Noémi Roy
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View article: Impact of social distancing on psychological wellbeing through psychological capital during COVID-19
Impact of social distancing on psychological wellbeing through psychological capital during COVID-19 Open
A BSTRACT Objective: The objective of the study is to examine the significant impact of social distancing on psychological capital and to examine the relationship between social distancing and psychological wellbeing through the mediation …
View article: Prevalence and patterns of testing for anaemia in primary care in England: a cohort study using an electronic health records database
Prevalence and patterns of testing for anaemia in primary care in England: a cohort study using an electronic health records database Open
Background Despite epidemiological data on anaemia being available on a global scale, the prevalence of anaemia in the UK is not well described. Aim To describe anaemia prevalence and testing patterns for haemoglobin and other blood parame…
View article: uRADAR: European Patients Referral Frame to Improve Access to New Drugs and Therapies in Ultra-Rare Anemia Disorders and Severe Hereditary Spherocytosis
uRADAR: European Patients Referral Frame to Improve Access to New Drugs and Therapies in Ultra-Rare Anemia Disorders and Severe Hereditary Spherocytosis Open
Background: Ultra-rare anemia disorders (uRADs) are commonly neglected from health planning and clinical research hampering its timely diagnosis and leading to sub-optimal clinical management and very few treatment options. The Rare Anemia…
View article: Temporal changes in erythroid progenitors in critically ill patients: a prospective cohort study
Temporal changes in erythroid progenitors in critically ill patients: a prospective cohort study Open
Not available.
View article: The impact of different doses of oral iron supplementation during pregnancy: a pilot randomized trial
The impact of different doses of oral iron supplementation during pregnancy: a pilot randomized trial Open
Oral iron is first-line medication for iron deficiency anemia in pregnancy. We conducted a pilot randomized trial to investigate the impact of different doses of oral iron supplementation started early in pregnancy on women without anemia …
View article: COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
Background Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID-19. The ERN-EuroBloodNet's registry provided real-time re…
View article: Erythrocyte deformability correlates with systemic inflammation
Erythrocyte deformability correlates with systemic inflammation Open
Recent evidence suggests that systemic conditions, particularly those associated with inflammation, can affect erythrocyte deformability in the absence of haematological conditions. In this exploratory study, we investigated the relationsh…
View article: Overarching Priorities for Health and Care Research in the United Kingdom: A Coproduced Synthesis of James Lind Alliance ‘Top 10s’
Overarching Priorities for Health and Care Research in the United Kingdom: A Coproduced Synthesis of James Lind Alliance ‘Top 10s’ Open
Introduction James Lind Alliance (JLA) Priority Setting Partnerships (PSPs) produce ‘Top 10’ lists of health and care research priorities through a structured, shared decision‐making process with patients or service users, carers and healt…
View article: The future of myelodysplastic syndrome—patient priorities and outcomes that matter
The future of myelodysplastic syndrome—patient priorities and outcomes that matter Open
Background Without a definitive curative option available to many patients, learning to live with myelodysplastic syndrome (MDS) and manage symptoms effectively becomes a priority in their care. Anaemia is an almost universal feature of MD…
View article: Ancient genomic linkage couples metabolism with erythroid development
Ancient genomic linkage couples metabolism with erythroid development Open
Generation of mature cells from progenitors requires tight coupling of differentiation and metabolism. During erythropoiesis, erythroblasts are required to massively upregulate globin synthesis then clear extraneous material and enucleate …
View article: Significant haemoglobinopathies: A guideline for screening and diagnosis
Significant haemoglobinopathies: A guideline for screening and diagnosis Open
Summary Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow‐up…
View article: RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation Open
Summary The controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate …
View article: The use of <scp>next‐generation</scp> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
The use of <span>next‐generation</span> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper* Open
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care…
View article: S283: ERN-EUROBLOODNET EUROPEAN REGISTRY OF PATIENTS AFFECTED BY RED BLOOD CELL DISORDERS AND COVID-19
S283: ERN-EUROBLOODNET EUROPEAN REGISTRY OF PATIENTS AFFECTED BY RED BLOOD CELL DISORDERS AND COVID-19 Open
Background: Patients with red blood cell disorders (RBCD), are likely to be at increased risk of complications from SARS-Cov-2 (Covid-19), but evidence in this population is scarce due to its low frequency and heterogeneous distribution. A…
View article: The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper Open
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care…
View article: P1728: THE FUTURE OF MYELODYSPLASTIC SYNDROME – PATIENT PRIORITIES AND OUTCOMES THAT MATTER
P1728: THE FUTURE OF MYELODYSPLASTIC SYNDROME – PATIENT PRIORITIES AND OUTCOMES THAT MATTER Open
Background: Without a definitive curative option available to many patients, learning to live with myelodysplastic syndrome (MDS) and manage symptoms effectively becomes a priority in their care. Anaemia is an almost universal feature of M…
View article: P137: WHAT’S IN A NAME? PATIENTS WANT US TO RETHINK ‘SICKLE CELL DISEASE’
P137: WHAT’S IN A NAME? PATIENTS WANT US TO RETHINK ‘SICKLE CELL DISEASE’ Open
Racism impacts all aspects of patient care, not least for those with Sickle Cell Disease (SCD). Minimal research exists in this area, despite being long identified as a compelling issue for patients [1], and highlighted as a “Top 10” Prior…
View article: P104: BASE EDITING REPAIRS THE HBE MUTATION RESTORING THE PRODUCTION OF NORMAL GLOBIN CHAINS IN SEVERE HBE/β-THALASSEMIA PATIENT HEMATOPOIETIC STEM AND ERYTHROID CELLS
P104: BASE EDITING REPAIRS THE HBE MUTATION RESTORING THE PRODUCTION OF NORMAL GLOBIN CHAINS IN SEVERE HBE/β-THALASSEMIA PATIENT HEMATOPOIETIC STEM AND ERYTHROID CELLS Open
Aims: HbE/β-thalassemia is the commonest form of severe β-thalassemia, and comprises approximately 50% of all cases worldwide1. HbE/β-thalassemia is caused by the HbE codon 26 G>A mutation on one allele and any β0-thalassemia mutation on t…
View article: Dimensional reduction based on peak fitting of Raman micro spectroscopy data improves detection of prostate cancer in tissue specimens
Dimensional reduction based on peak fitting of Raman micro spectroscopy data improves detection of prostate cancer in tissue specimens Open
Combining individual intensity features and novel Raman fitted peak features, improved the classification performance on two independent and multicenter testing sets in comparison to using only individual intensity features.
View article: ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19
ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19 Open
PV, NR and MMP contributed equally Introduction Patients with red blood cell disorders (RBCD), chronic life threating multisystemic disorders in their severe forms, are likely to be at increased risk of complications from SARS-Cov-2 (Covid…
View article: Iron overload in inherited anaemias: why one size can't fit all
Iron overload in inherited anaemias: why one size can't fit all Open
For a small proportion of the UK population, life can only be sustained through regular transfusions of blood. Such is the reality for the ~600 people living with thalassaemia major and ~200–300 living with conditions such as Diamond–Black…
View article: Recommendations for diagnosis and treatment of methemoglobinemia
Recommendations for diagnosis and treatment of methemoglobinemia Open
Methemoglobinemia is a rare disorder associated with oxidization of divalent ferro‐iron of hemoglobin (Hb) to ferri‐iron of methemoglobin (MetHb). Methemoglobinemia can result from either inherited or acquired processes. Acquired forms are…