scholarly journals The relationship of genetic factors to the development of nephrolithiasis in primary hyperparathyroidism

2015 ◽  
Author(s):  
Elena Peretokina ◽  
Natalia Mokrysheva ◽  
Lyudmila Rozhinskaya ◽  
Ekaterina Zakharova
2001 ◽  
Vol 91 (6) ◽  
pp. 2776-2784 ◽  
Author(s):  
David M. Herrington ◽  
Karen Potvin Klein

There are a number of genetic factors that likely modulate both the beneficial and adverse effects of estrogen. An important domain of consideration is the relationship of estrogen and thrombosis risk. Gene polymorphisms among the key elements of the coagulation and fibrinolytic cascade appear to influence the effects of estrogen on risk for venous thromboembolic events and possibly arterial thrombosis as well. Emerging data also suggest that allelic variants in the estrogen receptor-α may modulate estrogen's effects, especially with respect to bone and lipid metabolism.


2016 ◽  
Vol 164 (11) ◽  
pp. 715 ◽  
Author(s):  
Michael W. Yeh ◽  
Hui Zhou ◽  
Annette L. Adams ◽  
Philip H.G. Ituarte ◽  
Ning Li ◽  
...  

Twin Research ◽  
2000 ◽  
Vol 3 (1) ◽  
pp. 28-32 ◽  
Author(s):  
Michael J Lyons ◽  
Jonathan Huppert ◽  
Rosemary Toomey ◽  
Rebecca Harley ◽  
Jack Goldberg ◽  
...  

AbstractThere have been long questions about the relationship of schizophrenia to other mental disorders. Lifetime DSM-III-R diagnoses of mood and anxiety disorders in twins with clinically diagnosed schizophrenia (n = 24) and their non-affected co-twins (n = 24) were compared with twins from pairs without schizophrenia (n = 3327) using a sample from the Vietnam Era Twin Registry. Schizophrenic probands had significantly elevated rates of all included disorders (bipolar disorder, major depression, dysthymia, generalized anxiety disorder, panic disorder, and PTSD) compared with controls (P < 0.01). The odd ratios comparing co-twins of schizophrenic probands with controls was greater than three for every disorder, but did not attain statistical significance. A similar pattern was observed when analyses were restricted to only monozygotic twins (n = 12). Consistent with other studies, schizophrenics appeared to have higher rates of a range of mental disorders. Our results suggest that schizophrenia per se represents a risk factor for other psychiatric disorders, but the absence of significantly elevated risk among non-schizophrenic co-twins suggested that family environmental and/or genetic factors that contribute to risk of schizophrenia do not increase the risk of mood and anxiety disorders to the same extent that the risk of these other disorders is increased by the presence of schizophrenia. Twin Research (2000) 3, 28–32.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Enkhmaa Byambaa ◽  
Kyoungmi Kim ◽  
Wei Zhang ◽  
Kevin Truax ◽  
Anuurad Erdembileg ◽  
...  

Abstract Introduction: An elevated level of lipoprotein(a) [Lp(a)] is an independent causal risk factor for cardiovascular disease. Non-genetic factors do not appreciably influence Lp(a) levels due to a strong genetic control. However, inhibition of proprotein convertase subtilisin/kexin type 9 (PCSK9) has been shown to reduce Lp(a) levels. The association of PCSK9 with Lp(a) level and its major genetic determinant—apolipoprotein(a) [apo(a)] size—is not fully understood. In this study, we assessed the relationship between PCSK9, Lp(a) level, apo(a) size, age, and race/ethnicity. Methods: Healthy Caucasian and African-American families were recruited from the general population (age range: 6–74 years, N=267). PCSK9 and Lp(a) levels were assayed enzymatically; apo(a) isoform and LPA allele sizes and isoform-specific Lp(a) levels were determined. Results: In all participants, PCSK9 levels differed significantly by race/ethnicity, age, and sex. Thus, the mean PCSK9 levels were significantly higher in African-Americans vs. Caucasians (104 ± 29 vs. 95 ± 30 ng/mL, respectively, p=0.020), in adults vs. children (102 ± 29 vs. 92 ± 31 ng/mL, respectively, p=0.001) and in females vs. males (103 ± 30 vs. 94 ± 29 ng/mL, respectively, p=0.007). PCSK9 levels were not associated with total plasma Lp(a) levels neither in all participants nor in ethnicity-specific analyses. However, PCSK9 levels were significantly and positively associated with isoform-specific Lp(a) levels carried by the larger apo(a) size in all subjects (r=0.139, p=0.0361). In race/ethnicity analyses, a significant association was seen for African-Americans (r=0.268, p=0.0199), but not for Caucasians. In contrast, there were no significant associations of PCSK9 with isoform-specific Lp(a) levels for the smaller apo(a) sizes in all participants nor in ethnic-specific analyses. Of note, PCSK9 levels were significantly negatively associated with the larger apo(a) isoform sizes in all participants (r=-0.139, p=0.0366). Although significant in both groups, heritability of PCSK9 level was higher in Caucasians than in African-Americans (47% vs. 22%, respectively). Conclusions: Among African-Americans, but not Caucasians, PCSK9 levels were associated with isoform-specific Lp(a) levels carried on larger, but not smaller, apo(a) sizes. The findings illustrate a diverging relationship of PCSK9 with isoform-specific Lp(a) levels.


