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BACKGROUND: Covid-19 has dramatically increased the number of admissions in intensive care units due to respiratory complications. In some cases, the arousal of neurological impairments, such as peripheral neuropathies, have been revealed. The purpose of this research was to characterize the gait pattern and muscle activity changes in Covid-19 survivors compared to physiological gait. METHODS: Twelve post-Covid-19 participants admitted to intensive care units and twelve non-disabled controls were considered. Kinematics, kinetics and surface electromyographic data were collected for each participant during walking. Post Covid-19 participants were further divided into two sub-groups, according to the number of days spent in the intensive care units. Lower limb joint angles, moments and powers were extracted as well as the muscle activity of four muscles bilaterally, the spatial, temporal and spatiotemporal parameters of gait and the ground reaction forces. The extracted variables were compared through OneWay-ANOVA or Kruskal-Wallis tests where appropriate (p < 0.05). FINDINGS: Overall, the considered parameters revealed statistically significant reduction in gait speed, cadence, range of motion in the sagittal plane, anteroposterior and vertical ground reaction forces between pathological and control participants. Larger alterations of the gait patterns were highlighted in the post-Covid-19 group hospitalized in intensive care units longer than 35 days, where a reduced muscle activity was observed on all the analyzed muscles. INTERPRETATION: Results suggested that the severity of gait impairments in post-Covid-19 participants might be correlated with intensive care units-bedding period. Gait biomechanics assessment could be adopted in the clinical decision-making process to improve treatment protocols in post-Covid-19 survivors.
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COVID-19 , Marcha , SARS-CoV-2 , Sobrevivientes , Caminata , Humanos , COVID-19/fisiopatología , Masculino , Persona de Mediana Edad , Femenino , Fenómenos Biomecánicos , Análisis de la Marcha/métodos , Electromiografía , Rango del Movimiento Articular , Músculo Esquelético/fisiopatología , Anciano , Unidades de Cuidados Intensivos , AdultoRESUMEN
Photopic negative response (PhNR), an index of retinal ganglion cell (RGC) function, is impaired in patients with optic pathway gliomas (OPGs). The aim of this longitudinal study was to evaluate whether PhNR deteriorates over time in OPG patients. Fourteen pediatric patients affected by OPG (4 males and 10 females, mean age 12.4 ± 5.7 years, 8 with neurofibromatosis type 1 [NF1]) with ≥12 months of follow-up and ≥2 evaluations, were included in this retrospective study. All patients had received chemotherapy, with or without OPG surgical resection, at least 5 years prior to the study. At baseline, all patients underwent a complete ophthalmological examination. Follow-up included clinical examination and PhNR measurement as well as brain MRI (according to pediatric oncologist indications) every 6 or 12 months. Mean follow-up duration was 16.7 ± 7.5 months (range 12-36 months). Photopic electroretinograms were elicited by 2.0 cd-s/m2 Ganzfeld white flashes presented on a steady 20 cd/m2 white background. The PhNR amplitude was measured as the difference between baseline and the maximal negative amplitude (minimum) of the negative wave, following the photopic b-wave. Compared to baseline, mean PhNR amplitude was significantly decreased at the end of follow-up (p = 0.008). NF1-related OPGs exhibited a decline in PhNR amplitude (p = 0.005) and an increase in PhNR peak-time during the follow-up (p = 0.013), whereas sporadic OPGs showed no significant changes. Tumor size remained stable in all patients on MRI. PhNR amplitude decreased over the observation period, suggesting progressive RGC dysfunction in NF1-related pediatric OPGs, despite stable size on MRI imaging. PhNR could serve as a non-invasive objective tool for assessing longitudinal changes in RGC function in the clinical management of childhood OPG.
