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Oct 03, 2022

Last Posted: Oct-03-2022 08:11:01

ALS therapy hits molecular mark but misses clinical one
K O'Leary, Nature Medicine, October 3, 2022

At week 24, those receiving tofersen showed a reduction in concentrations of toxic SOD1 protein and markers of neuronal injury. Despite this, there was no significant difference in the primary endpoint — the rate of functional decline (according to the ALS Functional Rating Scale-Revised) – between the tofersen group (-6.98 points) and the placebo group (-8.14 points).

To prevent unnecessary biopsies, scientists train an AI model to predict breast cancer risk from MRI scans
JW Lee, Stat News, October 3, 2022

In a new paper, Witowski and his colleagues at NYU and Jagiellonian University in Poland present an artificial intelligence tool that can predict the probability of breast cancer in MRI scans as well as a panel of board-certified radiologists. In a retrospective analysis, it was also capable of reducing unnecessary biopsies by up to 20% for patients whose MRIs show suspicious lesions that might warrant a biopsy, officially known as BI-RADS category 4 lesions.

Two Factors to ID Men at Highest Risk for Prostate Cancer Death
R Nelson, Medscape, September 2022

A family history of prostate cancer has long been one of the few universally accepted risk factors for the disease. New findings now provide evidence that risk stratification based on family history and inherited polygenic risk can identify men at highest risk of dying from the disease before age 75. Men in the upper quartile of polygenic risk score or who had a family history of prostate or breast cancer accounted for close to 100% of prostate cancer deaths by age 75. This strategy can also identify men at low risk for prostate cancer, potentially sparing them from intensive prostate cancer screening.

Sickle Cell Disease and Gene Therapy — Patient and Physician Perspectives
NEJM, Youtube video, Septenber 2022

In this short documentary video from the New England Journal of Medicine (NEJM), patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy.

A deep learning model for detection of Alzheimer's disease based on retinal photographs: a retrospective, multicentre case-control study
CY Cheung et al, The Lancet Digital Health, September 30, 2022

12?949 retinal photographs from 648 patients with Alzheimer's disease and 3240 people without the disease were used to train, validate, and test the deep learning model. In the internal validation dataset, the deep learning model had 83·6% (SD 2·5) accuracy, 93·2% (SD 2·2) sensitivity, 82·0% (SD 3·1) specificity, and an area under the receiver operating characteristic curve (AUROC) of 0·93 (0·01) for detecting Alzheimer's disease-dementia.

Artificial intelligence for detection of Alzheimer's disease: demonstration of real-world value is required to bridge the translational gap
CR Marshall et al, The Lancet Digital Health, September 30, 2022

The wide availability of retinal photography could, in principle, support detection of Alzheimer's disease at population level, allowing earlier access to support and treatment. This raises important questions that have yet to be resolved around what constitutes a timely diagnosis of Alzheimer's disease, and how effectively earlier detection improves quality of life, prognosis, and future health-care resource requirements.

Addressing racial disparities in surgical care with machine learning
J Halamka et al, NPJ Digital Medicine, September 30, 2022

While inequalities will require numerous cultural, ethical, and sociological solutions, artificial intelligence-based algorithms may help address the problem by detecting bias in the data sets currently being used to make medical decisions. However, such AI-based solutions are only in early development.


Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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