Comprehensive phenolic profiling and biological evaluation of Centaurea glastifolia L. (Asteraceae).

The present investigation focused on the comprehensive analysis of the phenolic profile of Centaurea glastifolia L. (Asteraceae) and the assessment of its diverse biological activities. Utilising LC-MS/MS, the phytochemical composition of the 70% methanol extract of Centaurea glastifolia (CG-ME) was thoroughly elucidated, revealing the presence of 30 distinct phytochemical compounds. Notably, major phenolic constituents identified in the extract included quinic acid, chlorogenic acid, luteolin-7-O-glucoside, kaempferol-3-O-glucoside, luteolin, and apigenin-7-O-glucoside. The antioxidant, antibacterial, antiproliferative, and cytotoxic activities of CG-ME were investigated. The CG-ME exhibited a moderate capacity for scavenging DPPH radicals (IC50: 50.05 ± 1.58 µg/mL) and FRAP (63.96 ± 0.39 mg TE/g extract), indicating a moderate level of antioxidant activity. Moreover, CG-ME demonstrated significant antiproliferative effects (GI50: 1.10 and 1.30 µg/mL) on cancer cells (C6 and HTC cancer cell lines, respectively) while displaying low cytotoxicity towards normal cells (LC50: >1000 µg/mL). In terms of antibacterial activity, CG-ME was found to be inactive against tested both Gram-positive and Gram-negative bacterial strains (MIC > 500 µg/mL). The extracts had a promising antiproliferative effect on C6, HeLa, and HT29 cancer cell lines with a less cytotoxic effect (10.5-14.2%) against normal cells.

Surgical management of congenital mitral stenosis in a patient with Kabuki syndrome.

Congenital mitral stenosis is a rare anomaly. We report successful surgical management of congenital mitral stenosis in a patient with Kabuki syndrome. A 15-month-old male with Kabuki syndrome was referred and echocardiography showed isolated congenital mitral stenosis. The valve was not repairable as it was showing severe stenotic features in multilevel fashion. Valve was replaced with mechanical valve. Postoperative course was uneventful without any rhythm problem and he has been doing well clinically during the 25 months follow-up with regular international normalized ratio checks.

Smoking's impact on pocket closure after nonsurgical periodontal treatment in relation to bleeding on probing.

OBJECTIVES: Our aim was to investigate the impact of smoking on pocket closure at six months after treatment of severe periodontitis, in relation to residual clinical inflammation. METHOD AND MATERIALS: The clinical records of deep pockets (probing depth≥6 mm, n=984) in 46 individuals with periodontitis were analyzed. Following baseline clinical assessments (plaque index, probing depth, clinical attachment level, and bleeding on probing), non-surgical periodontal treatment was performed. Clinical assessments were repeated at 2 and 24 weeks after periodontal therapy. A logistic regression model using generalised estimation equations (GEE) adapting the cluster robust standard errors was performed to investigate potential associations between bleeding on probing and pocket closure at post-treatment 24 weeks. RESULTS: Absence of bleeding at two weeks after non-surgical treatment related to pocket closure after six-months. Pockets that do not bleed neither at baseline nor two weeks (OR=2.7; P <.005) and pockets of non-smokers (OR=6.32; P <.001) and females (OR=1.79; P =.022) associated with pocket closure at six months. CONCLUSION: Pocket closure is associated with being a non-smoker and the absence of inflammation after non-surgical periodontal treatment, which indicates the importance of smoking cessation and inflammation control in achieving optimal clinical outcomes.

Fontan Completion in Adult Patients with Functionally Univentricular Hearts.

BACKGROUND: Although there are considerable amounts of data on the outcomes of pediatric patients who have undergone Fontan repair, little is known about having Fontan completed in adulthood. The study presented the midterm results of our unit's experience with the Fontan completion procedure in adult patients with functionally univentricular hearts. METHODS: Between 2014 and 2023, 16 adult patients underwent total cavopulmonary connection (TCPC) completion. Relevant information was retrospectively collected. RESULTS: Sixteen patients with a median age of 19 years (18-21 years) were included. Median arterial oxygen saturation was 76% (70-80.75%), and 62.5% of the patients were New York Heart Association (NYHA) Class III. The median mean pulmonary artery pressure was 14 mm Hg (9.5-14.5 mm Hg). Nine patients (56%) had heterotaxy syndrome, and the median time between the last operation and TCPC was 15.5 years (6.75-17.5 years). The median durations for bypass and cross-clamp were 160 minutes (130-201 minutes) and 120 minutes (84.5-137.5 minutes), consecutively. The postoperative course was straightforward in all. The median arterial oxygen saturation before discharge was 89.5% (85-90%), and 68.75% of the patients were NYHA Class II. Follow-up was complete for all patients with a median of 24 months. There was no early or late mortality or significant morbidity during the study period. CONCLUSION: We concluded that the intra-extracardiac Fontan technique was feasible for meticulously selected adults undergoing TCPC completion, as evidenced by an acceptable mortality rate and a satisfactory midterm outcome, including improvements in their NYHA functional class. However, the long-term consequences must be monitored.

