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Skryabin N.A.,Tomsk State University | Lebedev I.N.,Tomsk State University | Artukhova V.G.,Krasnoyarsk Center for Reproductive Medicine | Zhigalina D.I.,Tomsk State University | And 3 more authors.
Russian Journal of Genetics | Year: 2015

The discovery of cell-free DNA in the blastocoele fluid is promising for the development of new noninvasive methods for the preimplantation genetic diagnosis of chromosomal diseases. However, there are no data confirming the concordance between the molecular karyotype of cell-free DNA from blastocoele fluid and the blastocyst cells per se. This paper reports on such concordance according to the results of molecular cytogenetic analysis by comparative genomic hybridization. © 2015, Pleiades Publishing, Inc.


Serebrova V.N.,Research Institute of Medical Genetics | Trifonova E.A.,Tomsk State University | Gabidulina T.V.,The Institute for Obstetrics and Gynecology | Bukharina I.Y.,The Institute for Obstetrics and Gynecology | And 4 more authors.
Molecular Biology | Year: 2016

Regulatory single nucleotide polymorphisms (rSNPs) are the least-studied group of SNP; however, they play an essential role in the development of human pathology by altering the level of candidate genes expression. In this work, we analyzed 29 rSNPs in 17 new candidate genes associated with preeclampsia (PE) according to the analysis of the transcriptome in placental tissue. Three ethnic groups have been studied (Yakut, Russian, and Buryat). We have detected significant associations of PE with eight rSNPs in six differentially expressed genes, i.e., rs10423795 in the LHB gene; rs3771787 in the HK2 gene; rs72959687 in the INHA gene; rs12678229, rs2227262, and rs3802252 in the NDRG1 gene; rs34845949 in the SASH1 gene; and rs66707428 in the PPP1R12C gene. We used a new approach to detecting genetic markers of multifactorial diseases in the case of PE based on a combination of genomic, transcriptomic, and bioinformatic approaches. This approach proved its efficiency and may be applied to detecting new potential genetic markers in genes involved in disease pathogenesis, which reduces missing heritability in multifactorial diseases. © 2016, Pleiades Publishing, Inc.


PubMed | The Institute for Obstetrics and Gynecology, Research Institute of Medical Genetics, North East Federal University and Regional Perinatal Center
Type: Journal Article | Journal: Molekuliarnaia biologiia | Year: 2016

Regulatory single nucleotide polymorphisms (rSNPs) are the least-studied group of SNP; however, they play an essential role in the development of human pathology by altering the level of candidate genes expression. In this work, we analyzed 29 rSNPs in 17 new candidate genes associated with preeclampsia (PE) according to the analysis of the transcriptome in placental tissue. Three ethnic groups have been studied (yakut, russian, and buryat). We have detected significant associations of PE with eight rSNPs in six differentially expressed genes, i.e., rs10423795 in the LHB gene; rs3771787 in the HK2 gene; rs72959687 in the INHA gene; rs12678229, rs2227262, and rs3802252 in the NDRG1 gene; rs34845949 in the SASH1 gene; and rs66707428 in the PPP1R12C gene. We used a new approach to detecting genetic markers of multifactorial diseases in the case of PE based on a combination of genomic, transcriptomic, and bioinformatic approaches. This approach proved its efficiency and may be applied to detecting new potential genetic markers in genes involved in disease pathogenesis, which reduces missing heritability in multifactorial diseases.


