Dyslexia: A Very Short Introduction

Author(s):  
Margaret J. Snowling

Dyslexia: A Very Short Introduction provides an accessible overview of the innovative research surrounding dyslexia, beginning with its history, and drawing on the experiences of children and adults with dyslexia today. Considering the skills involved in learning to read, and looking at the role of genetic and environmental factors including the language of learning, this VSI discusses the causes of dyslexia and its associated risk factors. Discussing the various brain-scanning techniques that have been used to find out if the brains of people with dyslexia differ in structure or function from those of typical readers, it moves on to weigh up various strategies and interventions that can help people living with dyslexia today.

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  

Abstract Twin design is an important tool to analyze the role of genetic and environmental factors, and to better understand causal mechanisms in public health research. Twin studies have reliably shown that genetic factors are important not only for physiological traits but also for psychological and health behavioral traits as well as for health-related work incapacity in terms of sick leave and disability pension. As many countries face an aging workforce, it is becoming ever more important to understand the underlying causes of work incapacity across the entire working life. In the past decade, twin data in combination with national register data have been used to deepen our understanding of the role of genetic and environmental influences on the complex processes of sick leave and disability pension. The aim of this workshop is to present and discuss methods and results of studies based on the large Swedish, Finnish and Norwegian twin cohorts. Linear structural equations are intensively utilized in modern methods of twin studies. A variety of models are available to answer different research questions, such as the dynamics behind associations between traits and developmental processes in longitudinal designs - models also applicable in health at work and social security. Further, analyzing twin pairs discordant for an outcome or risk factor (co-twin control) provides a unique possibility to control for familial (genetic and shared environmental) factors, since cases and controls are matched optimally being twins. Findings based on twin cohorts suggest that familial factors are relevant to many risk factors as well as for work incapacity. By controlling for these unobserved confounding factors, the co-twin control design may provide more accurate estimates of risk factors for work incapacity and complement the epidemiological findings of unrelated subjects. Based on population-based twin cohort studies with long follow-up, indications also exist that familial confounding may have different roles in the associations between risk factors and work incapacity. For example, in regard to various disability pension diagnosis groups and depending on study designs (one vs. two time points, longer vs. shorter follow-up etc.). Results from prospective studies on various risk factors, including adolescents’ mental health problems, for future sick leave and disability pension will be presented. Another presentation focuses on the stability and change in genetic and environmental factors influencing work incapacity from age 18 until retirement and the likelihood of causality between educational attainment, lifestyle and work incapacity. Finally, results on adverse outcomes of sick leave due to mental disorders using an open cohort design adjusting for familial factors will be presented. During the time of rapid development in molecular genetics, the twin study design has maintained its importance and will continue to cast light on different aspects of work incapacity. Key messages Twin design offers a unique tool in public health research to examine and control for familial (genetic and shared environmental) factors. Genetic factors seem to play an important role in understanding the complex causes of work incapacity in terms of sick leave and disability pension.


Rheumato ◽  
2021 ◽  
Vol 1 (1) ◽  
pp. 17-21
Author(s):  
Elena Vanni ◽  
Jacopo Ciaffi ◽  
Luana Mancarella ◽  
Francesco Ursini

The rare occurrence of polymyalgia rheumatica (PMR) in married couples has been reported in the literature. Susceptibility to PMR is contributed by genetic and environmental factors and cases of PMR developing after influenza vaccine have also been described, in a debated phenomenon known as ‘ASIA’ syndrome. We report the case of two cohabitating married patients developing PMR few weeks after the first dose of ChAdOx1-S SARS-CoV-2 vaccine. Both patients presented with typical symptoms suggestive of PMR. Laboratory findings and ultrasound examination confirmed the diagnosis. Glucocorticoid therapy led to rapid improvment of symptoms. Anti-receptor-binding domain IgG titre was tested and, eight weeks after vaccination, both patients showed no antibody response. It has been suggested that vaccines might trigger autoimmune or inflammatory states in predisposed individuals and various hypotheses have been made regarding the pathogenesis of PMR. Although the causative effect of vaccines cannot be determined, the close temporal correlation observed in our case supports the potential role of environmental factors in triggering the onset of PMR. However, the literature indicates that post-COVID19 vaccination immune-mediated or inflammatory adverse events are extremely rare and vaccination should be encouraged since the benefit largely outweighs possible risks.


