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1.
AIDS ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38959096

RESUMO

OBJECTIVE: To ascertain whether a novel expanded social network recruitment to HIV testing (E-SNRHT) intervention recruits men and individuals with previously-undiagnosed HIV at higher rates than risk network recruitment. DESIGN: Initial "seed" participants were prospectively randomly assigned to the E-SNRHT intervention or to risk network recruitment. Their network members were included in the study arm of their recruiter. SETTING: Three Department of Health clinics and two drug treatment centers (DTCs) in the Msunduzi municipality of KwaZulu-Natal, South Africa. PARTICIPANTS: Clinics and DTCs referred 110 newly-HIV-diagnosed adult "seeds" to the study from June 2022-February 2023. E-SNRHT seeds were asked to recruit network members as described below; risk network recruitment arm seeds were asked to recruit recent sex and/or injection partners. Presenting a recruitment coupon (from clinic/DTC staff or another participant) was required for eligibility. INTERVENTION: E-SNRHT seeds were shown educational material about HIV transmission risks and then asked to recruit anyone they know (e.g., friends, family) whom they thought could benefit from HIV testing. MAIN OUTCOME MEASURES: Rates of recruiting men to HIV testing and locating individuals with previously-undiagnosed HIV. RESULTS: E-SNRHT recruited significantly higher proportions of men to HIV testing (70.3% vs. 40.4%; χ2 = 16.33; p < .0005) and located significantly more previously-undiagnosed cases of HIV per seed than risk network recruitment (rate ratio = 9.40; p < .0001). E-SNRHT also recruited significantly higher proportions of women with previously-undiagnosed HIV (29.0% vs. 10.7%; χ2 = 3.87; p = .049). CONCLUSIONS: E-SNRHT is an important strategy to expand the reach of HIV testing among men and undiagnosed cases of HIV in KwaZulu-Natal.

2.
Appl Neuropsychol Adult ; : 1-12, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38984786

RESUMO

OBJECTIVE: The purpose of this review was to highlight the need to consider factors other than language when adapting tests across cultural groups and to offer a list of tests that have been adapted for use among patients from or descended from Latin American Countries. Despite efforts in the field through publications and workshops, the authors were aware of continued errors in cross-cultural assessment of these patients, resulting in misdiagnosis and unintentional inequitable care. Thus, we sought to reinforce the existing literature. METHOD: We reviewed the literature pertaining to cross-cultural adaptation of neuropsychological measures. Relevant papers were identified by our institution's Academic Enhanced Search Option (AcESO) Database, PubMed, and Google Scholar. RESULTS: 102 papers, articles, and other published literature were reviewed describing issues related to the adaptation of tests for groups originally from or descended from Latin American Countries residing in the United States. CONCLUSIONS: It is imperative that tests be appropriately developed or adapted for the target population with appropriate normative data available, and ideally administered by a fluent speaker trained in assessment. Inappropriate use of tests not adapted for a particular patient's language and country of origin can result in misdiagnosis, potentially resulting in harm to the individual.

3.
Dev Psychol ; 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38976436

RESUMO

Previous work has examined the impact of prenatal illicit drug use (PDU) on children's problem behaviors. However, many PDU-related risk factors, including genetic and rearing environmental risks, can also influence offspring's problem behaviors, thus confounding PDU, genetic, and rearing environmental influences. This study aimed to (a) identify effects of PDU on school-aged children's problem behaviors, including both externalizing and internalizing behaviors at Age 7, after controlling genetic and specific rearing environmental (e.g., maternal and paternal hostility at Ages 4.5 and 6) influences and (b) examine interaction effects between PDU and maternal and paternal hostility in predicting children's problem behaviors at Age 7. We used a parent-offspring adoption design to partition genetic and prenatal effects from postnatal rearing environmental influences. Participants were 561 children adopted at birth (42% female; 56% White, 19% multiracial, 13% Black/African American, 11% Latine, and 1% other), their adoptive parents, and their birth parents. Results indicate that PDU did not show a direct impact on Age 7 problem behaviors before or after controlling genetic risks and adoptive mother's and father's hostility. However, we found significant interactions between adoptive father's hostility and PDU when predicting children's problem behaviors, such that higher paternal hostility was associated with higher externalizing and internalizing behaviors for children whose birth mothers were non-use or rare use of illicit drugs during pregnancy. The results suggest that different from non- or rare drug-exposed children, higher levels of PDU may override the effects of paternal hostility, but not maternal hostility, on problem behaviors at Age 7. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

