Evolution (N Y)
March 2023
Background: Museum displays commonly use a "VIST" approach (Variation, Inheritance, Selection, and Time) to explain evolution to visitors. I contend that this framework, by focusing narrowly on natural selection, unintentionally reinforces intuitive teleological thinking and a "survival of the fittest" mentality. Exhibits that incorporate all the forces (or mechanisms) of evolution will instead challenge visitors' preconceptions and enable them to develop a deeper understanding of evolution.
View Article and Find Full Text PDFReading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia.
View Article and Find Full Text PDFInt J Environ Res Public Health
November 2021
Despite prior successful implementation of Taking Texas Tobacco Free (TTTF), an evidence-based tobacco-free workplace program, in local mental health authorities (LMHAs), post-implementation employee attrition necessitated continuing education on tobacco-free policies and tobacco treatment practices. Here, we report on the outcomes of a train-the-trainer program which trained "champions" to deliver tobacco cessation education at their LMHAs. Three LMHAs participated in program implementation via 10 champions, iteratively trained and coached by TTTF.
View Article and Find Full Text PDFIntroduction And Aims: Dissemination and local adaptation of best practice models of care are often poorly achieved in knowledge translation processes. Understanding and documenting the iterative cycles of improvement can elucidate barriers, enablers and benefits of the process for future adoption and service integration improvements. This project examined the process of local adaptation for a third stage translation of a gestational diabetes dietetic model of care through collaboration with two Queensland (Australia) hospitals.
View Article and Find Full Text PDFAt least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.
View Article and Find Full Text PDFPurpose Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping.
View Article and Find Full Text PDFTwo new distal manual phalanges from the Middle Stone Age deposits of Klasies River Main Site are described. One (SAM-AP 6387) likely derives from ray II or ray III, whereas the other (SAM-AP 6388) is from the thumb. Both derive from a late adolescent or fully adult individual.
View Article and Find Full Text PDFBackground: Rapid automatised naming (RAN) and rapid alternating stimulus (RAS) are reliable predictors of reading disability. The underlying biology of reading disability is poorly understood. However, the high correlation among RAN, RAS and reading could be attributable to shared genetic factors that contribute to common biological mechanisms.
View Article and Find Full Text PDFDevelopmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468).
View Article and Find Full Text PDFPurpose: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.
Methods: Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family.
Results: Affected individuals presented with early-onset progressive mild hearing impairment with a fairly flat, gently downsloping or U-shaped audiogram configuration.
Trimethylamine N-oxide (TMAO) and urea are two important osmolytes with their main significance to the biophysical field being in how they uniquely interact with proteins. Urea is a strong protein destabilizing agent, whereas TMAO is known to counteract urea's deleterious effects. The exact mechanisms by which TMAO stabilizes and urea destabilizes folded proteins continue to be debated in the literature.
View Article and Find Full Text PDFAm J Phys Anthropol
January 2018
C. Loring Brace's writings on the concept of race have been among the most influential within anthropology. A review of the development of Brace's perspective on race shows that his philosophical approaches to fossil and modern human variation are consistent and integrated.
View Article and Find Full Text PDFEleven loci with prior evidence for association with reading and language phenotypes were sequenced in 96 unrelated subjects with significant impairment in reading performance drawn from the Colorado Learning Disability Research Center collection. Out of 148 total individual missense variants identified, the chromosome 7 genes CCDC136 and FLNC contained 19. In addition, a region corresponding to the well-known DYX2 locus for RD contained 74 missense variants.
View Article and Find Full Text PDFBackground: Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).
Methods: In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance.
Despite pronounced changes in genetic knowledge and technology, the post-World War II philosophical stance on "eugenics" has not changed substantially. By the mid-1900s, as classical eugenics became less genetically naive and the medical profession became increasingly oriented toward disease prevention, a reformed eugenics had greater appeal. Eugenics' surviving influence on medical genetics is best seen in the field of genetic counseling, a discipline that serves prospective parents and families at risk of genetic abnormalities, and whose origins reveal close ties to population genetics.
View Article and Find Full Text PDFBackground: Reading disability (RD) and language impairment (LI) are heritable learning disabilities that obstruct acquisition and use of written and spoken language, respectively. We previously reported that two risk haplotypes, each in strong linkage disequilibrium (LD) with an allele of READ1, a polymorphic compound short tandem repeat within intron 2 of risk gene DCDC2, are associated with RD and LI. Additionally, we showed a non-additive genetic interaction between READ1 and KIAHap, a previously reported risk haplotype in risk gene KIAA0319, and that READ1 binds the transcriptional regulator ETV6.
View Article and Find Full Text PDFReading disability (RD) and language impairment (LI) are common neurodevelopmental disorders with moderately strong genetic components and lifelong implications. RD and LI are marked by unexpected difficulty acquiring and processing written and verbal language, respectively, despite adequate opportunity and instruction. RD and LI-and their associated deficits-are complex, multifactorial, and often comorbid.
View Article and Find Full Text PDFJ Vet Emerg Crit Care (San Antonio)
October 2012
Objective: To review and summarize the human and veterinary literature on intra-abdominal pressure measurement techniques.
Data Sources: Human and veterinary clinical studies, research articles, reviews, and textbooks with no date restrictions with a focus on techniques for intra-abdominal pressure (IAP) measurement and their limitations.
Human Data Synthesis: Human literature has established the intravesicular method as the gold standard for indirect measurement of IAP.
The conventional strain energies for azetidine and phosphetane are determined within the isodesmic, homodesmotic, and hyperhomodesmotic models. Optimum equilibrium geometries, harmonic vibrational frequencies, and corresponding electronic energies and zero-point vibrational energies are computed for all pertinent molecular systems using self-consistent field theory, second-order perturbation theory, and density functional theory and using the correlation consistent basis sets cc-pVDZ, cc-pVTZ, and cc-pVQZ. Single point fourth-order perturbation theory, CCSD, and CCSD(T) calculations using the cc-pVTZ and the cc-pVQZ basis sets are computed using the MP2/cc-pVTZ and MP2/cc-pVQZ optimized geometries, respectively, to ascertain the contribution of higher order correlation effects and to determine if the quadruple-zeta valence basis set is needed when higher order correlation is included.
View Article and Find Full Text PDFInspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.
View Article and Find Full Text PDFLanguage and learning disorders such as reading disability and language impairment are recognized to be subject to substantial genetic influences, but few causal mutations have been identified in the coding regions of candidate genes. Association analyses of single nucleotide polymorphisms have suggested the involvement of regulatory regions of these genes, and a few mutations affecting gene expression levels have been identified, indicating that the quantity rather than the quality of the gene product may be most relevant for these disorders. In addition, several of the candidate genes appear to be involved in neuronal migration, confirming the importance of early developmental processes.
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