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Povzetek: Background Previous research on associations between cardiovascular health, measured at a single timepoint, and rate of age-related cognitive decline shows divergent findings dependent on the participants’ age and the health metric studied. The aim of this study was to add to the knowledge in this field by investigating whether change in cardiovascular health, assessed with Life’s Simple 7 (LS7) score, is associated with rate of cognitive change in youngold and old-old adults. Methods The study included 1022 participants aged≥60 years from the Swedish National Study on Aging and CareKungsholmen (SNAC-K), who underwent repeated neuropsychological testing (episodic memory, semantic memory, verbal fluency, and perceptual speed) across up to 15 years. LS7, composed of seven cardiovascular health metrics (smoking, diet, physical activity, body mass index, plasma glucose, total serum cholesterol, and blood pressure), was assessed at baseline and at the 6-year follow-up. Change in LS7 was calculated as the difference between baseline and 6 years (range −5 to 8 points) and categorised into worse (−5 to −2 points), stable (−1 to 1 points), and improved (2 to 8 points). Change in cognitive performance as a function of LS7 change categories was estimated using linear mixed-effects models. Results Participants were classified as stable (67.1%), improved (21.0%), or worse (11.8%) according to changes in LS7 score. Both the worse and improved categories were associated with faster cognitive decline. Age-stratified analyses revealed that worsening of LS7 was clearly associated with faster cognitive decline in the old-old (≥78 years), whereas improvement tended be associated with faster cognitive decline in the young-old (<78 years) group. Conclusions Change in cardiovascular health in old age may lead to accelerated cognitive decline, particularly in late senescence. These results suggest that it is important to monitor and maintain cardiovascular health status in very old adults.
Ključne besede: aging, cardiovascular risk factors, cognition, epidemiology
Objavljeno v DiRROS: 04.06.2026; Ogledov: 222; Prenosov: 147
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Povzetek: Oncocytic thyroid carcinoma (OTC) is a rare disease. There is little information about risk factors for recurrence. The aim of our retrospective, single-institution study was to investigate the recurrence rate in OTC patients with and without an excellent response after initial treatment according to the 2025 American Thyroid Association guidelines response criteria based on type of initial intervention. Material/Methods: Altogether, 260 patients with OTC (57 men, 203 women; mean age 60.35 years; range 16-90 years) treated from 1972 to 2024 were included. Initially, regional and distal metastases were diagnosed in 15 (6%) and 25 (10%) patients, respectively. Cox’s multivariate regression model was used to identify the risk factors for recurrence. Results: The follow-up period ranged from 0.1 to 45.2 (median 7.9) years. Recurrence was diagnosed in 39 (17%) of the 235 patients without disease after initial treatment. Locoregional, distant, and combined locoregional and distant recurrence was diagnosed in 18, 14, and 7 patients, respectively. Among 154 patients with an excellent response, recurrence occurred in 6.5%, and among the 81 patients without an excellent response, it occurred in 36% (P<0.001). Independent risk factors for recurrence were: sex (males, hazard ratio (HR)=2.5, 95% CI 1.3-4.8; P=0.009), age (³55 years, HR=2.7, 95% CI 1.2-5.8; P=0.012), pT stage (pT3 or pT4, HR=1.4, 95% CI 1.0-1.9; P=0.023), and residual tumor after surgery (R1 or R2 residual tumor, HR=1.2, 95% CI 1.07-1.3; P=0.001). The 5-year disease-free survival rate for the entire cohort was 88%, while the 10-year and 20-year disease-free survival rates were 79%, and 74%, respectively. Conclusions: Recurrence rate in patients with and without an excellent response was 6.5% and 35%, respectively. Recurrence was more common in men, older patients, those with regional metastases, and those with residual tumor after surgery
Ključne besede: prognosis, risk factors, survival rate, thyroid neoplasms
Objavljeno v DiRROS: 03.06.2026; Ogledov: 150; Prenosov: 120
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Povzetek: Amyotrophic lateral sclerosis (ALS) is a heritable disorder where rare variants with low-to-moderate penetrance are thought to dominate genetic risk. To identify such rare variants, we harmonized and analyzed exome data from 22 cohorts, totaling 17,919 individuals with ALS and 200,703 controls across discovery and replication phases. Rare variant analyses identified several new risk genes, with replication confirming association of YKT6 and supporting HTR3C, GBGT1 and KNTC1. We also provide strong, independent validation for genes with limited previous evidence: ARPP21, DNAJC7 and CFAP410. Notably, in ARPP21, we identified a new high-effect variant (p.P747L) and confirmed that p.P563L is an ALS-associated variant leading to an aggressive disease course. Beyond new discoveries, our analyses largely recapitulated the known genetic architecture of ALS, identifying risk variants in over 20% of cases and supporting a cumulative oligogenic risk model. These findings highlight new translational targets and show that rare variant analyses capture substantially more genetic risk than common variant genome-wide association studies.
