Influence of conception and delivery mode on stress response marker Oct4B1 and imprinted gene expression related to embryo development: A cohort study

Background: Recent scientific data support that the mode of conception and delivery may influence epigenetic regulation and therefore embryo development. Octamer-binding transcription factor 4-B1 (OCT4B1), a novel variant of OCT4 with yet unknown biological function, is suggested to have a potential role in mediating cellular stress response. Furthermore, Insulinlike Growth Factor 2 (IGF2), Mesoderm-specific Transcript (MEST) and paternally expressed gene 10 (PEG10) are genes known as imprinted and are regulated via means of epigenetic regulation. The influence of delivery mode and conception on epigenetic regulation is an active research field. Objective: Our aim was to correlate the expression level of Oct4B1 and the expression and methylation level of IGF2, MEST, and PEG10 imprinted genes with the mode of delivery and conception in the umbilical cord blood of newborns. Materials and Methods: Samples of umbilical cord blood from infants born after vaginal delivery, caesarean section (CS) with the infant in cephalic position and CS due to breech position were examined. Furthermore, the investigation included infants conceived through means of assisted reproductive technology. Results: No statistically significant differences were found in mRNA expression levels between different modes of conception and delivery (p = 0.96). Oct4B1, IGF2, MEST, and PEG10 expression levels do not seem to be significantly affected by different modes of conception and delivery. Conclusion: These results indicate that the expression and methylation patterns of Oct4B1, IGF2, MEST and PEG10 in umbilical cord blood are not affected by the conception and delivery mode. Key words: Conception, Fertilization in vitro, Genomic imprinting, Fetal blood

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

<p>Abstract</p> <p>Background</p> <p>Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of <it>de novo </it>cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six <it>de novo </it>and six familial, with apparently balanced translocations and mental retardation and/or congenital malformations by applying 1 Mb resolution array-CGH. In all <it>de novo </it>cases, only the patient was a carrier of the translocation and had abnormal phenotype. In five out of the six familial cases, the phenotype of the patient was abnormal, although the karyotype appeared identical to other phenotypically normal carriers of the family. In the sixth familial case, all carriers of the translocations had an abnormal phenotype.</p> <p>Results</p> <p>Chromosomal and FISH analyses suggested that the rearrangements were "truly balanced" in all patients. However, array-CGH, revealed cryptic imbalances in three cases (3/12, 25%), two <it>de novo </it>(2/12, 33.3%) and one familial (1/12, 16.6%). The nature and type of abnormalities differed among the cases. In the first case, what was identified as a <it>de novo </it>t(9;15)(q31;q26.1), a complex rearrangement was revealed involving a ~6.1 Mb duplication on the long arm of chromosome 9, an ~10 Mb deletion and an inversion both on the long arm of chromosome 15. These imbalances were located near the translocation breakpoints. In the second case of a <it>de novo </it>t(4;9)(q25;q21.2), an ~6.6 Mb deletion was identified on the short arm of chromosome 7 which is unrelated to the translocation. In the third case, of a familial, t(4;7)(q13.3;p15.3), two deletions of ~4.3 Mb and ~2.3 Mb were found, each at one of the two translocation breakpoints. In the remaining cases the translocations appeared balanced at 1 Mb resolution.</p> <p>Conclusion</p> <p>This study investigated both <it>de novo </it>and familial apparently balanced translocations unlike other relatively large studies which are mainly focused on <it>de novo </it>cases. This study provides additional evidence that cryptic genomic imbalances are common in patients with abnormal phenotype and "apparently balanced" translocations not only in <it>de novo </it>but can also occur in familial cases. The use of microarrays with higher resolution such as oligo-arrays may reveal that the frequency of cryptic genomic imbalances among these patients is higher.</p

Stressful Newborn Memories: Pre-Conceptual, In Utero, and Postnatal Events

Early-life stressful experiences are critical for plasticity and development, shaping adult neuroendocrine response and future health. Stress response is mediated by the autonomous nervous system and the hypothalamic–pituitary–adrenal (HPA) axis while various environmental stimuli are encoded via epigenetic marks. The stress response system maintains homeostasis by regulating adaptation to the environmental changes. Pre-conceptual and in utero stressors form the fetal epigenetic profile together with the individual genetic profile, providing the background for individual stress response, vulnerability, or resilience. Postnatal and adult stressful experiences may act as the definitive switch. This review addresses the issue of how preconceptual in utero and postnatal events, together with individual differences, shape future stress responses. Putative markers of early-life adverse effects such as prematurity and low birth weight are emphasized, and the epigenetic, mitochondrial, and genomic architecture regulation of such events are discussed

LEARN: A multi-centre, cross-sectional evaluation of Urology teaching in UK medical schools

