scholarly journals Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Karol Charkiewicz ◽  
Monika Zbucka-Kretowska ◽  
Joanna Goscik ◽  
Slawomir Wolczynski ◽  
Adam Lemancewicz ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Biochemical Markers ◽  
Cross Validation ◽  
Chromosomal Abnormalities ◽  
Protein Microarray ◽  
Maternal Plasma ◽  
Second Step ◽  
Study Group ◽  
Specificity And Sensitivity

Imbalance in the metabolites levels which can potentially be related to certain fetal chromosomal abnormalities can stimulate mother’s immune response to produce autoantibodies directed against proteins. The aim of the study was to determine the concentration of 9000 autoantibodies in maternal plasma to detect fetal Down syndrome.Method.We performed 190 amniocenteses and found 10 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation). For the purpose of our control we chose 11 women without confirmed chromosomal aberration. To assess the expression of autoantibodies in the blood plasma, we used a protein microarray, which allows for simultaneous determination of 9000 proteins per sample.Results.We revealed 213 statistically significant autoantibodies, whose expression decreased or increased in the study group with fetal Down syndrome. The second step was to create a classifier of Down syndrome pregnancy, which includes 14 antibodies. The predictive value of the classifier (specificity and sensitivity) is 100%, classification errors, 0%, cross-validation errors, 0%.Conclusion.Our findings suggest that the autoantibodies may play a role in the pathophysiology of Down syndrome pregnancy. Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients.

scholarly journals Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Piotr Laudanski ◽  
Monika Zbucka-Kretowska ◽  
Karol Charkiewicz ◽  
Slawomir Wolczynski ◽  
Daniela Wojcik ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Amniotic Fluid ◽  
Blood Plasma ◽  
Simultaneous Determination ◽  
Biochemical Markers ◽  
Chromosomal Abnormalities ◽  
Inflammatory Responses ◽  
Maternal Plasma ◽  
Protein Macroarray

Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome.Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation). For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample.Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2) in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome.Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

scholarly journals Quantitative Proteomic (iTRAQ) Analysis of 1st Trimester Maternal Plasma Samples in Pregnancies at Risk for Preeclampsia

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Varaprasad Kolla ◽  
Paul Jenö ◽  
Suzette Moes ◽  
Olav Lapaire ◽  
Irene Hoesli ◽  
...  
Keyword(s):  
At Risk ◽  
Down Syndrome ◽  
Maternal Plasma ◽  
Control Group ◽  
Study Group ◽  
Plasma Samples ◽  
Itraq Analysis ◽  
Galectin 3 ◽  
Healthy Control ◽  
A Current

A current major obstacle is that no reliable screening markers exist to detect pregnancies at risk for preeclampsia. Quantitative proteomic analysis employing isobaric labelling (iTRAQ) has been suggested to be suitable for the detection of potential plasma biomarkers, a feature we recently verified in analysis of pregnancies with Down syndrome foetuses. We have now examined whether this approach could yield biomarkers to screen pregnancies at risk for preeclampsia. In our study, we used maternal plasma samples obtained at 12 weeks of gestation, six from women who subsequently developed preeclampsia and six with uncomplicated deliveries. In our analysis, we observed elevations in 10 proteins out of 64 proteins in the preeclampsia study group when compared to the healthy control group. These proteins included clusterin, fibrinogen, fibronectin, and angiotensinogen, increased levels of which are known to be associated with preeclampsia. An elevation in the immune-modulatory molecule, galectin 3 binding protein, was also noted. Our pilot study, therefore, indicates that quantitative proteomic iTRAQ analysis could be a useful tool for the detection of new preeclampsia screening markers.

scholarly journals Prenatal Screening of Aneuploidies

2021 ◽  
Author(s):  
Madhavilatha Routhu ◽  
Shiva Surya Varalakshmi Koneru
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Plasma ◽  
Structural Defects ◽  
Screening Methods ◽  
Second Trimester ◽  
History Of

