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Neuropathic skeletal injuries in children are common manifestations of conditions associated with sensory impairment. The underlying aetiologies may be rare entities such as congenital insensitivity to pain or more prevalent disorders such as spinal dysraphisms. While the imaging manifestations of such injuries have been described in adults, the paediatric literature is sparse, primarily comprising case reports and case series with insufficient imaging data. Characteristic imaging findings in patients with neuropathic skeletal injuries include neuropathic arthropathy, avascular necrosis, joint dislocation, repeated fractures with exuberant callus formation, epiphyseal separation, and acro-osteolysis. Conventional radiography, MRI, and CT all contribute to the comprehensive assessment of paediatric neuropathic lesions. This pictorial essay illustrates the spectrum of imaging findings in children with neuropathic skeletal injuries of varying aetiologies as well as their natural evolution and treatment. Critical relevance statement This essay addresses a critical gap in the literature on paediatric neuropathic skeletal injuries, providing a detailed overview of their imaging manifestations, natural progression, and relevant treatment strategies, through contemporary imaging techniques such as radiography, MRI, and CT. Key Points Unrecognised neuropathic skeletal injuries cause progressive permanent deformities, impacting quality of life. Suspect neuropathic arthropathy in children with sensory loss presenting with painless inflamed joints. Neuropathic injuries may be mistaken for osteomyelitis, septic arthritis, or other disorders. Graphical Abstract

This study aims to evaluate the role of MRI-based radiomic analysis and machine learning using both DWI with multiple B-values and dynamic contrast-enhanced T1-weighted sequences to differentiate benign (B) and malignant (M) parotid tumors. Patients underwent DCE- and DW-MRI. An expert radiologist performed the manual selection of 3D ROIs. Classification of malignant vs. benign parotid tumors was based on radiomic features extracted from DCE-based and DW-based parametric maps. Care was taken in robustness evaluation and the no-bias selection of features. Several classifiers were employed. Sensitivity and specificity ranged from 0.6 to 0.8. The combination of LASSO + neural networks achieved the highest performance (0.76 sensitivity and 0.75 specificity). Our study identified a few robust DCE-based radiomic features with respect to ROI selection that can effectively be adopted in classifying malignant vs. benign parotid tumors.

Reason to report Aicardi-Goutières syndrome is a rare congenital multisystem disease of genetic origin, and its manifestations resemble those of an intrauterine infection; therefore, TORCH infection (toxoplasmosis, others, rubella, cytomegalovirus, herpes) is its main differential diagnosis. The classic brain imaging features—leukoencephalopathy, striatal necrosis, intracranial calcifications and atrophy—are well known. Recently, another radiological pattern characterized by large-vessel stenosis, including moyamoya syndrome, and ischaemic lesions, has been reported, mainly with SAMHD1 mutation. What was unique We report a case of a moyamoya syndrome from this unusual cause, in a young child. Ramification of this report The radiologist must be aware of such arterial anomalies, which are poorly reported in the radiological literature, and search for them when performing brain magnetic resonance for Aicardi-Goutières syndrome, even in the absence of a genetic diagnosis. Moreover, in an infant or young child with moyamoya syndrome, Aicardi-Goutières syndrome should be included in the differential diagnoses.

Sarcopenia has been associated with an increased incidence of adverse outcomes, including higher mortality, after endovascular aortic repair (EVAR). We aim to use computed tomography (CT) to quantify changes in total psoas muscles area (PMA) and psoas muscle density (PMD) after EVAR, and to evaluate the reproducibility of both measurements. PMA and PMD were assessed via manual segmentation of the psoas muscle on pre- and post-operative CT scans belonging to consecutive patients who underwent EVAR. Wilcoxon test was used to compare PMA and PMD before and after EVAR, and inter- and intra-reader agreements of both methods were evaluated through Bland–Altman analysis. A total of 50 patients, 42 of them males (84%), were included in the study. PMA changes from 1243 mm2 (1006–1445 mm2) to 1102 mm2 (IQR 937–1331 mm2), after EVAR (p < 0.001). PMD did not vary between pre-EVAR (33 HU, IQR 26.5–38.7 HU) and post-EVAR (32 HU, IQR 26–37 HU, p = 0.630). At inter-reader Bland–Altman analysis, PMA showed a bias of 64.0 mm2 and a coefficient of repeatability (CoR) of 359.2 mm2, whereas PMD showed a bias of −2.43 HU and a CoR of 6.19 HU. At intra-reader Bland–Altman analysis, PMA showed a bias of −81.1 mm2 and a CoR of 394.6 mm2, whereas PMD showed a bias of 1.41 HU and a CoR of 6.36 HU. In conclusion, PMA decreases after EVAR. A good intra and inter-reader reproducibility was observed for both PMA and PMD. We thus propose to use PMA during the follow-up of patients who underwent EVAR to monitor muscle depletion after surgery.

