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1.
Mol Psychiatry ; 27(1): 502-513, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34290370

RESUMO

Stress is defined as a state of threatened homeodynamic balance by a wide range of intrinsic or extrinsic, real or perceived challenges or stimuli, defined as stressors. To preserve this optimal homeodynamic state within a physiologic range, organisms have developed a highly sophisticated system, the stress system, which serves self-regulation and adaptability of the organism by energy redirection according to the current needs. Repeated, ephemeral, and motivating stress states lead to adaptive responses and response habituations, being fairly beneficial; in contrast, inadequate, aversive, excessive, or prolonged stress may surpass the regulatory capacity and adjustive resources of the organism and produce maladaptive responses and a chronically altered homeodynamic state associated with compromised mental and physical health and life expectancy. Neuroendocrine responses to stress depend on developmental timing, duration, time of day and nature of stressors leading to a vulnerable phenotype with disrupted stress reactivity (i.e., hyper- or hypoactivation of the stress system), impaired glucocorticoid signaling, and accumulated cacostatic load with cumulatively elevated long-term risk of mental and physical morbidity. This article offers a brief overview on the organization and physiology of the human stress system and its (re)activity, refreshes the plethora of somatic effects of acute and chronic stress and discusses a conceptual model of acute and chronic stress pathophysiology as a continuum in chronic disease development.


Assuntos
Neuroendocrinologia , Estresse Fisiológico , Doença Crônica , Glucocorticoides , Humanos , Sistemas Neurossecretores , Estresse Fisiológico/fisiologia , Estresse Psicológico
2.
Neuroendocrinology ; 113(2): 120-167, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36137504

RESUMO

Extracellular vesicles (EVs) are membrane-enclosed nanoparticles that contain various biomolecules, including nucleic acids, proteins and lipids, and are manufactured and released by virtually all cell types. There is evidence that EVs are involved in intercellular communication, acting in an autocrine, paracrine or/and endocrine manner. EVs are released by the cells of the central nervous system (CNS), including neurons, astrocytes, oligodendrocytes and microglia, and have the ability to cross the blood-brain barrier (BBB) and enter the systemic circulation. Neuroendocrine cells are specialized neurons that secrete hormones directly into blood vessels, such as the hypophyseal portal system or the systemic circulation, a process that allows neuroendocrine integration to take place. In mammals, neuroendocrine cells are widely distributed throughout various anatomic compartments, with the hypothalamus being a central neuroendocrine integrator. The hypothalamus is a key part of the stress system (SS), a highly conserved neuronal/neuroendocrine system aiming at maintaining systemic homeostasis when the latter is threatened by various stressors. The central parts of the SS are the interconnected hypothalamic corticotropin-releasing hormone (CRH) and the brainstem locus caeruleus-norepinephrine (LC-NE) systems, while their peripheral parts are, respectively, the pituitary-adrenal axis and the sympathetic nervous/sympatho-adrenomedullary systems (SNS-SAM) as well as components of the parasympathetic nervous system (PSNS). During stress, multiple CNS loci show plasticity and undergo remodeling, partly mediated by increased glutamatergic and noradrenergic activity, and the actions of cytokines and glucocorticoids, all regulated by the interaction of the hypothalamic-pituitary-adrenal (HPA) axis and the LC-NE/SNS-SAM systems. In addition, there are peripheral changes due to the increased secretion of stress hormones and pro-inflammatory cytokines in the context of stress-related systemic (para)inflammation. We speculate that during stress, central and peripheral, cellular and molecular alterations take place, with some of them generated, communicated, and spread via the release of stress-induced neural/neuroendocrine cell-derived EVs.


