Search Results (325)

Background: Gorlin syndrome (GS) is a rare autosomal dominant disorder, associated with pathogenic PTCH1 or SUFU variants, predisposing to tumors such as basal cell carcinoma, medulloblastoma (MB), odontogenic keratocyst, and, rarely, cardiac fibroma (CF). MB occurs in ~5% of GS cases, typically in early childhood, while CF appears in 1–3%. Their coexistence in childhood is extremely rare. This report describes a pediatric GS case with synchronous MB and CF, focusing on the management priorities between oncologic and cardiac interventions. Methods: A 15-year follow-up is reported for a girl diagnosed at 22 months with desmoplastic/nodular MB and left ventricular CF. GS diagnosis was based on clinical features, imaging, and confirmation of a pathogenic PTCH1 variant (c.3306+1G>T). A literature narrative review on CF in GS was also conducted. Results: MB gross total resection was followed by chemotherapy, during which ventricular tachycardia episodes occurred, managed with cardioversion and antiarrhythmics. Given the favorable prognosis of early-treated MB in GS, oncologic therapy was prioritized. Cardiac status was monitored with ECG, Holter, echocardiography, and cardiac MRI. An adapted AIEOP protocol minimized cardiotoxicity. CF was managed conservatively, with no further arrhythmias and preserved ventricular function throughout 15 years. MB has not recurred. Conclusions: In GS patients with concurrent MB and CF, prioritizing MB treatment and adopting a conservative, closely monitored approach to CF can yield excellent long-term outcomes. In children with MB, especially syndromic forms, routine echocardiography is recommended to detect CF. This case underscores the value of multidisciplinary care in managing complex GS presentations. Full article

Intestinal dysbiosis represents a critical determinant of clinical outcomes in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Distinct microbiota patterns represent potential prognostic biomarkers and therapeutic targets. However, the exponential growth in microbiota research and analytical complexity has created significant interpretive challenges for clinicians. This review provides a synthesis of current literature examining microbiota fingerprints and their clinical implications. We analyzed key studies evaluating the clinical implications of intestinal microbiota fingerprints in allo-HSCT. Additionally, we examined current therapeutic strategies for microbiota modulation and approaches for translating research findings into clinical practice. We identified three major microbiota fingerprints: (1) decreased intestinal microbiota diversity, (2) reduced abundance of short-chain fatty acid-producing bacteria, and (3) Enterococcus domination. These fingerprints are associated with critical clinical outcomes including overall survival, Graft-versus-host disease, transplant-related mortality, and infection-related complications. While fecal microbiota transplantation and dietary interventions appear promising, current studies suffer from limited sample sizes and lack standardized protocols. Despite significant advances in microbiota research, biological, methodological, and logistical challenges continue to hinder its clinical translation. Understanding microbiota fingerprints represents a promising avenue for improving allo-HSCT outcomes. However, successful clinical implementation requires standardized methodologies, mechanistic studies, and multi-center collaborations to translate research into actionable clinical tools. Full article

Light conversion (LC^®) films represent a novel approach to modulating the light spectra in protected horticulture. The present study evaluated the effects of two LC^® polyethylene films on the growth and fruit quality of Fragaria × ananassa ‘Marimbella’ strawberries, cultivated using a soilless system in a double-roof greenhouse from March to June. The following films were used: blue (B), which converts UV to blue light, and pink (P), which converts UV and green light to blue and red wavelengths. These treatments were compared with a transparent film (T) and an uncovered sample (Control). The B film enhanced net photosynthesis (+9%) and stomatal conductance (+11%) compared to the Control, with no effect on intercellular CO₂ concentration or PSII efficiency. Under the B film, fruit yield increased by 34 and 44% compared to the Control and T, respectively, although single fruit weight, fruit width, and fruit height decreased. The P film did not significantly influence the yield but improved fruit quality, increasing soluble solids (+30%) and ascorbic acid (+29%) content compared to the Control and T, respectively. At harvest time, both LC^® films promoted the accumulation of total phenolic content (+17% vs. T). At the same time, the highest antioxidant activity was observed in Control fruits. Notably, the B film reduced post-harvest Botrytis cinerea development (−37% vs. T) at 72 h after inoculation. These findings highlight the potential of LC^®—particularly the B film—to be used as a sustainable tool to improve yield, quality, and post-harvest disease resistance in greenhouse strawberry production systems. Full article