4.
Biophys J ; 2024 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-38853434

RESUMO

Endothelial cells (ECs) experience a variety of highly dynamic mechanical stresses. Among others, cyclic stretch and increased plasma membrane tension inhibit clathrin-mediated endocytosis (CME) in non-ECs. It remains elusive how ECs maintain CME in these biophysically unfavorable conditions. Previously, we have used simultaneous two-wavelength axial ratiometry (STAR) microscopy to show that endocytic dynamics are similar between statically cultured human umbilical vein endothelial cells (HUVECs) and fibroblast-like Cos-7 cells. Here, we asked whether biophysical stresses generated by blood flow influence CME. We used our data processing platform-DrSTAR-to examine if clathrin dynamics are altered in HUVECs after experiencing fluidic shear stress (FSS). We found that HUVECs cultivated under a physiological level of FSS had increased clathrin dynamics compared with static controls. FSS increased both clathrin-coated vesicle formation and nonproductive flat clathrin lattices by 2.3-fold and 1.9-fold, respectively. The curvature-positive events had significantly delayed curvature initiation relative to clathrin recruitment in flow-stimulated cells, highlighting a shift toward flat-to-curved clathrin transitions in vesicle formation. Overall, our findings indicate that clathrin dynamics and clathrin-coated vesicle formation can be modulated by the local physiological environment and represent an important regulatory mechanism.

5.
Artigo em Inglês | MEDLINE | ID: mdl-38908782

RESUMO

OBJECTIVE: This study examined the effectiveness of a recently developed non-thermal technology, nanosecond pulse field ablation (nsPFA), for surgical ablation of the atria in a beating heart porcine model. METHODS: Six pigs underwent sternotomy and ablation using an nsPFA parallel clamp. The ablation electrodes (53 mm long) were embedded in the jaws of the clamp. Nine lesions per pig were created in locations chosen to be representative of the Cox-Maze procedure. Four lesions were intended to electrically isolate parts of the atrium: the right atrial appendage, left atrial appendage, right pulmonary veins, and left pulmonary veins. For these lesions, exit block testing was performed both after ablation and before euthanasia; the time between the two tests was 3.3±0.5 hours (range 2 to 4 hours). Using purse string sutures, five more lesions were created up to the superior vena cava, down to the inferior vena cava, across the right atrial free wall, and at two distinct locations on the left atrial free wall. The clamp delivered a train of nanosecond duration pulses, with a total duration of 2.5 s, independent of tissue thickness. The heart tissue was stained with 1% triphenyltetrazolium chloride (TTC) after a dwelling period of two hours. Subsequently, each lesion was cross sectioned at 5 mm intervals to assess the ablation depth and transmurality. In some sections, transmurality could not be established on the basis of TTC staining alone; for these lesions, Gomori-trichrome stains were used, and the histological sections were evaluated for transmurality. RESULTS: The ablation time was 2.5 seconds per lesion, for a total of only 22.5 seconds ablation time to create 9 lesions. A total of 53 lesions were created, resulting in 388 separate histological sections. Transmurality was established in 386 sections (99.5%). Mean tissue thickness was 3.1±1.5 mm (range of 0.2 mm to 8.6 mm). Exit block was confirmed in 23 of the 24 lesions (96%) post-ablation and 23/24 (96%) pre-euthanasia. Over the course of the procedure, neither pulse-induced arrhythmias nor any other complications were noted. CONCLUSIONS: The novel nsPFA clamp device was effective in creating acute conduction block and transmural lesions in both the right and left atria in an acute porcine model. This non-thermal energy source has great potential to both shorten procedural time and enable effective ablation in the beating heart.

