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18 pages, 8060 KB  
Article
The Role of Cardiovascular Risk Prediction Model Selection in Primary Prevention: An Observational Study of Statin Eligibility Agreement Across Nine Scores in a Lithuanian Primary-Prevention Cohort
by Petras Navickas, Sigita Glaveckaitė, Laura Lukavičiūtė-Navickienė, Agnė Šatrauskienė, Arvydas Baranauskas, Egidija Rinkūnienė, Emilija Meškėnė, Vaida Šileikienė, Edita Lycholip and Aleksandras Laucevičius
Medicina 2026, 62(5), 979; https://doi.org/10.3390/medicina62050979 (registering DOI) - 17 May 2026
Viewed by 132
Abstract
Background and Objectives: Cardiovascular risk prediction models (RPMs) are widely used to guide statin initiation in primary prevention, yet the extent to which different models produce concordant treatment decisions in the same population remains insufficiently characterized. We compared statin eligibility across nine [...] Read more.
Background and Objectives: Cardiovascular risk prediction models (RPMs) are widely used to guide statin initiation in primary prevention, yet the extent to which different models produce concordant treatment decisions in the same population remains insufficiently characterized. We compared statin eligibility across nine commonly used RPMs: SCORE2, PREVENT, PCE, ASSIGN, FRS-hCHD, AusCVDRisk, MESA, QRISK3, and RRS. Materials and Methods: We performed a cross-sectional analysis of 11,174 adults aged 40–65 years with metabolic syndrome enrolled in the Lithuanian High Cardiovascular Risk primary prevention program (LitHiR) and evaluated them at a single tertiary center during 2006–2023. Statin eligibility was determined for each RPM using guideline-mapped treatment thresholds. Pairwise agreement was assessed using Cohen’s κ, Gwet’s AC1, Positive and Negative Percent Agreement (PPA/NPA), the Jaccard index, and McNemar testing. Analyses were repeated by sex. Consensus eligibility was defined as treatment recommended by at least k of nine models. Results: Eligibility varied more than twenty-fold, from 67.39% (7530/11,174) with SCORE2 to 3.03% (339/11,174) with AusCVDRisk; intermediate estimates included PREVENT at 44.83%, QRISK3 at 39.00%, and PCE at 37.97%. Overall pairwise agreement was modest: κ ranged from 0.03 (SCORE2 vs. AusCVDRisk) to 0.67 (QRISK3 vs. ASSIGN), with a median κ of 0.38 (IQR: 0.19–0.51). Median AC1 was 0.58 (IQR 0.37–0.68). Agreement was stronger for non-eligibility than for eligibility (median NPA: 0.82 vs. median PPA: 0.53). Consensus eligibility declined from 73.5% at k = 1 to 45.1% at k = 3, 30.0% at k = 5, and 1.87% at k = 9, with the greatest sex divergence at intermediate stringency. Conclusions: In this real-world cohort with elevated cardiometabolic risk, statin eligibility was highly dependent on RPM choice and showed only modest inter-model concordance. Increasing consensus stringency rapidly reduced eligibility, indicating that RPM selection and embedded thresholds substantially influence statin treatment decisions in primary prevention. Full article
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13 pages, 287 KB  
Article
Association of Peripapillary Retinal Nerve Fibre Layer Thickness with Disability and MRI Findings in Multiple Sclerosis: A Retrospective Single-Centre Cohort Study
by Ieva Vienažindytė, Kristė Kaikarytė, Vytautas Danielius, Ainė Žygaitė, Rasa Liutkevičienė and Renata Balnytė
Medicina 2026, 62(5), 904; https://doi.org/10.3390/medicina62050904 - 7 May 2026
Viewed by 221
Abstract
Background and Objectives: The goal of this study was to evaluate the associations between peripapillary retinal nerve fibre layer (pRNFL) thickness, disability-related clinical measures, including the Expanded Disability Status Scale (EDSS), and report-based magnetic resonance imaging (MRI) findings in patients with multiple sclerosis [...] Read more.
