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1.
Health Commun ; : 1-15, 2024 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-38644619

RESUMO

Exercise and weight management is crucial in preventing postpartum depression and long-term obesity that carries the risk of chronic illness among postpartum women. Although communication devices, such as a smart wrist-worn wearable (SWW), can help users be more physically active, the extent to which postpartum women might benefit from this technology is unknown. We examined how SWWs promoted exercise and helped postpartum women return to pre-pregnancy weight. We tested a model based on the premise that a motivational device that prompts users to engage with it can establish healthy daily routines. An online survey of 309 postpartum women who were living in the United States and were current users of SWWs revealed that the device encouraged them to spend time completing workout goals. Technological affordances (i.e. customization, navigability, and interactivity) and subsequent user engagement with the device positively predicted total workout hours among postpartum women. We present practical implications for postpartum care programs and smart wearable developers.

2.
Clin Exp Otorhinolaryngol ; 16(3): 225-235, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37202348

RESUMO

OBJECTIVES: Particulate matter (PM) is a risk factor for various diseases. Recent studies have established an association between otitis media (OM) and PM exposure. To confirm this relationship, we developed a novel exposure model designed to control the concentration of PM, and we observed the effects of PM exposure on the Eustachian tube (ET) and middle ear mucosa of rats. METHODS: Forty healthy, 10-week-old, male Sprague-Dawley rats were divided into 3-day, 7-day, 14-day exposure, and control groups (each, n=10). The rats were exposed to incense smoke as the PM source for 3 hours per day. After exposure, bilateral ETs and mastoid bullae were harvested, and histopathological findings were compared using microscopy and transmission electron microscopy (TEM). The expression levels of interleukin (IL)-1ß, IL-6, tumor necrosis factor-α, and vascular endothelial growth factor (VEGF) in the middle ear mucosa of each group were compared using real-time reverse transcription polymerase chain reaction (RT-PCR). RESULTS: In the ET mucosa of the exposure group, the goblet cell count significantly increased after PM exposure (P=0.032). In the middle ear mucosa, subepithelial space thickening, increased angio-capillary tissue, and inflammatory cell infiltration were observed. Moreover, the thickness of the middle ear mucosa in the exposure groups increased compared to the control group (P<0.01). The TEM findings showed PM particles on the surface of the ET and middle ear mucosa, and RT-PCR revealed that messenger RNA (mRNA) expression of IL-1ß significantly increased in the 3-day and 7-day exposure groups compared to the control group (P=0.035). VEGF expression significantly increased in the 7-day exposure group compared to the control and 3-day exposure groups (P<0.01). CONCLUSION: The ET and middle ear mucosa of rats showed histopathologic changes after acute exposure to PM that directly reached the ET and middle ear mucosa. Therefore, acute exposure to PM may play a role in the development of OM.

3.
Clin Psychopharmacol Neurosci ; 21(2): 359-369, 2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37119228

RESUMO

Objective: Posttraumatic stress disorder (PTSD) is characterized by increased inflammatory processing and altered brain volume. In this study, we investigated the relationship between inflammatory markers and brain volume in patients with PTSD. Methods: Forty-five patients with PTSD, and 70 healthy controls (HC) completed clinical assessments and self-reported psychopathology scales. Factors associated with inflammatory responses including brain-derived neurotrophic factor and four inflammatory biomarkers (C-reactive protein, cortisol, Interleukin-6, and homocysteine) and T1-magnetic resonance imaging of the brain were measured. Results: In the PTSD group, cortisol level was significantly lower (t = 2.438, p = 0.046) than that of the HC. Cortisol level was significantly negatively correlated with the left thalamus proper (r = -0.369, p = 0.035), right thalamus proper (r = -0.394, p = 0.014), right frontal pole (r = -0.348, p = 0.039), left occipital pole (r = -0.338, p = 0.044), and right superior occipital gyrus (r = -0.397, p = 0.008) in patients with PTSD. However, these significant correlations were not observed in HC. Conclusion: Our results indicate that increased cortisol level, even though its average level was lower than that of HC, is associated with smaller volumes of the thalamus, right frontal pole, left occipital pole, and right superior occipital gyrus in patients with PTSD. Cortisol, a major stress hormone, might be a reliable biomarker to brain volumes and pathophysiological pathways in patients with PTSD.

