Article
Medical Laboratory Technology
Jie Gao, Wenjun Liu
Summary: Thalassaemia is a common hereditary haemolytic anaemia that imposes a heavy burden on families and society. Accurate and timely screening is vital for patients, and recent advances in screening technology have significantly improved accuracy.
CLINICA CHIMICA ACTA
(2022)
Article
Biochemistry & Molecular Biology
Daniel J. Jackson, Adam M. Dubis, Mariya Moosajee
Summary: This study reports the natural history of CNGB1-related RP and finds that it is a slowly progressive disease with patients maintaining visual acuity. Further research is needed to determine the clinical endpoints to be used in clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Genetics & Heredity
Keiji Honda, Andrew J. Griffith
Summary: Mutations in SLC26A4 can cause Pendred syndrome and DFNB4, with the CEVA haplotype potentially influencing the phenotype in EVA patients.
Article
Virology
Lucio Boglione, Ilaria De Benedetto, Tommaso Lupia, Jessica Cusato, Giuseppe Cariti, Giovanni Di Perri
Summary: European clinical practice guidelines on chronic hepatitis B have acknowledged the impact of migration flows on HBV epidemiology in low-endemic countries, while patients infected with genotype E show a lower decline in qHBsAg after ETV treatment, suggesting that TDF may be a better option.
ARCHIVES OF VIROLOGY
(2021)
Review
Clinical Neurology
Luca Bello, Eric. P. P. Hoffman, Elena Pegoraro
Summary: Despite having the same primary biochemical defect of dystrophin deficiency, patients with Duchenne muscular dystrophy (DMD) exhibit clinically relevant phenotypic variability. This review discusses the genetic modifiers that contribute to this variability, including specific DMD mutations, trans-acting genetic polymorphisms, and variations in clinical care. Genetic studies have identified modifiers that regulate inflammation and fibrosis, underlying the importance of therapies targeting these processes in slowing disease progression.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Medicine, General & Internal
Jian Zhang, Zhizhong Liu, Ribing Chen, Qingwei Ma, Qian Lyu, Shuhui Fu, Yufei He, Zijie Xiao, Zhi Luo, Jianming Luo, Xingyu Wang, Xiangyi Liu, Peng An, Wei Sun
Summary: This study constructed a machine learning model based on MALDI-TOF mass spectrometry to screen for thalassaemia, achieving good classification performance and showing great potential for rapid screening in large populations.
ANNALS OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Valeria Ramirez-Castaneda, Erin P. Westeen, Jeffrey Frederick, Sina Amini, Daniel R. Wait, Anang S. Achmadi, Noviar Andayani, Evy Arida, Umilaela Arifin, Moises A. Bernal, Elisa Bonaccorso, Marites Bonachita Sanguila, Rafe M. Brown, Jing Che, F. Peter Condori, Diny Hartiningtias, Anna E. Hiller, Djoko T. Iskandar, Rosa Alicia Jimenez, Rassim Khelifa, Roberto Marquez, Jose G. Martinez-Fonseca, Juan L. Parra, Joshua Penalba, Lina Pinto-Garcia, Onja H. Razafindratsima, Santiago R. Ron, Sara Souza, Jatna Supriatna, Rauri C. K. Bowie, Carla Cicero, Jimmy A. McGuire, Rebecca D. Tarvin
Summary: This article discusses issues of equality, inclusivity, ethics, and safety in field biology research and proposes four guiding principles for equitable practices. It also provides suggestions for global collaborators to make field biology more fair and encourages baseline training.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Lou Jiwu, Sun Manna, Meixiang Lai, Zhao Ying, Liu Yanhui
Summary: This study identified a homozygous beta(0)-thalassemia mutation in a 36-year-old pregnant woman, who did not show clinical symptoms possibly due to genetic modifiers. During pregnancy, she experienced complications of hyperhaemolysis, indicating disruption of disease state. Raised awareness of hyperhaemolysis is crucial in managing thalassemia patients, especially during pregnancy.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Hematology
