Down syndrome (Ds) is associated with congenital heart defects at birth, but cardiac function has not been assessed at older ages. We used the Ts65Dn mouse, a model of Ds, to quantify heart structure and function with echocardiography in 18-month male Ts65Dn and WT mice. Heart weight, nicotinamide adenine dinucleotide (NAD) signaling, and mitochondrial (citrate synthase) activity were investigated, as these pathways may be implicated in the cardiac pathology of Ds. The left ventricle was smaller in Ts65Dn vs WT, as well as the anterior wall thickness of the left ventricle during both diastole (LVAW_d; mm) and systole (LVAW_s; mm) as assessed by echocardiography. Other functional metrics were similar between groups including left ventricular area end-systole (mm ² ), left ventricular area end-diastole (mm ² ), left ventricular diameter end-systole (mm), left ventricular diameter end-diastole (mm), isovolumetric relaxation time (ms), mitral valve atrial peak velocity (mm/s), mitral valve early peak velocity (mm/s), ratio of atrial and early peak velocities (E/A), heart rate (bpm), ejection fraction (%), and fractional shortening (%). Nicotinamide phosphoribosyltransferase (NAMPT) protein expression, NAD concentration, and tissue weight were lower in the left ventricle of Ts65Dn vs. WT mice. Sirtuin 3 (SIRT3) protein expression and citrate synthase activity were not different between groups. Although cardiac function was generally preserved in male Ts65Dn, the altered heart size and bioenergetic disturbances may contribute to differences in aging for Ds.
Sport psychology scholars and practitioners (SPPs) now recognize the importance of cultural competence (CC). However, only a few SPPs have deliberately centered CC in their practice. The purpose of this study was to understand how SPPs conceptualize and develop CC within their professional practice. Our study is grounded in a critical realist ontology and framed within the consensual qualitative research method (CQR). Using a semi-structured interview guide, we interviewed 25 globally situated SPPs (13 males, 12 females) with three to 40 years of professional experience (17.83, SD = 10.88) residing on four different continents. We constructed seven categories to provide a snapshot of how SPPs conceptualize, develop, and emphasize CC as an ethical and moral obligation to engage in effective professional practice. The participating SPPs described how CC is contextual and encompasses one’s cultural knowledge, awareness, and skills developed from professional and personal cultural interactions and investment in cultural professional development. The SPPs shared how CC plays a relevant role in their sport psychology practice. We also highlighted how culture and CC are frequently conceptualized and experienced from a one-dimensional perspective, overlooking the importance of how cultural identities and modes of being interact within and between SPPs and clients or participants. The implications for individuals and professional bodies are discussed for professional development, training, and effective practice. Lay summary: Cultural competence is an ethical and moral obligation for SPPs to engage in effective professional practice. In this study, a multinational group of SPPs shared how they conceptualize, develop, and implement cultural competence within their professional practice. • Applied Implications • The development of and deliberate consideration of CC into applied and scholarly practice is an ethical and moral responsibility • It is important for SPPs to invest in developing their CC, becoming comfortable with making mistakes, and engaging in difficult conversations. • It is important for SPPs to ground their CC development in their own reflections as well as personal and professional cultural encounters.
