Article
Biochemistry & Molecular Biology
Hanan Kamel M. Saad, Alawiyah Awang Abd Rahman, Azly Sumanty Ab Ghani, Wan Rohani Wan Taib, Imilia Ismail, Muhammad Farid Johan, Abdullah Saleh Al-Wajeeh, Hamid Ali Nagi Al-Jamal
Summary: Iron homeostasis is regulated by hepcidin, which is influenced by factors such as iron stores, hypoxia, inflammation, and erythropoiesis. Beta-thalassemia patients exhibit iron deficiency, iron overload, and ineffective erythropoiesis. Recent research has identified new diagnostic markers and therapeutic targets for beta-thalassemia.
Article
Public, Environmental & Occupational Health
Yadong Wang, Yangyang Hu, Xing Zhang, Yue Luo, Luyuan Ma, Jingjing Lu, Qianfei Liang, Chengjun Xu, Caiyan Zhao, Calvin Q. Pan
Summary: This study investigated the relationship between IP-10 and treatment response in patients with CHC treated with direct-acting antiviral agents. The results showed that IP-10 levels decreased gradually during the treatment and baseline IP-10 level and the decline at 12 weeks were independent predictors of SVR.
FRONTIERS IN PUBLIC HEALTH
(2022)
Review
Medicine, General & Internal
Antonis Kattamis, Janet L. Kwiatkowski, Yesim Aydinok
Summary: Thalassaemia is a genetic disorder that affects globin chain synthesis and has a worldwide distribution. The unbalanced production of globin chains leads to ineffective erythropoiesis, increased haemolysis, and disrupted iron homeostasis. The clinical phenotype varies from mild to severe, with treatment options including transfusion, iron chelation, allogeneic haematopoietic stem cell transplantation, and gene therapy.
Article
Virology
Chia-Min Wu, Fu-Hsiung Su, Chih-Hsin Muo, Jou-Chen Huang, Meei-Maan Wu, Chih-Ching Yeh
Summary: This study found that patients with HCV infection treated with PegIFN/RBV therapy had a significantly increased risk of retinopathy, particularly retinal hemorrhage.
Article
Pharmacology & Pharmacy
Ming-Han Hsieh, Tzu-Yu Kao, Ting-Hui Hsieh, Chun-Chi Kao, Cheng-Yuan Peng, Hsueh-Chou Lai, Po-Heng Chuang, Jung-Ta Kao
Summary: SVR lowers the risk of liver histological progression but does not guarantee fibrosis clearance. For SVR cases, those with baseline F >= 2 or without significantly declined follow-up AST levels should be specifically monitored. As for non-SVR cases, those with a higher baseline AST or glucose level should preferentially receive retreatment.
THERAPEUTIC ADVANCES IN CHRONIC DISEASE
(2022)
Article
Virology
Ahmed M. Mostafa, Hesham A. Saafan, Ahmed S. Al-Tawashi, Muhannad H. Kasem, Ahmed M. Alaa, Mahmoud M. Eltobgy, Ahmed S. Moubarak, Manar M. Gharib, Mohamed A. Awwad, Hazem M. Omar, Marwa O. El-Derany
Summary: This study aimed to investigate the association between haplotypes in IL-17A receptor rs2275913 and rs3819024 and development of HCC in CHC patients treated with either triple therapy or with dual therapy. The results showed that the presence of G-G haplotype in IL-17A was inversely associated with HCC development in patients receiving triple therapy. High serum AFP levels were directly associated with HCC development in patients receiving triple therapy.
Review
Medicine, General & Internal
Farrukh Shah, Krystal Huey, Sohan Deshpande, Monica Turner, Madhura Chitnis, Emma Schiller, Aylin Yucel, Luciana Moro Bueno, Esther Natalie Oliva
Summary: This article examines the association between serum ferritin levels and clinical outcomes and patient-reported outcomes in patients with beta-thalassemia through a systematic literature review and data analysis. The results suggest that higher serum ferritin levels are associated with worsened outcomes, particularly an increased risk of endocrine dysfunction.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Virology
Mengqi Luo, Lingyan Zhang, Chou Yang, Bin Zhou, Jinlin Hou, De-Ke Jiang
Summary: This study found that single-nucleotide polymorphism CXCL13_rs76084459 is significantly associated with response to PegIFNa therapy in patients with chronic hepatitis B. Furthermore, a polygenic score composed of 6 SNPs including CXCL13_rs76084459 has a better predictive value for PegIFNa treatment response.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Multidisciplinary Sciences
Carla Casu, Alison Liu, Gianluca De Rosa, Audrey Low, Aae Suzuki, Sayantani Sinha, Yelena Z. Ginzburg, Charles Abrams, Mariam Aghajan, Shuling Guo, Stefano Rivella
Summary: Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm caused by a driver mutation in the JAK2 gene, leading to overproduction of mature erythrocytes and high hematocrit levels. Therapeutic phlebotomy is the standard treatment, but using antisense oligonucleotides against Tmprss6 mRNA to increase hepcidin could provide a less invasive alternative for PV patients.