Sujit Sheth, Ali T. Taher, Thomas D. Coates, Antonis Kattamis, Maria Domenica Cappellini
Summary: Patients with transfusion-dependent beta-thalassaemia rely on lifelong, regular red blood cell transfusions for survival. However, frequent blood transfusions come with risks such as iron overload, transfusion-transmitted disease, and reduced quality of life. Luspatercept has shown efficacy in reducing the need for transfusions in these patients by promoting erythroid maturation independently of erythropoietin. This review discusses treatment initiation, ongoing evaluation, dose adjustment, adverse event management, and guidance on determining clinical benefit in transfusion-dependent beta-thalassaemia patients receiving luspatercept.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Kongtana Trakarnsanga, Nontaphat Thongsin, Chanatip Metheetrairut, Chartsiam Tipgomut, Saiphon Poldee, Methichit Wattanapanitch
Summary: Beta-thalassaemia is a common genetic blood disease with over 300 mutations in the HBB gene, and recent advances in gene editing technology have provided a new approach for its treatment. The efficient genetic correction of HbE mutation in unique SiBBE cells offers an important research model for disease therapy validation.
SCIENTIFIC REPORTS
(2022)
Article
Plant Sciences
Jun Hu, Meng Mei, Fang Jin, Jianfei Xu, Shaoguang Duan, Chunsong Bian, Guangcun Li, Xiyao Wang, Liping Jin
Summary: Phenotypic evaluation and molecular biotechnology were used to investigate the variation and diversity of 149 main potato cultivars in China. The results showed high genetic variation based on SSR markers. Population structure analysis divided the varieties into three subgroups. The STI032 marker was found to be significantly associated with tuber starch content and growth period traits.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Suya Wang, Erika Yazawa, Erin M. Keating, Neil Mazumdar, Alexander Hauschild, Qing Ma, Haiyan Wu, Yang Xu, Xu Shi, Douglas Strathdee, Robert E. Gerszten, Michael Schlame, William T. Pu
Summary: Barth syndrome is an X-linked disorder caused by loss-of-function mutations in Tafazzin (TAZ). Genetic modifiers strongly influence the phenotypic expression of Taz inactivation.
HUMAN MOLECULAR GENETICS
(2023)
Article
Agronomy
Evangelia V. Avramidou, Theodoros Moysiadis, Ioannis Ganopoulos, Michail Michailidis, Christos Kissoudis, Dimitrios Valasiadis, Konstantinos Kazantzis, Eirini Tsaroucha, Athanasios Tsaftaris, Athanassios Molassiotis, Filippos A. Aravanopoulos, Aliki Xanthopoulou
Summary: Sweet cherry germplasm exhibits high phenotypic variation, which may be a result of genetic or epigenetic diversity. The genetic diversity was found to be greater than epigenetic diversity, and epigenetic diversity was shown to have a stronger impact on phenotypic traits in predefined populations of sweet cherry than genetic diversity.
Article
Food Science & Technology
Jessica Lleixa, Maria Martinez-Safont, Isabelle Masneuf-Pomarede, Maura Magani, Warren Albertin, Albert Mas, Maria C. Portillo
Summary: Brettanomyces bruxellensis is the most commonly reported spoilage yeast in aged wines due to phenolic off-flavors. A study on 64 B. bruxellensis strains isolated from Catalonian aging wines revealed high intraspecific diversity and varying levels of tolerance to sulfur dioxide. The strains were also capable of producing volatile phenols even as they lost culturability over time.
Article
Medicine, General & Internal
Muhammad Salman Khan, Azmat Ullah, Kaleem Nawaz Khan, Huma Riaz, Yasar Mehmood Yousafzai, Tawsifur Rahman, Muhammad E. H. Chowdhury, Saad Bin Abul Kashem
Summary: This study presents a novel method for automated assessment of thalassaemia using Hb electrophoresis images. It compiled a large dataset of Hb electrophoresis images and achieved high classification accuracy using deep convolutional neural networks and transfer learning.