Ključne besede: genetics, neuroscience, rare variant analysis, amyotrophic lateral sclerosis (ALS), genetic risk factors
Objavljeno v DiRROS: 24.04.2026; Ogledov: 502; Prenosov: 307
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Povzetek: Objectives: To assess the contemporary malignancy rate in isolated de novo red patchesin the bladder and associated risk factors for better selection of red patch biopsy.Patients: Patients from the IDENTIFY dataset; Patients referred to secondary carewith suspected urinary tract cancer and found to have isolated de novo red patcheson cystoscopy.Methods: We reported the unadjusted cancer prevalence in isolated de novo redpatches that were biopsied; multivariable logistic regression was used to explorecancer-associated risk factors including age, sex, smoking, type of haematuria, LUTS,UTIs and a suspicious-looking red patch (as reported by the cystoscopist). Sub-analysis of these by clinical role and experience was performed.Results: A total of 1110 patients with isolated de novo red patches were included.41.5% (n = 461) were biopsied, with a malignancy rate of 12.8% (59/461), whichwas significantly higher in suspicious versus non-suspicious red patches (19.1%vs. 2.81%, p < 0.01). There was a significant association between bladder cancer andage (OR 1.04, 95% CI 1.01–1.07, p = 0.01), smoking history (OR 2.62, 95% CI 1.09–6.27, p = 0.03) and suspicious-looking patch (OR 6.50, 95% CI 2.47–17.1, p < 0.01).The majority of malignancies were in over 60-year-olds. Malignancy rates in suspicious versus non-suspicious red patches did not differ significantly betweenclinical roles or experiences.Limitations included subjectivity in classifying a suspicious patch and selection biasas not all patches were biopsied.Conclusions: Many patients still undergo unnecessary biopsies under general anaes-thetic for isolated de novo red patches. Clinicians should consider the patient’s age,smoking status and how suspicious-looking the patch is, before deciding on surveil-lance versus biopsy to improve cancer diagnostic yield.
Ključne besede: biopsy, bladder cancer, cystoscopy, haematuria, red patch, risk factors
Objavljeno v DiRROS: 09.04.2026; Ogledov: 348; Prenosov: 122
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Povzetek: Venous thromboembolism (VTE) are rare but potentially life-threatening conditions in children, usually associated with underlying medical conditions. Some children with diagnosed VTE have genetic risk factors for the development of VTE, as well as for recurrent complications. This study reports risk factors for developing VTE in a homogeneous population of children and adolescents. A total of 155 children and adolescents, aged 0–21 years, who were diagnosed with VTE at the University Children's Hospital, UMC Ljubljana, between July 2006 and October 2021, were included. The median age at the time of the VTE diagnosis was 12.0 years (interquartile range: 1–7 years). Associated medical conditions were present in 75.5% of patients, and thrombophilia was diagnosed in 43.2% of patients. Oncological disease accounted for 27.7% of cases, while infections were found to be the most significant acquired risk factor (17.4%), followed by the presence of a central venous catheter (15.5%). Genetic thrombophilia markers were identified in 27.1% of patients, with the highest frequency in adolescents (62.5%). Factor V (FV) Leiden heterozygote was the most common marker (9.6% of patients), followed by elevated factor VIII (FVIII) activity (5.8%) and elevated Lp(a) levels (5.2%). Combined thrombophilia markers were found in 52.2% of patients. In addition to inherited thrombophilia, 83.3% of patients had acquired risk factors. Compared to previously reported prevalence, a lower occurrence of FV Leiden heterozygote, elevated Lp(a) levels, elevated FVIII activity and antiphospholipid syndrome was observed in our population.
Ključne besede: acquired risk factors, genetic thrombophilia markers, inherited thrombophilia, pediatrics, venous thromboembolism
Objavljeno v DiRROS: 13.03.2026; Ogledov: 423; Prenosov: 256
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