Previous scholarship has provided a broad overview of demographic trends in secondary school music enrolment across the United States. However, there exists a gap in the literature in how students with disabilities are represented in school music, and the demographics of students enrolled in experiences outside of band, orchestra, and choir. Therefore, the purpose of this study was to examine demographic trends in music courses across New York, which has implemented a variety of course offerings that exist outside of band, orchestra, and choir. Using data obtained from the State Department of Education's Student Information Repository System (SIRS), this article provides a profile of school music in the state. Results demonstrate how students with disabilities are underrepresented in school music programmes and differences in participation by race, gender, socioeconomic status, and native language across a variety of traditional and non-traditional school music experiences. Specific music experiences, such as Guitar and Piano, help to balance the demographic profile of school music programmes with disproportionately White and more affluent large ensemble courses. ARTICLE HISTORY
DDX3X is a multifunctional ATP‐dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle control, innate immunity, apoptosis and tumorigenesis. Variants in DDX3X have been associated with a developmental disorder named intellectual developmental disorder, X‐linked syndromic, Snijders Blok type (MRXSSB, MIM #300958) or DDX3X neurodevelopmental disorder (DDX3X‐NDD). DDX3X‐NDD is mainly characterized by intellectual disability, brain abnormalities, hypotonia and behavioral problems. Other common findings include gastrointestinal abnormalities, abnormal gait, speech delay and microcephaly. DDX3X‐NDD is predominantly found in females who carry de novo variants in DDX3X . However, hemizygous pathogenic DDX3X variants have been also found in males who inherited their variants from unaffected mothers. To date, more than 200 patients have been reported in the literature. Here, we describe 34 new patients with a variant in DDX3X and reviewed 200 additional patients previously reported in the literature. This article describes 34 additional patients to those already reported, contributing with 25 novel variants and a deep phenotypic characterization. A clinical review of our cohort of DDX3X‐NDD patients is performed comparing them to those previously published.
This paper explains the contradictory findings on the relationship between stress and work engagement by including appraisals as a driving mechanism through which job stressors influence engagement. In doing so, it explores whether stressors categorised as either challenging or hindering can be appraised simultaneously as both. Second, it investigates whether stress mindset explains not only how stressors are appraised, but also how appraisals influence engagement. Over five workdays, 487 Canadian and American full-time employees indicated their stress mindset and appraised numerous challenging and hindering stressors, after which they self-reported their engagement at work. Results showed that employees rarely appraised stress as uniquely challenging or hindering. Moreover, when employees harbored positive views about stress, stressors overall were evaluated as less hindering and hindrance stressors were particularly more challenging. Stress mindset appears to be critical in modulating the genesis of stress appraisals. In turn, appraisals explained the stressor-engagement relationship, with challenge and hindrance stressors boosting and hampering engagement, respectively. Finally, positive stress mindset buffered the negative effect of hindrance appraisals on engagement. Our findings clarify misconceptions about how workplace stressors impact engagement and offer novel evidence that stress mindset is a key factor in stress at work.
Individuals with Down Syndrome are at increased risk of respiratory infection, aspiration pneumonia, and apnea. The Ts65Dn mouse is a commonly used model of Ds, but there have been no formal investigations of awake breathing and respiratory muscle function in these mice. We hypothesized that breathing would be impaired in Ts65Dn vs. wild-type (WT), and would be mediated by both neural and muscular inputs. Baseline minute ventilation with room air was not different at 3, 6 or 12 months of age. However, VT/Ti, a marker of the neural drive to breathe, was lower in Ts65Dn vs. WT. Central apneas were more prevalent in Ts65Dn compared to WT. The response to breathing hypoxia was not different, but the response to hypercapnia was attenuated in Ts65Dn at 3 and 12 months, revealing a difference in carbon dioxide sensing, and/or motor output. Oxygen desaturations were present in room air, demonstrating that ventilation may not be sufficient to maintain adequate oxygen saturation in Ts65Dn. We observed no differences in arterial PO2 or PCO2, but Ts65Dn mice had lower hemoglobin and hematocrit. A retrospective medical record review of 52 346 Ds and 52 346 controls confirmed an elevated relative risk of anemia in Ds individuals. To determine the muscular contribution to respiratory impairment, we performed eupneic in vivo electromyography and in vitro muscle function and histological fiber typing of the diaphragm, and found no difference between strains. Overall, conscious respiration is impaired in Ts65Dn mice, is mediated by neural mechanisms, and results in reduced hemoglobin saturation. Oxygen carrying capacity is reduced in Ts65Dn vs. WT, and we demonstrate that individuals with Ds are also at increased risk of anemia.
Data from two U.S. online samples ( N = 613) indicated that conservatives consistently perceived face mask use as less important than did liberals. This difference was attenuated with high counterfactual engagement. Both studies provide correlational evidence of this robust moderation. Study 2 provides further insight into differences between liberals' and conservatives' emotional responses to COVID‐19 information, and suggests that during on‐going negative events, downward counterfactuals may not provide relief. Overall, these studies document the politicization of public health behavior, and find that emphasizing the causal links between behavior and COVID‐19 prevention may improve conservatives' attitudes toward CDC guidelines.
