Developmental anomalies of the eye: the genetic link

As in other areas of the body, developmental anomalies of the eye arise as a result of the disturbance of events during embryology and in a proportion of cases these anomalies are genetically inherited. Developmental anomalies that occur early in embryonic life may be so severe that the embryo may not survive but others result in the birth of healthy babies but with developmental eye defects of varying severity. The most dramatic developmental defects of the eye include anophthalmos (complete absence of an eye), microphthalmos (a general failure of the eye to develop resulting in a small, undeveloped eye), coloboma (caused by failure of the optic vesicle to invaginate), and aniridia (complete or partial loss of the iris). The present article does not provide an exhaustive review of the topic but considers the major types of developmental anomaly to affect the eye and will discuss how recent progress in genetics has increased our understanding of these disorders. The major genes linked to the developmental anomalies are discussed as well as how defects in these genes might lead to specific problems.

Individual differences in occupational perceptions: a developmental study

This thesis presents an investigation of the structure of people's occupational perceptions. The questionnaires used In this study collected both descriptive information about people's perceptions of occupations and also pair comparison similarities data. The data were collected both in the United States of America and England from samples of subjects who differed in terms of age and sex. This provided, therefore, both cross-cultural and developmental dimensions to the study. A cognitive orientation to the study of vocational behaviour is developed and multidimensional scaling procedures are used to analyze the data. A prime concern of the thesis is to examine the appropriateness of this approach and these techniques to this subject area. The results of this study show that a considerable range of individuaI differences exist in occupational perceptions.0lder subjects have a more complex structure to their perceptions and showed greater consensus as to how they perceived occupations to relate to each other. Younger subjects exhibited a greater range of individual differences in occupational perceptions but had, on average, a simpler subjective occupational structure. The multidimensional scaling procedures used in this study were able to reveal how occupational perceptions were structured, to relate these occupational perceptions to occupational preferences and other evaluative data, and to show that the groupings and structure of occupational perceptions ore similar to the dimensions used in occupational classification schemes. ImpIications of these resultts to vocationaI guidance theory and practice are discussed. The resuIts reported here strongly support both the use of the cognitive approach adopted here and demonstrate the potential of multidimensional scaling techniques for further:research in the field of vocational psychology.

Sex differences in bipolar disorder:a review of neuroimaging findings and new evidence

Objectives: The sex of an individual is known to modulate the clinical presentation of bipolar disorder (BD), but little is known as to whether there are significant sex-by-diagnosis interactions on the brain structural and functional correlates of BD. Methods: We conducted a literature review of magnetic resonance imaging (MRI) studies in BD, published between January 1990 and December 2010, reporting on the effects of sex and diagnosis. In the absence of any functional MRI (fMRI) studies, this review was supplemented by original data analyses focusing on sex-by-diagnosis interactions on patterns of brain activation obtained during tasks of working memory, incentive decision-making, and facial affect processing. Results: We found no support for a sex-by-diagnosis interaction in global gray or white matter volume. Evidence regarding regional volumetric measures is limited, but points to complex interactions between sex and diagnosis with developmental and temperamental factors within limbic and prefrontal regions. Sex-by-diagnosis interactions were noted in the pattern of activation within the basal ganglia during incentive decision-making and within ventral prefrontal regions during facial affect processing. Conclusions: Potential sex-by-diagnosis interactions influencing the brain structural and functional correlates of disease expression in BD have received limited attention. Our data suggest that the sex of an individual modulates structure and function within subcortical and cortical regions implicated in disease expression. © 2012 The Authors. Journal compilation © 2012 John Wiley & Sons A/S.

Plasticity, plasticity, plasticity . . . and the rigid problem of sex

Why is popular understanding of female-male differences still based on rigid models of development, even though contemporary developmental sciences emphasize plasticity? Is it because the science of sex differences still works from the same rigid models?