Assuntos
Vesículas Extracelulares , Sistema Hipotálamo-Hipofisário , Animais , Sistema Hipotálamo-Hipofisário/metabolismo , Sistemas Neurossecretores/metabolismo , Hormônio Adrenocorticotrópico/metabolismo , Norepinefrina/metabolismo , Vesículas Extracelulares/metabolismo , Citocinas/metabolismo , Sistema Hipófise-Suprarrenal , Estresse Fisiológico , Hormônio Liberador da Corticotropina/metabolismo , Mamíferos/metabolismo
3.
Horm Metab Res ; 55(12): 813-818, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37820693

RESUMO

The human microbiome plays an integral role in health. In particular, it is important for the development, differentiation, and maturation of the immune system, 70% of which resides in the intestinal mucosa. Microbiome studies conducted to date have revealed an association between disturbances in the microbiota (dysbiosis) and various pathological disorders, including changes in host immune status. Autoimmune thyroid diseases are one of the most common organ-specific autoimmune disorders, with a worldwide prevalence higher than 5%. The predominant autoimmune thyroid diseases are Hashimoto's thyroiditis and Grave's disease. Several factors, such as genetic and environmental ones, have been studied. In accordance with recent studies, it is assumed that the gut microbiome might play a significant role in triggering autoimmune diseases of the thyroid gland. However, the exact etiology has not yet been elucidated. The present review aims to describe the work carried out so far regarding the role of gut microflora in the pathogenesis of autoimmune thyroid diseases and its involvement in the appearance of benign nodules and papillary thyroid cancer. It appears that future work is needed to elucidate more precisely the mechanism for gut microbiota involvement in the development of autoimmune thyroid diseases.


Assuntos
Doenças Autoimunes , Microbioma Gastrointestinal , Doença de Hashimoto , Doenças da Glândula Tireoide , Neoplasias da Glândula Tireoide , Humanos
4.
Br J Nutr ; : 1-12, 2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37197939

RESUMO

The study aimed to assess the total prevalence of functional gastrointestinal disorders (FGID), and separately, irritable bowel syndrome (IBS) among adults and to determine their potential association with fructose consumption. Data from the Hellenic National Nutrition and Health Survey were included (3798 adults; 58·9 % females). Information regarding FGID symptomatology was assessed using self-reported physician diagnosis questionnaires the reliability of which were screened using the ROME III, in a sample of the population. Fructose intake was estimated from 24 h recalls, and the MedDiet score was used to assess adherence to the Mediterranean diet. The prevalence of FGID symptomatology was 20·2 %, while 8·2 % had IBS (representing 40·2 % of total FGID). The likelihood of FGID was 28 % higher (95 %CI: 1·03-1·6) and of IBS 49 % (95 %CI: 1·08-2·05) in individuals with higher fructose intake than with lower intake (3rd tertile compared with 1st). When area of residence was accounted for, individuals residing in the Greek islands had a significantly lower probability of FGID and IBS compared with those residing in Mainland and the main Metropolitan areas, with Islanders also achieving a higher MedDiet score and lower added sugar intake, comparatively to inhabitants of the main metropolitan areas. FGID and IBS symptomatology was most prominent among individuals with higher fructose consumption, and this was most conspicuous in areas with a lower Mediterranean diet adherence, suggesting that the dietary source of fructose rather than total fructose should be examined in relation to FGID.

