Turkish Journal of Medical Sciences最新文献

Background/aim: Chronic urticaria (CU) is a manageable disease with symptoms of itching and visible lesions that can disrupt daily life and reduce quality of life. The severity of symptoms can vary, and the cause is often unknown. Concerns among patients as regards to treatment and prognosis highlight the need for disease education to enhance self-management and reduce anxiety. The present study examines the effect of disease education on the knowledge level of CU patients.

Materials and methods: Patients with CU who presented to the allergy clinics of two tertiary university hospitals were invited to in-person education sessions including slide presentations given by faculty members. A 27-question survey was administered before and after the sessions addressing the subject matter, including definitions, causes, diagnostic tests, and treatment options for CU.

Results: Included in the study were 83 patients (57 female; 26 male). The average number of correct answers prior to the education session was 13.62, and this increased to 19.48 after education. The most frequently incorrect answers were related to the importance of skin prick tests in cases of urticaria, the daily doses of antihistamines, and the use of topical corticosteroid treatment. The average number of correct answers post-education increased significantly among the university graduates, from 15.45 to 21.72 (p < 0.001), in high school graduates from 11.15 to 17.78 (p < 0.001), and in middle school graduates from 11.71 to 18.14 (p = 0.018). In contrast, the increase was not statistically significant among primary school graduates (p = 0.252). A total of 77 (92%) patients increased their scores after the education session.

Conclusion: Patients can benefit from the provision of accurate and reliable information about their disease. Face-to-face education effectively increased knowledge across all educational levels in patients with CU, and reduced their reliance on unreliable online sources. This enhanced understanding is expected to lead to better treatment adherence and self-management skills.

Background/aim: Early risk stratification is required in cases of acute biliary pancreatitis (ABP). Traditional scoring systems such as Ranson's criteria are complex and often delay treatment. D-dimer, a basic marker of systemic inflammation and coagulation, has shown promise as a prognostic tool. The present study investigates whether the predictive accuracy of serial serum D-dimer measurements is superior to that of the Ranson and BISAP scoring systems for moderate-to-severe ABP.

Materials and methods: Included in this single-center prospective observational study were 264 patients diagnosed with ABP between July 2022 and July 2025 whose collected data were analyzed. The participants were categorized as mild, moderate, or severe based on the current Revised Atlanta Classification (2012), and D-dimer levels were measured at admission (H0), 24 h (H24), and 48 h (H48), along with their BISAP scores to allow a comparative analysis.

Results: Mean D-dimer levels increased significantly with disease severity at all timepoints (p < 0.001). ROC analysis identified the D-dimer level at H48 to have the highest discriminative value for predicting moderate-to-severe ABP (AUC: 0.812; 95% CI: 0.758-0.866). The H24 and H0 D-dimer levels also performed well (AUCs: 0.728 and 0.719, respectively). In comparison, the Ranson (H48 AUC: 0.741) and BISAP scores (H24 AUC: 0.755) yielded lower predictive accuracy - the H48 D-dimer AUC being statistically superior to both (p < 0.05).

Conclusion: Serum D-dimer levels are significantly associated with ABP severity and show promise as a practical, accessible, and cost-effective adjunctive biomarker for early risk assessment. Serial measurements, especially at 48 h, offer superior diagnostic accuracy compared to Ranson and BISAP scoring alone. The clinical measurement of D-dimer levels at 48 h can thus be considered an accessible and timely triage approach. Multicenter prospective validation studies are needed to confirm the diagnostic thresholds and to assess clinical integration.

Background/aim: Due to the increasing incidence of testicular cancer (TC), early testicular self-examination (TSE) in adolescent males is crucial for early detection and treatment. However, it is uncertain which method is best for teaching about TC and TSE in this age group. This study aimed to assess the effectiveness of formal (face to face with model) and informal (video presentation) approaches in male adolescents about TC and TSE.

Material and methods: This intervention study was conducted in 2 high schools, and included a study group (n = 142) and a control group (n = 102). In the study group, a video was shown to one subgroup of male students (n = 60) about testicular anatomy, cancer, and self-examination, while another subgroup (n = 82) received in-person training on the same topics using a model.

Results: The effectiveness of both trainings was evaluated at the end of the third month. Both trainings were significantly effective (p < 0.05). The number of male adolescents performing TSE increased significantly in both training groups (p < 0.001).

Conclusion: Both video content tailored to the developmental level of the male adolescent group and face-to-face training using interactive and professionally produced medical models were effective in teaching about TC and TSE and can lead to beneficial behavioral changes in performing TSE.