Background and Objectives: The goal of this study was to evaluate the associations between peripapillary retinal nerve fibre layer (pRNFL) thickness, disability-related clinical measures, including the Expanded Disability Status Scale (EDSS), and report-based magnetic resonance imaging (MRI) findings in patients with multiple sclerosis (MS), and to explore potential longitudinal relationships between pRNFL changes and disability progression. Materials and Methods: A retrospective single-centre study was conducted in patients with MS diagnosed according to the 2010/2017 McDonald criteria at the Neurology Clinic of the Hospital of Lithuanian University of Health Sciences Kauno Klinikos. The study included 84 patients. pRNFL thickness was measured using optical coherence tomography (OCT) at baseline (defined as the time of diagnosis) and, for some patients, follow-up. Associations between pRNFL measures and clinical as well as MRI-derived variables were assessed using Spearman correlation and multivariable linear and ordinal regression analyses. Results: In cross-sectional analyses, lower baseline pRNFL thickness was associated with higher baseline disability (ρ = −0.257, p = 0.019) and greater worsening of EDSS over time (ρ = −0.268, p = 0.013). Significant associations were also observed between thinner pRNFL and pyramidal system impairment and bowel/bladder dysfunction. In adjusted linear regression models, each 20 µm reduction in pRNFL was associated with a 0.46-point increase in EDSS (B = −0.023, SE = 0.009) and a 0.32-point rise in cerebellar functional system score (B = −0.016, SE = 0.006). Among the 45 patients with repeat OCT, exploratory longitudinal pRNFL thinning showed directional trends toward increasing disability; however, these associations were not consistently significant after adjustment. Baseline pRNFL thickness showed a modest association with a composite MRI regional lesion score derived from report-based binary variables. Conclusions: In this real-world retrospective cohort, thinner pRNFL was associated with greater disability in cross-sectional analyses. Associations with individual MRI regions and radiological activity were limited and inconsistent. These findings should be interpreted as preliminary and hypothesis-generating. Further prospective studies are needed to clarify the potential role of OCT-derived pRNFL measurements. Full article
(This article belongs to the Section Neurology)
11 pages, 270 KB  
Article
Cardiological Disorders Leading to Ineligibility for Compulsory Military Service
by Tautvydas Ribinskas, Tautvydas Rugelis, Eglė Labanauskaitė, Vilius Kviesulaitis, Vytautas Zabiela and Tomas Kazakevičius
Medicina 2026, 62(5), 802; https://doi.org/10.3390/medicina62050802 - 22 Apr 2026
Viewed by 577
Abstract
Background and Objectives: Cardiovascular disorders contribute substantially to medical ineligibility for compulsory military service in Lithuania. This study aimed to describe cardiovascular disease patterns and assess their association with military service eligibility among conscription-age individuals treated at a tertiary care center, considering [...] Read more.
Background and Objectives: Cardiovascular disorders contribute substantially to medical ineligibility for compulsory military service in Lithuania. This study aimed to describe cardiovascular disease patterns and assess their association with military service eligibility among conscription-age individuals treated at a tertiary care center, considering gender, place of residence, age, and the most common cardiovascular causes of medical ineligibility. Materials and Methods: This retrospective hospital-based study included men and women aged 18–26 years with cardiovascular disease diagnoses defined according to ICD-10 codes specified by the Order of the Minister of National Defense of the Republic of Lithuania. Anonymized medical records from the Hospital of the Lithuanian University of Health Sciences Kaunas Clinics were reviewed. Participants were categorized into four military service eligibility classes based on medical history data and were stratified by gender, age, and place of residence. Results: The study included 521 participants (56.6% male, 43.4% female). Gender and residence showed no significant impact on military service eligibility. Younger individuals, particularly those aged 18–19, were more often deemed eligible, while eligibility declined with age. Males more commonly had essential hypertension and hypertensive heart disease, whereas females more frequently presented with paroxysmal tachycardia and other arrhythmias. Hypertension and other severe cardiovascular conditions most strongly reduced eligibility for compulsory military service, whereas rhythm disorders were more often compatible with service. Conclusions: In this hospital-based cohort of conscription-age individuals with cardiovascular disease, gender and place of residence did not significantly influence eligibility for military service. Eligibility declined with increasing age, and hypertension-related cardiovascular disorders were the leading cause of ineligibility among conscripts. Full article
(This article belongs to the Section Cardiology)
12 pages, 1856 KB  
Article
Genetic Diversity and Clonal Structure of Small-Leaved Lime (Tilia cordata Mill.) in Lithuanian Protected Forest Areas
by Rita Verbylaitė, Jūratė Lynikienė, Artūras Gedminas, Valeriia Mishcherikova, Virgilijus Baliuckas and Vytautas Suchockas
Plants 2026, 15(8), 1207; https://doi.org/10.3390/plants15081207 - 15 Apr 2026
Viewed by 392
Abstract
Tilia cordata Mill. is a long-lived, ecologically important broadleaved tree species that maintains high genetic diversity despite habitat fragmentation and historical range shifts. In this study, we assessed genetic diversity, clonal structure, and population differentiation in six genetic conservation units (GCUs) in Lithuania [...] Read more.
