The effects of social comparison and depressive mood on adolescent social decision-making

Background: Based on social comparison theory, two experiments were conducted to explore the effects of depression and social comparison on adolescents, using the ultimatum game (UG). Methods: Before the formal experiment began, a preliminary experiment tested the effectiveness of social comparison settings. This study used the UG paradigm to explore adolescents’ social decision-making in the context of gain and loss through two experiments. These experiments were designed as a 2 (group: depressive mood group, normal mood group) × 2 (social comparison: upward, downward) × 3 (fairness level: fair 5:5, unfair 3:7, extremely unfair 1:9) three-factor hybrid study. Results: (1) The fairer the proposal was, the higher the sense of fairness participants felt, and the higher their acceptance rate. (2) The acceptance rate of the participants for downward social comparison was significantly higher than that for upward social comparison, but there was no difference in fairness perception between the two social comparisons. (3) Under the context of gain, the acceptance rate of the depressive mood group was higher than that of the normal mood group, but there was no difference in the acceptance rate between the depressive mood group and the normal mood group under the loss context. Depressive mood participants had more feelings of unfairness in the contexts of both gain and loss. (4) The effects of depressive mood, social comparison and the fairness level of distribution on social decision-making interact. Conclusions: The interaction of social comparison, depressive mood and proposal type demonstrates that besides one’s emotion, cognitive biases and social factors can also have an effect on social decision-making. These findings indicate that behavioral decision boosting may provide an avenue for appropriate interventions in helping to guide adolescents to make social decisions

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021Peer reviewe

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline. Our findings expand the spectrum of DNA variants and phenotypes associated with DDX3X disorders

Polyurethane‐polypyrrole hybrid structural color films for dual‐signal mechanics sensing

Abstract The monitoring of mechanical indexes involved in body movement has attracted immense interest in the diagnosis of neurodegenerative diseases. Here, we present a hybrid flexible conductive structural color (SC) film with the capability of dual‐signal mechanics screening. The film is constructed by oxidatively polymerizing pyrrole on the surface of an inverse opal polyurethane (IPU) membrane, which can be utilized to measure the mechanical indexes through resistance change. Owing to the inverse opal structure, the film shows visual structural color change when stretched and released according to the body movement. Additionally, the highly uniform ordered porous structure endows the conductive film with a lower coefficient of variance on relative resistance change. Benefiting from these features, we have demonstrated that such a flexible conductive SC film could monitor Parkinson's disease (PD) by detecting mechanical indexes simultaneously via dual signals. These features indicate the great value of the stretchable conductive SC films in mechanics sensing applications

Egg Component-Composited Inverse Opal Particles for Synergistic Drug Delivery

Microparticles have a demonstrated value in drug delivery systems. The attempts to develop this technology focus on the generation of functional microparticles by using innovative but accessible materials. Here, we present egg component-composited microparticles with a hybrid inverse opal structure for synergistic drug delivery. The egg component inverse opal particles were produced by using egg yolk to negatively replicate colloid crystal bead templates. Because of their huge specific surface areas, abundant nanopores, and complex nanochannels of the inverse opal structure, the resultant egg yolk particles could be loaded with different kinds of drugs, such as hydrophobic camptothecin (CPT), by simply immersing them into the corresponding drug solutions. Attractively, additional drugs, such as the hydrophilic doxorubicin (DOX), could also be encapsulated into the particles through the secondary filling of the drug-doped egg white hydrogel into the egg yolk inverse opal scaffolds, which realized the synergistic drug delivery for the particles. It was demonstrated that the egg-derived inverse opal particles were with large quantity and lasting releasing for the CPT and DOX codelivery, and thus could significantly reduce cell viability, and enhance therapeutic efficacy in treating cancer cells. These features of the egg component-composited inverse opal microparticles indicated that they are ideal microcarriers for drug delivery

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germ-line TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features emerging as key unifying features. The identified variants are de novo in six individuals and comprise four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant that is recurrent in four individuals. These variants affect evolutionarily conserved amino acids and are located in key functional domains. Gene-specific mutation rate analysis showed that the occurrence of the de novo variants in TRAF7 (p = 2.6 x 10(-3)) and the recurrent de novo c.1964G>A (p.Arg655Gln) variant (p = 1.9 x 10(-8)) in our exome cohort was unlikely to have occurred by chance. In vitro analyses of the observed TRAF7 mutations showed reduced ERK1/2 phosphorylation. Our findings suggest that missense mutations in TRAF7 are associated with a multisystem disorder and provide evidence of a role for TRAF7 in human development

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. We also describe two families with biallelic variants in ATAD3A, including a homozygous variant in two siblings, and biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. Tissue-specific overexpression of borR534W, the Drosophila mutation homologous to the human c.1582C>T (p.Arg528Trp) variant, resulted in a dramatic decrease in mitochondrial content, aberrant mitochondrial morphology, and increased autophagy. Homozygous null bor larvae showed a significant decrease of mitochondria, while overexpression of borWT resulted in larger, elongated mitochondria. Finally, fibroblasts of an affected individual exhibited increased mitophagy. We conclude that the p.Arg528Trp variant functions through a dominant-negative mechanism that results in small mitochondria that trigger mitophagy, resulting in a reduction in mitochondrial content. ATAD3A variation represents an additional link between mitochondrial dynamics and recognizable neurological syndromes, as seen with MFN2, OPA1, DNM1L, and STAT2 mutations