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Background: Infantile fibrosarcoma (IFS) is the most prevalent soft tissue sarcoma in children under 1 year old and is known for its rapid growth. The tumor lacks specific immunohistochemical tumor marker and a general view of tumor microenvironment (TME). Its primary therapeutic intervention places patients at a risk of disability or mutilation. This study aimed to elucidate the universal transcriptional characteristics of IFS and explore novel targets for diagnosis and therapy using single-cell RNA sequencing (scRNA-seq). Methods: Fresh tissue samples of IFS for scRNA-seq were collected from four patients before other treatments were administered. We conducted cell clustering, inferring copy number variation from scRNA-seq (InferCNV) analysis, gene differential expression analysis, cell function evaluation, Pearson correlation analysis, and cell-cell and ligand-receptor interaction analysis to investigate the distinct ecosystem of IFS. Results: According to the single-cell resolution data, we depicted the cell atlas of IFS, which comprised 14 cell populations. Through comparison with normal cells, the malignant cells were distinguished, and potential novel markers (POSTN, IGFBP2 and CTHRC1) were identified. We also found four various functional malignant cell subtypes, three of which exhibited cancer stem cells (CSCs) phenotypes, and investigated the interplay between these subtypes and nonmalignant cells in the TME of IFS. Endothelial cells and macrophages were found to dominate the cell-cell communication landscape within the microenvironment, promoting tumorigenesis via multiple receptor-ligand interactions. Conclusions: This study provides a comprehensive characterization of the tumor transcriptome and TME of IFS at the cellular level, offering valuable insights for clinically significant advancements in the immunohistochemical diagnosis and treatment of IFS.
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BACKGROUND: Family members dealing with the devastating impact of a cancer diagnosis are now facing even greater vulnerability due to the COVID-19 pandemic. Alongside the already overwhelming trauma, they must also bear the distressing burden of the infection risks. The purpose of this study was to examine and explore the effects in parents of pediatric cancer patients two years after the start of the COVID-19 pandemic to compare these data with the previous data. METHODS: We conducted a single-center prospective observational study, enrolling 75 parents of 42 pediatric oncology patients. Four questionnaires (IES-R; PSS; STAI-Y and PedsQL) were given to the parents 2 years after the first evaluation. RESULTS: The bivariate matrix of correlation found a strong significant positive correlation between IES-R and PSS scores (r = 0.526, p < 0.001) as in T1. Stress symptoms (t = 0.00, p < 0.001) and levels of anxiety (trait) (t = 0.32, p < 0.001) remained unchanged; anxiety state levels appeared to have increased (t = 0.425, p < 0.001); there was a significant decrease in the PedsQL tot (t = 5.25, p < 0.001). CONCLUSIONS: The COVID-19 pandemic has influenced the levels of stress and anxiety of parents and the quality of life of patients, also correlating with the traumatic impact of the diagnosis.
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BACKGROUND: According to scientific literature, burnout can be described as a multidimensional syndrome with three fundamental dimensions: emotional exhaustion, depersonalization and reduced personal accomplishment. Every day, clown-doctors, play therapists, teachers and volunteers, such as ceramic art therapists, work in pediatric cancer wards to improve the quality of life of hospitalized children and activate positive resources during their therapeutic journey. METHODS: This study investigated burnout levels and the relationship between work-related stress and resilience in a total of 36 operators (clown-doctors, in-hospital teachers, play therapists, and ceramic art therapists), working at the Unit of Pediatric Oncology of IRCCS A. Gemelli University Polyclinic Foundation in Rome, Italy. All participants completed a battery of questionnaires to evaluate burnout (Maslach Burnout Inventory) and resilience (Connor-Davidson Resilience Scale). RESULTS: The results of this study show that these workers are exposed to work-related stress and that the burnout levels are not homogeneous across the various groups considered. The results also show the need to provide non-health hospital workers with a psychological support service or ensure the presence of a mental health professional to help them avoid the risk of burnout. CONCLUSIONS: The heavy emotional burden endured by these operators makes them vulnerable and exposes them to burnout.
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BACKGROUND: During the last decade, there has been a growing number of cases of children born from pregnancy-associated cancer (PAC), however there are currently insufficient data on the follow up to be observed in this category of newborns. Objective of the study was to evaluate the neonatal outcomes of infants born to mother with PAC, the potential adverse effect of chemotherapy during pregnancy and the risk of metastasis to the fetus. METHODS: Maternal clinical data and neonatal outcomes of child born to mothers diagnosed with PAC were collected; infants were divided into those were and were not exposed to chemotherapy during fetal life and their outcomes were compered. RESULTS: A total of 37 newborn infants from 36 women with PAC were analyzed. Preterm delivery occurred in 83.8% of the cases. No significant differences in neonatal outcomes were found between infants who were and were not exposed to chemotherapy during pregnancy. The median follow-up period was 12 months. CONCLUSIONS: PAC treatment during the second or third trimester does not seem to be dangerous for the fetus, however infants born from PAC must be carefully evaluated for to rule out the consequences of chemotherapy and exclude the presence of metastasis. Long-term follow-up, especially in children exposed to chemotherapy, should be encouraged to obtain relevant data on long-term toxicity.