Tilia cordata Mill. is a long-lived, ecologically important broadleaved tree species that maintains high genetic diversity despite habitat fragmentation and historical range shifts. In this study, we assessed genetic diversity, clonal structure, and population differentiation in six genetic conservation units (GCUs) in Lithuania using nuclear microsatellite markers. A total of 1109 individuals were successfully genotyped, revealing 979 unique multi-locus genotypes, with 17% of individuals assigned to clonal lineages. Clonal groups were generally small and spatially restricted, indicating localized vegetative regeneration. Genetic diversity was high across all populations, with similar levels of observed and expected heterozygosity, consistent with predominantly outcrossing reproduction. Juvenile cohorts exhibited slightly higher allelic richness and latent genetic potential compared to mature trees, suggesting effective regeneration and maintenance of genetic variation. Genetic differentiation among populations was low but significant (FST = 0.013; GST = 0.051), with evidence of clustering corresponding to provenance regions. High gene flow (Nm ≈ 10) likely contributes to weak population structure, although regional differentiation persists. The results demonstrate that Lithuanian T. cordata populations retain a robust genetic framework, combining high within-population diversity with moderate structuring. These findings highlight the importance of conserving multiple GCUs and implementing genetic monitoring to ensure long-term population viability under changing environmental conditions. Full article
(This article belongs to the Section Plant Genetics, Genomics and Biotechnology)
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11 pages, 560 KB  
Article
Obstetric Anal Sphincter Injuries: Risk Factors, Pelvic Floor Dysfunction, and Quality of Life Outcomes
by Kristina Ivoskaite, Atene Simanauskaite, Egle Bartuseviciene, Dalia Regina Railaite, Laima Maleckiene and Justina Kacerauskiene
Medicina 2026, 62(3), 433; https://doi.org/10.3390/medicina62030433 - 25 Feb 2026
Viewed by 907
Abstract
Background and Objectives: Obstetric anal sphincter injuries (OASISs) are severe complications of vaginal delivery that can result in long-term pelvic floor dysfunction and reduced quality of life. Global data indicate a rising incidence of OASISs, including in Lithuania. This study aimed to [...] Read more.
Background and Objectives: Obstetric anal sphincter injuries (OASISs) are severe complications of vaginal delivery that can result in long-term pelvic floor dysfunction and reduced quality of life. Global data indicate a rising incidence of OASISs, including in Lithuania. This study aimed to identify risk factors for OASISs and evaluate their impact on urinary (UI) and fecal incontinence (FI), pelvic organ prolapse (POP), and quality of life in affected women. Materials and Methods: A retrospective case–control study was conducted at the Lithuanian University of Health Sciences Hospital (LUHS) Kauno Klinikos in 2024. Women who gave birth between 2004 and 2023 and experienced OASIS (n = 90) were compared with women matched for birth history but without perineal tears (n = 90). Data were collected from medical records and electronic questionnaires, including the International Consultation on Incontinence Questionnaire—Short Form (ICIQ-SF), Wexner score, Pelvic Organ Prolapse Symptom Score (POP-SS), and Pelvic Floor Impact Questionnaire (PFIQ-7). Participants were grouped by delivery year (2004–2013 or 2014–2023). Statistical analysis was performed using Mann–Whitney U, Chi-square, Fisher’s exact and Student’s t-tests, with p < 0.05 considered significant. Results: Newborn weight and vacuum-assisted delivery were significantly associated with OASIS (p < 0.05 and p = 0.029). In the 2014–2023 cohort, women with OASIS reported significantly higher rates and severity of UI, FI, and POP symptoms compared to controls. Quality of life scores related to UI and FI were significantly worse in the recent OASIS group, whereas no significant differences were observed in the 2004–2013 cohort. Conclusions: Between 2004 and 2023, 0.4% of women who gave birth at LUHS experienced third- or fourth-degree perineal tears, with newborn weight and vacuum extraction identified as risk factors. These women reported higher rates of UI and FI and POP, and those who delivered between 2014 and 2023 rated their related quality of life significantly worse than women without OASIS. Full article
(This article belongs to the Section Obstetrics and Gynecology)
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14 pages, 564 KB  
Article
Hypertrophic Cardiomyopathy Genotype–Phenotype Analysis in Lithuanian Single-Center Cohort
by Marius Šukys, Eglė Ereminienė, Kristina Aleknavičienė, Rimvydas Jonikas, Eglė Tamulėnaitė-Stuokė, Joana Ažukaitė and Rasa Ugenskienė
Int. J. Mol. Sci. 2026, 27(1), 221; https://doi.org/10.3390/ijms27010221 - 25 Dec 2025
Viewed by 791
Abstract
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania’s tertiary care center. All patients with diagnosed [...] Read more.
