Browsing by Issue Date, starting with "2025-07"
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- Instruments for Short-Term (24 h) Violence Risk Assessment and Strategies for Managing Violence Risk Among Adolescents With Risk for Violent Behaviour: A Systematic Review.Publication . Väätäinen, Laura; Björkqvist, Maiju; Li, Yan; Pelto-Piri, Veikko; Ferreira, António; Lantta, TellaShort-term (24 h) violence risk assessment and management can reduce violence in institutional settings, yet they remain understudied in adolescent populations. This systematic review aimed to identify instruments used for short-term violence risk assessment and strategies for managing violence risk among adolescents in institutional settings, as well as to evaluate related outcomes. PRISMA was used as an evidence-based minimum set of items for reporting systematic reviews. The literature search (March 2024 and March 2025) was conducted in PubMed, PsycINFO, Web of Science, CINAHL, The Cochrane Library and Scopus, and references from selected studies were reviewed. Data extraction and analysis were performed in Covidence. Nine studies met inclusion criteria describing six assessment instruments: DASA, DASA-YV, V-RISK-Y, Kennedy Axis V, Pedi-BEWS and BVC. No studies regarding strategies for short-term violence risk management were identified. DASA-YV, BVC and V-RISK-Y predicted violence among adolescents within 24 h (AUC = 0.70-0.95); DASA predicted violence moderately (AUC = 0.50-0.69). Pedi-BEWS (ICC = 0.83) and Kennedy Axis V (ICC = 0.79) demonstrated similar inter-rater reliability. Due to the lack of studies, firm conclusions on the best instrument for clinical practice in institutional settings remained elusive. Further research is necessary to ascertain if youth-specific instruments (e.g., DASA-YV, V-RISK-Y) predict violence more effectively than non-age-specific instruments (e.g., DASA). The lack of youth engagement in violence risk assessment stands out clearly. Scoring was done by the staff, mostly by nurses. Future studies should involve adolescents in the scoring or evaluation of assessment and management. There is a need for evidence-based recommendations for youth engagement.
- Dr. Fernando Matias dos Santos Silva.Publication . Oliveira, Mário Martins
- Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from GATA2 DeficiencyPublication . Kotmayer, Lili; Kozyra, Emilia J; Kang, Guolian; Strahm, Brigitte; Yoshimi, Ayami; Sahoo, Sushree S; Pastor, Victor B; Attardi, Enrico; Voss, Rebecca; Vinci, Luca; Kaiser, Max; Dworzak, Michael N; De Moerloose, Barbara; Sukova, Martina; Starý, Jan; Hasle, Henrik; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kállay, Krisztián; Smith, Owen P; Malone, Andrea; Barzilai Birenboim, Shlomit; Masetti, Riccardo; Buechner, Jochen; Ussowicz, Marek; Kjöllerström, Paula; Bodova, Ivana; Kavcic, Marko; Català, Albert; Turkiewicz, Dominik; Schmugge, Markus; de Haas, Valerie; Okhomina, Victoria I; Sotomayor, Cristian; Catalán, Paula; Wehr, Claudia; Salzer, Ulrich; Germing, Ulrich; Gattermann, Norbert; Bödör, Csaba; Gray, Nathan; Lewis, Sara; Shimamura, Akiko; Giorgetti, Alessandra; Erlacher, Miriam; Niemeyer, Charlotte M; Wlodarski, Marcin WGATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency.
- Individualizing Treatment for CMV with UL97 del597-599 Mutation: Beyond Unusual Response to a Lower Ganciclovir Dose IncreasePublication . Piedade, Ana; Vidal, Helena; Simões, Pilar; Bigotte Vieira, Miguel; Chasqueira, Maria Jesus; Caeiro, Fernando; Aires, Inês; Paixão, Paulo; Jorge, CristinaHuman cytomegalovirus (CMV) infection is the most prevalent infection affecting organ transplant recipients, and it is a cause of morbidity and mortality in patients undergoing kidney transplantation. The introduction of ganciclovir (GCV) for both prophylaxis and treatment has vastly improved patient outcomes. GCV resistance can be caused by mutations in the UL97 phosphotransferase gene or the UL54 polymerase gene. It occurs in 1 to 2% of kidney transplant recipients with CMV infection or disease. Antiviral resistance should be considered when increased viral loads and disease progression are observed despite the administration of adequate antiviral therapy. The degree of resistance varies depending on the type of mutation present. We report a patient with resistance to GCV due to a UL97 del597-599 mutation who, despite typically requiring an 8-fold increase in GCV dose, showed a significant decrease in viral load with just a double dose increase. However, the patient’s overall clinical course remained complicated. Due to severe leukopenia, maribavir had to be started, with a good response. Nevertheless, he ultimately died due to indirect CMV-related complications. This case also highlights the complexity of transplant patients, who present multiple challenges ranging from infections to therapy management.