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BACKGROUND Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical characteristics of the Fabry patients in Romania. METHODS All known Fabry patients in Romania between 2015-2018 were prospectively included in the study. Data on personal history, family history and clinical parameters were collected and statistically analyzed. RESULTS The study included 42 patients with a mean age of 47±15 years, of which 19 (45%) were men and 23 (55%) women. Women were significantly older (52±15 years vs. 40±13 years, p=0.006) and presented similar prevalence of cardiac, renal, neurologic, ophthalmologic and otologic burden. The majority of patients presented organ damage, most prevalent being cardiac (48%), cutaneous (45%) and neurologic (52%) involvements. There were 20 families in total, comprising on average of 2.1 members each. Of the 20 families, only two had the same pathogenic GLA mutation. CONCLUSION FD patients in our country show a significant degree of multiorgan involvement with important psychological and social impact on the patients and their families. Women with Fabry disease show similar disease burden as men, but at a later age. Copyright © 2019, Medical University Publishing House Craiova.Two of the most common UV-induced eye affections are pterygium and cataract. They are both defined as progressive diseases that impair patients' vision and share some common elements in their evolution process. The purpose of this study was to determine whether the presence of cataract influences the clinical signs and symptoms of patients with pterygium. Therefore, we have analyzed 84 patients with pterygium, among which 23 also presented cataract, as an overall study lot, as well as divided by age decades. We have determined that almost all patients with both pterygium and cataract declared extensive UV exposure in antecedents and have also reported a blurred vision. We found no correlation between the presence of cataract and the size of pterygium lesions, or symptoms like foreign body sensation, tearing or symblepharon. Copyright © 2019, Medical University Publishing House Craiova.Non-alcoholic fatty liver disease (NAFLD) is currently the most common liver disease that progressively develops in four stages (steatosis, non-alcoholic steatohepatitis-NASH, fibrosis, cirrhosis). In order to accurately evaluate the amount of fat content inside the hepatocytes, non-invasive imaging studies such as magnetic resonance spectroscopy (MRS) of the liver can be used as an alternative method to the traditional invasive liver biopsy. The main objective of our study was to quantitatively assess hepatic steatosis before and after treatment using liver MRS. The study group included 35 patients diagnosed with NAFLD who freely expressed their agreement to take part in this study. The treatment lasted 6 months and consisted of administering a local commercially available liver protection supplement combined with dietary and lifestyle adjustments. The initial quantitative assessment of the liver fat content using MRS revealed a hepatic lipid accumulation ranging from 15.70% to 68.03%, with a mean value of 41.26%. The subsequent liver MRS performed after 6 months of proper treatment indicated a fat content inside the liver parenchyma ranging from 15.47% to 58.98%, with a mean value of 36.07%. The therapeutic measures that were applied to the patients managed to reduce the amount of fat content inside the liver parenchyma in 24 patients (68.57%), while in 11 patients (31.43%) the results revealed an increase in hepatic lipid content. In conclusion, the current study reached its initial objective and offered a modern approach regarding the pre and post-treatment evaluation of hepatic steatosis using MRS. Copyright © 2019, Medical University Publishing House Craiova.High blood pressure is the most common cardiovascular disease and the first one due to mortality risk. learn more Prospective studies showed that, until 2025, the number of individuals with HBP will increase up to 1.56 billion in adults, of which more than two thirds will be found in poor countries or developing ones. In the present study, we evaluated the clinical and epidemiological aspects of HBP in a group of 3050 patients admitted in the Department of Cardiology of the Public Hospital of Caracal, Olt county. The study on the distribution of patients according to sex allowed us to observe that most patients suffering from HBP were women, while the distribution according to the social environment showed that more than 2/3 of high blood pressure patients came from the rural area. By studying the distribution of patients according to age, we observed that most HBP patients were aged over 60 years old (86.49%). Copyright © 2019, Medical University Publishing House Craiova.[This corrects the article DOI 10.1093/eep/dvz023.][This corrects the article DOI 10.1093/eep/dvz023.]. © The Author(s) 2020. Published by Oxford University Press.Herpesviruses (HVs, Family Herpesviridae) have large genomes that encode hundreds of proteins. Apart from amino acid mutations, protein domain acquisitions, duplications and losses are also common modes of evolution. HV domain repertoires differ across species, and only a core set is shared among all species, aspect that raises a question How have HV domain repertoires diverged while keeping some similarities? To answer such question, we used profile Hidden Markov Models (HMMs) to search for domains in all possible translated open reading frames (ORFs) of fully sequenced HV genomes. With at least 274 domains being identified, we built a matrix of domain counts per species, and applied a parsimony method to reconstruct the ancestral states of these domains along the HV phylogeny. It revealed events of domain gain, duplication, and loss over more than 400 millions of years, where Alpha-, Beta-, and GammaHVs expanded and condensed their domain repertoires at distinct rates. Most of the acquired domains perform 'Modulation and Control', 'Envelope', or 'Auxiliary' functions, categories that showed high flexibility (number of domains) and redundancy (number of copies).
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