Vilnius University Hospital Santariškių Klinikos

Background: Hypertension is one of the most common cardiovascular risk factors worldwide. Additionally, epidemiological studies show a worryingly high prevalence of treatment-resistant hypertension. Especially concerning is the frequent co-occurrence of other cardiovascular risk factors, including dyslipidaemia, smoking, and diabetes mellitus. Objectives: The aim of this study is to investigate the prevalence of arterial hypertension and other cardiovascular risk factors in patients aged 50–54 years. Methods: A retrospective study was conducted on patients participating in the Lithuanian High Cardiovascular Risk Primary Prevention Programme. Data were collected from self-report questionnaires, laboratory tests, and clinical assessment. Hypertension was confirmed if systolic blood pressure was ≥140 mmHg and/or diastolic blood pressure was ≥90 mmHg or the patient had been previously diagnosed. Results: In total, 49155 patients—32018 (62.4%) women and 17137 (37.6%) men—were enrolled in this study. A total of 24549 (49.9%) patients were diagnosed with arterial hypertension. The prevalence of non-resistant primary hypertension was 45.9%, while the prevalence of resistant primary hypertension was 4.1%. The prevalence of dyslipidaemia was 92.79% in the non-resistant primary arterial hypertension group and was 94.59% in the resistant primary arterial hypertension group. The prevalence of smoking was higher in the non-resistant primary arterial hypertension group compared to patients with resistant hypertension (22.43% and 17.09%, respectively). A total of 23.06% of patients with resistant primary arterial hypertension had diabetes mellitus. Conclusions: The prevalence of primary arterial hypertension in middle-aged Lithuanians was high, reaching almost 50% in both sexes. Patients tended to have many cardiovascular risk factors simultaneously, with dyslipidaemia being the most common (prevalence > 90%).

Fast and accurate evaluation of the extensiveness of the subarachnoid hemorrhage from computed tomography (CT) scans might facilitate timely and more accurate actions in the treatment of the condition. An automatic tool with the ability to integrate into the chain of actions of the radiologist would at least partially solve this issue. In this paper, we investigate a data set comprising patients (N = 36) diagnosed with Subarachnoid Hemorrhage, collected from two distinct university hospitals. The contribution of this study lies in the modification of conventional segmentation models. Our approach involves augmenting the standard segmentation network architecture by introducing an additional regression head on top of the network. The findings reveal a considerable improvement in the overall performance of the proposed model compared to the standard use of deep learning for medical image segmentation: Intersection over Union (IoU) scores are 0.58 with an unmodified architecture versus 0.63 with our proposed enhanced network structure (and 0.64 vs. 0.70 for Dice coefficient). This augmentation not only enhances the detection accuracy of distinguishing SAH and non‐SAH layers but also results in more precise prediction of segmentation masks. The simultaneous consideration of both segmentation and regression tasks within the network leads to enhanced capabilities in localizing and quantifying SAH more accurately. Additionally, it is shown that the prediction of outcome (Glasgow Outcome Score) based on estimated SAH volume is at the same accuracy as if the hand‐segmented volumes are used: AUC was 0.73 with our segmentation results, while expert evaluation based AUC is 0.72.

In acute myeloid leukemia, the burden of CD34+CD38- leukemia stem cells (LSC) has prognostic value at diagnosis and after induction chemotherapy. Since different methods of LSC quantification have been proposed, we determined the prognostic value on overall survival and incidence of relapse of these methods across ELN2017 risk groups, using data from the HOVON-SAKK132 trial. In addition, we have evaluated the optimal number of acquired white blood cells for accurate LSC detection and the prognostic value of individual LSC markers. Results show that acquiring 1 million white blood cells is essential for accurate LSC-negativity assessment. Among different LSC markers, CD44 overexpression on CD34+CD38- cells was the only insignificant marker in our panel. Testing the impact of several published variations on the analysis for LSC assessments on prognostic value for overall survival and cumulative incidence of relapse, showed marginal differences, demonstrating the robust prognostic value of LSC burden. For further clinical implementation, the optimal LSC assessment may differ among ELN risk groups. In conclusion, LSC burden is a robust prognostic factor and insight in the different methods of LSC definition can facilitate the clinical implementation.

