Aims:Tuberous sclerosis complex is a genetic disorder characterized by mutations in Tuberous Sclerosis Complex 1 (* 605284) or Tuberous Sclerosis Complex 2 (* 191092) genes. PALB2 (* 610355) gene has long been known to be associated with increased breast and pancreatic cancer risk. Its association with risk of stomach and lung cancers has also been established recently. In this case report, it is aimed to present a case of a 24-year-old female patient, who has been diagnosed with both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation at the same time. Case Report:A 24-year-old female patient was admitted to Trakya University Genetic Diseases Center with suspected tuberous sclerosis complex. Her primary complaints were a continuous headache and fatigue. She had no history of convulsion and seizure. There were bilateral facial angiofibromas around her nose. When genomic DNA was isolated, both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation were observed.Conclusion: This case report shows that in cancer predisposing syndromes, Next-generation sequencing is a powerful technique to portrait a detailed genetic profile of patient, investigating for any mosaicism or other risk alleles.
Aims: The aim of this study is to evaluate hepatitis B virus serological status and to categorize the risks of our treatment modalities in patients with both benign and malignant hematological disorders. Methods: This was a retrospective study of 552 patients who were admitted to the Trakya University Hospital Hematology unit between 01.01.2017 and 31.12.2017. All data regarding the diagnosis, treatment and HBV serological status were collected from patient files. Data were analyzed with IBM SPSS V.20 using descriptive statistical analysis. Results: Hepatitis B surface antigen was positive in 45 (8.2%) patients, antibody to the hepatitis B surface antigen was positive in 279 (50.5%) patients and antibody to the hepatitis B core antigen was positive in 247 (44.7%) patients. According to these results, 32 patients were found to be vaccinated for hepatitis B virus. Reactivation was observed in 4 (0.7%) patients who have been hepatitis B surface antigen positive and have received adequate duration of antiviral prophylaxis with tenofovir. These 4 patients have received monoclonal antibody for immunosuppressive treatment. Conclusion: To conclude, although the rate of hepatitis B surface antigen reactivation is quite low, as many patients as possible should be vaccinated to reduce the costs of antiviral treatments and monitorization. If there is no time to vaccinate, patients should be categorized according to guidelines by their hepatitis B surface antigen serological status and by the planned immunosuppressive treatments.
Aims: The aim of this study is to evaluate the knowledge of signs and symptoms of spondyloarthritis among family physicians working in Family Health Centers in Edirne. Methods: In this study, a questionnaire consisting of 17 questions were applied to the family physicians working in the Family Health Centers of Edirne Province. The data were analyzed using non-parametric Spearman Correlation test and Mann-Whitney U test on IBM SPSS version 20.0. Results: The total number of subjects in the study was 45. All subjects' median age was 47 years (1st quartile, 42 years; 3rd quartile, 51 years). Five of the participants were family medicine specialist. The median duration of medical practice was 20 years (1st quartile, 13 years; 3rd quartile, 25.5 years). Four of the participants were trained in rheumatology. The median number of patients examined by the participants was 60 per day (1st quartile, 47.5; 3rd quartile, 70). Forty-one of the participants stated that they referred patients with back pain to the hospital for further examination. The median number of referral percentage was 15 (1st quartile, 5; 3rd quartile, 25). Conclusion: Spondyloarthritis is a disease that is diagnosed too late and reduces patients' quality of life. In this study, it was investigated which factors could be related to spondyloarthritis awareness of family physicians in a limited area. The most important output of this is study is the relation between referrals to rheumatology and awareness of spondyloarthritis. These parameters are related to each other and the physician.
Aims: This study aims to evaluate medical students' knowledge, thoughts, and awareness of the COVID-19 pandemic. Methods: A questionnaire consisting of 31 questions was prepared for this descriptive study. In the questionnaire, medical students' knowledge, attitudes and behaviors during the COVID-19 pandemic were investigated. Categorical variables are demonstrated as numbers and percentages, whereas continuous variables are presented as minimum, maximum, and mean values. Results: A total of 575 participants completed the questionnaire. The mean participant age was 21.7 years. Fifty-two percent of participants knew about the coronaviridae family before the outbreak and 38.8% were informed about COVID-19 in their medical schools. Of the students, 99.7% stated that the first case's origin was in China. Eighty percent of the participants stated that droplet spread is the transmission route of COVID-19. The most common opinion about the incubation period of the SARS CoV-2 was two to twelve days. Being older than 65 years old, having a comorbidity, being immunosuppressed, or working in the healthcare sector were the most particular risk factors to get infected. The majority of the participants follow the vaccine developments from social media, radio and television. According to 75.83% of the participants, all people should wear a mask in daily life for protection. Conclusion:The epidemiology and diagnostic factors of COVID-19 are well known by medical students. To minimize information pollution and raise awareness, medical students should be educated about pandemic and management of it. Further evaluation with various methods and more participants may help to better understand the awareness of the COVID-19 pandemic in medical students.
Aims:This study aims to evaluate the effect of open inguinal hernia repair with mesh on the quality of life of the patients who were operated at a university hospital. Methods: In this cohort study, 86 patients who had undergone an open inguinal hernia repair at General Surgery Department in a university hospital between January 2017 and October 2019 were asked to fill out the Carolinas Comfort Scale questionnaire and the data were analyzed retrospectively. Results: The total number of patients in the study was 86. Seventy-three were male (84%) and 13 were female (16%). The median age was 53 years ranging from 18 to 82. The difference of pre-and post-operative scores revealed high significance in all categories and in total; laying down, bending over, sitting up, performing activities of daily life, coughing or deep breathing, walking or standing, walking up or down the stairs, exercising and total score. Conclusion: Inguinal hernia decreases the quality of daily life by limiting the movements with groin pain. Surgical low-tension repair with mesh improves the quality of life significantly.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.