Review
Biochemistry & Molecular Biology
Coralia Cotoraci, Alina Ciceu, Alciona Sasu, Anca Hermenean
Summary: Anemia is a common health issue affecting people of all ages, with treatment options including blood transfusion and oral iron supplements, which may have side effects and poor absorption. Biologically active compounds and plant extracts show therapeutic potential as alternative treatments for various types of anemia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Ying Liu, Carine Fillebeen, Anik Forest, Amy Botta, Thibault V. Varin, Andre Marette, Yan Burelle, Christine Des Rosiers, Kostas Pantopoulos, Gary Sweeney
Summary: This study using the Th3/+ mouse model found that altered lipid metabolism and gut microbiota may be related to the development of cardiomyopathy in thalassemia. These findings are important for understanding the early biomarkers and therapeutic targets for the development of cardiomyopathy in thalassemia.
Article
Medicine, General & Internal
Reem Aldwaik, Tamara Abu Mohor, Israa Idyabi, Salam Warasna, Shatha Abdeen, Bashar Karmi, Rania Abu Seir
Summary: Management of beta-thalassemia in the West Bank presents challenges due to the lack of available therapies, leading to recurrent transfusions. Characteristics of patients include anemia, iron overload, and abnormal liver function tests. Iron chelation medication choice is associated with serum ferritin levels, highlighting the need for personalized assessment and follow-up protocols.
FRONTIERS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Yu Liu, Hui Chen, Zhi-Ying Xu
Summary: This is a case of a patient who developed ischemic colitis during pegylated interferon-alpha (PEG-IFN-alpha) therapy. The patient presented with acute lower abdominal pain and haematochezia while receiving PEG-IFN-alpha monotherapy for chronic hepatitis B. Diagnosis was confirmed through colonoscopy and biopsies, and treatment involved discontinuation of PEG-IFN-alpha and symptomatic management. The patient recovered and subsequent colonoscopy showed normal findings.
Article
Hematology
Nashwa El-Khazragy, Safa Matbouly, Demiana H. Hanna, Nievin Ahmed Mahran, Sally Abdallah Mostafa, Bassam A. Abdelrehim, Yasmeen K. Farouk, Soha Abuelela
Summary: The study identifies an association between three iron-related miRNAs and tissue iron overload in transfusion-dependent beta-thalassemia major patients. Results suggest that circulating miR-let-7d and miR-200b are downregulated, while miR-122 is upregulated in TDT patients. Aberrant expression of miRNAs is significantly associated with increased iron accumulation in hepatic and cardiac tissues, making them potential predictive biomarkers for tissue iron excess.
ANNALS OF HEMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Davide Schiroli, Lucia Merolle, Eleonora Quartieri, Roberta Chicchi, Tommaso Fasano, Tiziana De Luca, Giuseppe Molinari, Stefano Pulcini, Thelma A. Pertinhez, Erminia Di Bartolomeo, Rino Biguzzi, Roberto Baricchi, Chiara Marraccini
Summary: This study compared two methods for preparing optimal P-RBCs products for beta-thalassemia major patients, finding that method 1 resulted in higher RBC count and Hb content, while method 2 produced P-RBCs with lower levels of K+, iron, and storage lesions markers. Further clinical studies are needed to determine the impact of these differences on transfusion-related complications and the quality of life of beta TM patients.
Meeting Abstract
Endocrinology & Metabolism
John Mitchell, Paul Harmatz, Laila Selim, Iman Gamal El Din, Neslihan Mungan, Fatma Bulut, Christina Lampe, Christina L. Grant, Carlos R. Ferreira, Ratna D. Puri, Sunita Bijarnia-Mahay, Nur Arslan, Norberto Guelbert, Maha S. Zaki, Seema Kapoor, Andreas Hahn, Bo Magnusson, Erik Sundberg, Seza Ozen, Ezgi D. Batu, Maja Di Rocco, Gulden Gokcay, Kathleen Crosby, Alexander Solyom
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Endocrinology & Metabolism
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis Gonzalez Gutierrez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian
Summary: Enzyme replacement therapy with IV idursulfase is effective for somatic symptoms of MPS II. Investigational idursulfase-IT for neuronopathic MPS II shows promise. Long-term data on monthly idursulfase-IT in addition to weekly IV idursulfase suggests benefits for neurocognitive dysfunction in MPS II patients.
MOLECULAR GENETICS AND METABOLISM
(2022)
Review
Pediatrics
Monica Penon-Portmann, David R. Blair, Paul Harmatz
Summary: The mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases caused by enzyme deficiencies, leading to the accumulation of glycosaminoglycans (GAGs) in multiple tissues. Various treatment modalities, including hematopoietic stem cell transplantation, enzymatic replacement, and gene therapy, have been developed to delay disease progression. The effectiveness of these treatments varies across MPS subtypes, and future directions include early diagnosis and improved management for better patient outcomes.