Comprehensive phytochemical analysis of Salvia hispanica L. callus extracts using LC-MS/MS.

In this research, the study utilized the root, leaf, and petiole parts of in vitro grown Salvia hispanica plants as explants. Following UV-C treatment applied to developing callus, methanol extracts were obtained and analyzed using liquid chromatography-mass spectrometry (LC/MS) to investigate their anticancer properties. First, the seeds of S. hispanica were soaked in commercial bleach for 6 min to ensure surface sterilization. The most effective antimicrobial activity on Gram-negative bacteria, with a zone diameter (11 ± 0.82 mm), was noticed in callus extracts obtained from the petiole explant in the second protocol against Klebsiella pneumoniae EMCS bacteria. Anticancer activities on SH-SY5Y human neuroblastoma cells were investigated by using 1000, 500, 250, 125, 62.5, 31.25, 15.62, and 78.12 µg/mL doses of the extracts, and the most effective cytotoxic activity was determined at the 1000 µg/mL dose of the extracts obtained from both protocols. The extracts were determined to inhibit hCAI, hCAII, AChE, and BChE enzymes. The content of 53 different phytochemical components of the extracts was analyzed by liquid chromatography with tandem mass spectrometry (LC-MS/MS). Rosmarinic acid, quinic acid, and caffeic acid were found in the highest concentration. The comprehensive LC-MS/MS analysis of S. hispanica extracts revealed a diverse array of phytochemical compounds, highlighting its potential for therapeutic applications.

Can the efficacy of a medical treatment be predicted based on the type of idiopathic premature ventricular contraction?

BACKGROUND: Premature ventricular contractions (PVCs) are common arrhythmias with diverse clinical implications. This retrospective study aimed to evaluate the efficacy of medical treatments using various clinical, imaging, and electrocardiographic parameters in patients with idiopathic PVCs. METHODS: A total of 1051 patients with idiopathic PVCs were retrospectively analyzed. Patients were categorized into three groups based on treatment response: beta-blocker (BB) responders (479 patients), calcium-channel blocker (CCB) responders (335 patients), and class 1c antiarrhythmic (AA) responders (237 patients). Clinical, imaging, and electrocardiographic data were collected and analyzed to assess the factors influencing treatment response. RESULTS: Age, left ventricular ejection fraction (LVEF), PVC QRS duration, CI variability, and multiple PVC morphologies were identified as significant factors affecting treatment response. Older age and lower LVEF were associated with better response to BB treatment, whereas CCB responders showed narrower QRS complexes. BB responders also exhibited higher CI variability, possibly linked to automaticity mechanisms. Moreover, the BB responder group had a higher frequency of multiple PVC morphologies. CONCLUSION: These findings emphasize the importance of tailored treatment approaches based on individual patient characteristics.

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Introduction: Smith-Lemli-Opitz syndrome (SLOS), a genetic developmental disorder characterized by various congenital anomalies, arises from a loss of normal DHCR7 enzymatic action in cholesterol biosynthesis. This syndrome is typically marked by various congenital anomalies, including microcephaly with cognitive impairments, distinctive facial features, and syndactyly of the toes (2-3 fusion). Case Presentation: A 73-year-old woman, followed up on by the neurology clinic for the last 3 years for amnesia and movement disorders, was referred to our clinic for genetic etiology investigation. Although there were no significant dysmorphic findings on her physical examination, observations included partial syndactyly between the second and third toes of both feet, a wide forehead, and a triangular face. We used the whole-exome sequencing (WES) analysis to evaluate the patient because of their various phenotype, which included dysmorphic features, movement problems, recurrent hip dislocation, mild intellectual impairment. WES analysis revealed a homozygous missense c.1295A>G (p.Tyr432Cys) variation in DHCR7 gene. Discussion: A total of 9 patients with p.Tyr432Cys variant have been reported in the literature so far. The present case is the first patient with biallelic c.1295A>G (p.Tyr432Cys) variation in DHCR7 gene in the current literature. Diagnosing the disorder can be challenging, particularly in its milder manifestations, given the extensive range of clinical presentations. The present case is the oldest patient with SLOS reported in the relevant literature. Mild dysmorphic features, mild intellectual disability, and recurrent hip dislocation, along with the typical finding of syndactyly between the second and third toes in the foot, may indicate mild forms of SLOS.

