Results 171 to 180 of about 49,281 (297)

Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study

Andrology, EarlyView.
ABSTRACT Background Genetic variability within the follicle‐stimulating hormone (FSH)‐related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. Objectives To investigate the association between FSHB c.211 G > T and FSHR polymorphisms (c.2039 A > G ...
Andrea Graziani, Giuseppe Grande, Maria Santa Rocca, Massimo Iafrate, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +6 more
wiley   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Diagnostic Yield of Phenotype-Guided Genetic Testing in Infertility: A Five-Year Retrospective Study from a Tertiary Referral Cohort. [PDF]

Diagnostics (Basel)
Aleknavičienė K, Šukys M, Žemeckienė Ž, Žilaitienė B, Ugenskienė R.   +4 more
europepmc   +1 more source

Management of congenital female genital tract anomalies related to primary amenorrhea and/or cyclic abdominal pain: A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Overall, 21 patients with uterine, cervical, and vaginal aplasia were treated successfully with neovagina formation. In 6 out of 8 patients, with obstructed uterine cavity, anastomosis was successful; one underwent hysterectomy and one elective hemi‐hysterectomy.
Grigoris F. Grimbizis, Sofia Tsiapakidou, Eirini Iordanidou, Georgios Kioussis, Anastasia Vatopoulou, Theodoros Theodoridis   +5 more
wiley   +1 more source

Improved survival with fludarabine‐based therapies in mixed phenotype acute leukaemia: A population‐based study using the WHO 2022 classification

British Journal of Haematology, EarlyView.
Summary Mixed phenotype acute leukaemia (MPAL) is a rare subtype of acute leukaemia possessing significant therapeutic challenges, as no standardized, evidence‐based treatment regimen has been defined. In this nationwide study, we aimed to assess the effect of an acute lymphoid leukaemia (ALL)‐like regimen; an acute myeloid leukaemia (AML)‐like regimen;
Lisa‐Maj Christensen, Mikkel Runason Simonsen, Jonas Faartoft Jensen, Daniel Tuyet Kristensen, Karen Dybkær, Kirsten Grønbæk, Tarec Christoffer El‐Galaly, Marianne Schmidt Ettrup, Hans Beier Ommen, Anne Louise Tølbøll Sørensen, Dennis Lund Hansen, Marianne Tang Severinsen   +11 more
wiley   +1 more source

Genome-wide copy number profiling enhances risk stratification in multiple myeloma by shallow whole-genome sequencing. [PDF]

Blood Adv
Fang B, Zhu Z, Chang Y, He X, Li S, Li M, Yan S, Zhu D, Li Z, Mao M.   +9 more
europepmc   +1 more source

High frequency of CD95+/CD45RA− regulatory T cells defines an immunosuppressive profile associated with MDS progression

British Journal of Haematology, EarlyView.
Summary Dynamic interactions between mutated haematopoietic cells and immune cells are key drivers of myelodysplastic neoplasms (MDS) initiation and progression. Regulatory T cells (Tregs) are central mediators of immunosuppression in MDS. We thus aimed to characterize Treg subpopulations in the bone marrow (BM) of MDS patients and to explore their ...
Romain Vazquez, Nicolas Deredec, Ismael Boussaid, Pierre Boncoeur, Camille Knosp, Amandine Houvert, Loria Zalmai, Chloe Friedrich, Carole Almire, Charles Dussiau, Lise Willems, Rudy Birsen, Justine Decroocq, Didier Bouscary, Olivier Kosmider, Shahram Kordasti, Michaela Fontenay, Yannick Simoni, Nicolas Chapuis   +18 more
wiley   +1 more source

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

Real‐world treatment patterns and outcomes in accelerated and blast‐phase myeloproliferative neoplasms: Insights from a large multi‐centre cohort analysis in the United Kingdom

British Journal of Haematology, EarlyView.
Summary This UK‐based retrospective analysis describes real‐world treatment patterns and outcomes in 175 patients with accelerated (AP, n = 69) or blast‐phase (BP, n = 106) ‘Philadelphia‐negative’ myeloproliferative neoplasms (MPN‐AP/BP) diagnosed between 2013 and 2025. Median age at transformation was 71 years.
Alexandros Rampotas, Gabriel Naylor‐Layland, Clare Brown, Ahmad Alabdulkarim, Jennifer Ryan, Frances Wadelin, Samah Alimam, Phyo Wint Wint Tun, Jonathan Lambert, Jennifer O'Sullivan, Andrew J. Wilson, Laith Tafesh, Andrew McGregor, Simone Claudiani, Andrew Innes, Emily Booth, James Leveson, Steve Knapper, Mamta Garg, Mani Dubey, Theodora Vatopoulou, Charlotte Brierley, Wai Ka Natalie Leung, Graham Greenfield, Mary Frances McMullin, Alesia Khan, Kate Milne, Duncan Brian, Anna Godfrey, Claire N. Harrison, Bethan Psaila, Patrick Harrington, Amy Kirkwood, Tim C. P. Somervaille, Donal P. McLornan, on behalf of the UK Blood Cancer Research Network MPN Clinical Study Group   +35 more
wiley   +1 more source

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source