News Article | February 16, 2017
Site: www.prweb.com

When we think about safety net hospitals, the narrative often turns into one of facilities struggling to make use of limited resources to serve some of the most complex and challenging patient populations. Rarely do we align safety net hospitals with leading edge cognitive technology. But that is exactly what is happening at Grady Health System in Atlanta. Grady Health System (Grady) comprises a network of providers, clinics, and inpatient services that combine to deliver care for metro Atlanta. The system has served the community since 1892 and acted as a healthcare safety net for a diverse and growing population. As of last year, Grady treated almost 41,000 adult and newborn patients admitted to the main hospital and conducted close to 500,000 outpatient visits. Caring for such a large population requires innovation and focus. In 2016, system leadership wanted to find a way to better target resources and identify patients at risk of returning to the hospital within 30 days of discharge. These readmissions pose a real threat to patient health and provider viability. Government mandates focused on reducing preventable readmissions impose hefty fines for performance that doesn’t meet established thresholds. “We landed on Jvion’s Cognitive Clinical Success Machine,” explained Ben McKeeby, Grady’s Chief Information Officer. Cognitive Clinical Success Machine Technology leverages the same power as well know and established search engines and cognitive technologies that understand, reason, and learn. What makes Jvion’s Cognitive Clinical Success Machine unique is its ability to drive patient-specific prioritizations, predictions, recommendations, and interventions that are precise, integrated directly into the clinical workflow, and delivered in a matter of weeks. “The Cognitive Clinical Success Machine that Grady is using leverages self-learning Eigen sphere technology to deliver an ultra-high definition view into the future state of the patient. This view accounts for the tens of thousands of exogenous factors that impact a patient’s risk along with the clinical context provided during the episode of care,” explained Todd Schlesinger, Vice President at Jvion. The machine is making a significant impact on a hard to reach and treat population. In addition to targeting readmissions broadly, the Grady team is using the cognitive science solution to specifically identify those patients with Congestive Heart Failure. Teams across the facility—from inpatient nursing staff to case managers and EMTs—use recommendations from Jvion’s Cognitive Clinical Success Machine to most effectively lower a patient’s risk. “With Jvion’s solution we have a remarkable cognitive appliance that works as seamlessly as any diagnostic test to deliver the most precise and actionable interventions for our patient population,” said McKeeby. “This kind of technology is the future. And with Jvion, cognitive power is finally within reach for healthcare providers.” About Grady Health System Grady Health System is one of the largest safety net health systems in the United States. Grady consists of the 953-bed Grady Memorial Hospital, six neighborhood health centers, Crestview Health & Rehabilitation Center, and Children's Healthcare of Atlanta at Hughes Spalding, which is operated as a Children's affiliate. With its nationally acclaimed emergency medical services, Grady has the premier level I trauma center in the Metro Atlanta region and serves as the 911 ambulance provider for the city of Atlanta. Grady’s American Burn Association/American College of Surgeons verified Burn Center is one of only two in the state. And the Marcus Stroke and Neuroscience Center is a Joint Commission designated Advanced Comprehensive Stroke Center. Other key services include Grady’s Regional Perinatal Center with its Neonatal Intensive Care Unit, Georgia’s first Cancer Center for Excellence, The Avon Comprehensive Breast Center, the Georgia Comprehensive Sickle Cell Center, and the Ponce de Leon Center - one of the top three HIV/AIDS outpatient clinics in the country. About Jvion Jvion delivers a Cognitive Clinical Success Machine that serves as a high-performance appliance for providers and the healthcare community. It activates recommendations that help healthcare providers who need ultra-definition patient-level predictions, prioritizations, interventions, and suggestions produced with unmatched speed, clinical applicability, and verity. The machine delivers the action-level recommendations that will best reduce the likelihood of an adverse event. This capability is enabled by a cognitive engine driven by horsepower that is based on more than a quadrillion clinical and non-clinical considerations and thousands of data elements. The machine’s thousands of self-learning Eigen spheres are applied to this data for each patient in real time to help hundreds of hospitals across the nation reduce target illnesses and diseases. Jvion’s Cognitive Clinical Success Machine includes broad clinical application vectors that, when applied to specific patients, deliver individualized prioritizations, interventions, and suggestions within two weeks. One of the reasons Jvion’s solution is independently ranked number one in clinical predictive science is because the machine is more than accurate, it is effective. Our approach mitigates the “accuracy fallacy” perpetuated within the industry by delivering a true picture of individual patient risk along with the actions that will lead to better health outcomes. Because Jvion’s machine works as a cognitive appliance, it plugs in directly to the existing Electronic Medical Record/clinical systems to deliver recommendations seamlessly into the organic workflow. Clinician and caregiver adoption of Jvion’s recommendations is accelerated because of the “on-demand” nature of the information. The machine outperforms and outsmarts even the highest performing predictive solutions/approaches available. And this performance hasn’t gone unnoticed; Jvion’s solution has won numerous external awards including designation as the #1 Predictive Provider in Healthcare by Black Book Market Research. http://www.jvion.com ###


Zaitsev K.V.,Federal Medical and Biological Agency of Russia | Mezheritskii S.A.,Federal Medical and Biological Agency of Russia | Stepanenko N.P.,Federal Medical and Biological Agency of Russia | Gostyukhina A.A.,Federal Medical and Biological Agency of Russia | And 12 more authors.
Cell and Tissue Biology | Year: 2016

