121. Razširjenost dvojnozobega smrekovega lubadarja (Ips duplicatus) v Sloveniji v letu 2025Maarten De Groot, Tine Hauptman, Marija Kolšek, 2025, other scientific articles Abstract: Članek prikazuje rezultate spremljanja razširjenosti vrste Ips duplicatus (Sahlberg, 1836) v Sloveniji v letu 2025. Uporabili smo 12 režastih pasti tipa Theysohn, ki so bile opremljene s feromonom Dupliwit in ID ECOLURE. Prisotnost vrste smo potrdili na dveh lokacijah, skupno pa smo ujeli 4 osebke. Predstavljena je razprava o pomenu teh najdb v kontekstu razširjenosti, spremljanja in upravljanja dvojnozobega smrekovega lubadarja.
Keywords: spremljanje, navadna smreka, Picea abies, podlubniki, invazivna tujerodna vrsta
Published in DiRROS: 08.12.2025; Views: 58; Downloads: 27
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122. Ohranjanje biotske raznovrstnosti : študijska gradiva pri predmetu Ohranjanje biotske raznovrstnosti (5 vsebinskih sklopov)Lado Kutnar, 2025, other educational material Keywords: biotska raznovrstnost, ohranitvena biologija, izumiranje vrst, ravni biotske raznovrstnosti, genetska pestrost, vrstna pestrost, ekosistemska in krajinska pestrost, dejavniki ogrožanja, onesnaženje okolja, invazivne tujerodne vrste, podnebne spremembe, degradacija habitatov, fragmentacija habitatov, mehanizmi ohranjanja biotske raznovrstnosti, rdeči seznam vrst, zavarovane vrste, Natura 2000, Slovenija
Published in DiRROS: 08.12.2025; Views: 53; Downloads: 20
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125. Electrochemotherapy (ECT) in treatment of mucosal head and neck tumors : an international network for sharing practices on ECT (InspECT) study group reportGiulia Bertino, Marta Minuti, Aleš Grošelj, Črt Jamšek, Barbara Silvestri, Silvia Carpene, Paolo Matteucci, Giuseppe Riva, Giancarlo Pecorari, Matteo Mascherini, Gregor Serša, 2024, original scientific article Abstract: The aim of this multicenter study was to evaluate the effectiveness and safety of electrochemotherapy (ECT) for the treatment of mucosal tumors in the head and neck. A total of 71 patients with 84 nodules of different histologies in the oral cavity, pharynx and larynx treated by ECT were evaluated. The data were collected from the InspECT database from 10 participating centers throughout Europe. Primary and recurrent/secondary tumors of different histologies were treated. The overall response rate was 65 %, with a 33 % complete response rate with limited side effects. The response rates of the primary and secondary tumors were not different. However, smaller tumors responded better than tumors larger than 3 cm in diameter. Furthermore, the tumors that were treated with curative intent responded significantly better than those treated with palliative intent. This study demonstrated the feasibility, safety and effectiveness of ECT in a larger cohort of patients with mucosal lesions in the head and neck region. Based on the available data, ECT can be used for the treatment of recurrent and, in some cases, primary mucosal tumors located in the oral cavity, larynx, and pharynx. A better response was obtained in patients with smaller primary tumors treated with curative intent.
Keywords: electrochemotherapy, mucosal cancer, head cancer, neck cancer, ECT
Published in DiRROS: 05.12.2025; Views: 136; Downloads: 53
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126. Phylodynamic inference suggests introductions as main driver of Mpox Clade II outbreak in 2022 in SloveniaBastiaan Van der Roest, Egil A. J. Fischer, Don Klinkenberg, Martin C. J. Bootsma, Mojca Matičič, Katarina Resman Rus, Miša Korva, Tatjana Avšič-Županc, Mirjam Kretzschmar, 2025, original scientific article Keywords: global outbreak, Mpox, viral disease, Mpox Clade II
Published in DiRROS: 05.12.2025; Views: 129; Downloads: 49
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127. Novel ATP7A splice-site variant causing distal motor neuropathy and occipital horn syndrome: two siblings and literature reviewKarin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič-Meglič, Borut Peterlin, Lea Leonardis, 2025, original scientific article Abstract: Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an overlapping dHMN/OHS phenotype caused by a novel ATP7A splice-site variant and review the clinical and genetic features of previously published patients with ATP7Arelated dHMN. Methods: We performed detailed clinical, electrophysiological, and genetic evaluations of both siblings, including exome sequencing and RNA analysis. Additionally, we reviewed the clinical, electrophysiological, and genetic data of previously reported patients with ATP7A-related dHMN. Results: We identified a novel hemizygous ATP7A splice-site variant (NM_000052.7:c.1544-2A>T) in both brothers. The younger brother, who exhibited a more severe phenotype, presented in early childhood with mild global developmental delay, intellectual disability, and chronic diarrhea, while the older brother had childhood-onset chronic diarrhea without cognitive impairment. Both developed distal hereditary motor neuropathy later in life, and imaging revealed occipital horns. Serum copper and ceruloplasmin levels were mildly reduced. RNA sequencing revealed two aberrant transcript isoforms resulting from the splice-site variant, one of which may produce a partially functional protein. Review of previously reported patients shows that ATP7A-related dHMN may occur isolated or with overlapping features of OHS. In patients with the overlapping phenotype, chronic diarrhea was often the first symptom, followed by slowly progressive dHMN. Conclusions: Previously reported ATP7A-related dHMN has been mostly associated with missense variants. Our findings expand the mutational spectrum by identifying a splice-site variant. In patients with an overlapping OHS/dHMN phenotype, diagnosis was typically delayed for decades, suggesting this presentation remains underdiagnosed.