Anti-Cataract Effect of the Traditional Aqueous Extract of Yerba Mate (Ilex paraguariensis A. St.-Hil.): An In Ovo Perspective.

INTRODUCTION: The therapeutic effect of different doses of the traditional aqueous extract of dried leaves of yerba mate (Ilex paraguariensis A. St.-Hil.) was investigated in an experimental cataract model in chicken embryos. METHODS AND RESULTS: LC-MS/MS analysis allowed the identification and quantification of 53 metabolites. In the hydrocortisone-induced cataract model, lenses were examined morphologically after treatment and parameters related to oxidative stress (total antioxidant/oxidant status (TAS/TOS), glutathione (GSH), and malondialdehyde (MDA)) were evaluated. Antiproliferative cell nuclear antigen (PCNA) and caspase-3 H-scores were determined and crystallin alpha A (CRYAA) gene expression in the lenses was measured by RT-PCR. The degree of cataract decreased in all treatment groups. While there was no significant difference in TAS levels compared to the negative control, TOS, GSH, and MDA levels were dose-dependently regulated. Treatment groups other than the high-dose group regulated the decrease in PCNA and the increase in caspase-3. CRYAA gene expression increased significantly only at the lowest dose. CONCLUSION: YM, which is becoming increasingly popular as a traditional tea, showed a therapeutic effect on hydrocortisone-induced cataracts in chicken embryos at relatively low doses.

Evaluation of Hedera species as herbal medicine raw materials.

This study aimed to evaluate the potential of Hedera colchica as an alternative to Hedera helix species for the treatment of mild inflammatory conditions of the upper respiratory tract and chronic inflammatory bronchial diseases. The H. colchica extract with the highest saponin content (C3S; 468.19 ± 16.01 mg HE/g dry weight) and the extract with the highest total phenol content (C1F; 108.60 ± 5.61 mg GAE/g dry weight). Chemical analysis and standardisation of the extract with the highest selective COX-2 inhibitory effect was performed using the LC-MS/MS technique. It was determined that the substances found in the highest ratio in the C1F extract were quinic acid (45.909 µg/g extract) and hesperidin (37.077 µg/g extract). As a result, secondary metabolites, in addition to saponins, found in Hedera species may also contribute to the extract's effectiveness, more potent extracts can be obtained compared to the total extract-containing preparations available in the market.

Definition, detection, and tracking of nanowaste in foods: Challenges and perspectives.

Commercial applications of nanotechnology in the food industry are rapidly increasing. Accordingly, there is a simultaneous increase in the amount and diversity of nanowaste, which arise as byproducts in the production, use, disposal, or recycling processes of nanomaterials utilized in the food industry. The potential risks of this nanowaste to human health and the environment are alarming. It is of crucial significance to establish analytical methods and monitoring systems for nanowaste to ensure food safety. This review provides comprehensive information on nanowaste in foods as well as comparative material on existing and new analytical methods for the detection of nanowaste. The article is specifically focused on nanowaste in food systems. Moreover, the current techniques, challenges as well as potential use of new and progressive methods are underlined, further highlighting advances in technology, collaborative efforts, as well as future perspectives for effective nanowaste detection and tracking. Such detection and tracking of nanowaste are required in order to effectively manage this type ofwasted in foods. Although there are devices that utilize spectroscopy, spectrometry, microscopy/imaging, chromatography, separation/fractionation, light scattering, diffraction, optical, adsorption, diffusion, and centrifugation methods for this purpose, there are challenges to be overcome in relation to nanowaste as well as food matrix and method characteristics. New technologies such as radio-frequency identification, Internet of things, blockchain, data analytics, and machine learning are promising. However, the cooperation of international organizations, food sector, research, and political organizations is needed for effectively managing nanowaste. Future research efforts should be focused on addressing knowledge gaps and potential strategies for optimizing nanowaste detection and tracking processes.