4.
J Int Med Res ; 51(2): 3000605231152100, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36748349

RESUMO

OBJECTIVE: Lidocaine is an amide local anaesthetic commonly used for pain control, however, few studies have investigated the effect of lidocaine on the osteogenic differentiation of human dental pulp stem cells (HDPSCs). The present study aimed to determine the effect of lidocaine on HDPSC viability and osteogenic differentiation. METHODS: HDPSCs were incubated with 0, 0.05, 0.2, 0.5, and 1 mM lidocaine for 24, 48 and 72 h, after which, MTT assays were performed. HDPSCs cultured with the above lidocaine concentrations and osteogenic differentiation medium for 7 and 14 days were stained for alkaline phosphatase (ALP). Protein and mRNA levels of relevant osteogenic factors (bone morphogenetic protein-2 [BMP-2] and runt-related transcription factor 2 [RUNX2]) were examined using western blotting and real-time reverse-transcription polymerase chain reaction, respectively. RESULTS: Lidocaine did not affect the viability of HDPSCs, however, lidocaine reduced ALP activity in HDPSCs. Levels of ALP, BMP-2, and RUNX2 mRNA were reduced with lidocaine, and levels of BMP-2 and RUNX2 proteins were decreased, versus controls. CONCLUSIONS: Lidocaine inhibits osteogenic differentiation markers in HDPSCs in vitro, even at low concentrations, without cytotoxicity. This study suggests that lidocaine may inhibit osteogenic differentiation in HDPSC-mediated regenerative medicine, including pulp regeneration and repair.


Assuntos
Subunidade alfa 1 de Fator de Ligação ao Core , Osteogênese , Humanos , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Polpa Dentária , Lidocaína/farmacologia , Células-Tronco/metabolismo , Regeneração , Diferenciação Celular , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Células Cultivadas , Proliferação de Células
5.
Matern Child Health J ; 27(4): 690-697, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36781692

RESUMO

INTRODUCTION: Despite previous attempts to identify types of social support among postpartum mothers, researchers have overlooked how and why postpartum mothers seek and offer social support as well as the dynamics of participation in online communities. OBJECTIVE AND METHODS: The objective of the current study was to explore possible answers through grounded theory approach of interviews with 24 mothers who have experienced postpartum depression and psychological distress. RESULTS: The primary motivation to join the community was a desire for connectedness and reassurance. Initially engaged to seek information, users began to share not only informational and tangible support, but also emotional and esteem support as they gained comfort with their membership in these groups. CONCLUSION: Findings suggest that affirming normalcy while coping with postpartum distress is an integral part of the social support shared among postpartum mothers. Moreover, the findings indicated that to maximize the sustainability as well as the effectiveness of online communities for postpartum mothers, motivating silent users to participate and reciprocate is crucial.


What is already known Many postpartum mothers have joined online communities to exchange information and social support with fellow moms in the group. Previous studies have found various motivations for postpartum moms joining online communities and what types of social support they share. However, what motivates postpartum mothers to get involved, stay in or leave online communities based on level of satisfaction with those communities remains unclear.What this study can add to the literature Two major motivations among postpartum mothers to join online social support groups were a need to communicate to end their sense of isolation and a desire to gather information from experienced people. After gaining a sense of group reliability, they began posting to seek and provide support. Through experiencing and observing the exchange of support within the community, postpartum mothers felt more attached to the group. They also developed the need to reciprocate support through empathy based on their development of in-group identity. In addition, the motivation to reciprocate stemmed from enhanced confidence in their own knowledge of postpartum symptoms.