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Recommendations for sex/gender neuroimaging research:key principles and implications for research design, analysis and interpretation

Neuroimaging (NI) technologies are having increasing impact in the study of complex cognitive and social processes. In this emerging field of social cognitive neuroscience, a central goal should be to increase the understanding of the interaction between the neurobiology of the individual and the environment in which humans develop and function. The study of sex/gender is often a focus for NI research, and may be motivated by a desire to better understand general developmental principles, mental health problems that show female-male disparities, and gendered differences in society. In order to ensure the maximum possible contribution of NI research to these goals, we draw attention to four key principles—overlap, mosaicism, contingency and entanglement—that have emerged from sex/gender research and that should inform NI research design, analysis and interpretation. We discuss the implications of these principles in the form of constructive guidelines and suggestions for researchers, editors, reviewers and science communicators.

The isolation and characterization of tescalcin, a novel gene differentially expressed in the mouse testis during the early stages of gonadal differentiation

Gonadal development is an ideal model to study organogenesis because a variety of developmental processes can be studied during the differentiation of the bipotential primordium into testis or ovary. To better understand this process, Representational Difference Analysis of cDNA was used to identify genes that are differentially expressed in mouse gonads at 13.5 days post-coitus. The analysis led to the identification of three testis specific genes and a sequence that was only expressed in the ovary. The male genes identified: renin, Col9a3, and a novel gene termed tescalcin had patterns of expression that suggested a role in testis determination. ^ Studies of the tescalcin gene revealed that it is organized into eight exons and seven introns. The gene was located at 64 cM in mouse chromosome 5, where it spans approximately 35 Kb. Three mRNA variants resulting from alternative splicing of intron 5 were identified in mouse tissues. Gel mobility shift assays demonstrated that Sp1 and Sp3 from Y-1, msc-1, and MIN-6 cells nuclear extracts bind the GC-boxes within the tescalcin proximal promoter. Bisulfite sequencing analysis of tescalcin CpG island revealed that it is differentially methylated in male and female mouse embryonic gonads, and that hypermethylation of this region represses expression of tescalcin in the β-TC3 cell line. ^ The major tescalcin mRNA encodes a protein with 214 amino acids that contains a consensus EF-hand Ca2+-binding domain and an N-myristoylation motif. The amino acid sequence of tescalcin is highly conserved among various species, and it showed the highest homology with calcineurin B homologous proteins 1 and 2, and calcineurin B. Western blot analysis using antibodies generated against the tescalcin protein confirmed its presence in specific mouse tissues and cell lines. Immunohistochemical analysis of mouse embryos confirmed the pattern of expression of tescalcin mRNA in fetal testis. Using pull-down assays, glyceraidehydes-3-phosphate dehydrogenase was identified as an interacting and potential functional partner of tescalcin. ^ The identification and characterization of tescalcin as a novel embryonic testicular marker will contribute to the elucidation of the genetic pathways involved in testis development and likely to the understanding of pathological conditions such as sex reversal and infertility. ^

Effectiveness of skills- versus metacognitive strategy-based approaches on reading comprehension of college developmental students

This study explored the relative value of behavioral and cognitive psychology as the basis of instruction for underprepared college students enrolled in developmental reading courses. Specifically this study examined the effects of a metacognitive strategy-based instructional approach (MSIA) modeling a metacognitive self-questioning technique (MSQT) versus a traditional skills-based instructional approach (SIA) on the Nelson-Denny reading comprehension scores of college developmental readers and whether there were significant differences in achievement based on instructional method used and on the sex of students. The sample consisted of 100 college developmental reading students who were enrolled in six intact sections of a reading course (REA0002). Participants completed a pretest of the comprehension subtest of the Nelson-Denny Reading Test (Form G). Three of these classes (n = 49) were taught using metacognitive-strategy instruction and three classes (n = 51) were instructed using skills-based instruction. They then received a semester of instruction intended to improve their reading comprehension. At the end of the semester, participants completed a post-test of the Nelson-Denny Reading Comprehension Test (Form H). A two (Between) x one (Within) Repeated Measures Analysis of Variance (ANOVA) was utilized to test each of the hypotheses of this study. Results showed that there were no significant differences in reading comprehension between the groups receiving the different instructional treatments and no differences in reading comprehension between the men and women participants. Based on the findings, implications for research and recommendations for future research were discussed.