Environmental endocrine-disrupting chemicals (EDCs) have emerged as a critical global health concern because of their role in various diseases, including thyroid cancer. Defined as exogenous substances that disrupt endocrine system functions, EDCs can affect multiple generations through mechanisms such as hormone receptor modulation, altered hormone synthesis, and epigenetic modifications. The increasing global incidence of thyroid cancer has heightened interest in environmental factors, with EDC exposure recognized as a significant contributor. Compounds such as heavy metals, persistent organic pollutants, per- and polyfluoroalkyl substances, and bisphenol A play crucial roles in disrupting thyroid homeostasis. Emerging evidence underscores the synergistic effects of multiple EDC exposures, further amplifying cancer risk. This review explores the relationship between EDC exposure and thyroid carcinogenesis, focusing on key chemical compounds and their mechanisms of action. Understanding these links is essential for guiding public health policies and shaping future research aimed at preventing and improving the management of this malignancy.

Fetal development depends on complex maternal-fetal-placental interactions, with thyroid hormones playing a vital role in regulating growth and neurogenesis. Exposure to endocrine-disrupting chemicals (EDCs) during pregnancy has emerged as a significant risk factor for thyroid dysfunction and its associated developmental and cognitive disorders. EDCs, including bisphenol A (BPA), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), perfluoroalkyl substances, pesticides, and heavy metals, disrupt thyroid hormone synthesis, secretion, and metabolism. Mechanisms involve receptor binding, disruption of the hypothalamic-pituitary-thyroid axis, and inhibition of thyroid peroxidase activity. BPA exposure, for instance, reduces free and total T4 levels and interferes with deiodinase activity. Similarly, PCBs and PBDEs are associated with lower thyroxine concentrations and long-term behavioral abnormalities in offspring. Pesticides and heavy metals exacerbate thyroid dysfunction by interfering with hormone synthesis and receptor interactions. Genetic predisposition, iodine deficiency, and autoimmune conditions further increase susceptibility to EDC-related thyroid disorders. Considering the heightened vulnerability of early pregnancy and the widespread environmental presence of EDCs, reducing exposure and implementing regulatory measures are essential to mitigate their adverse effects on maternal and fetal thyroid health. Future research should prioritize elucidating the mechanisms of EDC-induced thyroid dysfunction and developing interventions to protect at-risk populations.

The global prevalence of obesity and metabolic syndrome (MetS) is rising worldwide, and increasing evidence suggests that chemical exposures-particularly endocrine disruptors (EDs)-represent a significant contributing factor. EDs can act as obesogens, increasing the risk of weight gain and related metabolic conditions, including type 2 diabetes, dyslipidemia, hypertension, and cardiovascular disease. They may also alter the basal metabolic rate, gut microbiota composition, and hormonal regulation of appetite and satiety. EDs are reported to exert their effects mainly through the peroxisome proliferator-activated receptor gamma pathway, which is primarily expressed in adipose tissue and is a key regulator of adipogenesis. Common consumer products such as plastic bottles, metal food cans, detergents, toys, cosmetics, and pesticides frequently contain EDs. Humans can be exposed to these chemicals via multiple routes, including transplacental transfer, breast milk, inhalation, ingestion, and dermal absorption. Bisphenols, tributyltin, phthalates, per- and polyfluoroalkyl substances, polycyclic aromatic hydrocarbons, and heavy metals are among the known EDs that have been associated with obesity and MetS. The need for further investigation and stricter regulations to mitigate the public health consequences of environmental exposure to EDs is consistently emphasized in recent literature. Understanding the mechanisms by which EDs affect various hormones and systems is essential for developing effective prevention and intervention strategies. In this review, we discuss the relationship between obesity, MetS, and EDs, along with exposure pathways and preventive strategies.

Endocrine-disrupting chemicals (EDCs) are compounds that interfere with hormone synthesis, secretion, metabolism, or excretion. Evidence indicates that increased exposure to EDCs is associated with insulin resistance and, most notably, type 2 diabetes worldwide. This suggests a diabetogenic effect that is independent of obesity, underscoring the complex mechanisms and broad impact of EDCs on metabolic health. Key pathways include hormone mimicry and antagonism, altered hormone metabolism, inflammatory responses, and mitochondrial dysfunction. This review summarises the mechanisms through which EDCs contribute to these conditions and evaluates the epidemiological and experimental evidence supporting these associations.

