scholarly journals Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

2021 ◽  
Author(s):  
Thierry Nouspikel ◽  
Jean‐Louis Blouin ◽  
Jardena Puder ◽  
Bettina Köhler Ballan ◽  
Valerie M. Schwitzgebel
Keyword(s):  
Precision Medicine ◽  
Diagnostic Test ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Glucokinase Mutations

scholarly journals Prenatal Invasive Testing: A 4-Years Single Institution Experience in Turkey

2016 ◽  
Vol 21 (3) ◽  
Author(s):  
Emre Ekmekçi ◽  
Kutlu Kurt ◽  
Servet Gençdal ◽  
Emine Demirel ◽  
Sefa Kelekçi
Keyword(s):  
Prenatal Diagnosis ◽  
Invasive Procedures ◽  
Single Institution ◽  
Abnormal Karyotype ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Ultrasound Findings ◽  
Demographic Distribution ◽  
Fetal Karyotype

<p><strong>OBJECTIVE:</strong> Evaluation of indications, methods and results of prenatal diagnostic invasive procedures performed in our clinic in a four-year process and interpretation of relations between them.</p><p><strong>STUDY DESIGN:</strong> In this study 553 patients were examined retrospectively, who were undergone prenatal invasive procedures in our clinic for determination of fetal karyotype. Demographic distribution of the patients, indications for tests and results were examined, complications were evaluated depending on the procedure.</p><p><strong>RESULTS:</strong> A total of 41 abnormal karyotype pregnancies detected, the most common abnormal karyotype was trisomy 21 and most of abnormal karyotypes were detected in patients who undergone invasive diagnostic tests due to abnormal ultrasound findings. Abortion is resulted at two patients.</p><p><strong>CONCLUSION:</strong> Although non-invasive prenatal diagnosis is more accessible today and has become more preferable, prenatal invasive diagnosing still remains its importance in prenatal diagnosis. Especially in the cases with presence of abnormal ultrasound findings, invasive prenatal diagnosis should be the primary diagnostic method.</p>

INFLUENCE OF OFFICE BLEACHING SYSTEMS ON THE RESISTANCE OF HARD TOOTH TISSUES

2020 ◽  
pp. 119-125
Author(s):  
Magsumova O.A. ◽  
Postnikov M.A. ◽  
Ryskina E.A. ◽  
Tkach T.M. ◽  
Polkanova V.A.
Keyword(s):  
Informed Consent ◽  
Oral Fluid ◽  
Personal Data ◽  
Acid Resistance ◽  
Non Invasive ◽  
Hard Tissues ◽  
Voluntary Informed Consent

One of the non-invasive methods for treating discoloration of hard tooth tissues is teeth whitening. The aim of this work is to assess the dynamics of changes in the acid resistance of enamel and hard tissues of teeth and the rate of its remineralization after the procedure of office teeth whitening. The study involved 123 patients aged 18 to 35 years with discoloration of various origins, with the color of hard tooth tissues on the Vita Classic A2 scale and darker. Before performing the office, teeth whitening procedure, all patients gave their written voluntary informed consent to participate in this study, as well as consent to the processing of personal data. Depending on the chosen method of office teeth whitening, patients were divided into 3 groups. The resistance of hard tooth tissues was judged based on the determination of TOER and CASRE tests. These indicators were determined at various times (5 days before the office teeth whitening procedure, 5 days after it, after 14, 30 days and 6 months). Regardless of the chosen whitening system, the office teeth whitening procedure is accompanied by a decrease in the enamel's resistance to acids and a decrease in the rate of its remineralization. The remineralizing function of oral fluid promotes the positive dynamics of the studied parameters after 14 days and after 30 days values increased due to the appointment of remineralizing therapy to all patients in 2 weeks after the teeth whitening procedure. After 6 months, all patients had high enamel resistance and the rate of its remineralization.

Diagnostic Value of Non-Invasive Prenatal Screening of β-thalassemia by Cell Free Fetal DNA and Fetal NRBC

2019 ◽  
Vol 19 (2) ◽  
pp. 105-111
Author(s):  
Nadia Shafei ◽  
Mohammad Saeed Hakhamaneshi ◽  
Massoud Houshmand ◽  
Siavash Gerayeshnejad ◽  
Fardin Fathi ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Multiple Displacement Amplification ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Beta Thalassemia ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

Optimization of Extraction Parameters of Reverse Iontophoretic Determination of Blood Glucose in an Artificial Skin Model

2020 ◽  
Vol 16 (6) ◽  
pp. 722-737
Author(s):  
Cigdem Yengin ◽  
Emrah Kilinc ◽  
Fatma Gulay Der ◽  
Mehmet Can Sezgin ◽  
Ilayda Alcin
Keyword(s):  
Ionic Strength ◽  
Body Fluids ◽  
Extraction Time ◽  
Artificial Skin ◽  
Dialysis Membrane ◽  
Skin Model ◽  
Non Invasive ◽  
Electrode Distance ◽  
Experimental Parameters

Background: Reverse İontophoresis (RI) is one of the promising non-invasive technologies. It relies on the transition of low magnitude current through the skin and thus glucose measurement becomes possible as it is extracted from the surface during this porter current flow. Objective: This paper deals with the development and optimization of an RI determination method for glucose. CE dialysis membrane based artificial skin model was developed and the dependence of RI extraction on various experimental parameters was investigated. Method: Dependence of RI extraction performance on noble electrodes (platinum, silver, palladium, ruthenium, rhodium) was checked with CA, CV and DPV, in a wide pH and ionic strength range. Optimizations on inter-electrode distance, potential type and magnitude, extraction time, gel type, membrane MWCO, usage frequency, pretreatment, artificial body fluids were performed. Results: According to the optimized results, the inter-electrode distance was 7.0 mm and silver was the optimum noble metal. Optimum pH and ionic strength were achieved with 0.05M PBS at pH 7.4. Higher glucose yields were obtained with DPV, while CA and CV achieved almost the same levels. During CA, +0.5V achieved the highest glucose yield and higher potential even caused a decrease. Glucose levels could be monitored for 24 hours. CMC gel was the optimum collection media. Pretreated CE membrane with 12kD MWCO was the artificial skin model. Pretreatment affected the yields while its condition caused no significant difference. Except PBS solution (simulated as artificial plasma), among the various artificial simulated body fluids, intestinal juice formulation (AI) and urine formulation U2 were the optimum extraction media, respectively. Conclusion: In this study, various experimental parameters (pretereatment procedure, type and MWCO values of membranes, inter-electrode distance, electrode material, extraction medium solvents, ionic strength and pH, collection medium gel type, extraction potential type and magnitude, extraction time and etc) were optimized for the non-invasive RI determination of glucose in a CE dialysis membrane-based artificial skin model and various simulated artificial body fluids.

Determination of the thermal properties of leaves by non-invasive contact‑free laser probing

2016 ◽  
Vol 217 ◽  
pp. 100-108 ◽  
Author(s):  
J.F. Buyel ◽  
H.M. Gruchow ◽  
N. Tödter ◽  
M. Wehner
Keyword(s):  
Thermal Properties ◽  
Non Invasive ◽  
Laser Probing ◽  
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