Acta medica Lituanica 2021-04-07T09:23:32+00:00 Rimantas Jankauskas Open Journal Systems <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> Evaluation of TGF-β1 and EGFR in Cleft Affected Lip Mucosa 2021-03-26T09:23:02+00:00 Olga Rimdenoka Māra Pilmane <p><strong>Background.&nbsp;</strong>The morphopathogenesis of orofacial cleft development is only partly understood; therefore, it is important to identify factors, which possibly could be involved in it. The aim of the study was to evaluate the distribution of TGF-β1 and EGFR-containing cells in cleft affected lip mucosa.<br><strong>Materials and Methods.</strong><em>&nbsp;</em>The study group included lip mucosa tissue samples from 14 patients with orofacial cleft. The control group contained 11 healthy oral mucosa tissue samples. The tissue sections were stained by immunohistochemistry for TGF-β1 and EGFR. The expression of positive structures was graded semiquantitatively. IBM SPSS 26.0 was used for statistical analysis, Spearman`s rank correlation and Mann-Whitney U tests were performed.<br><strong>Results.</strong><em>&nbsp;</em>Mostly few to moderate number (+/++) of TGF-β1-containing cells was found in epithelium, also the same number of fibroblasts and macrophages was seen in the&nbsp;<em>lamina propria</em>&nbsp;of cleft affected lip mucosa. Meanwhile, healthy oral mucosa on average demonstrated a moderate number (++) of TGF-β1-containing epithelial cells, fibroblasts, and macrophages. A variable, mostly indistinct number of EGFR-containing cells was seen in the epithelium of cleft affected lip mucosa, meanwhile, mostly no (0) EGFR positive cells were found in the epithelium of healthy mucosa. Statistically significantly less TGF-β1-containing cells were found in the epithelium of cleft affected lip mucosa than in the healthy mucosa (U=33.000; p=0.015). Also, the&nbsp;<em>lamina propria</em>&nbsp;of cleft affected lip mucosa showed statistically significantly less TGF-β1 immunoreactive fibroblasts and macrophages than the healthy mucosa (U=28.500; p=0.006).<br><strong>Conclusions.&nbsp;</strong>The decreased number of TGF-β1-containing epithelial cells, fibroblasts and macrophages in cleft affected lip mucosa proves the role of problematic tissue remodelation in the cleft pathogenesis. The distribution of EGFR in cleft affected and healthy mucosa is similar and possibly does not play a role in the cleft development of humans.</p> 2021-03-25T11:54:10+00:00 Copyright (c) 2021 Olga Rimdenoka | Māra Pilmane Common Options and Overlooked Alternative for Drainage of Inaccessible Presacral Abscess: A Case Report 2021-03-16T09:22:36+00:00 Evelina Kodzis Donatas Jocius Ona Lapteva Rugilė Kručaitė <p><strong>Purpose</strong><em>.</em>&nbsp;To demonstrate options and alternative for drainage of inaccessible presacral abscess by the example of a rare clinical case of pyogenic spondylodiscitis, transsacraly drained under a combination of two interventional techniques – CT-guided bone biopsy and abscess drainage.<br><strong>Materials and methods.&nbsp;</strong>A 55-year-old patient with history of recurrent paravertebral abscesses previously treated with antibiotic therapy was referred to our institution experiencing lower back pain and weakness in both lower extremities. Computed tomography revealed pyogenic spondylodiscitis along with left facet joint destruction and presacral abscess located in ventral sacral surface. Due to inaccessible abscess location, it was decided to perform CT-guided percutaneous transsacral abscess drainage. An 8G bone marrow biopsy needle was used to penetrate the sacrum and create a path for drainage catheter placement. Using the Seldinger technique 8 Fr drainage catheter was inserted into abscess cavity.<br><strong>Results.</strong><em>&nbsp;</em>Neither early nor late procedure-related complications occurred. Sixteen days after drainage procedure, the catheter was withdrawn as patient’s condition improved and the outflow of pus had reduced considerably.<br><strong>Conclusions.&nbsp;</strong>Despite being rarely used, CT fluoroscopy-guided transsacral drainage approach is considered to be minimally invasive and in some cases the only viable option for drainage of pyogenic spondilodiscitis of the lumbosacral junction.