Article
Medical Laboratory Technology
Jianlong Zhuang, Chunnuan Chen, Wanyu Fu, Yuanbai Wang, Qianmei Zhuang, Yulin Lu, Tiantian Xie, Ruofan Xu, Shuhong Zeng, Yuying Jiang, Yingjun Xie, Gaoxiong Wang
Summary: Comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) can effectively detect both deletional and nondeletional thalassemia variants. This study demonstrates the application value of TGS-based comprehensive analysis in detecting rare thalassemia gene variants.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2023)
Article
Medicine, Research & Experimental
Pakawit Lerksaipheng, Kittiphong Paiboonsukwong, Pimtip Sanvarinda, Rataya Leuchapudiporn, Ken-Ichi Yamada, Noppawan Phumala Morales
Summary: This study suggests that vascular complications in patients with beta-thalassemia are associated with oxidative modification of lipoproteins. The modification of lipid components may alter lipid peroxidation rate and products. Core lipids and cholesteryl esters levels determine the rate and total production of L center dot. Overall, lipoproteins in beta-thalassemia patients are more susceptible to lipid peroxidation.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Biochemistry & Molecular Biology
Niloofar Bazazzadegan, Seyedeh Sedigheh Abedini, Azita Azarkeivan, Susan Banihashemi, Nooshin Nikzat, Hossein Najmabadi, Maryam Neishabury
Summary: This study investigated the spectrum of HBB gene mutations in 2315 patients suspected of having thalassemia major or intermedia in Iran and compared the results with a meta-analysis of beta thalassemia cases in the Iranian population. The study found that IVSII-1 (G > A) and IVSI-5 (G > C) were the most common HBB gene mutations in this population, with frequencies ranging from 0.15% to 5.44%.
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
Cell Biology
Tao Liu, Jiangxue Qu, Mengyuan Tian, Rui Yang, Xueling Song, Rong Li, Jie Yan, Jie Qiao
Summary: Oocyte maturation is a complex process regulated by ovarian cells and extraovarian signals. Lipid metabolism plays a crucial role in providing energy and regulating hormone production and meiotic resumption. Endogenous and exogenous signals control the lipid metabolic homeostasis in follicles. Prolonged exposure to a high-fat environment can cause irreversible damage to follicular cells and oocyte meiosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Agriculture, Multidisciplinary
Huicui Liu, Tao Chen, Xiaoqing Xie, Xinlei Wang, Yiwen Luo, Nan Xu, Zhen Sa, Min Zhang, Zhifei Chen, Xinzhong Hu, Juxiu Li
Summary: The study demonstrates that BG from highland barley can significantly alleviate liver steatosis induced by NAFLD, by altering lipid metabolic patterns and regulating lipid metabolism-related genes. Additionally, the research also identified 13 differentially regulated lipid species that may serve as lipid biomarkers.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Honglin Han, Yuexuan Wang, Suifeng Xu, Chengzong Han, Qiwei Qin, Shina Wei
Summary: Lipid metabolism, particularly high-density lipoprotein (HDL), plays a crucial role in viral infections. This study investigates the role of Epinephelus coioides SR-B1 (Ec-SR-B1) in red-spotted grouper nervous necrosis virus (RGNNV) infection and reveals that Ec-SR-B1 can promote RGNNV infection. The study also demonstrates the involvement of HDL in facilitating RGNNV entry and the interaction between Ec-SR-B1 and RGNNV's capsid protein (CP).
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Medical Laboratory Technology
Weilun Huang, Shoufang Qu, Qiongzhen Qin, Xu Yang, Wanqing Han, Yongli Lai, Jiaqi Chen, Shihao Zhou, Xuexi Yang, Wanjun Zhou
Summary: This study presents a novel method for analyzing hemoglobinopathy variants using long-read TGS. The researchers designed a multiplex long PCR to prepare library templates and conducted sequencing on an Oxford Nanopore MinION instrument. The method showed high-throughput capability for molecular screening and genetic diagnosis of hemoglobinopathies.