[Seroprevalence and Risk Factors of Hepatitis B, C and D in Adults in Trabzon, Türkiye]. / Trabzon'da 20 Yas Üstü Eriskinlerde Hepatit B, Hepatit C ve Hepatit D Seroprevalansi ve Risk Faktörleri.

Viral hepatitis are infections that can cause liver damage, become chronic, lead to cirrhosis, hepatocellular carcinoma and ultimately result in death due to their ability to spread in the community through blood and infected body fluids. The aim of this study was to determine the seroprevalence of hepatitis B (HBV), hepatitis C (HCV), and hepatitis D (HDV) transmitted through blood among individuals living in Trabzon province and to examine the factors potentially associated with seroprevalence. This cross-sectional study was conducted in Trabzon province, located in the northeast of Türkiye, including a total of 10 districts, including the central district. Since seroprevalence was calculated for HBV, HCV, and HDV in the study, the sample size was separately calculated for each, and the calculated maximum sample size of 1116 was accepted as the minimum sample size for the study. The study was completed with 1502 participants. Serological tests for HBV included HBsAg, anti-HBs, and anti-HBc IgG; for HCV, anti-HCV; and for HDV, anti-HDV were analysed. Data were evaluated for HBV risk factors using univariate analyses with Chi-square test and for multiple analyses using enter model logistic regression analysis. The mean age of the participants was 45.7 ± 16.6 years, with 767 (51.1%) being female. The prevalence of HBV seropositivity, indicating vaccination, was 23.0%, while the seroprevalence of HBV among unvaccinated adults was 27.4%. HBsAg positivity was 5.1%, and isolated anti-HBc IgG positivity was 4.2%. The proportion of individuals with HBsAg in the gray zone was 0.5%, while the positivity rates for anti-HBs and anti-HBc IgG (indicating past infection) were 17.6%. The prevalence of anti-HCV was six per thousand, while anti-HDV was not detected in the analyses. HBsAg positivity and co-infection with HCV were found in one person, and among the nine individuals positive for anti-HCV, isolated anti-HBc IgG positivity was detected in three. Increasing age, presence of a person with jaundice in the family, presence of diabetes mellitus, alcohol use and cupping therapy were identified as risk factors for HBV in the logistic regression analysis. Risk factors for HCV in univariate analyses were being over 40 years old, presence of hepatic steatosis and receiving dialysis treatment. The results of the study indicate that despite being included in our vaccination schedule and the administration of vaccines to high-risk adults, HBV still requires intensive attention as a public health problem. HCV, lacking a vaccine has been evaluated as an infectious agent that needs to be taken into consideration due to its potential risks and requires the complete implementation of individual and social precautions.

Levosimendan: efficacy and safety in pediatric heart failure treatment.

OBJECTIVE: The objective of this study was to assess the effectiveness and safety of levosimendan as an alternative treatment for pediatric patients with decompensated heart failure unresponsive to conventional inotropes and to emphasize its role in enhancing cardiovascular stability. METHODS: A total of 15 pediatric patients with decompensated heart failure, stemming from acute fulminant myocarditis (53.3%) and post-congenital heart disease surgery complications (46.7%), received levosimendan. The evaluation focused on adverse effects, respiratory support requirements, and concurrent inotropic medication use during levosimendan treatment. Key cardiovascular parameters were assessed at 0, 6, 12, and 24 h post-levosimendan infusion. RESULTS: Levosimendan administration significantly improved key cardiovascular metrics. Left ventricular ejection fraction increased notably from 45±14.8% to 58±15.6% at 24 h (p<0.001). Systolic and diastolic blood pressures rose significantly, with systolic increasing from 79 (68-90) to 98 (89-109) mmHg and diastolic from 47 (40-57) to 66 (54-76) mmHg by 24 h (p<0.001). Heart rate decreased from 162 (111-175) to 132 (99-148) bpm (p=0.02), and lactate levels significantly decreased from 4.15 (2.3-6.5) to 1.85 (0.8-2.6) mmol/L within 6 h (p<0.001). CONCLUSION: Levosimendan demonstrates its significance in managing pediatric heart failure, indicating its safety and potential to enhance cardiac outcomes by reducing reliance on traditional inotropes.

Antityrosinase activity and LC-MS/MS analysis of optimized ultrasound-assisted condition extracts and fractions from strawberry tree (Arbutus unedo L.).