</p> 2021-03-15T00:00:00+00:00 Copyright (c) 2021 Authors Review of New Clinical Aspects of Cardiac Pathology in Patients with COVID-19 Infection 2021-03-10T09:22:23+00:00 Audrė Alonderytė Giedrius Navickas Robertas Stasys Samalavičius Pranas Šerpytis <p><strong>Background:</strong>&nbsp;COVID-19 disease is a huge burden for society and healthcare specialists. As more information is gathered about this new disease, it becomes clear that it affects not only respiratory, but also cardiovascular system.<br><strong>Materials and Methods:&nbsp;</strong>The aim of this review is to analyse the information about myocardial injury caused by COVID-19 and overview treatment options for these patients in publications which were published in the last 5 years. The data for this overview were collected in the PubMed database. Full-text articles were used for analysis when their title, summary, or keywords matched the purpose of the review. Only publications published in English that appeared in the last 5 years were analysed. For the analysis 14 publications were selected and analysed.<br><strong>Conclusion:</strong>&nbsp;COVID-19 infection could mimic ST-elevation myocardial infarction and it is crucial to differentiate the main cause and choose the appropriate treatment. Cardiovascular complications are related with poorer prognosis and higher mortality. This should be thoroughly considered by the healthcare specialists in order to choose appropriate treatment strategy. Patients with acute coronary syndrome (ACS) due to plaque rupture should receive dual antiplatelet therapy and full-dose anticoagulation if it is not contraindicated. Therefore, priority should be given to the acute coronary syndrome given the low evidence of new antiviral treatment effectiveness. Number of agents which are under investigation for COVID-19 may have interactions with oral antiplatelet drugs. Selected patients could receive immunosuppressive treatment as well as extracorporeal membrane oxygenation as a bridge to recovery.</p> 2021-03-09T00:00:00+00:00 Copyright (c) 2021 Authors Transcatheter Artery Embolization for Postoperative Haemorrhage after Arterio-Venous Malformation – Safer Option 2021-03-09T09:22:21+00:00 Panda Subrat Sharma Nalini Khan Dina Aisha Saha Anusmita Das Rituparna Phukan Pranjal <p><strong>Introduction:</strong>&nbsp;Hemorrhage is one of the commonest and dreaded complications especially with pelvic surgeries. Gestational trophoblastic neoplasias (GTN) are notorious for their propensity to bleed torrentially and metastasis to vital organs. GTN is associated with an arterio-venous malformation (AVM) about 10-15% of the time, which can lead to bleeding after surgery or after complete remission. After the failure of conventional management with chemotherapy or surgery one is compelled to take another modality of management. One of such methods is the use of transcatheter artery embolization in cases of GTN or post-hysterectomy cases of GTN. Transcatheter artery<strong>&nbsp;</strong>embolization (TAE) was effective in controlling bleeding due to arterio-venous malformation in 96% of cases.<br><strong>Case:</strong>&nbsp;46 years P2L2A5 (para 2, living issue 2, abortion 5) post-hysterectomy patient presented with bleeding from the vagina after surgery. Twice she underwent vaginal vault repair after hysterectomy but failed. Ultrasonography (USG) showed arterio-venous malformation (AVM); angiography revealed massive extravasation from (left internal iliac artery and abnormal vascularity from the right internal iliac. She was taken up for bilateral internal iliac arteries embolization but again had a heavy bout of bleeding after one week. CT scan confirmed a residual lesion and she underwent a repeat embolization after which the bleeding stopped. Serum BHCG was advised during workup and it was 1997 IU/ml. A diagnosis of GTN was confirmed. The patient was discharged after two cycles of chemotherapy with advice to review for the third one on an outpatient department basis.