Assuntos
Depressão Pós-Parto , Apoio Social , Feminino , Humanos , Mães/psicologia , Período Pós-Parto , Depressão Pós-Parto/psicologia , Emoções
6.
Psychiatry Investig ; 19(10): 857-865, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36327966

RESUMO

OBJECTIVE: This study aimed to explore the relationship between childhood physical abuse and suicidal ideation considering the effects of genetic and environmental factors in patients with post-traumatic stress disorder (PTSD) by focusing on brain-derived neurotrophic factor (BDNF) polymorphism and social support, respectively. METHODS: One-hundred fourteen patients with PTSD and 94 healthy controls (HCs) were genotyped with respect to BDNF Val66Met polymorphism. All participants underwent psychological assessments. The hierarchical regression analysis and the simple slope analysis were conducted. RESULTS: As for patients with PTSD, the moderation effect of BDNF polymorphism was significant but not for social support. Specifically, the BDNF Val/Val genotype worked as a risk factor and strengthens the relationship between childhood physical abuse and suicidal ideation. As for the HCs, the significant moderation effect was found only in social support, but not for BDNF polymorphism. The relationship between childhood physical abuse and suicidal ideation was weakened for the HCs with high social support. CONCLUSION: This study demonstrated a significant BDNF genetic vulnerability for suicide in patients with PTSD who experienced childhood physical abuse. Our results suggested that social support provided a mitigating effect on the relationship between childhood physical abuse and suicidal ideation only in the HCs.

7.
J Dent Sci ; 17(4): 1604-1611, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36299329

RESUMO

Background/purpose: Various studies have used stem cells in the field of bone tissue engineering to repair bone defects. Dental pulp stem cells (DPSCs) have multipotent properties and can be acquired in a noninvasive manner; therefore, they are frequently used in experiments in regenerative medicine. The objective of this study was to investigate the odontogenic/osteogenic differentiation of human DPSCs (hDPSCs) using propofol, a widely used intravenous anesthetic agent. Materials and methods: Alkaline phosphatase (ALP) staining was used to investigate the effects of various concentrations of propofol (5, 20, 50 and 100 µM) on the osteogenic differentiation of hDPSCs. Real-time qPCR and Western blot analysis were used to detect the effect of propofol on the expression of odontogenic/osteogenic genes, such as DMP1, RUNX2, OCN, and BMP2. Odontogenic/osteogenic differentiation of hDPSCs was estimated at days 7 and 14. Results: ALP staining of hDPSCs was significantly decreased by propofol treatment. The mRNA expression of DMP1, RUNX2, OCN, and BMP2 decreased after propofol treatment for 14 days. The protein expression of DMP1 and BMP2 was decreased by propofol at days 7 and 14, and that of RUNX2 was decreased by propofol at day 14 only. Conclusion: Propofol attenuated odontogenic/osteogenic differentiation of hDPSCs in vitro. This result suggests that propofol, which is widely used for dental sedation, may inhibit the odontogenic/osteogenic differentiation of hDPSCs.

8.
J Affect Disord ; 318: 357-363, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36055537

RESUMO

BACKGROUND: Although transcranial direct stimulation (tDCS) has been proposed as an alternative treatment option for various psychiatric disorders, there is inconsistent information regarding the treatment effects of tDCS for patients with post-traumatic stress disorder (PTSD). This study aimed to investigate the tDCS efficacy and identify predictors of treatment response to tDCS in patients with PTSD. METHOD: Fifty-one patients received 10 sessions of tDCS involving the position of the anode over the F3 area and cathode over the F4 as a condition of 2.0 mA and 20 min duration. Digit span test and 10 questionnaires (Clinician-Administered PTSD Scale (CAPS), Cognitive Emotion Regulation Questionnaire (CERQ), Multidimensional Experiential Avoidance Questionnaire (MEAQ), etc.) were used to measure tDCS effects on PTSD symptoms and identify predictors of response to tDCS. RESULTS: 1) 50.9 % of patients had a significant reduction in the frequency and severity of PTSD symptoms, 2) PTSD-related symptoms such as depression, anxiety, rumination, and quality of life were significantly improved, 3) baseline scores on rumination and digit span test significantly predicted treatment response to tDCS. LIMITATIONS: This study was open design without a sham control group. Also, the patients' medications were not controlled. CONCLUSION: This study highlighted the efficacy of frontal tDCS for the treatment of patients with PTSD and identified rumination and digit span as favorable predictive factors for the outcomes of tDCS.