Secret Sharers traces a genealogy of secret sharing between literary modernism and psychoanalysis, focusing on the productive entanglements and intense competitive rivalries that helped shape Anglo-American modernism as a field. Such rivalries played out in explicit criticism, inventive misreadings, and revisions of Freudian forms—from D.H. Lawrence’s redescriptions of the Freudian unconscious to Vladimir Nabokov’s parodies of the Freudian case study. While some modernists engaged directly with Freud and Freudian psychoanalysis with unmistakable rivalry and critique, others wrestled in more complex ways with Freud’s legacy. The key protagonists of this study—D.H. Lawrence, Virginia Woolf, W.H. Auden, and Vladimir Nabokov—are noteworthy for the way they engaged with, popularized, and revised the terms of psychoanalysis, while also struggling with it as an encroaching discourse. Modernists read psychoanalysis, misread psychoanalysis, and sometimes refused to read it altogether, while expressing anxiety about being read by psychoanalysts. As analysts, such as Freud, Ernest Jones, and Alfred Kuttner turned to literature and art to illustrate psychoanalytic theories, modernists expressed ambivalence about the probing, symptomatic style of psychoanalytic interpretation and responded with a redoubling of arguments on behalf of aesthetic autonomy, formal self-consciousness, and amateurism. Secret Sharers reveals how modernists transformed the hermeneutic and diagnostic priorities of psychoanalysis into novel aesthetic strategies and distinctive modes of critical engagement. This book also suggests that modernist responses to psychoanalytic criticism anticipate more recent critical discussions of the value of “symptomatic” reading and the “hermeneutics of suspicion.”
Lamb–Shaffer Syndrome (LSS; OMIM #616803; ORPHA #313892; ORPHA #313884) is an infrequent genetic disorder that affects multiple aspects of human development especially those related to the development of the nervous system. LSS is caused by variants in the SOX5 gene. At the molecular level, SOX5 gene encodes for a transcription factor containing a High Mobility Group (HMG) DNA‐Binding domain with relevant functions in brain development in different vertebrate species. Clinical features of Lamb–Shaffer syndrome may include intellectual disability, delayed speech and language development, attention deficits, hyperactivity, autism spectrum disorder, visual problems and seizures. Additionally, patients with the syndrome may present distinct facial dimorphism such as a wide mouth with full lips, small chin, broad nasal bridge, and deep‐set eyes. Other physical features that have been reported in some patients include short stature, scoliosis, and joint hypermobility. Here, we report the clinical and molecular characterization of a Spanish LSS cohort of new 20 patients and review all the patients published so far which amount for 111 patients. The most frequent features included developmental delay, intellectual disability, visual problems, poor speech development and facial dysmorphic features. Strikingly, pain insensitivity and hypermetropia seems to be more frequent than previously reported, based on the frequency seen in the Spanish cohort. Eighty‐three variants have been reported so far, single nucleotide variants (SNV) and copy number variants represent 47% and 53%, respectively, from the total of variants reported. Similarly to previous reports, the majority of the SNVs variants of the novel patients reported herein fall in the HMG domain of the protein. However, new variants, affecting other functional domains, were also detected. In conclusion, LLS is a rare genetic disorder mostly characterized by a wide range of developmental and neurological symptoms. Early diagnosis would allow to start of care programs, clinical follow up, prospective studies and appropriate genetic counseling, to promote clinical and social improvement to have profound lifelong benefits for patients and their families. Further research is needed to better understand the underlying mechanisms of the syndrome related to SOX5 haploinsufficiency.
