Future Directions in Pediatric Epileptology

1994 ◽  
Vol 9 (2_suppl) ◽  
pp. 2S74-2S78
Author(s):  
Warren T. Blume
Keyword(s):  
Molecular Genetic ◽  
Developed Countries ◽  
Epidemiologic Studies ◽  
Pediatric Epilepsy ◽  
Cortical Lesions ◽  
Future Directions ◽  
Genetic Studies ◽  
Seizure Disorders ◽  
Epileptic Patients

Rapid developments in several areas of epileptology alter or clarify concepts and bring new hope to epileptic patients and their associates. Brief discussions of such advances comprise this report. Experimental and clinical data concerning the pathogenesis of cognitive impairment in some epileptic conditions are reviewed. Epidemiologic studies have altered some long-held concepts concerning etiology of seizures in early life. Molecular genetic studies have disclosed abnormalities in some of the epilepsies: a genetic predisposition to epilepsy may explain why some patients with cortical lesions develop seizures and others do not. It is suggested that many questions regarding surgery in pediatric epilepsy will be resolved only by more reliable techniques of case selection and follow-up. Practitioners in developed countries must realize how rudimentary is the care given to the unfortunate many with seizure disorders in less advantaged areas. (J Child Neurol 1994;9(Suppl)2S74-2S78).

The Genetics of Gambling and Behavioral Addictions

CNS Spectrums ◽  
2006 ◽  
Vol 11 (12) ◽  
pp. 931-939 ◽  
Author(s):  
Daniela S.S. Lobo ◽  
James L. Kennedy
Keyword(s):  
Pathological Gambling ◽  
Familial Aggregation ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Influences ◽  
Behavioral Addictions ◽  
Psychiatric Genetics ◽  
Negative Consequences ◽  
Future Directions ◽  
Genetic Studies

ABSTRACTBehavioral addictions are considered as the repetitive occurrence of impulsive behaviors without consideration of their potential negative consequences. These addictions represent an increasing cost to society and are an important new field of research in psychiatric genetics. There has been a growing body of evidence on the familial aggregation and genetic influences on the development of behavioral addictions and mainly on pathological gambling. The aim of this article is to critically review findings of family and molecular genetic studies on behavioral addictions, focusing on pathological gambling and commenting on other disorders where appropriate. This review provides a comprehensive approach to genetic studies on behavioral addiction and points out the necessity of expanding the genetic research in this field. Future directions for genetic studies in this field are also discussed.

scholarly journals α-Globin as a molecular target in the treatment of β-thalassemia

Blood ◽  
2015 ◽  
Vol 125 (24) ◽  
pp. 3694-3701 ◽  
Author(s):  
Sachith Mettananda ◽  
Richard J. Gibbons ◽  
Douglas R. Higgs
Keyword(s):  
Globin Gene ◽  
Molecular Genetic ◽  
Allogeneic Bone Marrow Transplantation ◽  
Fetal Hemoglobin ◽  
Developed Countries ◽  
Allogeneic Bone ◽  
Genetic Studies ◽  
Hemoglobin E ◽  
Premature Deaths ◽  
Globin Gene Expression

Abstract The thalassemias, together with sickle cell anemia and its variants, are the world’s most common form of inherited anemia, and in economically undeveloped countries, they still account for tens of thousands of premature deaths every year. In developed countries, treatment of thalassemia is also still far from ideal, requiring lifelong transfusion or allogeneic bone marrow transplantation. Clinical and molecular genetic studies over the course of the last 50 years have demonstrated how coinheritance of modifier genes, which alter the balance of α-like and β-like globin gene expression, may transform severe, transfusion-dependent thalassemia into relatively mild forms of anemia. Most attention has been paid to pathways that increase γ-globin expression, and hence the production of fetal hemoglobin. Here we review the evidence that reduction of α-globin expression may provide an equally plausible approach to ameliorating clinically severe forms of β-thalassemia, and in particular, the very common subgroup of patients with hemoglobin E β-thalassemia that makes up approximately half of all patients born each year with severe β-thalassemia.

