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Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population. This study included all consecutive patients diagnosed with FD referred to the Expert Center for Rare Genetic Cardiovascular Diseases between 2014-2023 which included 73 consecutive Romanian FD patients: 41 women (56.2%) and 32 men (43.8%) from 33 unrelated families. Women with FD were diagnosed later and had a later symptom onset. Comparing with men, women were less often symptomatic, but with similar symptom severity. They had similar ophthalmologic and ENT involvement, but less angiokeratomas. Both women and men had similar heart failure symptoms, which were usually mild to moderate, with no difference between the age of developing of the heart failure symptoms. There were also similar rates of acroparesthesia and stroke between sexes, but women presented less renal involvement, with less requirement for renal transplant. This study demonstrates that women with Fabry disease are not just carriers of the disease, they can present symptoms as severe as men, and they have less or later access to pathogenic therapy. Further studies with more female participations are needed to better understand the burden of Fabry disease in women., (© 2024 Adriana Mursă et al., published by Sciendo.)

Background and Aims: Hepatocellular carcinoma (HCC) is a significant public health issue, with an increasing incidence and prevalence and a high incidence-to-mortality ratio. The prognosis of HCC depends on two competing factors, tumor burden and underlying liver disease severity, encompassed in the Barcelona Clinic Liver Cancer (BCLC) classification. To assess HCC staging and the way staging affects eligibility for treatment at the time of the first diagnosis in Romania in the setting of opportunistic diagnosis, in the absence of a national HCC screening policy., Methods: Data regarding HCC staging, underlying liver disease, and eligibility for treatment at the time of diagnosis was analyzed using a prospectively maintained multicentric database, which included patients from the five largest tertiary care hepatology units in the country between June 2016 and February 2020., Results: A consecutive series of 477 patients was included. The distribution within BCLC classes was as follows: very early (0) 7.1%, early (A) 34.3%, intermediate (B) 19.4%, advanced (C) 14.2%, terminal (D) 24.7%. At the time of the diagnosis, 198 (41.5%) were eligible for a curative intent treatment, while 359 (75.2%) were eligible for a disease-modifying therapy. 228 patients (47.8%) had decompensated liver disease at the time of diagnosis, the most common decompensating event being ascites (78.1%)., Conclusions: A large proportion of HCC cases are diagnosed at the time of a decompensating event, severely restricting the therapeutic potential. Proactive diagnostic strategies should be implemented to improve the rate of actionable diagnosis.

Background and Aims: Gastroesophageal reflux disease (GERD) is a common condition present in daily practice with a wide range of clinical phenotypes. In this line, respiratory conditions may be associated with GERD. The Romanian Societies of Gastroenterology and Neurogastroenterology, in association with the Romanian Society of Pneumology, aimed to create a guideline regarding the epidemiology, diagnosis and treatment of respiratory conditions associated with GERD., Methods: Delphi methodology was used and eleven common working groups of experts were created. The experts reviewed the literature according to GRADE criteria and formulated 34 statements and recommendations. Consensus (>80% agreement) was reached for some of the statements after all participants voted., Results: All the statements and the literature review are presented in the paper, together with their correspondent grade of evidence and the voting results. Based on >80% voting agreement, a number of 22 recommendations were postulated regarding the diagnosis and treatment of GERD-induced respiratory symptoms. The experts considered that GERD may cause bronchial asthma and chronic cough in an important number of patients through micro-aspiration and vagal-mediated tracheobronchial reflex. GERD should be suspected in patients with asthma with suboptimal controlled or after exclusion of other causes, also in nocturnal refractory cough which needs gastroenterological investigations to confirm the diagnosis. Therapeutic test with double dose proton pump inhibitors (PPI) for 3 months is also useful. GERD induced respiratory conditions are difficult to treat; however,proton pump inhibitors and laparoscopic Nissen fundoplication are endorsed for therapy., Conclusions: This guideline could be useful for the multidisciplinary management of GERD with respiratory symptoms in current practice.