<br><strong>Conclusion:</strong><em>&nbsp;</em>We concluded that TAE is an effective and safer alternative to surgery in postoperative bleeding from AV malformation in the case of GTN. It can be repeated and should be made to more liberal use in emergency settings.</p> 2021-03-09T00:00:00+00:00 Copyright (c) 2021 Authors Incidental Detection of Preputial Calculus in a Patient with Partial Phimosis: Is it as Rare as We Believed? 2021-03-09T09:22:22+00:00 Evangelos N. Symeonidis Chrysovalantis Toutziaris Antonios Katsimantas Georgios Dimitriadis <p><strong>Background:</strong><em>&nbsp;</em>Preputial stone disease is the rarest type of urolithiasis. Adult males with severe phimosis and poor hygiene are mainly affected.<br><strong>Case Presentation:</strong>&nbsp;A 90-year-old male sought treatment for steadily worsening urinary frequency, intermittency, incontinence, and pain at the tip of his penis of 3-days duration. Clinical examination revealed a palpable distended urinary bladder, a partial phimosis and a round, hard on palpation, and partly ulcerative lesion at the tip of the foreskin. A single, 1 cm in maximum diameter stone, was incidentally discovered beneath the prepuce and subsequently removed from the preputial sac. The patient refused further treatment with circumcision, and opted for conservative therapy of benign prostate hyperplasia.<br><strong>Conclusion:</strong><em>&nbsp;</em>Personal hygiene remains the cornerstone in the prevention of the preputial calculi formation, while circumcision represents the mainstay of treatment for definite stone removal and elimination of the precipitating causes.</p> 2021-03-09T00:00:00+00:00 Copyright (c) 2021 Authors Current Recommendations for Airway Management Techniques in COVID-19 Patients without Respiratory Failure Undergoing General Anaesthesia: A Nonsystematic Literature Review 2021-02-19T09:21:43+00:00 Milda Grigonytė Agnė Kraujelytė Elija Januškevičiūtė Giedrius Šėmys Greta Bružytė-Narkienė Oresta Kriukelytė Eglė Kontrimavičiūtė Nomeda Rima Valevičienė <p><strong>Background</strong>. Since severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) first emerged, many articles have been published on airway management for coronavirus disease 2019 (COVID-19) patients. However, there is a lack of clear and concise conceptual framework for working with infected patients without respiratory failure undergoing general anaesthesia compared to noninfected patients. The aim of this article is to review current literature data on new challenges for anaesthesia providers, compare standard airway management techniques protocols with new data, and discuss optimisation potential.<br><strong>Materials and methods</strong>. Literature search was performed in Google Scholar and PubMed databases using these keywords and their combinations: anaesthesia, preoxygenation, airway management, difficult airway, SARS-CoV-2, COVID-19. The following nonsystematic review is based on a comprehensive literature search of available data, wherein 41 articles were chosen for detailed analysis. Summarised and analysed data are presented in the article.<br><strong>Results</strong>.<strong>&nbsp;</strong>SARS-CoV-2 has unique implications for airway management techniques in patients without respiratory failure undergoing general anesthesia. Main differences with the standard practice include: institutional preparedness, team composition principles, necessary skills, equipment, drugs, intubation and extubation strategies. Failed or difficult intubation is managed with predominance of emergency front of neck access (FONA) due to increased aerosol generation.<br><strong>Conclusions</strong>.<strong>&nbsp;</strong>Airway management techniques in COVID-19 patients without respiratory failure are more challenging than in noninfected patients undergoing general anaesthesia. Safe, accurate and swift actions avoid unnecessary time delay ensuring the best care for patients, and reduce risk of contamination for staff. Appropriate airway strategy, communication, minimisation of time for aerosol generating procedures and ramped-up position aid to achieve these goals. During the pandemic, updated available literature data may change clinical practice as new evidence emerges.