Results 61 to 70 of about 23,913 (202)

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

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

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

Transcriptome Analysis Reveals Distinct Molecular Signatures Between Erosive and Non‐Erosive Oral Lichen Planus

Oral Diseases, EarlyView.
ABSTRACT Objectives To identify molecular mechanisms distinguishing the erosive subtype of oral lichen planus (EOLP) from the non‐erosive subtype (NEOLP) through transcriptomic analysis. Methods We analysed bulk RNA‐seq data from 30 buccal mucosa samples (13 EOLP, 17 NEOLP) using differential expression, Gene Set Enrichment Analysis (GSEA ...
Kisung Sheen, Chaerim Song, Kanghyun Kwon, Seoyeon Kim, Hye‐Ji Park, Man S. Kim   +5 more
wiley   +1 more source

Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants

Indian Journal of Hematology and Blood Transfusion, 2019
G6PD deficiency is a monogenic, X-linked genetic defect with a worldwide prevalence of around 400 million people and an overall prevalence of 8.5% in India. Hemolytic anemia is encountered in only a small proportion of patients with G6PD variants and is usually triggered by some exogenous agent.
Arun Kumar, Arunachalam, S, Sumithra, Madhavi, Maddali, N A, Fouzia, Aby, Abraham, Biju, George, Eunice S, Edison   +6 more
openaire   +3 more sources

Spatiotemporal Dynamics of Cytosolic NADPH in Living Arabidopsis thaliana

Plant, Cell &Environment, EarlyView.
ABSTRACT In plants, an adequate supply of Nicotinamide adenine dinucleotide phosphate (NADPH) in the cytosol is crucial for maintaining a variety of biosynthetic and antioxidant reactions. Cytosolic NADPH is mainly generated via four enzymatic pathways: NADP‐dependent malic dehydrogenase (NADP‐ME), cytosolic oxidative pentose phosphate pathway (cOPPP),
Danying Lu, Jinhong Liu, Shey‐Li Lim, Jia Yi Zhong, Boon Leong Lim   +4 more
wiley   +1 more source

Phylogeny and Origin of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Mutations in Indonesia

Indonesian Journal of Biotechnology, 2013
The aim of this study is to analyze the relationship between the types of G6PD mutations found in Indonesia and the relationships of mutations found in Indonesia to those found in other countries.
Maria Omega, Ross T. Barnard
doaj   +1 more source

Optimizing Pneumocystis jirovecii Prophylaxis in Immunocompromised Patients: Defining the Clinical Role of Atovaquone

Transplant Infectious Disease, EarlyView.
In a retrospective cohort study of 149 patients receiving atovaquone for PJP prophylaxis, increased usage was related to broader indications, uptake in new patient groups, difficulty tolerating or accessing alternatives, and longer durations used per patient.
To N. Pham, Kelly A. Cairns, Adithi Ramachandra, Susan G. Poole, Carmela E. Corallo, Bradley J. Gardiner   +5 more
wiley   +1 more source

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

Equine Veterinary Journal, Volume 58, Issue 5, Page 1396-1412, September 2026.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka, Bianka Świderska, Ewa Sitkiewicz, Izabela Dąbrowska, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

An analysis of two naturally : occurring G6PD deficient mutants, G6PD Campinus and G6PD Fukaya

, 2012
abstract ; published_or_final_version ; Biochemistry ; Master ; Master of ...
openaire   +2 more sources