To what extent do men objectify and dehumanize Black and White women based on shifting standards of sexuality? Across five experimental studies (2 pre-registered; N = 702), White (Studies 1-4a) and Black (Study 4b) American heterosexual men evaluated a series of images of Black and White women who were either fully- or scantily-clothed, and provided ratings of sexual objectification, animalistic dehumanization, and perceived appropriateness of the image for use in advertising. Participants responded to images of fully-clothed Black women with greater sexual objectification and animalistic dehumanization, and lower appropriateness, compared to fully-clothed White women. However, scantily-clothed White women elicited greater sexual objectification and animalistic dehumanization, and lower attributions of appropriateness compared to scantily-clothed Black women. These race interactions with clothing type support a default objectification hypothesis for Black women, and a shifting standards of sexuality hypothesis for White women. An internal meta-analysis across the five experiments further supported these two hypotheses. This research illuminates the importance of examining racialized sexual objectification in terms of distinct group-specific perceptions and attributions. Implications of this intersectional account of objectification for intergroup relations are discussed.
Background: Alouatta palliata palliata are an ecologically flexible howler monkey subspecies that has recently been relisted as Endangered. Populations are declining through much of the subspecies' range, including at our study site at La Pacifica, Costa Rica. Our objectives were to screen blood hematology and biochemistry samples collected from this wild population to elucidate their baseline health. Methods: We collected blood samples from 38 adult individuals from across the study site and analyzed 13 hematology and 14 biochemistry parameters. Results: Most hematology and blood biochemistry parameter values were similar between males and females. However, mean hemoglobin was significantly lower, and mean white blood cell count was significantly higher in females; and mean calcium and mean creatinine were significantly lower in females compared to males. Conclusions: Overall, the La Pacifica population appeared healthy based on the blood parameters analyzed from sampled individuals. Our results were also largely consistent with published data available from other populations of A. p. palliata, and with reference values for captive Alouatta caraya.
Objectives: There is currently no research reporting solely on outcomes of voice and communication modification training (VCMT) in individuals who identify as non-binary and genderqueer (NBGQ) in the English literature. This study aimed to describe the objective and subjective impact of VCMT on the voice of NBGQ individuals undergoing a 12-week gender-affirming VCMT program. Methods: A retrospective consecutive case series of NBGQ individuals enrolled in a VCMT program was performed. Demographics, Transgender Self-Evaluation Questionnaire (TSEQ), fundamental frequency (F0), and frequency range were collected before and after the program. Results: Four NBGQ individuals enrolled between January 2019 and June 2021; the mean age was 27.0 years. While all four participants represented in this case series showed improvement in at least one of their initial goals, only one improved both their F0 and TSEQ scores; the other three participants had mixed results. Conclusion: NBGQ individuals experienced improvements in self-reported outcomes and changes in acoustic measures after completing VCMT in our case series. Individuals experienced significant improvement in subjective outcomes despite small changes in acoustic measures, and vice versa. More research is needed to better understand the voice and communication needs of NBGQ individuals, along with their outcomes with VCMT. Level of evidence: Level 4.
Citation: Pascual, P.; Tenorio-Castano, J.; Mignot, C.; Afenjar, A.; Arias, P.; Gallego-Zazo, N.; Parra, A.; Miranda, L.; Cazalla, M.; Silván, C.; et al. Snijders Abstract: Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neu-rodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose Genes 2023, 14, 1664. https://doi.org/10.3390/genes14091664 https://www.mdpi.com/journal/genes Genes 2023, 14, 1664 2 of 12 and pointed chin. The severity of the neurological effects as well as the presence of other features is variable among subjects. SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with SNIBCPS from 17 unrelated families with confirmed likely pathogenic/pathogenic variants in CHD3. Patients were analyzed by whole exome sequencing and segregation studies were performed by Sanger sequencing. Patients in this study showed different pathogenic variants affecting several functional domains of the protein. Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder/delay (92%). Other frequent features (51-74%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others. This study expands the number of individuals with confirmed SNIBCPS due to pathogenic or likely pathogenic variants in CHD3. Furthermore, we add evidence of the importance of the application of massive parallel sequencing for NDD patients for whom the clinical diagnosis might be challenging and where deep phenotyping is extremely useful to accurately manage and follow up the patients.
Institution pages aggregate content on ResearchGate related to an institution. The members listed on this page have self-identified as being affiliated with this institution. Publications listed on this page were identified by our algorithms as relating to this institution. This page was not created or approved by the institution. If you represent an institution and have questions about these pages or wish to report inaccurate content, you can contact us here.