Review
Hematology
Ruwindi Silva, Dinusha Amarasinghe, Shiromi Perera, Anuja Premawardhena
Summary: This article reviews the diagnostic methods and limitations of membranopathies in Asian countries. The study shows the use of different diagnostic methods such as full blood count, osmotic fragility test, flowcytometric osmotic fragility test, eosin-5-maleimide assay, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and genetic analysis. These methods can contribute to the diagnosis of membranopathies.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Nirmani Yasara, Nethmi Wickramarathne, Chamila Mettananda, Ishari Silva, Nizri Hameed, Kumari Attanayaka, Rexan Rodrigo, Nirmani Wickramasinghe, Lakshman Perera, Aresha Manamperi, Anuja Premawardhena, Sachith Mettananda
Summary: Hydroxyurea can increase fetal hemoglobin percentage and reduce erythropoietic stress in patients with transfusion-dependent beta-thalassaemia. It can also reduce the transfusion burden in approximately 40% of patients. The response to hydroxyurea is higher in patients with HbE beta-thalassaemia genotype and Xmn1 polymorphism of the gamma-globin gene.
SCIENTIFIC REPORTS
(2022)
Article
Public, Environmental & Occupational Health
Anuja P. Premawardhena, Dileepa Senajith Ediriweera, Amir Sabouhanian, Angela Allen, David Rees, Shanthimala de Silva, Windsor Perera, Nimal Katugaha, Mahinda Arambepola, Robert C. Yamashita, Sachith Mettananda, Nilam Jiffry, Vikita Mehta, Refai Cader, Dayananda Bandara, Timothy St Pierre, Giulia Muraca, Christopher Fisher, Abirami Kirubarajan, Shawn Khan, Stephen Allen, Sanath P. Lamabadusuriya, David J. Weatherall, Nancy F. Olivieri
Summary: The study conducted long-term observations on the survival and complications of patients with haemoglobin E thalassaemia, finding that male patients, those with a history of serious infections, and patients with higher estimated body iron burdens had poorer survival rates.
LANCET GLOBAL HEALTH
(2022)
Article
Medicine, General & Internal
Giulia Muraca, K. S. Joseph, Neda Razaz, Linnea Ladfors, Sarka Lisonkova, Olof Stephansson
Summary: This study revealed that factors not included in the Robson classification explain a significant proportion of spatiotemporal differences in CD rates in some Robson groups. Incorporating these factors into explanatory models using the Robson classification may be useful for informing evidence-based public health initiatives regarding CD rates.
Article
Hematology
Padmapani Padeniya, Dileepa Ediriweera, Arjuna P. De Silva, Madunil Niriella, Anuja Premawardhena
Summary: Non-alcoholic fatty liver disease (NAFLD) is a global health problem. This study aimed to evaluate the effects of iron overload and NAFLD on liver damage in patients with transfusion-dependent thalassaemia (TDT). The results showed that significant steatosis (S1) in TDT patients was associated with higher BMI and liver fibrosis scores, increasing the risk of liver fibrosis.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Letter
Medicine, General & Internal
Giulia M. Muraca, Sarka Lisonkova, K. S. Joseph
CANADIAN MEDICAL ASSOCIATION JOURNAL
(2022)
Article
Public, Environmental & Occupational Health
Sarka Lisonkova, Jeffrey N. Bone, Giulia M. Muraca, Neda Razaz, Amelie Boutin, Justin S. Brandt, Mohamed A. Bedaiwy, Cande Ananth, K. S. Joseph
Summary: The closure of ART clinics during the early pandemic resulted in a significant decline in ART-conceived live births and multiple births, as well as an increase in stillbirths among ART-conceived births. Women who conceived during the early pandemic period also had a higher prevalence of obesity and chronic hypertension.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2023)
Article
Pediatrics
Sarka Lisonkova, Ugochinyere Vivian Ukah, Sid John, Lauren Yearwood, Giulia M. Muraca, Neda Razaz, Yasser Sabr, Paul J. Yong, Mohamed A. Bedaiwy
Summary: The study found that the disparities in adverse perinatal outcomes between women who used medically assisted reproduction (MAR) and those who conceived spontaneously were larger in terms of race and ethnicity.
