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ELife May 2024Germline epigenetic programming, including genomic imprinting, substantially influences offspring development. Polycomb Repressive Complex 2 (PRC2) plays an important...
Germline epigenetic programming, including genomic imprinting, substantially influences offspring development. Polycomb Repressive Complex 2 (PRC2) plays an important role in Histone 3 Lysine 27 trimethylation (H3K27me3)-dependent imprinting, loss of which leads to growth and developmental changes in mouse offspring. In this study, we show that offspring from mouse oocytes lacking the PRC2 protein Embryonic Ectoderm Development (EED) were initially developmentally delayed, characterised by low blastocyst cell counts and substantial growth delay in mid-gestation embryos. This initial developmental delay was resolved as offspring underwent accelerated fetal development and growth in late gestation resulting in offspring that were similar stage and weight to controls at birth. The accelerated development and growth in offspring from -null oocytes was associated with remodelling of the placenta, which involved an increase in fetal and maternal tissue size, conspicuous expansion of the glycogen-enriched cell population, and delayed parturition. Despite placental remodelling and accelerated offspring fetal growth and development, placental efficiency, and fetal blood glucose levels were low, and the fetal blood metabolome was unchanged. Moreover, while expression of the H3K27me3-imprinted gene and amino acid transporter was increased, fetal blood levels of individual amino acids were similar to controls, indicating that placental amino acid transport was not enhanced. Genome-wide analyses identified extensive transcriptional dysregulation and DNA methylation changes in affected placentas, including a range of imprinted and non-imprinted genes. Together, while deletion of in growing oocytes resulted in fetal growth and developmental delay and placental hyperplasia, our data indicate a remarkable capacity for offspring fetal growth to be normalised despite inefficient placental function and the loss of H3K27me3-dependent genomic imprinting.
Topics: Animals; Female; Pregnancy; Genomic Imprinting; Mice; Polycomb Repressive Complex 2; Fetal Development; Placenta; Oocytes; Amino Acid Transport System A
PubMed: 38813868
DOI: 10.7554/eLife.81875 -
Turkish Journal of Medical Sciences 2023Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a...
BACKGROUND/AIM
Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.
MATERIALS AND METHODS
The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).
RESULTS
A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.
CONCLUSION
This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.
Topics: Humans; Williams Syndrome; Female; Child, Preschool; Male; Infant; Retrospective Studies; Adaptation, Psychological; Child; Child Development
PubMed: 38812996
DOI: 10.55730/1300-0144.5701 -
BMC Psychology May 2024Current research on the doctor-patient relationship primarily focuses on the responsibilities of doctors, with relatively less emphasis on examining the contributions... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Current research on the doctor-patient relationship primarily focuses on the responsibilities of doctors, with relatively less emphasis on examining the contributions patients can make. As a result, there is an urgent demand for exploring innovative approaches that highlight the active role patients play in cultivating a robust doctor-patient relationship. The purpose of this study was to devise an intervention strategy centered around patients to enhance the doctor-patient relationship. Comics were developed to depict shared narratives encompassing challenging daily life experiences between doctors and ordinary individuals. The study aimed to assess the efficacy of this approach in cultivating positive attitudes toward doctors.
METHOD
A 3-group design trial was conducted in Shanghai, China. A total of 152 participants were randomly assigned to one of three conditions: the parallel presenting group (n = 51), where narratives about a doctor and an ordinary employee were presented side by side in comics; the single presenting group (n = 50), where only narratives about a doctor were presented; and the control group (n = 51). The outcomes assessed in this study encompassed changes in identification with the doctor portrayed in the comics, perceived intimacy between doctors and patients in reality, and appraisal of the doctor in a prepared doctor-patient interaction situation.
RESULTS
The parallel presenting group exhibited significantly larger increases in identification with the doctor portrayed in the comics, perceived intimacy between doctors and patients in reality, and appraisal of the doctor in a prepared doctor-patient interaction scenario compared to the single presenting group. The observed enhancements in the appraisal of the doctor in a prepared doctor-patient interaction scenario can be attributed to the changes in identification with the doctor portrayed in the comics experienced by the participants.