An evaluation of an intervention strategy for retention and determination of predictors of success for high -risk students in an associate degree nursing program

The purpose of this study was twofold: (1) to evaluate the effect of a specific instructional Intervention, a Nursing Theory Laboratory, on increasing the retention of high risk students in the associate degree nursing program at Miami-Dade Community College in Miami, Florida; and (2) to identify predictors of success of high risk nursing students in this associate degree nursing program.^ Data were collected from the 195 nursing students enrolled in Nursing Fundamentals during the 1985-1987 academic years, and identified as high risk students. Control and experimental groups were selected based on enrollment in the Nursing Theory Laboratory.^ Results were determined by analyzing several cross-tabulations of selected variables and yielding chi square values, t-tests, and two discriminant analyses. There was no significant relationship between age or ethnic background and enrollment in the Nursing Theory Laboratory. There was no significant relationship between enrollment in the Nursing Theory Laboratory and success in Nursing 1 (Nursing Fundamentals). There was a significant relationship between enrollment in the Nursing Theory Laboratory and success in Nursing 3 (Medical-Surgical Nursing). Writing assessment test scores in two entrance tests and high risk categories, based on the number of enrollments in required science courses, were identified as predictors of success in this program.^ The conclusion was that the Nursing Theory Laboratory does not significantly improve retention of high risk associate degree nursing students if they are enrolled in this intervention at the same time they are enrolled in Nursing Fundamentals. Since those students who were enrolled in the Nursing Theory Laboratory had a significantly higher success rate in Nursing 3, than those students who were not enrolled in the Nursing Theory Laboratory, a recommendation of this study was to offer the Nursing Theory Laboratory to high risk students prior to the beginning of nursing courses. Another recommendation was that students deficient in reading and writing skills should be required to enroll in developmental courses prior to enrollment in the nursing course. ^

Differential effects of single -sex versus coed education on the mathematical reasoning ability, verbal reasoning ability, and self-concept of high school girls

This study explored the differential effects of single-sex versus coed education on the cognitive and affective development of young women in senior year of high school. The basic research question was: What are the differential effects of single-sex versus coed education on the development of mathematical reasoning ability, verbal reasoning ability, or self-concept of high school girls?^ This study was composed of two parts. In the first part, the SAT verbal and mathematical ability scores were recorded for those subjects in the two schools from which the sample populations were drawn. The second part of the study required the application of the Piers-Harris Children's Self-Concept Scale to subjects in each of the two sample populations. The sample schools were deliberately selected to minimize between group differences in the populations. One was an all girls school, the other coeducational.^ The research design employed in this study was the causal-comparative method, used to explore causal relationships between variables that already exist. Based on a comprehensive analysis of the data produced by this research, no significant difference was found to exist between the mean scores of the senior girls in the single-sex school and the coed school on the SAT 1 verbal reasoning section. Nor was any significant difference found to exist between the mean scores of the senior girls in the single-sex school and the coed school on the SAT 1 mathematical reasoning section. Finally, no significant difference between the mean total scores of the senior girls in the single-sex school and the coed school on the Piers-Harris Children's Self-Concept Scale was found to exist.^ Contrary to what many other studies have found in the past about single-sex schools and their advantages for girls, this study found no support for such advantages in the cognitive areas of verbal and mathematical reasoning as measured by the SAT or in the affective area of self-concept as measured by the Piers-Harris Children's Self-Concept Scale. ^

Romantic Relationships and Adjustment in Early Adulthood: The Role of Cross-sex Experience in the Context of Social Norms and Support

