Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.

BACKGROUND: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant diseases. FH causes a lifelong increase in low-density lipoprotein cholesterol (LDL-C) levels, which in turn leads to atherosclerotic cardiovascular disease. The incidence of FH is widely underestimated and undertreated, despite the availability and effectiveness of lipid-lowering therapy. Patients with FH have an increased cardiovascular risk; therefore, early diagnosis and treatment are vital. To address the burden of FH, several countries have implemented national FH screening programmes. The currently used method for FH detection in Lithuania is mainly based on opportunistic testing with subsequent cascade screening of index cases' first-degree relatives. METHODS: A total of 428 patients were included in this study. Patients with suspected FH are referred to a lipidology center for thorough evaluation. Patients who met the criteria for probable or definite FH according to the Dutch Lipid Clinic Network (DLCN) scoring system and/or had LDL-C > = 6.5 mmol/l were subjected to genetic testing. Laboratory and instrumental tests, vascular marker data of early atherosclerosis, and consultations by other specialists, such as radiologists and ophthalmologists, were also recorded. RESULTS: A total of 127/428 (30%) patients were genetically tested. FH-related mutations were found in 38.6% (n = 49/127) of the patients. Coronary artery disease (CAD) was diagnosed in 13% (n = 57/428) of the included patients, whereas premature CAD was found in 47/428 (11%) patients. CAD was diagnosed in 19% (n = 9/49) of patients with FH-related mutations, and this diagnosis was premature for all of them. CONCLUSIONS: Most patients in this study were classified as probable or possible FH without difference of age and sex. The median age of FH diagnosis was 47 years with significantly older females than males, which refers to the strong interface of this study with the LitHir programme. CAD and premature CAD were more common among patients with probable and definite FH, as well as those with an FH-causing mutation. The algorithm described in this study is the first attempt in Lithuania to implement a specific tool which allows to maximise FH detection rates, establish an accurate diagnosis of FH, excluding secondary causes of dyslipidaemia, and to select patients for cascade screening initiation more precisely.

Early Atherosclerosis in Familial Hypercholesterolemia Patients: Significance of Vascular Markers for Risk Stratification.

BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that manifests as impaired low-density lipoprotein cholesterol (LDL-C) metabolism, resulting in lifelong exposure to high cholesterol levels and increased risk of cardiovascular disease (CVD). There is heterogeneity in cardiovascular risk for FH patients, so risk stratification is of utmost importance. The aim of this study was to evaluate the impact of increases in LDL-C and the impact of other CVD risk factors on vascular markers in the FH patient population. METHODS: A total of 428 patients were included in this study and divided into two groups according to age: ≤40 years in the first group and ≥41 years in the second group. Vascular markers of atherosclerosis included the common carotid artery (CCA) intima-media thickness (IMT), pulse wave velocity (PWV), flow-mediated dilation (FMD), ankle-brachial index (ABI), and cardio-vascular index (CAVI). The influence of traditional CVD risk factors on atherosclerotic changes in vascular markers was analyzed. RESULTS: A statistically significant difference in IMT was detected between the same sex and different age groups (p < 0.001), whereas no significant difference was detected between the sexes within each age group. In the ≤40-year-old group, the mean IMT among males was 612.5 µm (±88.2) and that among females was 580.6 µm (±77.7) (p > 0.05); in the ≥41-year-old group, the mean IMT was 697.4 µm (±138.4) for males and 700.3 µm (±114.4) for females (p > 0.05). Higher LDL-C was associated with greater IMT (r = 0.405; p = 0.009) in the younger age group (≤40 years); however, in the older age group (≥41 years), this correlation was not evident (r = -0.07; p = 0.596). Carotid plaque formation was more common among males (OR = 2.2; 95% CI: 1.2-4.0) and hypertensive patients (OR = 2.7; 95% CI: 1.6-4.7). Age was a mildly significant risk factor for increased ABI (ß = 0.13, p < 0.05). FMD was found to be impaired for all patients, and no risk factors were shown to have further influence. Age was a significant risk factor for increased arterial stiffness, as measured by both the CAVI and PWV. CONCLUSIONS: Although vascular markers of atherosclerosis may provide a unique and valuable way to evaluate cardiovascular risk, the results of this study show that only increased IM thickness could be beneficial for risk stratification in young FH patients, whereas other vascular markers of atherosclerosis would be excessive, as they do not provide merit in risk evaluation in this population.

