Results 51 to 60 of about 235,143 (310)

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Patient-reported characteristics of pernicious anaemia: a first step to initiate James Lind Alliance Priority Setting Partnership driven research

BMC Primary Care
Background Pernicious anaemia (PA) is characterised by vitamin B12 deficiency due to autoimmune-mediated loss of gastric parietal cells and intrinsic factor - a specific transporter for B12’s intestinal uptake.
Alfie Thain, Petra Visser, Kathryn Hart, Ebba Nexo, Andrew McCaddon, Luciana Hannibal, Bruce HR Wolffenbuttel, Ralph Green, Nicola Ward, Catherine Heidi Seage, Katrina Burchell, Kourosh R. Ahmadi   +11 more
doaj   +1 more source

Contemporary management of anaemia, erythropoietin resistance and cardiovascular risk in patients with advanced chronic kidney disease: a nationwide analysis

Clinical Kidney Journal, 2020
Background Optimal management of chronic kidney disease (CKD) anaemia remains controversial and few studies have evaluated real-world management of anaemia in advanced CKD in the context of guideline recommendations. Methods We performed an observational
M. Evans, H. Bower, E. Cockburn, S. Jacobson, P. Bárány, J. Carrero   +5 more
semanticscholar   +1 more source

A Comparative Study of Cerebral Oxygenation During Exercise in Hemodialysis and Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou, Konstantina Dipla, Danai Faitatzidou, Fotini Iatridi, Areti Georgiou, Artemios Karagiannidis, Erasmia Sampani, Chrysostomos Dimitriadis, Aggelos Koutlas, Andreas Zafeiridis, Pantelis Sarafidis   +10 more
wiley   +1 more source

Baseline severe anaemia should not preclude use of zidovudine in antiretroviral‐eligible patients in resource‐limited settings

Journal of the International AIDS Society, 2010
Background Stavudine is no longer recommended as part of first‐line therapy for patients initiating antiretroviral therapy (ART) in Uganda. Most patients are currently initiated on zidovudine‐containing regimens, which can induce anaemia. We investigated
Agnes N Kiragga, Barbara Castelnuovo, Damalie Nakanjako, Yukari C Manabe   +3 more
doaj   +1 more source

Association of Anaemia with Metastasis in Non Haematological Malignancies: A Cross-sectional Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Anaemia and cancer are two non communicable diseases with high global prevalence. The presence of anaemia in cancer patients is common, and its aetiology is multifactorial. Aim: To analyse the clinical profile, type and severity of anaemia
Bhumika Vaishnav, Nirali Thakkar, Aniruddh N Wadivkar, Saish Mondkar, Kshiti   +4 more
doaj   +1 more source

Iron deficiency anaemia in pregnancy: A contemporary review

Obstetric Medicine, 2020
Summary Iron deficiency anaemia is a global health problem, which particularly affects pregnant women. Iron deficiency anaemia during pregnancy is associated with increased maternal and perinatal morbidity and mortality. Maternal iron deficiency may also
Charlotte S Benson, Akshay Shah, M. Frise, C. Frise   +3 more
semanticscholar   +1 more source

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, EarlyView.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

Incidence and predictors of recovery from anaemia within an HIV-infected South African Cohort, 2004-2010

The Pan African Medical Journal, 2014
INTRODUCTION: Anaemia is one of the most frequent haematological complications in HIV-infected persons. Understandingfactors associated with recovery from anaemia during ART is vital in improving clinical outcomes since anaemia is a strong predictor of ...
Zibusiso Ndlovu, Tobias Chirwa, Simbarashe Takuva   +2 more
doaj   +1 more source

Integration of circadian and hypoxia signaling via non‐canonical heterodimerization

FEBS Letters, EarlyView.
CLOCK, BMAL1, and HIFs are basic helix‐loop‐helix and Per‐Arnt‐Sim domain (bHLH‐PAS) proteins, which function as transcription factors. bHLH‐PAS proteins are designated in two classes. Many class I proteins are regulated by environmental signals via their PAS domains, but such signals have not been identified for all.
Sicong Wang, Katja A. Lamia
wiley   +1 more source