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 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.

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).

Heritability of Antisocial Behavior

2016 ◽  
Author(s):  
Tina Kretschmer ◽  
Matt DeLisi
Keyword(s):  
Antisocial Behavior ◽  
Genetic Information ◽  
Justice System ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Developmental Models ◽  
Quantitative Genetic ◽  
Gene Environment ◽  
Study Designs

This chapter reviews important strands of research on the heritability of antisocial behavior and crime, including both quantitative genetic studies using twin or adoption designs as well as molecular genetic approaches. Study designs are introduced and findings discussed. Contemporary avenues including gene-environment interplay and developmental models are presented. Overall it is concluded that a significant amount of variance in antisocial behavior and crime is attributable to genetic factors but conclusive knowledge on involvement of specific genes still absent. We conclude with a discussion of usage of genetic information in the criminal justice system and note future tasks for the field of bio-criminology.

scholarly journals Thyroid Cancer: Current Molecular Perspectives

2010 ◽  
Vol 2010 ◽  
pp. 1-17 ◽  
Author(s):  
Francesca Giusti ◽  
Alberto Falchetti ◽  
Francesco Franceschelli ◽  
Francesca Marini ◽  
Annalisa Tanini ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Carcinoma ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Differentiated Thyroid Carcinoma ◽  
Genetic Alterations ◽  
Malignant Neoplasms ◽  
Genetic Studies ◽  
Thyroid Microcarcinoma ◽  
Indeterminate Cytology

The thyroid cancer is a rare oncological entity, representing no more than 1% of all human malignant neoplasms. Recently, it has been demonstrated a sharp increase in incidence of differentiated thyroid carcinoma, equally occurring in both sexes. So far, multiple genetic alterations have been identified in differentiated thyroid carcinoma, leading to investigate the clinical utility of genetic studies. In particular, molecular genetic approaches searching for gene mutations in the material collected by fine needle ago-biopsy may have a particular utility in small nodules and in those specimens with an indeterminate cytology. The expansion of knowledge about genetic mutations occurring in different thyroid tumors has characterized recent years, allowing the identification of a correlation between specific mutations and phenotypic characteristics of thyroid cancers, essential for their prognosis. This review will briefly report on the histological features and the new entity represented by thyroid microcarcinoma and will focus on both environmental and genetic aspects associated with the occurrence of thyroid cancer.

scholarly journals Genes, environment and schizophrenia

2001 ◽  
Vol 178 (S40) ◽  
pp. s18-s24 ◽  
Author(s):  
Ming T. Tsuang ◽  
William S. Stone ◽  
Stephen V. Faraone
Keyword(s):  
Genetic Factors ◽  
Molecular Genetic ◽  
Treatment Strategies ◽  
Adoption Studies ◽  
Genetic Studies ◽  
Neurodevelopmental Model ◽  
Overwhelming Evidence ◽  
Representative Selection ◽  
Chromosomal Loci ◽  
Selection Of

BackgroundData from family, twin and adoption studies show overwhelming evidence of a substantial genetic component in schizophrenia and although molecular genetic studies have been more difficult to replicate, recent improvements in technology have resulted in the implication of genes at several chromosomal loci. Nevertheless, it remains clear that environmental factors both add to and interact with genetic factors to produce the disorder.AimsTo incorporate genetic and environmental risk factors into a neurodevelopmental model in order to conceptualise the liability to schizophrenia.MethodA representative selection of the literature related to this issue is reviewed, together with a reformulation of Meehl's term ‘schizotaxia’ to describe the liability to the disorder.ResultsThe literature supports a multi-factorial view of the liability to schizophrenia, which includes both genetic and environmental components.ConclusionsSchizotaxia provides a useful way to conceptualise both the liability for schizophrenia, and also the development of treatment strategies aimed at the eventual prevention of the illness.

scholarly journals Genetic factors accounting for different type 1 diabetes morbidity levels in Europe and Russian Federation

2011 ◽  
Vol 57 (1) ◽  
pp. 19-25 ◽  
Author(s):  
T L Kuraeva ◽  
T Iu Shiriaeva ◽  
E V Titovich ◽  
S A Prokof'ev
Keyword(s):  
Type 1 Diabetes ◽  
Genetic Markers ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Developed Countries ◽  
Population Based ◽  
Ethnic Variability ◽  
Different Populations

Type 1 diabetes mellitus (DM1) is characterized by varying levels of morbidity in different populations and its overall increase in the majority of developed countries during the last 30 years. According to IDF, as many as 218,000 new cases of DM1 are registered annually all over the world of whom 75,800 (49%) are children at the age from 0 through 14 years. The yearly incremental increase of DM1 morbidity in this group is estimated at 3%. The marked ethnic variability of DM1 morbidity may be attributed to the different living conditions (environmental factors), population-related differences in the frequency of diabetes-predisposing and protective genetic markers, and the presence of specific markers in different populations. The population-based studies on the occurrence of molecular-genetic markers of DM1 in different ethnic groups confirmed the important role of genetic factors as predictors of diabetes and promoted the understanding of their contribution to the development of the disease in different ethnoses. The results of relevant original and published investigations are discussed.

Biosocial Theories in Criminology

2019 ◽  
Author(s):  
Jessica Wells ◽  
Anthony Walsh
Keyword(s):  
Human Behavior ◽  
Genetic Factors ◽  
Complex Structure ◽  
Molecular Genetic ◽  
Advanced Technology ◽  
Genetic Studies ◽  
Biosocial Criminology ◽  
Access To Data ◽  
And Function ◽  
And Behavior

While the roots of criminology largely lie in sociological explanations for crime and delinquency, a resurgence has begun wherein human behavior is explained as a product of both environmental and biological factors: biosocial criminology. Biosocial criminology encompasses many perspectives that seek to explain the relationships between human behavior and genes, evolution, neurobiology, and more. While biosocial criminology does not have a long history in the broader field of criminology, modern advances in technology have made access to data to explore biosocial criminological questions far more readily available. Advanced technology, coupled with studies suggesting that a large proportion of the variance in antisocial behavior is attributable to genetic factors has spurred many criminologists to explore how both nature and nurture influence behavior. A wide variety of perspectives is apparent within biosocial criminology. These perspectives can be seen as tools to uncover different elements of the equation seeking to understand human behavior. Behavior genetic studies seek to explain what proportion of the variation in a trait or behavior is due to genetic factors. Molecular genetic studies seek to uncover which genes are related to that trait or behavior and how strongly they are associated. Evolutionary psychology seeks to explain why a trait or behavior emerged and remained through the process of natural selection. Neurobiological studies explain how the complex structure and function is related to traits and behavior. While these perspectives vary widely in their approach, one fact remains: neither environmental nor biological explanation for human behavior is sufficient on its own; rather, the complex interplay between environments and biology is critical to advance knowledge about the causes and correlates of criminal and delinquent behavior.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

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