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania’s tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%) received a genetic diagnosis. The most commonly affected genes were MYBPC3 and MYH7. Notably, two patients were found to have LEOPARD syndrome due to PTPN11 gene variants. Our results indicate that patients with an identified pathogenic variant were diagnosed with HCM at a younger age and exhibited a more severe phenotype (greater septal wall thickness), although no clear correlation with family history was observed. In addition, four novel MYBPC3 variants, c.3467dup, c.1503C>G, c.2610dup, and c.1251del, were identified. Full article
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13 pages, 256 KB  
Article
Functioning, Disability and Rehabilitation After Mild Infection in Concern to Previous Health Status: A Lithuanian Online Survey Study
by Dovilė Važgėlienė, Raimondas Kubilius and Indre Bileviciute-Ljungar
COVID 2025, 5(12), 201; https://doi.org/10.3390/covid5120201 - 2 Dec 2025
Viewed by 818
Abstract
Objective: To compare self-reported functioning, disability, and health care-seeking behavior of previously healthy and unhealthy participants after SARS-CoV-2 infection. Design: Cross-sectional design conducted in 2021–2022. Subjects/Patients: Participants 18 years or older were asked to participate in an anonymous survey after acute SARS-CoV-2 infection [...] Read more.
Objective: To compare self-reported functioning, disability, and health care-seeking behavior of previously healthy and unhealthy participants after SARS-CoV-2 infection. Design: Cross-sectional design conducted in 2021–2022. Subjects/Patients: Participants 18 years or older were asked to participate in an anonymous survey after acute SARS-CoV-2 infection (at least 28 days passed). Methods: The survey was conducted using an Internet-based questionnaire distributed through Lithuanian websites, including Facebook groups, city/town/district hospitals, and media outlets. Results: The final cohort consisted of 1945 participants, almost 90% being women with higher education and approximately 89% working at the time of survey. The mean age was 43 years. Among them, 53% reported to be healthy before SARS-CoV-2 infection and 5% were hospitalized during acute infection. Individuals with chronic diseases prior to infection rated their health status significantly lower but reported similar functional capacity before infection. After infection, they reported more restricted activities and more often sought health care due to remaining symptoms. In total, 16% of the cohort applied for rehabilitation services and only 7% were accepted, more often those with chronic diseases before infection. Conclusions: Results indicate a small proportion of participants receiving rehabilitation services, more often these with prior chronic diseases. The results increase awareness of rehabilitation needs after infection, particularly for previously unhealthy people. Full article
(This article belongs to the Special Issue How COVID-19 and Long COVID Changed Individuals and Communities 2.0)
19 pages, 1360 KB  
Article
Sleep Quality and Professional Burnout in Clinical Nurses: A Cross-Sectional Study
by Marius Baranauskas, Ingrida Kupčiūnaitė, Jurgita Lieponienė and Rimantas Stukas
Healthcare 2025, 13(21), 2727; https://doi.org/10.3390/healthcare13212727 - 28 Oct 2025
Viewed by 2855
Abstract
Background/Objectives: Healthcare workers often experience chronic psychological stress, which may affect up to 71% of nurses, leading to mental outcomes, namely, depressive symptoms and a chronic state of physical and emotional depletion followed by burnout syndrome. Emotional exhaustion, depersonalization and poor personal [...] Read more.
Background/Objectives: Healthcare workers often experience chronic psychological stress, which may affect up to 71% of nurses, leading to mental outcomes, namely, depressive symptoms and a chronic state of physical and emotional depletion followed by burnout syndrome. Emotional exhaustion, depersonalization and poor personal accomplishment are three core features responsible for the development of burnout. Given sleep quality as a mediator is likely to play a key role in forecasting the potential impingement of burnout both directly and indirectly, this cross-sectional study aimed to explore any possible association between sleep disorders and burnout in a cohort of Lithuanian clinical nurses. Methods: During a six-week period in October–November 2024, a total of 269 female nurses ranging between 22 and 67 years old were recruited for a cross-sectional study. The Pittsburgh Sleep Quality Index (PSQI) tool and the Maslach Burnout Inventory (MBI) were applied to assess the level of subjective sleep quality over the last month and the self-perceived occupational burnout experienced by clinical nurses, respectively. Results: This study highlighted a worrying proportion of nurses found to be at an increased risk of occupational burnout syndrome after more than 60% of nurses had experienced the symptoms of emotional exhaustion and depersonalization. A similar proportion of nurses was exposed to the risk of sleep disorders, which, as a potential trigger, played an important role in maintaining burnout syndrome. More specifically, the global PSQI score was related to the expression of depersonalization (β 0.5, 95% confidence interval (CI) 0.2; 0.9, p = 0.002, R2 = 0.27). The higher levels of both emotion exhaustion (β 2.5, 95% CI 1.5; 3.5, p < 0.001, R2 = 0.26) and depersonalization (β 1.9, 95% CI 0.8; 3.0, p = 0.001, R2 = 0.28) were associated with perceived daily disturbances (in terms of sleep disturbances and daytime dysfunction) in nurses. Conclusions: Healthcare professionals should focus further attention on reducing high-level depersonalization expression and potential risk factors, namely sleep disturbances and daytime dysfunction associated with this burnout symptom in a population of clinical nurses. Therefore, by targeted integration of efficient sleep interventions, healthcare institutions could promote employee-friendly workplaces, and, eventually, improve not only the indicators of burnout syndrome but also nurses’ performance and patient safety as well as satisfaction with perceived nursing care. Full article
(This article belongs to the Special Issue Mental Health of Healthcare Professionals)
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18 pages, 1471 KB  
Article
Is Chronic Whiplash-Associated Disorder Associated with Central Nervous System Impairments? A Controlled Observational Study in a Lithuanian Cohort
by Gintaute Samusyte, Jolita Ciceliene, Evelina Pajediene, Kestutis Stasaitis, Kestutis Petrikonis and Indre Bileviciute-Ljungar
J. Clin. Med. 2025, 14(17), 6222; https://doi.org/10.3390/jcm14176222 - 3 Sep 2025
Viewed by 1949
Abstract
Background/Objectives: The aim of this study was to investigate the natural course of a whiplash-associated disorder (WAD) in a Lithuanian population with low awareness of the condition. Methods: In this controlled observational study, 45 participants, enrolled during the acute period after [...] Read more.
