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The follow up of 114 fetuses and newborns (without chromosomal aberrations) with echogenic intracardiac focus detected in prenatal USG

Abstract

Introduction: The majority of research regarding echogenic intracardiac focus (EIF) concentrates on its weak correlation with the occurrence of Down syndrome. The aim of our research was to approach this problem from a wider perspective and to find out, if the prenatal diagnosis of EIF is connected with the occurrence of other abnormalities of prenatal and postnatal period.

Materials & Methods: The data of 114 patients with prenatally diagnosed EIF were analyzed retrospectively. No fetal or neonatal chromosomal abnormalities were included.

Results: In 13/114 (11,4%) fetuses cardiological abnormalities other then EIF were diagnosed: 8/114 (7%) cases of congenital heart defects and 7/114 (6,1%) cases of tricuspid valve regurgitation. Extracardiac malformations were diagnosed in 11/114 (8,8%) of fetuses. In 7/114 (6,1%) of the cases the abnormal volume of amniotic fluid was diagnosed. In 4/114 (3,5%) of pregnancies the premature rapture of membranes (PROM) occurred. Six, 6/114 (5,3%) of pregnancies were at risk of intrauterine asphyxia in perinatal period. 12/114 (10,5%) newborns were delivered before 37th week of gestation, stillbirth occurred in 1/114 (0,9%) case. Most newborns (86/114; 75,4%) birth weight >3000g. In 19/114 (16,7%) of newborns birth weight was 2500g-3000g. In 9/114 (7,9%) of newborns birth weight was <2500g

Conclusions: Fetuses with EIF without chromosomal aberrations may present heart defects which are hard to diagnose in basic obstetrical USG scan. Therefore, those patients should be directed to prenatal cardiology facilities for evaluation of the fetal heart.

Prenatal EIF in fetuses without chromosomal aberrations may indicate low birth weight (<2500g) in the future. Further research of this matter is needed.

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The role of the Amyloid Precursor Protein mutations and PERK-dependent signaling pathways in the pathogenesis of Alzheimer’s disease

. Molecular neurodegeneration, 2: 22. Cooper, G. M. 2000. The cell: a molecular approach. ASM Press Sinauer Associates, Washington, D.C. Sunderland, Massachusetts. Decock, M., Stanga, S., Octave, J. N., Dewachter, I., Smith, S. O., Constantinescu, S. N. & Kienlen-Campard, P. 2016. Glycines from the APP GXXXG/GXXXA Transmembrane Motifs Promote Formation of Pathogenic Abeta Oligomers in Cells. Frontiers in aging neuroscience, 8: 107. Devi, L. & Ohno, M. 2014. PERK mediates eIF2alpha phosphorylation responsible for BACE1 elevation, CREB dysfunction and

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Genes regulating programmed cell death are significantly upregulated in porcine immature oocytes

TGFbeta-regulated zinc finger encoding gene, TIEG, induces apoptosis in pancreatic epithelial cells. J Clin Invest. 1997;99:2365–74; DOI:10.1172/JCI119418. 23. Shi Y, Vattem KM, Sood R, An J, Liang J, Stramm L, Wek RC. Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control. Mol Cell Biol. 1998;18:7499–509. 24. Shi Y, An J, Liang J, Hayes SE, Sandusky GE, Stramm LE, Yang NN. Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with

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Vhl Dependent Expression of REDD1 and PDK3 Proteins in Clear-Cell Renal Cell Carcinoma

Summary

Background: Sporadic clear-cell renal cell carcinoma (ccRCC) is associated with mutations in the VHL gene, upregulated mammalian target of rapamycin (mTOR) activity and glycolytic metabolism. Here, we analyze the effect of VHL mutational status on the expression level of mTOR, eIF4E-BP1, AMPK, REDD1, and PDK3 proteins. Methods: Total proteins were isolated from 21 tumorous samples with biallelic inactivation, 10 with monoallelic inactivation and 6 tumors with a wild-type VHL (wtVHL) gene obtained from patients who underwent total nephrectomy. The expressions of target proteins were assessed using Western blot. results: Expressions of mTOR, eIF4EBP1 and AMPK were VHL independent. Tumors with monoallelic inactivation of VHL underexpressed REDD1 in comparison to wtVHL tumors (P = 0.042), tumors with biallelic VHL inactivation (P < 0.005) and control tissue (P = 0.004). Additionally, REDD1 expression was higher in tumors with VHL biallelic inactivation than in control tissue (P = 0.008). Only in wt tumor samples PDK3 was overexpressed in comparison to tumors with biallelic inactivation of VHL gene (P = 0.012) and controls (P = 0.016). In wtVHL ccRCC, multivariate linear regression analysis revealed that 97.4% of variability in PDK3 expression can be explained by variations in AMPK amount. Conclusion: Expressions of mTOR, eIF4EBP1 and AMPK were VHL independent. We have shown for the first time VHL dependent expression of PDK3 and we provide additional evidence that VHL mutational status affects REDD1 expression in sporadic ccRCC.