Background/aim: Meningeal lymphatic vessels (mLVs) facilitate the clearance of toxic metabolites like amyloid-beta (Aβ) from the central nervous system. Dysfunction in MLVs is implicated in Alzheimer's disease (AD). However, current knowledge relies on exogenous intervention models that fail to capture spontaneous mLV decline during AD progression. In this study, we investigated the age-dependent correlation between mLV/deep cervical lymph node (dCLN) dysfunction and Aβ pathology in APP/PS1 mice under noninterventional conditions.

Materials and methods: APP/PS1 and wild-type (WT) mice at 3, 6, and 9 months of age were evaluated. Cognitive function was tested using the Morris water maze. mLV/dCLN drainage was assessed by intracisternal Texas Red dextran 3 injection. Lymphatic structure/function and Aβ pathology were analyzed via immunohistochemistry, immunofluorescence, and tracer penetration.

Results: APP/PS1 mice developed significant cognitive deficits at 6 and 9 months. Aβ plaques emerged at 6 months and progressed by 9 months in APP/PS1 mice, but were absent in controls. At 6 months, APP/PS1 mice had reduced tracer drainage in mLVs/dCLNs, decreased LYVE-1 expression, and impaired tracer penetration in the hippocampus/cortex compared to WT mice.

Conclusion: Lymphatic functional decline starts at 6-months old, providing a critical timeframe for early AD intervention. Our findings underscore the value of the APP/PS1 model for studying lymphatic clearance mechanisms in AD.

Background/aim: Hereditary neuropathies exhibit significant genetic heterogeneities, often making molecular diagnosis challenging. Clinical Exome Sequencing (CES) allows the simultaneous evaluation of a wide range of candidate genes, and can be considered an efficient approach to identifying underlying genetic causes. The present study assesses the diagnostic utility of CES in patients with clinically suspected hereditary neuropathy.

Materials and methods: Included in the study were 21 patients with clinically suspected hereditary neuropathy who underwent CES. DNA samples were isolated from peripheral blood and subjected to CES on an Illumina NextSeq 2000 system, while a bioinformatics analysis and variant interpretation were performed using Sophia DDM® software. All identified variants were classified according to the most recent American College of Medical Genetics and Genomics (ACMG) guidelines.

Results: Pathogenic or likely pathogenic variants were identified in seven patients (33.3%), of whom six (28.5%) had a confirmed molecular diagnosis consistent with the clinical phenotype. Variants of uncertain significance (VUS) were detected in nine patients (42.8%), while no clinically relevant variants were found in five (23.8%).

Conclusion: CES contributed significantly to the establishment of molecular diagnoses in nearly one-third of the studied cohort. However, the high prevalence of VUS underscores the limitations of current interpretation frameworks, revealing a need for functional validation and familial segregation analyses. Despite these challenges, CES remains a valuable and appropriate diagnostic tool, particularly in resource-limited healthcare settings.

Background/aim: Juvenile idiopathic arthritis (JIA) is the most prevalent form of chronic inflammatory arthritis in children, and the symptoms persist into adulthood for a considerable number of patients. This study aimed to compare the JIA subtypes using the diagnostic criteria used for adults and identify the clinical characteristics and treatment approaches for patients with JIA transitioning to adult-oriented rheumatology care.

Materials and methods: Patients diagnosed with JIA in the pediatric rheumatology clinic were retrospectively evaluated. The patients (n=107) who had at least one follow-up visit in the adult rheumatology clinic were included in the study. After transitioning from pediatric to adult-oriented rheumatology care, 2 experienced adult rheumatologists retrospectively reclassified the patients based on the adult classification criteria with clinical, serological, and radiological findings.

Results: The most common diagnosis was enthesitis-related arthritis (49.5%), followed by oligoarticular JIA (22.4%). The follow-up diagnoses of the JIA patients in adult-oriented rheumatology care were radiographic axial spondyloarthritis (SpA) (30.8%), nonradiographic axial SpA (15%), rheumatoid arthritis (12.1%), Still's disease (11.2%), psoriatic arthritis (2.8%), and peripheral SpA (2.8%). However, 25.2% of the patients were unclassified, particularly in the oligoarticular subgroup. During the transition, 60% of the patients with JIA were receiving medical treatment.

Conclusion: A significant number of patients in oligoarticular and rheumatoid factor-negative polyarticular JIA groups did not meet adult classification criteria, making them the most challenging subtypes to manage in adult-oriented rheumatology care. Understanding the transformation of distinct phenotypes into adulthood and managing the transition without interruption can improve the prognosis of JIA.