Besides traditional risk factor, it has been proved that genetics and gene-environment interaction have a possible independent role in the development and progression of peripheral arterial disease (PAD). Knowledge about such genetic factors will increases our understanding about pathophysiologic mechanisms of PAD and could facilitate the therapeutic approaches. Human genetics has gone through an advanced improvement and it increases our chance to acquire better diagnostic and therapeutic approaches. In this chapter, we try to provide an update on the genetics of PAD, which is mostly about genome-wide association studies, linkage analyses, heritability, candidate gene studies, and epigenetics. Finally, we discuss challenges and future developments of researches in PAD genetics.
Hydrogen breath test is a non-invasive and inexpensive method for estimation of small bowel transit time, detection of excess bacteria in the small intestine and demonstration of maldigestion or malabsorption. Until now, little has been known about breath hydrogen excretion in lambs. The aim of our study was to assess the patterns of breath hydrogen excretion in lambs before and after feeding ewe's milk, and to evaluate pathological and/or physiological alterations in the lambs' gastrointestinal function. We assumed that intestinal disorders may influence the breath hydrogen concentrations, which could be detected early in the subclinical stage. A total of 52 healthy blackheaded Dorper lambs were included in the study. Breath hydrogen was measured after overnight fasting and at 30, 60 and 90 min after the start of feeding. There was a 2-week follow-up period after the measurements to assess the gastrointestinal health of lambs. During the follow-up period, clinical signs of diarrhoea developed in 6 lambs. Based on our results in healthy lambs, the median concentration of baseline breath hydrogen was 1.00 parts per million (minimum: 0.00, maximum: 2.00). We observed a significant elevation in breath hydrogen concentrations 60 min after feeding (P = 0.004), whereas the values detected 30 min after feeding were similar to the baseline values. Regarding the lambs in which clinical signs of diarrhoea developed, we revealed significantly higher baseline breath hydrogen concentrations compared to those which remained healthy (P < 0.001). Our observations underline that hydrogen breath test may be a useful tool for indicating potential bacterial overgrowth before any clinical signs of diarrhoea.
Diagnosis, diarrhoea, hydrogen breath test
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