Janonytė, Ugnė

Transtiretino amiloidinė kardiomiopatija (ATTR-CM) yra reta ir pavojinga širdies liga, kurią lemia nestabilaus transtiretino (TTR) baltymo kaupimasis miokardo tarpląstelinėje erdvėje. Ši liga gali būti susijusi su genetine mutacija (ATTRv) arba atsirasti dėl amžinių pokyčių (ATTRwt). Liga dažnai pasireiškia nespecifiniais simptomais, imituojančiais kitas širdies patologijas, todėl diagnozė dažnai nustatoma pavėluotai, atsiradus sunkiai ligos formai. Šiuo metu ATTR-CM terapinis planas apima simptominį ir ligos eigą modifikuojantį gydymą. Nors specifinis transtiretino stabilizatorius tafamidis šiuo metu yra vienintelis ATTR-CM gydymui patvirtintas vaistas, naujos alternatyvios terapijos, tokios kaip TTR koduojančių RNR slopikliai ir genų redagavimo sistemos, turi perspektyvą. Jų ilgalaikis poveikis dar tyrinėjamas.

This case report describes an 84-year-old woman with critical aortic stenosis and NSTEMI, presenting with dyspnea and signs of heart failure. Diagnostic findings included ECG changes, elevated troponin and BNP, and significant coronary artery stenosis requiring PCI. Management was complicated by multiple cardiac arrests, respiratory failure, ventilator-associated pneumonia caused by multi-drug-resistant organisms, and acute renal failure. Following stabilization and TAVI, arrhythmias persisted, requiring antiarrhythmic treatment. This case highlights the complexity of managing acute coronary syndromes in patients with severe aortic stenosis, showing the importance of early diagnosis, timely revascularization, multidisciplinary care and tailored infection management.

Background and Objectives: To our knowledge, this is the first case–control study conducted in the Baltic countries that identified CM risk factors focusing on the investigated subjects’ phenotypic traits, severe sunburns, sunscreen and tanning bed use. Materials and Methods: This study analyses 180 subjects with CM (case group) and 182 randomly selected controls. All participants completed surveys about sun exposure habits and skin phototype (I–IV) according to the Fitzpatrick scale. Skin, eye, and hair colour, number of freckles, and melanocytic nevi greater than 2 mm in diameter (MN > 2 mm) on sites with maximal, intermittent, and minimal sun exposure were examined. Results: We determined five risk factors that significantly increased the odds ratio of CM (OR; 95% confidence interval): tanning bed use compared to non-use (6.46; 1.89–22.96), lack of sunscreen use compared to regular use (7.41; 2.88–19.09), and fair skin compared to medium and olive skin (2.06; 1.03–4.09). The probability of CM also increased with each instance of severe sunburn (2.57; 1.96–3.38) and with each additional MN > 2 mm in sun-exposed areas (1.05; 1.03–1.07). Conclusions: The results of this case–control study offer novel insights into modifiable risk factors for CM, highlighting potential targets for primary prevention strategies in the Baltic countries’ population, with dominant fair phenotypic traits of skin, eye, and hair colour.

Background. Hidradenitis suppurativa is a chronic inflammatory skin disease marked by immune dysregulation and elevated pro-inflammatory cytokines. While biologics like adalimumab target specific pathways, their limited efficacy highlights the need for broader immunomodulatory treatments. Mesenchymal stem/stromal cells (MSCs) have shown promise due to their immunosuppressive properties and ability to modulate both innate and adaptive immunity. This study investigates the effects of naïve (n-MSCs) and cytokine-preactivated (a-MSCs) placental MSCs on the immune responses in HS.

Methods. MSCs were isolated from healthy term placentas and either used naïvely or preactivated with IFN-γ and TNF-α. Peripheral blood mononuclear cells (PBMCs) from HS patients (n=3) and healthy donors (n=3) were co-cultured with n-MSCs, a-MSCs, or adalimumab. Additionally, lesional, perilesional, and healthy 4 mm in diameter skin punch biopsies from 10 HS patients and 3 controls were cultured in a transwell system with the same interventions. Flow cytometry assessed lymphocytes proliferation and T cell subsets while Luminex assays measured cytokine levels.