Background Post COVID-19 condition (PCC) affects 10–40% of patients and is characterized by persisting symptoms at ≥ 4 weeks after SARS-CoV-2 infection. Symptoms can last 7 or even more months. How long PCC persists and any changes in its clinical phenotypes over time require further investigation. We investigated PCC trajectories and factors associated with PCC persistence. Material and methods We included both hospitalized COVID-19 patients and outpatients from February 2020 to June 2023, who underwent at least one follow-up visit after acute infection at San Paolo Hospital, University of Milan. Follow-up visits were conducted at the post COVID-19 clinic or via telemedicine. During each follow-up examination, patients completed a short version of the World Health Organization (WHO) Case Report Form (CRF) for ongoing symptoms, the Hospital Anxiety and Depression Scale (HADS), and a screening tool for Post-Traumatic Stress Disorder (PTSD). Statistical analyses involved Chi-square, Mann–Whitney, Kruskal–Wallis tests, and logistic regression analysis. Results We enrolled 853 patients (median age 62, IQR 52–73; 41% females). 551/853 (64.6%), 152/418 (36.4%) and 21/69 (30.4%) presented PCC at median follow up of 3 (IQR 2–3), 7 (IQR 6–10) and 26 (IQR 20–33) months, respectively (p < 0.001). The main clinical phenotypes were fatigue, respiratory sequelae, brain fog and chronic pain; anosmia/dysgeusia was observed mostly in the first post-acute period. Female sex, acute disease in 2020, a longer hospital stay and no COVID-19 vaccination were associated with persistence or resolution of PCC compared to never having had PCC. Anxiety, depression and PTSD were more common in PCC patients. By fitting a logistic regression analysis, acute infection in 2020 remained independently associated with persistent PCC, adjusting for age, sex, preexisting comorbidities and disease severity (AOR 0.479 for 2021 vs 2020, 95%CI 0.253–0.908, p = 0.024; AOR 0.771 for 2022 vs 2020, 95%CI 0.259–2.297, p = 0.641; AOR 0.086 for 2023 vs 2020, 95%CI 0.086–3.830, p = 0.565). Conclusions There was a reduction in the PCC burden 7 months following the acute phase; still, one third of patients experienced long-lasting symptoms. The main clinical presentations of PCC remain fatigue, respiratory symptoms, brain fog, and chronic pain. Having had SARS-CoV-2 infection during the first pandemic phases appears to be associated with persistent PCC.

The objective of this study is to evaluate the mummified remains of eight high-ranking people buried in two crypts of the Evangelical Reformed Church at Kėdainiai, Lithuania. The evaluation criteria include biological or cultural indicators, the assessment of pathological conditions and their possible etiology, and the preservation status of these remains. The eight individuals were recovered during a project aimed at exploring the tombs of potential members of the Radziwiłł family, a powerful dynasty of the former Grand Duchy of Lithuania and the Crown of the Kingdom of Poland (1569–1795). However, the remains could also belong to other affluent citizens of Kėdainiai who were buried in the same church between the 17th and 18th centuries. The deceased were investigated using classical anthropological methods and computed tomography, which allowed for a more nuanced vision of both individual social status and bio-histories for this assemblage. The results identify one case of post-mortem manipulation, evidence of significant pathological changes, including degenerative joint disease, lung and arterial calcifications, and neoplasias that would not have been visible without a paleoradiological approach. The historical context, as well as comparative clinical cases, helped narrow down the diagnoses proposed for the lesions concerned, and will be crucial to address additional histological or biomolecular research, should this be carried out in the future. Additionally, the study highlights the need for regular monitoring of the remains, particularly given the evident decay observed over the past four decades. This adds to the body of research suggesting that the more frequent inspection of individuals in which socioeconomic status can be assumed through mortuary context is warranted. In sum, this investigation shows that paleopathology, coupled with paleoradiology, provides a more permanent data set that enhances the interpretation of pathological conditions in preserved bodies, especially when they are in physical danger due to environmental or political changes.

Background: Congenital long QT syndrome (LQTS) is a rare cardiac disorder caused by repolarization abnormalities in the myocardium that predisposes to ventricular arrhythmias and sudden cardiac death. Potassium channel-mediated LQT1 and LQT2 are the most common types of channelopathy. Recently, LQTS has been acknowledged as an electromechanical disease. Methods: A total of 87 genotyped LQT1/LQT2 patients underwent cardiac evaluation. A comparison between LQT1 and LQT2 electrical and mechanical parameters was performed. Results: LQT2 patients had worse electrical parameters at rest: a longer QTc interval (p = 0.007), a longer Tpe in lead V2 (p = 0.028) and in lead V5 (p < 0.001), and a higher Tpe/QT ratio in lead V2 (p = 0.011) and in lead V5 (p = 0.005). Tpe and Tpe/QT remained significantly higher in the LQT2 group after brisk standing. Tpe was longer in LQT2 patients compared with LQT1 patients during peak exercise (p = 0.007) and almost all recovery periods in lead V2 during EST. The mid-cavity myocardium mean radial contraction duration (CD) was longer in LQT2 patients (p = 0.02). LQT2 patients had a longer mean radial CD in mid-septal (p = 0.015), mid-inferior (p = 0.034), and mid-posterior (p = 0.044) segments. Conclusions: Potassium channel-mediated LQTS has different effects on cardiac electromechanics with a more pronounced impact on LQT2 patients. Tpe was more prominent in the LQT2 cohort, not only at rest and brisk standing but also during EST exercise and at recovery phases. The altered mean radial CD in the mid-cavity myocardium was also specific for LQT2 patients.