CONCLUSION
Our study responds to the doctor-centric focus in existing research by exploring patients' contributions to the doctor-patient relationship. Using comics to depict shared narratives, the parallel presenting group demonstrated significantly increased identification with the depicted doctor, perceived intimacy, and positive appraisal in prepared scenarios compared to the single presenting group. This underscores the effectiveness of patient-centered interventions in shaping positive attitudes toward doctors, highlighting the pivotal role patients play in fostering a resilient doctor-patient relationship.
TRIAL REGISTRATION
Chinese Clinical Trail Registry: ChiCTR2400080999 (registered 20 February 2024; retrospectively registered).
Topics: Humans; Female; Male; Physician-Patient Relations; Adult; Narration; China; Young Adult; Middle Aged
PubMed: 38812042
DOI: 10.1186/s40359-024-01820-8 -
Scientific Data May 2024An Electroencephalography (EEG) dataset utilizing rich text stimuli can advance the understanding of how the brain encodes semantic information and contribute to...
An Electroencephalography (EEG) dataset utilizing rich text stimuli can advance the understanding of how the brain encodes semantic information and contribute to semantic decoding in brain-computer interface (BCI). Addressing the scarcity of EEG datasets featuring Chinese linguistic stimuli, we present the ChineseEEG dataset, a high-density EEG dataset complemented by simultaneous eye-tracking recordings. This dataset was compiled while 10 participants silently read approximately 13 hours of Chinese text from two well-known novels. This dataset provides long-duration EEG recordings, along with pre-processed EEG sensor-level data and semantic embeddings of reading materials extracted by a pre-trained natural language processing (NLP) model. As a pilot EEG dataset derived from natural Chinese linguistic stimuli, ChineseEEG can significantly support research across neuroscience, NLP, and linguistics. It establishes a benchmark dataset for Chinese semantic decoding, aids in the development of BCIs, and facilitates the exploration of alignment between large language models and human cognitive processes. It can also aid research into the brain's mechanisms of language processing within the context of the Chinese natural language.
Topics: Humans; Brain; Brain-Computer Interfaces; China; Electroencephalography; Language; Linguistics; Natural Language Processing; Reading; Semantics
PubMed: 38811613
DOI: 10.1038/s41597-024-03398-7 -
JMIR Mental Health May 2024There is evidence from meta-analyses and systematic reviews that digital mental health interventions for depression, anxiety, and stress-related disorders tend to be... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
There is evidence from meta-analyses and systematic reviews that digital mental health interventions for depression, anxiety, and stress-related disorders tend to be cost-effective. However, no such evidence exists for guided digital mental health care in low and middle-income countries (LMICs) facing humanitarian crises, where the needs are highest. Step-by-Step (SbS), a digital mental health intervention for depression, anxiety, and stress-related disorders, proved to be effective for Lebanese citizens and war-affected Syrians residing in Lebanon. Assessing the cost-effectiveness of SbS is crucial because Lebanon's overstretched health care system must prioritize cost-effective treatment options in the face of continuing humanitarian and economic crises.
OBJECTIVE
This study aims to assess the cost-effectiveness of SbS in a randomized comparison with enhanced usual care (EUC).
METHODS
The cost-effectiveness analysis was conducted alongside a pragmatic randomized controlled trial in 2 parallel groups comparing SbS (n=614) with EUC (n=635). The primary outcome was cost (in US $ for the reference year 2019) per treatment response of depressive symptoms, defined as >50% reduction of depressive symptoms measured using the Patient Health Questionnaire (PHQ). The secondary outcome was cost per remission of depressive symptoms, defined as a PHQ score <5 at last follow-up (5 months post baseline). The evaluation was conducted first from the health care perspective then from the societal perspective.