</p> 2021-02-19T00:00:00+00:00 Copyright (c) 2021 Authors Ollier Disease: A Case Series and Literature Review 2021-02-19T09:21:44+00:00 Vėtra Markevičiūtė Medeinė Šilenė Markevičiūtė Mindaugas Stravinskas <p><strong>Background</strong><em>.</em>&nbsp;Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the growth plate cartilage predominantly unilaterally in the metaphyses and diaphyses of tubular bones. They usually affect the long bones of the hand, the humerus, and the tibia, followed by flat bones, such as the pelvis. The estimated prevalence of Ollier disease is 1 in 100,000 and while it is linked with somatic heterozygous mutations in IDH1 or IDH2 genes, exact etiology is unknown. The risk of malignant transformation towards chondrosarcoma is up to 30–35% and it is clinically suspected when pain and a rapid increase in the size of the lesions is seen.<br><strong>Case presentations</strong><em>.&nbsp;</em>We report two clinical cases of patients diagnosed with Ollier disease. In both cases transformation to chondrosarcoma was observed.<br><strong>Conclusions</strong><em>.</em>&nbsp;Ollier disease is a rare disorder, defined by the presence of multiple enchondromas and an asymmetric distribution of the cartilage lesions that can be extremely variable in terms of size, location, age, gender. Constant monitoring of patients is important due to the high risk of malignancy. Because the disease is very rare and the manifestations vary widely, each patient’s case must be evaluated, and the treatment strategy adopted individually.</p> 2021-02-19T00:00:00+00:00 Copyright (c) 2021 Authors Age-Related Macular Degeneration: What Do We Know So Far? 2021-02-19T09:21:45+00:00 Ho Hin Ma Rasa Liutkevičienė <p>Ageing is a natural process that everyone experiences and nobody is an exception. With ageing, our body experiences physiological changes. In this article, the focus is made on the physiological changes of our eyes related to ageing and age-related macular degeneration (AMD), which is the most common cause of incurable visual impairment in developed countries. With ageing populations increasing in many countries, more and more patients will have AMD in a foreseeable future. In Eastern Europe, blindness due to AMD, currently, is approximately 20% and there has been an increasing trend depicted in the future. Generally, AMD can be divided into early stages and two forms in an advanced (late) stage. Advanced AMD form includes neovascular AMD (wet) and geographic atrophy (late dry), both of these are associated with substantial, progressive visual impairment. The pathogenesis of AMD is complex and, by far, not completely understood. Multiple factors have been studied, for example: environmental factor, genetic factor (complement factor H), lifestyle. It has been proved that they are linked to higher the risk of developing of AMD, however, the actual pathogenesis is not yet formulated. AMD progression can also be a culprit to certain biochemical events and molecular changes linked to inflammation and pathological angiogenesis. In nowadays, we do have diagnostic methods for both early and late forms of AMD as well as ways to prevent progression of early AMD and wet AMD. However, until now, there is still no treatment for dry AMD. This article is a brief review of AMD and may hopefully lead to some future directions in early diagnostic methods and treating dry AMD.</p> 2021-02-19T00:00:00+00:00 Copyright (c) 2021 Authors Unfriendly Fire: How the Tobacco Industry is Destroying the Future of Our Children 2021-02-08T09:20:58+00:00 Andrew Bush Thomas Ferkol Algirdas Valiulis Artur Mazur Ivane Chkhaidze Tamaz Maglakelidze Sergey Sargsyan Gevorg Boyajyan Olga Cirstea Svitlana Doan Oleksandr Katilov Valeriy Pokhylko Leonid Dubey Edita Poluziorovienė Nina Prokopčiuk Vaida Taminskienė Arūnas Valiulis <p>Tobacco has long been known to be one of the greatest causes of morbidity and mortality in the adults, but the effects on the foetus and young children, which are lifelong, have been less well appreciated. Developing from this are electronic nicotine delivery systems or vapes, promulgated as being less harmful than tobacco. Nicotine itself