5.
Adv Exp Med Biol ; 1423: 181-186, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525042

RESUMO

INTRODUCTION: Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal structures, such as hair, nails, teeth, and sweat glands. We report here the clinical and molecular genetic analysis of five Greek families with different types of ectodermal dysplasia (ED). SUBJECTS: The study involved 15 individuals from 5 Greek families that included 8 ED patients, 5 carriers of recessive X-linked or autosomal ED, and 2 healthy relatives. After genetic counseling, the parents signed an informed consent form before subsequent genetic testing. METHODS: Genomic DNA was isolated from white blood cells of all studied individuals. The search for mutations was realized in patients' DNA samples using next-generation sequencing (NGS) gene panel, whole exome sequencing (WES), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: The clinical diagnosis of common X-linked recessive hypohidrotic ectodermal dysplasia (HED) was suspected in five male patients with partial anodontia of baby and permanent teeth, hypohidrosis, and thin hair from three families. All HED patients were hemizygous for deletions in the EDA1 gene (Xq13.1): three related patients had a 20 bp deletion, one had a 19 bp deletion, and one had a 180 bp deletion. A female patient had the rare autosomal dominant syndrome of ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) caused by heterozygous missense mutation in the TP63 gene (3q28) that appeared de novo. Two siblings with hypotrichosis and hypodontia, a female and a male, had two pathogenic mutations in compound heterozygosity in the TSPEAR gene (21q22.3); therefore they presented with ectodermal dysplasia type 14 (ECTD14). CONCLUSION: Clinical and molecular genetic analysis may set an accurate diagnosis of different types of ED. In the reported families, genetic diagnosis and genetic counselling assisted the parents to view their children's condition realistically and to cooperate with the specialists who will contribute to the best possible treatment for their children.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Criança , Lactente , Humanos , Masculino , Feminino , Fenda Labial/genética , Fissura Palatina/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Mutação , Biologia Molecular , Linhagem
6.
Adv Exp Med Biol ; 1423: 187-191, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525043

RESUMO

Craniofacial development is a complex process involving several signaling pathways, including the one regulated by the TGF-beta (TGF-ß) superfamily of growth factors. Isoforms of TGF-ß play a vital part in embryonic development, notably in craniofacial patterning. Consequently, pathogenic variants in their coding genes may result in a variety of orofacial and craniofacial malformations. Here, we review the impact of genetic variability of TGF-ß signaling biomarkers in major disorders, including palatal and lip clefts, dental anomalies, and craniofacial syndromes, such as the Loeys-Dietz syndrome (LDS) and Camurati-Engelmann disease. Cleft lip and cleft palate are associated with missense mutations in the TGFB1 and TGFB3 genes, while mutations in the LTBP3 gene encoding TGF-ß binding protein 3 may cause selective tooth agenesis. Oligodontia may also be caused by TGFB1-inactivating mutations and/or by variations in the GREM2 gene, which disrupt the activity of gremlin 2, a TGF-ß/bone morphogenetic protein (BMP4) signaling antagonist. CED may be caused by mutations in the TGFB1 gene, while the TGF-ß-related genetic background of LDS consists mostly of TGFBR1 and TGFBR2 mutations, which may also impact the above syndromes' vascular manifestations. The potential utility of the TGF-ß signaling pathway factors as biomarkers that correlate genetics with clinical outcome of craniofacial malformations is discussed.


Assuntos
Anormalidades Craniofaciais , Síndrome de Loeys-Dietz , Humanos , Biomarcadores , Anormalidades Craniofaciais/genética , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/patologia , Receptores de Fatores de Crescimento Transformadores beta/genética , Receptores de Fatores de Crescimento Transformadores beta/metabolismo , Transdução de Sinais/genética , Fator de Crescimento Transformador beta/genética , Fator de Crescimento Transformador beta/metabolismo
7.
Adv Exp Med Biol ; 1423: 235-236, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525049

RESUMO

Breast milk is the ideal food for the premature and mature babies and has undoubtedly immediate and ultimate benefits. Among other things, it protects against infections, reduces the risk of necrotizing enterocolitis and retinopathy of the premature babies, improves neurodevelopmental outcome, and reduces the risk of obesity and metabolic syndrome later in life. In the present study, breast milk will be studied with all the available omics technologies. More specifically, functional genomics, comparative genomics, transcriptomics, sequencing, proteomics, and metabolomics will be performed. The above results and this multidimensional information will be coordinated under the framework of a holistic approach of systems biology and bioinformatic analysis. Important IncRNAs and protein molecules will be validated as candidate biomarkers in exosomes of a larger group of breast milk and blood/serum samples. Validated ncRNAs/proteins will be analyzed in exudates of breast milk and bovine, goat, and sheep milk to explore new ways to improve milk synthesis. Expression of ncRNAs, unlike mRNAs, is a direct indicator of their functional presence. The information to be generated in this study will be analyzed by mining and data combining techniques and algorithms. After defining breast milk molecular fingerprinting, an attempt will be made to enhance the commercial product. The benefits of breast milk are attributed to its various components, including nutrients, hormones, growth factors, immune cells, antibodies, cytokines, antimicrobial peptides, and extracellular vesicles.