Assuntos
Transtornos de Estresse Pós-Traumáticos , Estimulação Transcraniana por Corrente Contínua , Método Duplo-Cego , Humanos , Córtex Pré-Frontal/fisiologia , Qualidade de Vida , Transtornos de Estresse Pós-Traumáticos/psicologia , Transtornos de Estresse Pós-Traumáticos/terapia , Estimulação Transcraniana por Corrente Contínua/métodos , Resultado do Tratamento
9.
Front Neurol ; 13: 938740, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35923832

RESUMO

Objectives: This study aimed to determine the underlying pathogenesis of Meniere's disease (MD) using transcriptome analysis. Methods: Total RNA was extracted from the peripheral blood mononuclear cells of 39 patients with MD and 39 controls. Through microarray analysis for nine patients and controls, the differentially expressed genes (DEGs) of those two groups were screened based on cut-off criteria (|fold changes| > 2.0 and adjusted p-value < 0.05). The functional enrichment analysis of DEGs was performed using Gene Ontology (GO). Results: There were 996 DEGs identified in the MD group: 415 were upregulated and 581 were downregulated. A functional enrichment analysis indicated that the downregulated DEGs were significantly enriched in terms related to immune system processes. Among them, 17 genes were enriched in terms for the major histocompatibility complex (MHC) protein complex, and the relative messenger RNA (mRNA) levels of three markedly downregulated DEGs [fold changes < -5: human leukocyte antigen (HLA)-DMA, HLA-DRB1, and HLA-DPB1] were significantly decreased in another 30 patients with MD compared with normal controls by quantitative reverse transcription-polymerase chain reaction (qRT-PCR). However, there were no correlations between the expression levels of these three genes and clinical data, such as age, onset age, time course, or hearing threshold. Conclusions: Our transcriptome analysis showed that the downregulated DEGs in MD were mainly associated with the immune system pathways including the MHC protein complex in MD. Remarkably, a breakdown in immunological tolerance mediated by MHC class II may contribute to the MD development, which has implications for targeted treatment.

10.
Health Care Women Int ; 43(12): 1464-1481, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35195498

RESUMO

The proliferation of online health communities creates opportunities to exchange social support. Given the growing need to investigate the extent to which social support helps mothers with postpartum depression (PPD) and psychological distress, we conducted a content analysis of 3,073 posts from a PPD-related message board in a prominent online community for Korean mothers. We found that community members tended to provide rather than seek support, indicating potential reciprocity in the community. We also found that emotion-focused coping strategies were much more prevalent than problem-focused coping strategies. Thus, the message board had an ambiguous identity, potentially undermining its actual purpose.


Assuntos
Depressão Pós-Parto , Mães , Feminino , Humanos , Mães/psicologia , Depressão Pós-Parto/psicologia , Adaptação Psicológica , Apoio Social , República da Coreia
11.
PLoS One ; 17(1): e0261007, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35085262

RESUMO

Low serum progranulin (PGRN) is known to be associated with granulin (GRN) gene mutation and T alleles of GRN rs5848 polymorphism. However, there have been only a few Asian studies exploring these. We investigated the serum PGRN levels, rs5848 genotypes, and their relations with cerebrospinal fluid (CSF) Alzheimer's disease (AD) biomarkers in the Korean population. Serum PGRN levels, GRN rs5848 polymorphism, and GRN mutations were evaluated in 239 participants (22 cognitively unimpaired participants and 217 patients with neurodegenerative diseases). CSF AD biomarkers were also evaluated in 214 participants. There was no significant difference in the serum PGRN levels among the diagnostic groups. We could not find any GRN mutation carrier in our sample. The differences in the frequencies of the rs5848 genotypes among the clinical groups or the effects of the rs5848 genotypes on serum PGRN were not observed. There was no correlation between the serum PGRN level or rs5848 genotype and CSF AD biomarkers. Neither the T allele nor the TT genotype had an effect on the development of AD. Our results showed that serum PGRN levels were not associated with rs5848 genotypes, indicating that multiple single nucleotide polymorphisms might affect PGRN concentrations in an ethnicity-specific manner.


