Objectives: Individuals with Down syndrome (DS) have a higher incidence of hearing loss (HL) compared with their peers without developmental disabilities. Little is known about the associations between HL and functional hearing for individuals with DS. This study investigated two aspects of auditory functions, "what" (understanding the content of sound) and "where" (localizing the source of sound), in young adults with DS.
View Article and Find Full Text PDFNeuropsychopharmacology
August 2024
Web-based testing is an appealing option for expanding psychoacoustics research outside laboratory environments due to its simple logistics. For example, research participants partake in listening tasks using their own computer and audio hardware and can participate in a comfortable environment of their choice at their own pace. However, it is unknown how deviations from conventional in-lab testing affect data quality, particularly in binaural hearing tasks that traditionally require highly precise audio presentation.
View Article and Find Full Text PDFObjective: Investigate hearing preservation and spatial hearing outcomes in children with TMPRSS3 mutations who received bilateral cochlear implantation.
Study Design And Methods: Longitudinal case series report. Two siblings (ages, 7 and 4 yr) with TMPRSS3 mutations with down-sloping audiograms received sequential bilateral cochlear implantation with hearing preservation with low-frequency acoustic amplification and high-frequency electrical stimulation.
Little is understood about the embryonic development of sociality. We screened 1120 known drugs and found that embryonic inhibition of topoisomerase IIα (Top2a) resulted in lasting social deficits in zebrafish. In mice, prenatal Top2 inhibition caused defects in social interaction and communication, which are behaviors that relate to core symptoms of autism.
View Article and Find Full Text PDFFlagellar motility is essential for the cell morphology, viability, and virulence of pathogenic kinetoplastids. Trypanosoma brucei flagella beat with a bending wave that propagates from the flagellum's tip to its base, rather than base-to-tip as in other eukaryotes. Thousands of dynein motor proteins coordinate their activity to drive ciliary bending wave propagation.
View Article and Find Full Text PDFThe dynein family of microtubule minus-end-directed motor proteins drives diverse functions in eukaryotic cells, including cell division, intracellular transport, and flagellar beating. Motor protein processivity, which characterizes how far a motor walks before detaching from its filament, depends on the interaction between its microtubule-binding domain (MTBD) and the microtubule. Dynein's MTBD switches between high- and low-binding affinity states as it steps.
View Article and Find Full Text PDFThe enzyme monoamine oxidase A (MAOA) catalyzes the degradation of several neurotransmitters, including serotonin. A large body of evidence has shown that genetic MAOA deficiency predisposes humans and mice to aggression and antisocial behavior. We previously documented that the aggression of male MAOA-deficient mice is contributed by serotonin 5-HT and glutamate N-methyl-D-aspartate (NMDA) receptors in the prefrontal cortex (PFC).
View Article and Find Full Text PDFRight Direction (RD) was a component of a universal employee wellness program implemented in 2014 at Kent State University (KSU) to increase employees' awareness of depression, reduce mental health stigma, and encourage help-seeking behaviors to promote mental health. We explored changes in mental health care utilization before and after implementation of RD. KSU Human Resources census and service use data were used to identify the study cohort and examine the study objectives.
View Article and Find Full Text PDFJ Intellect Disabil Res
January 2022
Background: This study examined the association between executive functioning and language in young adults with Down syndrome (DS).
Method: Nineteen young adults with DS (aged 19-24 years) completed standardised measures of overall cognition, vocabulary, verbal fluency and executive function skills.
Results: Friedman's analysis of variance (χ (3) = 28.
Thiamine pyrophosphate (TPP) riboswitches regulate thiamine metabolism by inhibiting the translation of enzymes essential to thiamine synthesis pathways upon binding to thiamine pyrophosphate in cells across all domains of life. Recent work on the Arabidopsis thaliana TPP riboswitch suggests a multi-step TPP binding process involving multiple riboswitch configurational ensembles and that Mg2+ dependence underlies the mechanism of TPP recognition and subsequent transition to the expression-inhibiting state of the aptamer domain followed by changes in the expression platform. However, details of the relationship between TPP riboswitch conformational changes and interactions with TPP and Mg2+ ¬¬in the aptamer domain constituting this mechanism are unknown.
View Article and Find Full Text PDFIntroduction: Dramatic growth of the aging population resulted in an increased number of mental disorders and such data are limited in Nepal. The objective is to find out the psychiatric morbidities of elderly out-patients attending Baglung, Kusma, Walling, and Dumre out-reach clinics in Gandaki Province of Nepal.