Assuntos
Exossomos , Vesículas Extracelulares , Lactente , Feminino , Ovinos , Recém-Nascido , Humanos , Animais , Bovinos , Leite Humano/química , Leite , Recém-Nascido Prematuro , Exossomos/genética , Exossomos/metabolismo , Genômica
8.
Adv Exp Med Biol ; 1423: 245-250, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525051

RESUMO

Exploring the origin of plastids is an interesting theme for study because it enhances our knowledge of the basis of photosynthesis in flora. Plastids, which are organelles, are actually the major sites of photosynthesis in eukaryotic cells. Plastids are also every chloroplast which contains cytoplasmic organelles, enabling the harvesting and conversion of light and carbon dioxide into food and energy. Plastids can be found in eukaryotic cells, and according to their structure in their membrane, they can be separated in primary (which can be found in most algae and plants) and secondary plastids (which can be found in plankton).


Assuntos
Eixo Encéfalo-Intestino , Simbiose , Plantas , Plastídeos/metabolismo , Fotossíntese , Filogenia , Evolução Biológica
9.
Adv Exp Med Biol ; 1425: 207-215, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581795

RESUMO

Higher education's expectations place demands on students' attainment, leading them to experience stress and anxiety, which negatively affect their academic improvement and life satisfaction. The aim of this systematic review was to investigate (a) if mindfulness as an inner ability is related to academic attainment, through dependent variables, including compassion, engagement, stress or anxiety state, depression, self-efficacy, mindfulness's facets (non-reactivity, acting with awareness) and (b) if mindfulness-based interventions positively affect the academic performance of college and university students. The systematic review was conducted in accordance with the PRISMA statement. PubMed, Web of Science, and Cochrane Library Wiley were screened to identify studies published relevant to the topic. In total, 568 papers were retrieved in the initial search. Five papers met the eligibility criteria and were included in the systematic review: a randomized controlled trial, a non-randomized controlled trial, a quasi-experimental study, a quantitative exploratory pilot study, and a longitudinal randomized controlled study. Most interventional studies revealed a non-significant direct effect of practicing mindfulness technique on academic attainment. Further research, especially randomized controlled trials are necessary to clarify the effect of mindfulness on academic performance of college and university students.


Assuntos
Desempenho Acadêmico , Atenção Plena , Humanos , Depressão , Atenção Plena/educação , Atenção Plena/métodos , Projetos Piloto , Ensaios Clínicos Controlados Aleatórios como Assunto , Estresse Psicológico , Estudantes , Universidades
10.
Adv Exp Med Biol ; 1425: 229-245, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581797

RESUMO

This article provides a systematic review of studies evaluating the effect of meditation on the Default Mode Network (DMN). The review was conducted according to PRISMA guidelines. A literature search of PubMed, Scopus, and Embase was conducted up to June 2020. Search terms included default mode network or DMN and meditation.A total of 306 articles were identified, of which 16 controlled trials with a total of 853 experienced (in Mindfulness, Samatha, Raja Yoga, Transcendental Meditation, Vipassana, Insight meditation Theravada tradition) and non-experienced mediators were finally included in this systematic review. The results showed that meditative interventions affect the operation of DMN and there are differences in functional connectivity between networks. Further research should be undertaken to establish meditation as an effective intervention strategy for well-being.


