Digitalni repozitorij raziskovalnih organizacij Slovenije

Iskanje po repozitoriju
A+ | A- | Pomoč | SLO | ENG

Iskalni niz: išči po
išči po
išči po
išči po

Možnosti:
  Ponastavi


Iskalni niz: "avtor" (Tadej Battelino) .

1 - 10 / 50
Na začetekNa prejšnjo stran12345Na naslednjo stranNa konec
1.
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia : a worldwide cross-sectional study
Amany Elshorbagy, Alexander R.M. Lyons, Antonio J. Vallejo-Vaz, Christophe A. T. Stevens, Kanika I. Dharmayat, Julia M. Brandts, Alberico L. Catapano, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Urh Grošelj, 2024, izvirni znanstveni članek

Povzetek: Background Statins are the cornerstone treatment for patients with heterozygous familial hypercholesterolaemia but research suggests it could increase the risk of type 2 diabetes in the general population. A low prevalence of type 2 diabetes was reported in some familial hypercholesterolaemia cohorts, raising the question of whether these patients are protected against type 2 diabetes. Obesity is a well known risk factor for the development of type 2 diabetes. We aimed to investigate the associations of known key determinants of type 2 diabetes with its prevalence in people with heterozygous familial hypercholesterolaemia. Methods This worldwide cross-sectional study used individual-level data from the EAS FHSC registry and included adults older than 18 years with a clinical or genetic diagnosis of heterozygous familial hypercholesterolaemia who had data available on age, BMI, and diabetes status. Those with known or suspected homozygous familial hypercholesterolaemia and type 1 diabetes were excluded. The main outcome was prevalence of type 2 diabetes overall and by WHO region, and in relation to obesity (BMI ≥30∙0 kg/m²) and lipid-lowering medication as predictors. The study population was divided into 12 risk categories based on age (tertiles), obesity, and receiving statins, and the risk of type 2 diabetes was investigated using logistic regression. Findings Among 46 683 adults with individual-level data in the FHSC registry, 24 784 with heterozygous familial hypercholesterolaemia were included in the analysis from 44 countries. 19 818 (80%) had a genetically confirmed diagnosis of heterozygous familial hypercholesterolaemia. Type 2 diabetes prevalence in the total population was 5·7% (1415 of 24 784), with 4·1% (817 of 19 818) in the genetically diagnosed cohort. Higher prevalence of type 2 diabetes was observed in the Eastern Mediterranean (58 [29·9%] of 194), South-East Asia and Western Pacific (214 [12·0%] of 1785), and the Americas (166 [8·5%] of 1955) than in Europe (excluding the Netherlands; 527 [8·0%] of 6579). Advancing age, a higher BMI category (obesity and overweight), and use of lipid-lowering medication were associated with a higher risk of type 2 diabetes, independent of sex and LDL cholesterol. Among the 12 risk categories, the probability of developing type 2 diabetes was higher in people in the highest risk category (aged 55–98 years, with obesity, and receiving statins; OR 74∙42 [95% CI 47∙04–117∙73]) than in those in the lowest risk category (aged 18–38 years, without obesity, and not receiving statins). Those who did not have obesity, even if they were in the upper age tertile and receiving statins, had lower risk of type 2 diabetes (OR 24∙42 [15∙57–38∙31]). The corresponding results in the genetically diagnosed cohort were OR 65∙04 (40∙67–104∙02) for those with obesity in the highest risk category and OR 20∙07 (12∙73–31∙65) for those without obesity. Interpretation Adults with heterozygous familial hypercholesterolaemia in most WHO regions have a higher type 2 diabetes prevalence than in Europe. Obesity markedly increases the risk of diabetes associated with age and use of statins in these patients. Our results suggest that heterozygous familial hypercholesterolaemia does not protect against type 2 diabetes, hence managing obesity is essential to reduce type 2 diabetes in this patient population
Ključne besede: Diabetes Mellitus, type 2, aged, risk factors, cross-sectional studies, sladkorna bolezen, tip 2, starostniki, dejavniki tveganja, presečne študije
Objavljeno v DiRROS: 12.06.2026; Ogledov: 142; Prenosov: 75
.pdf Celotno besedilo (857,07 KB)
Gradivo ima več datotek! Več...

