Emilia Severin | University of Medicine and Pharmacy "Carol Davila" Bucharest (original) (raw)

Papers by Emilia Severin

ChemInform, Jun 18, 2010

ChemInform Abstract Gemäss Formelbild wird das Acetat (I) in die gesuchten Verbindungen (III)über... more ChemInform Abstract Gemäss Formelbild wird das Acetat (I) in die gesuchten Verbindungen (III)übergeführt, die Wirkung gegen Leukämiezellen der Maus besitzen. Am wirksamsten ist die Verbindung (IIIa). (UV-spektroskopische Daten).

Farmaco, Jun 1, 1998

A series of methyl and ethyl quaternary pyridiniumtetrahydrocarbazoles was synthesized and studie... more A series of methyl and ethyl quaternary pyridiniumtetrahydrocarbazoles was synthesized and studied in comparison with ellipticine, chosen as a reference. In general, their antiproliferative activity, tested in different biological substrates, appeared to be higher than that of the corresponding non-quaternarized compounds. This fact could be attributed to the introduction of a positive charge in the molecule, which can stabilize the molecular complex they form with DNA. In a prokaryotic system, the T2 bacteriophage, both quaternarized and non-quaternarized compounds inhibited its infectivity moderately, in a similar way to ellipticine. This effect seemed to be connected to a direct activity on the virions rather than on the indicator bacteria. In mammalian cells, the pyridiniumtetrahydrocarbazoles were more effective. In particular, they appeared to be very active in inhibiting DNA synthesis in Ehrlich ascites cells; some of them were as effective as ellipticine. However, pyridiniumtetrahydrocarbazoles were less active in comparison with ellipticine when their capacity for inhibiting the clonal growth in Chinese hamster ovary (CHO) cells was tested. A similar picture was obtained studying the formation of chromosome aberrations and of sister chromatid exchanges in the same cells. These different responses can be explained considering that the data on DNA synthesis reflect effects only on DNA replication within a short time, without considering any later consequences; on the contrary, in the long-term tests, other events, which lead to cell killing or genotoxicity, can take place. Pyridiniumtetrahydrocarbazoles damage DNA, inducing double-strand breaks efficiently. These observations, together with the data already obtained on unsubstituted derivatives, suggest the pyridiniumtetrahydrocarbazoles induce antiproliferative and genotoxic effects, very probably by inhibiting topoisomerase II.

The purpose of this article is to highlight the new advancements in molecular and diagnostic gene... more The purpose of this article is to highlight the new advancements in molecular and diagnostic genetic testing as well as properly classify all ovarian cancers. In this article we address statistics, histopathological classification, molecular pathways implicated in ovarian cancer, genetic screening panels and details about the genes, and also candidate genes. We hope to bring new information in the medical field as to better prevent and diagnose ovarian cancer.

Medicine and Pharmacy Reports, Jan 18, 2023

Diagnostics

Colorectal cancer (CRC) is a significant global public health concern and its characteristics in ... more Colorectal cancer (CRC) is a significant global public health concern and its characteristics in Eastern Europe are underexplored. In this retrospective study, data of 225 patients with metastatic colorectal cancer (mCRC) from the Colțea Clinical Hospital’s Oncology Department in Bucharest were analyzed between 2015 and 2023. They were divided into two groups based on the presence of KRAS mutation. The primary objective of the study was to investigate whether the presence of KRAS mutations influenced the prognosis of mCRC and to identify any demographic, clinical, or paraclinical factors associated with KRAS mutations in stage IV CRC. The overall survival for the entire study population was 29 months. There was a trend towards increased survival in the KRAS wild-type group (31 months) compared to the KRAS-mutant group (26 months), but this difference did not reach statistical significance. We found that lower levels of education, advanced T stage, advanced N stage, and M1 stage at d...

Annali dell'Istituto Superiore di Sanità, Sep 22, 2022

An entry from the Cambridge Structural Database, the world's repository for small molecule cr... more An entry from the Cambridge Structural Database, the world's repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.

Ultrasound in Obstetrics & Gynecology, 2005

Frontiers in Genetics, Nov 14, 2023

The objective of this literature review was to provide an up-to-date overview, and an analysis of... more The objective of this literature review was to provide an up-to-date overview, and an analysis of the current knowledge on narcolepsy. A systematic search was conducted in different databases to identify relevant studies on various aspects of narcolepsy. The search terms included "narcolepsy," "excessive daytime sleepiness," "cataplexy," and related terms. The search was limited to studies published up until 2022. The initial screening of studies was performed based on titles and abstracts to identify potentially relevant articles. Full-text assessment was then conducted to determine the eligibility of each study for inclusion in the review. Studies were included if they provided information on the symptoms, classification, genetic aspects, impact on daily life, and gaps in knowledge regarding narcolepsy. The review reveals several important findings regarding narcolepsy: 1. the classification of narcolepsy - Type 1 narcolepsy, previously known as narco...

Romanian Journal of Morphology and Embryology, 2022

This is an open-access article distributed under the terms of a Creative Commons Attribution-NonC... more This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited.

