Results 71 to 80 of about 1,019,197 (220)

Cardiac Failure Associated With G6PD Deficiency [PDF]

Circulation Research, 2003
To the Editor: Jain et al1 made the very interesting suggestion that glucose-6-phosphate dehydrogenase (G6PD) deficiency contributes to cardiac dysfunction through increased susceptibility to oxidative injury and impairment of intracellular calcium transport in cardiomyocytes from rats.
Drent, M., Gorgels, A.P.M., Bast, A.
openaire   +2 more sources

Hydroxyurea (hydroxycarbamide) use in adults with haemoglobin SC disease: A real‐world study in Quebec

British Journal of Haematology, EarlyView.
Summary Haemoglobin SC (HbSC) disease is the second most prevalent form of sickle cell disease, but evidence for hydroxyurea (hydroxycarbamide; HU) to prevent pain episodes was limited until the prospective identification of variables as outcomes for treatment (PIVOT) trial.
Alice Girard, Laurianne Charette, Mélissa Haouchine, Laurence Bozec, Mohamed Zakaria Bachir Bouyadjera, Mariane Poitras, Vincent‐Thierry Taillefer, Chloé Trudeau, Yves Pastore, Nathalie Letarte, Stéphanie Forté   +10 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Methaemoglobinaemia: From pathophysiology to contemporary clinical management

British Journal of Haematology, EarlyView.
Summary Methaemoglobin (MetHb) is an oxidised form of haemoglobin (Hb) unable to bind oxygen. Raised levels of MetHb reduce the blood's oxygen‐carrying capacity, causing potentially severe hypoxaemia and possible death. The condition arises from three main pathologies: mutations in globin genes causing Haemoglobin‐M, inherited deficiency of the enzyme ...
Alexander J. Twine, David C. Rees
wiley   +1 more source

Identification of predictive factors for reversal of cerebral vasculopathy in an original longitudinal cohort study in newborns with sickle cell anaemia

British Journal of Haematology, EarlyView.
Summary Cerebral macrovasculopathy (CV) is a major complication in children with sickle cell anaemia (SCA) and usually requires a long‐term transfusion programme (TP) to prevent stroke. This study aimed to identify factors predicting reversal of CV on TP in a single‐centre newborn cohort. Among 375 patients, 50 presented CV and received TP.
Julie Sommet, Priscilla Boizeau, Zinedine Haouari, Berengère Koehl, Monique Elmaleh, Emmanuelle Lesprit, Florence Missud, Ghislaine Ithier, Laurent Holvoet, Valentine Brousse, Christophe Delclaux, André Denjean, Suzanne Verlhac, Corinne Alberti, André Baruchel, Nathalie Couque, Malika Benkerrou   +16 more
wiley   +1 more source

Prevalence of G6PD deficiency and diagnostic accuracy of a G6PD point-of-care test among a population at risk of malaria in Myanmar

Malaria Journal, 2023
Background Over the past decade, the incidence of malaria has steadily declined in Myanmar, with Plasmodium vivax becoming predominant. The resilience of P.
Than Htike Aung, Chayanut Suansomjit, Zaw Min Tun, Tin Maung Hlaing, Jaranit Kaewkungwal, Liwang Cui, Jetsumon Sattabongkot, Wanlapa Roobsoong   +7 more
doaj   +1 more source

Is intravenous vitamin C contraindicated in patients with G6PD deficiency?

Critical Care, 2019
There is increasing interest in the use of intravenous vitamin C as adjunctive treatment in the management of patients with sepsis and septic shock. Currently, there are at least 20 randomized controlled trials worldwide testing this intervention in ...
P. Marik
semanticscholar   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Primaquine ineligibility in anti-relapse therapy of Plasmodium vivax malaria: the problem of G6PD deficiency and cytochrome P-450 2D6 polymorphisms

Malaria Journal, 2018
The hypnozoite reservoir of Plasmodium vivax represents both the greatest obstacle and opportunity for ultimately eradicating this species. It is silent and cannot be diagnosed until it awakens and provokes a clinical attack with attendant morbidity ...
J. Baird, K. Battle, R. Howes, R. Howes
semanticscholar   +1 more source

Comparison of pharmacogenomic guidance in Australian prescribing resources and international pharmacogenomic guidelines

Internal Medicine Journal, EarlyView.
Abstract Background Pharmacogenomic‐guided medication management optimises drug therapy to enhance patient outcomes. Despite clinical utility, implementation in Australia remains limited, partly due to the lack of clear and consistent guidance. Aim This study evaluated the presence and consistency of pharmacogenomic testing indication categories and ...
Ruby Soueid, Jackson L. A. Thomas, Luke B. Hesson, Stephen Hughes, Sophie L. Stocker   +4 more
wiley   +1 more source