RESULTS
Taking the health care perspective, SbS had an 80% probability to be regarded as cost-effective compared with EUC when there is a willingness to pay US $220 per additional treatment response or US $840 per additional remission. Taking the wider societal perspective, SbS had a >75% probability to be cost-saving while gaining response or remission.
CONCLUSIONS
To our knowledge, this study is the first cost-effectiveness analysis based on a large randomized controlled trial (n=1249) of a guided digital mental health intervention in an LMIC. From the principal findings, 2 implications flowed, from the (1) health care perspective and (2) wider societal perspective. First, our findings suggest that SbS is associated with greater health benefits, albeit for higher costs than EUC. It is up to decision makers in health care to decide if they find the balance between additional health gains and additional health care costs acceptable. Second, as seen from the wider societal perspective, there is a substantial likelihood that SbS is not costing more than EUC but is associated with cost-savings as SBS participants become more productive, thus offsetting their health care costs. This finding may suggest to policy makers that it is in the interest of both population health and the wider Lebanese economy to implement SbS on a wide scale. In brief, SbS may offer a scalable, potentially cost-saving response to humanitarian emergencies in an LMIC.
TRIAL REGISTRATION
ClinicalTrials.gov NCT03720769; https://clinicaltrials.gov/ct2/show/NCT03720769.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID)
RR2-10.2196/21585.
Topics: Humans; Lebanon; Cost-Benefit Analysis; Adult; Male; Female; Depression; Middle Aged; Telemedicine; Mental Health Services; Anxiety; Altruism
PubMed: 38810255
DOI: 10.2196/55544 -
Frontiers in Computational Neuroscience 2024Novel technologies based on virtual reality (VR) are creating attractive virtual environments with high ecological value, used both in basic/clinical neuroscience and...
INTRODUCTION
Novel technologies based on virtual reality (VR) are creating attractive virtual environments with high ecological value, used both in basic/clinical neuroscience and modern medical practice. The study aimed to evaluate the effects of VR-based training in an elderly population.
MATERIALS AND METHODS
The study included 36 women over the age of 60, who were randomly divided into two groups subjected to balance-strength and balance-cognitive training. The research applied both conventional clinical tests, such as (a) the Timed Up and Go test, (b) the five-times sit-to-stand test, and (c) the posturographic exam with the Romberg test with eyes open and closed. Training in both groups was conducted for 10 sessions and embraced exercises on a bicycle ergometer and exercises using non-immersive VR created by the ActivLife platform. Machine learning methods with a -nearest neighbors classifier, which are very effective and popular, were proposed to statistically evaluate the differences in training effects in the two groups.
RESULTS AND CONCLUSION
The study showed that training using VR brought beneficial improvement in clinical tests and changes in the pattern of posturographic trajectories were observed. An important finding of the research was a statistically significant reduction in the risk of falls in the study population. The use of virtual environments in exercise/training has great potential in promoting healthy aging and preventing balance loss and falls among seniors.
PubMed: 38808222
DOI: 10.3389/fncom.2024.1390208 -
Frontiers in Integrative Neuroscience 2024Maximal grip strength, a measure of how much force a person's hand can generate when squeezing an object, may be an effective method for understanding potential...
Microstructural neural correlates of maximal grip strength in autistic children: the role of the cortico-cerebellar network and attention-deficit/hyperactivity disorder features.
INTRODUCTION
Maximal grip strength, a measure of how much force a person's hand can generate when squeezing an object, may be an effective method for understanding potential neurobiological differences during motor tasks. Grip strength in autistic individuals may be of particular interest due to its unique developmental trajectory. While autism-specific differences in grip-brain relationships have been found in adult populations, it is possible that such differences in grip-brain relationships may be present at earlier ages when grip strength is behaviorally similar in autistic and non-autistic groups. Further, such neural differences may lead to the later emergence of diagnostic-group grip differences in adolescence. The present study sought to examine this possibility, while also examining if grip strength could elucidate the neuro-motor sources of phenotypic heterogeneity commonly observed within autism.