This study analyzes the role of positive parenting, encompassing affection, responsiveness, encouragement, and teaching, on 79 children’s negativity aged 10 to 24 months during interactions with their adolescent mothers (aged 15 to 21). Parenting behaviors were evaluated using the Spanish version of the Parenting Interactions with Children: Checklist of Observations Linked to Outcomes (PICCOLO). Maternal well-being was assessed using the Spanish version of the Hospital Anxiety and Depression Scale (HADS). At the same time, the Ages and Stages Questionnaire-Socioemotional Development (ASQ-SE) measured mothers’ perceptions of their children’s socioemotional development. Children’s negativity was assessed using the Subscale of Negativity from the Early Head Start Research and Evaluation Project (EHSREP Negativity Subscale). Bivariate analysis revealed a significant association between maternal affection, responsiveness, encouragement, higher maternal anxiety, and maternal perceptions of their children’s socioemotional development with children’s negativity regarding anger, hostility, or dislike toward their mothers during interaction. Moreover, multivariate regression analysis showed that maternal affection, responsiveness, anxiety, and perceptions of children’s socioemotional development could predict negativity. The study underscores the significance of positive parenting, maternal well-being, and perceptions of children’s socioemotional development to prevent high levels of children’s negativity. Full article

Background/Objectives: Motor difficulties are commonly reported in autistic individuals, but they are not currently part of the diagnostic criteria. A better understanding of how motor impairments are assessed in this population is critical to inform clinical practice and intervention. This systematic review aims to evaluate the existing literature on motor skill assessment in autistic children and adolescents, focusing specifically on studies that employed standardized and validated clinical motor assessment tools. Methods: Registered on PROSPERO (CRD42025637880), a systematic search was conducted on PubMed, Science Direct, and Web of Science until 31 December 2024. The review includes: (a) studies published in peer-reviewed journals; (b) randomized controlled trials (RCTs) and observational studies; (c) evaluations of motor difficulties using standardized and validated clinical assessments specifically designed to measure motor skills or coordination abilities; (d) participants diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV or DSM-5) or the International Classification of Diseases (ICD-9 or ICD-10); and (e) participants aged ≤18 years; Results: Twenty-two studies met the inclusion criteria. Most studies reported significant motor impairments across various domains, including balance, manual dexterity, and coordination. However, there was substantial variability in the severity of motor deficits and in the assessment tools used. Methodological heterogeneity limited direct comparison across studies. Conclusions: Motor impairments are common in autistic children and adolescents; however, current assessment tools show limitations and require adaptations. The findings underscore the need for autism-specific motor assessments to improve diagnostic accuracy and guide personalized interventions. Full article

Background/Objectives: Pediatric acquired demyelinating syndromes (ADSs) encompass a heterogeneous group of disorders, including multiple sclerosis (MS), MOG antibody-associated disease (MOGAD), and neuromyelitis optica spectrum disorder (NMOSD), with distinct clinical trajectories and prognoses. While analyzed collectively at baseline to reflect real-world diagnostic uncertainty, outcome predictors were also examined according to final diagnosis. Identifying early predictors is crucial for optimizing long-term outcomes. Methods: We retrospectively analyzed 30 pediatric patients (mean onset age: 11.3 years) with ADSs. Clinical, radiological, CSF, antibody, and neurophysiological data were collected and analyzed alongside treatment strategies. Outcomes—EDSS scores, neuroradiological changes, and clinical status—were evaluated over a 3-year period. Results: Final diagnoses included MOGAD (36.6%), MS (33.3%), NMOSD (6.6%), ADEM (10%), and other ADSs (13.3%). At onset, ≥3 brain lesions were present in 76.7% of patients. Disease-modifying therapies (DMTs) were used in 37% and acute immunotherapy in 90%. EDSS progression was significantly associated with DMT use at multiple timepoints, with additional predictors including MRI lesion type, CSF findings, antibody status, and evoked potentials. At 3 years, neurocognitive function predicted clinical outcome. Conclusions: Early immunotherapy and baseline instrumental findings are key predictors of outcome in pediatric ADSs. MOGAD showed a more favorable course, while MS and NMOSD were associated with greater long-term disability. A comprehensive, early diagnostic approach is essential for improving prognosis. Full article