Assuntos
Meditação , Atenção Plena , Yoga , Humanos , Rede de Modo Padrão , Rede Nervosa
11.
Adv Exp Med Biol ; 1423: 175-180, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525041

RESUMO

INTRODUCTION: The intake of angiotensin-converting enzyme (ACE) inhibitors and specific antagonists of angiotensin II receptors, widely used as antihypertensive drugs, significantly reduces the risk of developing basal cell carcinoma (BCC), highlighting the possible tumorigenic role of angiotensin II (AngII). We present here the investigated genetic association between the development of BCC and functional DNA polymorphisms M235T, I/D, and A1903G in the genes of angiotensinogen (AGT), angiotensin-converting enzyme (ACE), and chymase (CMA1), which mediate AngII production levels. METHODS: DNA samples of 203 unrelated Greeks were studied, including 100 patients with BCC and 103 matched healthy controls. RESULTS: The MT genotype of the AGT-M235T polymorphism was significantly more prevalent in the patient group (78.0%) versus the healthy control group (28.3%; p < 0.001). The DD genotype of the ACE-I/D polymorphism was also increased in BCC patients (72.8%) compared to controls (46.2%; p = 0.001). The heterozygous AG genotype of CMA1-A1903G was significantly more frequent in the BCC group (86%) than in the healthy controls (50.5%; p < 0.001). CONCLUSIONS: The MT, DD, and AG genotypes of the AGT- M235T, ACE-I/D, and CMA1-A1903G polymorphisms, respectively, were significantly increased in frequency within the group of cancer patients compared to the healthy controls. All three genotypes correspond to increased enzyme levels or activity and result in increased levels of AngII; therefore, they may be potentially utilized as reliable biomarkers associated with an individual's increased risk for BCC development.


Assuntos
Carcinoma Basocelular , Neoplasias Cutâneas , Humanos , Angiotensinogênio/genética , Quimases/genética , Angiotensina II/genética , Polimorfismo Genético , Peptidil Dipeptidase A/genética , Genótipo , Carcinoma Basocelular/genética , Serina Proteases/genética , Neoplasias Cutâneas/genética , Biomarcadores , DNA , Sistema Renina-Angiotensina
12.
Adv Exp Med Biol ; 1425: 119-129, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581786

RESUMO

The purpose of this research study was to obtain greater insight into the associations of post-traumatic stress disorder (PTSD) and trauma-exposed experiences with the development of offending behavior in adolescents. Using the PubMed and Scopus databases, we performed a systematic review of recent cross-sectional studies between 2016 and 2022, investigating the associations of PTSD and trauma with the social and mental behavior of adolescents. Fifty-three articles were initially identified. Due to duplication, eight articles were excluded, leaving 45 remaining articles. In addition, 34 articles were excluded due to year of publication, review, abstract, or irrelevant title. Seven articles were included in this systematic review after excluding the remaining due to different study types or samples. Included studies primarily examined the associations of PTSD symptomatology and expression of externalizing symptoms with risky behavior and the commission of a crime. The strongest outcomes were increased levels of violent behavior, violent delinquency, and total risk in correlation with PTSD symptoms, emotional numbing, use of drugs, and in some cases maltreatment. The results of the systematic review suggest that PTSD symptoms and risky behavior, which can be also fueled by maltreatment activities in the family circle, are associated with criminal behavior. Future research is needed to confirm these findings.


Assuntos
Criminosos , Transtornos de Estresse Pós-Traumáticos , Humanos , Adolescente , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Criminosos/psicologia , Agressão/psicologia , Emoções , Fatores de Risco
13.
Adv Exp Med Biol ; 1425: 151-159, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581789

RESUMO

Occupational burnout is particularly widespread amongst surgical professionals. During the past 10 years, both the awareness and the ability to reliably measure and classify "burnout" in medical professionals have increased. The purpose of this systematic review was to summarize the current evidence on the burnout levels of general surgeons. Online searches were carried out using the scientific search engines PubMed, Embase, Cinahl, and Google scholar, from 2010 to 2020, before the COVID-19 pandemic. Articles that met the inclusion criteria were critically evaluated using the critical appraisal skills programme (CASP) tool. Five studies pertaining to 669 subjects were included in this review. As expected, "burnout syndrome" was mainly due to the exhaustive and demanding conditions of working life and was strongly observed in general surgeons. The incidence of the burnout syndrome increased with their years of service, compromised their quality of life, and had detrimental effects on their mental and physical health. Personal achievements and emotional satisfaction were protective for the occurrence of the syndrome. We conclude that valid recognition and prevention of the burnout syndrome are necessary. Further research is needed to manage this phenomenon within the healthcare settings and the surgical departments.