Author(s):  
O. P. Bobrova ◽  
N. A. Shnayder ◽  
M. M. Petrova ◽  
S. N. Zobova ◽  
Yu. A. Dykhno ◽  
...  

Aim. To develop a model for the implementation of opioid - associated neurotoxicity in patients with pancreatic cancer based on an analysis of the relationship of clinical and genetic factors. Materials and methods. In 45 patients with pancreatic cancer, 54 clinical and genetic factors were studied for predicting the implementation of opioid-associated neurotoxicity, receiving a transdermal form of fentanyl. Results. A clinical genetic model of the implementation of opioid - associated neurotoxicity in patients with pancreatic cancer was developed using the example of a transdermal form of fentanyl Conclusion. The clinical genetic model for predicting the risk of opioid-associated neurotoxicity in patients with pancreatic cancer is important from the perspective of personalized medicine.


2021 ◽  
Vol 03 (03) ◽  
pp. 93-103
Author(s):  
A.G. Ganiev ◽  

The importance of assessment in the educational process and international assessment systems were discussed. There is also information on the dependence of a child's educational opportunities on genetic factors and upbringing. In this regard, it is recommended to use Gardner's "theory of multiplicity of intelligence" to make the most of the child's potential. The article presents a map of the “multi-intelligence theory” of intellect and comments on the relationship of types of intellect to the cerebral hemispheres. A "Child Intelligence Diagram" is also recommended for practice.


2019 ◽  
Vol 70 ◽  
pp. 09009
Author(s):  
Elena Vorobyeva ◽  
Fatima Hakunova ◽  
Irina Skirtach ◽  
Ekaterina Kovsh

This article is a review of modern research on the relationship of genes of neurotransmitter, hormonal and neurotrophic systems of the brain with the work of perceptual and emotional systems of a person. The role of the BDNF, COMT, DRD2, HTR2A and other genes in the processes of visual recognition of words, virtual navigation, social perception, as well as in the implementation of other cognitive, emotional processes and executive functions, is discussed. The prospects of using the accumulated scientific data to study the characteristics of the visual perception of emotionally charged Internet-content with various informational orientations are discussed.


2018 ◽  
Vol 9 (11) ◽  
pp. 1792
Author(s):  
Dwi Ernawati ◽  
Puji Hastuti ◽  
Dhian Satya Rachmawati ◽  
Ari Susanti ◽  
Christina Yuliastuti ◽  
...  

Paleobiology ◽  
1980 ◽  
Vol 6 (02) ◽  
pp. 146-160 ◽  
Author(s):  
William A. Oliver

The Mesozoic-Cenozoic coral Order Scleractinia has been suggested to have originated or evolved (1) by direct descent from the Paleozoic Order Rugosa or (2) by the development of a skeleton in members of one of the anemone groups that probably have existed throughout Phanerozoic time. In spite of much work on the subject, advocates of the direct descent hypothesis have failed to find convincing evidence of this relationship. Critical points are:(1) Rugosan septal insertion is serial; Scleractinian insertion is cyclic; no intermediate stages have been demonstrated. Apparent intermediates are Scleractinia having bilateral cyclic insertion or teratological Rugosa.(2) There is convincing evidence that the skeletons of many Rugosa were calcitic and none are known to be or to have been aragonitic. In contrast, the skeletons of all living Scleractinia are aragonitic and there is evidence that fossil Scleractinia were aragonitic also. The mineralogic difference is almost certainly due to intrinsic biologic factors.(3) No early Triassic corals of either group are known. This fact is not compelling (by itself) but is important in connection with points 1 and 2, because, given direct descent, both changes took place during this only stage in the history of the two groups in which there are no known corals.


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