Dabaj, Benedicte Sudrie-Arnaud, Francois Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stephane Marret, Gael Nicolas, Abdellah Tebani, Soumeya Bekri
Summary: NGLY1 deficiency is an autosomal recessive disorder characterized by developmental delay, acquired microcephaly, hypotonia and other clinical features. Diagnosis is often made through genetic testing and biochemical analysis.
Review
Health Care Sciences & Services
Vianney Gilard, Abdellah Tebani, Ivana Dabaj, Annie Laquerriere, Maxime Fontanilles, Stephane Derrey, Stephane Marret, Soumeya Bekri
Summary: Glioblastoma is the most common malignant brain tumor in adults, with current treatment options including surgery, radiotherapy, and chemotherapy. Despite advances in understanding the pathophysiology, challenges such as high relapse rates and short survival periods persist. Research in recent years has led to significant insights and new therapeutic approaches for glioblastoma.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, General & Internal
Nassim Boutouchent, Julie Bourilhon, Benedicte Sudrie-Arnaud, Antoine Bonnevalle, Lucie Guyant-Marechal, Cecile Acquaviva, Lorena Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani
Summary: HMGLD is a genetic disorder caused by mutations in the HMGCL gene, characterized by severe metabolic intoxication including hypoglycemia, metabolic acidosis, hyper-ammoniemia, hepatomegaly, and coma. Treatment involves a protein- and fat-restricted diet, with L-carnitine supplementation recommended. Late-onset cases are rare, with only a few reported in adult patients.
Article
Health Care Sciences & Services
Franklin Ducatez, Wladimir Mauhin, Agnes Boullier, Carine Pilon, Tony Pereira, Raphael Aubert, Olivier Benveniste, Stephane Marret, Olivier Lidove, Soumeya Bekri, Abdellah Tebani
Summary: Fabry disease is an X-linked lysosomal disorder with complex genetics and organ damage. Metabolomics can identify distinct metabolic patterns, reveal disease characteristics, and establish predictive models, contributing to a deeper understanding of the disease mechanisms.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Sarah Snanoudj, Stephanie Torre, Benedicte Sudrie-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S. Salomons, Stephane Marret, Soumeya Bekri, Abdellah Tebani
Summary: Malonic aciduria is a rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase. Clinical manifestations include neurological and digestive symptoms, metabolic acidosis, hypoglycemia, failure to thrive, seizures, developmental delay, and cardiomyopathy. There is significant variability in clinical presentation among affected individuals, even within the same family.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Benedicte Sudrie-Arnaud, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, Abdellah Tebani
Summary: Congenital erythropoietic porphyria is a rare genetic disorder caused by a deficiency in a specific enzyme, leading to symptoms typically presenting during the prenatal or neonatal period, with non-immune hydrops fetalis being a common clinical manifestation.
Article
Oncology
Vianney Gilard, Justine Ferey, Florent Marguet, Maxime Fontanilles, Franklin Ducatez, Carine Pilon, Celine Lesueur, Tony Pereira, Carole Basset, Isabelle Schmitz-Afonso, Frederic Di Fiore, Annie Laquerriere, Carlos Afonso, Stephane Derrey, Stephane Marret, Soumeya Bekri, Abdellah Tebani
Summary: This study investigates metabolic remodeling in patients with glioblastoma using targeted and untargeted metabolomics, identifying phospholipids, sphingomyelins, acylcarnitines, and acylglycerols as key impaired metabolic classes. The findings show deep metabolic rewiring in glioblastoma, highlighting the significant role of lipids in tumor progression.
Review
Health Care Sciences & Services
Vianney Gilard, Stephane Derrey, Stephane Marret, Soumeya Bekri, Abdellah Tebani
Summary: Neurosurgeons have always defined themselves as physicians with a surgical practice, and they are now striving to effectively embrace the era of data-driven medicine in the ongoing precision medicine surge that drives patient-centric healthcare. The convergence between surgery and precision medicine is best illustrated in neuro-oncology, paving the way for new medical perspectives. Prominent advances in healthcare and big data challenge the medical community to deeply rethink current and future medical practice.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, General & Internal
Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Esther Noel, Agathe Masseau, Didier Lacombe, Helene Maillard, Soumeya Bekri, Olivier Lidove, Olivier Benveniste
Summary: The study found that there are differences in S1P levels between the classic and non-classic phenotypes of Fabry disease. Non-classic phenotype patients have higher S1P levels, while classic phenotype patients have higher lysoGb3 concentrations. S1P levels are correlated with interventricular septum thickness, but age is the key factor influencing the risk of HCM.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Medicine, General & Internal
Ivana Dabaj, Adnan Hassani, Lydie Burglen, Leila Qebibo, Anne-Marie Guerrot, Stephane Marret, Abdellah Tebani, Soumeya Bekri
Summary: Pontocerebellar hypoplasia (PCH) is a neurodegenerative disorder that leads to severe neurodevelopmental disabilities. This study reports a case of PCH1D in an infant with two variants in the EXOSC9 gene and highlights the crucial role of the exosome in cellular homeostasis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Stephen J. J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, Francois Lecoquierre, Soumeya Bekri, Michael S. S. Kilberg
Summary: Asparagine Synthetase Deficiency (ASNSD) is caused by mutations in the ASNS gene and leads to microcephaly, seizures, brain atrophy, and developmental delays. A 9-year-old child with ASNSD was found to have compound heterozygous mutations and reduced proliferation in cells lacking asparagine. Enzymatic activity and protein expression studies in ASNS-null cells further elucidate the biological impact of ASNS mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medical Laboratory Technology
Abdellah Tebani, Frederic Barbey, Olivier Dormond, Franklin Ducatez, Stephane Marret, Albina Nowak, Soumeya Bekri
Summary: Fabry disease is an X-linked lysosomal rare disease caused by a deficiency of α-galactosidase A activity. The accumulation of glycosphingolipids affects the kidney, heart, and central nervous system, reducing life expectancy. A deep plasma proteomic profiling identified proteomic profiles that could distinguish FD patients from controls, highlighting the involvement of pro-inflammatory cytokines and extracellular matrix remodeling in FD pathogenesis. These findings will contribute to better understanding of the molecular mechanisms in FD and future diagnostic and therapeutic advancements.
TRANSLATIONAL RESEARCH
(2023)