Results 31 to 40 of about 169,956 (263)

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

Endocrine Connections, 2022
Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1).
Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet   +13 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

The association between history of appendectomy and gut microbiota composition: a follow-up cross-sectional study

Frontiers in Microbiology
IntroductionThe appendix is thought to act as a regulatory immune organ and gut microbiota reservoir. Although appendectomy is linked to health risks, its impact on the gut microbiota remains understudied.MethodsThis study is conceived as a cross ...
Matija Hadžić, Paul Hammer, Carsten Krumbiegel, Olga Moskalenko, Andrija Karačić, Andrija Karačić, Daria Hadžić   +6 more
doaj   +1 more source

New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia

Central European Journal of Immunology, 2021
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by the presence of cytopenias, ineffective hematopoiesis and frequent transformation into secondary acute myeloid leukemia (secAML).
Monika Małgorzata Adamska, Ewelina Kowal-Wiśniewska, Katarzyna Kiwerska, Adam Ustaszewski, Joanna Czerwińska-Rybak, Zuzanna Kanduła, Marzena Wojtaszewska, Marta Barańska, Łukasz Pruchniewski, Krzysztof Lewandowski, Małgorzata Jarmuż-Szymczak, Lidia Gil   +11 more
doaj   +1 more source

Cup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille, Hugo Roux, Odile Fenneteau, Aurélie Caye‐Eude, Alexia Kinoo, Yoann Vial, André Baruchel, Marion Strullu, Elodie Lainey, Hélène Cavé   +9 more
wiley   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Long‐Term Outcomes of Patients With Relapsed/Refractory Neuroblastoma Treated on ANBL1221: A Report From the Children's Oncology Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Results of COG ANBL1221 changed treatment paradigms for patients with relapsed/refractory neuroblastoma. Chemoimmunotherapy with irinotecan/temozolomide/dinutuximab is now used as both bridge therapy following suboptimal response to induction and as treatment in first relapse.
Elizabeth Sokol, Arlene Naranjo, Lulu Chen, Rajen Mody, Steven G. DuBois, Rochelle Bagatell, Navin Pinto   +6 more
wiley   +1 more source

Advancements and Applications of STR Kits in Forensic DNA Profiling: A Comprehensive Review

Baghdad Journal of Biochemistry and Applied Biological Sciences
Short tandem repeat (STR) analysis is a crucial technique in forensic science, providing high-resolution DNA profiling for criminal investigations, paternity tests, and identification of missing persons.
Omar A Mahmoud, Mohammed A. Hameed, Shahrazad H. Muhi, Farah B. Abed, Sahar M. Ibrahim, Ibrahim Ramzi Hadi, Dunya A. Mohammed, Ruaa Maan Attallah   +7 more
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Silurichthys marmoratus Ng & Ng 1998

, 2018
Silurichthys marmoratus Ng & Ng, 1998 BE Silurichthys hasseltii (non-Bleeker): Parenti & Meisner, 2003: 44 (upper and middle Belait). Silurichthys marmoratus Ng & Ng, 1998: 330 (Tutong district: Tasek Merimbun; Belait district: tributaries of Sungai Ingei); Sulaiman & Shahdan, 2003: 67 (Tasek Merimbun).
Sulaiman, Zohrah, Hui, Tan Heok, Lim, Kelvin Kok Peng   +2 more
openaire   +2 more sources