Results. Both n-MSCs and a-MSCs significantly inhibited lymphocytes proliferation and shifted T cell populations, increasing CD4+ and decreasing CD8+ T cells. The a-MSCs notably reduced IL-17A and IFN-γ in PBMC co-cultures; n-MSCs had partial effects. HS skin explants exhibited elevated IL-1β, IL-10, and IL-17A compared to healthy skin. The n-MSCs markedly reduced all three cytokines in lesional and perilesional tissues. Moreover, a-MSCs selectively increased IL-10 in lesional skin.

Conclusion. Placental MSCs, especially in their naïve form, demonstrate potent immunomodulatory effects by reducing pro-inflammatory cytokines and altering T cell dynamics in HS. Compared to adalimumab, MSCs offer a broader immunoregulatory profile, suggesting their potential as a multitarget therapy for HS. These findings support further clinical investigation of MSC-based treatments in managing this complex disease.

We present a case of a 46-year-old man who was referred to the cardiology clinic for evaluation due to complaints of elevated blood pressure, dyspnea, and chest pain during physical activity for the past four months. The patient had coronavirus disease (COVID-19) five months ago. After the infection, he felt persistent fatigue, restless sleep, and difficulty breathing during physical activity for several months, but this condition gradually improved. Transthoracic echocardiography and magnetic resonance imaging were performed. Late gadolinium-enhanced imaging revealed subepicardial fibrosis limited to the basal and mid segments of the inferior and posterior walls of the left ventricle. This enhancement pattern was interpreted as non-ischemic in aetiology, suggestive of prior myocarditis, potentially related to COVID-19 infection. The patient was started on antihypertensive treatment, and as per the last follow-up, the patient’s blood pressure remained well-controlled, with no other complaints. This case highlights the potential myocardial damage in COVID-19 survivors, highlighting the importance of post-viral cardiac assessment.

Introduction and Objectives: We conducted a case-control study in Lithuania to elucidate risk factors of cutaneous melanoma (CM).

Materials and methods: This study analyzed 180 subjects with CM, sourced from the Hospital of the LSMU Kauno klinikos database, and 182 controls randomly selected from the Lithuanian Population Register in Kaunas City. Subject selection is published in our previous study (Semeklis et al., 2024). All participants underwent dermatological examination and completed surveys on personal/family history of skin cancer and sun exposure habits over the five years preceding the diagnosis of CM. We assessed skin type based on the Fitzpatrick scale as well as eye/hair color. Melanocytic nevi (MN) and freckles were counted using a standardized protocol from our previous studies (Kontautiene et al., 2015; Valiukeviciene et al., 2005). MN were categorized into groups based on sun exposure: maximal (face, neck, hands, ears, and shoulders), intermittent (chest, subscapular/lumbar regions, abdomen, outer upper arms, thighs, calves, and feet), and minimal (scalp, buttocks, armpits, inner forearms, palms, and soles). Variables between the CM subjects and the control group were compared using the chi-squared test, Student's t-test, or the Mann-Whitney U-test. Binary logistic regression model with backward elimination was used to determine statistically significant risk factors for the prognosis of CM. Model fit data: the goodness-of-fit test (χ2 = 197.348, p<0.001), Nagelkerke's R2 = 0.618, and the Hosmer-Lemeshow test (χ2 = 11.577, p = 0.171) correctly classified 78.3% of CM cases and 87.5% of controls.

Results: Mean age (M = 59.5, SD = 12.51 vs. M = 57.5, SD = 7.94) and sex (females: 62.1% vs. 62.8%) did not differ significantly (p = 0.075 and p = 0.892) between the CM subjects and the control group. The model revealed 5 risk factors that significantly increased the odds ratio of CM (OR; 95% confidence interval): tanning bed use vs. nonuse (6.46; 1.89–22.96), lack of sunscreen use vs. regular use (7.41; 2.88–19.09), and fair skin vs. medium/olive skin (2.06; 1.03–4.09). The probability of CM also increased with each instance of sunburn (2.57; 1.96–3.38) and with each additional MN >2 mm in sun-exposed areas (1.05; 1.03–1.07).

Conclusions: This is the first case-control study conducted in the Baltic Countries that identified CM risk factors in Lithuania, including tanning bed use, lack of sunscreen, high sunburn frequency, and melanocytic nevi in sun-exposed areas, highlighting the need for targeted prevention strategies.