6.
AIDS Behav ; 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38833064

RESUMO

HIV-related stigma is a well-documented barrier to HIV testing in South Africa, and may be particularly likely to create reluctance to test among South African men, who have reported feeling blamed for HIV by their partners and communities. The present study presents a novel expanded social network recruitment to HIV testing (E-SNRHT) intervention explicitly designed to reduce stigma as a barrier to testing by asking people to recruit anyone they know to testing, thus allowing them to avoid the potential for increased stigma and/or blame associated with direct risk partner recruitment, and helping to normalize openly discussing HIV among social networks. We examined baseline and 6-10-week follow-up data from a 2022-2023 randomized trial in KwaZulu-Natal, South Africa that recruited 110 individuals who had been newly diagnosed with HIV and randomly assigned them to recruit people to HIV testing either via the E-SNRHT intervention or via risk network recruitment. Participants in the E-SNRHT intervention reported significant decreases in anticipated and enacted HIV-related stigma between baseline and follow-up; and the E-SNRHT intervention was more effective at decreasing enacted HIV-related stigma than was risk network recruitment. Individuals newly diagnosed with HIV by the E-SNRHT intervention reported significant increases in social support between intervention enrollment and follow-up, and all of these individuals reported participating in positive conversations about HIV services with peers in the 6-10 weeks after intervention enrollment. These findings suggest that E-SNRHT is a potentially important strategy to reduce HIV-related stigma as a barrier to HIV testing among peer networks in KwaZulu-Natal.

7.
Front Psychiatry ; 15: 1325506, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38694000

RESUMO

Introduction: Children and adolescents with elevated internalizing symptoms are at increased risk for depression, anxiety, and other psychopathology later in life. The present study examined the predictive links between two bioecological factors in early childhood-parental hostility and socioeconomic stress-and children's internalizing symptom class outcomes, while considering the effects of child sex assigned at birth on internalizing symptom development from childhood to adolescence. Materials and Methods: The study used a sample of 1,534 children to test the predictive effects of socioeconomic stress at ages 18 and 27 months; hostile parenting measured at child ages 4-5; and sex assigned at birth on children's internalizing symptom latent class outcomes at child ages 7-9, 10-12, 13-15, and 16-19. Analyses also tested the mediating effect of parenting on the relationship between socioeconomic stress and children's symptom classes. Other covariates included parent depressive symptoms at child ages 4-5 and child race and ethnicity. Results: Analyses identified three distinct heterogenous internalizing symptom classes characterized by relative symptom levels and progression: low (35%); moderate and increasing (41%); and higher and increasing (24%). As anticipated, higher levels of parental hostility in early childhood predicted membership in the higher and increasing symptom class, compared with the low symptom class (odds ratio (OR) = .61, 95% confidence interval (CI) [.48,.77]). Higher levels of early childhood socioeconomic stress were also associated with the likelihood of belonging to the higher-increasing symptom class compared to the low and moderate-increasing classes (OR = .46, 95% CI [.35,.60] and OR = .56, 95% CI [.44,.72], respectively). The total (c = .61) and direct (c' = .57) effects of socioeconomic stress on children's symptom class membership in the mediation analysis were significant (p <.001). Discussion: Study findings suggest that intervening on modifiable bioecological stressors-including parenting behaviors and socioeconomic stressors-may provide important protective influences on children's internalizing symptom trajectories.

8.
J Eat Disord ; 12(1): 62, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38773646

RESUMO

OBJECTIVE: Eating disorders (EDs) represent a rising global health concern. The current study takes a multivariate approach to examine psychological (i.e., perfectionism, anxiety sensitivity [AS], emotion dysregulation) and sociocultural factors (i.e., body dissatisfaction) that may relate to risk and resilience in EDs. METHODS: Participants were 698 undergraduate students (Mage = 21, SDage = 4.02), mainly female (71%) and Hispanic (61.6%), who participated in an online survey assessing perfectionism, emotion dysregulation, AS, body dissatisfaction, and eating behaviors. RESULTS: The results from structural equation model analyses revealed differential associations with disordered eating (DE) outcomes. Self-oriented perfectionism and dysmorphic appearance concerns were associated with increased dieting/carb restriction, desire for thinness, and binging tendencies. Specifically, emotional nonacceptance and lack of emotional awareness showed associations with elevated risk for dieting/carb restriction and purging tendencies, respectively. Conversely, lack of emotional clarity showed a protective pathway to these risk behaviors. Anxiety sensitivity cognitive concerns related to higher purging tendencies, while AS social concerns related to lower purging and binging tendencies. DISCUSSION: Findings highlight the differential pathways of psychosocial risk and resilience for EDs. Subscales of emotional dysregulation and AS showed risk as well as resilience associations with DE outcomes. This information is key for advancing transdiagnostic prevention and intervention to reduce the rising rates of EDs.