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Neoplasias , Nacimiento Prematuro , Embarazo , Lactante , Niño , Recién Nacido , Humanos , Femenino , Estudios de Seguimiento , Nacimiento Prematuro/epidemiología , Atención Prenatal , Neoplasias/tratamiento farmacológico , Estudios ProspectivosRESUMEN
PURPOSE: To assess the prevalence of alterations in anthropometric parameters predictive of metabolic syndrome and cardiovascular risk among childhood brain tumor survivors. METHODS: Anthropometric parameters predictive of metabolic syndrome and cardiovascular risk were analyzed [height, weight, BMI, waist circumference, hip circumference, waist-height ratio (WHtR), waist-hip ratio (WHR, blood pressure] of 25 patients who survived childhood brain tumors. RESULTS: 21 patients (84%) showed alteration of at least one predictive anthropometric parameter. 11 patients (44%) showed a BMI > 75th percentile and 19 patients (76%) showed a pathological WHR value. A pathological WHtR (> 0.5), was identified in 17 patients (68%); the average WHtR observed was 0.53. 9 patients (36%) showed an alteration of all three anthropometric parameters considered. Comparing this subpopulation with the subpopulation with less than three altered parameters, a greater prevalence of the combined alteration was observed in the female sex compared to the male sex (67% vs. 26%). No significant differences were observed regarding the age of diagnosis and end of treatment nor the treatments carried out (chemotherapy, radiotherapy, steroid therapy) between the two groups. CONCLUSION: These results suggest that this population is at high risk of presenting pathological values of BMI, WHR and WHtR with consequent high risk of developing metabolic syndrome and cardiovascular diseases.
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In recent decades, the improvement of treatments and the adoption of therapeutic protocols of international cooperation has led to an improvement in the survival of children affected by brain tumors. However, in parallel with the increase in survival, long-term side effects related to treatments have been observed over time, including the activation of chronic inflammatory processes and metabolic alterations, which can facilitate the onset of metabolic syndrome and increased cardiovascular risk. The aim of this study was to find possible statistically significant differences in the serum concentrations of early biomarkers of metabolic syndrome and in the results of cardiopulmonary exercise testing between survivors of childhood brain tumors and healthy controls. This is a prospective and observational study conducted on a group of 14 male patients who survived childhood brain tumors compared with the same number of healthy controls. The concentrations of early metabolic syndrome biomarkers [adiponectin, leptin, TNF-α, IL-1, IL-6, IL-10, endothelin-1, apolipoprotein B, and lipoprotein (a)] were measured and a cardiopulmonary exercise test (CPET) was performed. Results: Childhood brain tumor survivors performed worse on average than controls on the CPET. Furthermore, they showed higher endothelin-1 values than controls (p = 0.025). The CPET results showed an inverse correlation with leptin. The differences found highlight the greater cardiovascular risk of brain tumor survivors, and radiotherapy could be implicated in the genesis of this greater cardiovascular risk.
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We report the case of a 73-year-old male admitted for epigastric pain and syncope with increased troponin level and a rare electrocardiogram (a singlelead ST-elevation). Coronary angiography showed multi-vessel coronary artery disease. The patient underwent coronary angioplasty with drug-eluting stenting on left anterior descending coronary artery and drug eluting ballooning on first diagonal ostium. Coronary revascularization was completed with a staged stenting on left circumflex artery and right coronary artery. In rare cases of acute coronary syndrome, even isolated ST single lead anomalies may underlie multivessel coronary disease.
