Acta medica Lituanica https://www.journals.vu.lt/AML <p>Acta Medica Lituanica is the peer-reviewed scholarly journal published by Vilnius University in collaboration with the Lithuanian Academy of Sciences and the National Cancer Institute. It publishes papers on high quality research, mostly from Lithuania, the Baltic countries, and Eastern Europe.</p> Vilniaus universiteto leidykla / Vilnius University Press en-US Acta medica Lituanica 1392-0138 Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy – a Case Report https://www.journals.vu.lt/AML/article/view/22343 <p><strong>&nbsp;Background.</strong>&nbsp;Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (<em>JUP</em>,&nbsp;<em>DSP</em>,&nbsp;<em>PKP2</em>,&nbsp;<em>DSG2</em>,&nbsp;<em>DSC2)&nbsp;</em>and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes.<br><strong>Case report.</strong>&nbsp;Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant<em>&nbsp;in DSC2</em>&nbsp;gene and variant of uncertain significance in&nbsp;<em>RYR2</em>&nbsp;gene.<br><strong>Conclusions.</strong>&nbsp;Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested.</p> Dovilė Gabartaitė Dovilė Jančauskaitė Violeta Mikštienė Eglė Preikšaitienė Rimvydas Norvilas Nomeda Valevičienė Germanas Marinskis Audrius Aidietis Jūratė Barysienė Copyright (c) 2021 Authors http://creativecommons.org/licenses/by/4.0 2021-01-18 2021-01-18 28 1 1 1 10.15388/Amed.2020.28.1.1 SARS-CoV-2 Seroprevalence in Lithuania: Results of National Population Survey https://www.journals.vu.lt/AML/article/view/22344 <p><strong>Background</strong>. Betacoronavirus SARS-CoV-2 has spread in early 2020 worldwide just in several months. The official statistics are consistently collected, but this is mainly based on symptomatic reports. This study was aimed to estimate the seroprevalence of SARS-CoV-2 infection in Lithuanian population.<br><strong>Materials and methods</strong>. Study was conducted during August–September 2020 in 6 municipalities of Lithuania. The sample comprised 3087 adult participants from the general population (mean age 53.7 years, 64% female). SARS-CoV-2 antibodies were assessed using AMP IgM/IgG Rapid Test, other data were based on self-report. Seroprevalence was assessed as a crude estimate and as adjusted by sensitivity-specificity of the test.<br><strong>Results.</strong>&nbsp;The crude seroprevalence in the total sample was 1.9%, the adjusted – 1.4%, ranging from 0.8% to 2.4% across municipalities. Among seroprevalent cases, 67.2% had IgG, 29.3% had IgM, and 3.5% had both IgG and IgM. An increased risk for seropositive test was observed among people who reported having had close contacts with SARS-CoV-2 positives (OR=5.49, p&lt;0.001). At the borderline significance were female gender (OR=1.75, p=0.082) and non-smoking status (OR=2.95, p=0.072). Among the seropositive participants, 69.0% reported having had no COVID-19 symptoms since 1 March 2020, while 31.0% reported having had at least one of the symptoms.<br><strong>Conclusions.&nbsp;</strong>The SARS-CoV-2 seroprevalence in Lithuanian sample in August–September 2020 was 1.4%, ranging from 0.8% to 2.4% across municipalities. Given the overall official data, by the end of study (11 September 2020) the total COVID-19 rate in Lithuania was 117.5 per 100,000 population or 0.12%. This suggests more than 10 times higher prevalence of virus across the population than the official estimates.</p> Kastytis Šmigelskas Kęstutis Petrikonis Vytautas Kasiulevičius Ramunė Kalėdienė Audronė Jakaitienė Snieguolė Kaselienė Skirmantė Sauliūnė Aušra Beržanskytė Mindaugas Stankūnas Copyright (c) 2021 Authors http://creativecommons.org/licenses/by/4.0 2021-01-18 2021-01-18 28 1 2 2 10.15388/Amed.2020.28.1.2 Depressive Symptoms, Help-Seeking, and Barriers to Mental Healthcare Among Healthcare Professionals in Lithuania https://www.journals.vu.lt/AML/article/view/22351 <p xml:lang="en-GB"><strong>Background:&nbsp;</strong>Previous research suggests that healthcare professionals (HCPs) experience high levels of work-related psychological distress, including depressive symptoms. Due to the stigma of mental health problems and other barriers, HCPs are likely to be hesitant to seek appropriate mental healthcare. We aimed to explore these phenomena among HCPs in Lithuania.<br><strong>Methods:&nbsp;</strong>A web survey inquiring about depressive symptoms, help-seeking, and barriers to mental healthcare was conducted. Depressive symptoms were measured using the Patient Health Questionnaire-9 (PHQ-9). 601 complete questionnaires were included in the analyses. The barriers to help-seeking were identified using the inductive content analysis approach. Descriptive, non-parametric, and robust statistical analysis was performed using SPSS software.<br><strong>Results:&nbsp;</strong>Most<strong>&nbsp;</strong>of the respondents have reported depression-like symptoms over the lifetime, although only about a third of them sought professional help. Of those, roughly half preferred a private specialist. The stigma and neglect of mental health problems were the most common barriers to help-seeking. Around half of the HCPs believed that seeking mental healthcare can imperil their occupational license.