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Protein oligomerization is the biochemical process highly up-regulated in porcine oocytes before in vitro maturation (IVM)

Abstract

A wide variety of mechanisms controlling oligomerization are observed. The dynamic nature of protein oligomerization is important for bioactivity control. The oocyte must undergo a series of changes to become a mature form before it can fully participate in the processes associated with its function as a female gamete. The growth of oocytes in the follicular environment is accompanied by surrounding somatic cumulus (CCs) and granulosa cells (GCs). It has been shown that oocytes tested before and after in vitro maturation (IVM) differ significantly in the transcriptomic and proteomic profiles. The aim of this study was to determine new proteomic markers for the oligomerization of porcine oocyte proteins that are associated with cell maturation competence. The Affymetrix microarray assay was performed to examine the gene expression profile associated with protein oligomerization in oocytes before and after IVM. In total, 12258 different transcriptomes were analyzed, of which 419 genes with lower expression in oocytes after IVM. We found 9 genes: GJA1, VCP, JUP, MIF, MAP3K1, INSR, ANGPTL4, EIF2AK3, DECR1, which were significantly down-regulated in oocytes after IVM (in vitro group) compared to oocytes analyzed before IVM (in vivo group). The higher expression of genes involved in the oligomerization of the protein before IVM indicates that they can be recognized as important markers of biological activation of proteins necessary for the further growth and development of pig embryos.

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TWENTY-FOUR GENES ARE UPREGULATED IN PATIENTS WITH HYPOSPADIAS

ABSTRACT

Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along the ventral surface, and has been reported to be one of the most common congenital anomalies, occurring in approximately 1:250 to 1:300 live births. As hypospadias is reported to be an easily diagnosed malformation at the crossroads of genetics and environment, it is important to study the genetic component in order to elucidate its etiology. In this study, the gene expression profiles both in human hypospadias tissues and normal penile tissues were studied by Human Gene Expression Array. Twentyfour genes were found to be upregulated. Among these, ATF3 and CYR61 have been reported previously. Other genes that have not been previously reported were also found to be upregulated: BTG2, CD69, CD9, DUSP1, EGR1, EIF4A1, FOS, FOSB, HBEGF, HNRNPUL1, IER2, JUN, JUNB, KLF2, NR4A1, NR4A2, PTGS2, RGS1, RTN4, SLC25A25, SOCS3 and ZFP36 (p <0.05). Further studies including genome-wide association studies (GWAS) with expression studies in a large patient group will help us for identifiying the candidate gene(s) in the etiology of hypospadias

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The New Paternalism as Intercultural Management Mode in the Relocated Businesses in Central Europe

, première édition 1922) Communauté et société. Catégories fondamentales de la sociologie pure. I ntroduction e t t raduction d e J . L eif. P aris, L es Presses universitaires de France. Touraine, A. (1969) La société post-industrielle. Paris, Denoël.

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Optimalization of preparation of apocytochrome b5 utilizing apo-myoglobin

AJ (1994) His64- (E7)-Tyr apomyoglobin as a reagent for measuring rates of hemin dissociation. J Bio Chem   269 : 4207-4214. Miksanova M, Igarashi J, Minami M, Sagami I, Yamauchi S, Kurokawa H and Shimizu T (2006) Characterization of heme-regulated eIF2alpha kinase: roles of the N-terminal domain in the oligomeric state, heme binding, catalysis, and inhibition. Biochemistry   45 : 9894-905. Rossi-Fanelli A, Antonini E, Caputo A. (1959) Studies on the structure of hemoglobin. II. Properties of reconstituted

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Effect of Cardiopulmonary Bypass on Annexin A1 Expression in Peripheral Blood Mononuclear Cells of Children with Congenital Heart Disease

Effect of Cardiopulmonary Bypass on Annexin A1 Expression in Peripheral Blood Mononuclear Cells of Children with Congenital Heart Disease

This study aimed to investigate the effect of cardiopulmonary bypass (CPB) on Annexin A1 expression in the peripheral blood mononuclear cells (PBMCs) of children with congenital heart disease (CHD). A total of 30 children receiving CPB for interventricular septal defect were included. Peripheral blood was collected before and after CPB. PBMCs were collected by density gradient centrifugation. Protein extraction was performed by lysis and subjected to 2D-QUANT for protein quantitation. Isoelectric focusing electrophoresis (IEF) was carried out followed by gel image analysis. Protein spots with a difference in expression of >1.5 fold were collected as candidate proteins which were subjected to mass spectrometry for the identification of differentially expressed proteins. Western blot assay was employed to confirm the expressions of target proteins. Peripheral blood collected at two time points was subjected to two-dimensional electrophoresis, and a total of 12 differentially expressed proteins were identified. Of them, 5 proteins had decreased expression before CPB (T0) but their expressions increased after CPB (T1); the remaining 7 proteins had increased expressions before CPB but their expressions reduced after CPB. One of these differentially expressed proteins was Annexin A1. Western blot assay confirmed that Annexin A1 expression began to increase at 0.5 h after CPB, and the increase of Annexin A1 was more obvious after CPB. Our findings primarily indicate the potential mechanism underlying the role of PBMC in inflammatory response following CPB, and provide a target for the prevention and control of post-CPB systemic inflammatory response syndrome (SIRS).

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Hydrops Fetalis and Congenital Pulmonary Capillary Haemangiomatosis in a Premature Infant - A Case Report and Literature Review

hemangiomatosis associated with primary pulmonary hypertension. Report of 2 new cases and review of 35 cases from the literature. Medicine (Baltimore) 81: 417-424 14. Best DH, Sumner KL, Austin ED et al, EIF2AK4 mutations in pulmonary capillary haemangiomatosis. Chest 2014, 145:231-236 15. Langleben D, Heneghan JM, Batten AP et al. Familial pulmonary capillary hemagiomatosis resulting in primary pulmonary hypertension. Ann Intern Med 1988; 109: 106-109

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