Eating disorders are rising worldwide at alarming rates. We know their development is complex involving multiple factors, but the specific contributions of different factors are not well understood. This study demonstrates differential pathways of risk and resilience among psychosocial factors (i.e., perfectionism, emotion dysregulation, anxiety sensitivity, and body dissatisfaction) and eating behaviors and cognitions. Facets of perfectionism and body dissatisfaction were associated with unhealthy eating behaviors like dieting and bingeing. However, different aspects of emotional dysregulation and anxiety sensitivity were linked to maladaptive eating behaviors, but others seemed to protect against risky eating behaviors. This information is crucial for creating more effective prevention and treatment strategies for eating disorders.

9.
Am J Public Health ; 114(S5): S396-S401, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38776498

RESUMO

Through a COVID-19 public health intervention implemented across sequenced research trials, we present a community engagement phased framework that embeds intervention implementation: (1) consultation and preparation, (2) collaboration and implementation, and (3) partnership and sustainment. Intervention effects included mitigation of psychological distress and a 0.28 increase in the Latinx population tested for SARS-CoV-2. We summarize community engagement activities and implementation strategies that took place across the trials to illustrate the value of the framework for public health practice and research. (Am J Public Health. 2024;114(S5):S396-S401. https://doi.org/10.2105/AJPH.2024.307669).


Assuntos
COVID-19 , Humanos , COVID-19/prevenção & controle , Participação da Comunidade/métodos , SARS-CoV-2 , Saúde Pública/métodos , Hispânico ou Latino , Pesquisa Translacional Biomédica/métodos , Pesquisa Translacional Biomédica/organização & administração
10.
Am J Public Health ; 114(S5): S377-S383, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38776501

RESUMO

We conducted focus groups with staff from 5 community-based organizations (21 participants; 86% female, 52% Hispanic/Latino/a/x and 24% Mexican/Mexican American) between August and October 2021. Results highlighted community partner perceptions of practices congruent (e.g., communication that built trust and dismantled power dynamics, a shared mission) and incongruent (e.g., intervention-community misalignment, research driven decision-making) with equitable implementation in the development, implementation, and evaluation of a promotores de salud intervention to increase COVID-19 testing and preventive behaviors among Latinx communities in Oregon. (Am J Public Health. 2024;114(S5):S377-S383. https://doi.org/10.2105/AJPH.2024.307686).


Assuntos
COVID-19 , Hispânico ou Latino , Humanos , Feminino , COVID-19/prevenção & controle , Masculino , Oregon , Grupos Focais , Pesquisa Qualitativa , Promoção da Saúde/métodos , Adulto , SARS-CoV-2 , Pessoa de Meia-Idade , Confiança
11.
Am J Physiol Renal Physiol ; 327(1): F113-F127, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38660712

RESUMO

The kidneys maintain fluid-electrolyte balance and excrete waste in the presence of constant fluctuations in plasma volume and systemic blood pressure. The kidneys perform these functions to control capillary perfusion and glomerular filtration by modulating the mechanisms of autoregulation. An effect of these modulations are spontaneous, natural fluctuations in glomerular perfusion. Numerous other mechanisms can lead to fluctuations in perfusion and flow. The ability to monitor these spontaneous physiological fluctuations in vivo could facilitate the early detection of kidney disease. The goal of this work was to investigate the use of resting-state magnetic resonance imaging (rsMRI) to detect spontaneous physiological fluctuations in the kidney. We performed rsMRI of rat kidneys in vivo over 10 min, applying motion correction to resolve time series in each voxel. We observed spatially variable, spontaneous fluctuations in rsMRI signal between 0 and 0.3 Hz, in frequency bands associated with autoregulatory mechanisms. We further applied rsMRI to investigate changes in these fluctuations in a rat model of diabetic nephropathy. Spectral analysis was performed on time series of rsMRI signals in the kidney cortex and medulla. The power from spectra in specific frequency bands from the cortex correlated with severity of glomerular pathology caused by diabetic nephropathy. Finally, we investigated the feasibility of using rsMRI of the human kidney in two participants, observing the presence of similar, spatially variable fluctuations. This approach may enable a range of preclinical and clinical investigations of kidney function and facilitate the development of new therapies to improve outcomes in patients with kidney disease.NEW & NOTEWORTHY This work demonstrates the development and use of resting-state MRI to detect low-frequency, spontaneous physiological fluctuations in the kidney consistent with previously observed fluctuations in perfusion and potentially due to autoregulatory function. These fluctuations are detectable in rat and human kidneys, and the power of these fluctuations is affected by diabetic nephropathy in rats.