CLINICAL CHEMISTRY
(2023)
Article
Oncology
Hou Qian, Weifeng Li, Xiuhua Lin, Ji Xu, Xiaoli Zhang, Weihua Zhao, Yike Wu, Wenlan Liu
Summary: A 15-year-old girl with severe thalassemia intermedia was found to have a compound heterozygous state of Chinese (G)gamma(+)((A)gamma delta beta)(0)/beta(CD17)-thalassemia combined with a -(SEA) deletion. Molecular analysis revealed that the proband inherited the mutations from her mother and father, with the father carrying a HBB heterozygous mutation and the mother being a double heterozygous carrier of the Chinese (G)gamma(+)((A)gamma delta beta)(0)-thalassemia mutation combined with a -(SEA) deletion. The proband experienced a worsening of clinical symptoms, from no obvious clinical symptoms to severe anemia and splenomegaly, and became dependent on monthly blood transfusions.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Pediatrics
Mona Asghari Ahmadabad, Noushin Pourreza, Setareh Ramezanpour, Adel Baghersalimi, Mersedeh Enshaei, Marjan Askari, Amirhossein Alizadeh, Elahe Izadi, Bahram Darbandi
Summary: This study reviewed the genetic testing and blood laboratory results of 455 candidates eligible for marriage in Rasht City, Iran, from March 21, 2013, to December 31, 2020. A total of 114 cases of alpha thalassemia were identified, with 15 different alpha mutations. The most common mutation was the -alpha(3.7) deletion in 55 patients (48.24%), followed by Hb Constant Spring (C.S) in 21 patients (18.42%) and poly A2 in 16 patients (14.03%). The study highlights the genetic heterogeneity and diversity of alpha thalassemia in the Rasht City population, providing valuable information for premarital screening, genetic counseling, prenatal diagnosis, preventive strategies, and the compilation of an alpha thalassemia catalog in Guilan province.
FRONTIERS IN PEDIATRICS
(2023)
Article
Dermatology
D. Li, E. Ryu, A. H. Saeidian, L. Youssefian, E. Oliphant, S. F. Terry, P. L. Tong, J. Uitto, N. K. Haass, Q. Li
Summary: Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues, typically caused by mutations in the ABCC6 gene. Cutis laxa (CL) presents with loose and sagging skin. Mutations in the GGCX gene were found to be associated with overlapping PXE/CL skin phenotypes.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Haokun Zhang, Ruilin Sun, Jian Fei, Hongyan Chen, Daru Lu
Summary: This study demonstrates the successful correction of a β-thalassemia mutation using prime editing, which restored the normal phenotype and proved the genomic safety of PE3.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Cecile Masson, Megane Brusson, Giulia Maule, Marion Rosello, Carine Giovannangeli, Vincent Abramowski, Jean-Pierre De Villartay, Jean-Paul Concordet, Filippo Del Bene, Wassim El Nemer, Mario Amendola, Marina Cavazzana, Anna Cereseto, Oriana Romano, Annarita Miccio
Summary: Sickle cell disease and beta-thalassemia can be treated by editing the HBG promoters to induce gamma-globin expression. This approach is safe and leads to reactivation of fetal hemoglobin and rescue of the pathological phenotype in patient hematopoietic stem/progenitor cells. Creating a binding site for the KLF1 activator is the most potent strategy.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Mohammad Hamid, Bijan Keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi-Anaei
Summary: The study analyzed the genotypes, hematologic values, and transfusion-dependence in patients with Hb H disease. It found that non-deletional Hb H disease is more severe and requires more blood transfusions compared to deletional Hb H disease. Specific gene mutations should be taken into consideration during counseling for high-risk couples.
