1,078 research outputs found
Unique contributions of anxiety, stress and depression to immunity: A cross-cultural investigation
No full textWhile immunity and psychological distress are strongly associated, studies seldom consider how different types of distress relate to immune functioning. The literature tends to emphasis the impact of stress on immunity. The present cross-sectional study estimated the unique contributions of depression, anxiety, and stress on immune function in culturally diverse samples of adults from Italy, New Zealand and India. Participants were Italian (n = 1061), New Zealand (n = 1037), and Indian (n = 384) volunteers. Stepwise multiple linear regression and dominance analysis were used to analyse differences in immunity uniquely explained by anxiety, depression, and stress. While samples from the three countries differed signifcantly, anxiety consistently explained the greatest proportion of differences in immunity. After accounting for the effect of anxiety, stress and depression explained only negligible variation in immune functioning. This association of anxiety with immune functioning was consistent across three different countries and this unique impact was further confrmed by the results of dominance analysis. These fndings suggest a clear link between anxiety and immunity, which advances the prevailing stress-disease model and foster further experimental and longitudinal research into the impact of anxiety on immunity
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
No full text: We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
No full textThe gene MEG3 is located in the imprinted human chromosomal region on 14q32. Imprinting of a structurally homologous region IGF2/H19 on 11p15 is mediated through cytosine methylation-controlled binding of the protein CTCF to target sites upstream of H19. We identified five new CTCF binding sites around the promoter of MEG3. Using an electrophoretic mobility shift assay, we showed that these sites bind CTCF in vitro. Using one of these sites, chromatin immunoprecipitation (ChIP) analysis confirmed CTCF binding in-vivo, and differential allele-specific methylation was demonstrated in seven individuals with either maternal or paternal uniparental disomy 14 (UPD14). The site was unmethylated on the maternally inherited chromosomes 14 and methylated on the paternally inherited chromosomes 14, suggesting parent-specific methylation of sequences upstream of MEG3. We speculate that this CTCF-binding region may provide a mechanism for the transcriptional regulation of MEG3 and DLK1.Fil: Rosa, Alberto Luis. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina. Washington State University; Estados UnidosFil: Wu, Yuan Qing. Baylor College of Medicine; Estados UnidosFil: Kwabi Addo, Bernard. Baylor College of Medicine; Estados UnidosFil: Coveler, Karen J.. Baylor College of Medicine; Estados UnidosFil: Sutton, V. Reid. Baylor College of Medicine; Estados UnidosFil: Shaffer, Lisa G.. Washington State University; Estados Unido
‐related intellectual disability syndrome (White‐Sutton syndrome)
No full textWhite-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants. We observed a broad spectrum of intellectual disability and/or developmental delay with or without autism, and speech delay in all individuals. Other common problems included ocular abnormalities, hearing loss and gait abnormalities. A validated sleep disordered breathing questionnaire identified symptoms of obstructive sleep apnea in 4/12 (33%) individuals. A higher-than-expected proportion of cases also had gastrointestinal phenotypes, both functional and anatomical, as well as genitourinary anomalies. In line with previous publications, we observed an increased body mass index (BMI) z-score compared to the general population (mean 0.59, median 0.9; p 0.0253). Common facial features included microcephaly, broad forehead, midface hypoplasia, triangular mouth, broad nasal root and flat nasal bridge. Analysis of the Baylor Genetics clinical laboratory database revealed that POGZ variants were implicated in approximately 0.14% of cases who underwent clinical exome sequencing for neurological indications with or without involvement of other body systems. This study describes a greater allelic series and expands the phenotypic spectrum of this new syndromic form of intellectual disability and autism
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
