Publications by authors named "Miruna Gug"
The COVID-19 pandemic has had a significant impact on global health, with serious outcomes, such as lung damage, being major determinants of patient morbidity and mortality. Immunization has been essential in attenuating these outcomes. This study aimed to evaluate the impact of COVID-19 vaccination on disease severity, particularly focusing on pulmonary involvement, among hospitalized patients.
View Article and Find Full Text PDF: Understanding the interactions between age and comorbidities is crucial for assessing COVID-19 mortality, particularly in patients with cardiac and pulmonary conditions. This study investigates the relationship between comorbidities and mortality outcomes in a cohort of hospitalized COVID-19 patients, emphasizing the interplay of age, cardiac, and pulmonary conditions. : We analyzed a cohort of 3005 patients hospitalized with COVID-19 between 2020 and 2022.
View Article and Find Full Text PDFThis study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities.
View Article and Find Full Text PDF: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. : 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study.
View Article and Find Full Text PDFArticle Synopsis
- Osteogenesis imperfecta (OI) is a genetic condition that causes fragile bones and has symptoms like blue sclera and hearing loss, primarily caused by mutations in COL1A1 and COL1A2 genes.
- A couple sought genetic counseling due to the man's OI diagnosis and the woman's pregnancy; whole exome sequencing (WES) was performed to identify relevant mutations.
- WES successfully detected a pathogenic mutation in the COL1A1 gene but confirmed that the fetus was not a carrier, resulting in the birth of a healthy baby and highlighting WES as a valuable tool for quickly diagnosing genetic diseases.