Background: The coronavirus disease 2019 (COVID-19) pandemic outbreak forced cancer care providers to face different challenges in terms of prevention and treatment management due to specific precautions implemented for oncological patients. We aimed to describe the level of knowledge, attitude and practices (KAP) among cancer patients, with the purpose to provide an image of the impact of COVID-19 and evaluate the effectiveness of pandemic response measures., Patients and Methods: We developed a cross-sectional multicentric study that targeted adults with active cancer during the COVID-19 outbreak, aiming to describe KAP related to COVID-19 among Romanian oncological patients. A questionnaire investigating 64 items on KAP related to the novel coronavirus was designed and applied in seven Romanian hospitals. The group of participants consisted of 1585 oncological patients who completed the questionnaire during the outbreak (April-May 2020)., Results: Only 172 patients (10.8%) had very good knowledge about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection symptoms, treatment options and incubation period. Only 44.3% of patients identified diarrhoea as a sign of COVID-19. About one-third of patients (32.6%) declared that they are 'very worried' about getting infected with the novel coronavirus. More than two-thirds of participants (68%) considered that having cancer represents an additional risk for infection with SARS-CoV-2, but 27.8% would rather not vaccinate against SARS-CoV-2 should a vaccine be available. A small percentage (8.8%) believed that the risk of infection justifies delaying/stopping oncological treatment until after the pandemic. Around half of the participants (55.5%) declared being compliant with all the protective measures against coronavirus infection listed in the questionnaire., Conclusion: Romanian oncological patients have a less than expected knowledge about SARS-CoV-2, appropriate prevention behaviours, with limited trust in their efficacy, optimistic attitudes towards COVID-19 and low level of trust in information sources. Good COVID-19 knowledge was associated with appropriate practices towards COVID-19 and optimistic attitudes., Competing Interests: Disclosure The authors have declared no conflicts of interest., (Copyright © 2020 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Objectives: We assessed the effect of invalid responding on factor structure and on scores of schizotypy through the factor analysis of the Schizotypal Personality Questionnaire-Brief (SPQ-B) in a sample of 580 Romanian students using 3 validity items and 5 social desirability items., Methods: We examined the factor structure of the SPQ-B, we compared the mean SPQ-B scores between reliable and unreliable responders and between high vs. low social desirability responders, and we re-run the factor analysis restricting the sample to the reliable or low social desirability responders., Results: Factor analysis resulted in a 3-factor solution: Cognitive-perceptual, Interpersonal and Disorganized dimensions. Unreliable responders had lower scores of positive, negative and total schizotypy. Subjects with high social desirability scores had lower scores of disorganized schizotypy. Factor analyses in the samples of "good" responders showed minor differences in reliable responders, whereas, after taking into account the effect of social desirability, 2 items correctly loaded on expected dimensions., Conclusions: Random responding and social desirability could influence scores of schizotypy and factor structure. Simple methods could be used to identify invalid responses. The effect of social desirability could be linked to the phrasing of items., (Copyright © 2019 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.)

Background/aims: The Internet offers a lot of non-filtered medical information which may interfere with the patient-doctor relationship. The aim of the present study was to assess the influence of the Internet on the classical doctor-patient relationship in gastroenterological outpatient settings., Materials and Methods: A multicenter study was conducted, including a representative sample selected from five major regional medical centers throughout Romania. We designed a questionnaire which had two parts. One had to be filled out by adult patients on their first visit to a gastroenterology clinic and the other by physicians, stating the diagnosis and giving a doctor-patient collaboration score., Results: From a total of 485 patients (49.9% females, mean age 50.42 years), 64.9% had Internet access, 75% out of whom searched for their symptoms online. University graduates searched for their symptoms online more often than secondary school graduates (80% vs. 31.1%, p<0.05). Most patients stated that they used the Internet to identify the most appropriate medical specialist for their condition. Internet users were less likely to visit a general practitioner (GP) before coming to a specialist (85.3% vs. 92.2%, odds ratio (OR) 0.491, 95% confidence interval (CI) 0.24-0.98, p<0.05). Patients who had searched for their symptoms online were less likely to follow the treatment prescribed by the GP (53.6% vs. 67.5%, p=0.004), but they received a better collaboration score (OR 1.12, 95% CI 1.05-1.36, p<0.05)., Conclusion: The Internet exerts a positive influence on specialist doctor-patient relationship, but it might burden the health system with the incorrect tendency to replace the role of the GP.