We report the first case of pleural mesothelioma (PM) occurring in a child affected by NF2-related schwannomatosis (NF2-SWN) and without any history of environmental exposure to asbestos. Mesothelioma is a rare secondary tumor in brain cancer patients and the association with NF2-SWN has been described only in a few anecdotal cases and never in the pediatric field. NF2-SWN is an autosomal dominant disease caused by inactivating germline mutations of the NF2 tumor suppressor gene, one of the most common mutations associated with human primary mesothelioma too. By MLPA assay, array-CGH analysis, and NGS on blood and tumor DNA, we determined the mutation profile of this rare NF2-driven PM and we identified several atypical chromosomal aberrations in tumor cells, suggesting a different genomic signature between pediatric and adult mesothelioma. Full article

Background/Objectives: In the context of preclinical studies, we have hitherto showcased that a low-molecular-weight ruthenium(III) complex we named AziRu holds significant potential for further developments as an anticancer candidate drug. When appropriately converted into stable nanomaterials and delivered into tumor cells, AziRu exhibits superior antiproliferative activity, benefiting from a multimodal mechanism of action. The activation of regulated cell death (RCD) pathways (i.e., apoptosis and autophagy) has been proved in metastatic phenotypes, including triple-negative breast cancer (TNBC) cells. This study focuses on a bioengineered lipophilic derivative of AziRu, named PalmiPyRu, that we are currently developing as a potential anticancer drug in preclinical studies. When delivered in this way, AziRu confirms a multimodal mechanism of action in effectively blocking the growth and proliferation of TNBC phenotypes. Special focus is reserved for the activation of the ferroptotic pathway as a consequence of redox imbalance and interference with iron homeostasis, as well as the glutathione biosynthetic pathway. Methods: Human preclinical models of specific TNBC phenotypes and healthy cell cultures of different histological origin were selected. After in vitro treatments, cellular responses were carefully analyzed, and targeted biochemical and molecular biology experiments coupled to confocal microscopy allowed us to explore the antiproliferative effects of PalmiPyRu. Results: In this study, we unveil that PalmiPyRu can enter TNBC cells and interfere with both the iron homeostasis and the cystine-glutamate antiporter system Xc-, causing significant oxidative stress and the accumulation of lipid oxidation products. The increase in intracellular reactive free iron and depletion of glutathione engender a lethal condition, driving cancer cells toward the activation of ferroptosis. Conclusions: Overall, these outcomes allow us, for the first time, to couple the antiproliferative effect of a ruthenium-based candidate drug with the inhibition of the Xc- antiporter system and Fenton chemistry, thereby branding PalmiPyRu as an effective multimodal inducer of ferroptosis. Molecular mechanisms of action deserve further investigations, and new studies are underway to uncover how interference with Xc- controls cell fate, allowing us to explore the connection between iron metabolism regulation, oxidative stress and RCD pathways activation. Full article

Anurans, commonly known as frogs and toads, comprise a diverse group of amphibians distributed across all continents except Antarctica. This manuscript provides a detailed overview of the global anuran fauna, emphasizing their biology, remarkable adaptations, and ecological importance. A particular focus is placed on their specialized cutaneous glands, which are crucial for defense, communication, and survival. These glands secrete a diverse array of bioactive compounds, including peptides, alkaloids, and other secondary metabolites, shaped by evolutionary pressures. Among these compounds, toxins with potent antimicrobial properties stand out due to their ability to combat a broad spectrum of microbial pathogens. We explore the chemical diversity of these secretions, analyzing their modes of action and their potential applications in combating antibiotic-resistant bacteria and other pathogens. By integrating knowledge, this study underscores the importance of anurans as both ecological keystones and a valuable resource for biotechnological innovations. Furthermore, it highlights the urgent need to conserve anuran biodiversity for harnessing their potential in the development of novel antimicrobial agents to address global health challenges. Full article