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Síndrome Coronario Agudo , Enfermedad de la Arteria Coronaria , Masculino , Humanos , Anciano , Enfermedad de la Arteria Coronaria/complicaciones , Enfermedad de la Arteria Coronaria/diagnóstico , Enfermedad de la Arteria Coronaria/cirugía , Síndrome Coronario Agudo/diagnóstico , Electrocardiografía , Angiografía Coronaria , Revascularización MiocárdicaRESUMEN
BACKGROUND: Severe traumatic brain injury (TBI) is one of the most dramatic events in pediatric age and, despite advanced neuro-intensive care, the survival rate of these patients remains low. Children suffering from severe TBI show long-term sequelae, more pronounced in behavioral, neurological and neuropsychological functions leading to, in the most severe cases, an unresponsive wakefulness syndrome (UWS). Currently, no effective treatments can restore neuronal loss or produce significant improvement in these patients. In experimental animal models, human- recombinant Nerve Growth Factor (hr-NGF) promotes neural recovery supporting neuronal growth, differentiation and survival of brain cells and up-regulating the neurogenesis-associated processes. Only a few studies reported the efficacy of intranasal hr-NGF administration in children with post- traumatic UWS. METHODS: Children with the diagnosis of post-traumatic UWS were enrolled. These patients underwent a treatment with intranasal hr-NGF administration, at a total dose of 50 gamma/kg, three times a day for 7 consecutive days. The treatment schedule was performed for 4 cycles, at one month distance each. Neuroradiogical evaluation by Positron Emission Tomography scan (PET), Single Photon Emission Computed Tomography (SPECT), Electroencephalography (EEG), and Power Spectral Density (PSD) was determined before the treatment and one month after the end. Neurological assessment was also deepened by using modified Ashworth Scale, Gross Motor Function Measure, and Disability Rating Scale. RESULTS: Three children with post-traumatic UWS were treated. hr-NGF administration improved functional (PET and SPECT) and electrophysiological (EEG and PSD) assessment. Also clinical conditions improved, mainly for the reduction of spasticity and with the acquisition of voluntary movements, facial mimicry, attention and verbal comprehension, ability to cry, cough reflex, oral motility, and feeding capacity, with a significant improvement of their neurological scores. No side effects were reported. CONCLUSION: These promising results and the ease of administration of this treatment make it worthwhile to be investigated further, mainly in the early stages from severe TBI and in patients with better baseline neurological conditions, to explore more thoroughly the benefits of this new approach on neuronal function recovery after traumatic brain damage.
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Factor de Crecimiento Nervioso , Vigilia , Animales , Humanos , Niño , Factor de Crecimiento Nervioso/uso terapéutico , Factor de Crecimiento Nervioso/metabolismo , Vigilia/fisiología , Encéfalo , Electroencefalografía , Administración IntranasalRESUMEN
Aminoglycosides are broad-spectrum antibiotics largely used in children, but they have potential toxic side effects, including ototoxicity. Ototoxicity from aminoglycosides is permanent and is a consequence of its action on the inner ear cells via multiple mechanisms. Both uncontrollable risk factors and controllable risk factors are involved in the pathogenesis of aminoglycoside-related ototoxicity and, because of the irreversibility of ototoxicity, an important undertaking for preventing ototoxicity includes antibiotic stewardship to limit the use of aminoglycosides. Aminoglycosides are fundamental in the treatment of numerous infectious conditions at neonatal and pediatric age. In childhood, normal auditory function ensures adequate neurocognitive and social development. Hearing damage from aminoglycosides can therefore strongly affect the normal growth of the child. This review describes the molecular mechanisms of aminoglycoside-related ototoxicity and analyzes the risk factors and the potential otoprotective strategies in pediatric patients.
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The growing phenomenon of antibiotic resistance and the presence of limited data concerning the pediatric area prompted us to focus on Staphylococcus aureus infection in this study, its antibiotic resistance profile, and the therapeutic management of affected children. We conducted a retrospective study by collecting clinical data on infants and children with antibiogram-associated S. aureus infection. We enrolled 1210 patients with a mean age of 0.9 years. We analyzed the resistance patterns and found 61.5% resistance to oxacillin, 58.4% resistance to cephalosporins, 41.6% resistance to aminoglycosides, and 38.3% resistance to fluoroquinolones. Importantly, we found no resistance to glycopeptides, a key antibiotic for MRSA infections whose resistance is increasing worldwide. We also found that the main risk factors associated with antibiotic resistance are being aged between 0 and 28 days, the presence of devices, and comorbidities. Antibiotic resistance is a growing concern; knowing the resistance profiles makes it possible to better target the therapy; however, it is important to use antibiotics according to the principles of antibiotic stewardship to limit their spread.
