Introduction: Thalidomide causes congenital defects in children, such as limb reduction defects. Currently, it is used for a few indications; in Brazil, where leprosy is endemic, thalidomide is used for the treatment of erythema nodosum leprosum, and recent cases of thalidomide embryopathy have been reported.
Methods: We analyzed the frequency of births with phenotypes consistent with thalidomide embryopathy (TEP) and correlated this with the distribution of thalidomide and the prevalence of leprosy between 2005 and 2010 in Brazil.
Results: A total of 5,889,210 thalidomide tablets were distributed; the prevalence of limb reduction defects was 1.60 (CI95%: 1.54-1.66) and TEP was 0.11 (CI95%: 0.10-0.13) per 10,000 births. Poisson regression showed an increase in cases of TEP and limb reduction defects per 100,000 tablets dispensed. Clusters and geographical isolates were identified in several regions.
Conclusions: There is a correlation between thalidomide and TEP showing that thalidomide embryopathy should be monitored in countries where this medication is available.
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Article Synopsis
- Individuals with thalidomide embryopathy, now around 60 years old, have been coping with physical challenges due to limb development issues and experience secondary problems like pain.
- Previous studies on their skeletal issues through imaging have mainly focused on younger individuals, with limited research on older adults.
- This study used advanced imaging techniques to analyze the skeletons of five older individuals with thalidomide embryopathy, revealing issues such as joint dislocation, osteoarthritis, and abnormal bone development that likely contribute to their upper limb pain.
Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.
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Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.
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- Roberts syndrome (RBS) is a genetic disorder that leads to severe growth delays and limb reduction due to mutations in the ESCO2 gene.* -
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Division of Gastroenterology and Hepatology, Oregon Health and Science University, Portland, Oregon.
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Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.
Int J Mol Sci
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Implementing Sustainable Evidence-Based Interventions through Engagement (ISEE) Lab, Department of Global and Environmental Health, School of Global Public Health, New York University, New York, NY 10003, USA.
In this short review we have presented and discussed studies on pharmacogenomics (also termed pharmacogenetics) of the drugs employed in the treatment of β-thalassemia or Sickle-cell disease (SCD). This field of investigation is relevant, since it is expected to help clinicians select the appropriate drug and the correct dosage for each patient. We first discussed the search for DNA polymorphisms associated with a high expression of γ-globin genes and identified this using GWAS studies and CRISPR-based gene editing approaches.
View Article and Find Full Text PDFThe impact of ageing on the health and wellbeing of people with thalidomide embryopathy: a comparison of the health impact with the general population.
Disabil Rehabil
October 2024
Thalidomide Trust, Saint Neots, UK.
Purpose: As people living with thalidomide embryopathy (TE) are now entering their seventh decade, we examine the impact of ageing and the prevalence of comorbid health conditions reported in holistic needs assessments (HNAs) by individuals with TE, compare it with an age-matched sample of the general population, and explore the relationship between comorbidities and TE pattern of impairment.
Materials And Methods: The HNA categories were mapped and compared to those of the Health Survey for England (HSE) and analysed across four impairment groups (A-D).
Results: 94% (392/415) of individuals with TE residing in the UK participated in the HNA and consented to a secondary analysis of the data.
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