Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic
The study aimed at the determination of risk factors, their relationship with the development of stenosing lesions of the coronary arteries in different ethnic groups in Kazakhstan.
Primary coronary angiographies of n=640 patients diagnosed with coronary heart disease (CHD) (2017-2019) have been analysed (Almaty, Kazakhstan). The patients were subdivided into: Kazakhs (n=338) and Russians (n=302).
In the Russian group, the chance of arterial hypertension incidence was higher (44% and 33%, p<0.05). In the Russian group, the percentage of obstructive CHD was higher than in the Kazakhs (66% and 57%, p<0.05). There was association between obstructive CHD and risk factors such as male sex, diabetes, smoking, and diastolic blood pressure (DBP) in the Kazakhs (p<0.05). In the Russian group, the relationship between development of CHD and age, level of total cholesterol and high-density lipoprotein (HDL) was higher (p<0.05). There is an association between smoking, diabetes, sex, DBP and the development of CHD in Kazakhs. In the Russian group, CHD was associated with risk factors such as older age, dyslipidaemia and arterial hypertension.
There were significant ethnic differences in the risk factors and CHD, in the Russian group the probability of development of obstructive CHD was higher. There was an association between smoking, diabetes, sex, DBP and the development of CHD in Kazakhs. In the Russian group, CHD was associated with risk factors such as older age, dyslipidaemia and arterial hypertension. These finding indicate the need to develop differentiated programmes for the screening, preventive measures for different ethnic groups.
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