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Pediatric optic pathway gliomas (OPG) are low-grade brain tumors characterized by slow progression and invalidating visual loss. Common therapeutic strategies include surgery, radiotherapy, chemotherapy, and combinations of these modalities, but despite the different treatment strategies, no actual treatment exists to prevent or revert visual impairment. Nowadays, several reports of the literature show promising results regarding NGF eye drop instillation and improvement of visual outcome. Such results seem to be related with the NGF-linked prevention in caspase activation, which reduces retinal ganglion cell loss.Reducing retinal ganglion cell loss results clinically in visual field improvement as well as visual electric potential and optical coherence tomography gain. Nonetheless, visual acuity fails to show significant changes.Visual impairment represents nowadays one of the major issues in dealing with OPGs. Secondary to the interesting results offered by NGF eye drop administration, further studies are warranted to better comprehend potential treatment strategies.
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Neurofibromatosis 1 , Glioma del Nervio Óptico , Baja Visión , Niño , Humanos , Glioma del Nervio Óptico/terapia , Visión Ocular , Agudeza Visual , Campos Visuales , Trastornos de la Visión/etiología , Baja Visión/complicaciones , Neurofibromatosis 1/complicacionesRESUMEN
OBJECTIVE: To investigate the feasibility of diffusion-weighted magnetic resonance imaging (DW-MRI) as a predictive imaging marker after neoadjuvant chemotherapy in patients with rhabdomyosarcoma. MATERIAL AND METHODS: We performed a multicenter retrospective study including pediatric, adolescent and young adult patients with rhabdomyosarcoma, Intergroup Rhabdomyosarcoma Study group III/IV, treated according to the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 or MTS2008 studies. DW-MRI was performed according to institutional protocols. We performed two-dimensional single-slice tumor delineation. Areas of necrosis or hemorrhage were delineated to be excluded in the primary analysis. Mean, median and 5th and 95th apparent diffusion coefficient (ADC) were extracted. RESULTS: Of 134 included patients, 82 had measurable tumor at diagnosis and response and DW-MRI scans of adequate quality and were included in the analysis. Technical heterogeneity in scan acquisition protocols and scanners was observed. Mean ADC at diagnosis was 1.1 (95% confidence interval [CI]: 1.1-1.2) (all ADC expressed in * 10-3 mm2/s), versus 1.6 (1.5-1.6) at response assessment. The 5th percentile ADC was 0.8 (0.7-0.9) at diagnosis and 1.1 (1.0-1.2) at response. Absolute change in mean ADC after neoadjuvant chemotherapy was 0.4 (0.3-0.5). Exploratory analyses for association between ADC and clinical parameters showed a significant difference in mean ADC at diagnosis for alveolar versus embryonal histology. Landmark analysis at nine weeks after the date of diagnosis showed no significant association (hazard ratio 1.3 [0.6-3.2]) between the mean ADC change and event-free survival. CONCLUSION: A significant change in the 5th percentile and the mean ADC after chemotherapy was observed. Strong heterogeneity was identified in DW-MRI acquisition protocols between centers and in individual patients.
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Rabdomiosarcoma , Sarcoma , Adolescente , Adulto Joven , Humanos , Niño , Imagen de Difusión por Resonancia Magnética/métodos , Estudios Retrospectivos , Rabdomiosarcoma/diagnóstico por imagenRESUMEN
Prognosis of high-risk neuroblastoma is dismal, despite intensive induction chemotherapy, surgery, high-dose chemotherapy, radiotherapy, and maintenance. Patients who do not achieve a complete metastatic response, with clearance of bone marrow and skeletal NB infiltration, after induction have a significantly lowersurvival rate. Thus, it's necessary to further intensifytreatment during this phase. 131-I-metaiodobenzylguanidine (131-I-MIBG) is a radioactive compound highly effective against neuroblastoma, with32% response rate in relapsed/resistant cases, and only hematological toxicity. 131-I-MIBG wasutilized at different doses in single or multiple administrations, before autologous transplant or combinedwith high-dose chemotherapy. Subsequently, it was added to consolidationin patients with advanced NB after induction, but an independent contribution against neuroblastoma and for myelotoxicity is difficult to determine. Despiteresults of a 2008 paper demonstratedefficacy and mild hematological toxicity of 131-I-MIBG at diagnosis, no center had included it with intensive chemotherapy in first-line treatment protocols. In our institution, at diagnosis, 131-I-MIBG was included in a 5-chemotherapy drug combination and administered on day-10, at doses up to 18.3 mCi/kg. Almost 87% of objective responses were observed 50 days from start with acceptable hematological toxicity. In this paper, we review the literature data regarding 131-I-MIBG treatment for neuroblastoma, and report on doses and combinations used, tumor responses and toxicity. 131-I-MIBG is very effective against neuroblastoma, in particular if given to patients at diagnosis and in combination with chemotherapy, and it should be included in all induction regimens to improve early responses rates and consequently long-term survival.