Background and Objectives: Atherosclerotic cardiovascular disease is one of the most common causes of death and disability around the world. Hypercholesterolemia is an established and widely prevalent risk factor; however, the prevalence of severe hypercholesterolemia (which is characteristic for familial hypercholesterolemia) has been studied far less. The aim of this study was to determine the prevalence of severe hypercholesterolemia among patients with acute coronary syndrome. Materials and Methods: A retrospective study of patients hospitalised at Vilnius University Hospital Santaros Klinikos due to acute coronary syndrome was performed. Data were attained from an electronic medical history database. Data such as sex, age, cardiovascular risk factors (hypertension, diabetes) and low-density cholesterol results were collected. Severe hypercholesterolemia was defined as low-density lipoprotein cholesterol levels ≥ 4.9 mmol/L. Results: A total of 34,669 patients were included in this study (12,115 females (34.9%) and 22554 (65.1%) males, p < 0.001). The median age of the entire study population was 67 years. A total of 3434 patients (9.9%) had severe hypercholesterolemia, 371 (1.1%) patients met the criteria for phenotypically probable familial hypercholesterolemia, and 36 (0.1%) patients presented with phenotypically definite familial hypercholesterolemia. The most common concomitant risk factor in this study was arterial hypertension, which was found in 48% of patients. Conclusions: Based on the results of this study, severe hypercholesterolemia is prevalent among patients with acute coronary syndrome, with as many as 9.9% of patients presenting with severe hypercholesterolemia at the time of hospitalisation. The definite familial hypercholesterolemia phenotype is scarcer, with prevalence reaching 0.1% of patients with acute coronary syndrome.

Background Limited evidence exists on how the occurrence of bacterial and viral co-infections have developed since the SARS-CoV-2 Omicron variant emerged. We investigated whether the occurrence of community-onset co-infections in adult patients hospitalized with COVID-19 differed during the Wild type, Alpha, Delta, and Omicron periods, and whether such co-infections were associated with an increased risk of mortality. Methods We conducted a multinational cohort study including COVID-19 hospitalizations until 30 April 2023 in five European countries. The outcome was bacterial and viral co-infections, based on five different test modalities. Variant periods were compared with regards to occurrences of co-infections and risk ratios for co-infections (Omicron versus pre-Omicron), as well as association with in-hospital mortality (Omicron versus pre-Omicron). Results A total of 29,564 patients were included: 12,601 Wild type, 5,256 Alpha, 2,433 Delta, and 9,274 Omicron. The co-infection rate was 2.6% (327/12,601) for Wild type, 2.0% (105/5,256) for Alpha, 3.2% (77/2,433) for Delta, and 7.9% (737/9,274) for Omicron. Patients with Omicron had a significantly increased risk ratio of co-infection compared with preceding variants (1.88 [95% CI 1.53-2.32], P<0.001). These results were consistent across several subgroup analyses. An increased occurrence (19% [232/1,246] versus 11% [3,042/28,318]) and adjusted risk (1.69 [1.49-1.91], P<0.001) of in-hospital mortality was observed in patients with a verified co-infection compared with patients without a co-infection. Conclusions Bacterial and viral co-infections were more prevalent during the Omicron period compared with preceding variants. Such co-infections were associated with an increased risk of in-hospital mortality, calling for sustained monitoring and clinical vigilance.