Keywords: ATP7A, splice-site variant, distal hereditary motor neuropathy, occipital horn syndrome, copper metabolism, neurogenetics
Published in DiRROS: 05.12.2025; Views: 133; Downloads: 55
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128. Renal response to levosimendan in advanced chronic heart failure patients listed for heart transplantation predicts early postoperative renal function courseGregor Zemljič, Gregor Poglajen, Sabina Frljak, Andraž Cerar, Renata Okrajšek, Miran Šebeštjen, Ivan Kneževič, Bojan Vrtovec, 2025, original scientific article Abstract: Background: Beyond its established inotropic effects, levosimendan has been reported to enhance renal function in patients with chronic heart failure. In this study, we investigated whether changes in renal function following levosimendan administration in patients listed for heart transplantation were associated with early post-transplant renal outcomes. Methods: We retrospectively analyzed data from 99 patients with advanced heart failure and renal insufficiency (eGFR < 90 mL/min/1.73 m2) who were listed for heart transplantation and received levosimendan therapy within 1 to 6 months prior to transplantation. Renal function was assessed immediately before and 24 h after levosimendan administration. A favorable renal response was defined as any increase in eGFR at 24 h. Post-transplant renal function was evaluated on postoperative days 1 and 7 using standard renal function parameters. Results: Favorable renal response to levosimendan prior to heart transplantation was present in 73 of 99 patients (74%, Group A), and 26 patients (26%) displayed no increase in eGFR (Group B). In the first week after heart transplantation, we found a significant improvement in renal function in Group A (ΔeGFR: +14 ± 3 mL/min/1.73 m2, p < 0.001), and worsening of renal function in Group B (ΔeGFR: −4 ± 3 mL/min/1.73 m2, p < 0.01). Favorable response to levosimendan prior to heart transplantation was an independent correlate of improved renal function after heart transplantation (p = 0.01). Conclusion: In patients awaiting heart transplantation, improvement in renal function after levosimendan therapy was associated with better early post-transplant renal outcomes. Levosimendan response may thus help identify reversible renal dysfunction and serve as a simple tool for transplant evaluation.
Keywords: heart transplantation, renal function, levosimendan
Published in DiRROS: 05.12.2025; Views: 114; Downloads: 49
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130. Erectile dysfunction in diabetes mellitus : a comprehensive narrative review of pathophysiology, genetic association studies and therapeutic approachesBoštjan Hostnik, Gašper Tonin, Andrej Janež, Jasna Klen, 2025, review article Abstract: Introduction Erectile dysfunction (ED) is a highly prevalent complication of diabetes mellitus (DM), significantly impairing quality of life and psychosocial well-being. The prevalence of ED is estimated to be over 3.5 times higher in men with diabetes mellitus compared to those without. The aetiology of diabetic ED is multifactorial, stemming from complex diabetes mellitus-related systemic changes. The pathophysiology of diabetic ED involves interacting pathways, including endothelial dysfunction, accelerated atherosclerosis, autonomic and peripheral neuropathy, structural penile changes, hormonal imbalances, and psychological factors. Methods A review of the literature was conducted to examine the pathophysiological mechanisms, genetic associations, and treatment modalities related to diabetic ED. Particular attention was given to studies exploring pharmacogenetics and emerging therapeutic interventions. Results Management is multimodal, including lifestyle changes, counselling, and pharmacological agents (primarily phosphodiesterase type 5 inhibitors (PDE5Is)), but treatment response varies. Genetic studies have identified associations between ED risk/severity and polymorphisms in several candidate genes, including NOS3 (G894T, T786C, VNTR), ARG1/ARG2 (influencing nitric oxide substrate availability), ACE (I/D polymorphism), AR (CAG repeat length affecting androgen sensitivity), and VEGF (promoter polymorphisms). Pharmacogenetic studies suggest that polymorphisms in NOS3, AR, and VEGF may predict response to PDE5Is or testosterone therapy, while ARG1/ARG2 variations might guide future arginase-targeted therapies. Emerging treatments like low-intensity shockwave therapy, platelet-rich plasma, gene therapy, and stem cell therapy show promise but require more robust evidence. Conclusions Diabetic ED is a complex condition driven by multiple pathophysiological mechanisms often influenced by an underlying genetic predisposition. Understanding the interplay between pathophysiology and genetics is crucial for developing personalised treatment strategies. While current therapies offer benefits, variability in response highlights the need for tailored approaches. Further research, especially large-scale pharmacogenetic studies and randomised controlled trials for emerging therapies, is essential to identify reliable biomarkers, optimise treatment selection, and improve outcomes for men with diabetic ED.
Keywords: diabetes mellitus, erectile dysfunction, genetic polymorphisms
Published in DiRROS: 05.12.2025; Views: 126; Downloads: 52
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