Publications by authors named "Troadec M"
Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.
Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges.
Article Synopsis
- - Myelodysplastic neoplasms (MDS) are blood disorders often linked to chromosomal abnormalities, with 40-45% of cases showing these changes at diagnosis and up to 80% in post-treatment MDS.
- - Recent changes in classifications by the WHO and ICC have introduced a new entity focusing on biallelic TP53 inactivation, which necessitates detailed genetic investigations, particularly on the TP53 locus.
- - While molecular features are becoming more essential for diagnosing and prognosing MDS, traditional cytogenetics—including karyotyping—remains crucial, and new scoring systems have been developed combining genetic mutations with established cytogenetic parameters.
Unlabelled: Genome editing, for instance by CRISPR-Cas, is a major advancement of the last 10 years in medicine but questions ethically our practices. In particular, human embryo heritable genome editing is a source of great controversy. We explored how this ethical question was debated in the literature from PubMed database, in a period of 4 years (2016-2020) around the announcement of the 'CRISPR babies' Chinese experiment in November 2018.
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- * This study introduces a method using convolutional neural networks (CNN) with a Siamese architecture to help cytogeneticists identify SCAs by comparing pairs of chromosomes, focusing on deletions like del(5q) and difficult inversions like inv(3).
- * The proposed models, particularly Xception and InceptionResNetV2, showed high accuracy in detecting these abnormalities, achieving over 97% F-scores for deletions and 94.82% for inversions, with the code available for public access.
Article Synopsis
- - The article summarizes the 2021 scientific meeting of the Club Hematopoiesis and Oncogenesis, which focuses on hematopoiesis and cancer mechanisms.
- - Key topics discussed include hematopoietic stem cell expansion, aging effects, the link between hematology and immunology, and the role of metabolism in blood cell development.
- - Recent advancements in understanding myeloid malignancies, lymphoid leukemia, lymphoma, and the influence of inflammation on monocyte differentiation were also highlighted.
As the human immunodeficiency virus (HIV) infection has become a chronic disease, the question of becoming a parent arises for HIV-positive people. There are several answers to this question, depending on the situation. Here is an overview of the risks and possibilities of procreation with HIV.
View Article and Find Full Text PDFAcute lymphoblastic leukemias (ALL) are the most frequent cancer in children and derive most often from B-cell precursors. Current survival rates roughly reach 90% at 10 years from diagnosis. However, 15-20% of children still relapse with a significant risk of death.
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- - Myelodysplastic syndromes (MDS) are linked to splicing defects, with numerous genes involved in pre-mRNA splicing being mutated.
- - Chromosomal deletions on 5q and 7q are key diagnostic indicators for MDS, as these regions contain many important splicing genes.
- - The review emphasizes the significance of haploinsufficiency and the combined impact of splicing gene defects in MDS development, advocating for further research to enhance diagnostic and prognostic practices.
Karyotype complexity has major prognostic value in many malignancies. There is no consensus on the definition of a complex karyotype, and the prognostic impact of karyotype complexity differs from one disease to another. Due to the importance of the complex karyotype in the prognosis and treatment of several hematological diseases, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) has developed an up-to-date, practical document for helping cytogeneticists to assess complex karyotypes in these hematological disorders.
View Article and Find Full Text PDFRNA-Binding Proteins (RBP) are very diverse and cover a large number of functions in the cells. This review focuses on RBM22, a gene encoding an RBP and belonging to the RNA-Binding Motif (RBM) family of genes. RBM22 presents a Zinc Finger like and a Zinc Finger domain, an RNA-Recognition Motif (RRM), and a Proline-Rich domain with a general structure suggesting a fusion of two yeast genes during evolution: and .
View Article and Find Full Text PDFMyelodysplastic syndromes (MDSs) are heterogeneous for their morphology, clinical characteristics, survival of patients, and evolution to acute myeloid leukemia. Different prognostic scoring systems including the International Prognostic Scoring System (IPSS), the Revised IPSS, the WHO Typed Prognostic Scoring System, and the Lower-Risk Prognostic Scoring System have been introduced for categorizing the highly variable clinical outcomes. However, not considered by current MDS prognosis classification systems, gene variants have been identified for their contribution to the clinical heterogeneity of the disease and their impact on the prognosis.