Author(s):  
Asli Aykac ◽  
Rasime Kalkan

AbstractPosttraumatic stress disorder (PTSD) is a stress-related mental disorder and develops after exposure to life-threatening traumatic experiences. The risk factors of PTSD included genetic factors; alterations in hypothalamic–pituitary–adrenal (HPA) axis; neurotrophic, serotonergic, dopaminergic, and catecholaminergic systems; and a variety of environmental factors, such as war, accident, natural disaster, pandemic, physical, or sexual abuse, that cause stress or trauma in individuals. To be able to understand the molecular background of PTSD, rodent animal models are widely used by researchers. When looking for a solution for PTSD, it is important to consider preexisting genetic risk factors and physiological, molecular, and biochemical processes caused by trauma that may cause susceptibility to this disorder. In studies, it is reported that epigenetic mechanisms play important roles in the biological response affected by environmental factors, as well as the task of programming cell identity. In this article, we provided an overview of the role of epigenetic modifications in understanding the biology of PTSD. We also summarized the data from animal studies and their importance during the investigation of PTSD. This study shed light on the epigenetic background of stress and PTSD.


Author(s):  
Elizabeth Hawkes ◽  
Mayank A Nanavaty

ABSTRACT Keratoconus is a progressive corneal ectactic condition that can lead to visual loss. Despite being the most common cause for keratoplasty in the developed world the aetiology is unknown. It is thought to be multifactorial, with genetic and environmental factors implicated. The association of eye rubbing and pathogenesis of keratoconus has been well documented. In this review, we collate the existing literature and summarize the current knowledge of the role of eye rubbing in the pathogenesis of keratoconus. How to cite this article Hawkes E, Nanavaty MA. Eye Rubbing and Keratoconus: A Literature Review. Int J Kerat Ect Cor Dis 2014;3(3):118-121.


2011 ◽  
Vol 152 (32) ◽  
pp. 1265-1271 ◽  
Author(s):  
György Jermendy ◽  
Levente Littvay ◽  
Rita Steinbach ◽  
Ádám Jermendy ◽  
Ádám Tárnoki ◽  
...  

Both genetic and environmental factors play role in the pathogenesis of the metabolic syndrome. The magnitude of genetic and environmental influences on the components of metabolic syndrome may vary in different populations. Aims: The present study was aimed to determine the effects of genetic and environmental factors on risk factors characteristic for the metabolic syndrome. Methods: A total of 101 (63 monozygotic and 38 dizygotic) adult twin pairs (n = 202; mean age: 43.3±15.8 years) were investigated. Medical history was recorded and physical examination was carried out for each subject. Fasting venous blood samples were used for measuring laboratory parameters. The presented estimates include the heritability structural equation (A-C-E) model results. In Model-1, all presented parameters are age- and gender- corrected. In Model-2, parameters were corrected for age, gender, body mass index and waist circumference. Results: Heritability in waist circumference (as well as in other anthropometric parameters such as weight and height) was high (Model-1: 71.0–88.1%). Similarly, genetic factors had the highest proportion of total phenotypic variance in systolic and diastolic blood pressure (Model-2: 57.1% and 57.7%, respectively). Based on the results of Model-2, unique environmental factors dominate alterations in serum triglycerides values (55.9%) while shared environmental factors proved to be substantial in alterations of HDL-cholesterol and fasting blood glucose values (58.1% and 57.1%, respectively). Comparing the results of Model-1 and Model-2, the difference in A-C-E model varied from 0.0% to 17.1%, indicating that only a minor proportion of genetic and environmental influences can be explained by the effects of anthropometric parameters. Conclusions: Among adult Hungarian healthy people, genetic factors have substantial influence on waist circumference and blood pressure values while environmental factors dominate alterations in serum triglycerides, HDL-cholesterol and fasting blood glucose values. The different heritability of individual risk factors challenges the original unifying concept of the metabolic syndrome. The results may be useful for establishing and implementing primary cardiovascular prevention both at individual and population levels. Orv. Hetil., 2011, 152, 1265–1271.


2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Valeria Coviltir ◽  
Miruna Burcel ◽  
Alina Popa Cherecheanu ◽  
Catalina Ionescu ◽  
Dana Dascalescu ◽  
...  

The focus of this update is to emphasize the recent advances in the pathogenesis and various molecular key approaches associated with myopia in order to reveal new potential therapeutic targets. We review the current evidence for its complex genetics and evaluate the known or candidate genes and loci. In addition, we discuss recent investigations regarding the role of environmental factors. This paper also covers current research aimed at elucidating the signaling pathways involved in the pathogenesis of myopia.


2009 ◽  
Vol 05 (01) ◽  
pp. 79
Author(s):  
Richard JQ McNally ◽  

In this article, the recent epidemiological literature on childhood cancer is reviewed. This includes findings from descriptive, case-control and cohort studies. The aetiology of most childhood cancers is unclear. Both genetic and environmental factors are likely to contribute. Increasing incidence, findings of clustering and seasonality in the incidence of certain cancers support a role for environmental agents in aetiology. The evidence concerning putative risk factors is considered and suggests that the aetiology is likely to be multifactorial and involve a number of different agents. These include infections, ionising radiation, certain chemical exposures, parental smoking, parental alcohol consumption and hair dyes. Conversely, breastfeeding and certain dietary supplements may convey protection. Recent findings regarding electromagnetic fields suggest that this factor is not likely to have a major role in aetiology.


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