Assuntos
Nefropatias Diabéticas , Rim , Imageamento por Ressonância Magnética , Ratos Sprague-Dawley , Animais , Nefropatias Diabéticas/fisiopatologia , Nefropatias Diabéticas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Masculino , Rim/fisiopatologia , Rim/diagnóstico por imagem , Ratos , Diabetes Mellitus Experimental/fisiopatologia , Diabetes Mellitus Experimental/diagnóstico por imagem , Circulação Renal , Humanos , Homeostase/fisiologia
12.
JAMA Netw Open ; 7(4): e245742, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38598238

RESUMO

Importance: Evidence suggests that living near green space supports mental health, but studies examining the association of green space with early mental health symptoms among children are rare. Objective: To evaluate the association between residential green space and early internalizing (eg, anxiety and depression) and externalizing (eg, aggression and rule-breaking) symptoms. Design, Setting, and Participants: Data for this cohort study were drawn from the Environmental Influences on Child Health Outcomes cohort; analysis was conducted from July to October 2023. Children born between 2007 and 2013 with outcome data in early (aged 2-5 years) and/or middle (aged 6-11 years) childhood who resided in 41 states across the US, drawing from clinic, hospital, and community-based cohorts, were included. Cohort sites were eligible if they recruited general population participants and if at least 30 children had outcome and residential address data to measure green space exposure. Nine cohorts with 13 sites met these criteria. Children diagnosed with autism or developmental delay were excluded, and 1 child per family was included. Exposures: Green space exposure was measured using a biannual (ie, summer and winter) Normalized Difference Vegetation Index, a satellite image-based indicator of vegetation density assigned to monthly residential history from birth to outcome assessment. Main Outcome and Measures: Child internalizing and externalizing symptoms were assessed using the Child Behavior Checklist for Ages 1½ to 5 or 6 to 18. The association between green space and internalizing and externalizing symptoms was modeled with multivariable linear regression using generalized estimating equations, adjusting for birthing parent educational level, age at delivery, child sex, prematurity, and neighborhood socioeconomic vulnerability. Models were estimated separately for early and middle childhood samples. Results: Among 2103 children included, 1061 (50.5%) were male; 606 (29.1%) identified as Black, 1094 (52.5%) as White, 248 (11.9%) as multiple races, and 137 (6.6%) as other races. Outcomes were assessed at mean (SD) ages of 4.2 (0.6) years in 1469 children aged 2 to 5 years and 7.8 (1.6) years in 1173 children aged 6 to 11 years. Greater green space exposure was associated with fewer early childhood internalizing symptoms in fully adjusted models (b = -1.29; 95% CI, -1.62 to -0.97). No associations were observed between residential green space and internalizing or externalizing symptoms in middle childhood. Conclusions and Relevance: In this study of residential green space and children's mental health, the association of green space with fewer internalizing symptoms was observed only in early childhood, suggesting a sensitive period for nature exposure. Policies protecting and promoting access to green space may help alleviate early mental health risk.