2.
Exploring early DNA methylation alterations in type 1 diabetes : implications of glycemic control
Barbara Čugalj Kern, Jernej Kovač, Robert Šket, Tine Tesovnik, Barbara Jenko Bizjan, Julia Galhardo, Tadej Battelino, Nataša Bratina, Klemen Dovč, 2024, izvirni znanstveni članek

Povzetek: Background: Prolonged hyperglycemia causes diabetes-related micro- and macrovascular complications, which combined represent a significant burden for individuals living with diabetes. The growing scope of evidence indicates that hyperglycemia affects the development of vascular complications through DNA methylation. Methods: A genome-wide differential DNA methylation analysis was performed on pooled peripheral blood DNA samples from individuals with type 1 diabetes (T1D) with direct DNA sequencing. Strict selection criteria were used to ensure two age- and sex-matched groups with no clinical signs of chronic complications according to persistent mean glycated hemoglobin (HbA1c) values over 5 years: HbA1c<7% (N=10) and HbA1c>8% (N=10). Results: Between the two groups, 8385 differentially methylated CpG sites, annotated to 1802 genes, were identified. Genes annotated to hypomethylated CpG sites were enriched in 48 signaling pathways. Further analysis of key CpG sites revealed four specific regions, two of which were hypermethylated and two hypomethylated, associated with long non-coding RNA and processed pseudogenes. Conclusions: Prolonged hyperglycemia in individuals with T1D, who have no clinical manifestation of diabetes-related complications, is associated with multiple differentially methylated CpG sites in crucial genes and pathways known to be linked to chronic complications in T1D
Ključne besede: type 1 diabetes, glycemic control, DNA methylation, diabetes-related complications, long-read sequencing
Objavljeno v DiRROS: 08.06.2026; Ogledov: 145; Prenosov: 103
.pdf Celotno besedilo (947,73 KB)
Gradivo ima več datotek! Več...

3.
Clinical perspective on innovative insulin delivery technologies in diabetes management
Güvenç Koçkaya, Tadej Battelino, Goran Petrovski, Johan Jendle, Beatrix Sármán, Nancy Elbarbary, Damla Goksen, Mohammed Alharbi, Bird Tibet, Amir Mustapha Sharaf, 2024, izvirni znanstveni članek

Povzetek: Introduction: The primary objective of this study is to report the results of an online questionnaire and the in-person discussion sessions of physicians specializing in diabetes care in which their opinions about current diabetes management was obtained. Methods: The Diabetes Innovation Summit 2023 drew attendance from a diverse group of specialized physicians from multiple countries. A comprehensive literature review was conducted to examine the technologies and medical needs associated with diabetes management. Using the results of the review, a questionnaire was developed by three experts from the steering committee to solicit feedback from specialized physicians. The online survey was made accessible between 10th December 2022 and 10th January 2023. Following the online survey, six structured in-person discussion sessions were conducted with specialized physicians from the Middle East, Central-Eastern Europe, and North Africa regions. Results: The study revealed that about 59% of survey requests were answered, with many participants being pediatric endocrinologists from North Africa. Around 60% of diabetes patients followed Multiple Daily Injections (MDI) according to specialized physicians. Among MDI users, 62% employed Blood Glucose Monitors (BGM), 31% used intermittent-scanning Continuous Glucose Monitors (isCGM), and 23% used CGM. In North Africa, nearly 90% of patients used MDI due to financial constraints. While physicians focused on both Time in Range (TIR) and HbA1c for MDI-treated patients, satisfaction with TIR achieved was expressed by 31%, while 74·1% believed Real-Time CGM (rtCGM) was effective. Concerns arose about potentially misleading HbA1c results and the relatively low patient achievement of target TIR despite CGM usage. The Smart MDI System was seen favorably compared to other applications. The system’s affordability was a significant barrier, particularly in the Middle East and Africa. Conclusion: The present study highlights that physicians are generally supportive of utilizing new technology. The questionnaires and the open discussion revealed the expectation that the Smart MDI technology provides better control, primarily by identifying missed boluses, while expressing concerns on the use of the technology by teenagers and children, who might forget the device and be reluctant to use in public, and by the older population, who might be challenged by the technology
Ključne besede: diabetes treatment, glycemic control
Objavljeno v DiRROS: 08.06.2026; Ogledov: 101; Prenosov: 75
.pdf Celotno besedilo (556,84 KB)
Gradivo ima več datotek! Več...

