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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Jul 01, 2022
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Association of Molecular Senescence Markers in Late-Life Depression With Clinical Characteristics and Treatment Outcome.
Diniz Breno S et al. JAMA network open 2022 6 (6) e2219678

Are markers associated with the senescence-associated secretory phenotype (SASP) associated with treatment remission in older adults with major depressive episode? In this nonrandomized clinical trial of 416 participants, higher SASP index, a composite score of 22 biomarkers associated with the SASP, was significantly associated with lower likelihood of remission to antidepressant treatment.

Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.
Raznahan Armin et al. JAMA psychiatry 2022 6

Rare genetic disorders modulating gene expression—as exemplified by gene dosage disorders (GDDs)—represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect sizes and a known genetic basis. Moreover, the prevalence of recurrent GDDs (encompassing aneuploidies and certain copy number variations) enables genetic-first phenotypic characterization of the same GDD across multiple individuals, thereby offering a unique window into genetic influences on the human brain and behavior.

Multimodal deep learning for Alzheimer’s disease dementia assessment
S Qiu et al, Nature Comms, June 20, 2022

We report a deep learning framework that accomplishes multiple diagnostic steps in successive fashion to identify persons with normal cognition (NC), mild cognitive impairment (MCI), AD, and non-AD dementias (nADD). We demonstrate a range of models capable of accepting flexible combinations of routinely collected clinical information, including demographics, medical history, neuropsychological testing, neuroimaging, and functional assessments. We then show that these frameworks compare favorably with the diagnostic accuracy of practicing neurologists.

Watching Parkinson’s disease with wrist-based sensors
JA Diao et al, NPJ Digital Medicine, June 13, 2022

Parkinson’s disease (PD) lacks sensitive, objective, and reliable measures for disease progression and response. This presents a challenge for clinical trials given the multifaceted and fluctuating nature of PD symptoms. Innovations in digital health and wearable sensors promise to more precisely measure aspects of patient function and well-being. Beyond research trials, digital biomarkers and clinical outcome assessments may someday support clinician-initiated or closed-loop treatment adjustments.

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