Chromosomal abnormalities includes1) abnormalities in number of chromosomes which are known as aneuploidies and 2) structural defects like translocations and deletions. In this we will discuss about Aneuploidies The incidence of Aneuploidy is around one in 200 live births. Aneuploidy increases with advancing maternal age. Fetal aneuploidy has been associated with significant pregnancy complications such as growth restriction, congenital malformations and perinatal deaths. Several Major developments are happened in prenatal screening of Aneuploidy especially the introduction of first trimester screen with Nuchal thickness and fetal cell free DNA in maternal plasma and identification of ultrasound markers and biochemical screening in second trimester. In this chapter we will discuss about what are trisomies, why “Down syndrome” is important to detect prenatally, history of “Down syndrome”, advances in screening methods biochemical as well as sonographic markers in first and second trimester and the criteria to get those markers. What are the features of trisomy 21, trisomy18 and trisomy13.

SEX DETERMINATION OF FETUS PRENATAL FROM MATERNAL PLASMA BY USING DUPLEX PCR TECHNIQUE IN GOAT

2014 ◽  
Vol 13 (1) ◽  
pp. 50-59
Author(s):  
A NisreenYasirJasim ◽  
Tahir A. Fahid ◽  
Talib Ahmed Jaayid
Keyword(s):  
Sex Determination ◽  
Maternal Plasma ◽  
Duplex Pcr

Methods for the Quantification of Salivary Cortisol and of a-amylase in Biosensors and Portable Devices

2018 ◽  
Vol 68 (12) ◽  
pp. 2857-2859
Author(s):  
Cristina Mihaela Ghiciuc ◽  
Andreea Silvana Szalontay ◽  
Luminita Radulescu ◽  
Sebastian Cozma ◽  
Catalina Elena Lupusoru ◽  
...  
Keyword(s):  
Real Time ◽  
Medical Practice ◽  
Salivary Cortisol ◽  
Clinical Studies ◽  
Large Scale ◽  
Psychological Research ◽  
Portable Devices ◽  
Salivary Amylase ◽  
Specificity And Sensitivity

There is an increasing interest in the analysis of salivary biomarkers for medical practice. The objective of this article was to identify the specificity and sensitivity of quantification methods used in biosensors or portable devices for the determination of salivary cortisol and salivary a-amylase. There are no biosensors and portable devices for salivary amylase and cortisol that are used on a large scale in clinical studies. These devices would be useful in assessing more real-time psychological research in the future.

Lung disease manifestations in Down Syndrome

2021 ◽  
Author(s):  
Soula Danopoulos ◽  
Gail H. Deutsch ◽  
Claire Dumortier ◽  
Thomas Jay Mariani ◽  
Denise Al Alam
Keyword(s):  
Down Syndrome ◽  
Lung Disease ◽  
Chromosomal Abnormalities ◽  
Respiratory Illness ◽  
Multiple Organ ◽  
Upper Airways ◽  
Live Births ◽  
Organ Systems ◽  
Entire Lung ◽  
Lower Airways

Down Syndrome (DS) is one of the most prevalent chromosomal abnormalities world-wide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx, trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies, however many of these disorders present early in infancy supporting developmental mechanisms. In this review we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.

“CHANGES IN THE NERVOUS SYSTEM IN PATIENTS WITH DIABETES MELLITUS TYPE 2 WITH NEPHROPATHY AND PROGNOSTIC SIGNIFICANCE OF NEUROMARKERS OF BRAIN INJURY. LITERATURE REVIEW"

2021 ◽  
pp. 3-8
Author(s):  
Yu. Urmanova ◽  
A. Holikov
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Nervous System ◽  
Type 2 Diabetes Mellitus ◽  
Biochemical Markers ◽  
Prognostic Significance ◽  
Functional Changes ◽  
Neurospecific Proteins