Investigation of utilization possibilities of natural sources has been an important area for research. Tyrosinase inhibitory activity plays a key role in food and medicine industry. Strawberry tree (Arbutus unedo), a widely distributed plant among Mediterranean countries, possess fruits and leaves with rich bioactive phytochemicals, especially polyphenolic compounds. In this study, we aimed to investigate the antityrosinase activity of the fruit and leaf extracts of the plant, and to determine the phenolic compounds that contribute to the antityrosinase activity. In this regard, we evaluated the effect of solvent composition on the extraction of phenolic compounds from A. unedo and on its antityrosinase activity using a simplex centroid design approach, and used chromatographic and LC-MS/MS techniques. The leaf extracts prepared using EtOH:water (50:50) provided higher TPC (456.39 mg GAE/g extract) and acetone:EtOH:water (33:33:33) provided higher TFC (56.15 mg QE/g extract) values than of fruit extracts. LC-MS/MS analysis revealed 23 phenolic/flavonoid compounds in leaf extracts (L1-8), and major metabolites were detected as quercitrin, quinic acid, catechin, tannic acid, isoquercitrin, gallic acid, and ellagic acid. Among the leaf extracts, L3 (aceton:water, 50:50) exhibited 72.01% tyrosinase inhibition at 500 µg/mL. After fractionation studies guided by antityrosinase activity, its subfraction L3-Fr2 exhibited 40.06% inhibition at 50 µg/mL concentration (IC50: 146 ± 7.75 µg/mL), and catechin (113.19 mg/g), tannic acid (53.14 mg/g), ellagic acid (22.14 mg/g), gallic acid (10.27 mg/g), and epicatechin gallate (8.65 mg/g) were determined as major metabolites. Its subfraction L3-Fr2-sub7 exhibited better antityrosinase activity (IC50: 206.23 ± 9.87 µg/mL), and quantitative analysis results revealed the presence of tannic acid (127.40 mg/g), gallic acid (13.96 mg/g), ellagic acid (7.66 mg/g), quercetin-3-O-glucuronide (5.06 mg/g), and quinic acid (3.2 mg/g) as major metabolites, and correlation analysis showed that ellagic acid and quinic acid were positively correlated with antityrosinase activity.

Associations between neurological soft signs, executive functions, and brain-derived neurotrophic factor in boys with attention-deficit hyperactivity disorder.

Background: To determine the association between neurological soft signs, executive functions, and serum brain-derived neurotrophic factor (BDNF) levels in children with attention-deficit hyperactivity disorder (ADHD). Methods: Serum BDNF levels were measured in 87 drug-naive boys with ADHD, aged 7-12 years. The Revised Physical and Neurological Examination for Subtle Signs for neurological soft signs, Stroop Color-Word Test for attention functions, and Judgment of Line Orientation Test (JLOT) for visuospatial abilities were performed. Results: Age correlated negatively with dysrhythmia, total time, and total overflow in timed movements, Stroop Color-Word Time (SCWT), and serum BDNF levels. The JLOT significantly negatively correlated with Total Gaits and Stations (P1) and Total Time in Timed Movements (adjusted R 2 = 0.247). In addition, SCWT maintained a significant correlation with Total Overflow in Timed Movements (adjusted R 2 = 0.206). There was no correlation between serum BDNF levels and NSS. Conclusion: The association between NSS, visuospatial abilities, and selective attention may express a maturational delay in ADHD pathophysiology. Moreover, BDNF may play a role in this maturational delay. Future studies should investigate the contribution of BDNF to neuronal maturation in ADHD.

Phytochemical profile, enzyme inhibition, antioxidant, and antibacterial activity of Rosa pimpinellifolia L.: A comprehensive study to investigate the bioactivity of different parts (whole fruit, pulp, and seed part) of the fruit.

The pharmaceutical and nutraceutical potentials of whole fruit, pulp and seeds of Rosa pimpinellifolia L. were evaluated. Forty-two phenolic compounds and two triterpenoids were identified in extracts by LC-MS/MS and GC-MS, respectively. The most prominent compounds were ellagic acid, catechin, epicatechin, tannic acid, quercetin, oleanolic acid, and ursolic acid. The highest enzyme inhibitory activities of the extracts (94.83%) were obtained against angiotensin-converting enzyme and were almost equal to those of the commercial standard (lisinopril, 98.99%). Whole fruit and pulp extracts (IC50:2.47 and 1.52 µg DW/mL) exhibited higher antioxidant capacity than the standards (α-tocopherol, IC50:9.89 µg DW/mL). The highest antibacterial activity was obtained against Bacillus cereus (MIC: 256 µg/mL) for the whole fruit extract. Correlation analyses were conducted to find the correlation between individual phenolics and enzyme inhibitory activities. The results showed the remarkable future of not only the edible part but also the seeds of black rose hips in phytochemical and functional aspects.