Background/Objectives: The aim of this study was to investigate the natural course of a whiplash-associated disorder (WAD) in a Lithuanian population with low awareness of the condition. Methods: In this controlled observational study, 45 participants, enrolled during the acute period after motor vehicle accident, and 50 matched controls were followed up at 8 months. Clinical evaluation of WAD grades was combined with self-scored questionnaires for pain, WAD symptoms, disability, emotional state, and cognitive impairment. The Quebec Task Force Questionnaire was used to assess persistence or development of new symptoms at follow-up. Demographic and sick leave data were collected. Results: The WAD group showed a significant improvement in clinical signs and self-rated scores for pain and disability after 8 months and became largely comparable to the control group. However, only 13 out of 45 WAD participants were symptom-free at follow-up. Persistent neck pain and dizziness/unsteadiness as well as newly developed cognitive complaints were more frequent in the WAD group compared to controls, each reported by around a third of individuals. Logistic regression showed that new cognitive symptoms could be predicted by nausea/vomiting in the acute period and persisting neck pain at follow-up. None of the participants remained on sick leave at follow-up. Conclusions: In a country with low awareness of WAD, a larger proportion of individuals remain symptomatic months after acute whiplash injury but maintain their ability to work. The emergence of new cognitive complaints may suggest concomitant central nervous system involvement. Full article
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16 pages, 683 KB  
Article
Metabolic Syndrome Clusters and Arterial Stiffness: Unraveling Early Predictors of Cardiovascular Risk in a Follow-Up Study
by Agnė Jucevičienė, Ligita Ryliškytė, Jolita Badarienė and Aleksandras Laucevičius
J. Cardiovasc. Dev. Dis. 2025, 12(9), 332; https://doi.org/10.3390/jcdd12090332 - 29 Aug 2025
Cited by 2 | Viewed by 1460
Abstract
Background: The aim of this study was to assess the association between different metabolic syndrome (MetS) component clusters, arterial stiffness as measured by aortic pulse wave velocity (aPWV) and cardio-ankle vascular index (CAVI), and the incidence of major cardiovascular events during long-term follow-up. [...] Read more.
Background: The aim of this study was to assess the association between different metabolic syndrome (MetS) component clusters, arterial stiffness as measured by aortic pulse wave velocity (aPWV) and cardio-ankle vascular index (CAVI), and the incidence of major cardiovascular events during long-term follow-up. Methods: The prospective cohort study included 5307 participants with MetS, aged 40 to 64 years, who had no evident cardiovascular disease and were enrolled in the Lithuanian High Cardiovascular Risk primary prevention program. All participants were followed up for an average of 4.57 ± 2.74 years to monitor the occurrence of major cardiovascular events. Arterial stiffness was assessed using aPWV and CAVI measurements. The associations between different MetS component clusters, arterial stiffness, and cardiovascular outcomes were analyzed. Results: During the follow-up period, 3.34% of the subjects experienced a major cardiovascular event. Individuals meeting four MetS criteria had a higher risk of events compared to those meeting three. Elevated triglycerides and elevated glucose were each significantly associated with increased risk. Specific MetS combinations, particularly clusters involving WTHB (increased waist circumference [W], elevated triglycerides [T], decreased HDL cholesterol [H], and elevated blood pressure [B]), as well as WBG (waist circumference, blood pressure, and glucose [G]), were significantly associated with cardiovascular events. The cross-sectional analysis also revealed that arterial stiffness, assessed as aPWV, was significantly higher in subjects with the WBG, WTBG, and WTHBG clusters. Meanwhile, higher CAVI was associated with the WTBG cluster. In the logistic regression analysis, the presence of the following clusters was linked to more than twice increased odds for having extremely stiff arteries: WTBG (OR = 2.351) and WTHBG (OR = 2.201) for aPWV values above the 95th percentile (>11.3 m/s) and WTB (OR = 2.096) for CAVI values above the 95th percentile (>10.2). Conclusions: Our findings demonstrate that higher risk of CV events is associated with increased arterial stiffness and higher number of MetS components present, as well as with the presence of specific MetS components; in particular, increased levels of triglycerides and glucose. Furthermore, the cross-sectional analysis demonstrated that subjects with the unfavorable combination of MetS components, such as WTBG, WTHBG, and WTB, are more than twice as likely to have extremely stiff arteries. Full article
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13 pages, 365 KB  
Article
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families
by Agne Cerkauskaite-Kerpauskiene, Milda Navickaite, Judy Savige, Gabija Mazur, Deimante Brazdziunaite, Karolis Azukaitis, Gerda Slazaite, Arvydas Laurinavicius, Marius Miglinas, Vija Vainutiene, Rasa Strupaite-Sileikiene, Ausrine Misevice, Vaiva Mickeviciene and Rimante Cerkauskiene
Int. J. Mol. Sci. 2025, 26(15), 7639; https://doi.org/10.3390/ijms26157639 - 7 Aug 2025
Cited by 1 | Viewed by 2130
Abstract
Variants in COL4A3 and COL4A4 cause autosomal dominant and recessive Alport syndrome, yet data on their distribution and clinical expression in different populations remain limited. This study investigated genotype–phenotype correlations and the distribution of COL4A3/COL4A4 variants in a Lithuanian Alport syndrome [...] Read more.
Variants in COL4A3 and COL4A4 cause autosomal dominant and recessive Alport syndrome, yet data on their distribution and clinical expression in different populations remain limited. This study investigated genotype–phenotype correlations and the distribution of COL4A3/COL4A4 variants in a Lithuanian Alport syndrome cohort. A total of 221 individuals from Lithuania were analyzed for COL4A3 and COL4A4 variants using either next-generation sequencing or Sanger sequencing in order to assess variant distribution and associated clinical features. Only individuals with pathogenic, likely pathogenic, or uncertain significance variants were included. Fifty-two individuals (38 index cases) with pathogenic, likely pathogenic, or variants of uncertain significance were identified, as follows: forty-eight were heterozygous, four had autosomal recessive, and four had digenic Alport syndrome. COL4A3 variants were found in 9.5% (21/221) and COL4A4 in 17.6% (39/221). Among the 28 identified variants, 18 were novel. Glycine substitutions (n = 8) were the most frequent and associated with worse kidney outcomes and increased hearing abnormalities. Hematuria was diagnosed significantly earlier than proteinuria (p = 0.05). Most individuals with autosomal dominant Alport syndrome had normal kidney function (eGFR > 90 mL/min/1.73 m2), while those with autosomal recessive Alport syndrome had more severe disease. Kidney failure occurred in 2/4 (50%) autosomal recessive Alport syndrome and 2/48 (4%) autosomal dominant Alport syndrome cases. A significant inverse correlation was found between eGFR and age in proteinuric individuals (r = –0.737; p = 0.013). This study expands knowledge of Alport syndrome in the Lithuanian population and contributes novel variant data to the global Alport syndrome genetic database. Full article
(This article belongs to the Special Issue Molecular Mechanisms and Regulation in Chronic Kidney Diseases)
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12 pages, 965 KB  
Article
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients
by Urte Aliosaitiene, Rimante Cerkauskiene, Aleksandras Laucevicius, Migle Vilniskyte, Viktoras Sutkus, Antanas Mainelis, Birute Burnyte, Jurate Barysiene and Zaneta Petrulioniene
J. Cardiovasc. Dev. Dis. 2025, 12(5), 197; https://doi.org/10.3390/jcdd12050197 - 21 May 2025
Viewed by 1711
Abstract
Background and aims: Although familial hypercholesterolemia (FH) is a common congenital cause of elevated low-density lipoprotein cholesterol (LDL-C), it remains underdiagnosed and undertreated worldwide due to its inherent genetic heterogeneity. This study aimed to determine the prevalence of genetic variants in a Lithuanian [...] Read more.