Starting from the Industrial Revolution in the 18th century to date, urban areas have faced increasing environmental challenges due to the diffusion of harmful substances, resulting from vehicular traffic, the activities of different industries, waste, and building construction, etc. These pollutants are dangerous, since they pose a threat to both the environment and human health. Phytoremediation is an environmentally friendly and low-cost technique that uses plants and their associated microorganisms to clean-up contaminated sites. In this review, we explore its main applications in urban settings. Specifically, we investigate how phytoremediation works, highlighting the most effective plants for its success in a city context. Moreover, we also describe the main factors influencing its effectiveness, such as soil, climate, and pollutants. In this regard, several case studies, conducted worldwide, have reported on how phytoremediation can successfully reclaim contaminated areas, transforming them into reusable city green spaces, with reduced costs compared to traditional remediation techniques (e.g., soil replacement, soil washing, etc.). Moreover, by integrating it into urban planning, cities can address environmental pollution, while promoting biodiversity, enhancing the landscape, and increasing its social acceptance. This nature-based solution offers a practical path toward more sustainable and resilient urban environments, especially in regard to the climate change framework. Full article

Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the progressive loss of motor neurons and consequent muscle atrophy. Although SMN-targeted therapies have significantly improved survival and motor outcomes, residual muscle weakness remains a major clinical challenge, particularly in patients treated later in the disease course. Myostatin, a potent negative regulator of skeletal muscle mass, has emerged as a promising therapeutic target to address this gap. This review summarizes the preclinical and clinical evidence supporting the modulation of the myostatin pathway in SMA. Preclinical studies have demonstrated that inhibiting myostatin, especially when combined with SMN-enhancing agents, can increase muscle mass, improve motor function, and enhance neuromuscular connectivity in SMA mouse models. These findings provide a strong rationale for translating myostatin inhibition into clinical practice as an adjunctive strategy. Early clinical trials investigating myostatin inhibitors have shown favorable safety profiles and preliminary signs of target engagement. However, large-scale trials have yet to demonstrate widespread, robust efficacy across diverse patient populations. Despite this, myostatin pathway inhibition remains a compelling approach, particularly when integrated into broader treatment paradigms aimed at enhancing motor unit stability and function in individuals with SMA. Further clinical research is essential to validate efficacy, determine optimal timing, and define the patient subgroups most likely to benefit from myostatin-targeted therapies. Full article

Background and Clinical Significance: The incidence of persistent ductus arteriosus (PDA) in preterm infants is the highest and depends on their birth weight (BW) and respiratory condition after birth. Previously, after the unsuccessful drug treatment, surgical ligation was the primary treatment option. However, according to clinical studies, the Amplatzer Piccolo Occluder was approved for PDA closure for patients ≥700 g. In our country, percutaneous PDA embolization has not been performed yet. Case Presentation: We present three premature infants with hemodynamically significant patent ductus arteriosus (hsPDA) in whom percutaneous occlusion was performed using the Amplatzer Piccolo Occluder (APO). The average gestational week (GW) was 27 ± 1, while body weight was 1030 ± 60 g. All patients had respiratory deterioration, with dilatation of the left heart chambers, and renal failure. The second developed a severe form of broncho-pulmonary dysplasia. Transthoracic echocardiography (TTE) examinations revealed a hemodynamically significant PDA (LA/Ao 1.8–2.2) and medical closure was unsuccessfully carried out. Due to the hemodynamically significant PDA maintenance in all neonates, transvenous PDA closure was performed using the APO (APO 9-PDAP-04-02-L, 9-PDAP-04-04-L, 9-PDAP-05-054L, respectively). The entire devices, with both retention discs, are implanted within the duct. TTE pointed out adequate device position without descending aorta, left pulmonary artery obstruction, residual shunt, and reverse remodelling of the left ventricle and left atrium. The first newborn was weaned from mechanical ventilation three days after the procedure and discharged three weeks after. The second patient was extubated 2 weeks after the procedure, and even the severe BPD, X-ray showed improvement. The third patient’s renal failure completely resolved, weaned from inotropic drug support and mechanical ventilation. Conclusions: Due to a significantly lower complication rate than surgical ligation, we will strive to make percutaneous PDA occlusion a new standard for treatment in newborns, especially preterm newborns, in our country. Full article

