Medical bulletin 26/ September/ 2024
Here are the top medical news for the day:
How Do Initial Symptoms of MS Have Impact on Long Run Disability?
In a significant advance for multiple sclerosis (MS) research, a new study has uncovered a potential link between certain initial symptoms and long-term disability outcomes. The research was published in the latest issue of Brain Medicine (Genomic Press, New York)
Led by Dr. João Pedro F. Gonçalves from the Federal University of Bahia, Brazil, the study analyzed data from 195 multiple sclerosis patients, focusing on their symptoms at disease onset and subsequent functional outcomes. The team's findings challenge some previously held beliefs about multiple sclerosis progression and open up new avenues for personalized treatment approaches.
"Our research indicates that patients who experience acute blurry vision or sphincter dysfunction when first diagnosed with multiple sclerosis may be at higher risk for developing more severe disability over time," explains Dr. Gonçalves. "This information could be crucial for healthcare providers in determining initial treatment strategies and monitoring protocols."
Key findings of the study include:
- Patients presenting with acute blurry vision at onset had 20% higher odds of worse functional outcomes.
- Those experiencing sphincter dysfunction (such as bladder or bowel issues) at onset had 24.5% higher odds of developing more severe disability.
- Contrary to some previous studies, symptoms like acute paralysis and hypoesthesia were not independent predictors of worse outcomes in the long term.
The study utilized the Expanded Disability Status Scale (EDSS), a widely recognized tool for quantifying disability in multiple sclerosis patients. This approach allowed the researchers to correlate initial symptoms with long-term functional status objectively.
The findings prompt consideration of how this knowledge might be integrated into current multiple sclerosis treatment guidelines.
The study also highlights the complex interplay between various multiple sclerosis symptoms and their impact on patient’s quality of life. While some symptoms like acute paralysis might seem more severe initially, the research suggests that less obvious issues like blurry vision or bladder dysfunction could be more predictive of long-term challenges.
"These findings could potentially reshape how we approach initial MS treatment decisions," notes Dr. Gonçalves. "By identifying patients at higher risk for severe disability early on, we may be able to intervene more aggressively and potentially alter the disease course."
Reference: " The association of different acute manifestations of multiple sclerosis on functional outcome " will be published in Brain Medicine on September 24, 2024. It will be freely available online at https://bm.genomicpress.com/aop/
Are You at Risk? New Study Reveals Hidden Cancer Dangers in Your Genes
Researchers have identified thousands of genetic variants in a gene that could raise an individual's risk of ovarian and breast cancer, opening the door to more accurate risk assessment and individualized treatment.
With a focus on the "cancer protection" gene RAD51C, researchers from the Wellcome Sanger Institute and their partners discovered over 3,000 deleterious genetic alterations that may interfere with its function and raise the risk of aggressive subtypes of breast cancer four times as well as ovarian cancer six times. Data analysis from extensive health databases validated these conclusions.
The results, can be utilized right away to assist medical professionals and diagnostic laboratory scientists in more accurately estimating the risk of cancer, particularly in those with a family history of malignancies.
The study also identified regions of the protein essential for its function, pointing to new roles in cancer development and potential therapeutic targets.
The RAD51C gene encodes a protein crucial for DNA repair. Variants in this gene that stop the protein from working are known to increase the risk of breast and ovarian cancers and rarely, if there are two harmful gene changes are present, may result in Fanconi Anaemia, a severe genetic disorder. Women with a faulty RAD51C gene face a 15 to 30 per cent lifetime risk of developing breast cancer and a 10 to 15 per cent risk of developing ovarian cancer.
In this new study, researchers from the Wellcome Sanger Institute and their collaborators set out to understand the effect of 9,188 unique changes in the RAD51C gene by artificially altering the genetic code of human cells grown in a dish, in a process known as 'saturation genome editing'. They identified 3,094 of these variants that may disrupt the gene's function and increase cancer risk, with an accuracy above 99.9 per cent when compared to clinical data.
By mapping the protein structure, the team also identified crucial surface areas of RAD51C essential for its DNA repair function. These regions may interact with other, yet-to-be-identified proteins or play a role in processes such as phosphorylation, offering valuable insights for drug development and potential new treatment targets.
The study also revealed the existence of 'hypomorphic alleles' - a type of variant that reduces the RAD51C gene's function without completely disabling it. These appear to be more common than previously thought and may significantly contribute to breast and ovarian cancer risk.