Assuntos
Agressão , Parques Recreativos , Criança , Humanos , Pré-Escolar , Masculino , Feminino , Estudos de Coortes , Instituições de Assistência Ambulatorial , Ansiedade/epidemiologia
13.
Front Neurol ; 15: 1342907, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38638311

RESUMO

Objective: Early detection of cognitive impairment in the elderly is crucial for diagnosis and appropriate care. Brief, cost-effective cognitive screening instruments are needed to help identify individuals who require further evaluation. This study presents preliminary data on a new screening technology using automated voice recording analysis software in a Spanish population. Method: Data were collected from 174 Spanish-speaking individuals clinically diagnosed as cognitively normal (CN, n = 87) or impaired (mild cognitive impairment [MCI], n = 63; all-cause dementia, n = 24). Participants were recorded performing four common language tasks (Animal fluency, alternating fluency [sports and fruits], phonemic "F" fluency, and Cookie Theft Description). Recordings were processed via text-transcription and digital-signal processing techniques to capture neuropsychological variables and audio characteristics. A training sample of 122 subjects with similar demographics across groups was used to develop an algorithm to detect cognitive impairment. Speech and task features were used to develop five independent machine learning (ML) models to compute scores between 0 and 1, and a final algorithm was constructed using repeated cross-validation. A socio-demographically balanced subset of 52 participants was used to test the algorithm. Analysis of covariance (ANCOVA), covarying for demographic characteristics, was used to predict logistically-transformed algorithm scores. Results: Mean logit algorithm scores were significantly different across groups in the testing sample (p < 0.01). Comparisons of CN with impaired (MCI + dementia) and MCI groups using the final algorithm resulted in an AUC of 0.93/0.90, with overall accuracy of 88.4%/87.5%, sensitivity of 87.5/83.3, and specificity of 89.2/89.2, respectively. Conclusion: Findings provide initial support for the utility of this automated speech analysis algorithm as a screening tool for cognitive impairment in Spanish speakers. Additional study is needed to validate this technology in larger and more diverse clinical populations.

14.
Behav Genet ; 54(3): 252-267, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38587720

RESUMO

One long-standing analytic approach in adoption studies is to examine correlations between features of adoptive homes and outcomes of adopted children (hereafter termed 'measured environment correlations') to illuminate environmental influences on those associations. Although results from such studies have almost uniformly suggested modest environmental influences on adopted children's academic achievement, other work has indicated that adopted children's achievement is routinely higher than that of their reared-apart family members, often substantially so. We sought to understand this discrepancy. We examined academic achievement and literacy-promotive features of the home in 424 yoked adoptive/biological families participating in the Early Growth and Development Study (EGDS; i.e., adopted children, adoptive mothers, birth mothers, and biological siblings of the adopted children remaining in the birth homes) using an exhaustive modeling approach. Results indicated that, as anticipated, adopted children scored up to a full standard deviation higher on standardized achievement tests relative to their birth mothers and reared-apart biological siblings. Moreover, these achievement differences were associated with differences in the literacy-promotive features of the adoptive and birth family homes, despite minimal measured environment correlations within adoptive families. A subsequent simulation study highlighted noise in measured environmental variables as an explanation for the decreased utility of measured environment correlations. We conclude that the field's heavy focus on measured environment correlations within adoptive families may have obscured detection of specific environmental effects on youth outcomes, and that future adoption studies should supplement their measured environment analyses with mean differences between reared-apart relatives.


Assuntos
Sucesso Acadêmico , Criança , Feminino , Adolescente , Humanos , Adoção , Mães , Irmãos , Escolaridade
15.
BMC Res Notes ; 17(1): 121, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38679724

RESUMO

Cri Du Chat syndrome, or 5p- syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable clinical manifestations, including high-pitched cry in newborns, delayed growth, and global development. Different cytogenomic rearrangements, family history, and environmental factors may hinder the genotype-phenotype association. Thus, the phenotypic variability of this syndrome may not be limited only to variations in gene structure, such as deletions and duplications. It is possible that other mechanisms related to the activation or inactivation of promoters and/or exons of actively transcribed genes, such as DNA methylation are involved. Therefore, we studied the genome-wide methylation status profile of peripheral blood samples from fifteen patients with Cri du Chat Syndrome and nine control samples through the array method to look for Differentially Methylated Regions. We found that Differentially Methylated Regions outside the 5p region are mainly associated with regulating gene transcription, splicing, and chromatin remodeling. Most biological pathways are related to transcription, histone and chromatin binding, spliceosome and ribosomal complex, and RNA processing. Our results suggest that changes in the 5p region can cause an imbalance in other chromosomal regions capable of affecting gene modulation and thus explain the phenotypic differences in patients with 5p-.