The role of humidity on the ageing of celluloid is investigated by performing accelerated ageing tests on mock-up samples. At 70 °C, three levels of relative humidity (RH) are selected: 30%, 50%, and 70%. Samples are monitored for the macro- and micro- changes occurring through ageing to relate the visible modifications to the molecular ones. Infrared and Raman spectroscopy, microscopy, mass and contact angle measurements, profilometry, and colourimetry are combined for this purpose. While the ageing test at 30% RH results in a slight embrittlement of the samples and small spectral changes, the one at 50% RH induces significant modifications at the molecular level and the formation of cracks, while the one at 70% RH causes a fast deformation of the samples and the development of bubbles. Although quite diverse, such results prove to be related to the same chemical processes: denitration, chain scission, and oxidation. These occur more promptly or extensively based on humidity level, resulting in different outcomes. Beyond morphology and brittleness, macroscopic effects also involve mass loss, surface roughening, and yellowing. A possible correlation between the macro and micro modifications is present, highlighting the influence humidity has on the degradation process of celluloid. Full article

Job crafting—employees’ proactive modification of their work—has gained attention as a potential stress management strategy. This study examined how job crafting dimensions moderate relationships between work conditions and stress perceptions. Integrating Effort–Reward Imbalance and Job Demands–Resources models, we tested whether three job crafting dimensions (increasing structural resources, social resources, and challenging demands) moderate the translation of factual work conditions into stress perceptions. Survey data from 376 Italian employees revealed that factual effort and reward indicators positively predicted their perceived counterparts. Contrary to expectations, increasing structural resources amplified rather than buffered the effort perception relationship, suggesting that certain crafting strategies may heighten rather than reduce awareness of work demands. As hypothesized, increasing social resources buffered the effort relationship and strengthened the reward relationship. Increasing challenging demands showed no significant moderating effects. These findings reveal that job crafting dimensions have differential rather than uniformly positive effects on stress perception processes. While social crafting appears consistently beneficial, structural crafting may have unintended consequences under certain conditions. Organizations should recognize that job crafting interventions require nuanced implementation. The study advances theory by demonstrating boundary conditions for job crafting effectiveness and challenging assumptions about its uniformly positive effects. Full article

Background: The objective of this review is to demonstrate the efficacy of mifepristone as an inducing agent of labor by analyzing its impact on cervical maturation and maternal and neonatal outcomes. The research results showed that mifepristone facilitates cervical ripening and enhances uterine sensitivity. Methods: A narrative review of the literature was conducted to descriptively summarize and compare available data. No formal meta-analytic model was applied. The analysis was descriptive and based on pooled aggregated data without the use of inferential modeling. Studies published through November 2024 were retrieved using the Medline, Ovid, Scopus, and Web of Science databases. The search was based on a combination of keywords: “mifepristone”, “induction”, and “labor”. Randomized clinical trials and prospective and retrospective studies concerning full-term pregnancies with unfavorable cervices were included, while studies concerning termination of pregnancy or intrauterine death were excluded. The outcomes analyzed included cesarean section rates, neonatal intensive care unit admissions, and oxytocin and prostaglandin use. Results: Ten studies were analyzed, with a total of 1561 patients. The use of mifepristone showed a reduction in the use of oxytocin (RR = 0.84; 95% CI: 0.70–1.01), although this difference did not reach statistical significance (p = 0.065), and a highly significant reduction in prostaglandin use (42.7% vs. 78.9%; RR = 0.54; 95% CI: 0.48–0.60; p < 0.0001), with no significant difference in cesarean section rate (18.9% vs. 23.6%; RR = 0.80; 95% CI: 0.63–1.01; p = 0.068). However, a significantly higher rate of neonatal ICU admissions was observed in the mifepristone group (13.9% vs. 9.3%; RR = 1.48; 95% CI: 1.08–2.02; p = 0.014). Only studies excluding patients with a previous cesarean section were included for the analyses of cesarean sections, oxytocin, and prostaglandin use, while all studies were retained for NICU evaluation. Conclusions: Mifepristone represents a promising option for labor induction due to its ability to improve cervical maturation and reduce the need for additional uterotonic agents. Our pooled analysis confirmed a significant reduction in prostaglandin and oxytocin use, and a non-significant trend toward fewer cesarean deliveries. However, the observed increase in NICU admissions in the mifepristone group raises important concerns regarding neonatal safety. Further studies are needed to investigate whether this association reflects underlying clinical factors, variations in NICU admission policies, or a true pharmacological effect. Future research should focus on optimizing dosing regimens, identifying patient subgroups who benefit most, and clarifying neonatal outcomes through long-term follow-up. Full article