Adherence to medical treatment in chronic patients challenging, especially in primary prevention where the benefit is not directly perceived by the patient. Through the directed interview of this qualitative study we assessed some specific factors that intervene in beta-blockers adherence in cirrhotic patients with oesophageal varices in primary prevention in Romanian. We identified that the most important modifiable extrinsic factor that influences adherence is the confidence in medicine. The intensely negative perception of the disease seemed to be another major driver of adherence.

Purpose: PREDATORR is the first national study analyzing the prevalence of chronic kidney disease and its prognosis and association with socio-demographic, cardio-metabolic and lifestyle risk factors in the adult Romanian population., Methods: Chronic kidney disease was defined according to the KDIGO 2012 criteria as an estimated glomerular filtration rate <60 mL/min/1.73 m(2) and/or urinary albumin-to-creatinine ratio ≥30 mg/g. The socio-demographic, lifestyle and anamnestic data were collected through interviewer-administered questionnaires. Physical examination and biochemical assays were also performed., Results: This cross-sectional study conducted between December 2012 and February 2014 in Romania included 2717 adults. The overall age- and sex-adjusted prevalence of chronic kidney disease was 6.74 % (95 %CI 5.60-7.88 %), of which 3.31 % (2.50-4.13 %) had only reduced kidney function (estimated glomerular filtration rate <60 mL/min/1.73 m(2)), 2.98 % (2.21-3.76 %) had only albuminuria, and 0.45 % (0.14-0.74 %) had both. The prevalence of chronic kidney disease increased with age and was similar in women and in men. Age, hyperuricemia, impaired glucose regulation (diabetes/prediabetes), hypertriglyceridemia and a family history of renal disease were independent risk factors for the presence of chronic kidney disease., Conclusions: The PREDATORR study showed a high prevalence of chronic kidney disease in the adult Romanian population providing data on its prognosis and association with several cardio-metabolic risk factors.

Aim: to establish a therapeutic strategy that will improve the prognosis and increase the survival rate in congenital diaphragmatic hernia., Material and Method: 14 congenital diaphragmatic hernias (incidence 1/1597 live births, 12 boys and 2 girls with a sex ratio of 6/1, 10 term infants and 4 preterm first degree, 11 natural births and 3 by caesarean section) admitted to the Clinic of Pediatric Surgery Craiova, in a 5-year period (2007-2012), were analyzed from the therapeutic point of view. The "tension free" primary suture was the main surgical procedure to repair the diaphragmatic defect in all cases, preceded by a period of preoperative resuscitation and stabilization (2.8 days on average)., Results: We registered a survival rate of 64.29% and a postoperative mortality rate of 35.71%., Conclusions: delayed surgery preceded by a period of the preoperative respiratory resuscitation and stabilization (24-72 hours on average) significantly reduced postoperative mortality and increased the survival rate.

Turner syndrome (TS) is characterized by an increased prevalence of hypothyroidism, the main etiology being autoimmunity. The aim of our study was to assess the prevalence of hypothyroidism in patients with Turner syndrome, to analyze the correlations with clinical, chromosomal, hormonal and metabolic features and to compare hypothyroid with euthyroid Turner subjects. We studied 28 patients with TS (mean age 24.68 +/- 9.59yr). 78.57% with 45,XO. 10.71% with 45,XO/46,XX and 10.71% with other karyotypes. Hypothyroidism was diagnosed in 10 patients (35.7%). TSH level was positively correlated with thyroid autoantibodies titer (p < 0.001), maternal age at conception (p< 0.01), the presence of spontaneous puberty (p < 0.05) and relative height (p < 0.05), and negatively correlated with FSH level (p < 0.001) which is an indicator of the estrogenic status, and was not correlated to karyotype. Hypothyroid Turner subjects had higher relative heights (p < 0.05) and lower FSH levels (p < 0.05) than euthyroid subjects, but cholesterol levels and BMI were not significantly different.