No full textAdenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The biochemical phenotype of ADSL deficiency, accumulation of SAICAr and succinyladenosine (S-Ado) in biofluids of affected individuals, serves as the traditional target for diagnosis with targeted quantitative urine purine analysis employed as the predominate method of detection. In this study, we report the diagnosis of ADSL deficiency using an alternative method, untargeted metabolomic profiling, an analytical scheme capable of generating semi-quantitative z-score values for over 1000 unique compounds in a single analysis of a specimen. Using this method to analyze plasma, we diagnosed ADSL deficiency in four patients and confirmed these findings with targeted quantitative biochemical analysis and molecular genetic testing. ADSL deficiency is part of a large a group of neurometabolic disorders, with a wide range of severity and sharing a broad differential diagnosis. This phenotypic similarity among these many inborn errors of metabolism (IEMs) has classically stood as a hurdle in their initial diagnosis and subsequent treatment. The findings presented here demonstrate the clinical utility of metabolomic profiling in the diagnosis of ADSL deficiency and highlights the potential of this technology in the diagnostic evaluation of individuals with neurologic phenotypes
Preface to Philosophy and Memory Traces: Descartes to connectionism
No full textPhilosophy and Memory Traces, the book to which this is the preface, defends two theories of autobiographical memory. One is a bewildering historical view of memories as dynamic patterns in fleeting animal spirits, nervous fluids which rummaged through the pores of brain and body. The other is new connectionism, in which memories are stored only superpositionally, and are reconstructed rather than reproduced. Both models depart from static archival metaphors by employing distributed representation, which brings interference and confusion between memory traces. Both raise urgent issues about control of the personal past, and about relations between self and body. The books historical argument is anchored by a reinterpretation of Descartes dynamic physiology of memory and strange
philosophy of the body. English critics of Descartes view of memories as motions complained that mechanistic neurophilosophy could not guarantee order in memory, and instead sought techniques for controlling the brain. In a new account of 18th-century philosophers fears of confusion in remembering, the author demonstrates the role of bizarre body fluids in moral physiology, as philosophers from Locke to Reid and Coleridge struggled to control their own innards and impose cognitive discipline on the phantasmal chaos of association. Finally, in a defence of connectionism against Jerry Fodor and against phenomenological and Wittgensteinian critics of passive mental representations, the author shows how problems of the self are implicated in contemporary sciences of mind. The book is an experiment in historical cognitive science, based on a belief that the interdisciplinary study of memory can exemplify the simultaneous attention to brain, body, and culture towards which psychological sciences must aim
What (actually) matters in literacy education: Contributions from community psychology
No full textThis paper describes the critical role community psychology theories played in reframing literacy research involving mainly Māori and Pacific peoples’ extended families and communities. Within a critical social constructionist paradigm, ecological systems theory and holistic, integrative theories of wellbeing brought much-needed new thinking to how family-focused adult literacy education might be theorised and practiced. This reframing marks a challenge to and movement away from still-dominant Western individualistic, behavioural orientated, skills-based and formal economy-focused ways of thinking about people’s literacy abilities. It highlights the important role of community psychology in developing theory, informing policy and enhancing practices in culturally diverse education settings to achieve both educational and quality of life aims. Improving quality of life is not possible through literacy education in and of itself, but rather through the inculcation in programme design and delivery of those things which are fundamental and critical to the participants’ overall wellbeing and welfare
Skeletal Dysplasias in the Newborn: Diagnostic Evaluation and Developmental Genetics
No full textMany of the genetic disorders of skeletal development lead to significant morbidity and mortality in utero or in the early neonatal period. Due to the large number and heterogeneous nature of these disorders, their diagnosis and management can be overwhelming. A basic knowledge of skeletal development and a structured, comprehensive approach to the history, physical examination, and interpretation of radiographic studies are crucial. Understanding the power and limitations of prenatal diagnostic technology and genetic testing is essential for accurate counseling and judicious use of resources. Finally, familiarity with individual disorders and online resources aids the neonatologist in coordinating the complex, multidisciplinary care that these infants demand in the neonatal intensive care unit (NICU) and after hospital discharge.</jats:p
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