Background and Objectives: Pathogenic variants in the PAX2 gene have been associated with a spectrum of eye and kidney disorders, ranging from papillorenal syndrome (known as renal coloboma syndrome) to isolated nephrosis without kidney morphological anomalies (focal segmental glomerulosclerosis), inherited in an autosomal dominant manner. However, due to the growing number of reports of pathogenic variants in the PAX2 gene, it is observed that genotype–phenotype correlation is not always consistent. We present patients from two unrelated families with PAX2 pathogenic variants c.685C>T and c.250G>A, highlighting the diverse phenotypic expression of PAX2-related disorders. Materials and Methods: We analyzed clinical and genetic data from two families who were tested for genomic abnormalities using targeted next-generation sequencing and Sanger sequencing for segregation analysis. Results: In Family A, a 27-year-old male presented with chronic kidney disease stage 3, proteinuria, and multicystic kidney dysplasia diagnosed at 11 years old. An ophthalmologic examination revealed bilateral optic nerve dysplasia. In Family B, a 6-year-old female and her 4-year-old sister were clinically diagnosed with renal hypoplasia, while their 36-year-old father presented with chronic kidney disease stage 3, focal segmental glomerulosclerosis, and optic disc pits. Genetic analysis identified a heterozygous PAX2 pathogenic variant c.685C>T, p.(Arg229*), in Family A and a heterozygous PAX2 pathogenic variant c.250G>A, p.(Gly84Ser) in Family B. Conclusions: The literature and our data further support that the same PAX2 variants may cause diverse kidney and ocular phenotypes among unrelated families and within the same family. Due to variable expressivity, a wide range of clinical manifestations of rare hereditary kidney diseases are still underdiagnosed, and a multidisciplinary approach is required to detect extrarenal signs of PAX2-related disorder.

Purpose Small renal masses (SRMs) SRMs are a heterogeneous group of small kidney lesions. Currently, the genomic landscape of SRMs is understudied, and clinically relevant tools for malignancy detection and fast tumor growth prediction are lacking. The aim of the study was to evaluate whether mutations in SRMs are associated with increased risk of renal cell carcinoma (RCC) or aggressive tumors. Methods In this pilot study, 52 patients with SRMs were divided based on tumor histology into RCC and benign tumors, while RCC cases were divided into fast-growing and slow-growing tumor groups. Tissue biopsy samples evaluated for mutations in 51 cancer hotspot genes using next generation sequencing and qPCR. Non-benign mutations were tested for associations with RCC and clinical features. Receiver operating curve analysis used for evaluation of mutation biomarker models prediction of RCC and fast-growing tumors. Results 75% of SRMs harbored non-synonymous alterations in 16/51 genes. 38.5% of detected mutations were listed in ClinVar and correlated with smaller SRM volume (p = 0.023). KRAS, VHL, HNF1A, TP53, and ATM mutations were predominantly detected in RCC rather than benign SRMs (p = 0.046). SRMs with pathogenic mutations were at three times higher risk of being RCC and four times higher risk of fast growth. Conclusion Genomic biomarkers may improve risk stratification and management of patients with SRMs, however a more extensive genomic analysis of SRMs is still needed.

Zusammenfassung Einführung In der sich stetig entwickelnden Augenheilkunde ist die Phakoemulsifikation eine grundlegende operative Fertigkeit für angehende Augenärzte und die am häufigsten durchgeführte Operation. Eine umfassende Untersuchung europäischer Ausbildungserfahrungen zwischen 2018 und 2022 zeigte erhebliche Unterschiede. Ziel dieser Studie ist, die deutschen Ergebnisse im Kontext der europäischen Daten zu betrachten. Methoden In dieser Studie werden die Umfrageergebnisse von deutschen Teilnehmern an den EBO-Prüfungen (EBO: European Board of Ophthalmology) 2018 – 2022 analysiert und im europäischen Gesamtvergleich eingeordnet. Darüber hinaus erfolgt eine regionale Analyse nach Bundesländern. Ergebnisse 136 von 445 Befragten (30,6%) haben den Fragebogen beantwortet. 67,7% hatten die EBO-Prüfung zwischen 2021 und 2022 abgelegt, wobei die Mehrheit der Studienteilnehmer Frauen waren (59,6%) mit einem Durchschnittsalter von 34 ± 2 Jahren. 89,7% waren Rechtshänder, stammten aus 14 verschiedenen Bundesländer, zu einem Großteil aus Nordrhein-Westfalen, Baden-Württemberg, Bayern und Berlin. Von den Befragten gaben 22,8% an, 10 oder mehr Trainingseinheiten an Tieraugen durchgeführt zu haben. 5,1% gaben an, Trainingseinheiten an synthetischen Augen absolviert zu haben und 16,9% gaben an, mit einem Virtual-Reality-Simulator trainiert zu haben. Eine Anzahl von über 10 Schulungen korrelierte signifikant mit einem höheren Selbstvertrauen bei der Durchführung von Kataraktoperationen (p < 0,001). 83 (61%) der Befragten, haben während ihrer Facharztausbildung in Deutschland keine Schritte der Kataraktoperationen an Patienten durchgeführt. Dies ist weit über dem europäischen Mittelwert. Frauen sind in dieser Gruppe statistisch signifikant überrepräsentiert mit 67,5% (p = 0,019) der Subgruppe. Diskussion Im europäischen Kontext gehört Deutschland zu den Ländern, in denen die Ausbildung in der Kataraktchirurgie nicht im Curriculum mit festen Zahlen verankert ist. Dieses Modell könnte zu den signifikanten Geschlechterunterschieden beigetragen haben. Die simulationsbasierte medizinische Ausbildung könnte dieses Problem adressieren, als zusätzliches Instrument für einen gerechteren Zugang zur chirurgischen Ausbildung. Schlussfolgerung Der innereuropäische Vergleich und Austausch kann dazu beitragen, bessere Leitlinien für die ophthalmologische Facharztausbildung zu formulieren. Dadurch könnte das Ausbildungsniveau sowohl in der konservativen als auch operativen Ophthalmologie in ganz Europa standardisiert und verbessert werden.