Assuntos
Doença de Alzheimer/genética , Polimorfismo de Nucleotídeo Único , Progranulinas/sangue , Progranulinas/genética , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/sangue , Doença de Alzheimer/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , República da Coreia , Análise de Sequência de DNA
12.
PLoS One ; 16(7): e0254987, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34288975

RESUMO

BACKGROUND: The number of patients on home mechanical ventilation (HMV) worldwide has been steadily rising as medical technological advanced. To ensure the safety and quality care of the patients receiving HMV with tracheostomy, caring behavior of family caregivers is critical. However, studies on caring behavior of family caregivers and its associated factors were remained unexplored. This study aimed to describe the caring behaviors of family caregivers for patients receiving home mechanical ventilation with tracheostomy and to identify factors associated with their caring behaviors. METHODS: This was a cross-sectional study for 95 family caregivers for patients with invasive home mechanical ventilation in South Korea. Caring behaviors were assessed by the Caring Behavior Scale with 74 items with 5-point Likert scale. Data were analyzed using multiple regression analysis. RESULTS: Caring behaviors score of caregivers was 304.68±31.05 out of 370. They were significantly associated with knowledge on emergency care (ß = 0.22, p = .011), number of required instruments for care (ß = 0.21, p = .010), frequency of home visit care (ß = 0.19, p = .017), experience of emergency situation for the last six months (ß = 0.19, p = .009) and activities of daily living of patient (ß = 0.27, p = .002). CONCLUSION: Development of standardized multidisciplinary discharge education for improving the caring capacity of caregivers is required for successful and healthy application of home mechanical ventilation.


Assuntos
Atividades Cotidianas , Cuidadores , Serviços de Assistência Domiciliar , Qualidade da Assistência à Saúde , Respiração Artificial , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , República da Coreia , Traqueostomia
13.
Ophthalmic Genet ; 42(5): 561-569, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34132631

RESUMO

Background: Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. Identifying genetic causes of INS would help clinicians to facilitate clinical diagnosis and provide appropriate treatment. The aim of this study was to determine the diagnostic utility of targeted next-generation sequencing (NGS) for INS.Materials and methods: We recruited 37 patients who were referred to the Neuro-ophthalmology clinics for evaluations of INS. NGS was performed using a targeted panel that included 98 candidate genes associated with INS. We identified pathogenic variants according to guidelines of the American College of Medical Genetics and Genomics. We also calculated the sensitivity and specificity of each clinical sign to assess the diagnostic yield of our gene panel.Results: After variant filtering, annotation, and interpretation, the potential pathogenic variants were detected in 13 of the 37 patients, achieving a molecular diagnostic rate of 35%. The identified genes were PAX6 (n = 4), FRMD7 (n = 4), GPR143 (n = 2), CACNA1F (n = 1), CNGA3 (n = 1) and GUCY2D (n = 1). In approximately 30% (n = 4) of the patients, the initial clinical diagnosis was revised after a molecular diagnosis was performed. The presence of a family history had the highest predictive power for a molecular diagnosis (sensitivity = 61.5%, specificity = 91.7%), and the sensitivity increased when the family history was considered together with one of two clinical signs such as pendular nystagmus waveforms or anterior segment dysgenesis.Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.