Associations between Atopic Dermatitis and Behavior Difficulties in Children.

Background and Objectives: There has been increasing evidence that atopic dermatitis (AD) is associated with behavioral difficulties (BDs). There is currently a lack of evidence of how the severity of the disease determines BDs and what additional factors may contribute to their manifestation. The aim is to determine what kind of BDs occur in children with AD compared to healthy children and to find out what additional factors may contribute to the development of BDs in AD patients. Materials and Methods: This is a cross-sectional, prospective study with the application of a risk assessment instrument for behavior difficulties (Child Behavior Checklist, CBCL 6/18) in pediatric patients with AD and healthy controls (6-17 years) between 1 January 2020 and 31 December 2022. For statistical comparison, mainly Wilcoxon-Mann-Whitney and Student's t-test were used, considering a significance level of 5%. Results: This study included a total of 101 children: 48% with AD, 52% non-AD. The mean age was 10 ± 2.7 years for AD, and10.5 ± 3.1 years for the control patients. AD patients had higher internal behavior scale scores and T-scores (6.6 ± 6.4 vs. 9.6 ± 6.9 and 47.9 ± 9.5 vs. 52.3 ± 10.2, p = 0.01), anxiety/depression scale score and T-score (2.8 ± 2.7 vs. 4.3 ± 3.5 and 47.7 ± 8.4 vs. 52.5 ± 11, p = 0.02), and somatic problems scale score and T-score (2.1 ± 2.3 vs. 3.5 ± 3 and 47.6 ± 8.5 vs. 52.7 ± 10.9, p = 0.005). Patients with severe AD had sleep disturbance and itching scores higher than those with mild-moderate AD (5.4 ± 2.6 vs. 2.4 ± 2.2, p = 0.000 and 6.6 ± 2.4 vs. 4 ± 2.8, p = 0.001). The mean morning serum cortisol concentration was lower in AD patients compared to controls (252.91 ± 304.34 vs. 351.55 ± 126.09 nmol/L, p = 0.047). Conclusions: Children with AD present a higher risk of BDs than healthy controls. Patients with severe AD experience more sleep disturbances and a greater intensity of itching compared to mild-moderate AD. The occurrence of BDs was not related to serum cortisol levels. The cortisol level, severity, age, gender, duration of illness, intensity of pruritus, and sleep disturbance did not affect the development of BDs.

The Burden of Pediatric Atopic Dermatitis: Quality of Life of Patients and Their Families.

(1) Background: Atopic dermatitis (AD) is one of the most common inflammatory skin conditions, thus having a significant impact on the quality of life (QoL) of patients and their families. We performed a survey to gather more data to help describe the burden of AD in Lithuania and to help expand the treatment plan to this important aspect of the disease. (2) Methods: A cross-sectional study was conducted involving healthy and AD pediatric patients. The assessment instruments used were the Patient-Oriented Eczema Measure (POEM), QoL, and original questionnaires (the original questionnaire was designed by the authors to determine the demographics, medical history, and treatment methods of the respondents). (3) Results: This study included 302 participants in total: 247 AD patients (51% boys) and 55 non-AD patients (51% boys). The mean age for AD patients was 6.8 ± 4.4. years, and this was 10.5 ± 3.1 years for the control patients. A significant difference was found between the QoL questionnaire scores and the Family Dermatology Life Quality Index (FDLQI) score for the atopic dermatitis group (QoL: 6.3 ± 5.6; FDLQI: 7.1 ± 6.9) and controls (QoL 0.5 ± 1.1; FDLQI 2.1 ± 5.9) (p = 0.000). The mean QoL questionnaire score for severe AD was 14.3 ± 6.2 (very large effect), that for moderate AD was 6.9 ± 4.4 (moderate effect), and that for mild AD was 4.4 ± 4.2 (small effect) (p = 0.000). (4) Conclusions: Our study revealed a moderate effect of AD on dermatology-related QoL in patients and their families. It has been shown that increased disease severity was associated with a greater impairment of QoL in both patients and patient's parents. The burden of AD in children and their parents is considerable and should be taken into account in the management of atopic dermatitis.

Three-dimensional analysis of the tricuspid annular geometry in healthy subjects and in patients with different grades of functional tricuspid regurgitation.