Background and aims: Although familial hypercholesterolemia (FH) is a common congenital cause of elevated low-density lipoprotein cholesterol (LDL-C), it remains underdiagnosed and undertreated worldwide due to its inherent genetic heterogeneity. This study aimed to determine the prevalence of genetic variants in a Lithuanian patient cohort with clinically diagnosed FH and evaluate their possible clinical implications. Methods: A total of 172 patients were included in the retrospective analysis. The study population comprised males and females ranging from 0 to 85 years of age, with LDL-C levels exceeding 4.9 mmol/L in adults and 3.9 mmol/L in children. The subjects were divided into four groups according to the Dutch Lipid Clinic Network (DLCN) criteria (definite, probable, possible, and unlikely). Children were analyzed separately. Next-generation sequencing (NGS) has been chosen as the most appropriate technique for genetic testing. All identified variants were categorized into three groups: (1) pathogenic, (2) likely pathogenic, and (3) variants of uncertain significance. Subjects without detected variants were classified into group (4) No mutation. Results: Women were diagnosed with FH significantly later than men (p = 0.033). Genetic testing identified FH-causing variants in 41.86% of subjects, with 20.93% carrying pathogenic variants, 9.88% likely pathogenic, and 11.05% variants of uncertain significance (VUS). Frequently identified pathogenic variants were c.654_656del p.(Gly219del) in LDLR and c.10580G>A p.(Arg3527Gln) in APOB, which are both linked to the founder effect. Genetic testing led to a reassessment of Dutch Lipid Clinic Network scores, increasing the number of individuals classified as “Definite FH” by 86.2%. Conclusions: The increasing use of NGS in FH has enhanced diagnostic capabilities and suggests population-specific genetic patterns. However, it also increases VUS detection, for which reclassification rates are still low and require strenuous efforts. Moreover, despite the benefits of genetic testing, significant gender disparities remain and require further attention. Full article
(This article belongs to the Section Genetics)
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11 pages, 1102 KB  
Article
Comparative Analysis of Cardiac SPECT Myocardial Perfusion Imaging: Full-Ring Solid-State Detectors Versus Dedicated Cardiac Fixed-Angle Gamma Camera
by Gytis Aleksa, Paulius Jaruševičius, Andrė Pacaitytė and Donatas Vajauskas
Medicina 2025, 61(4), 665; https://doi.org/10.3390/medicina61040665 - 4 Apr 2025
Cited by 1 | Viewed by 3234
Abstract
Background and Objectives: Single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) is a well-established technique for evaluating myocardial perfusion and function in patients with suspected or known coronary artery disease. While conventional dual-detector SPECT scanners have limitations in spatial resolution and photon [...] Read more.
Background and Objectives: Single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) is a well-established technique for evaluating myocardial perfusion and function in patients with suspected or known coronary artery disease. While conventional dual-detector SPECT scanners have limitations in spatial resolution and photon detection sensitivity, recent advancements, including full-ring solid-state cadmium zinc telluride (CZT) detectors, offer enhanced image quality and improved diagnostic accuracy. This study aimed to compare the performance of Veriton-CT, a full-ring CZT SPECT system, with GE Discovery 530c, a dedicated cardiac fixed-angle gamma camera, in myocardial perfusion imaging and their correlation with coronary angiography findings. Materials and Methods: This was a prospective study that analyzed 21 patients who underwent MPI at the Department of Nuclear Medicine, Lithuanian University of Health Sciences, Kauno Klinikos. A one-day stress–rest protocol using 99mTc-Sestamibi was employed, with stress testing performed via bicycle ergometry or pharmacological induction. MPI was first conducted using GE Discovery 530c (GE Health Care, Boston, MA, USA), followed by imaging on Veriton-CT, which included low-dose CT for attenuation correction. The summed stress score (SSS), summed rest score (SRS), and summed difference score (SDS) were analyzed and compared between both imaging modalities. Coronary angiography results were retrospectively collected, and lesion-based analysis was performed to assess the correlation between imaging results and the presence of significant coronary artery stenosis (≥35% and ≥70% narrowing). Image quality and the certainty of distinguishing the inferior myocardial wall from extracardiac structures were also evaluated by two independent researchers with differing levels of experience. Results: Among the 14 patients included in the final analysis, Veriton-CT was more likely to classify MPI scans as normal (64.3%) compared to GE Discovery 530c (28.6%). Additionally, Veriton-CT provided a better assessment of the right coronary artery (RCA) basin, showing greater agreement with coronary angiography findings than GE Discovery 530c, although the difference was not statistically significant. No significant differences in lesion overlap were observed for the left anterior descending artery (LAD) or left circumflex artery (LCx) basins. Furthermore, the image quality assessment revealed slightly better delineation of extracardiac structures using Veriton-CT (Spectrum Dynamics Medical, Caesarea, Israel), particularly when evaluated by an experienced researcher. However, no significant difference was observed when assessed by a less experienced observer. Conclusions: Our findings suggest that Veriton-CT, with its full-ring CZT detector system, may offer advantages over fixed-angle gamma cameras in improving image quality and reducing attenuation artifacts in MPI. Although the difference in correlations with coronary angiography findings was not statistically significant, Veriton-CT showed a trend toward better agreement, particularly in the RCA basin. These results indicate that full-ring SPECT imaging could improve the diagnostic accuracy of non-invasive MPI, potentially reducing the need for unnecessary invasive angiography. Further studies with larger patient cohorts are required to confirm these findings and evaluate the clinical impact of full-ring SPECT technology in myocardial perfusion imaging. Full article
(This article belongs to the Section Cardiology)
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24 pages, 3252 KB  
Article
Development of Forest Tree Species Composition: Selected Results of the National Forest Inventory of Lithuania
by Raimundas Petrokas, Michael Manton, Gintaras Kulbokas and Milda Muraškienė
Plants 2025, 14(5), 667; https://doi.org/10.3390/plants14050667 - 21 Feb 2025
Cited by 3 | Viewed by 3648
Abstract
Forest development forms the foundation for the advancement of sustainable forest management that integrates the knowledge of natural and anthropogenic processes with ecological and biological insights. This study aims to emphasize the role of assisted natural regeneration and balanced forest development phases in [...] Read more.