PEDIATRICS AND NEONATOLOGY
(2023)
Article
Endocrinology & Metabolism
Bradley S. S. Miller, Ellen B. B. Fung, Klane K. K. White, Troy C. C. Lund, Paul Harmatz, Paul J. J. Orchard, Chester B. B. Whitley, Lynda E. E. Polgreen
Summary: This study aimed to evaluate the long-term changes in bone and joint disease in patients with mucopolysaccharidosis. The results showed that despite current treatments, patients with mucopolysaccharidosis still suffer from short stature and joint contractures. Therefore, further research and attention to weight management in patients are needed.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Meeting Abstract
Endocrinology & Metabolism
Paul Harmatz, Roberto Giugliani, Ana M. Martins, Takashi Hamazaki, Ryutaro Kira, Toru Kubo, Yuji Sato, Satoshi Kawashima, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Mathias Schmidt
MOLECULAR GENETICS AND METABOLISM
(2023)
Meeting Abstract
Endocrinology & Metabolism
Paul Harmatz, Can H. Ficicioglu, Roberto Giugliani, Deepa Rajan, Joseph Hagood, Michele Fiscella, Lin Yang, Michelle Gilmor, Yoonjin Cho, Dawn Phillips, Paulo Falabella
MOLECULAR GENETICS AND METABOLISM
(2023)
Meeting Abstract
Endocrinology & Metabolism
Joseph Muenzer, Paul Harmatz, Barbara K. Burton, Deepa Rajan, Simon A. Jones, Steven D. Chessler, Natalie Engmann, Adam Scheller, Charlene Chen, Rupa Caprihan, Akhil Bhalla, Tony Hung, Jason Nachtigall, Imanol Zubizarreta, Angela Kay, Simona Costanzo, Jeffrey M. Harris, Yuda Zhu, Peter Chin, Matthew D. Troyer, Carole Ho, Anna I. Bakardjiev
MOLECULAR GENETICS AND METABOLISM
(2023)
Editorial Material
Obstetrics & Gynecology
Jennifer L. Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young, Michael H. Gelb, Hamid Khaledi, Alicia DiBattista, Stacey Smallshaw, Felipe Moretti, Derek Wong, Catherine Lacroix, Dina El Demellawy, Kyle C. Strickland, Jane Lougheed, Anita Moon-Grady, Billie R. Lianoglou, Paul Harmatz, Priya S. Kishnani, Tippi C. MacKenzie
Summary: This study reports on the efficacy of in utero enzyme replacement therapy (ERT) in a patient with CRIM-negative infantile-onset Pompe disease with cardiomyopathy. The results suggest that starting ERT earlier may improve outcomes both prenatally and postnatally, highlighting the need for further research in larger samples.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2023)
Review
Hematology
Hanny Al-Samkari, Ellis J. Neufeld
Summary: Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder that affects a rare percentage of the population. Current standard therapies are not effective for refractory cases, leading to a need for novel therapeutic options. Several agents targeting different aspects of ITP pathophysiology are currently under clinical development, offering potential alternatives for heavily pretreated or refractory ITP patients.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Correction
Endocrinology & Metabolism
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis Gonzalez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian
MOLECULAR GENETICS AND METABOLISM
(2023)
Correction
Endocrinology & Metabolism
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis Gonzalez Gutierrez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Genetics & Heredity
Adriana M. Montano, Agnieszka Rozdzynska-Swiatkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz
Summary: This study examined growth patterns in patients with mucopolysaccharidosis (MPS) VII before enzyme replacement therapy. The results showed that the height Z-scores of MPS VII patients were near normal until 1 year of age but declined thereafter, especially among males. There was no consistent pattern in weight Z-score. BMI Z-scores were above normal among males and slightly below normal among females.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2023)
Article
Medicine, Research & Experimental
Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Summary: This study found that intracerebroventricular administration of tralesinidase alfa can effectively treat Sanfilippo type B and normalize HS and HS-NRE levels in brain tissues. This treatment also reduces hepatomegaly and improves cognitive development in patients.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Review
Genetics & Heredity
Akos Herzeg, Beltran Borges, Billie R. Lianoglou, Juan Gonzalez-Velez, Emma Canepa, Dane Munar, Sarah P. Young, Deeksha Bali, Michel H. Gelb, Pranesh Chakraborty, Priya S. Kishnani, Paul Harmatz, Jennifer L. Cohen, Tippi C. MacKenzie
Summary: Lysosomal storage disorders (LSDs) are a group of monogenic conditions characterized by enzyme deficiency and substrate accumulation in lysosomes. Postnatal enzyme replacement therapy (ERT) is the standard treatment, but has limitations. In utero enzyme replacement therapy (IUERT) offers advantages such as early intervention, access to CNS, and potential immune tolerance, but fetal procedures have challenges and limitations.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link
Summary: Approximately two-thirds of patients with MPS II have neuronopathic disease, while one-third have non-neuronopathic disease. This study compared the clinical manifestations and surgical procedures in patients with neuronopathic or non-neuronopathic MPS II. The findings showed that patients with non-neuronopathic disease have similar somatic manifestations and undergo procedures for complications as often as those with neuronopathic disease in the first two decades of life.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2023)
