Publications by authors named "Vladimir S Pakin"
Targeted sequencing analysis of gene identifies novel risk variants associated with preeclampsia.
J Matern Fetal Neonatal Med
September 2019
Article Synopsis
- - Preeclampsia (PE) is a critical pregnancy complication linked to high maternal and fetal mortality, highlighting the need for early diagnosis and treatment.
- - Researchers conducted targeted next-generation sequencing to analyze genetic variations in patients with PE compared to a control group, utilizing bioinformatics tools for assessment.
- - They identified several genetic markers associated with PE and one variant potentially protective against it, but further investigation is needed to fully understand the gene's role in the disease's development during pregnancy.
Pre-eclampsia (PE) is a complication of pregnancy that affects 5‑8% of women after 20 weeks of gestation. It is usually diagnosed based on the de novo onset of hypertension and proteinuria. Preexisting hypertension in women developing PE, also known as superimposed PE on chronic hypertension (SPE), leads to elevated risk of maternal and fetal mortality.
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- Hypertrophic cardiomyopathy is a genetic heart disease that requires early diagnosis, but traditional methods are often ineffective due to the numerous causative genes and mutations involved.
- A custom AmpliSeq panel was developed to analyze key genes associated with cardiomyopathy using next-generation sequencing on both student cohorts and patients, applying statistical software for genetic marker selection.
- The findings revealed multiple gene substitutions linked to cardiomyopathy risk, along with protective genetic variants, demonstrating the potential of this method for improved risk prediction in patients.
Background: Pre-eclampsia is the most common complication occurring during pregnancy. In the majority of cases, it is concurrent with other pathologies in a comorbid manner (frequent co-occurrences in patients), such as diabetes mellitus, gestational diabetes and obesity. Providing bronchial asthma, pulmonary tuberculosis, certain neurodegenerative diseases and cancers as examples, we have shown previously that pairs of inversely comorbid pathologies (rare co-occurrences in patients) are more closely related to each other at the molecular genetic level compared with randomly generated pairs of diseases.
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