METHODS
Using high resolution, multi-shell diffusion, and quantitative R1 relaxometry imaging, this study examined how variations in key sensorimotor-related white matter pathways of the proprioception input, lateral grasping, cortico-cerebellar, and corticospinal networks were associated with individual variations in grip strength in 68 autistic children and 70 non-autistic (neurotypical) children (6-11 years-old).
RESULTS
In both groups, results indicated that stronger grip strength was associated with higher proprioceptive input, lateral grasping, and corticospinal (but not cortico-cerebellar modification) fractional anisotropy and R1, indirect measures concordant with stronger microstructural coherence and increased myelination. Diagnostic group differences in these grip-brain relationships were not observed, but the autistic group exhibited more variability particularly in the cortico-cerebellar modification indices. An examination into the variability within the autistic group revealed that attention-deficit/hyperactivity disorder (ADHD) features moderated the relationships between grip strength and both fractional anisotropy and R1 relaxometry in the premotor-primary motor tract of the lateral grasping network and the cortico-cerebellar network tracts. Specifically, in autistic children with elevated ADHD features (60% of the autistic group) stronger grip strength was related to higher fractional anisotropy and R1 of the cerebellar modification network (stronger microstructural coherence and more myelin), whereas the opposite relationship was observed in autistic children with reduced ADHD features.
DISCUSSION
Together, this work suggests that while the foundational elements of grip strength are similar across school-aged autistic and non-autistic children, neural mechanisms of grip strength within autistic children may additionally depend on the presence of ADHD features. Specifically, stronger, more coherent connections of the cerebellar modification network, which is thought to play a role in refining and optimizing motor commands, may lead to stronger grip in children with more ADHD features, weaker grip in children with fewer ADHD features, and no difference in grip in non-autistic children. While future research is needed to understand if these findings extend to other motor tasks beyond grip strength, these results have implications for understanding the biological basis of neuromotor control in autistic children and emphasize the importance of assessing co-occurring conditions when evaluating brain-behavior relationships in autism.
PubMed: 38808069
DOI: 10.3389/fnint.2024.1359099 -
Frontiers in Psychiatry 2024This investigation aimed to clarify the intricate relationship among depression, cognitive function, adverse childhood experiences (ACEs), and their combined influence...
AIMS
This investigation aimed to clarify the intricate relationship among depression, cognitive function, adverse childhood experiences (ACEs), and their combined influence on methamphetamine use disorder (MUD).
METHODS
Utilizing a battery of psychological tests, this study ascertained the impact of ACEs on the condition of 76 people with MUD who meet the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria, aged 42.17 on average. The Iowa Gambling Task (IGT), Conners' Continuous Performance-II (CPT-II), the self-report Severity of Dependence Scale (SDS), and the Beck Depression Inventory-II (BDI-II) were used for these evaluations. Individuals involved in the study were categorized into two discrete cohorts, mild (ME) and severe (SE), based on the extent of their ACEs exposure. This study employed the PROCESS regression, the independent t-test andχ2 tests for the analysis.
RESULTS
The findings revealed notable discrepancies in the psychological consequences between the two groups with different degrees of ACEs; however, no substantial differences were observed in the demographic parameters. The SE group exhibited elevated BDI-II scores, more evident indications of MUD, and a higher degree of CPT-II cognitive perseveration. The PROCESS model revealed that cognitive perseveration moderated the impact of depression on ACEs and subjective MUD severity, explaining 20.2% of the variance. The ACEs and depression predicted 28.6% of the variance in MUD symptoms. However, no statistically significant differences were detected between the two groups regarding the parameters in the IGT-2 assessment.
CONCLUSIONS
These results indicate that the interaction between cognitive and depressive factors mediates the effect of ACEs on subjective MUD severity but not on MUD symptoms. The ACEs significant impact on mental health severity perception is explained by cognitive and depressive factors. This implies that MUD treatment and rehabilitation should address cognitive dysfunction and developmental trauma.