Attachment and interpersonal theory suggest a sequential pattern of relationships beginning in the earliest stage of development and progressing to social and eventually romantic relationships. Theoretically, cross-sex experiences have an important role in the progression of interpersonal relationships. Despite the prevalence of these theories about the nature of romantic relationship development, the linkage of cross-sex experience (CSE) to romantic relationships has not been established. Indeed, it is an intuitive assumption, especially within Western society and these theories do not consider socio-cultural factors that may influence CSE and relationship satisfaction. This study addresses the varying contextual factors that may contribute to relationship satisfaction and adjustment, aside from CSE, and is divided into two parts. Study 1, addresses CSE, relationship satisfaction, and adjustment in a unique population, ultra-Orthodox Jews. Among this population, social or romantic CSE is limited and sexes are effectively segregated. Study 2, expanded the study to a larger sample of U.S. college students, to assess the linkage of CSE to romantic relationship satisfaction in a more typical Western population. It included social norm and support variables to address the contextual nature of relationship development and satisfaction. Results demonstrated clear differences in the relation between CSE and relationship satisfaction in the two samples. In the first sample CSE was unrelated to relationship satisfaction; nevertheless, relationship satisfaction was associated with adjustment as it is for more typical populations with greater CSE. These results suggested the importance of specifying how social norms and social support relate to CSE, relationship satisfaction and adjustment. The results from the second sample were consistent with the theoretical framework upon which the social/romantic literature is based. CSE was directly connected to relationship satisfaction. As anticipated, CSE, relationship satisfaction, and adjustment also varied as a function of social norms and support. These findings further validate the influence of socio-cultural factors on relationship satisfaction and adjustment. This study contributes to the romantic relationship literature and broadens our understanding of the complex nature of interpersonal and romantic relationships.

A high-resolution sedimentology and age determination of core PS2185 from the central Arctic Ocean

A high-resolution multiparameter stratigraphy allows the identification of late Quaternary glacial and interglacial cycles in a central Arctic Ocean sediment core. Distinct sandy layers in the upper part of the otherwise fine-grained sediment core from the Lomonosov Ridge (lat 87.5°N) correlate to four major glacials since ca. 0.7 Ma. The composition of these ice-rafted terrigenous sediments points to a glaciated northern Siberia as the main source. In contrast, lithic carbonates derived from North America are also present in older sediments and indicate a northern North American glaciation since at least 2.8 Ma. We conclude that large-scale northern Siberian glaciation began much later than other Northern Hemisphere ice sheets.

Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics

Sex differences occur in most non-communicable diseases, including metabolic diseases, hypertension, cardiovascular disease, psychiatric and neurological disorders and cancer. In many cases, the susceptibility to these diseases begins early in development. The observed differences between the sexes may result from genetic and hormonal differences and from differences in responses to and interactions with environmental factors, including infection, diet, drugs and stress. The placenta plays a key role in fetal growth and development and, as such, affects the fetal programming underlying subsequent adult health and accounts, in part for the developmental origin of health and disease (DOHaD). There is accumulating evidence to demonstrate the sex-specific relationships between diverse environmental influences on placental functions and the risk of disease later in life. As one of the few tissues easily collectable in humans, this organ may therefore be seen as an ideal system for studying how male and female placenta sense nutritional and other stresses, such as endocrine disruptors. Sex-specific regulatory pathways controlling sexually dimorphic characteristics in the various organs and the consequences of lifelong differences in sex hormone expression largely account for such responses. However, sex-specific changes in epigenetic marks are generated early after fertilization, thus before adrenal and gonad differentiation in the absence of sex hormones and in response to environmental conditions. Given the abundance of X-linked genes involved in placentogenesis, and the early unequal gene expression by the sex chromosomes between males and females, the role of X- and Y-chromosome-linked genes, and especially those involved in the peculiar placenta-specific epigenetics processes, giving rise to the unusual placenta epigenetic landscapes deserve particular attention. However, even with recent developments in this field, we still know little about the mechanisms underlying the early sex-specific epigenetic marks resulting in sex-biased gene expression of pathways and networks. As a critical messenger between the maternal environment and the fetus, the placenta may play a key role not only in buffering environmental effects transmitted by the mother but also in expressing and modulating effects due to preconceptional exposure of both the mother and the father to stressful conditions.