Assuntos
Esgotamento Profissional , COVID-19 , Cirurgiões , Humanos , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/psicologia , Pandemias , Qualidade de Vida , COVID-19/epidemiologia
14.
Adv Exp Med Biol ; 1425: 457-467, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581819

RESUMO

Many studies have shown the effect of dance to the brain. It seems that long-term practice modulates brain plasticity and visuomotor skills, as it activates the Action Observation Network (AON). The aim of this systematic review was to evaluate potential differences in the brain activity (visuomotor skills) between professional dancers and non-dancer adults, measured by electroencephalography (EEG), during the observation of an individual who is dancing (video dance stimuli). This literature search was conducted from February to June 2022, according to the PRISMA guidelines, in the PubMed database using advanced search, mesh terms, and extensive manual search. The included articles were published in English. Specifically, case-control studies were selected, which used healthy adults, professional dancers, and non-dancers as participants, who were exposed to video dance clips and measured by EEG. The articles were excluded if they were based on different type of study, unhealthy population, control group with athletic background, different type of stimuli (rhythmic), or different type of task and procedure. The ratings of quality of evidence were conducted using the Joanna Briggs Institute's (JBI) critical appraisal tool. Five case-control studies were included with 193 participants in total, 87% females. The participating groups of professional dancers (n = 12-25) had mean age 25.14 years, with at least 9-19 years of professional training, whereas control groups had the same sample size, mean age of 24.14 years, and no experience in dancing. Most of the studies presented high methodological quality. All studies showed significant differences in dancers' brain activity, especially regarding the visuomotor skills. The results showed faster activation of AON demonstrated by higher P300 at the frontocentral regions and increased sensitivity of the occipital temporal cortex. Dancers could cope easier with familiar-unfamiliar and effortful-effortless movements. They also demonstrated faster alpha band peak frequency, stronger synchrony over the bands theta, beta, gamma during the audiovisual stimuli, and the ability to encode faster the visual information. The results demonstrate that dancers had better visuomotor skills suggesting dance-enhanced neuroplasticity, as professional dancers processed their actions easier. Dance, which includes visuomotor tasks, could help in prevention, therapy, and rehabilitation of neurodegenerative diseases or movement disorders.


Assuntos
Dança , Esportes , Adulto , Feminino , Humanos , Adulto Jovem , Masculino , Encéfalo/fisiologia , Movimento , Estudos de Casos e Controles
15.
Adv Exp Med Biol ; 1425: 545-553, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581828

RESUMO

Aroma extracts from plant species have been utilized since ancient times for a variety of discomforting circumstances. Aromatherapy is a recognized complementary therapeutic treatment performed in various ways such as massage or dermal application, with its main uses involving relaxation, pain relief, and stress management. Several studies have outlined that inhalation of fragrance may influence the brain function since their components can cross the blood-brain barrier and interact with central nervous system receptors. The aim of this review was to systematically present findings regarding alpha brain wave activity reported exclusively by electroencephalography. The study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The PubMed and Scopus databases were screened for relevant papers, based on specific eligibility criteria. The final step of the process resulted in 13 studies published between 1998 and 2021, using different essential oils. Most of the studies revealed the increase of alpha brainwave activity post-essential oil inhalation. Given the proven positive outcomes of increased alpha wave activity on several domains such as cognitive performance and better mental state, further research on the impact of essential oil inhalation is warranted.