SCIENTIFIC REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Julian Hurtado, Hassan Sellak, Giji Joseph, Caitlin V. Lewis, Crystal R. Naudin, Sergio Garcia, James Robert Wodicka, David R. Archer, W. Robert Taylor
Summary: This study demonstrates that beta-thalassemia leads to accelerated atherosclerosis. Hemopexin therapy reduces plaque accumulation in both beta-thalassemia and phenylhydrazine-treated mice.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Medicine, General & Internal
Babak Jamshidi, Mansour Rezaei, Farid Najafi, Azad Sheikhi
IRANIAN RED CRESCENT MEDICAL JOURNAL
(2020)
Article
Hematology
Mehdi Moradinazar, Farid Najafi, Yahya Pasdar, Behrooz Hamzeh, Ebrahim Shakiba, Mary Kathryn Bohn, Khosrow Adeli, Zohreh Rahimi
Summary: This study established hematological reference intervals for a healthy adult Kurdish population, finding significant age- and sex-specific differences as well as variations related to lifestyle factors such as smoking and physical activity. Ethnic-specific differences should be considered when establishing reference intervals for hematological parameters.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Mohammad-Taher Moradi, Hossein Fallahi, Zohreh Rahimi
MOLECULAR BIOLOGY REPORTS
(2020)
Article
Pathology
Mahdieh Aliyari, Daniel Elieh Ali Komi, Amir Kiani, Mahmoudreza Moradi, Maryam Tanhapour, Zohreh Rahimi, Hadi Mozafari, Ehsan Mohammadi-Noori, Tayebeh Pourmotabbed, Asad Vaisi-Raygani, Fariborz Bahrehmand
Summary: The study investigated the effects of CAV1-T29107A and eNOS G894T polymorphisms on serum hormone levels in patients with prostate cancer. The results showed that the AT + TT genotypes of the CAV1 gene were significantly associated with an increased risk of prostate cancer, particularly in smokers or patients with diabetes. Additionally, individuals carrying both the T allele of CAV1 A29107T and the T allele of eNOS G894T genes had a significantly increased risk of prostate cancer.
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
(2021)
Article
Medical Laboratory Technology
Abdalla Hussein Hama, Ebrahim Shakiba, Zohreh Rahimi, Mehran Karimi, Hadi Mozafari, Omed Adnan Abdulkarim
Summary: The study revealed the presence of vitamin D deficiency among sickle cell disease patients in Kurdistan of Iraq, with a high frequency of VDR FokI C allele. Vitamin D levels were correlated with lipid profile, and no significant difference was observed in VDR TaqI and GC polymorphisms between patients and controls.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Review
Oncology
Babak Sayad, Mehran Karimi, Zohreh Rahimi
Summary: Studies suggest that COVID-19 presentation in SCD patients varies with age, with children showing milder symptoms and older individuals more likely to experience severe outcomes. Pediatric intensive care unit admission rates should be carefully considered when managing SCD patients, given the potential for higher rates among this population.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Biotechnology & Applied Microbiology
Maryam Kohsari, Mehdi Moradinazar, Zohreh Rahimi, Yahya Pasdar, Ebrahim Shakiba
Summary: This study found that liver enzymes levels could be considered for early diagnosis of metabolic syndrome, hypertension, and cardiovascular diseases, with gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP) levels showing the strongest correlation with hypertension risk.
BIOMED RESEARCH INTERNATIONAL
(2021)
Article
Gastroenterology & Hepatology
Afsaneh Astinchap, Amirabbas Monazzami, Khadijeh Fereidoonfara, Zohreh Rahimi, Mehrali Rahimi
Summary: The study aimed to determine the effects of eight weeks of endurance and resistance training on BKL and FGF-21 proteins expression in diabetic women with NAFLD. Both training methods were found to modulate the destructive effects of type 2 diabetes and NAFLD on BKL and FGF-21 proteins expression, with no significant difference observed between the two training groups.
Review
Pediatrics
Somayeh Rahimi, Saba Zakeri, Mahsa Nouri, Yaser Mohassel, Bahareh Karami, Seyedeh Ozra Hosseini Jomor, Babak Sayad, Zeinab Mohseni Afshar, Zohreh Rahimi, Zahra Asadi
Summary: Studies have shown a lower prevalence of COVID-19 in beta-thalassemia patients compared to the general population, with mild to moderate cases especially in those without comorbidities. Beta-thalassemia children are susceptible to COVID-19 but tend to have less severe symptoms compared to adults.
