Publications by authors named "Noemi Ba Roy"
Despite epidemiological data on anaemia being available on a global scale, its prevalence in the United Kingdom is not well described. To investigate anaemia prevalence and testing patterns for haemoglobin and other blood parameters. A population-based cohort study using data drawn from the Clinical Practice Research Datalink Aurum database in 2019.
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- Sickle cell disease (SCD) is a serious genetic illness affecting many people in Europe, especially those from minority groups who might not have a lot of health education or support.
- To help these patients have a say in research about their illness, special events were organized where they could share their ideas and needs.
- These workshops helped patients, caregivers, and doctors work together better, making it easier to gather important research questions and educate everyone involved about SCD.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
August 2023
Background: Sickle cell disease (SCD), one of the commonest severe monogenic disorders, is caused by the inheritance of two abnormal haemoglobin (beta-globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Kidney disease is a frequent and potentially severe complication in people with SCD.
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- The study investigates the role of paused RNA polymerase II (Pol II) in gene regulation, particularly in the context of β-thalassemia and its effects on erythropoiesis (red blood cell formation).
- Researchers found mutations in the SPT5 gene that disrupt the proper release of paused Pol II, leading to delays in the transition from progenitor to precursor cells in healthy human cells.
- Despite these delays in gene expression and the cell cycle during differentiation, the cells eventually reach terminal differentiation, indicating that Pol II pausing plays a critical role in synchronizing the processes of proliferation and differentiation.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
July 2017
Background: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta-globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Kidney disease is a frequent and potentially severe complication in people with SCD.
View Article and Find Full Text PDFInterventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
October 2016
This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the effectiveness of any intervention in preventing or reducing kidney complications or CKD in people with SCD (including red blood cell transfusions, hydroxyurea and ACEI (either alone or in combination with each other)).
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