Assuntos
Proteínas do Olho/genética , Mutação , Nistagmo Congênito/diagnóstico , Nistagmo Congênito/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Estudos de Associação Genética , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Sensibilidade e Especificidade , Análise de Sequência de DNA
14.
J Health Commun ; 26(3): 194-203, 2021 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-33899688

RESUMO

Although the health care industry has strived to address racial/ethnic disparities in health communication, several gaps remain. Previous findings suggest that communication technology might help narrow the gaps; however, they do not provide a comprehensive picture of how or why. To answer these questions, we examined the potential role of communication technology in mitigating the racial/ethnic disparities in patient-provider communication. Data analysis of the 2018 Health Information National Trends Survey (N= 3,504) revealed that the levels of perceived quality of communication with health care providers were lower among Asians and Hispanics than non-Hispanic Whites while no difference emerged between Blacks and non-Hispanic Whites. Although the adoption of communication technology was relatively high across minority groups, its use appeared to play different roles in different racial/ethnic populations. The Internet and patient portals showed no particular associations with patient-provider communication except for Black Internet users, who reported poorer experiences with patient-provider communication than non-users. Among Asians and Hispanics, social media and mobile communication appeared to play different roles in impacting communication experiences with health care providers. The findings suggest that communication technologies need to be strategically utilized and tailored to better meet the communication needs of racial/ethnic minorities.


Assuntos
Comunicação , Etnicidade/psicologia , Disparidades em Assistência à Saúde/etnologia , Grupos Minoritários/psicologia , Relações Médico-Paciente , Grupos Raciais/psicologia , Telemedicina/estatística & dados numéricos , Etnicidade/estatística & dados numéricos , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Grupos Minoritários/estatística & dados numéricos , Grupos Raciais/estatística & dados numéricos , Estados Unidos
15.
Alzheimer Dis Assoc Disord ; 34(3): 275-277, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32520735

RESUMO

Cerebrospinal fluid (CSF) amyloid-beta 1-42 (Aß1-42) and amyloid positron emission tomography (PET) are the 2 main Alzheimer disease amyloid biomarkers that have been validated in neuropathologically confirmed Alzheimer disease cases. Although many studies have shown concordance of amyloid positivity or negativity between CSF Aß1-42 and amyloid PET, several studies also reported discrepancies between these 2 Aß biomarkers. We conducted a comparison of CSF Aß1-42 level, amyloid PET, and autopsy findings in a case with progressive supranuclear palsy in which biomarker acquisition and postmortem pathologic examination were conducted almost at the same time. Our case with antemortem CSF Aß1-42 (+)/amyloid PET (-) who was pathologically confirmed with Aß pathology in the cerebral cortex may indicate CSF Aß1-42 is more sensitive for assessing in vivo Aß than amyloid PET.


Assuntos
Peptídeos beta-Amiloides/líquido cefalorraquidiano , Autopsia , Biomarcadores/líquido cefalorraquidiano , Fragmentos de Peptídeos/líquido cefalorraquidiano , Paralisia Supranuclear Progressiva/líquido cefalorraquidiano , Paralisia Supranuclear Progressiva/patologia , Idoso , Encéfalo/patologia , Humanos , Masculino , Tomografia por Emissão de Pósitrons , Paralisia Supranuclear Progressiva/diagnóstico por imagem
16.
Sci Rep ; 10(1): 3062, 2020 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-32080308

RESUMO

Mutations in human PAX6 gene are associated with various congenital eye malformations including aniridia, foveal hypoplasia, and congenital nystagmus. These various phenotypes may depend on the mutation spectrums that can affect DNA-binding affinity, although this hypothesis is debatable. We screened PAX6 mutations in two unrelated patients with congenital nystagmus, and measured DNA-binding affinity through isothermal titration calorimetry (ITC). To elucidate phenotypic differences according to DNA-binding affinity, we also compared DNA-binding affinity among the previously reported PAX6 missense mutations within the linker region between two subdomains of the paired domain (PD). We identified two novel mutations of PAX6 gene: c.214 G > T (p.Gly72Cys) and c.249_250delinsCGC (p.Val84Alafs*8). Both were located within the linker region between the two subdomains of the PD. ITC measurement revealed that the mutation p.Val84Alafs*8 had no DNA-binding affinity, while the p.Gly72Cys mutation showed a decreased binding affinity (Kd = 0.58 µM) by approximately 1.4 times compared to the wild type-PAX6 (Kd = 0.41 µM). We also found that there was no close relationship between DNA-binding affinity and phenotypic differences. Our results suggest that the DNA-binding affinity alone might be insufficient to determine PAX6-related phenotypes, and that other modifier genes or environmental factors might affect phenotypes of the PAX6 gene.