View Article and Find Full Text PDFETV6-RUNX1 and RUNX1 directly promote expression. ETV6-RUNX1 and RUNX1 preferentially bind to the −1200 bp enhancer of and the −80 bp promoter of gene respectively, and compete for these bindings. ETV6-RUNX1 and RUNX1 induce an excessive RAG recombinase activity.
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- Iron is essential for the formation and function of red blood cells (erythrocytes) and has some role in white blood cells, but its impact on platelets is less understood.
- Iron levels influence the development of blood cell precursors, affecting whether they become platelets or red blood cells, and iron within megakaryocytes (the cells that produce platelets) is crucial for energy production.
- Abnormal iron levels can lead to platelet count issues, such as increased platelets during low iron stores or decreased platelets in severe iron deficiency anemia, and the effects of iron overload on platelets remain debated.
Background: B Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL) is the most common pediatric cancer. Identifying key players involved in proliferation of BCP-ALL cells is crucial to propose new therapeutic targets. Runt Related Transcription Factor 1 (RUNX1) and Core-Binding Factor Runt Domain Alpha Subunit 2 Translocated To 3 (CBFA2T3, ETO2, MTG16) are master regulators of hematopoiesis and are implicated in leukemia.
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- The study investigates the hypothesis that genetic differences linked to ethnicity affect the manifestation of myelodysplastic syndrome (MDS) across different regions, particularly comparing Asian and Western countries.
- It reveals that Asian patients have a lower incidence and younger age of onset for MDS, with a higher representation in more severe risk categories compared to their Western counterparts.
- The research identifies distinct cytogenetic profiles, showing that specific genetic mutations are more prevalent in either region, which influences treatment approaches, yet overall survival rates between prognostic groups remain similar regardless of ethnicity.
Article Synopsis
- Mitochondrial iron import is crucial for creating iron-sulfur clusters and synthesizing heme, with two main iron importers identified in mammals: Mfrn1 and Mfrn2.
- Mice lacking Mfrn2 have reduced male fertility due to lower sperm counts and motility, while a specific loss of Mfrn1 in liver cells decreases mitochondrial iron and affects energy production proteins.
- Both Mfrn1 and Mfrn2 are essential for maintaining mitochondrial iron levels and support cell proliferation, indicating their key role in iron transport during active cellular growth.
Article Synopsis
- This research explores hybridosomes®, unique capsules made from inorganic nanoparticles and polymers, created through a simple emulsification process using THF, water, and BHT.
- A significant finding is that these capsules can hold a high concentration of a hydrophobic dye, reaching up to 0.35 mol/L, which amounts to about 170 g/L or approximately 450,000 dye molecules per capsule.
- The study also reveals the encapsulation mechanism and shows that the dye can be transferred to liposomes and diffuses throughout the body, where it accumulates in fat, while the nanoparticles remain trapped in the liver and spleen.
The role of iron in non-erythroid hematopoietic lineages and its implication in hemato-oncogenesis are still debated. Iron exerts an important role on hematopoietic stem cell transformation and on mature white blood cell differentiation. Iron acts experimentally as an oncogenic cofactor but its exact role in the transformation of the myelodysplastic syndrome into leukemia continues to be discussed.
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- - Agriculture has traditionally used methods like chemical mutagenesis and transgenesis for plant breeding, but genome editing offers a potentially more efficient way to make specific genetic modifications for desirable traits.
- - Like previous breeding techniques, genome editing poses risks, including unintended effects that require evaluation to ensure safety for health and the environment.
- - The High Council for Biotechnology has identified risks related to genome editing, including unforeseen technical effects, the novelty of modified traits, and changes in breeding practices due to the ease of editing, suggesting a need for tailored risk assessments.
Long-term survival rates in childhood acute lymphoblastic leukemia (ALL) are currently above 85% due to huge improvements in treatment. However, 15-20% of children still experience relapses. Relapses can either occur in the bone marrow or at extramedullary sites, such as gonads or the central nervous system (CNS), formerly referred to as ALL-blast sanctuaries.
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