is toxic to the foetus, with permanent effects on lung structure and function. Most vapes contain nicotine, but they also contain many other compounds which are inhaled and for which there are no toxicity studies. They also contain known toxic substances, whose use is banned by European Union legislation. Accelerating numbers of young people are vaping, and this does not reflect an exchange of vapes for cigarettes. The acute toxicity of e-cigarettes is greater than that of tobacco, and includes acute lung injury, pulmonary haemorrhage and eosinophilic and lipoid pneumonia. Given the worse acute toxicity, it should be impossible to be complacent about medium and long term effects of vaping. Laboratory studies have demonstrated changes in lung proteomics and the innate immune system with vaping, some but not all of which overlap with tobacco. It would be wrong to consider vapes as a weaker form of tobacco, they have their own toxicity. Children and young people are being targeted by the vaping industry (which is largely the same as the tobacco industry), including on-line, and unless an efficient legislative program is put in place, a whole new generation of nicotine addicts will result.</p> 2021-02-08T00:00:00+00:00 Copyright (c) 2021 Authors Pneumocystis Jirovecii Pneumonia in a Kidney Transplant Recipient 13 Months after Transplantation: A Case Report and Literature Review 2021-02-03T09:20:45+00:00 Dominykas Varnas Augustina Jankauskienė <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> 2021-01-25T00:00:00+00:00 Copyright (c) 2021 Authors Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms 2021-02-03T09:20:45+00:00 Adelė Butėnaitė Robertas Strumila Aistė Lengvenytė Indrė Kotryna Pakutkaitė Aušra Morkūnienė Aušra Matulevičienė Edgaras Dlugauskas Algirdas Utkus <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> 2021-01-21T00:00:00+00:00 Copyright (c) 2021 Authors Depressive Symptoms, Help-Seeking, and Barriers to Mental Healthcare Among Healthcare Professionals in Lithuania 2021-02-03T09:20:46+00:00 Daniel Rogoža Robertas Strumila Eglė Klivickaitė Edgaras Diržius Neringa Čėnaitė <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> 2021-01-19T00:00:00+00:00 Copyright (c) 2021 Authors SARS-CoV-2 Seroprevalence in Lithuania: Results of National Population Survey 2021-02-03T09:20:47+00:00 Kastytis Šmigelskas Kęstutis Petrikonis Vytautas Kasiulevičius Ramunė Kalėdienė Audronė Jakaitienė Snieguolė Kaselienė Skirmantė Sauliūnė Aušra Beržanskytė Mindaugas Stankūnas <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> 2021-01-18T00:00:00+00:00 Copyright (c) 2021 Authors Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy – a Case Report 2021-02-03T09:20:48+00:00 Dovilė Gabartaitė Dovilė Jančauskaitė Violeta Mikštienė Eglė Preikšaitienė Rimvydas Norvilas Nomeda Valevičienė Germanas Marinskis Audrius Aidietis Jūratė Barysienė <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> 2021-01-18T00:00:00+00:00 Copyright (c) 2021 Authors The Osteochondroma as a Cause of Ischiofemoral Impingement – First Case Series 2021-04-07T09:23:32+00:00 Bunyamin Güney Emrah Doğan Murat Yunus Özdemir <p>Ischiofemoral impingement (<em>ISFI</em>)<em>&nbsp;</em>is the compression of the&nbsp;<em>quadratus femoris&nbsp;</em>muscle resulting from the narrowed distance between the lesser trochanter and the ischial bone. Congenital factors (such as developmental hip dysplasia), positional conditions (such as femoral anteversion), intertrochanteric fractures, osteotomy, and osteoarthritis may lead to the superior and medial displacement of the femur which is causing the&nbsp;<em>ISFI</em>. According to the literature, osteochondroma (<em>OC</em>) is not described among the main etiological factors of&nbsp;<em>ISFI.</em>&nbsp;There is only one case report about the relationship between&nbsp;<em>ISFI&nbsp;</em>and&nbsp;<em>OC</em>. We present two&nbsp;<em>ISFI</em>&nbsp;cases due to&nbsp;<em>OC&nbsp;</em>accompanied by radiological findings. Our patients are 19 and 32 years old. Our article is the first case series on this topic.</p> 2021-04-06T10:59:41+00:00 Copyright (c) 2021 Bunyamin Güney | Emrah Doğan | Murat Yunus Özdemir