THE PURPOSE OF THE STUDY is to carry out an analysis of the literature evaluating diabetic encephalopathy by determining neuromarkers. MATERIAL AND METHODS. In this article, the authors analyzed the literature on the role of neuromarkers in patients with type 2 diabetes mellitus undergoing program hemodialysis. RESEARCH RESULTS. Among biochemical markers, the determination of the level of neurospecific proteins is actively being investigated. The main part of them is autoantigens, entering the bloodstream, can cause the appearance of autoantibodies, which, when the blood-brain barrier is impaired, enter the brain from the blood vessel and cause morphological changes, destructive processes in neurons, as well as the development of nonspecific acute-phase reactions like edema or inflammation. Biomarker studies for the diagnosis of various brain lesions have been under way for more than 20 years, but at present no ideal biomarker has been found. Among biochemical markers, the determination of the level of neurospecific proteins is being actively studied. In patients with type 2 diabetes mellitus undergoing hemodialysis, this issue is also relevant in view of the frequent vascular cerebrovascular complications, but few studies have been conducted. CONCLUSIONS. All of the above emphasizes the need to identify the features of clinical and functional changes in the nervous system in patients with type 2 diabetes mellitus receiving program hemodialysis and to evaluate the prognostic value of neuromarkers in early detection of the degree of brain damage. 

IMPORTANCE OF ANTIBODIES TO 21-HYDROXYLASE FOR THE DIAGNOSIS, DIFFERENTIAL DIAGNOSIS AND PROGNOSIS OF AUTOIMMUNE CHRONIC PRIMARY ADRENAL INSUFFICIENCY

2021 ◽  
Vol 100 (2) ◽  
pp. 78-86
Author(s):  
L.S. Sozaeva ◽  
◽  
N.V. Makazan ◽  
L.V. Nikankina ◽  
N.M. Malysheva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adrenal Insufficiency ◽  
Predictive Value ◽  
Primary Adrenal Insufficiency ◽  
Polyglandular Autoimmune Syndrome ◽  
Diagnosis And Prognosis ◽  
Specificity And Sensitivity ◽  
Enzymelinked Immunosorbent Assay

21-hydroxylase (21-OH) is the main antigen of the adrenal cortex, so the determination of antibodies (Ab) to 21-OH can help in the diagnosis and prognosis of chronic primary adrenal insufficiency (CPAI). Purpose of the study: evaluation of the relevance of Ab to 21-OH for the diagnosis and prediction of autoimmune CPAI. Materials and methods of research: the study consisted of three blocks: 1) assessment of the specificity and sensitivity, as well as the prognostic potential of Ab to 21-OH in patients with polyglandular autoimmune syndrome (APS) – individuals with APS type 1 with and without CPAI (n=106); 2) assessment of the dynamics of the level of Ab to 21-OH – patients with autoimmune CPAI were included (n=41); 3) assessment of the significance of Ab data for the differential diagnosis of various forms of CPAI, including patients with CPAI and APS type 1 exclusion (n=30). The study of Ab to 21-hydroxylase was performed using enzymelinked immunosorbent assay (BioVendor kits, Czech Republic). Results: statistically significant differences were obtained in the frequency of detection of Ab to 21-OH in patients with or without PCNI (p<0,001). The sensitivity of the method was 96%, specificity was 75%, a positive predictive value was 90%, and the negative predictive value was 89%. In 83% of patients, the level of Ab decreased with time (median size decreases – 20,4%/year). An inverse relationship was also found between the level of Ab and the duration of the course of CPAI (R=–0,460, p<0,001). In a group of 30 patients with CPAI and with exclusion of APS type 1, 21 were found to have Ab to 21-OH, only one of them had a monogenic non-autoimmune cause of CPAI (a mutation in the MC2R gene). Monogenic forms of CPAI were found in another 7 patients (mutations were found in the DAX1 and ABCD1 genes), among them an increase in Ab to 21-OH was not detected. Conclusion: determination of Ab to 21-OH is a specific and sensitive method for the diagnosis of autoimmune CPAI. An increase in Ab to 21-OH is a risk marker of autoimmune CPAI development.

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