Assuntos
Síndrome de Cri-du-Chat , Metilação de DNA , Fenótipo , Humanos , Metilação de DNA/genética , Feminino , Síndrome de Cri-du-Chat/genética , Masculino , Cromossomos Humanos Par 5/genética , Pré-Escolar , Lactente , Criança
16.
Hear Res ; 445: 108996, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38547565

RESUMO

Acute noise-induced loss of synapses between inner hair cells (IHCs) and auditory nerve fibers (ANFs) has been documented in several strains of mice, but the extent of post-exposure recovery reportedly varies dramatically. If such inter-strain heterogeneity is real, it could be exploited to probe molecular pathways mediating neural remodeling in the adult cochlea. Here, we compared synaptopathy repair in CBA/CaJ vs. C57BL/6J, which are at opposite ends of the reported recovery spectrum. We evaluated C57BL/6J mice 0 h, 24 h, 2 wks or 8 wks after exposure for 2 h to octave-band noise (8-16 kHz) at either 90, 94 or 98 dB SPL, to compare with analogous post-exposure results in CBA/CaJ at 98 or 101 dB. We counted pre- and post-synaptic puncta in immunostained cochleas, using machine learning to classify paired (GluA2 and CtBP2) vs. orphan (CtBP2 only) puncta, and batch-processing to quantify immunostaining intensity. At 98 dB, both strains show ongoing loss of ribbons and synapses between 0 and 24 h, followed by partial recovery, however the extent and degree of these changes were greater in C57BL/6J. Much of the synaptic recovery is due to transient reduction in GluA2 intensity in synaptopathic regions. In contrast, CtBP2 intensity showed only transient increases (at 2 wks). Neurofilament staining revealed transient extension of ANF terminals in C57BL/6J, but not in CBA/CaJ, peaking at 24 h and reverting by 2 wks. Thus, although interstrain differences in synapse recovery are dominated by reversible changes in GluA2 receptor levels, the neurite extension seen in C57BL/6J suggests a qualitative difference in regenerative capacity.


Assuntos
Perda Auditiva Provocada por Ruído , Camundongos , Animais , Perda Auditiva Provocada por Ruído/etiologia , Perda Auditiva Provocada por Ruído/metabolismo , Camundongos Endogâmicos C57BL , Limiar Auditivo/fisiologia , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Camundongos Endogâmicos CBA , Cóclea/metabolismo , Sinapses/metabolismo
17.
JCPP Adv ; 4(1): e12198, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38486952

RESUMO

Background: Research and clinical practice rely heavily on caregiver-report measures, such as the Child Behavior Checklist 1.5-5 (CBCL/1.5-5), to gather information about early childhood behavior problems and to screen for child psychopathology. While studies have shown that demographic variables influence caregiver ratings of behavior problems, the extent to which the CBCL/1.5-5 functions equivalently at the item level across diverse samples is unknown. Methods: Item-level data of CBCL/1.5-5 from a large sample of young children (N = 9087) were drawn from 26 cohorts in the Environmental influences on Child Health Outcomes program. Factor analyses and the alignment method were applied to examine measurement invariance (MI) and differential item functioning (DIF) across child (age, sex, bilingual status, and neurodevelopmental disorders), and caregiver (sex, education level, household income level, depression, and language version administered) characteristics. Child race was examined in sensitivity analyses. Results: Items with the most impactful DIF across child and caregiver groupings were identified for Internalizing, Externalizing, and Total Problems. The robust item sets, excluding the high DIF items, showed good reliability and high correlation with the original Internalizing and Total Problems scales, with lower reliability for Externalizing. Language version of CBCL administration, education level and sex of the caregiver respondent showed the most significant impact on MI, followed by child age. Sensitivity analyses revealed that child race has a unique impact on DIF over and above socioeconomic status. Conclusions: The CBCL/1.5-5, a caregiver-report measure of early childhood behavior problems, showed bias across demographic groups. Robust item sets with less DIF can measure Internalizing and Total Problems equally as well as the full item sets, with slightly lower reliability for Externalizing, and can be crosswalked to the metric of the full item set, enabling calculation of normed T scores based on more robust item sets.