IRANIAN JOURNAL OF PEDIATRICS
(2021)
Article
Medical Laboratory Technology
Farnaz Khalili, Asad Vaisi-Raygani, Ebrahim Shakiba, Maryam Kohsari, Maryam Dehbani, Rozita Naseri, Soheila Asadi, Ziba Rahimi, Mehrali Rahimi, Zohreh Rahimi
Summary: Chronic hyperglycemia leads to nerve tissue and retina damage through inflammatory pathways and oxidative stress mechanisms. The Keap1-Nrf2 pathway is an important antioxidant pathway affected by Keap1 variants, which may impact susceptibility to diabetes complications. In this study, patients with neuropathy had lower antioxidant levels and higher oxidative stress compared to those without complications, suggesting a role of reduced antioxidant system and Keap1 variants in the pathogenesis of diabetes and its complications. Monitoring oxidative stress parameters and using antioxidants in treatment of diabetic patients, especially those with complications, is recommended.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Public, Environmental & Occupational Health
Gulshan Omar Ahmed, Zohreh Rahimi, Maryam Kohsari, Ebrahim Shakiba
Summary: The study investigated the association between LPL S447X polymorphism and T2DM, obesity, lipid profile, and oxidative stress parameters in a population from the Kurdistan region of Iraq. It was found that obese diabetic patients had higher levels of triglycerides, cholesterol, and low-density lipoprotein-cholesterol, and lower level of high-density lipoprotein-cholesterol. The presence of LPL SX genotype was associated with decreased risk of T2DM and reduced levels of fasting blood sugar and oxidative stress.
HEALTH SCIENCE REPORTS
(2023)
Article
Genetics & Heredity
Shna Ahmed Mohhamed, Fatemeh Khadir, Zohreh Rahimi, Maryam Kohsari
Summary: This study aimed to investigate the association between klotho G395A (rs1207568) polymorphism and the risk of type 2 diabetes mellitus (T2DM) and its complication of nephropathy in the Kurdish population of Iraq, as well as its relation to biochemical and hematological parameters. The results showed significantly lower levels of vitamin D in T2DM patients compared to controls, and the klotho GA genotype increased the risk of T2DM by 2.2 times. The klotho AA genotype increased the risk of diabetic nephropathy by 2.72-fold and enhanced the risk of macroalbuminuria by 3.74-fold. Therefore, this polymorphism is associated with the occurrence risk of T2DM and diabetic nephropathy.
Article
Biochemistry & Molecular Biology
Amir Kiani, Daniel Elieh-Ali-Komi, Fariborz Bahrehmand, Shayan Mostafaei, Asad Vaisi-Raygani, Hosein Baniamerian, Farank Aghaz, Maryam Tanhapour, Ebrahim Shakiba, Zohreh Rahimi, Tayebeh Pourmotabbed
Summary: The study investigated the relationship between ACE gene I/D variation and oxidative stress in a group of SLE patients in west of Iran. PCR was used to determine genotypes and allele frequencies related to ACE (I/D) variation. The distribution of ACE I/D genotypes in SLE patients was different from that of the control group. The presence of DD genotype increased the risk of SLE, while ID genotype decreased the risk. SLE patients with DD and ID genotypes had lower PON activity and higher levels of MDA and neopterin.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Genetics & Heredity
Maryam Zangeneh, Sara Heydarian, Zahra Seifi, Maryam Kohsari, Zohreh Rahimi
Summary: This study investigates the role of Keap1 variants and the methylation status of lncRNA MEG3 in the risk of preeclampsia. The results suggest that the Keap1 rs11085735 polymorphism and the hypermethylation status of lncRNA MEG3 are associated with the development and risk of preeclampsia.
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
(2022)
Review
Public, Environmental & Occupational Health
Fatemeh Babajani, Atefeh Kakavand, Hossien Mohammadi, Armin Sharifi, Saba Zakeri, Soheila Asadi, Zeinab Mohseni Afshar, Zohreh Rahimi, Babak Sayad
Summary: The study reviewed the role and alterations of RAAS components in SARS-CoV-2 infection and proposed potential therapeutic approaches, such as ACE inhibitors, angiotensin receptor blockers, and mineralocorticoid receptor inhibitors. Additionally, other potential treatments like beta-adrenergic blockers and vitamin D were suggested along with ongoing clinical trials to evaluate the efficacy and safety of these agents in managing and treating COVID-19.
HEALTH SCIENCE REPORTS
(2021)