&nbsp;About a quarter of the HCPs screened positive for clinically relevant depressive symptoms. Statistically significant differences in the PHQ-9 score were found between categories of healthcare specialty, marital status, religious beliefs, workplace, and years of work as a HCP. Fewer years of work and younger age were associated with the higher PHQ-9 score.<br><strong>Conclusions:&nbsp;</strong>Our findings suggest that HCPs in Lithuania may be inclined not to seek appropriate mental healthcare and experience poor mental health, although stronger evidence is needed to verify these findings.&nbsp;</p> Daniel Rogoža Robertas Strumila Eglė Klivickaitė Edgaras Diržius Neringa Čėnaitė Copyright (c) 2021 Authors http://creativecommons.org/licenses/by/4.0 2021-01-19 2021-01-19 28 1 3 3 10.15388/Amed.2020.28.1.3 Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms https://www.journals.vu.lt/AML/article/view/22364 <p><strong>Background:&nbsp;</strong>In Huntington’s disease psychiatric symptoms may manifest prior to motor dysfunction. Such symptoms negatively impact people’s quality of life and can worsen the course of the primary disease. The aim of the present study was to assess and compare depression, anxiety and hopelessness rates in individuals with and without an abnormal expansion of CAG repeats in the huntingtin (HTT) gene and healthy controls.<br><strong>Materials and methods:&nbsp;</strong>Study involved 31 individuals referred for genetic testing for Huntington’s disease and a control group of 41. Depressive and anxiety symptoms were assessed using Beck Hopelessness Scale (BHS) and Hospital Anxiety and Depression Scale (HADS). Results between groups were compared using the Mann–Whitney U test. Two-sided Bonferroni corrected p-value was set at ≤0.017.<br><strong>Results:&nbsp;</strong>Individuals with HTT gene mutation (“gene mutation positive”, GMP) (N=20) scored higher on the HADS depression subscale (5.90 ± 4.52 vs 1.36 ± 1.91; p ≤ 0.017) than those without HTT gene mutation (“gene mutation negative”, GMN) (N=11). GMP and control groups scored higher than the GMN group on the BHS (5.65 ± 3.91 vs 2.09 ± 1.64 and 5.27 ± 4.11 vs 2.09 ± 1.64, respectively; p ≤ 0.017). No differences in anxiety levels were found.<br><strong>Conclusions:&nbsp;</strong>Depressive symptoms and hopelessness were more prevalent in individuals with HTT gene mutation than in individuals who were tested but had no said mutation. Such results emphasise the importance of timely diagnosis and treatment of psychiatric comorbidities in individuals affected by Huntington’s disease.</p> Adelė Butėnaitė Robertas Strumila Aistė Lengvenytė Indrė Kotryna Pakutkaitė Aušra Morkūnienė Aušra Matulevičienė Edgaras Dlugauskas Algirdas Utkus Copyright (c) 2021 Authors http://creativecommons.org/licenses/by/4.0 2021-01-21 2021-01-21 28 1 4 4 10.15388/Amed.2020.28.1.4 Pneumocystis Jirovecii Pneumonia in a Kidney Transplant Recipient 13 Months after Transplantation: A Case Report and Literature Review https://www.journals.vu.lt/AML/article/view/22376 <p><strong>Background</strong>.<em>&nbsp;Pneumocystis jirovecii</em>&nbsp;pneumonia (PCP) is an opportunistic and prevalent fungal infection in immunocompromised hosts, including patients after kidney transplantation (KTx). It is a life threatening infection. While with effective prophylaxis it became less common, it still remains an issue among solid organ transplant (SOT) recipients during the first year. There are no specific clinical signs for PCP. Computed tomography (CT) is a better method for detecting PCP, but definite diagnosis can only be made by identification of the microorganism either by a microscopy or by a polymerase chain reaction (PCR).<br><strong>Clinical case.</strong><em>&nbsp;</em>We present a case of a 17 year old with severe PCP 13 months after KTx followed by reduction in kidney function and respiratory compromise. The pathogen was detected by PCR from bronchoalveolar lavage fluid (BALF) and patient was treated successfully with trimethoprim-sulfamethoxazole (TMP-SMX). Patient’s condition, respiratory status and kidney function gradually improved. Our presented case is unusual because patient had no known risk factors for PCP and he was more than one year after KTx, what is considered rare. In addition patient and his parents delayed in notifying the treating physician about ongoing symptoms because did not deem them important enough.<br><strong>Conclusions.</strong><em>&nbsp;</em>Clinicians treating patients in risk groups for PCP must always remain vigilant even in era of effective prophylaxis. The vigilance should also extend to the patient and patient’s family.</p> Dominykas Varnas Augustina Jankauskienė Copyright (c) 2021 Authors http://creativecommons.org/licenses/by/4.0 2021-01-25 2021-01-25 28 1 5 5 10.15388/Amed.2020.28.1.5