18.
Dev Psychopathol ; : 1-14, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38384191

RESUMO

Development and Psychopathology has been a premier resource for understanding stressful childhood experiences and the intergenerational continuity of psychopathology. Building on that tradition, we examined the unique and joint influences of maternal stress on children's effortful control (age 7) and externalizing behavior (age 11) as transmitted via genetics, the prenatal environment, and the postnatal environment. The sample included N = 561 adopted children and their biological and adoptive parents. Path models identified a direct effect of biological mother life stress on children's effortful control (ß = -.08) and an indirect effect of her life stress on child externalizing behavior via effortful control (ß = .52), but no main or indirect effects of biological parent psychopathology, prenatal stress, or adoptive mother adverse childhood experiences (ACES). Adoptive mother ACES amplified the association between biological mother life stress and child effortful control (ß = -.08), externalizing behavior (ß = 1.41), and the indirect effect via effortful control, strengthening associations when adoptive mothers reported average or high ACES during their own childhoods. Results suggest that novel study designs are needed to enhance the understanding of how life stress gets "under the skin" to affect psychopathology in the offspring of adults who have experienced stress.

19.
Dev Psychobiol ; 66(2): e22451, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38388196

RESUMO

A growing body of literature highlights the important role of paternal health and socioemotional characteristics in child development, from preconception through adolescence. Much of this research addresses the indirect effects of fathers, for instance, their influence on maternal behaviors during the prenatal period or via the relationship with their partner. However, emerging evidence also recognizes the direct role of paternal health and behavior for child health and adjustment across development. This critical review presents evidence of biological and sociocultural influences of fathers on preconception, prenatal, and postnatal contributions to child development. The National Institutes of Health Environmental influences on Child Health Outcomes (ECHO) program incorporates in its central conceptualization the impact of fathers on family and child outcomes. This critical synthesis of the literature focuses on three specific child outcomes in the ECHO program: health outcomes (e.g., obesity), neurodevelopmental outcomes (e.g., emotional, behavioral, psychopathological development), and positive health. We highlight the unique insights gained from the literature to date and provide next steps for future studies on paternal influences.


Assuntos
Desenvolvimento Infantil , Pai , Masculino , Criança , Gravidez , Feminino , Adolescente , Humanos , Pai/psicologia , Emoções , Avaliação de Resultados em Cuidados de Saúde
20.
Dev Psychol ; 60(6): 1028-1040, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38407105

RESUMO

A large body of research has established a relation between maternal education and children's neurocognitive functions, such as executive function and language. However, most studies have focused on early childhood and relatively few studies have examined associations with changes in maternal education over time. Consequently, it remains unclear if early maternal education is longitudinally related to neurocognitive functions in children, adolescents, and young adults. In addition, the associations between changes in maternal education across development and more broadly defined neurocognitive outcomes remain relatively untested. The current study leveraged a large multicohort sample to examine the longitudinal relations between perinatal maternal education and changes in maternal education during development with children's, adolescents', and young adults' neurocognitive functions (N = 2,688; Mage = 10.32 years; SDage = 4.26; range = 3-20 years). Moreover, we examined the differential effects of perinatal maternal education and changes in maternal education across development on executive function and language performance. Perinatal maternal education was positively associated with children's later overall neurocognitive function. This longitudinal relation was stronger for language than executive function. In addition, increases in maternal education were related to improved language performance but were not associated with executive functioning performance. Our findings support perinatal maternal education as an important predictor of neurocognitive outcomes later in development. Moreover, our results suggest that examining how maternal education changes across development can provide important insights that can help inform policies and interventions designed to foster neurocognitive development. (PsycInfo Database Record (c) 2024 APA, all rights reserved).


Assuntos
Desenvolvimento Infantil , Escolaridade , Função Executiva , Mães , Humanos , Feminino , Criança , Função Executiva/fisiologia , Masculino , Pré-Escolar , Adolescente , Estudos Longitudinais , Desenvolvimento Infantil/fisiologia , Adulto Jovem , Mães/psicologia , Adulto , Cognição/fisiologia , Desenvolvimento da Linguagem
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