Objective To compare selective serotonin reuptake inhibitors (SSRIs) and nootropic drugs in the reduction of anxiety and depressive symptoms in post-stroke patients. Methods This retrospective cohort study included patients diagnosed with post-stroke depression that were treated with either SSRIs or nootropic drugs (i.e. citicoline or choline alphoscerate). Depression and anxiety were assessed using the Hamilton Rating Scales. Statistical associations between the use of nootropic drugs and mood disorder improvements were determined by measuring assessment scores at 6-months. Results A total of 44 post-stroke patients with depression (aged 45–75 years) were enrolled in the study: 20 were treated with SSRIs and 24 received nootropic drugs. From baseline to follow-up, the SSRI group showed a large effect size with regard depression (success rate difference [SRD] 0.57; 95% confidence interval [CI] 0.21, 0.79) and anxiety (SRD 0.49; 95% CI 0.14, 0.74), whereas the nootropic group showed a small effect size for depression (SRD 0.16; 95% CI –0.17, 0.46) and a small effect size for anxiety (SRD 0.36; 95% CI –0.03, 0.62). Conclusion The administration of nootropic drugs could be a valid therapeutic strategy to manage post-stroke patients suffering from mild–moderate anxiety or anxious-depressive syndrome, but this requires further research.

Head and neck cancer (HNC) has frequently an aggressive course for the development of resistance to standard chemotherapy. Thus, the use of innovative therapeutic drugs is being assessed. Bortezomib is a proteasome inhibitor with anticancer effects. In vitro antitumoral activity of Bortezomib was investigated employing human tongue (SCC-15, CAL-27), pharynx (FaDu), salivary gland (A-253) cancer cell lines and a murine cell line (SALTO-5) originated from a salivary gland adenocarcinoma arising in BALB- neu T male mice transgenic for the oncogene neu. Bortezomib inhibited cell proliferation, triggered apoptosis, modulated the expression and activation of pro-survival signaling transduction pathways proteins activated by ErbB receptors and inhibited proteasome activity in vitro. Intraperitoneal administration of Bortezomib delayed tumor growth of SALTO-5 cells transplanted in BALB- neu T mice, protracted mice survival and adjusted tumor microenvironment by increasing tumor-infiltrating immune cells (CD4 + and CD8 + T cells, B lymphocytes, macrophages, and Natural Killer cells) and by decreasing vessels density. In addition, Bortezomib modified the expression of proteasome structural subunits in transplanted SALTO-5 cells. Our findings further support the use of Bortezomib for the treatment of HNC and reveal its ineffectiveness in counteracting the activation of deregulated specific signaling pathways in HNC cell lines when resistance to proteasome inhibition is developed.

Parkinson’s disease is a neurodegenerative disorder characterized by different motor, vegetative, behavioral, and cognitive impairments, with worsening quality of life. Virtual reality devices have given promising results in neurorehabilitation as they can provide multisensory stimulation in a realistic environment. This study aims to test the efficacy of virtual reality training by using Computer Assisted Rehabilitation Environment in cognitive impairment in a sample of PD. 31 patients affected by PD were enrolled. All PD patients underwent 24 sessions of Computer Assisted Rehabilitation Environment training. The participants were assessed at baseline (T0) and after two months (T1). Our results suggested that Computer Assisted Rehabilitation Environment training may be effective in the cognitive and emotional domains, particularly by improving executive function, anxiety, and depressive symptoms. These changes have helped to improve self-efficacy and coping strategies. These results indicate greater cognitive and physical effort to overcome stressors. Our results show that Computer Assisted Rehabilitation Environment training was beneficial in improving cognitive functions. Longer duration training may be especially beneficial for patients with mild cognitive impairment. Our findings open the door to tailored personalized treatments based on the patient's motor and cognitive profiles.

