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Last Posted: Dec 06, 2023
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AI detects eye disease and risk of Parkinson's from retinal images.
Mariana Lenharo et al. Nature 2023 9

From the article: " Scientists have developed an artificial intelligence (AI) tool capable of diagnosing and predicting the risk of developing multiple health conditions — from ocular diseases to heart failure to Parkinson’s disease — all on the basis of people’s retinal images. AI tools have been trained to detect disease using retinal images before, but what makes the new tool — called RETFound — special is that it was developed using a method known as self-supervised learning. That means that the researchers did not have to analyse each of the 1.6 million retinal images used for training and label them as ‘normal’ or ‘not normal’, for instance. "

Association of Longer Leukocyte Telomere Length With Cardiac Size, Function, and Heart Failure
N Aung et al, JAMA Cardiology, July 26, 2023

Is leukocyte telomere length (LTL) associated with alterations in cardiovascular structure and function? In this cross-sectional study including 40 459 UK Biobank participants, longer LTL was associated with higher left ventricular mass, larger ventricular and atrial sizes, and higher stroke volumes. Mendelian randomization analysis demonstrated a potential causal genetic association between LTL and left ventricular mass, ventricular size, and left ventricular stroke volume, and longer LTL was associated with a lower risk of incident heart failure after accounting for potential confounders.

Transthyretin Cardiac Amyloidosis: Underrecognized in the Underrepresented.
Douglas J Leedy et al. J Am Heart Assoc 2023 7 e030802

Over the past decade, transthyretin cardiac amyloidosis (ATTR-CM) has rapidly emerged as an increasingly diagnosed cause of heart failure (HF) among older adults, predominantly those with HF with preserved ejection fraction. Although still frequently classified as a rare disease, there is mounting evidence that ATTR-CM is not as “rare” as it has been historically described. Because of the development of effective disease-modifying therapies, such as transthyretin stabilizers, early and accurate identification of ATTR-CM is essential.

Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.
Avni Madhani et al. J Am Heart Assoc 2023 7 e028973

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF) among patients =60?years of age. Although the V122I (valine to isoleucine substitution at position 122 of the transthyretin protein) variant associated with hereditary ATTR-CM is present in 3.4% of self-identified Black individuals in the United States (or 1.5?million people), the phenotypic penetrance is not known. In this study, among older Black individuals with HF and increased left ventricular wall thickness, of those with ATTR-CM, 63% had wild-type, and of those with V122I, the phenotypic penetrance of ATTR-CM was 39% (95% CI, 17–64), suggesting that genotype alone is insufficient for diagnosis.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.