BACKGROUND: Accurate sizing of the tricuspid valve annulus is essential for determining the optimal timing of tricuspid valve (TV) intervention. Two-dimensional (2D) echocardiography has limitations for comprehensive TV analysis. Three-dimensional (3D) imaging of the valve provides a better understanding of its spatial anatomy and enables more accurate measurements of TV structures. OBJECTIVES: The study aimed to analyze tricuspid annulus (TA) parameters in normal heart and in different grades of functional tricuspid regurgitation (TR); to compare TA measurements obtained by 2D and 3D echocardiography. METHODS: One hundred fifty-five patients (median age 65 years, 57% women) with normal TV and different functional TR grades underwent 2D and 3D transthoracic echocardiography. The severity of TR was estimated using multiparametric assessment according to the guidelines. Mid-systolic 3D TA parameters were calculated using TV dedicated software. The conventional 2D systolic TA measurements in a standard four-chamber view were performed. RESULTS: In mid-systole, the normal TA area was 9.2 ± 2.0 cm2 for men and 7.4 ± 1.6 cm2 for women. When indexed to body surface area (BSA), there were no significant differences in the 3D parameters between genders. The 2D TA diameters were smaller than those measured in 3D. The ROC curve analysis identified that all 3D TA parameters can accurately differentiate between different functional TR grades. Additionally, the optimal cut-off values were identified for each TA parameter. CONCLUSIONS: Gender, body size, and age have an impact on the TA parameters in healthy subjects. 2D measurements are smaller than 3D parameters. The reference values for 3D metrics according to TR severity can help in identifying TA dilation and distinguishing between different functional TR grades.

The Early Effects on Tricuspid Annulus and Right Chambers Dimensions in Successful Tricuspid Valve Bicuspidization.

BACKGROUND: It is unclear to what degree of tricuspid annulus (TA) reduction is necessary to achieve good postoperative results in surgical bicuspidization. The study aimed to evaluate TA and right heart chamber's dimensions before and after heart surgery; and to compare TA parameters assessed by different modalities. METHODS: Forty patients underwent mitral valve surgery with or without concomitant tricuspid valve (TV) bicuspidization. Preoperative and postoperative measurements of TA dimensions were performed prospectively using two-dimensional (2D) and three-dimensional (3D) transthoracic echocardiography (TTE). Additionally, preoperative transesophageal echocardiography (TOE) was performed in the operating room prior to surgery. RESULTS: All patients had no or mild TR immediately after surgery. There was a significant reduction in 2D and 3D parameters of the TV and right chambers in the TV bicuspidization group. However, TV leaflets' tethering parameters did not change significantly. Preoperative 3D TTE measurements were smaller than those obtained through 3D TOE in the operation room, before surgery under general anesthesia. The 2D systolic apical 4Ch diameter and the parasternal short axis diameter mainly represent the 3D minor axis of the TA and are smaller than its 3D major axis. CONCLUSIONS: Although bicuspidization results in a one-third reduction of the TV area, tethering of the TV leaflets remains unchanged. Moreover, 3D TOE parameters of the TV under general anesthesia are larger than preoperative 3D TTE measurements. Conventional 2D measurements are insufficient for evaluating the maximum diameter of the TA.

Lymphocyte Subsets and Pulmonary Nodules to Predict the Progression of Sarcoidosis.

The search for biological markers, which allow a relatively accurate assessment of the individual course of pulmonary sarcoidosis at the time of diagnosis, remains one of the research priorities in this field of pulmonary medicine. The aim of our study was to investigate possible prognostic factors for pulmonary sarcoidosis with a special focus on cellular immune inflammation markers. A 2-year follow-up of the study population after the initial prospective and simultaneous analysis of lymphocyte activation markers expression in the blood, as well as bronchoalveolar lavage fluid (BALF) and lung biopsy tissue of patients with newly diagnosed pulmonary sarcoidosis, was performed. We found that some blood and BAL fluid immunological markers and lung computed tomography (CT) patterns have been associated with a different course of sarcoidosis. We revealed five markers that had a significant negative association with the course of sarcoidosis (worsening pulmonary function tests and/or the chest CT changes)-blood CD4+CD31+ and CD4+CD44+ T lymphocytes, BALF CD8+CD31+ and CD8+CD103+ T lymphocytes and a number of lung nodules on chest CT at the time of the diagnosis. Cut-off values, sensitivity, specificity and odds ratio for predictors of sarcoidosis progression were calculated. These markers may be reasonable predictors of sarcoidosis progression.

Age as a Risk Factor in the Occurrence of Complications during or after Bronchoscopic Lung Biopsy.

