Results 131 to 140 of about 68,369 (257)

Truncated FOS impairs osteogenic differentiation and induces prostaglandin and NFκB signalling in an in vitro cell‐of‐origin model for osteoid osteoma and osteoblastoma

The Journal of Pathology, EarlyView.
Abstract Osteoid osteoma and osteoblastoma are non‐malignant bone‐forming tumours of the skeleton, characterised by the presence of irregular trabeculae of woven bone. Rearrangements in FOS, and less frequently FOSB, have recently been identified in osteoid osteoma and osteoblastoma.
Suk Wai Lam, Tatiana Belova, Natasja Franceschini, Brendy van den Akker, David GP van IJzendoorn, Harald MM Mikkers, Hailiang Mei, Anne‐Marie Cleton‐Jansen, Marieke L Kuijjer, Karoly Szuhai, Judith VMG Bovée   +10 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Combination Effects of Clindamycin and Benzoyl Peroxide Against Cutibacterium acnes

The Journal of Dermatology, EarlyView.
ABSTRACT This study aimed to evaluate the clinical efficacy of combination therapy with clindamycin and benzoyl peroxide in treating acne vulgaris. We assessed the antimicrobial susceptibility of Cutibacterium acnes isolates obtained from these patients. In addition, the potential risk of C.
Koyo Yoshihara, Shoji Seyama, Nobukazu Hayashi, Yuki Horiuchi, Waka Ishida, Takae Yasuda, Ikue Hou, Tokihiko Shimada, Saori Murakami, Mie Kakuta, Junichi Sugai, Masako Watanabe, Akiko Ishii, Mayumi Nomoto, Hiroko Ichimiya, Noriko Tanaka, Chikage Takeo, Kazuha Kasugai, Miwa Kobayashi, Utako Kimura, Masumi Kohno, Emi Nakazaki, Chiaki Murase, Yoshitsune Ban, Yuko Fukano, Yoshiki Miyachi, Hidemasa Nakaminami   +26 more
wiley   +1 more source

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

Progressive Mauve: Multiple alignment of genomes with gene flux and rearrangement [PDF]

, 2009
Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms.
Darling, Aaron E., Mau, Bob, Perna, Nicole T.   +2 more
core  

Assessment of measurable residual disease in ovarian tissue collected for fertility preservation in patients in remission from acute myeloid leukaemia: A pilot study

British Journal of Haematology, EarlyView.
Summary Allogeneic haematopoietic stem cell transplantation (ASCT) is a curative treatment for acute myeloid leukaemia (AML) but carries a high risk of gonadotoxicity. Ovarian tissue cryopreservation (OTC) offers a fertility preservation option, yet its safety in AML remains uncertain due to the risk of leukaemic cell reintroduction. The FERTILAM pilot
Augustin Boudry, Florian Chevillon, Alice Marceau‐Renaut, Thorsten Braun, Thomas Boyer, Nathalie Helevaut, Elise Fournier, Sandrine Geffroy, Nicolas Boissel, Emmanuelle Clappier, Claude Preudhomme, Nicolas Duployez, Catherine Poirot, Laurène Fenwarth   +13 more
wiley   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Experimental evaluation of tenocillin clinical breakpoints against enterobacterales

, 2019
Dans le monde entier l’antibiorésistance des entérobactérales communautaires, notamment par production de ß-lactamase à spectre étendu (E-BLSE), conduit à une consommation préoccupante d’antibiotique de dernier recours tels les carbapénèmes. Dérivé de la ticarcilline la témocilline pourrait représentée une alternative y compris sur certaines ...
openaire   +1 more source

Preclinical models for evaluating psychedelics in the treatment of major depressive disorder

British Journal of Pharmacology, EarlyView.
Psychedelic drugs have seen a resurgence in interest as a next generation of psychiatric medicines with potential as rapid‐acting antidepressants (RAADs). Despite promising early clinical trials, the mechanisms which underlie the effects of psychedelics are poorly understood.
Laith Alexander, Dasha Anderson, Luke Baxter, Matthew Claydon, James Rucker, Emma S. J. Robinson   +5 more
wiley   +1 more source