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result(s) for
"Stepanyan, Lilit"
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High-throughput, high-fidelity HLA genotyping with deep sequencing
2012
Human leukocyte antigen (HLA) genes are the most polymorphic in the human genome. They play a pivotal role in the immune response and have been implicated in numerous human pathologies, especially autoimmunity and infectious diseases. Despite their importance, however, they are rarely characterized comprehensively because of the prohibitive cost of standard technologies and the technical challenges of accurately discriminating between these highly related genes and their many allelles. Here we demonstrate a high-resolution, and cost-effective methodology to type HLA genes by sequencing, which combines the advantage of long-range amplification, the power of high-throughput sequencing platforms, and a unique genotyping algorithm. We calibrated our method for HLA-A, -B, -C, and -DRB1 genes with both reference cell lines and clinical samples and identified several previously undescribed alleles with mismatches, insertions, and deletions. We have further demonstrated the utility of this method in a clinical setting by typing five clinical samples in an Illumina MiSeq instrument with a 5-d turnaround. Overall, this technology has the capacity to deliver low-cost, high-throughput, and accurate HLA typing by multiplexing thousands of samples in a single sequencing run, which will enable comprehensive disease-association studies with large cohorts. Furthermore, this approach can also be extended to include other polymorphic genes.
Journal Article
The dynamics of phytoplankton seasonal development and its horizontal distribution in Lake Sevan (Armenia)
by
Hovsepyan, Anahit
,
Khachikyan, Termine
,
Stepanyan, Lilit
in
Agricultural production
,
Algae
,
Algal blooms
2022
High-altitude freshwater lakes are experiencing ever-increasing risk of harmful algal blooms (HABs) on the face of climate change and a growing demand on agricultural production. The biggest alpine lake of the Caucasus, Lake Sevan, has “blooming” recently almost every year. Thus, the study of phytoplankton community’ development patterns in Lake Sevan is gaining urgency. The aim of the work has been the study of the seasonal dynamics of quantitative and qualitative characteristics of phytoplankton in Lake Sevan. Also, we have tried to determine the features of horizontal distribution of phytoplankton within different seasons with the focus on Cyanobacteria distribution to identify current spatial–temporal features of HABs in Lake Sevan. Seasonal ground data collected from the photic zone of 178 stations in 2016–2018 was analysed and spatially interpolated. The results of analysis of seasonal dynamics of phytoplankton groups abundance have revealed the increased role of Cyanobacteria in the algal “blooms”. Particularly, HABs were led by the dominant species of the genus
Dolichospermum/Anabaena
that are potentially toxic. Univariate analysis of variance with the post hoc Tukey test has proved the significance of changes in the quantitative parameters of phytoplankton development within years with the peak in 2018. Some antagonistic relations between the groups of phytoplankton under the HAB events were also shown through factorial and correlation analysis. Spatial interpolations revealed very limited extents of HABs compared with “blooms” led by Bacillariophyta species. HABs were mainly occurring in the littoral zone in a close proximity to the estuaries of Lake Sevan major tributaries.
Journal Article
100 Primary tubal carcinoma in a young women. A case report
by
Stepanyan, Artem
,
Babloyan, Syuzanna
,
Hovsepyan, Lilit
in
Cancer
,
Fallopian tubes
,
Laparoscopy
2024
Introduction/BackgroundPrimary peritoneal serous carcinoma is thought to arise from the peritoneum, however according the data fallopian tubes may be a source of many of peritoneal and ovarian carcinomatosis. Primary fallopian tube carcinoma is a rare. Often chronic tubal inflammation is associated with the primary carcinoma of the fallopian tube.MethodologyWe presented a case of 29 year old women, who was admitted in gynecological department in December 2017 with lower abdominal and pelvic pain. Patient has 2 pregnancies in 2012 and 2016 and was delivered by cesarean section. During the bimanual examination, the normal size of the movable uterus and normal adnexa were detected. Transvaginal (TVS) ultrasound examination find a normal size ovaries, sausage-shaped cystic structure 4.7 x 4.4 x 3.9 cm on the right side and a small ovoid solid component 2.1x1.2cm and 1.9 x1.3cm in tubal angles of the uterus. A solid component was moderately vascularized on color Doppler ultrasound. CT scan were carried out and identified normal size ovaries with some calcification on the surface, disseminated, peptic, on the surface of the pelvic peritoneum. No other special findings were found. Diagnostic laparoscopy was performed.ResultsA staging laparoscopy with multiple biopsy of suspicion lesions from surface of adnexal, peritoneum, colon, omentum and parametrical tissue performed. Frosen section and final histological examination combined with immunohistochemical investigation has confirmed primary tubal low grade G1 serous carcinoma. A patient referred for future treatment and follow-up.ConclusionOften primary fallopian tube cancers may misdiagnosed as primary ovarian cancers, however experienced pathologist can helps to correlate the ultrasound findings and to differentiate primary fallopian carcinoma. According to literature ultrasound findings of a vascularized sausage-shaped structure with an ovoid solid components in the pelvis with moderate or sever vascularization should raise the suspicion of tubal cancer, especially if normal ovarian tissue identified.DisclosuresNone.Abstract 100 Figure 1
Journal Article
Genetic variability of interleukin-1 beta as prospective factor from developing post-traumatic stress disorder
2017
Individual susceptibility to post-traumatic stress disorder (PTSD) is conditioned by genetic factors, and association between this disorder and polymorphisms of several genes have been shown. The aim of this study was to explore a potential association between single nucleotide polymorphisms (SNP) of the IL-1β gene (
IL1B
) and PTSD. In genomic DNA samples of PTSD-affected and healthy subjects, the rs16944, rs1143634, rs2853550, rs1143643, and rs1143633 SNPs of
IL1B
gene have been genotyped. The results obtained demonstrated that
IL1B
rs1143633*C and rs16944*A minor allele frequency were significantly lower in patients than in controls. Our results confirm that
IL1B
rs1143633 and rs16944 SNPs are negatively associated with PTSD which allows us to consider them as protective variants for PTSD.
IL1B
rs1143633*C and rs16944*A minor allele frequencies and carriage rates are significantly lower in the PTSD patients as compared to the controls. These results may provide a base to conclude that above-mentioned alleles can be protective against PTSD, and
IL1B
gene can be involved in the pathogenesis of this disorder.
Journal Article