The morphology and immunological phenotype of plastic-adherent cells from human colostrum were studied in an in vitro short-term culture (6–7 days) using antibodies to CD3, CD31, CD34, CD45, CD68, vimentin, and osteocalcin. In 20% of the analyzed cultural flasks, nearly equal proportion of fibroblast-like cells and rounded cells was observed. In the 80% of the flasks, cells of regular shape were detected with the presence of single fibroblasts. The diameter of flattened cells ranged from 10 to 100 μm. All plastic-adherent cells did not express CD3 and showed weak binding (w) to the antibodies against CD31, CD34, and CD45. At the same time, we identified adherent cells that readily bound the antibodies against CD68, vimentin, and osteocalcin. According to the literature data, the CD68 + CD3–CD31wCD34wCD45w immunological phenotype of the majority of the adherent cells from the colostrum allows them to be classified as monocytes/macrophages. High expression of stromal antigens—vimentin and osteocalcin—in 40–45% of the adherent cells in the culturing medium lacking any osteogenic supplements (β-glycerophosphate, ascorbic acid, and dexamethason) implies the presence of osteoblasts in the colostrum, which differentiate from mesenchymal stem cells under the action of humoral factors contained in breast milk. © 2016, Pleiades Publishing, Ltd.


Kazachkov E.L.,Chelyabinsk State Medical Academy | Voropaeva E.E.,Chelyabinsk State Medical Academy | Semenov Yu.A.,Regional Perinatal Center | Pasternak A.E.,Chelyabinsk Regional Morbid Anatomy Bureau | Kazachkova E.A.,Chelyabinsk State Medical Academy
Arkhiv Patologii | Year: 2013

The paper describes a case of giant (123×109×70-mm) placental chorioangioma that is a capillary hemangioma in structure, which led to significantly impaired placental-fetal blood flow to give rise to non-immune hydrops and right heart failure in the fetus at 33 weeks' gestation; obvious polyhydramnios developed. This served as an indication for preterm one-stage cesarean delivery. A premature live girl was born with a weight of 2430 g, a height of 44 cm, Apgar score 6-7. Dynamic echographic monitoring makes it possible to record increased placental tumor sizes and fetal abnormalities and to make a timely decision on delivery, which promotes perinatal death prevention. At 11-month follow-up, the child's physical and mental developments were for age.


Polonikov A.V.,Kursk State Medical University | Yarosh S.L.,Regional Perinatal Center | Kokhtenko E.V.,Kursk State Medical University | Starodubova N.I.,Regional Perinatal Center | And 2 more authors.
Fertility and Sterility | Year: 2010

This study was designed to investigate the association between null polymorphisms of glutathione S-transferase (GST) M1 and T1 genes and idiopathic male infertility in a Russian population including 203 infertile and 227 fertile men. The nondeletion genotype of the GSTT1 gene was found to be strongly associated with the increased risk of idiopathic male infertility and asthenozoospermia. © 2010 by American Society for Reproductive Medicine.


Yarosh S.L.,Kursk State Medical University | Kokhtenko E.V.,Kursk State University | Starodubova N.I.,Regional Perinatal Center | Churnosov M.I.,Belgorod State University | Polonikov A.V.,Regional Perinatal Center
Reproductive Sciences | Year: 2013

The study was designed to investigate the associations of polymorphisms Ile462Val and 3801T>C of the cytochrome P450 1A1 (CYP1A1) gene with idiopathic male infertility (IMI) and to assess the impact of smoking status on the relationship between the polymorphisms and the susceptibility to the disease. DNA samples from 203 patients with IMI and 227 fertile men were genotyped for the polymorphisms by a polymerase chain reaction and restriction fragment length polymorphism methods. We found for the first time that the increased risk of IMI in carriers of genotype 462Ile/Val of the CYP1A1 gene occurred only in smoker men (odds ratio [OR] = 1.91; 95% confidence interval [CI] 1.01-3.59), whereas nonsmoker men did not have the risk of infertility (OR = 1.58; 95% CI 0.66-3.76). The results of our study demonstrate that the analysis of gene-environment interactions is necessary to explain conflicting results of genetic studies of IMI and to improve our understanding of the mechanisms of the disease. © 2013 The Author(s).