American Journal of Molecular Biology, 2013

DFNB1 locus has been linked to a nonsyndromic "invisible disability" called congenital sensorineu... more DFNB1 locus has been linked to a nonsyndromic "invisible disability" called congenital sensorineural hearing loss and deafness. Mutations of GJB2 and GJB6 genes are associated with deafness at the DFNB1 locus. The diagnosis of DFNB1 is made with molecular genetic testing. DNA-based testing can be used both prenatally and postnatally. Purpose: To get evidence for implementation of newborn hearing screening programs at national level; to use the molecular testing of children at risk for confirmation of diagnosis and early intervention. OAEs and ABR were performed for 4303 newborns. Audiologic evaluation of 38 children suspected of having hearing loss was performed too. Physical examinations and family history were used to get information about congenital deafness. DNA from blood samples was isolated, and two PCR multiplex assays were developed to detect DFNB1 mutations. Only 23 newborns were screened positive. Newborns were referred to audiologic evaluation, genetic counseling and testing for the etiologic diagnosis. Physical examination revealed no other abnormal findings. GJB2 mutations were detected in 36.03% of patients, and all of them have 35delG mutation. None of them was found to have GJB6 mutations. Our results suggested that molecular testing was an accurate method of early determining cause of congenital hearing loss and helped us to exclude GJB6 gene from the routine hearing screening protocol.

International Journal of Clinical Pediatrics, 2015

Background: Nowadays, molecular genetic tests provide insights into the etiologic diagnosis of he... more Background: Nowadays, molecular genetic tests provide insights into the etiologic diagnosis of hearing loss (HL). Specific gene mutations are known to cause sensorineural HL of early onset. Previously published studies showed the allelic heterogeneity of GJB2 gene as main genetic cause of isolated congenital HL. The aims of the present study were to provide an extended and updated spectrum of mutations in GJB2 gene and to identify the most prevalent mutations in the Romanian population for testing prevention strategy in people with sensorineural HL of early onset. Methods: To overcome our aims, we used clinical data from 125 unrelated persons with congenital HL and performed ARMS-PCR and DNA sequencing techniques for detection of known mutations or identification of mutations within GJB2 gene. Results: The most prevalent mutation was c.35delG found in both homozygotic and heterozygotic forms. The second mutant allele was c.71G>A (p.W24X) found in homo-or heterozygotic forms as well, followed by c.-23+1G>A and c.380G>A (p.R127H) mutations with lower frequencies. Conclusion: The study reveals the c.35delG mutation as having the highest prevalence, further highlights the genetic background of congenital HL in a local population, and supports improvement of genetic testing such as newborn and carrier screening on which to base genetic counseling services.

Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology, 1994

The activities of 6 dehydrogenases, lactate dehydrogenase (LDH), glucose-6-phosphate dehydrogenas... more The activities of 6 dehydrogenases, lactate dehydrogenase (LDH), glucose-6-phosphate dehydrogenase (G6PDH), isocitrate dehydrogenase (ICDH), glycerol-3-phosphate dehydrogenase (GDH), succinate dehydrogenase (SDH) and glutamate dehydrogenase (GLDH), determined by means of flow cytometry in 13 primary human gastrointestinal tumour cell lines, including 10 esophageal carcinomas, one gastric cancer, and 2 pancreatic cancers. Two-parametric measurements of specific dehydrogenase activities in single cells were performed with DAPI as fluorochrome for the nuclear DNA and with the fluorescent redox system of 5-cyano-2,3-ditolyl-tetrazolium chloride (CTC) which forms brilliant red formazan crystals upon reduction by cellular redox enzymes. Furthermore, with the aid of the calibration procedure reported previously [18] the enzyme activities were expressed as biochemical units. This application of tetrazolium salt technique for demonstrating dehydrogenase activities in human tumour cells by fl...

Frontiers in Pediatrics

Background and objectivesThe premature birth of a newborn can present a complex challenge for hea... more Background and objectivesThe premature birth of a newborn can present a complex challenge for healthcare providers, particularly in cases of extreme prematurity combined with intrauterine growth restriction and multiple metabolic deficiencies. In this report, we aim to shed light on the difficulties and considerations involved in the management of such a case. In addition, our study is aimed to raise awareness of the importance of a multidisciplinary team in managing an extreme premature case with multiple comorbidities.Case presentation and main findingsWe present the case of a 28-week premature female newborn with very low birth weight (660 g, percentile <10%) and intrauterine growth restriction. She was born through emergency cesarean delivery due to maternal Hemolysis, Elevated Liver enzymes, and Low Platelet count (HELLP) syndrome and had a high-risk pregnancy (spontaneous twin pregnancy, with one fetus stopping development at 16 weeks and maternal hypertension). In the firs...

Children

Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on inte... more Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult healthcare has been acknowledged for over a decade, yet it continues to be a last-minute concern. Currently, there is no established consensus on how to evaluate the effectiveness of the transition process. Our study aimed to identify how well patients are prepared for the transition and to determine their needs. We conducted a descriptive, cross-sectional study on 15 patients aged 14 to 21 years. The patients completed a sociodemographic and a Transition Readiness Assessment Questionnaire (TRAQ). We also analyzed the comorbidities of these patients. Our study revealed that only 46.7% of the patients had engaged in a conversation with a medical professional, namely, a child neurologist, about transitioning. A total of 60% of the particip...

Frontiers in Hematology

Beta-thalassemia is a well-known blood genetic disorder inherited in an autosomal recessive manne... more Beta-thalassemia is a well-known blood genetic disorder inherited in an autosomal recessive manner. Beta-thalassemia is found everywhere in the world as a rare, relatively rare, or common disease depending on the ethnic population. Affected individuals have chronic anemia associated with delayed growth, pale skin, weakness, fatigue, and more serious complications resulting in early death. Those with the severe form need frequent lifelong transfusions and depend on blood donations to survive. This literature mini-review highlights the healthcare needs that are not optimally met by people living with beta-thalassemia. The needs-led research can help to improve clinical outcomes through more appropriate management of the disease, increase provider satisfaction, and reduce the cost of care.