The use of immune checkpoint inhibitors in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is unknown. Concerns are particularly about their safety, due to their potential capacity to exacerbate inflammatory symptoms. Further, there is a lack of data about their role in controlling the UBA1 clones. In this clinical case, we report a successful use of cemiplimab in a patient with VEXAS syndrome and a concomitant diagnosis of metastatic squamous cell carcinoma.

Background Atezolizumab (A) plus carboplatin-etoposide (CE) represents the new first-line treatment in extensive stage (ES)-Small Cell Lung Cancer (SCLC) patients. This study aims at identifying the association of baseline and dynamic changes of cfDNA, Tumor Fraction (TF) and variant allele frequency (VAF) of tumor-related mutations with median (m) overall (OS) and progression free survival (PFS) in SCLC patients treated with ACE. Materials and methods This is a single-center prospective exploratory study including treatment-naive ES-SCLC patients eligible to first-line ACE. Liquid biopsies were longitudinally collected at baseline (T0), after cycle 1 (T1) and 2 (T2), at disease progression (T3). cfDNA Next Generation Sequencing (NGS) analysis was performed; genomic profiles and TF were inferred from shallow WGS (sWGS). Results Thirty-two patients were included; mPFS and mOS were 5.19 and 7.96 months, respectively. Higher T0 cfDNA (HR 1.44, 95% CI 1.17–1.77, p  = 0.0006) and VAF (HR 2.6, 95% CI 1.36–4.93, p  = 0.0039) were associated with risk of death; higher T0 cfDNA (HR 1.29, 95% CI 1.08–1.54, p  = 0.0049), TF (HR 1.97, 95% CI 1.02–3.82, p  = 0.044) and VAF (HR 2.32, 95% CI 1.22–4.42, p  = 0.01) were predictors of risk of PD. Among the dynamic changes in the biomarkers under investigation, the association of 10-unit increase of VAF T0-T1 and T0-T2 with OS (HR 1.38, 95% CI 1.01–1.88, p  = 0.043; HR 1.56, 95% CI 1.21–2.16, p  = 0.008) and PFS (HR 1.69, 95% CI 1.18–2.43, p  = 0.004; HR 1.81, 95% CI 1.22–2.70, p  = 0.003) was estimated. Conclusion T0 and dynamic changes of cfDNA, TF and VAF may help physicians to stratify ES-SCLC patients receiving first-line ACE and to anticipate the clinical course of the disease.

BackgroundSpinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by survival motor neuron (SMN1) deletion. While loss of ambulation in SMA type III typically occurs at a median age of 13.4 years, outcomes in the treatment era remain unclear. This study aims to address that gap by investigating ambulation outcomes in individuals with type III receiving disease-modifying therapies.MethodsThis retrospective study analysed prospectively collected international data. Time-dependent Cox models assessed the association between treatment initiation and age at loss of ambulation, adjusting for age at onset, sex, SMN2 copies, birth year and country. Treatment was modelled as a time-dependent covariate to avoid immortal time bias. Descriptive analyses used Mann-Whitney U and χ² tests.ResultsAmong 555 individuals with type III, treatment halved the risk of ambulation loss (HR=0.50), with median loss at 44 vs 32 years in treated and untreated groups. Later onset, ≥4 SMN2 copies and female sex were also protective. The treatment effect was significant in type IIIA (HR=0.34) but not IIIB, with no significant interactions by sex, country or SMN2, though effects remained directionally protective.ConclusionsTreatment in type III reduced the risk of ambulation loss by 50%, extending median ambulation by 12 years, with the greatest benefit in type IIIA. Later onset, female sex and higher SMN2 copy number were also protective but did not modify treatment effect. These findings underscore the value of early treatment and support its broad use to preserve ambulation across clinical subgroups.