Spivak E.M.,Yaroslavl State Medical Academy | Karpova A.L.,St. Petersburg State Medical Academy | Klimachev A.M.,Regional Perinatal Center | Kondakova N.N.,Regional Perinatal Center
Voprosy Prakticheskoi Pediatrii | Year: 2013

The objective. To characterize the clinical status and central hemodynamics in the very preterm newborn children with the functioning arterial duct after 72 hrs of postnatal life and to evaluate the effectiveness of its drug therapy. Patients and methods. The observation included 69 very preterm newborn children with patent arterial duct. After clinicallaboratory, x-ray and echocardiographic examination children were distributed to two groups: the basic group comprised 28 preterm patients with a hemodynamically significant patent arterial duct (HSPAD). The reference group included 41 patients, in whom hemodynamic disorders were not significant. 17 children from the basic group received conservative treatment (ibuprofen) for closure of HSPAD; 16 of them received a full course. Results. Children of the basic group were characterized by a lower average body weight (974 ± 24 vs. 1130 ± 26 g; p < 0.01), a lesser average gestational age (26.7 ± 0.3 vs. 28.4 ± 0.2 wks; p < 0.05); the percentage of children scoring 4 and less by the Apgar scale at the first minute of life was significantly less in this group (67.9 vs. 43.9%; p < 0.05). As was found, a marked syndrome of the central nervous system depression, respiratory disorders and x-ray changes in the lungs were recorded in patients of the basic group significantly (p < 0.05) more frequently. In these children, dilatation of both ventricular cavities, left atrium, aortic root and thickening of the interventricular septum were noted while the contractile and pumping functions of the myocardium were preserved. The effectiveness of ibuprofen therapy of HSPAD was 76.5%. After the completion of the course of treatment PAD persisted only in 4 patients, and hemodynamic disorders in them were not significant yet. Conclusion. The above clinical-functional specificities of the very preterm neonate might be regarded as additional diagnostic criteria of HSPAD, which permit a more precise determination of the indications to its drug-induced closure. The choice of the tactics of management of HSPAD in very preterm children in the early neonatal period should be based on objective clinicaldiagnostic criteria. The use of ibuprofen is an effective way of drug-induced closure of the duct.


Senatorova A.S.,Kharkiv National Medical University | Gonchar M.A.,Kharkiv National Medical University | Boychenko A.D.,Kharkiv National Medical University | Kondratova I.Y.,Kharkiv National Medical University | And 3 more authors.
New Armenian Medical Journal | Year: 2015

Heart rhythm and conductivity disorders may occur at different ages. In doctor’s practice it is important to determine causative factors, which may lead to newborns’ heart rhythm disorder. The research involved examination of 384 newborns at the age of 0-8 days at gestation period of 39.2±1.7 weeks who showed clinical signs of the cardiovascular system (tachy-, bradyarrythmia, systolic murmur, and perioral cyanosis). Thirty seven infants showed heart rhythm disorder. Evaluation of risk factors, which can occur in perinatal period and potentially affect the development of heart rhythm disorders and conductivity, was performed. The analysis of pregnancy course showed that 83.8% (p≤0.05) of mothers had fetomaternal disease including hazard of preterm birth in 62.2% (p≤0.05) of examined mothers, preeclampsia and gestational toxicosis were determined in 37.8%, subcompensated placenta dysfunction in 45.9% and placental abruption in 29.7% of women. Anemia of pregnant women was recorded in 21.6% of expectant mothers. 72.9% (р≤0.05) of infants were born by Caesarian section. Exacerbation of chronic pyelonephritis at the time of pregnancy was found in 10.8% of women, 10.8% of expectant mothers suffered from phlebeurysm of lower limbs. 17.5% of women had burdened heredity of cardiovascular system represented by heart rhythm and conductivity disorders. There was a domination of sinus bradycardia in 56.8% (p<0.05) babies and extrasystole in 32.4% in the heart rhythm disorders. Atrial flutter was observed in one newborn, clinical case is presented; one newborn had QT prolongation syndrome. At the age of 7.2±2.9 days 97.3% (p≤0.05) of patients had heart rhythm normalization. The development of heart rhythm disorders and conductivity in newborns of mothers suffering from extragenital pathology is affected by different unfavorable ante- and perinatal factors, such as pathological pregnancy and delivery. A baby with arrhythmia firstly found in neonatal period requires mandatory consultation with a cardiologist; it needs further examination in a specialized cardiological center/department, follow-up monitoring in polyclinic. © 2015, Yerevan State Medical University. All rights reserved.

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