Happiness and Wellbeing; the value and findings from genetic studies

2020 ◽  
Author(s):  
Margot Van de Weijer ◽  
Lianne de Vries ◽  
Meike Bartels
Keyword(s):  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Well Being ◽  
Future Directions ◽  
Genetic Studies ◽  
Global Trends ◽  
Genetic And Environmental Factors ◽  
Insight Into ◽  
Ageing Populations

In light of major global trends (e.g., rise of ageing populations, increasing longevity, decreasing birth rates), maintaining, facilitating, and building well-being (WB) is crucial, but also becomes increasingly complex and demanding. Over the past decade, twin studies have helped us get better insight into the extent to which genes and environments contribute to individual differences in well-being. Our knowledge about these genetic and environmental factors is continuingly growing with studies on well-being related phenotypes, extensions of twin studies, molecular genetic studies, and environmental studies. In this chapter, we provide an overview of past, present, and future directions of behavioural genetic research on well-being, happiness, and related phenotypes.

Citogenetic and molecular genetic studies in infertility in East Hungary

2013 ◽  
Vol 154 (2) ◽  
pp. 52-61 ◽  
Author(s):  
Attila Mokánszki ◽  
Anikó Ujfalusi ◽  
Erzsébet Balogh ◽  
Zsuzsanna Molnár ◽  
Tamás Sápy ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Klinefelter Syndrome ◽  
Molecular Genetic ◽  
Developed Countries ◽  
Genetic Alterations ◽  
Meiotic Segregation ◽  
Genetic Studies ◽  
Fmr1 Premutation ◽  
Motility Of Sperm ◽  
And Inversion

Introduction: In developed countries 10-15% of the couples are affected by infertility. In half of them genetic factors can be identified. Aims: We studied genetic alterations in infertility in Hungarian patients. Methods: Cyogenetic analyses were performed in 195 females and 305 males. In 17 females FMR1 mutations, in 150 males Y microdeletions, and aneuploidy were studied in the sperm of 28 males. In a carrier male sperm meiotic segregation was studied. Results: The most common aberrations in females were X chromosome aneuploidia and inversion (3.6%), while the same in males Klinefelter-syndrome (3.3%) and autosomal translocations (2%). In two females FMR1 premutation was found. While Y microdeletions were identified only in azoospermic and severe oligozoospermic men, partial microdeletions could also be detected in normozoospermic males. A higher aberration rate was found in cases with abnormality in both the number and motility of sperm. In a male patient with 46,XY,t(3;6)(q21;q23) karyotype, 53.2% of spem carried unbalanced chromosome assortment. Conclusions: Knowledge of abnormalities may help in genetic counseling and choosing the most effective reproduction technique. Orv. Hetil., 2013, 154, 52–61.

scholarly journals Behavioural Genomics of Mathematics

2014 ◽  
Author(s):  
Maria G. Tosto ◽  
Claire M.A. Haworth ◽  
Yulia Kovas
Keyword(s):  
Behavioral Genetics ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Mathematical Achievement ◽  
Mathematical Ability ◽  
Future Directions ◽  
Genetic Studies ◽  
Relative Contribution ◽  
Quantitative Genetic ◽  
Different Populations

This chapter evaluates the contribution of behavioral genetics to the understanding of mathematical development. Quantitative genetic methods are introduced first and are followed by a review of the existing literature on the relative contribution of genes and environments to variation in mathematical ability at different ages and in different populations. The etiology of any observed sex differences in mathematics is also discussed. The chapter reviews literature on multivariate twin research into the etiological links between mathematics and other areas of cognition and achievement; between mathematical ability and disability; and between mathematical achievement and mathematical motivation. In the molecular genetic section, the few molecular genetic studies that have specifically explored mathematical abilities are presented. The chapter concludes by outlining future directions of behavioral genetic research into mathematical learning and potential implications of this research.

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