Dual fluorescence response of calix[4]arene-1,8-naphthalimide derivatives towards Hg(II) /Cr(VI) and their antimicrobial studies of transparent biofilms with hyaluronic acid.

In this study, 4-sulfo-1,8-naphthalimide calixarene of derivatives were prepared (3 and 4) then transparent biofilms of the Ag salts of these compounds were formed in the presence of hyaluronic acid (HA), and antimicrobial properties were investigated. In chemosensor studies, the sensing ability behavior of 3 and 4 towards some cations and anions was investigated by fluorescence spectroscopy. It was observed that the prepared chemosensors show selectivity towards Hg(II) and Cr(VI). Ligand-ion interaction occurs according to the photo-induced electron transfer (PET) mechanism. The stoichiometric ratio was calculated by using Stern-Volmer plot method and binding constant Ksv values were found as 5.2 × 107 M-1 and 5.5 × 107 M-1 for 3-Hg(II) and 4-Hg(II) complexes, respectively and 4.0 × 107 M-1 and 4.3 × 107 M-1 for 3-Cr(VI) and 4-Cr(VI) complexes. The detection limits of the complexes of 3-Hg(II) and 4-Hg(II) are 6.35 × 10-12and 6.81 × 10-12, while those of 3-Cr(VI) and 4-Cr(VI) are 1.41 × 10- 11and 8.37 × 10-12, respectively. As a result of the antimicrobial test performed with these compounds, it was observed that the most effective material was HA-3Ag, which showed a significant antibacterial effect against Sarcina lutea (S. lutea) at a minimum inhibitory concentration (MIC) value of 0.097 mg/mL.

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high-penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow-up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis of patients are defined as secondary findings (SF). The aim of this study was to examine the frequency and variant spectrum of cancer-related SF in 2020 Turkish ES data and to discuss the importance of the presence of cancer-related SF in at-risk family members in terms of genetic counseling and follow-up. A total of 2020 patients from 2020 different families were evaluated by ES. SF were detected in 28 unrelated cases (1.38%), and variants in BRCA2 (11 patients) and MLH1 (4 patients) genes were observed most frequently. A total of 21 different variants were identified, with 4 of them (c.9919_9932del and c.3653del in the BRCA2 gene, c.2002A>G in the MSH2 gene, c.26_29del in the TMEM127 gene) being novel variations. In three different families, c.1189C>T (p.Gln397*) variation in BRCA2 gene was detected, suggesting that this may be a common variant in the Turkish population. This study represents the largest cohort conducted in the Turkish population, examining the frequency and variant spectrum of cancer-related SF. With the identification of frequent variations and the detection of novel variations, the findings of this study have contributed to the variant spectrum. Genetic testing conducted in family members is presented as real-life data, showcasing the implications in terms of counseling, monitoring, and treatment through case examples.

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase 11 (STK11) gene. However, mosaic variants in STK11 gene have been rarely described. A 25-year-old woman diagnosed with PJS due to multiple hamartomatous polyps in the gastrointestinal tract was referred to our clinic. In the molecular diagnosis, the patient was evaluated using the STK11 gene sequence analysis and multiplex ligation-dependent probe amplification (MLPA) method, which suggested no pathogenic variant to account for the clinical picture. Given that the clinical findings of the patient were consistent with those of PJS, the raw data from next-generation sequencing (NGS) were re-examined for mosaicism which led to the detection of a novel mosaic c.920 + 1G > T variant in STK11 gene with a rate of 23% (1860x). Deep read-level NGS was performed on buccal mucosa and polyp samples to determine mosaicism levels in other tissues. Variant frequencies were 29% (710x) and 31% (1301x), respectively. Mosaicism should be considered in cases with clear clinical diagnostic criteria, such as PJS, where the pathogenic variant cannot be detected by sequence analysis and MLPA methods. Identification of mosaicism in these patients is very important as it can have an impact on patient follow-up and genetic counseling for relatives.