Methods: This was a descriptive cross-sectional study conducted in 392 patients attending out-reach clinics of Baglung, Kusma, Walling, and Dumre of Gandaki Province for one year with the convenient sampling method.
Finasteride (FIN) is the prototypical inhibitor of steroid 5α-reductase (5αR), the enzyme that catalyzes the rate-limiting step of the conversion of progesterone and testosterone into their main neuroactive metabolites. FIN is clinically approved for the treatment of benign prostatic hyperplasia and male baldness; while often well-tolerated, FIN has also been shown to cause or exacerbate psychological problems in vulnerable subjects. Evidence on the psychological effects of FIN, however, remains controversial, in view of inconsistent clinical reports.
View Article and Find Full Text PDFKathmandu Univ Med J (KUMJ)
December 2020
Background There have been growing interests in the association between vitamin D and depression in recent years. Objective The objective of this study was to find the prevalence of low vitamin D level in the patients suffering from depressive episodes. The next objective was to determine whether there are any statistically significant differences between the mean vitamin D levels of different sociodemographic variables and also to find the sociodemographic variables predicting the vitamin D level.
View Article and Find Full Text PDFThe ontogeny of antisocial behavior (ASB) is rooted in complex gene-environment (G×E) interactions. The best-characterized of these interplays occurs between: a) low-activity alleles of the gene encoding monoamine oxidase A (MAOA), the main serotonin-degrading enzyme; and b) child maltreatment. The purpose of this study was to develop the first animal model of this G×E interaction, to help understand the neurobiological mechanisms of ASB and identify novel targets for its therapy.
View Article and Find Full Text PDFIn recent years, cochlear implants (CIs) have been provided in growing numbers to people with not only bilateral deafness but also to people with unilateral hearing loss, at times in order to alleviate tinnitus. This study presents audiological data from 15 adult participants (ages 48 ± 12 years) with single sided deafness. Results are presented from 9/15 adults, who received a CI (SSD-CI) in the deaf ear and were tested in Acoustic or Acoustic + CI hearing modes, and 6/15 adults who are planning to receive a CI, and were tested in the unilateral condition only.
View Article and Find Full Text PDFThe enzyme steroid 5α-reductase 2 (5αR2) catalyzes the conversion of testosterone into the potent androgen 5α-dihydrotestosterone. Previous investigations showed that 5αR2 is expressed in key brain areas for emotional and socio-affective reactivity, yet the role of this enzyme in behavioral regulation remains mostly unknown. Here, we profiled the behavioral characteristics of 5αR2 heterozygous (HZ) and knockout (KO) mice, as compared with their wild-type (WT) littermates.
View Article and Find Full Text PDFThe ability to predict if a given mutation is disease-causing or not has enormous potential to impact human health. Typically, these predictions are made by assessing the effects of mutation on macromolecular stability and amino acid conservation. Here we report a novel feature: the electrostatic component of the force acting between a kinesin motor domain and tubulin.
View Article and Find Full Text PDFChildren who are deaf and receive bilateral cochlear implants (BiCIs) perform better on spatial hearing tasks using bilateral rather than unilateral inputs; however, they underperform relative to normal-hearing (NH) peers. This gap in performance is multi-factorial, including the inability of speech processors to reliably deliver binaural cues. Although much is known regarding binaural sensitivity of adults with BiCIs, less is known about how the development of binaural sensitivity in children with BiCIs compared to NH children.
View Article and Find Full Text PDFTourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and phonic tics. While TS patients have been also shown to exhibit subtle abnormalities of sensorimotor integration and gait, animal models of this disorder are seldom tested for these functions. To fill this gap, we assessed gait and sensorimotor integration in the D1CT-7 mouse, one of the best-validated animal models of TS.
View Article and Find Full Text PDFTourette syndrome (TS) is a neurodevelopmental condition characterized by multiple, recurring motor and phonic tics. Rich empirical evidence shows that the severity of tics and associated manifestations is increased by several stressors and contextual triggers; however, the neurobiological mechanisms responsible for symptom exacerbation in TS remain poorly understood. This conceptual gap partially reflects the high phenotypic variability in tics, as well as the existing difficulties in operationalizing and standardizing stress and its effects in a clinical setting.
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