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1.
Transl Psychiatry ; 13(1): 397, 2023 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-38104115

RESUMO

Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), but biological characterization of these alleles lags gene discovery, owing to the inaccessibility of live human brain cells and inadequate animal models for human psychiatric conditions. Human-derived induced pluripotent stem cells (iPSCs) provide a renewable cellular reagent that can be differentiated into living, disease-relevant cells and 3D brain organoids carrying the full complement of genetic variants present in the donor germline. Experimental studies of iPSC-derived cells allow functional characterization of risk alleles, establishment of causal relationships between genes and neurobiology, and screening for novel therapeutics. Here we report the creation and availability of an iPSC resource comprising clinical, genomic, and cellular data obtained from genetically isolated families with BD and related conditions. Results from the first 324 study participants, 61 of whom have validated pluripotent clones, show enrichment of rare single nucleotide variants and CNVs overlapping many known risk genes and pathogenic CNVs. This growing iPSC resource is available to scientists pursuing functional genomic studies of BD and related conditions.


Assuntos
Transtorno Depressivo Maior , Células-Tronco Pluripotentes Induzidas , Transtornos Psicóticos , Esquizofrenia , Animais , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Transtorno Depressivo Maior/genética , Transtorno Depressivo Maior/metabolismo , Transtornos Psicóticos/metabolismo , Esquizofrenia/genética , Esquizofrenia/metabolismo , Genômica , Estudo de Associação Genômica Ampla
2.
Braz J Psychiatry ; 43(6): 605-612, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33787758

RESUMO

OBJECTIVE: Decades of research have highlighted the involvement of the prefrontal cortex, anterior cingulated cortex, and limbic areas (amygdala) in panic disorder (PD). However, little attention has been given specifically to the inferior frontal gyrus. The current study aimed to investigate the neural substrates, including the inferior frontal gyrus, of both panic-related and negative conditions among individuals with PD and healthy controls. METHODS: We examined 13 medication-free PD patients and 14 healthy controls with functional magnetic resonance imaging (fMRI) during exposure to negative and neutral pictures and a set of specific panic-related pictures. RESULTS: Subtraction between the conditions indicated activation of the left amygdala region and the right inferior frontal gyrus in PD patients during the specific panic-related condition, whereas the left amygdalar region and left inferior frontal gyrus were activated during the negative condition in controls. CONCLUSION: These results suggest that in patients with PD, a prominent bottom-up process is involved in specific panic-related conditions, which might be associated with weak modulation of the left frontal area. These data add to our current understanding of the neural correlates of PD and can contribute to future clinical interventions targeting the functional reestablishment of these regions.


Assuntos
Transtorno de Pânico , Encéfalo/diagnóstico por imagem , Emoções , Humanos , Imageamento por Ressonância Magnética , Transtorno de Pânico/diagnóstico por imagem , Córtex Pré-Frontal
4.
J Geriatr Phys Ther ; 43(3): 120-127, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-29958232

RESUMO

BACKGROUND AND PURPOSE: The Otago Exercise Program (OEP) is effective at preventing falls and fall-related injuries. The resources and personnel required for program delivery and challenges inherent in monitoring participant adherence and compliance pose significant barriers to increasing the number of older adults participating in the OEP. Alternative delivery systems using virtual platforms may pose a solution. The purposes of this article were to (1) describe the "Stand Tall" intervention, a virtual translation of the OEP; (2) describe Stand Tall participant characteristics and fall-related risk at baseline; and (3) identify changes in physical performance measures associated with fall risk from baseline to 8-week follow-up. METHODS: This was a quasi-experimental, single-group, pretest-posttest design. Forty-two older adults at risk for falls were recruited. Participants were oriented to Stand Tall by study personnel and then monitored and progressed virtually with face to face check-ins. Participants independently logged in and completed a prescribed a set of exercises 3 times a week for 30 minutes for a total of 8 weeks. RESULTS AND DISCUSSION: The average participant age was 75.0 (9.1) years and self-reported 2.3 (1.7) chronic conditions. There were more men than women (52.4%) in the study. Participants were primarily non-Hispanic white (90.5%), had a college education (61.9), 40% reported falling in the past 6 months, and 60% screened positive for mild cognitive impairment. Participants were beginning to show decline in function with average single-leg stance less than 10 seconds and 30-second chair rise scores below normative values. Participants demonstrated high adherence rates (>88%) and significant improvements in physical performance measures associated with fall risk. These results may be limited to a less frail population and the study was not powered to demonstrate a reduction in falls. CONCLUSIONS: Results support that an avatar-delivered version of the OEP is effective, feasible, viable, and enjoyable for community-dwelling older adults. These types of platforms should be considered as potential mechanisms to increase availability of fall prevention programs.


Assuntos
Acidentes por Quedas/prevenção & controle , Terapia por Exercício/métodos , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Vida Independente , Masculino , Equilíbrio Postural
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