Objectives Gastroscopy is used to examine the upper gastrointestinal (GI) tract, but no validated method yet exists to assess the quality of mucosal visualization in children. Utilizing validated endoscopic scales can enhance study quality and standardization across centers. This study aimed to validate the existing Toronto Upper Gastrointestinal Cleaning Score (TUGCS) in pediatric patients. Methods This was a multicenter, prospective, single‐masked study conducted in 10 European pediatric gastroenterology centers. Endoscopists with varying degrees of experience assessed the quality of mucosal visualization in prerecorded gastroscopies using the TUGCS. Each endoscopist assessed the studies two times in random order, with an interval of at least 2 weeks. The correlations of individual and total scores were statistically compared between themselves, between assessors, and between assessment attempts. Internal consistency was also checked with Cronbach's α . Results Seventeen endoscopists participated in the study. The TUGCS demonstrated high consistency within raters, with a score of 0.64 (95% confidence interval [CI]: 0.34–0.84), and an excellent test–retest reliability of 0.97 (95% CI: 0.94–0.99). The scale also showed high internal consistency, with a Cronbach's α of 0.95. The correlation between different items ranged from 0.60 to 0.77, and the correlation between individual items and the total score ranged from 0.66 to 0.88. No significant differences in the assessment were found based on the raters' experience performing endoscopy, specialization, age, or gender. The endoscopists found TUGCS easy to learn and potentially useful, especially in clinical trials. Conclusions The TUGCS was demonstrated as a reliable and validated method for assessing the visualization quality of the upper GI mucosa in pediatric patients.

Objective VASCERN (https://vascern.eu/) is the European Reference Network for Rare Multisystemic Vascular Diseases. VASCERN-VASCA is the working group within VASCERN that focuses on the study of vascular anomalies. One of the objectives of this group is to establish patient pathways to guide physicians toward efficient diagnostic and management measures. The patient pathway presented here is focused on capillary malformations (CMs). Methods The Nominal Group Technique, a structured variation of small group discussion was used. Two facilitators were identified: one to propose initial discussion points and draw the pathway and another to chair the discussion. A dermatologist (E. Baselga) was chosen as the first facilitator due to her specific clinical and research expertise. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and biannual face-to-face meetings. Results The pathway starts from the clinical recognition of a vascular red stain, describing clinical characteristics and location. Depending on the clinical features, a subsequent workup for associated manifestations or complications is suggested. These steps should enable the establishment of 6 subtypes of CMs: (1) nevus simplex; (2) isolated CM, syndromic or nonsyndromic; (3) CM of microcephaly CM syndrome; (4) CM of CM–arteriovenous malformation syndromes; (5) “pseudo” CM of arteriovenous malformation; (6) cutis marmorata telangiectatica congenita. Management according to the recognized phenotype is detailed in subsequent pages of the pathway. A color code is used to differentiate (1) clinical evaluations, (2) investigations, (3) associated genes, and (4) treatments. Actions relevant to all types are marked in separate boxes, for example, when to perform specific imaging. Conclusion The collaborative efforts of VASCERN-VASCA, a European network of the 14 Expert Centers for Vascular Anomalies, have led to a consensus pathway for CMs. This pathway may help clinicians to guide in the diagnosis and management of CMs, as well as to emphasize the crucial role of multidisciplinary expert centers in the management of these patients. This pathway is available on the VASCERN website (http://vascern.eu/).