Assuntos
DNA/metabolismo , Mutação de Sentido Incorreto/genética , Fator de Transcrição PAX6/genética , Adolescente , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Feminino , Humanos , Masculino , Fator de Transcrição PAX6/química , Linhagem , Ligação Proteica , Domínios Proteicos
17.
J Alzheimers Dis ; 74(2): 473-490, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32039853

RESUMO

The diagnostic performances of cerebrospinal fluid (CSF) biomarkers and amyloid positron emission tomography (PET) were compared by examining the association and concordance or discordance between CSF Aß1-42 and amyloid PET, after determining our own cut-off values for CSF Alzheimer's disease (AD) biomarkers. Furthermore, we evaluated the ability of CSF biomarkers and amyloid PET to predict clinical progression. CSF Aß1-42, t-tau, and p-tau levels were analyzed in 203 individuals [27 normal controls, 38 mild cognitive impairment (MCI), 62 AD dementia, and 76 patients with other neurodegenerative diseases] consecutively recruited from two dementia clinics. We used both visual and standardized uptake value ratio (SUVR)-based amyloid PET assessments for analyses. The association of CSF biomarkers with amyloid PET SUVR, hippocampal atrophy, and cognitive function were investigated by linear regression analysis, and the risk of conversion from MCI to AD dementia was assessed using a Cox proportional hazards model. CSF p-tau/Aß1-42 and t-tau/Aß1-42 exhibited the best diagnostic accuracies among the CSF AD biomarkers examined. Correlations were observed between CSF biomarkers and global SUVR, hippocampal volume, and cognitive function. Overall concordance and discordance between CSF Aß1-42 and amyloid PET was 77% and 23%, respectively. Baseline positive CSF Aß1-42 for MCI demonstrated a 5.6-fold greater conversion risk than negative CSF Aß1-42 .  However, amyloid PET findings failed to exhibit significant prognostic value. Therefore, despite presence of a significant correlation between the CSF Aß1-42 level and SUVR of amyloid PET, and a relevant concordance between CSF Aß1-42 and amyloid PET, baseline CSF Aß1-42 better predicted AD conversion.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/diagnóstico por imagem , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Proteínas Amiloidogênicas/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Fragmentos de Peptídeos/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/líquido cefalorraquidiano , Disfunção Cognitiva/diagnóstico por imagem , Progressão da Doença , Feminino , Seguimentos , Hipocampo/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/líquido cefalorraquidiano , Doenças Neurodegenerativas/diagnóstico por imagem , Testes Neuropsicológicos , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes , Proteínas tau/líquido cefalorraquidiano
18.
Heliyon ; 5(3): e01290, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30949595

RESUMO

Electroencephalographic (EEG) research has suggested relatively reduced brain activity in the left frontal and right posterior region trait-markers of depression. However, inconsistent results have been reported. Based on previous studies reporting the heart rate variability (HRV) as an index of emotional regulation, this study makes a novel investigation of the role of heart rate variability (HRV) as a moderator in the relationship between frontal and parietal alpha asymmetry and depression. Resting EEG (eyes open) was recorded in 38 patients with MDD and 34 healthy subjects. Frontal and parietal alpha asymmetries were calculated at total (8-12 Hz), high (10-12 Hz), and low (8-10 Hz) alpha frequency bands. Three vagally mediated HRV (vmHRV) components (LF, HF, and the LF/HF ratio) were calculated in the frequency domain. Relatively greater right parietal alpha activity significantly predicted the severity of depression only when HF was low (or the LF/HF ratio was high) at low alpha frequency band. The interaction effect of parietal alpha asymmetry and vmHRV remained significant after including anxiety score as a covariate. No moderation effect of vmHRV was found for frontal sites and other frequency bands, as well as healthy subjects. These findings suggest that vmHRV moderates the association between parietal alpha asymmetry at low frequency band and depression for MDD patients. We suggest that the interaction between parietal alpha asymmetry and vmHRV may be a biomarker of MDD.

