Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic syndromes and computer-assisted facial phenotyping is a promising approach to assist diagnosis. Most previous approaches to automated face-based syndrome diagnosis have analyzed different datasets of either 2D images or surface mesh-based 3D facial representations, making direct comparisons of performance challenging. In this work, we developed a set of subject-matched 2D and 3D facial representations, which we then analyzed with the aim of comparing the performance of 2D and 3D image-based approaches to computer-assisted syndrome diagnosis. This work represents the most comprehensive subject-matched analyses to date on this topic. In our analyses of 1907 subject faces representing 43 different genetic syndromes, 3D surface-based syndrome classification models significantly outperformed 2D image-based models trained and evaluated on the same subject faces. These results suggest that the clinical adoption of 3D facial scanning technology and continued collection of syndromic 3D facial scan data may substantially improve face-based syndrome diagnosis.
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http://dx.doi.org/10.1038/s41431-023-01308-w | DOI Listing |
Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFActa Clin Belg
January 2025
Erzurum Regional Training and Research Hospital, Department of Emergency Medicine, Erzurum, Turkey.
Objectives: In this study, the capacity of End-tidal carbon dioxide (EtCO2) levels to predict the risk of major cardiovascular events (MACE) in patients diagnosed with acute coronary syndrome and the relationship between risk scoring systems (TIMI, GRACE, HEART) and EtCO2 values were examined.
Methods: EtCO2 values of the patients in the study were measured with a capnography device. Each patient's MACE status was recorded.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
JAMA Neurol
January 2025
Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Importance: Autoantibodies targeting astrocytes, such as those against glial fibrillary acidic protein (GFAP) or aquaporin protein 4, are crucial diagnostic markers for autoimmune astrocytopathy among central nervous system (CNS) autoimmune disorders. However, diagnosis remains challenging for patients lacking specific autoantibodies.
Objective: To characterize a syndrome of unknown meningoencephalomyelitis associated with an astrocytic autoantibody.
Rheumatol Int
January 2025
Department of Rheumatology, Clinical Immunology, Geriatrics and Internal Medicine, Medical University of Gdansk, Gdansk, Poland.
Sjogren's disease (SjD) is a chronic and disabling autoimmune disease, predominantly characterized by dryness of the mouth and eyes, resulting from lymphocytic infiltration of exocrine glands. While these are the most prominent symptoms, extra-glandular manifestations are also common. Studies suggest that up to 70% of SjD patients experience neurological symptoms, which interestingly often precede the hallmark dryness.
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