Search Results for genetic

... Abstract Genetic testing is an important consideration in all congenital heart conditions. Given that congenital heart diseases (CHDs) are disorders of abnormal heart development, it is probable that pathogenic variants in genes that affect early embryonic differentiation and cardiac...

...References References 1. Swiss Academy of Medical Sciences: Genetische Untersuchungen im medizinischen Alltag Basel, Swiss Academy of Medical Sciences (SAMW), 2004;9 2. Burke W: Genetic testing. N Eng J Med 2003;347:1867-1875 3. (eds) Marteau T, Richards M: The Troubled Helix...

...Introduction Recent advances in genetic and genomic technologies have resulted in a dramatic increase in the availability of genetic testing for many hematological conditions. Some of the reasons for offering genetic testing to the patient and/or family include establishing or confirming...

... a threshold model, which provides a quantitative genetic framework for it. In this model (Fig.  1 ), we can assume that MIH is caused by variation in an unobservable but normally distributed contributing factor or liability [ 6 ]. Fig. 1. The multifactorial threshold model. This model assumes...

... Abstract Genetic testing has become part of routine diagnostics in an increasing number of medical conditions. At the same time, genetic testing methods have entered a high-throughput era, allowing both diagnostics and medical research to address more comprehensive and complex questions...

... Abstract Male and female infertility affects close to 50 million couples worldwide according to a recent World Health Organization estimate. Many of the 25-30% of couples with idiopathic infertility likely have a genetic etiology for their condition. Next-generation sequencing has identified...

... Abstract Spermatogenesis describes a complex multistep differentiation process to produce millions of mature spermatozoa daily. Spermatogenesis is fueled by spermatogonial stem cells. It comprises a variety of unique genetic and epigenetic mechanisms to eventually generate haploid sperm, which...

... of respiratory chain diseases led to the investigation of mitochondrial DNA mutations in WS patients. However, mitochondrial mutations and deletions in the mitochondrial DNA have been excluded in more than 20 WS patients [ 17 ]. Genetic mapping and candidate gene approaches have identified the mutated...

... (type 1 diabetes). Type 1 diabetes has been rarely reported in different series of patients affected by the syndrome and especially among Finnish patients. In this chapter we discuss the relevant studies that highlight the peculiar genetic and immunological features that in addition to the effect...

... genetic disorders with dyshidrosis. Various neurohormonal mechanisms regulate sweating. When cutaneous C fibers in a localized area of the skin are activated by an increase in temperature, the preoptic hypothalamus area is activated and provides the stimulation for sweat production. The activated...

... Abstract This paper addresses practical and ethical considerations regarding genetic tests to predict performance and/or risk of exercise-related injury or illness. Various people might wish to conduct sport-related genetic tests for a variety of reasons. For example, an individual might seek...

... Abstract Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome...

... Abstract Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients for whom a genetic etiology can be determined. This chapter will address...