INTRODUCTION: Bronchoscopic lung biopsy (BLB) is a widely used procedure. As the world's population is ageing, more BLBs are performed for older people with comorbidities. The aim of the study was to investigate if an older age is a risk factor for BLB related complications. MATERIALS AND METHODS: A prospective study at the Centre of Pulmonology and Allergology of Vilnius University Hospital Santaros klinikos was conducted. Seven hundred and eighty-six patients (male 60.6%), mean age 57 ± 16, who underwent BLB, were included. The complications that occurred due to BLB were evaluated. Bleeding and pneumothorax were classified into I° or II° grades depending on their severity. Potential determinants, which may increase the risk of complications, emphasizing on age, were analyzed. RESULTS: Fifty-seven (7.2%) BLB-related complications occurred. There were 27 (3.4%) pneumothoraxes, and 19 (70%) of them required thoracic drainage. Thirty (3.8%) bleeding complications occurred, and four (16%) of them were severe. Higher rates of bleeding were found in the age group ≥65 years, p = 0.001. The risk of bleeding in older patients was 3.2 times higher (95% CI 1.51-6.87). CONCLUSIONS: Older age is related to a higher incidence of mild bleeding during BLB. However, the risk of life-threatening complications is low despite the age, and older age should not be considered as a contraindication for the procedure if needed.

Tissue Coagulation in Laser Hemorrhoidoplasty - An Experimental Study.

BACKGROUND: Laser hemorrhoidoplasty (LHP) is a new technique for treatment of hemorrhoids. The exact extent of coagulation is not visible at the time of the procedure. There currently is no experimental or clinical data on the subject. OBJECTIVE: To evaluate the length of coagulation defect according to power and activation time of 1470nm diode laser on the perianal tissue model. METHODS: Fresh anorectal tissue of twenty-four pigs was used to produce 54 experimental samples. Each sample was randomly assigned to the laser power of 6, 8 and 10 W and 1, 2 or 3-second pulses. The procedure was performed using Biolitec Ceralas © diode laser with 1.85 mm optical fiber. The fiber was inserted in a manner, similar to intrahemorrhoidal laser application. Samples were evaluated using low-power and high-power light microscopy by a single pathologist. The length of tissue injury was measured on high-magnification microscopy. RESULTS: The longest tissue injury (mean 3.93 mm) was caused by the longest laser exposure time (3 sec) with no significant difference between laser power used. CONCLUSIONS: 8 W 3-second application of the 1470nm diode laser results in coagulation area approximately 4 mm, and further coagulation should be initiated approximately 5 mm from the first one.

Trends in cardiovascular risk factor prevalence among Lithuanian middle-aged adults between 2009 and 2018.

BACKGROUND AND AIMS: The aim of the study was to estimate trends and differences in cardiovascular disease (CVD) risk factor prevalence among middle-aged men and women based on the data from the Lithuanian High Cardiovascular Risk (LitHiR) primary prevention program between 2009 and 2018. METHODS: A community-based cross-sectional study included men aged 40-54 years and women aged 50-64 years without overt CVD. Nationally representative data comprised 110,370 Lithuanian adults (42.4% men and 57.6% women) examined in the period 2009-2018. Prevalences of major CVD risk factors, such as dyslipidaemia, arterial hypertension, diabetes mellitus, obesity, metabolic syndrome and smoking, were assessed. RESULTS: The study showed a significant drop in the prevalence of dyslipidaemia and TC levels among men (p = 0.030 and p < 0.001) and no significant change among women (p = 0.594 and p = 0.799). The prevalence of AH significantly decreased in both gender groups (p < 0.001 in women and p < 0.001 in men). Obesity rates declined among women while it remained constant among men (p < 0.001 and p = 0.100 respectively). There was a significant decline among women and a significant increase among men in the prevalence of metabolic syndrome (p < 0.001 and p = 0.016 respectively). The prevalence of diabetes increased until 2013, after which it started decreasing in the whole group (p = 0.005). The study showed a significant increase in the percentage of smoking women (p < 0.001), although the number of smoking men remained much higher (about 40%) (p < 0.001). CONCLUSIONS: In our observational study, we have documented a high prevalence of all CVD risk factors in 2009 with a slight decrease during the period in most prevalence rates, except in dyslipidaemia and smoking levels.

Results of the double-blind randomized controlled trial comparing laser hemorrhoidoplasty with sutured mucopexy and excisional hemorrhoidectomy.

