Article
Multidisciplinary Sciences
Sneha Shah, Kevin J. Sharp, Sithara Raju Ponny, Jonathan Lee, Jonathan K. Watts, Elizabeth Berry- Kravis, Joel D. Richter
Summary: Aberrant alternative splicing of mRNAs leads to dysregulated gene expression in neurological disorders, such as fragile X syndrome (FXS). In this study, the researchers found hundreds of incorrectly expressed and spliced mRNAs in the blood and brain tissues of FXS individuals. They also discovered a previously unknown RNA isoform, FMR1-217, which is generated through mis-splicing of the FMR1 gene in FXS tissues. Treatment with antisense oligonucleotides (ASOs) could reduce FMR1-217 and restore normal gene expression and protein levels. These findings suggest that RNA-processing events in blood could serve as biomarkers for FXS and ASO treatment may be a potential therapy.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Hematology
Dan Lu, Xiuli Gong, Yudan Fang, Xinbing Guo, Yanwen Chen, Fan Yang, Guijun Zhao, Qingwen Ma, Yitao Zeng, Fanyi Zeng
Summary: This study successfully improved the clinical symptoms of beta(654) mice with beta-thalassemia using a CRISPR/Cas9 genome editing approach and increased the survival rate. It provides a new approach for the future treatment of beta(654)-thalassemia.
Review
Pharmacology & Pharmacy
Luka A. Clarke, Margarida D. Amaral
Summary: RNA-based approaches for treating monogenic diseases include the use of small antisense oligonucleotides and mRNA administration. However, further optimization is needed for these methods.
Article
Biochemistry & Molecular Biology
Sima Alkilani, Tuba Sevimoglu
Summary: In this study, molecular dynamics simulation was used to examine the effects of alanine substitution mutations in the beta-globin protein sub-units on their structure and performance. It was found that the Hb Ankara variant showed a non-conservative mutation, while the Hb Siirt and Hb Izmir variants showed semi-conservative mutations. Hb Siirt substitution mutation may have an effect on the protein function, while Hb Ankara and Hb Izmir variants may act as silent mutations.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Multidisciplinary Sciences
Josep Biayna, Helena Mazuelas, Bernat Gel, Ernest Terribas, Gabrijela Dumbovic, Inma Rosas, Juana Fernandez-Rodriguez, Ignacio Blanco, Elisabeth Castellanos, Meritxell Carrio, Conxi Lazaro, Eduard Serra
Summary: Neurofibromatosis Type 1 (NF1) is a genetic condition with cognitive impairment possibly related to alternative splicing of the NF1 gene. Modulation of the ratio between type I and type II isoforms can disrupt neuronal differentiation and deregulate signaling pathways. The study suggests a feedback loop involving neurofibromin-related signaling pathways.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Natalia Bartys, Anna Pasternak, Jolanta Lisowiec-Wachnicka
Summary: This article presents detailed research on the optimization of bifunctional antisense oligonucleotides (BASOs) for modulating alternative splicing. The authors demonstrate the effectiveness of BASOs in regulating mutually exclusive alternative splicing of the PKM gene.
Review
Clinical Neurology
Jean-Baptiste Brunet De Courssou, Alexandra Durr, David Adams, Jean-Christophe Corvol, Louise-Laure Mariani
Summary: Advances in targeted regulation of gene expression have opened up new therapeutic approaches for monogenic neurological diseases, with antisense therapies relying on modified nucleotide sequences showing promise in treating severe and previously untreatable disorders. Despite the success seen in various neurological disorders, there remain many unknowns and challenges to expanding these treatments to other diseases. Further research and development is needed to fully realize the potential of personalized medicine targeting the pathogenic roots of these conditions.
Article
Genetics & Heredity
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Summary: This study reports a case of thalassemia in a 32-year-old male patient, in which a novel gene deletion was identified using multiple detection methods. The results demonstrate the promising potential of TGS technology in thalassemia breakpoint detection and screening for novel gene deletions.
FRONTIERS IN GENETICS
(2022)
Article
Medical Laboratory Technology
Xu Chen, Mingyue Luo, Lei Pan, Yuting Huang, Zehao Yan, Kai Shen, Guangxing Mai, Hui Liang, Jiaqi Li, Yiwei Chen, Likuan Xiong
Summary: Thalassemia is a common inherited haemoglobin disorder. This study utilized various genetic methods to screen a patient for thalassemia and discovered a novel gene deletion using third-generation sequencing. The results highlight the potential of third-generation sequencing in identifying new genotypes of thalassemia.
CLINICA CHIMICA ACTA
(2022)
Article
Genetics & Heredity
Matteo Zurlo, Jessica Gasparello, Lucia Carmela Cosenza, Giulia Breveglieri, Chiara Papi, Cristina Zuccato, Roberto Gambari, Alessia Finotti
Summary: The objective of this study was to develop an experimental model system for studying the reduction of toxic alpha-globin aggregates in beta-thalassemia. K562 cellular clones were produced that stably produced high levels of alpha-globin protein and showed increased apoptosis and autophagy. This model system can be used to screen pharmacological agents that activate autophagy and reduce alpha-globin accumulation, as well as for new therapeutic approaches targeting the reduction of alpha-globin gene expression.