Rebeca Olvera-Leon, first author of the study at the Wellcome Sanger Institute, said: "This research demonstrates that genetic risk for breast and ovarian cancer isn't a simple yes-or-no scenario, but exists on a spectrum based on how genetic changes affect protein function. With a more comprehensive understanding of how RAD51C genetic variants contribute to cancer risk, this opens up new possibilities for more accurate risk prediction, prevention strategies, and potentially targeted therapies."
Dr Andrew Waters, co-senior author of the study at the Wellcome Sanger Institute, said: "This work demonstrates the power of analysing genetic variants on a large scale within their genomic context. Not only can we understand how cancer-related DNA changes affect patients, helping with clinical decisions, but we can also explore how these variants impact the gene's function at a detailed molecular level. This provides important insights into how proteins work and how genes evolve over time."
Reference: Olvera-León, R., Zhang, F., Offord, V., Zhao, Y., Tan, H. K., Gupta, P., ... & Adams, D. J. (2024). High-resolution functional mapping of RAD51C by saturation genome editing. Cell.
Magnesium Sulphate Infusion May Prevent Cerebral Palsy in Premature Babies: Cochrane Review
Giving women at risk of premature birth a simple magnesium sulphate infusion (or ‘drip’) can prevent their babies from developing cerebral palsy, a recent Cochrane review has confirmed. A new editorial calls for this intervention to be implemented more widely and equitably, as it is still not consistently available worldwide.
“Preterm birth is the leading cause of brain injury and cerebral palsy with lifelong impact on children and families,” says Karen Luyt, Professor in Neonatal Medicine at the University of Bristol. “When the Cochrane meta-analysis was published in 2009, I realised that magnesium sulphate, given to mothers in preterm labour, was a potential game changer. The first effective neuroprotective treatment for preterm babies, preventing cerebral palsy by around 30%. We were early adopters at St Michael’s Hospital (University Hospitals Bristol & Weston NHS Trust).
Following correspondence with the Cochrane authors, Karen began implementing the findings in her own hospital through a programme called PReCePT (prevention of cerebral palsy in pre-term labour). Supported by Health Innovation West of England and co-designed by parents and maternity ward staff, the programme provides practical tools and training to ensure eligible mothers are offered magnesium sulphate.
The widespread use of this life-changing treatment was made possible by the original Cochrane review led by Professors Lex Doyle and Caroline Crowther, published in 2009.
Karen worked alongside clinicians around the world to develop materials to help people in lower-resource settings to implement magnesium sulphate alongside other interventions to help premature babies. In her new editorial in the Cochrane Library, she urges increased global uptake and implementation research in lower-resource settings.
“Reference: Shepherd, E. S., Goldsmith, S., Doyle, L. W., Middleton, P., Marret, S., Rouse, D. J., ... & Crowther, C. A. (2024). Magnesium sulphate for women at risk of preterm birth for neuroprotection of the fetus. Cochrane Database of Systematic Reviews, (5).
High Sensitivity Troponin Test Demonstrates Better Diagnostic Accuracy in Acute Coronary Syndrome Cases: Systematic Review Reveals
High sensitivity troponin shows promise in diagnosing acute coronary syndrome in primary care settings. The findings were published in the Annals of Family Medicine.
Chest pain can be caused by both serious conditions and more benign issues. The present study assessed the effectiveness of various risk stratification tools, including clinical decision rules and troponin tests, in helping general practitioners rule out acute coronary syndrome in patients with chest pain.
Researchers conducted a systematic review of studies involving adult patients presenting with chest pain in primary care settings. The review included studies that examined the diagnostic accuracy of different clinical decision rules and troponin point-of-care tests, both conventional and high-sensitivity, in identifying acute coronary syndrome, which includes heart attacks. The study compared these tools to the unaided clinical judgment of general practitioners.
14 studies were included in the final review.
• Some of the clinical decision rules without troponin improved safety. However, none consistently outperformed unaided general practitioner judgment in ruling out acute coronary syndrome.
• Conventional troponin as a standalone test did not meet the desired diagnostic accuracy, making the tests less reliable in primary care settings.
• High-sensitivity troponin tests demonstrated the highest diagnostic accuracy. However, this finding requires further prospective validation in primary care before it can be recommended for widespread use.
Although high-sensitivity troponin tests hold promise, they are not yet ready to replace clinical judgment or be used independently in primary care settings without further validation.
Reference: van den Bulk, S., Manten, A., Bonten, T. N., & Harskamp, R. E. (2024). Chest pain in primary care: A systematic review of risk stratification tools to rule out acute coronary syndrome. The Annals of Family Medicine, 22(5), 426-436. https://doi.org/10.1370/afm.3141
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