Neurological and Dermatological Manifestations of Tuberous Sclerosis Complex: Report from a Romanian Tertiary Hospital Cohort.

Tuberous sclerosis complex is a rare multisystem genetic disorder characterized by multiorgan involvement, frequently associated with intellectual impairment and epilepsy. The aim of our study was to describe the neurological and dermatological manifestations of TSC in 32 adult patients (of whom 19 were females) who attended the Neurology and Nephrology Clinics of Fundeni Clinical Institute in Romania from 2015 to 2020. Seventeen patients were diagnosed with epilepsy, nine patients had intellectual impairment, and complete neuroimaging was available for twenty-two patients. As expected, the most frequent dermatological lesions were cutaneous angiofibromas in 20 patients, but with a lower frequency than described in the current literature. Statistical analysis was performed considering the small number of patients. Cortical tubers in neuroimaging seemed to be associated with the diagnosis of epilepsy, while subependymal nodules represented a risk factor for intellectual impairment. Males showed a larger number of dermatological types of lesions, especially café -au-lait patches. Interestingly, we found a statistically significant positive association between epilepsy and the presence of cutaneous angiofibromas, as well as total dermatological involvement. Females had significantly higher Charlson comorbidity index scores, indicating a higher burden of disease. Everolimus seemed to be a well-tolerated treatment and showed promising results in controlling epileptic seizures alone in two patients. More studies, with the inclusion of a larger number of patients, are needed to confirm these results.

Anxiety, Perceived Stress, and Resilience during the COVID-19 Pandemic: Population Estimates of Persons Presenting to a General Practitioner in Romania.

Facing the COVID-19 pandemic, individuals are experiencing severe mental distress. Thus, during the last year, drastic changes occurred in everyday life of every human being. Following social distancing and economic insecurity, significant increases in mental health concerns (loneliness, anxiety, depression, or insomnia) have developed. The objective of this study was to explore the anxiety, perceived stress, and resilience in a population presenting at the general practitioner, during the COVID-19 pandemic. Data were collected between February and April 2021 and 440 individuals who presented to the general practitioner were evaluated. Concerning anxiety level, almost half of the respondents (49,3%, N = 217) scored above the threshold value on the anxiety scale (mild intensity 38.6%, moderate intensity 9.9%, severe intensity 0.8%). Having a low level of resilience, as well as experiencing a high level of stress, are both predictive of the occurrence of high anxiety (p < 0.001, r = -0.551 and p < 0.001, r = 0.622, respectively). Furthermore, resilience is negatively related to perceived stress (p < 0.001, r = -0.676). It is critical in the current crisis to recognize those at risk of developing mental illnesses, taking into consideration the various socioeconomic classes, as well as to maintain and improve the general public's mental health using appropriate psychological interventions.

Self-reported oral health-related habits, attitudes and knowledge in adults from Portugal, Romania and Sweden-A comparative study.

OBJECTIVE: The aim of the present study was to compare the self-reported oral health knowledge, habits and attitudes of adults in Portugal, Romania and Sweden, each benefitting from a different oral health system. METHODS: A cross-sectional study was conducted on 1081 adults in the three countries, using an adapted version of the WHO oral health questionnaire. This survey took place between November 2015 and June 2016. RESULTS: The mean age of the respondents was 46.85 with 95% CI (45.84, 47.86). Over 85% of the Portuguese and the Swedish, but only 55% of the Romanians, reported having 20 or more teeth left (P < 0.001). Most Swedes visit the dental office regularly, but only 50.5% of the Portuguese and 20.6% of the Romanians do so (P < 0.001). Interdental cleaning aids and fluoridated toothpaste were used the most in Sweden and the least in Romania. Daily consumption of sweets was lowest for Portugal and highest for Romania (P < 0.001), and daily intake of fresh fruits and vegetables was lowest for Sweden (P < 0.001). CONCLUSIONS: There is a difference between the three countries regarding oral health, diet, dental attendance and oral health-related quality of life, with Romania being in most need of improvement in these areas. The differences could be explained by the distinct healthcare systems adopted by the countries.

Disability status and dental pathology in multiple sclerosis patients.

OBJECTIVE: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) leading to demyelination and neurodegeneration. The disease is plurifactorial, it being assumed that it is caused by an interaction between genes and the environment. Authors aimed to: (1) achieve better understanding of MS evolution; (2) identify, if any, significant associations between dental pathology and the clinical course of the disease in MS patients. METHOD: We performed a cross-sectional study on a group of 33 MS patients treated with immunomodulatory drugs (64% women and 36% men, with a mean age of 39.97 years). The data obtained from the medical records, through neurological assessment, oral and dental evaluation and the information collected by means of a questionnaire were grouped in: (1) items related to MS, (2) items related to dental health and (3) items regarding socio-demographic information. RESULTS: In our sample, disability status was significantly correlated to the number of relapses that occurred during the last year of disease and the total number of relapses. The immunomodulatory treatment significantly reduces the number of relapses in the first year of treatment, then the disease stabilizes. The disability level was highly dependent on the number of relapses that occurred in the most recent period of time. A percentage of 67.9% of the patients reported gingival bleeding. However, the bleeding was not significantly associated with the number of relapses from the last year, the degree of disability (EDSS) or type of immunomodulatory treatment. The only significant difference was identified between the EDSS scores and the presence/absence of dental amalgam fillings but the sample was too small to interpret this result. CONCLUSION: The study did not provide conclusive evidence regarding the association between amalgam restorations, periodontal disease and MS disability.

Hepatitis B virus core promoter mutations in patients with chronic hepatitis B and hepatocellular carcinoma in bucharest, romania.

BACKGROUND: Accurate and personalized molecular virological diagnosis of hepatitis B virus (HBV) infection is crucial for individualized selection of patients for antiviral therapy in Romania. OBJECTIVES: We aimed to investigate HBV mutations in Romanian patients with chronic HBV infection, also to match HBV genotypes with HBV mutations identified and clinical outcomes. PATIENTS AND METHODS: This was a cross-sectional study. A total of 484 Romanian patients with chronic HBV infection and hepatocellular carcinoma (HCC) were investigated. This was performed in Fundeni Clinical Institute, Bucharest, Romania during January 2005 to August 2010. HBsAg positive patients with chronic HBV infection admitted to Fundeni Clinical Institute were randomly enrolled in the study. Analysis was performed in the Centre for Immunogenetics and Virology, Fundeni Clinical Institute, Bucharest, Romania. Indirect diagnosis was performed with enhanced chemiluminescence method using Architect i2000SR and HBV-DNA was quantified with COBAS TaqMan HBV PCR. Direct sequencing of the PCR-products was performed with the PCR-product sequencing kit. HBV genotyping was performed with INNO-LiPA DR Amplification and INNO-LiPA HBV precore-core. RESULTS: We detected two HBV genotypes; A (8.1%) and D (60.5%), and a mixture of genotypes A and D (31.4%) (P < 0.001). Basal core promoter (BCP) A1762T/G1764A and precore (PC) G1896A mutations were detected in these Romanian patients with chronic HBV infection. HBV chronic carriers had mainly genotype D (54.4%) and HBV WT (64.0%). BCP A1762T, G1764A and PC G1896A were significantly associated with HCC-tissue HBV sequencing (75.3%) (P < 0.001). PC G1896A alone was detected in HCC-serum HBV sequencing group (66.7%). CONCLUSIONS: Genotype D was the main genotype detected in Romanian patients with chronic HBV infection. Genotype D presented both BCP and PC mutations more frequently.