Review
Medicine, General & Internal
Maria Sanchez-Villalobos, Miguel Blanquer, Jose M. Moraleda, Eduardo J. Salido, Ana B. Perez-Oliva
Summary: In this article, the main pathophysiological pathways involved in beta-thalassemia are reviewed, with a focus on the development of new therapies directed at new therapeutic targets.
FRONTIERS IN MEDICINE
(2022)
Article
Hematology
Alisa Dong, Valentina Ghiaccio, Irene Motta, Shuling Guo, Raechel Peralta, Susan M. Freier, Andy Watt, Sagar Damle, Yasuhiro Ikawa, Danuta Jarocha, Maxwell Chappell, Coralea Stephanou, Paola Delbini, Connie Chen, Soteroula Christou, Marina Kleanthous, Kim Smith-Whitley, Deepa Manwani, Carla Casu, Osheiza Abdulmalik, Maria Domenica Cappellini, Stefano Rivella, Laura Breda
Summary: Beta-thalassemia is a global disorder that requires alternative treatment strategies due to limited options currently available. Aberrant splicing is one of the processes that affects beta-globin synthesis in patients with beta-thalassemia.
Review
Chemistry, Medicinal
Rayan Bou-Fakhredin, Lucia De Franceschi, Irene Motta, Maria Domenica Cappellini, Ali T. Taher
Summary: Better understanding of gamma-globin regulation has led to advancements in pharmacologic agents for HbF induction and identification of novel HbF-inducing strategies.
Review
Endocrinology & Metabolism
Ainhoa Martinez-Pizarro, Lourdes R. Desviat
Summary: RNA-based therapies are a new class of drugs that have gained significant interest due to the clinical efficacy of approved oligonucleotide drugs and the success of COVID-19 RNA vaccines. These drugs are easy to design, cost-effective, and have improved pharmacokinetic properties. There are currently over a dozen RNA-based drugs approved for clinical use, including those for specific inborn errors of metabolism, with many others in development. The development of n-of-1 RNA drugs offers hope for patients with rare diseases and/or ultra-rare mutations.
MOLECULAR GENETICS AND METABOLISM
(2022)
Review
Medicine, General & Internal
Tang-Her Jaing, Tsung-Yen Chang, Shih-Hsiang Chen, Chen-Wei Lin, Yu-Chuan Wen, Chia-Chi Chiu
Summary: Beta-thalassemia is a hereditary hematological disease caused by mutations in the beta-globin gene. Genetic studies have provided insights into disease severity prediction and management, with gene therapy representing a promising novel therapeutic approach. The expanding genome editing toolkit offers increased accuracy for personalized treatment strategies.
Article
Hematology
Heba H. Abou-Elew, Ilham Youssry, Shireen Hefny, Rania H. Hashem, Nevine Fouad, Rania A. Zayed
Article
Multidisciplinary Sciences
Lobna Y. Ghanem, Iman M. Mansour, Nelly Abulata, Maha M. Akl, Zeinab A. Demerdash, Hanan G. El Baz, Soheir S. Mahmoud, Salwa H. Mohamed, Faten S. Mahmoud, Ayat S. M. Hassan
SCIENTIFIC REPORTS
(2019)
Article
Medicine, General & Internal
Mona S. Abdel Monem, Samar F. Farid, Maggie M. Abbassi, Ilham Youssry, Nevine G. Andraues, Mohamed Hassany, Yasmeen M. M. Selim, Manal H. El-Sayed
Summary: The study found that the use of metformin can significantly improve the oxidative stress status in HCV-infected beta-thalassemia major adolescent patients, leading to improved liver fibrosis grade. However, the improvement in aspartate aminotransferase levels was not clinically significant.
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE
(2021)
Article
Urology & Nephrology
Ilham Youssry, Samuel Makar, Khalil Abdelkhalek, Dina Hisham, Happy Sawires
Summary: Renal tubular dysfunction has been reported in patients with transfusion-dependent thalassemia (TDT), with varying severity. Among the three commonly used urinary biomarkers, NGAL/Cr, NAG/Cr, and RBP/Cr, UrNGAL/Cr was found to be more accurate in the early detection of tubular dysfunction in TDT patients.
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2022)
Article
Education & Educational Research
Nourhan F. Wasfy, Enjy Abouzeid, Asmaa Abdel Nasser, Samar A. Ahmed, Ilham Youssry, Nagwa N. Hegazy, Mohamed Hany K. Shehata, Doaa Kamal, Hani Atwa
Summary: This study aimed to develop descriptive standards for best practices in online learning in medical education. Through a multi-stage approach, standards areas such as organizational capacity, educational effectiveness, and human resources were identified, with corresponding development of standards, indicators, and checklists for each area.