4.
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan : case series and systematic literature review
Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Šikonja, Fouzia Sadiq, Urša Šuštar, Matej Mlinarič, Jernej Kovač, Hijab Batool, Iqbal Mohammad Khan, Katarina Trebušak Podkrajšek, Barbara Jenko Bizjan, Tadej Battelino, Zlatko Fras, Urh Grošelj, 2024, izvirni znanstveni članek

Povzetek: Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis. Methods: We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the LPL gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics. Results: Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg). Conclusions: Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.
Ključne besede: LPL, case series, hypertriglyceridemia, lipoprotein lipase, lipoprotein lipase deficiency, pancreatitis
Objavljeno v DiRROS: 08.06.2026; Ogledov: 122; Prenosov: 89
.pdf Celotno besedilo (524,39 KB)
Gradivo ima več datotek! Več...

5.
Effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers in healthy 5-6-year-old children : a randomized controlled trial
Maja Berlic, Mojca Korošec, Žiga Iztok Remec, Vanja Čuk, Tadej Battelino, Barbka Repič-Lampret, 2024, izvirni znanstveni članek

Povzetek: As children spend up to 9 h a day in kindergarten, the main purpose of our study was to evaluate the effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers (OSBs) in healthy children. In the randomized control trial with a follow-up, healthy 5–6-year-old children from six kindergartens were randomly divided into a prototype group (PG, n=40) and a control group (CG, n=17). PG followed a 2-week antioxidant-rich kindergarten meal plan (breakfast, lunch, and two snacks), and CG followed their standard kindergarten meal plans. Outside the kindergartens, participants ate as usual. We used a consecutive 7-day dietary record inside and outside the kindergarten and the national dietary assessment tool OPEN to assess the total dietary antioxidant capacity (dTAC) of the consumed foods. Malondialdehyde (MDA), 8-hydroxy-2-deoxyguanosine (8-OHdG), and four F2-isoprostane were measured in fasting urine on days 1 and 15. We also measured total antioxidant power (PAT) and hydroperoxides (d-ROMs) in fasting serum on day 15 and obtained the value of the oxidative stress index (OSI). We used a Welch two-sample t-test and multiple regression analysis to compare the prototype and control groups and a nonparametric Wilcoxon signed rank exact test to compare pre- and post-intervention results in urine. Antioxidant-rich kindergarten meals contributed to a significantly (p<0.05) higher intake of dTAC in PG participants compared to standard meals in CG participants (8.6 vs. 2.8 mmol/day). We detected a negative correlation between dTAC intake and d-ROMs and between dTAC intake and OSI (r= −0.29, p=0.043 and r= −0.31, p=0.032, respectively). A significant decrease in urinary 8-iso-15-prostaglandin-F-2 alpha was detected in PG participants between days 1 and 15; however, no other intra-individual significant differences in urinary OSBs were found.
Ključne besede: antioxidant-rich diet, oxidative stress biomarkers, dietary antioxidant capacity, reactive oxygen metabolites, F2-isoprostanes, kindergarten diet
Objavljeno v DiRROS: 08.06.2026; Ogledov: 95; Prenosov: 70
.pdf Celotno besedilo (1,03 MB)
Gradivo ima več datotek! Več...

6.
7.
Clinical care advice for monitoring of islet autoantibody positive individuals with presymptomatic type 1 diabetes
A. Emile J. Hendriks, M. Loredana Marcovecchio, Rachel E.J. Besser, Ezio Bonifacio, Kristina Casteels, Helena Elding Larsson, Gita Gemulla, Markus Lundgren, Olga Kordonouri, Roberto Mallone, 2024, izvirni znanstveni članek

Povzetek: Type 1 diabetes is an autoimmune disease that involves the development of autoantibodies against pancreatic islet beta-cell antigens, preceding clinical diagnosis by a period of preclinical disease activity. As screening activity to identify autoantibody-positive individuals increases, a rise in presymptomatic type 1 diabetes individuals seeking medical attention is expected. Current guidance on how to monitor these individuals in a safe but minimally invasive way is limited. This article aims to provide clinical guidance for monitoring individuals with presymptomatic type 1 diabetes to reduce the risk of diabetic ketoacidosis (DKA) at diagnosis. Expert consensus was obtained from members of the Fr1da, GPPAD, and INNODIA consortia, three European diabetes research groups. The guidance covers both specialist and primary care follow-up strategies. The guidance outlines recommended monitoring approaches based on age, disease stage and clinical setting. Individuals with presymptomatic type 1 diabetes are best followed up in specialist care. For stage 1, biannual assessments of random plasma glucose and HbA1c are suggested for children, while annual assessments are recommended for adolescents and adults. For stage 2, 3-monthly clinic visits with additional home monitoring are advised. The value of repeat OGTT in stage 1 and the use of continuous glucose monitoring in stage 2 are discussed. Primary care is encouraged to monitor individuals who decline specialist care, following the guidance presented. As type 1 diabetes screening programs become more prevalent, effective monitoring strategies are essential to mitigate the risk of complications such as DKA. This guidance serves as a valuable resource for clinicians, providing practical recommendations tailored to an individual's age and disease stage, both within specialist and primary care settings.
Ključne besede: type 1 diabetes, presymptomatic type 1 diabetes, diabetic ketoacidosis, guidance
Objavljeno v DiRROS: 05.06.2026; Ogledov: 149; Prenosov: 100
.pdf Celotno besedilo (942,25 KB)
Gradivo ima več datotek! Več...

