Publications by authors named "Fabiana Lopes"

Background: Bipolar disorder (BD) presents with a wide range of symptoms that vary among relatives, casting doubt on categorical illness models. To address this uncertainty, we investigated the heritability and genetic relationships between categorical and dimensional models of BD in a family sample.

Methods: This retrospective study included participants (n = 397 Females, n = 329 Males, mean age 47 yr) in the Amish-Mennonite Bipolar Genetics (AMBiGen) study from North and South America that were assigned categorical mood disorder diagnoses ("narrow" or "broad") by structured psychiatric interview and completed the Mood Disorder Questionnaire (MDQ), which assesses lifetime history of manic symptoms and associated impairment.

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  • Encephalocraniocutaneous lipomatosis (ECCL), or Haberland syndrome, is a rare condition affecting the skin, central nervous system, and eyes, characterized by tumors and other abnormalities.
  • Key symptoms include specific skin lesions, subcutaneous lipomas, and neurological issues like intracranial lipomas and developmental delays.
  • Diagnosis primarily relies on clinical evaluation with possible genetic testing; management is multidisciplinary, focusing on symptom relief and monitoring for potential complications.
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Introduction: Accidents at work are a critical reality in public institutions and, therefore, a highlight of attention and care.

Objectives: To characterize the profile of work-related accidents among professionals at a public university, from 2015 to 2019.

Methods: A quantitative, retrospective, and analytical study on work-related accidents recorded by a worker's health care sector at a public university in the interior of the state of Minas Gerais.

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  • * The study introduces a novel model called In-and-Out Net, which uses Generative Adversarial Networks (GAN) to convert Reflectance Confocal Microscopy (RCM) images into Hematoxylin and Eosin (H&E) stained images, optimizing the visualization of tissue samples.
  • * The research validates the model's effectiveness through a series of analyses and showcases its potential as a valuable tool for enhancing histological image analysis without the typical registration challenges.
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  • * A genome-wide association meta-analysis of nearly 122,000 ANX cases revealed 58 significant genetic variants and 66 related genes, with many of these findings replicated in a larger independent sample.
  • * The findings indicate a substantial genetic overlap between ANX and other conditions like depression, emphasizing GABAergic signaling as a key mechanism, thereby enhancing our understanding of the genetic basis of ANX for future research.
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Virtual staining streamlines traditional staining procedures by digitally generating stained images from unstained or differently stained images. While conventional staining methods involve time-consuming chemical processes, virtual staining offers an efficient and low infrastructure alternative. Leveraging microscopy-based techniques, such as confocal microscopy, researchers can expedite tissue analysis without the need for physical sectioning.

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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.

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The regulation of the hypothalamic-pituitary-adrenal (HPA) axis is associated with polymorphisms and the methylation degree of the glucocorticoid receptor gene () and is potentially involved in the development of metabolic syndrome (MetS). In order to evaluate the association between MetS with the polymorphisms, methylation, and gene expression of the in the genetically isolated Brazilian Mennonite population, we genotyped 20 polymorphisms in 74 affected (MetS) and 138 unaffected individuals without affected first-degree relatives (Co), using exome sequencing, as well as five variants from non-exonic regions, in 70 MetS and 166 Co, using mass spectrometry. The methylation levels of 11 1F CpG sites were quantified using pyrosequencing (66 MetS and 141 Co), and the expression was evaluated via RT-qPCR (14 MetS and 25 Co).

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Background: Bipolar disorder (BD) presents with a wide range of symptoms that vary among relatives, casting doubt on categorical illness models. To address this uncertainly, we investigated the heritability and genetic relationships between categorical and dimensional models of BD in a family sample.

Methods: Participants in the Amish-Mennonite Bipolar Genetics (AMBiGen) study were assigned categorical mood disorder diagnoses by structured psychiatric interview and completed the Mood Disorder Questionnaire (MDQ), which assesses lifetime history of manic symptoms and associated impairment.

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  • Genome-wide association studies (GWAS) have identified many risk loci for mood disorders, but understanding the mechanisms is challenging due to small effects of common variants.
  • A study of the Old Order Amish population, with 1,672 participants, found four significant risk loci linked to over 2-fold increased risk of mood disorders.
  • The analysis indicated that these loci contain novel genes interacting with known neuropsychiatric ones, revealing key variants in genes CUX1 and CNOT1 related to neurodevelopment, thus enhancing our understanding of mood disorders' genetic basis.
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Many barriers to care exist for vitiligo patients that can impact patients' quality of life. Because early treatment of vitiligo is more efficacious, we investigated the factors associated with delay to treatment via a retrospective chart review of 102 consecutive patients attending an academic outpatient clinic over a 36-month time frame. Demographic information, clinical characteristics of vitiligo, and treatment details were obtained via a standardized questionnaire given to all patients with vitiligo.

