Results 121 to 130 of about 47,234 (246)

Better 10‐Year Cerebrovascular Outcome After Transplant Than on Standard‐Care in Sickle Cell Anemia: DREPAGREFFE Trial

American Journal of Hematology, EarlyView.
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin, Suzanne Verlhac, Elisabeth Ducros‐Miralles, Cécile Arnaud, Isabelle Genty, Marie Petras, Catherine Paillard, Gonzalo De Luna, Benoit Meunier, Isabelle Thuret, Annie Kamdem, Corinne Pondarré, Giovanna Cannas, Christelle Chantalat‐Auger, Nadia Firah, Sophie Pertuisel, Laure Joseph, Florence Missud, Mariane de Montalembert, Corinne Guitton, Claire Pluchart, Valentine Brousse, Monique Elmaleh, Vincent Gajdos, Emmanuella Leveillé, Ekaterina Belozertseva, Mabel Gaba, Catherine Poirot, Virginie Barraud‐Lange, Philippe Chadebech, France Pirenne, Myriam Bernaudin, Bénédicte Neven, Pierre Frange, Marie Angoso, Karima Yakouben, Bénédicte Bruno, Nathalie Dhédin, Jean‐Hugues Dalle, Regis Peffault Delatour, Camille Jung   +40 more
wiley   +1 more source

Clinically Relevant Bleeding in Individuals With Cancer: Insights From a Nationwide Cohort Study

American Journal of Hematology, EarlyView.
ABSTRACT Cancer care is often complicated by coagulopathy leading to thrombosis and bleeding. While venous thromboembolism (VTE) has been extensively studied, bleeding remains an underestimated threat. To address this knowledge gap, we leveraged the Epic Cosmos database to determine the impact of cancer‐associated clinically relevant bleeding (CRB) in ...
Ming Y. Lim, Radhika Gangaraju, Omid Jafari, Zihan Yang, Joyce W. T. Tiong, Elizabeth C. L. Chiang, Shengling Ma, Jun Y. Jiang, Justine Ryu, Barbara D. Lam, Mrinal Ranjan, Ang Li   +11 more
wiley   +1 more source

Metabolic, epigenetic, and immune crosstalk in ovarian aging. [PDF]

iScience
Li J, Liao Q, Yang Y, Wang K, Liu W, Zhou F, Liu H, Zhang Y.   +7 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

A Decline in Follicle Cell Function Is a Major Driver of Drosophila Ovarian Aging. [PDF]

Aging Cell
Wolfgram EA, Nystul TG.
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Epigenetic deciphering of ovarian aging: multilayer interactive mechanisms and targeted reversal strategies. [PDF]

Epigenetics Chromatin
Zhang Y, Yang Y, Liao Q, Chen X, Wang K, Zhang R, Li J, Liu H.   +7 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source