8.
9.
Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults
Jaka Šikonja, Urška Intihar, Borut Jug, Neža Salobir, Katarina Trebušak Podkrajšek, Matija Cevc, Nina Đorđević, Jan Kafol, Tevž Gorjanc, Matej Mlinarič, Barbara Čugalj Kern, Jernej Kovač, Tadej Battelino, Zlatko Fras, Urh Grošelj, 2026, izvirni znanstveni članek

Povzetek: Background: Multiple familial hypercholesterolemia (FH) screening strategies are recommended, but how they work together within a population remains poorly understood. Here, we aimed to compare the characteristics of children diagnosed through a universal screening program with those of adults identified through opportunistic screening. Methods: In this retrospective cross-sectional study, we analyzed the clinical and genetic characteristics of children and adults with genetically confirmed heterozygous FH (HeFH). Results: Out of 442 children and 299 adults with a definite or probable FH based on clinical criteria, 39 (13.0%) adults and 197 (44.6%) children had also a genetic HeFH. FH causative variants were present in low-density lipoprotein receptor (LDLR) in 159 (67.4%) patients and in apolipoprotein B (APOB) in 77 (32.6%) patients. The combined screening approach identified 44 disease-causing variants, of which 2 and 25 were unique to the adult and pediatric cohort, respectively. The proportion of children with missense variants was significantly higher (172 [87.3%] vs. 27 [69.2%]; p = 0.005), whereas the proportion of termination variants was significantly lower (20 [10.2%] vs. 11 [28.2%]; p = 0.002) compared to the adult group. Adults had higher adjusted low-density lipoprotein cholesterol compared to children. Conclusions: Our study suggests that opportunistic adult screening identifies more severe FH phenotypes, while universal pediatric screening detects milder cases.
Ključne besede: familial hypercholesterolemia, adults, children, genetics, universal screening, opportunistic screening
Objavljeno v DiRROS: 01.06.2026; Ogledov: 134; Prenosov: 89
.pdf Celotno besedilo (201,84 KB)
Gradivo ima več datotek! Več...

10.
The use of automated insulin delivery around physical activity and exercise in type 1 diabetes : a position statement of the European Association for the Study of Diabetes (EASD) and the International Society for Pediatric and Adolescent Diabetes (ISPAD)
Othmar Moser, Dessi P. Zaharieva, Peter Adolfsson, Tadej Battelino, Richard M. Bracken, Bruce Buckingham, Thomas Danne, Elizabeth Davis, Klemen Dovč, 2026, izvirni znanstveni članek

Povzetek: Regular physical activity and exercise (PA) are cornerstones of diabetes care for individuals with type 1 diabetes. In recent years, the availability of automated insulin delivery (AID) systems has improved the ability of people with type 1 diabetes to achieve the recommended glucose target ranges. PA provides additional health benefits but can cause glucose fluctuations, which challenges current AID systems. While an increasing number of clinical trials and reviews are being published on different AID systems and PA, it seems prudent at this time to collate this information and develop a position statement on the topic. This joint European Association for the Study of Diabetes (EASD)/International Society for Pediatric and Adolescent Diabetes (ISPAD) position statement reviews current evidence on AID systems and provides detailed clinical practice points for managing PA in children, adolescents and adults with type 1 diabetes using AID technology. It discusses each commercially available AID system individually and provides guidance on its use in PA. Additionally, it addresses different glucose responses to PA and provides stratified therapy options to maintain glucose levels within the target ranges for these age groups.
Ključne besede: automated insulin delivery, continuous glucose monitoring, exercise, glucose, insulin pump, physical activity, position statement, type 1 diabetes
Objavljeno v DiRROS: 23.04.2026; Ogledov: 234; Prenosov: 252
.pdf Celotno besedilo (3,25 MB)
Gradivo ima več datotek! Več...

Iskanje izvedeno v 0.2 sek.
Na vrh