Forest development forms the foundation for the advancement of sustainable forest management that integrates the knowledge of natural and anthropogenic processes with ecological and biological insights. This study aims to emphasize the role of assisted natural regeneration and balanced forest development phases in fostering closer-to-nature management approaches, contributing to resilient forest ecosystems capable of self-regulation and biodiversity support in the face of anthropogenic and climatic challenges. This study focuses on forest development in Lithuania based on five National Forest Inventories (NFIs) from 2002 to 2022. We examine the tree volume structure of the growing stock by stand type and forest type series from the point of view of stand age and forest development phases. This is performed by applying the standardized methodologies of the Lithuanian National Forest Inventory. Our analysis focuses on broader patterns derived from the selected NFI data rather than stand-level details. Our findings demonstrate that long-term observation of dynamic National Forest Inventories can aid in the development of closer-to-nature forest management methods for different forest type series. In order to implement the European Union’s strategy and policy for closer-to-nature forest management, we call for the use of “assisted succession” methods in commercial forests, promoting the formation of mixed-species forest stands with multi-cohort age profiles, including old-growth all-aged forest patches of >121 years. Full article
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18 pages, 1139 KB  
Article
Somatization and Body Composition: Findings from a Cross-Sectional Study on Non-Clinical Young Adults
by Marius Baranauskas, Ingrida Kupčiūnaitė, Jurgita Lieponienė and Rimantas Stukas
Healthcare 2025, 13(3), 304; https://doi.org/10.3390/healthcare13030304 - 2 Feb 2025
Viewed by 3608
Abstract
Background/Objectives: Lifestyle is a significant, common, and easily modifiable factor capable of increasing or reducing the risk of acquiring many diseases. Currently, there is a research gap as too little scientific attention has been focused on exploring the relationship between mental health and [...] Read more.
Background/Objectives: Lifestyle is a significant, common, and easily modifiable factor capable of increasing or reducing the risk of acquiring many diseases. Currently, there is a research gap as too little scientific attention has been focused on exploring the relationship between mental health and nutritional status in various populations. Moreover, the association between body composition and somatization has not been fully disclosed. Therefore, this study aimed to assess the associations of body composition with the symptomatology of somatization in an environmentally vulnerable sample of young adults. Methods: A single cross-sectional study included young non-clinical Lithuanian students (n = 1223) aged 21.7 ± 3.9. The body adiposity status of the study participants was estimated using both the body mass index (BMI) and the Body Adiposity Estimator (CUN-BAE) method. Fat-free mass was evaluated via the adjusted fat-free mass index equation (FFMIadj). The Patient Health Questionnaire (PHQ-15) was applied to assess the severity of the perceived symptoms of a somatic symptom disorder (SSD). Results: The CUN-BAE was considered to be a better predictor of adiposity than the BMI because 14.7% of females and 6.2% of males were interpreted as obese using the CUN-BAE, while the BMI equation identified participants as having a normal body weight. The highest rates of somatization were found in 18.6% of the cohort. Young adults with higher amounts of body fat mass (β: 0.050, 95% confidence interval (95% CI): 0.013; 0.084, p = 0.007) and lower FFMI are prone to a higher risk for developing somatization (β: −0.429, 95% CI: −0.597; −0.260, p < 0.001). Conclusions: Our study revealed that body composition is significantly related to multiple somatic complaints throughout a range of measurements. However, in contrast to the CUN-BAE tool, the BMI equation underestimated the relationship between body fat and mental health outcomes in young adults. Even though nutritional status along with targeted physical load, as the mediators, are likely to play a significant role in the maintenance of optimal body composition and mental health outcomes, healthcare providers are recommended to advise individuals to lower their body fat percentage and increase fat-free mass in order to reduce the risk of somatization. Full article
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