PURPOSE: To compare the results of laser hemorrhoidoplasty (LHP), excisional hemorrhoidectomy (EH), and sutured mucopexy (MP). METHODS: A randomized, parallel-group, double-blinded, single-center prospective study. PATIENTS: Symptomatic 2nd- or 3rd-degree hemorrhoids patients. INTERVENTIONS: Computer randomization sequence, patient blinding, operating surgeon blinding, and surgeon-evaluator blinding. LHP was performed using a 1470 nm diode laser. Up to 250 J of energy delivered per 1 hemorrhoid. The procedure was performed circumferentially. MP ligations were placed in the area of visible hemorrhoidal tissue. Standard EH was performed up to the level of the hemorrhoidal pedicle. Follow-up at 1 and 6 weeks and 1 year. OUTCOME MEASURES: Recurrence of symptoms requiring treatment, intensity, and duration of pain after the operation, patients' quality of life, fecal incontinence, and patients' evaluation of treatment. RESULTS: A total of 121 patients. Groups were even preoperatively. LHP took 15 min (SD 5.6), MP took 16 min (SD 5.58), and EH took 29 min (SD 10.3). Recurrence requiring treatment rate was 0% after EH, 10% after LHP, and 22% after MP, p = 0.004. LHP and MP were less painful than EH, p < 0.001. Patients after LHP returned to regular activity after 15 days, after MP after 22 days, and after EH after 30 days, p < 0.001. SF-36 scores were better after EH. Symptoms of fecal incontinence improved in all the groups. Patients evaluate LHP better than EH and MP. LIMITATIONS: Single-center study. CONCLUSIONS: Laser hemorrhoidoplasty is a safe, minimally invasive option for hemorrhoids, more effective than MP and less effective than EH. Patients evaluate this technique better than the other two.

Factors Influencing Quality of Life during the First Trimester of Pregnancy: A Prospective Cohort Study.

Introduction: Pregnancy, delivery and postpartum periods are associated with fast changesleading to decreased self-confidence, anxiety, stress or even maternal depression impairing theirquality of life (QOL). Although considered important, QOL of women during pregnancy is poorlyunderstood. The aim of our study was to assess factors influencing QOL during first trimester ofpregnancy. The secondary goal of our study was to evaluate whether QOL during first trimester ofpregnancy is associated with newborn weight. Materials and methods: A prospective cohort studywas performed including pregnant women during the first trimester visit. Our questionnaireconsisted of the SF-36 QOL questionnaire, Wexner fecal incontinence scale, and other additionalinformation. The SF-36 questionnaire mental (MCS) and physical (PCS) health scores were used inorder to evaluate QOL of women during first trimester of pregnancy. Two multiple logisticregression models were created in order to determine independent variables that influence the QOL.Results: 440 pregnant women were included in the study. The two main domains that were used inthe study were MCS and PCS, their medians were 50.0 (25.0; 50.0) and 50.1 (39.4; 59.0) pointsrespectively. From the two logistic regression models we determined several independent factorsthat influence QOL of women during the first trimester of pregnancy. Additionally, we determinedthat women who reported worse QOL tended to give birth to newborns large for their gestationalage. Conclusions: We found several significant variables that influence QOL of women during thefirst trimester of pregnancy. We also found that that lower MCS and PCS scores during the firsttrimester are associated with newborns large for gestational age.

Trends in Cigarette Smoking among Middle-Aged Lithuanian Subjects Participating in the Primary Prevention Program between 2009 and 2016.

Background and Objectives: The aim of the study was to evaluate trends in smoking among middle-aged men and women based on the data from the Lithuanian High Cardiovascular Risk (LitHiR) primary prevention program between 2009 and 2016. Materials and Methods: A community-based cross-sectional study comprised 92373 Lithuanian adults (41.6% men and 58.4% women). We compared the prevalence of smoking, smoking cessation activity and smoking intensity by gender and age groups. Results: There was a statistically significant upward trend in the number of smoking subjects (average annual percent change (AAPC) 2.99%, p < 0.001). The number of smoking male subjects remained much higher than the number of smoking female subjects during the 2009-2016 period. The study showed a significant increase in the percentage of smoking quitters in the whole group (AAPC 7.22%, p < 0.001) and among men and women separately. There was no significant change in smoking intensity in groups of male and female smokers separately. Conclusions: The analysis showed that the prevalence of smoking in Lithuania is still increasing due to women smoking despite all the governmental tobacco control efforts to reduce it.