Assuntos
Aromaterapia , Ondas Encefálicas , Óleos Voláteis , Adulto , Humanos , Óleos Voláteis/uso terapêutico , Óleos de Plantas , Eletroencefalografia
16.
Adv Exp Med Biol ; 1423: 59-78, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525033

RESUMO

SARS-CoV-2 is a coronavirus responsible for one of the most serious, modern worldwide pandemics, with lasting and multifaceted effects. By late 2021, SARS-CoV-2 has infected more than 180 million people and has killed more than 3 million. The virus gains entrance to human cells through binding to ACE2 via its surface spike protein and causes a complex disease of the respiratory system, termed COVID-19. Vaccination efforts are being made to hinder the viral spread, and therapeutics are currently under development. Toward this goal, scientific attention is shifting toward variants and SNPs that affect factors of the disease such as susceptibility and severity. This genomic grammar, tightly related to the dark part of our genome, can be explored through the use of modern methods such as natural language processing. We present a semantic analysis of SARS-CoV-2-related publications, which yielded a repertoire of SNPs, genes, and disease ontologies. Population data from the 1000 Genomes Project were subsequently integrated into the pipeline. Data mining approaches of this scale have the potential to elucidate the complex interaction between COVID-19 pathogenesis and host genetic variation; the resulting knowledge can facilitate the management of high-risk groups and aid the efforts toward precision medicine.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , COVID-19/genética , SARS-CoV-2/genética , SARS-CoV-2/metabolismo , Semântica , Peptidil Dipeptidase A/genética , Polimorfismo de Nucleotídeo Único
17.
Adv Exp Med Biol ; 1423: 79-99, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525034

RESUMO

Mental disorders are strongly connected with several psychiatric conditions including depression, bipolar disorder, schizophrenia, eating disorder, and suicides. There are many biological conditions and pathways that define these complicated illnesses. For example, eating disorders are complex mental health conditions that require the intervention of geneticists, psychiatrists, and medical experts in order to alleviate their symptoms. A patient with suicidal ideation should first be identified and consequently monitored by a similar team of specialists. Both genetics and epigenetics can shed light on eating disorders and suicides as they are found in the main core of such investigations. In the present study, an analysis has been performed on two specific members of the GPCR family toward drawing conclusions regarding their functionality and implementation in mental disorders. Specifically, evolutionary and structural studies on the adrenoceptor alpha 2b (ADRA2B) and the 5-hydroxytryptamine receptor 1A (HTR1A) have been carried out. Both receptors are classified in the biogenic amine receptors sub-cluster of the GPCRs and have been connected in many studies with mental diseases and malnutrition conditions. The major goal of this study is the investigation of conserved motifs among biogenic amine receptors that play an important role in this family signaling pathway, through an updated evolutionary analysis and the correlation of this information with the structural features of the HTR1A and ADRA2B. Furthermore, the structural comparison of ADRA2B, HTR1A, and other members of GPCRs related to mental disorders is performed.


Assuntos
Transtornos Mentais , Receptor 5-HT1A de Serotonina , Receptores de Amina Biogênica , Humanos , Transtornos Mentais/genética , Transtornos Mentais/metabolismo , Receptor 5-HT1A de Serotonina/genética , Receptores Adrenérgicos alfa 2 , Receptores de Amina Biogênica/genética , Receptores de Amina Biogênica/metabolismo , Serotonina , Transtornos da Alimentação e da Ingestão de Alimentos/genética , Ideação Suicida
18.
Adv Exp Med Biol ; 1423: 101-113, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525035