PubMed: 38807693
DOI: 10.3389/fpsyt.2024.1382646 -
Health Psychology and Behavioral... 2024In recent years, a decline in sports behaviour among adolescents was observed, even though it is generally known that sports contribute to healthy development. According...
BACKGROUND
In recent years, a decline in sports behaviour among adolescents was observed, even though it is generally known that sports contribute to healthy development. According to the social cognitive theory of Bandura, outcome expectancies play an important role in the practice of health behaviour.
METHODS
This study analysed the relationship between exercise-related outcome expectancies (EOEs) and exercise behaviour among adolescent athletes, and the differences of EOEs according to age, gender and type of sport played. In an online survey = 223 (female = 140, male = 83) athletes between the age of 10-19 ( = 14.27, = 3.21) completed the Exercise-related Outcome Expectancies Questionnaire for Adolescents (EOEQ-A), as well as questions about their sociodemographic background and training behaviour.
RESULTS
A small positive correlation of psychological EOEs with the overall amount of training was discovered while expectancies about negative consequences of sports were associated with lower training efforts. Athletes between 14 and 16 years reported significantly stronger negative EOEs than younger or older participants. Regarding gender, no significant differences were found. Furthermore, a positive correlation between social EOEs and participation in team sports, as well as training in a group was found.
CONCLUSION
These results could help with adapting exercise-related interventions so that the positive expectancies of the athletes can be fulfilled and exercise behaviour among adolescents can be promoted. Future studies should investigate the relationship between changes in expectancies and changes in exercise behaviour.
PubMed: 38807654
DOI: 10.1080/21642850.2024.2356777 -
BMC Medicine May 2024This study evaluates longitudinal associations between glycaemic control, measured by mean and within-patient variability of glycated haemaglobin (HbA1c) levels, and...
BACKGROUND
This study evaluates longitudinal associations between glycaemic control, measured by mean and within-patient variability of glycated haemaglobin (HbA1c) levels, and major depressive disorder (MDD) in individuals with type 2 diabetes (T2D), focusing on the timings of these diagnoses.
METHODS
In UK Biobank, T2D was defined using self-report and linked health outcome data, then validated using polygenic scores. Repeated HbA1c measurements (mmol/mol) over the 10 years following T2D diagnosis were outcomes in mixed effects models, with disease duration included using restricted cubic splines. Four MDD exposures were considered: MDD diagnosis prior to T2D diagnosis (pre-T2D MDD), time between pre-T2D MDD diagnosis and T2D, new MDD diagnosis during follow-up (post-T2D MDD) and time since post-T2D MDD diagnosis. Models with and without covariate adjustment were considered.
RESULTS
T2D diagnostic criteria were robustly associated with T2D polygenic scores. In 11,837 T2D cases (6.9 years median follow-up), pre-T2D MDD was associated with a 0.92 increase in HbA1c (95% CI: [0.00, 1.84]), but earlier pre-T2D MDD diagnosis correlated with lower HbA1c. These pre-T2D MDD effects became non-significant after covariate adjustment. Post-T2D MDD individuals demonstrated increasing HbA1c with years since MDD diagnosis ( , 95% CI: [0.17, 0.86]). Retrospectively, across study follow-up, within-patient variability in HbA1c was 1.16 (95% CI: 1.13-1.19) times higher in post-T2D MDD individuals.
CONCLUSIONS
The timing of MDD diagnosis is important for understanding glycaemic control in T2D. Poorer control was observed in MDD diagnosed post-T2D, highlighting the importance of depression screening in T2D, and closer monitoring for individuals who develop MDD after T2D.
Topics: Humans; Diabetes Mellitus, Type 2; Longitudinal Studies; Middle Aged; Male; Female; United Kingdom; Depressive Disorder, Major; Glycated Hemoglobin; Aged; Glycemic Control; Biological Specimen Banks; Primary Health Care; Adult; Cohort Studies; UK Biobank
PubMed: 38807170
DOI: 10.1186/s12916-024-03425-9