Методы пренатальной диагностики: QF-PCR, Кариотип, FISH, NIFTY

Centrul Medical „Repromed”Contemporary cytogenetic and molecular genetic technologies offer a solid basis for an accurate and early diagnosis of genetic diseases. Because of the rapid progress in both areas, the prenatal diagnosis became an efficient instrument both for medical geneticists and gynecologists. The development of complex techniques of prenatal molecular diagnosis has produced a real burst of information, which requires an appropriate interpretation and application by the clinician for the benefit of the patient. Our purpose is to make a brief analysis of the classical and newest methods of prenatal genetic diagnosis and to evaluate the risks and benefits of each method both for pregnant and fetus.Современная цитогенетика совместно с прогрессом молекулярно-генетических технологий проложили путь к более точному и значительно более раннему диагностированию генетических заболеваний, которые сделали пренатальную диагностику весьма эффективным инструментом для врача гинеколога и генетика. Разработка более сложных молекулярных методов пренатальной диагностики привела к взрыву информации, которая должна быть применена врачами для блага пациентов. С помощью этой статьи мы хотим сделать краткий анализ классических и новейших методов для пренатальной диагностики генетических заболеваний, взвесить пользу и риск каждого метода как для беременной, так и для плода

New science on the Open Science Grid

The Open Science Grid (OSG) includes work to enable new science, new scientists, and new modalities in support of computationally based research. There are frequently significant sociological and organizational changes required in transformation from the existing to the new. OSG leverages its deliverables to the large-scale physics experiment member communities to benefit new communities at all scales through activities in education, engagement, and the distributed facility. This paper gives both a brief general description and specific examples of new science enabled on the OSG. More information is available at the OSG web site: www.opensciencegrid.org

Методы пренатального генетического скрининга. Двойной, тройной и четверной тесты

Centrul Medical „Repromed”Antenatal screening of hereditary diseases and congenital malformations during the first and second trimester of pregnancy is an important tool for the evaluation of the intrauterine fetal condition. Special attention is paid to the principles of antenatal screening organization, echographic markers, and biochemical methods of fetal development assessment. Antenatal genetic screening includes fetal ultrasound and biochemical screening (estimation of certain plasmatic markers, which fluctuate in cases of certain fetal diseases). There are several types of screening (depending on the number of performed biochemical tests): double test (combined test), triple test, and quadruple test. Screening tests are not pretending to be the source of the final diagnosis. They rather give a possibility to identify the group of pregnant with an increased risk of certain fetal pathologies, which require specific diagnostic methods. The current recommendations are presented for general practitioners, gynecologists, specialists in genetics, and patients.Пренатальный скрининг наследственных и врожденных заболеваний в первом и втором триместре беременности способствует получению дополнительной информации относительно здоровья плода. Особое внимание уделено принципам организации пренатального скрининга, ультразвуковым маркерам и биохимическим методам диагностики развития плода. Пренатальный генетический скрининг включает в себя ультразвуковой и биохимический скрининг, то есть определение серологических маркеров, изменяющихся при некоторых патологиях. Есть несколько типов скрининга: двойной тест (комбинированный тест), тройной тест и четверной тест – в зависимости от количества биохимических показателей. Скрининговые тесты предназначены не для окончательного диагноза, а для выявления беременных женщин, имеющих высокий риск при некоторых патологиях плода, которым рекомендуется диагностические исследования. Статья содержит рекомендации как для семейных врачей, гинекологов и генетиков, так и для пациентов

Experimental study on viscosity and isobaric heat capacity of PEG 400 enhanced with TiO2 nanoparticles

In the last years, a lot of research is committed to developing new heat transfer fluids for medium to high temperatures applications. This experimental analysis is dedicated to a less studied fluid, PEG 400 enhanced with titanium oxide nanoparticles, and started with suspensions manufacturing, morphology analysis and a strong discussion on viscosity, rheological behavior and isobaric heat capacity. Precisely, five suspensions of up to 2.5 %wt. TiO2 were analyzed through the entire experimental in terms of their behavior at ambient temperature and heating. Plus, viscosity was checked for possible hysteresis and the experimental revealed that this is almost absent for these nanocolloids, which is favorable for heat transfer applications, especially in heat exchange. The rheological tests revealed a non-Newtonian comportment for all of the samples, comportment that is more obvious when nanoparticles concentration increases. In terms of viscosity outputs, a normal fluidic behavior was noticed at heating, while the viscosity upsurges between 8 and 36 %, depending on nanoparticle concentration. Isobaric heat capacity tests demonstrated a decrease of up to 6.3 % for higher loaded nanocolloids and a relatively small variation with temperature, which is, somehow, in line with state of the art. As a conclusion, it may affirm that nanocolloids based on PEG 400 and oxides can be a good alternative for heat exchange applications