ABSTRACT Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting‐specific approaches to assessment. Understanding how patients perceive the impact of SCD on their health, daily functioning, and treatment experiences within their own context is essential to identifying unmet needs, addressing barriers to care, challenging misconceptions, and improving health‐related quality of life (HRQoL). Methods This cross‐sectional study assessed HRQoL in children, adolescents, and young adults (AYAs) with SCD in Italy, and evaluated the impact of sociodemographic, clinical, and hematological variables, exploring discrepancies between patient and caregiver perceptions. Results Fifty‐three patients aged 6–26 years and 62 caregivers of patients were enrolled. Half of patients showed moderate HRQoL compromise in at least three domains (pain interference and intensity, fatigue), with two‐thirds experiencing recent pain. AYAs demonstrated significantly worse outcomes than children in pain interference ( p = 0.0001), pain intensity ( p = 0.0039), depression ( p = 0.0273), and fatigue ( p = 0.0298). Caregiver–patient agreement was consistently low, particularly among adolescents. Young adults reported inadequate emotional support despite moderate instrumental support, with all expressing a need for psychological assistance. Conclusion This first assessment of HRQoL in Italian youths with SCD identifies adolescence as a critical vulnerability period with worsening outcomes and unrecognized emotional needs. Significant patient–caregiver perception discrepancies highlight unmet needs. Findings underscore the need to integrate HRQoL measures into routine care and develop targeted interventions for adolescents, including enhanced psychological support and structured transition programs.
ABSTRACT Neuroblastoma is the most common extracranial solid tumor in early childhood. Its clinical behavior is highly variable, ranging from spontaneous regression to fatal outcome despite intensive treatment. The International Society of Pediatric Oncology Europe Neuroblastoma Group (SIOPEN) Radiology and Nuclear Medicine Specialty Committees developed consensus‐based imaging recommendations for high‐risk neuroblastoma at first presentation and throughout follow‐up. These expert opinions aim to improve reproducibility and enhance diagnostic performance in order to advance the current standard of care and assist in the development of future trials.
ABSTRACT Introduction Stark disparities in pediatric cancer outcomes persist between high and low sociodemographic index (SDI) regions due to fragmented healthcare systems and limited subspecialty expertise. In Pakistan, where pediatric radiation oncology expertise is not widely available, ensuring quality assurance (QA) is critical to mitigate errors that can lead to suboptimal treatment outcomes and long‐term consequences in children. To address this, virtual Pediatric Radiation Oncology Peer Review Meetings (PROPRMs) were initiated in 2022 to foster collaborative decision‐making and standardize treatment across the country. Methods This study analyzed data from June 2022 to March 2025 from virtual PROPRM sessions organized by the Aga Khan University Hospital. Multidisciplinary meetings involving radiation and pediatric oncologists from multiple centers across the country transitioned from monthly to fortnightly. Case volume, clinical diagnoses, and management adjustments were documented and analyzed using descriptive statistics. Results A total of 130 cases were reviewed across 46 sessions. The most common diagnostic categories were soft‐tissue sarcomas (33.8%) and bone tumors (16.2%). Notably, consensus‐driven changes in management were recommended in 70.8% of cases. The primary modifications (43.1%) directly involved radiation therapy (RT) planning, specifically regarding radiotherapy dose, technique, and organ‐at‐risk (OAR) constraints. The sessions also identified recurring educational gaps and systemic needs for improved multidisciplinary coordination. Conclusion The virtual PROPRM model is a feasible and effective strategy for centralizing specialized expertise and improving QA in resource‐limited settings. By identifying systemic gaps and standardizing care, this framework offers a sustainable pathway toward reducing global disparities in childhood cancer outcomes.
The maintenance of protein homeostasis is a fundamental premise for the survival of all life. The synthesis, folding, localization, and degradation of thousands of proteins must be organized according to various conditions. To ensure such a stable and functional proteome, the proteostasis network evolved. Dedicated to this, the fourth School on Proteostasis, a co‐funded EMBO|FEBS Lecture Course in memory of Susan Lindquist, took place in Espoo, Finland on 16–19 September 2025, with 59 early career researchers (PhD students or postdoctoral fellows), 18 leading scientists, and two editors attending and discussing the current state of the field. From basic principles to the latest therapeutic developments, this meeting provided a comprehensive overview of proteostasis. This report summarizes the lecture course and highlights selected presentations.
Circadian clocks are endogenous timekeeping mechanisms that are phylogenetically widespread. Despite the immense diversity of bacterial life, to date, clocks have been identified in few bacterial species. The cyanobacterial clock is understood in great detail, and the roles of its clock proteins in other types of timing mechanisms and in stress resistance are being studied in an ever‐growing range of species. Studies of host‐associated microbiomes have shown that host and microbial rhythmicity impact one another reciprocally. However, bacterial rhythms have primarily been studied in species in isolation or in host‐associated microbiomes. Here, we summarize the state of the field of microbial chronobiology and propose the hypothesis that rhythmicity could be an emergent property of microbial interactions in free‐living bacterial communities.
The detection of actionable mutations in liquid biopsies is a crucial tool for precision oncology in patients with non‐small‐cell lung cancer (NSCLC). We evaluated actionable alterations using a multigene panel in circulating tumor DNA (ctDNA) from Brazilian NSCLC patients. We analyzed 32 samples from 30 patients with NSCLC, including four samples from a lung cancer screening program. ctDNA isolation and library preparation were performed using the Oncomine Lung cfDNA Assay, which covers 11 actionable genes, and sequenced on an Ion S5 Sequencer. The IonReporter 5.20 software was used for variant calling. Median read coverage reached 80 967, with a detection limit of 0.1%. TP53 (40.6%) , KRAS (28.1%), and EGFR (12.5%) were the most frequently mutated genes, particularly in patients who had previously received treatment. BRAF, MAP2K1, PIK3CA, and ALK mutations were observed at lower frequencies (6.2%, 3.1%, 3.1%, and 3.1%, respectively). The EGFR p.T790M mutations related to resistance were identified in a patient who had been previously treated, and the TP53 p.R248Q mutation was discovered in an asymptomatic patient before diagnosis. No variants were observed in NRAS, ROS1, and MET genes. Our data showed that this commercial NGS panel could detect actionable mutations, enabling early detection, treatment monitoring, and disease surveillance.
The European Code Against Cancer (ECAC) provides evidence‐based recommendations to help individuals reduce their cancer risk. For the 5th edition (ECAC5), recommendations on ultraviolet radiation (UVR) and indoor radon exposures were updated, and complementary recommendations for policymakers were introduced. UVR and radon are classified as carcinogenic to humans (group 1 carcinogens) in the International Agency for Research on Cancer (IARC) Monographs. Solar UVR and, to a lesser extent, artificial forms of UVR exposure are major causes of skin cancer, while radon gas is a leading cause of lung cancer. This paper summarises the evidence for retaining and refining these recommendations. For individuals, ECAC5 advises avoiding excessive sun exposure, especially in children, using sun protection, and never using sunbeds; for radon, checking local radon maps, seeking professional measurement where appropriate and taking remedial action, if necessary, are recommended. For policymakers, ECAC5 encourages harmonised UVR protection measures across the European Union, enforcement of regulations concerning indoor tanning devices, and enabling access to testing of radon levels, and support for mitigation and remediation. These recommendations provide actionable, evidence‐based recommendations to help reduce cancer risk and align with Europe's Beating Cancer Plan.