RESUMO

All living organisms have been programmed to maintain a complex inner equilibrium called homeostasis, despite numerous adversities during their lifespan. Any threatening or perceived as such stimuli for homeostasis is termed a stressor, and a highly conserved response system called the stress response system has been developed to cope with these stimuli and maintain or reinstate homeostasis. The glucocorticoid receptor, a transcription factor belonging to the nuclear receptors protein superfamily, has a major role in the stress response system, and research on its interactome may provide novel information regarding the mechanisms underlying homeostasis maintenance. A list of 149 autosomal genes that have an essential role in GR function or are prime examples of GRE-containing genes was composed in order to gain a comprehensive view of the GR interactome. A search for SNPs on those particular genes was conducted on a dataset of 3554 Japanese individuals, with mentioned polymorphisms being annotated with relevant information from the ClinVar, LitVar, and dbSNP databases. Forty-two SNPs of interest and their genomic locations were identified. These SNPs have been associated with drug metabolism and neuropsychiatric, metabolic, and immune system disorders, while most of them were located in intronic regions. The frequencies of those SNPs were later compared with a dataset consisting of 1465 Korean individuals in order to find population-specific characteristics based on some of the identified SNPs of interest. The results highlighted.that rs1043618 frequencies were different in the two populations, with mentioned polymorphism having a potential role in chronic obstructive pulmonary disease in response to environmental stressors. This SNP is located in the HSPA1A gene, which codes for an essential GR co-chaperone, and such information showcases that similar gene may be novel genomic targets for managing or combatting stress-related pathologies.


Assuntos
População do Leste Asiático , Receptores de Glucocorticoides , Humanos , Genômica , Chaperonas Moleculares/genética , Polimorfismo de Nucleotídeo Único , Receptores de Glucocorticoides/genética , Receptores de Glucocorticoides/metabolismo
19.
Adv Exp Med Biol ; 1425: 59-67, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581781

RESUMO

Evidence is limited regarding the effects of holistic programs on work-related stress, anxiety, and depressive symptomatology. This study aimed to evaluate the effects of the Pythagorean Self-Awareness Intervention (PSAI) on stress and mental health characteristics of civil servants in Crete, Greece. This was a single arm interventional study with PSAI outcome evaluation. Validated, self-reported scales were used to assess stress and mental health characteristics (PSS, DASS, UCLA, RSE, and STAXI). Hair samples were obtained to measure cortisol concentrations as a biological stress marker. Paired-samples t-test or Wilcoxon tests were used to evaluate pre- and post-intervention measures. Overall, 48 civil servants (56.3% women, mean age 51 years) participated in the study. Statistically significant reductions were observed in all self-reported stress scales (p < 0.05). Although hair cortisol decreased, this difference was not statistically significant (p = 0.109). Statistically significant improvements were also observed on depressive symptomatology (p < 0.001), self-esteem (p < 0.001), loneliness (p < 0.001), self-efficacy (p = 0.002), and anger (p = 0.017). The PSAI appeared beneficial with respect to all self-reported outcomes. Larger studies including control groups and further follow-up evaluations are needed to ascertain these findings.


Assuntos
Hidrocortisona , Saúde Mental , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Grécia , Ansiedade/psicologia , Biomarcadores
20.
Adv Exp Med Biol ; 1425: 79-91, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37581783

RESUMO

Both shame and guilt are self-conscious negative emotions claiming self-representations and self-awareness. Growing evidence indicates that these pessimistic emotions are associated to stress and stress-related disorders. The aim of this study was to translate and investigate the validity and reliability of the State Shame and Guilt Scale (SSGS) in a Greek adult population sample. A total of 181 adults (63% women) participated in the study. To validate the SSGS, correlations with the Depression Anxiety Stress Scales (DASS) and the Perceived Stress Scale (PSS) were also examined. Exploratory factor analysis was used to examine the factors of the Greek version of the SSGS. In addition, for greater validity, comparisons were made according to sex, marital status and level of education. The reliability assessment revealed that the index of internal consistency (Cronbach's alpha) was above the acceptable margin (0.7) for the three subscales (shame; 0.717, guilt; 0.770, pride; 0.874). The Greek version of the 15-item State Shame and Guilt Scale (SSGS) demonstrated good psychometric properties and could be proven useful for the assessment of shame, guilt, and pride.


Assuntos
Culpa , Vergonha , Adulto , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Emoções , Psicometria , Autoimagem
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