BMC MEDICAL EDUCATION
(2021)
Article
Integrative & Complementary Medicine
Adel M. Abuzenadah, Fatin Al-Sayes, Syed Sahajada Mahafujul Alam, Mehboob Hoque, Sajjad Karim, Ibtessam M. R. Hussain, Shams Tabrez
Summary: Angiogenesis is crucial for tumor development, and targeting VEGFR-2 signaling is a promising strategy for cancer treatment. This study identified bioactive compounds from Rauwolfia serpentina that effectively bind with VEGFR-2. Molecular docking results showed strong interactions between these compounds and VEGFR-2, and they possess favorable drug-like properties without significant toxicity. These findings suggest the potential of these compounds for antiangiogenic drug development.
EVIDENCE-BASED COMPLEMENTARY AND ALTERNATIVE MEDICINE
(2022)
Article
Oncology
Ilham Youssry, Nahla Saad, Mohamed Madboly, Rania M. Samy, Soha T. Hamed, Hanaa Tawfik, Salwa R. Elbatrawy, Normeen Kaddah, Dalia Abd Elaziz
Summary: This study aimed to investigate bone mineral density in pediatric beta-thalassemia patients, revealing lower OPG levels and OPG/RANKL ratios in patients, as well as more frequent occurrence of certain genotypes.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Education, Scientific Disciplines
Nagwa N. Hegazy, Noha M. Elrafie, Nermine Saleh, Ilham Youssry, Samar A. Ahmed, Mostafa Yosef, Marwa M. Ahmed, Nagwan Rashwan, Hany W. Abdel Malak, Samia A. Girgis, Gehane M. Hamed, Howeida Hassan Abusalih
Summary: This study utilized a qualitative inductive approach to explore the online assessment conceptual framework in the COVID-19 era, focusing on feasibility, exam fairness/equity, and acceptable graduate attributes, society/community acceptance as the main thematic areas.
ADVANCES IN MEDICAL EDUCATION AND PRACTICE
(2021)
Article
Pediatrics
Sajjad Karim, Ibtessam Ramzi Hussein, Hans-Juergen Schulten, Saad Alsaedi, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary
Summary: This study aimed to investigate the genetic heterogeneity in Saudi children with developmental delay (DD), congenital malformations (CM), and intellectual disability (ID). High-resolution array comparative genomic hybridization (array CGH) was used to detect disease-associated copy number variations (CNVs). The diagnosis rate of array CGH was around two-fold higher than that of standard karyotyping.
Review
Hematology
Ilham Youssry, Nardeen Ayad
Summary: This article reviews the latest advances in the treatment of sickle cell disease, including FDA-approved therapies and the application of CRISPR/Cas9 technology in gene-edited hematopoietic stem cells. While current therapies cannot be considered a single curative line, autologous transplant of gene-edited hematopoietic stem cells holds potential as a cure for SCD patients.
ANNALS OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Dalia El-Sayed, Hanaa El-Karaksy, Yasser Wali, Ilham Youssry
Summary: We report a male patient in middle childhood who presented with hepatosplenomegaly, lymphadenopathy, and bicytopenia. Whole exome sequencing confirmed a homozygous missense variant of uncertain significance in the HMGCS2 gene.
Review
Hematology
Ilham Youssry, Dalia Abd Elaziz, Nardeen Ayad, Iman Eyada
Summary: COVID-19 infection can cause hematological changes, most of which are non-specific but have prognostic value. Patients with certain hematological diseases and those receiving aggressive immunosuppressive therapy are more susceptible to COVID-19, while most patients with other chronic hematological conditions do not have a significantly higher risk of infection compared to the general population.
HEMATOLOGY REPORTS
(2022)
Article
Public, Environmental & Occupational Health
Nermeen Eldesoukey, Taghrid Gaafar, Azza Aboul Enein, Iman Eyada, Sahar Khirat, Asmaa ElShahawy, Nehal Diaa, Ilham Youssry
Summary: This study aimed to determine the prevalence of SARS-CoV-2 antibodies among asymptomatic blood donors in Egypt during the third wave of the pandemic. The results showed an increasing trend in antibody prevalence during this period.
HEALTH SCIENCE REPORTS
(2022)
Article
Health Care Sciences & Services
Abdullah Al-Shahrani, Elhadi Miskeen, Farah Shroff, Suaad Elnour, Rawan Algahtani, Ilham Youssry, Samar Ahmed
Summary: This study aimed to assess the prevalence of PMS and its impact on quality of life among female medical students at Bisha University, with findings showing that factors such as exercise, body weight, and personality type are associated with PMS. PMS was found to significantly influence daily activities and academic performance among the participants.
JOURNAL OF MULTIDISCIPLINARY HEALTHCARE
(2021)
Article
Biochemistry & Molecular Biology
Ilham Youssry, Ayman El Badawy, Rania M. Samy, Niveen Salama, Dalia Abd Elaziz, Samia Rizk
