Article
Biochemistry & Molecular Biology
Theodora Mahoukede Zohoncon, Abdou Azaque Zoure, Abdoul Karim Ouattara, Franck Bienvenu Zida, Marius Belemgnegre, Paul Ouedraogo, Jacques Simpore
Summary: This study reveals a high prevalence of chromosomal abnormalities, especially structural abnormalities, among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. These findings highlight the importance of genetic evaluation and counseling services in the region.
MOLECULAR BIOLOGY REPORTS
(2023)
Review
Cell Biology
Thomas Liehr
Summary: Chromosomal heteromorphisms (CHs) are part of genetic variation in humans. Recent research has raised questions about the potential role of CHs in cancer susceptibility. However, the current routine cytogenetic analysis does not give CHs sufficient consideration, which highlights the need for more attention in future research, particularly in the study of solid tumors.
Article
Oncology
Makia K. Manselle, Rhonda E. Ries, Tiffany Hylkema, Amanda Leonti, Danielle C. Kirkey, Scott N. Furlan, Soheil Meshinchi
Summary: Patients with acute myeloid leukemia (AML) can have different genetic and molecular abnormalities that affect their response to treatment. Monosomy 7 is a rare subset of pediatric AML (prevalence of <2%) that is associated with poor outcomes. Fusions involving the anaplastic tyrosine kinase (ALK) gene were found exclusively in 14.3% of high-risk monosomy 7 cases, but not in other forms of AML. The use of the FDA-approved tyrosine kinase inhibitor, crizotinib, may be a promising therapy for these patients.
PEDIATRIC BLOOD & CANCER
(2023)
Review
Microbiology
Kelly M. Herremans, Andrea N. Riner, Miles E. Cameron, Kelley L. McKinley, Eric W. Triplett, Steven J. Hughes, Jose G. Trevino
Summary: Pancreatic cancer patients have oral microbial shifts that may indicate their risk years before diagnosis, and pathogenic bacteria have been found in pancreatic tumors. Understanding the interaction between the oral microbiome and pancreatic cancer could lead to improved diagnostic and therapeutic approaches, reducing healthcare disparities.
Review
Immunology
Vicent Tur-Planells, Adolfo Garcia-Sastre, Sara Cuadrado-Castano, Estanislao Nistal-Villan
Summary: This review provides an overview of non-human-adapted RNA viruses used in cancer therapy and the diverse strategies employed to optimize their therapeutic capabilities. Through this article, we gain insights into the promising advancements in virotherapy and its potential to revolutionize cancer treatment.
Editorial Material
Multidisciplinary Sciences
Karen H. Miga
Summary: Since the publication of the human genome in 2001, advancements in sequencing technology have filled in many of the gaps in the original sequence, leading to a deeper knowledge of genome regulation, structure, and function.
Article
Hematology
Eri Kawata, Alejandro Lazo-Langner, Anargyros Xenocostas, Cyrus C. Hsia, Kang Howson-Jan, Uday Deotare, Lalit Saini, Ping Yang, Robert Broadbent, Michael Levy, Christopher Howlett, Alan Stuart, Jennifer Kerkhof, Stephanie Santos, Hanxin Lin, Bekim Sadikovic, Ian Chin-Yee
Summary: NGS has a superior diagnostic performance compared to CG in patients with suspected MDS, and mutations identified by NGS can alter patients' risk categories. Using an 'NGS-first approach' may significantly reduce the need for karyotyping.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Polymer Science
Harald Pasch, Paul Eselem Bungu
Summary: The application of high temperature high performance liquid chromatography (HT-HPLC) in the analysis of polyolefins' chemical composition is of great significance. HT-HPLC allows for the separation of crystalline and amorphous components in polyolefins, enabling comprehensive analysis of complex polyolefins.
EUROPEAN POLYMER JOURNAL
(2023)
Editorial Material
Multidisciplinary Sciences
Charles N. Rotimi, Adebowale A. Adeyemo
Summary: Over the past 20 years, the increasing diversity in genomic sequencing has provided valuable insights into our evolutionary history and health status.
Article
Oncology
Peter A. DeRosa, Kyle C. Roche, Victor E. Nava, Sunita Singh, Min-Ling Liu, Anita Agarwal
Summary: Myelodysplastic syndromes (MDS) and Waldenstrom's macroglobulinemia (WM) rarely occur together. This case report describes a unique case of concurrent MDS and WM with multiple somatic mutations, some of which have not been reported before, and a novel balanced reciprocal translocation.
News Item
Multidisciplinary Sciences
Loic Yengo
Summary: An increased number of damaging variations in certain genes is linked to a higher chance of male infertility. A geneticist and an anthropologist discuss the implications and limitations of this finding.
Review
Chemistry, Multidisciplinary
Ondrej Pos, Jan Radvanszky, Jakub Styk, Zuzana Pos, Gergely Buglyo, Michal Kajsik, Jaroslav Budis, Balint Nagy, Tomas Szemes
Summary: This review summarizes the methodological progress in detecting CNVs, from conventional approaches to state-of-the-art techniques capable of detecting CNVs of various sizes. While rapid progress in sequencing methods has enabled precise detection of CNVs, determining their functional effects on cellular and whole-body physiology remains a challenge.
APPLIED SCIENCES-BASEL
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jianfang Liu, Piaoe Zeng, Wei Guo, Chunjie Wang, Yayuan Geng, Ning Lang, Huishu Yuan
Summary: Radiomics based on MRI can predict the high-risk cytogenetic (HRC) status in multiple myeloma (MM) patients, with the LR classifier showing the best performance.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Genetics & Heredity
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B. Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M. Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S. Tonk, Robert W. Huff, Veronica Ortega, James R. Lupski, Steven E. Scherer, Rebecca Okashah Littlejohn, Gopalrao V. N. Velagaleti, Elizabeth R. Roeder, Sau Wai Cheung
Summary: This study identified background mosaicism for chromosomal structural abnormalities in a family, which resulted from an unbalanced translocation between the long arms of chromosomes 8 and 21. The mosaicism led to trisomy of the distal 21q and was associated with selective growth advantage of normal cells. Additionally, the study proposed that interstitial telomeric sequences might mediate recurring revertant mosaicism for some chromosomal structural abnormalities.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Biology
Julia Erin Wiedmeier-Nutor, Peter Leif Bergsagel
Summary: Multiple myeloma is a common hematologic malignancy that remains incurable. The development of this disease is closely related to complex genetic aberrations. This review summarizes the knowledge of these genetic aberrations and discusses the application of sensitive molecular techniques in the diagnosis of multiple myeloma.