Introduction and Objectives: We conducted a case-control study in Lithuania to elucidate risk factors of cutaneous melanoma (CM).Materials and methods: This study analyzed 180 subjects with CM, sourced from the Hospital of the LSMU Kauno klinikos database, and 182 controls randomly selected from the Lithuanian Population Register in Kaunas City. Subject selection is published in our previous study (Semeklis et al.,2024). All participants underwent dermatological examination and completed surveys on personal/family history of skin cancer and sun exposure habits over the five years preceding the diagnosis of CM. We assessed skin type based on the Fitzpatrick scale as well as eye/hair color. Melanocytic nevi (MN) and freckles were counted using a standardized protocol from our previous studies (Kontautiene et al.,2015; Valiukeviciene et al., 2005). MN were categorized into groups based on sun exposure: maximal (face, neck,hands, ears, and shoulders), intermittent (chest, subscapular/lumbar regions, abdomen, outer upper arms, thighs,calves, and feet), and minimal (scalp, buttocks, armpits,inner forearms, palms, and soles). Variables between the CM subjects and the control group were compared using the chi-squared test, Student’s t-test, or the Mann-Whitney U-test. Binary logistic regression model with backward elimination was used to determine statistically significant risk factors for the prognosis of CM. Model fit data: the goodness-of-fit test (χ2 = 197.348, p<0.001), Nagelkerke’s R 2 = 0.618, and the Hosmer-Lemeshow test (χ2 = 11.577, p= 0.171) correctly classified 78.3% of CM cases and 87.5% of controls. Results: Mean age (M = 59.5, SD = 12.51 vs. M = 57.5,SD = 7.94) and sex (females: 62.1% vs. 62.8%) did not differ significantly (p = 0.075 and p = 0.892) between the CM subjects and the control group. The model revealed 5 risk factors that significantly increased the odds ratio of CM (OR; 95% confidence interval): tanning bed use vs.non use (6.46; 1.89–22.96), lack of sunscreen use vs. regular use (7.41; 2.88–19.09), and fair skin vs. medium/olive skin (2.06; 1.03–4.09). The probability of CM also increased with each instance of sunburn (2.57; 1.96–3.38) and with each additional MN >2 mm in sun-exposed areas (1.05;1.03–1.07). Conclusions: This is the first case-control study conducted in the Baltic Countries that identified CM risk factors in Lithuania, including tanning bed use, lack of sunscreen, high sunburn frequency, and melanocytic nevi in sun-exposed areas, highlighting the need for targeted prevention strategies.

Background Post-myocardial infarction ventricular septal defect (VSD) occurs in 0.2% of acute myocardial infarction cases (Giblett et al., 2022). While surgery is the standard treatment, the optimal timing for closure remains debated due to high mortality rates (Damluji et al., 2021). Some experts advocate early surgery to prevent cardiogenic shock, while others argue that a delayed approach allows for better clinical and tissue conditions (Magro et al., 2023). Case Report An 83-year-old male with worsening chest pain since the night before arrived at the emergency department. On examination, he was hemodynamically stable. His medical history included long-term smoking, hypertension, prostate cancer, and a prior ischaemic stroke. Electrocardiography (ECG) results were consistent with an inferior ST-elevation myocardial infarction (STEMI). Laboratory results showed elevated high-sensitivity troponin I (7344.5 ng/L), brain natriuretic peptide (639.5 ng/L), dyslipidemia, stable renal function, and normal electrolyte levels. The patient was administered treatment for STEMI as per protocol before admission to the cardiac intensive care unit. Coronary angiography revealed significant stenosis in the proximal right coronary artery. Thus, percutaneous coronary intervention was performed, with embolisation of the posterior descending artery requiring additional heparin therapy. Post-procedure, the patient admitted that his chest pain had started a week prior rather than the previous day, prompting a clinical reassessment. Echocardiography revealed a hemodynamically significant oblique VSD at the junction of the inferior wall and septum, with high-flow shunting into the right ventricle. Surgical repair was delayed for 18 days to optimise surgical outcome. Preoperatively, the patient had renal insufficiency that improved with treatment, along with anxiety and insomnia requiring psychotropic medication. The VSD was repaired using continuous sutures and a Teflon strip to approximate the right septal wall. Postoperatively, the patient developed cardiogenic shock and acute kidney injury but stabilised within a week. No significant residual shunting was detected with transesophageal echocardiography. The patient is currently undergoing rehabilitation. Conclusions While early surgical repair for post-myocardial VSD is commonly recommended, a delayed approach can also lead to favorable outcomes. Ultimately, a patient-tailored strategy is required for optimal management of this high-risk clinical scenario.