Article
Medicine, General & Internal
Padmapani Padeniya, Dileepa Senajith Ediriweera, Arjuna P. De Silva, Madunil Anuk Niriella, Anuja Premawardhena
Summary: The FIB-4 score is not a reliable screening tool for detecting significant liver fibrosis (F2) in patients with chronic transfusion-dependent beta-thalassemia (TDT), regardless of the cut-off point. The score may not accurately detect F2 fibrosis and has a low diagnostic yield.
Article
Obstetrics & Gynecology
Lauren Yearwood, Jeffrey N. Bone, Qi Wen, Giulia M. Muraca, Janet Lyons, Neda Razaz, K. S. Joseph, Sarka Lisonkova
Summary: Maternal stature affects the status of Small for Gestational Age (SGA) and Large for Gestational Age (LGA) at birth and neonatal outcomes. Quantifying this risk can assist healthcare providers in monitoring fetal growth and optimizing neonatal care and follow-up.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Editorial Material
Obstetrics & Gynecology
Neda Razaz, Giulia M. Muraca, Katharina Fink, Amelie Boutin, Sid John, Sarka Lisonkova, Olof Stephansson, Sven Cnattingius, K. S. Joseph
Summary: The optimal time of delivery in low-risk pregnancies to reduce the risk of stillbirth, infant mortality, and adverse neurodevelopmental outcomes is between 39 and 40 weeks of gestation.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2023)
Article
Medicine, General & Internal
K. S. Joseph, Carmen B. Young, Giulia M. Muraca, Amelie Boutin, Neda Razaz, Sid John, Sarka Lisonkova, R. Douglas Wilson
Summary: There is no clear association between the tier and volume of hospitals and adverse maternal and neonatal outcomes among patients with a previous cesarean delivery in Canada. Therefore, all hospitals should continually assess their rates of adverse outcomes for pregnant women and newborns.
CANADIAN MEDICAL ASSOCIATION JOURNAL
(2023)
Article
Obstetrics & Gynecology
Eleni Tsamantioti, Anna Sandstrom, Giulia M. Muraca, K. S. Joseph, Katarina Remaeus, Neda Razaz
Summary: This study aims to examine the temporal trends and regional variation in severe maternal morbidity (SMM) in Sweden. The results showed that the composite SMM rates increased and then declined from 1999 to 2019, consistent with changes in severe hemorrhage rates. Among the SMM types, severe pre-eclampsia, severe hemorrhage, and sepsis were the most common. These findings provide important insights into the maternal health status in different regions of Sweden and highlight the need for improvement in maternal health.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Multidisciplinary Sciences
Meejin Park, Susitha Wanigaratne, Rohan D'Souza, Roxana Geoffrion, Sarah A. Williams, Giulia M. Muraca
Summary: This protocol outlines a systematic review and meta-analysis aiming to determine the incidence of obstetric anal sphincter injury (OASI) in Asian individuals versus white individuals in high-income countries. The findings of this study will contribute to understanding the disparities in health outcomes between these two populations and inform equitable and accessible healthcare practices.
Meeting Abstract
Obstetrics & Gynecology
Sarka Lisonkova, Siddharth John, Lauren M. Yearwood, Vivian Ukah, Yasser Sabr, Giulia M. Muraca, Neda Razaz, Mohamed A. Bedaiwy
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