OBJECTIVE: To evaluate the status of UK undergraduate urology teaching against the British Association of Urological Surgeons (BAUS) Undergraduate Syllabus for Urology. Secondary objectives included evaluating the type and quantity of teaching provided, the reported performance rate of General Medical Council (GMC)-mandated urological procedures, and the proportion of undergraduates considering urology as a career. MATERIALS AND METHODS: LEARN was a national multicentre cross-sectional study. Year 2 to Year 5 medical students and FY1 doctors were invited to complete a survey between 3rd October and 20th December 2020, retrospectively assessing the urology teaching received to date. Results are reported according to the Checklist for Reporting Results of Internet E-Surveys (CHERRIES). RESULTS: 7,063/8,346 (84.6%) responses from all 39 UK medical schools were included; 1,127/7,063 (16.0%) were from Foundation Year (FY) 1 doctors, who reported that the most frequently taught topics in undergraduate training were on urinary tract infection (96.5%), acute kidney injury (95.9%) and haematuria (94.4%). The most infrequently taught topics were male urinary incontinence (59.4%), male infertility (52.4%) and erectile dysfunction (43.8%). Male and female catheterisation on patients as undergraduates was performed by 92.1% and 73.0% of FY1 doctors respectively, and 16.9% had considered a career in urology. Theory based teaching was mainly prevalent in the early years of medical school, with clinical skills teaching, and clinical placements in the later years of medical school. 20.1% of FY1 doctors reported no undergraduate clinical attachment in urology. CONCLUSION: LEARN is the largest ever evaluation of undergraduate urology teaching. In the UK, teaching seemed satisfactory as evaluated by the BAUS undergraduate syllabus. However, many students report having no clinical attachments in Urology and some newly qualified doctors report never having inserted a catheter, which is a GMC mandated requirement. We recommend a greater emphasis on undergraduate clinical exposure to urology and stricter adherence to GMC mandated procedures

Insights into Teachers’ Intercultural and Global Competence within Multicultural Educational Settings

As multicultural classrooms appear to be the norm nowadays, giving rise to new, more particular and targeted needs which must be accommodated, teachers now need to reflect on and adjust the strategies and practices they apply in order to meet the specific learning needs of their intercultural classrooms. For this reason, teachers’ education should be re-examined, evaluated, and enriched. In this light, this original study uses a case study to explores the language views and attitudes of graduates of a Hellenic Open University Master’s international programme entitled “Language Education for Refugees and Migrants” (L.R.M.). The aim is to explore teachers’ level of intercultural competence and readiness as well as their global competences as future teachers in multilingual and multicultural settings after completing the programme. To do this, the study attempts to evaluate the programme through the lens of the personal experiences of the graduates in terms of successes, weaknesses, and strengths. To conduct the research, both quantitative and qualitative methods were applied in the form of a close-ended questionnaire and a semi-structured interview conducted in two different formats. The results indicate that the majority of the participants were confident enough to manage the challenges arising in multicultural settings after completing the program, as they felt they had developed appropriate Skills, Knowledge, and Attitudes; however, a few among them still felt uncertain in doing this. In addition, a number of different approaches and methods were found to be appropriate as used for teachers’ training, while the importance of teachers’ intercultural training was highlighted

“It’s good to have a language under your belt” : the value of foreign languages in the Greek job market

Language skills have become an essential qualification for job seekers, especially in countries whose national language is not considered as commonly used for international business. Against this backdrop, this paper reports on a study concerned with the landscape of language demand in the Greek job market by means of systematic indexing of job advertisements in daily/Sunday press, specialized job agencies and company websites. The results indicate that although a low percentage of job postings explicitly refer to a language requirement, it is common in senior, high skilled positions. Languages are also more in demand in specific industries including: informatics, shipping, science, law, agriculture, engineering and economics. In this paper we report on the findings of this work and discuss the implications for language policy on a national level including the introduction of a wider variety of language at Higher Education (HE) level

The effect of strategy instruction on strategy use in video-mediated integrated writing

Explicit Strategy Instruction (SI) can greatly benefit English for Academic Purposes (EAP) learners who tackle highly challenging integrated writing tasks. This paper explores the effect of SI on the strategies used upon completion of a video-mediated integrated writing task by Greek EAP students. Findings indicated statistically significant differences in the pre- post-comparison for most of the questionnaire items. The differences were more pronounced in the self-regulation and output production strategies indicating effectiveness of the SI on the students’ cognitive and metacognitive strategy use. This paper presents the specific SI and discusses the implications for explicit SI in EAP contexts

Labeling of Derogatory Words in Modern Greek Dictionaries

Abstract and full text of the articles are freely available on www.degruyter.com (De Gruyter Open)