Background Introduction and Objectives: We conducted a case-control study in Lithuania to elucidate risk factors of cutaneous melanoma (CM). Methods This study analyzed 180 subjects with CM, sourced from the Hospital of the LSMU Kauno klinikos database, and 182 controls randomly selected from the Lithuanian Population Register in Kaunas City. Subject selection is published in our previous study [1]. All participants underwent dermatological examination and completed surveys on personal/family history of skin cancer and sun exposure habits over the five years preceding the diagnosis of CM. We assessed skin type based on the Fitzpatrick scale as well as eye/hair color. Melanocytic nevi (MN) and freckles were counted using a standardized protocol from our previous study [2]. MN were categorized into groups based on sun exposure: maximal (face, neck, hands, ears, and shoulders), intermittent (chest, subscapular/lumbar regions, abdomen, outer upper arms, thighs, calves, and feet), and minimal (scalp, buttocks, armpits, inner forearms, palms, and soles). Variables between the CM subjects and the control group were compared using the chi-squared test, Student’s t-test, or the Mann-Whitney U-test. Binary logistic regression model with backward elimination was used to determine statistically significant risk factors for the prognosis of CM. Model fit data: the goodness-of-fit test (χ2=197.348, p<0.001), Nagelkerke’s R2=0.618, and the Hosmer-Lemeshow test (χ2=11.577, p=0.171) correctly classified 78.3% of CM cases and 87.5% of controls. Results Mean age (M=59.5, SD=12.51 vs. M=57.5, SD=7.94) and sex (females: 62.1% vs. 62.8%) did not differ significantly (p=0.075 and p=0.892) between the CM subjects and the control group. The model revealed 5 risk factors that significantly increased the odds ratio of CM (OR; 95% confidence interval): tanning bed use vs. nonuse (6.46; 1.89–22.96), lack of sunscreen use vs. regular use (7.41; 2.88–19.09), and fair skin vs. medium/olive skin (2.06; 1.03–4.09). The probability of CM also increased with each instance of sunburn (2.57; 1.96–3.38) and with each additional MN >2 mm in sun-exposed areas (1.05; 1.03–1.07). Conclusions This is the first case-control study conducted in the Baltic Countries that identified CM risk factors in Lithuania, including tanning bed use, lack of sunscreen, high sunburn frequency, and melanocytic nevi in sun-exposed areas,highlighting the need for targeted prevention strategies.

Introduction Mastocytosis – is a rare disorder characterized by excessive proliferation and accumulation of abnormal mast cells in tissues. It can present as cutaneous mastocytosis (CM), involving only the skin, or as systemic mastocytosis (SM), affecting extracutaneous tissues [1]. Affecting 1 in 10,000 people, adult-onset CM is rare and often indicates systemic involvement, comprising less than 5% of adult cases [2–3]. Case Presentation A 67-year-old female with a two-year history of confirmed CM presented with an exacerbation characterised by facial flushing, eye irritation/redness, pruritic rash on extremities and torso, as well as joint pain. The patient was currently taking Cetirizine 10 mg q.d. for the treatment of CM. Previous therapies included topical corticosteroids, calcineurin inhibitors, antihistamines, PUVA and UVB. There was no evidence of SM found during previous hospitalisations. Last known serum tryptase level – 22 ng/mL. Due to the disease's widespread nature, the patient was hospitalized in the Department of Skin and Venereal Diseases. Examination revealed pink and brownish-blue nodules and papules with erythema on the chest, trunk, forearms, and thighs, and a positive Darier's sign. The face was erythematous with visible telangiectasias. Local treatment with Loratidine 10 mg b.i.d., Dexamethasone 0.005% cream b.i.d. and PUVA phototherapy baths (N4) with a cumulative dose of 1.6 J/cm² were applied, resulting in improved skin condition. The patient was re-evaluated for SM; the haematologist determined that no further tests were needed, the rheumatologist found no autoimmune joint disease, and the abdominal ultrasound showed no SM-related abnormalities. After completing the treatment plan, the patient was discharged for further outpatient care. Discussion No large randomized controlled trials have evaluated therapies for CM; current treatment recommendations rely on data from small case series and expert opinion [4]. CM management is symptom-focused, with antihistamines, topical corticosteroids, and phototherapy being effective options [5]. Conclusions This case highlights the importance of an interdisciplinary team in treating adult-onset CM. Although this form of mastocytosis typically has a benign prognosis, continuing monitoring of disease progression and symptom management are crucial.