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  • Raman spectroscopy (RS) helps in diagnosing skin cancer during Mohs micrographic surgery, but its accuracy is affected by similarities between tumors and normal tissue.
  • This study aims to enhance RS specificity for basal cell carcinoma (BCC) by using a deep learning model trained on reflectance confocal microscopy (RCM) images to differentiate between normal skin structures and tumors.
  • The results show that integrating RCM with RS improved the specificity of BCC detection from 84.2% to 92.4%, while maintaining perfect sensitivity.
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  • Atopic dermatitis (AD) is a widespread chronic condition in children, often managed by primary care providers, but sometimes requiring dermatology specialists.
  • A survey of 50 caregivers revealed that while they felt both PCPs and specialists listened to their concerns, many believed that specialists offered better care for managing AD.
  • The study suggests that earlier and more frequent referrals to dermatology specialists might benefit children with AD, indicating a need for further research on access to care based on race and ethnicity.
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  • The study aimed to evaluate how reliable and valid remote assessments of atopic dermatitis severity are, using caregiver-provided photos (p-EASI) and videos (v-EASI) compared to traditional in-person evaluations.
  • A group of 50 children with varying severity of atopic dermatitis had their skin condition assessed by caregivers through photos and videos, and by clinicians using in-person ratings.
  • Results showed that p-EASI demonstrated strong reliability and validity, while v-EASI had moderate reliability, indicating both methods could be useful for assessing atopic dermatitis remotely.
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Importance: Ultraviolet radiation exposure is an important modifiable risk factor for keratinocyte carcinoma (KC) in fair-skinned non-Hispanic White populations; however, the evidence for this relationship in darker-skinned populations is less certain.

Objective: To assess and synthesize the published data concerning the association between UV exposure and the risk of KC in individuals with skin of color.

Evidence Review: PubMed, Cochrane, and Web of Science databases were searched from database origin through January 2022.

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Significance: Sub-diffuse optical properties may serve as useful cancer biomarkers, and wide-field heatmaps of these properties could aid physicians in identifying cancerous tissue. Sub-diffuse spatial frequency domain imaging (sd-SFDI) can reveal such wide-field maps, but the current time cost of experimentally validated methods for rendering these heatmaps precludes this technology from potential real-time applications.

Aim: Our study renders heatmaps of sub-diffuse optical properties from experimental sd-SFDI images in real time and reports these properties for cancerous and normal skin tissue subtypes.

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Most atopic dermatitis (AD) patients are managed by primary care providers (PCPs). PCP discomfort diagnosing and managing AD leads to suboptimal patient outcomes. In order to determine the efficacy of interventions aimed at improving PCP management of AD, a systematic literature review was performed for interventions to improve primary care management of AD.

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Objective: COVID-19 pandemic has been a stressful condition. We explored life changes and health-related consequences of COVID-19 outbreak in Italian healthcare workers in comparison to the general population.

Methods: A total of 593 subjects participated to the online CoRonavIruS Health Impact Survey.

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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.

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Importance: While current evidence supports UV exposure as an important risk factor for cutaneous melanoma in fair-skinned populations, the evidence for this association in skin of color is less certain.

Objective: To critically assess and synthesize the published data regarding the association between UV exposure and the risk of cutaneous melanoma in skin of color.

Evidence Review: A search was conducted including PubMed, Cochrane, and Web of Science databases from database origin to June 3, 2020.

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The Mennonite population suffered several bottlenecks due to religious/political persecution, increasing the frequency of diseases with a strong genetic component. We evaluated health self-perception in 430 Mennonites from South Brazilian settlements (two rural, one urban), along with life habits, xenobiotic exposure, and chronic ilnesses, using a modified version of the 2013 Brazilian National Health Survey and eight psychometric tests (applied in 2016-2018). Mennonites from rural settlements considered their health worse (P < 0.

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Chikungunya fever (CHIK) has caused important epidemic outbreaks in the Americas, with musculoskeletal involvement being the main manifestation, causing chronic symptoms in half of the affected patients. This study was performed to evaluate the clinical course of the infection in 168 patients with autoimmune inflammatory disease using biological disease-modifying antirheumatic drugs (bDMARDs), comparing this group with 56 household controls. Anti-CHIKV IgG serology was positive in 42 (25%) of the patients in the bDMARD group and in 15 (27%) of the controls (=0.

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