19.
Anatol J Cardiol ; 21(3): 134-141, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30821713

RESUMO

OBJECTIVE: Catheter-based renal sympathetic denervation (RDN) is implemented as a strategy to treat resistant hypertension. Serum creatinine and estimated glomerular filtration rate have some limitations to predict the early stage of acute kidney injury (AKI). We investigated the changes of early inflammatory biomarkers in AKI following the RDN procedure. METHODS: Twenty-five female swine were divided into three groups: normal control (Normal, n=5), sham-operated (Sham, n=5), and RDN groups (RDN, n=15). The RDN group was further subdivided into three subgroups according to the time of sacrifice: immediately (RDN-0, n=5), 1 week (RDN-1, n=5), and 2 weeks (RDN-2, n=5) after RDN. Renal cortical tissue was harvested, and clinical parameters and inflammatory biomarkers were checked. RESULTS: There were no significant changes in the clinical parameters between the normal control and sham-operated groups using contrast media. Inflammatory interleukin (IL)-1ß, IL-18, IL-6, tumor necrosis factor-α, and anti-inflammatory IL-10 increased immediately and then decreased at week 2 after RDN in the renal cortical tissue. Leaderless protein, IL-1α level, increased at week 1 and then decreased at week 2 after RDN. Caspase-1 increased immediately after RDN until week 2. Apoptosis-associated speck-like protein containing a caspase recruitment domain and NLRP3 expressions increased immediately and then decreased at week 2 after RDN. CONCLUSION: The RDN could induce acute renal inflammation through the activation of caspase-1 and NLRP3 inflammasome.


Assuntos
Caspase 1/metabolismo , Hipertensão/cirurgia , Rim/inervação , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Insuficiência Renal Crônica/cirurgia , Animais , Modelos Animais de Doenças , Feminino , Hipertensão/sangue , Hipertensão/fisiopatologia , Interleucina-1beta/sangue , Rim/patologia , Suínos , Simpatectomia
20.
Psychiatry Investig ; 16(2): 121-129, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30808118

RESUMO

OBJECTIVE: Not all depressive individuals are suicidal. An increasing body of studies has examined forgiveness, especially self-forgiveness, as a protective factor of suicide based on that suicide is often accompanied by negative self-perceptions. However, less has been studied on how different subtypes of forgiveness (i.e., forgiveness-of-self, forgiveness-of-others and forgiveness-of-situations) could alleviate the effects of depression on suicide. Hence, this study examined forgiveness as a moderator of depression and suicidality. METHODS: 305 participants, consisted of 87 males and 218 females, were included in the study. The mean age was 41.05 (SD: 14.48; range: 19-80). Depression, anxiety, and forgiveness were measured through self-report questionnaires, and suicidal risk was measured through a structuralized interview. Moderations were examined through hierarchical regression analyses. RESULTS: Depression positively correlated with suicidality. RESULTS: of the hierarchical regression analysis indicated forgiveness as a moderator of depression on suicidality. Further analysis indicated only forgiveness-of-self as a significant moderator; the effects of forgiveness-of-others and forgiveness-of-situation were not significant. CONCLUSION: These findings suggest that forgiveness-of-self is essential in reducing of the effects of depression on suicidality. It is suggested that self-acceptance and the promotion of self-forgiveness should be considered as an important factor when developing suicide prevention strategies.

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