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Background: The present multicenter retrospective study on eltrombopag administration in Italian children with chronic ITP aims to extend follow-up of our previous study. Materials and methods: This retrospective multicenter study was conducted in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). Patients were classified into three subgroups: group 1 included patients who discontinued treatment due to a stable platelet count; group 2 included patients who discontinued treatment due to ineffectiveness; group 3 included patients who did not permanently discontinue treatment. Results: 56 patients were eligible for analysis. The median duration of eltrombopag treatment was 40 months (7-71 months). Twenty patients (36%) discontinued permanently eltrombopag. The reasons of permanent discontinuation were adverse effects (n = 1), inefficacy (n = 10), stable platelet count (n = 9). All patients of group 1 maintained a durable response without additional treatments after eltrombopag discontinuation. We found that patients of group 2 were on treatment for less time (median treatment time: 13.5 months, min: 6.0 - max: 56.0) than patients of group 1 (median treatment time: 34 months, min: 16.0 - max: 62.0) (p < 0.05). Patients of group 2 mostly did not achieve a stable platelet count in the first 6 months of treatment and underwent concomitant therapies during follow-up respect of group 1 and group 3 (p < 0.01). Conclusion: Our study found that the benefits of eltrombopag treatment, in terms of platelet count improvement and use of additional therapies, are identifiable from the first 6 months of treatment.
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BACKGROUND: Health-related quality of life (HRQOL) measurement has become an important health care outcome even in oncological pediatric scenario. During radiation therapy care path, pediatric patients and their relatives may suffer from emotional and psychosocial distress not only related to cancer diagnosis, but also due to the procedure and the required daily routine. Despite the high prevalence of psychosocial consequences in this setting, instruments that inquire pediatric HRQOL and healthcare satisfaction have rarely been studied in Italy. Purpose of this study was to investigate reliability and linguistic validation of the PedsQL™ healthcare satisfaction Hematology/Oncology module from its original English version to Italian language. METHODS: Three phases standard procedure of cross-culture adaptation were used to create Italian version of PedsQL™ healthcare satisfaction Hematology/Oncology module. Forward translations and backward translations were performed. Finally, a pilot-testing for understandability of the 'pre-final' version was conducted with parents of children attending our Radiotherapy Center using two methodologies of Cognitive Interviewing ("Think-aloud Interviews" and "Respondent Debriefing"), in order to obtain the final Italian version of the PedsQL™ healthcare satisfaction Hematology/Oncology module. RESULTS: Twenty-five parents (2 father, 23 mothers) were recruited during their children's radiotherapy treatment and the grammatically and conceptually acceptable pre-final version of the PedsQL™ Healthcare Satisfaction Hematology/Oncology Module was administered. The questionnaire was well understood reflecting its linguistic adaptation. Compliance with questionnaire administration was optimal. All subjects stated that the questions were interesting to express their opinion, most of them reported that all the questions of each section were clearly comprehensible and easy to understand, suggesting minimal changes that were double-checked with back translation. Furthermore, six of them spontaneously asked to complete the questionnaire in order to review the assistance received during radiotherapy. CONCLUSION: Our Italian version of the PedsQL™ 3.0 Healthcare Satisfaction Hematology/Oncology Module seems to be a valid and functional instrument to indagate Healthcare Satisfaction.
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Oncología por Radiación , Humanos , Niño , Calidad de Vida , Reproducibilidad de los Resultados , Lenguaje , Italia , Satisfacción PersonalRESUMEN
BACKGROUND: Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD. MATERIALS AND METHODS: DBS samples were collected and tested for ß-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing ß-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing. RESULTS: 14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06-14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD. CONCLUSIONS: GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.
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Anemia , Enfermedad de Gaucher , Trombocitopenia , Adulto , Humanos , Niño , Enfermedad de Gaucher/diagnóstico , Enfermedad de Gaucher/complicaciones , Esplenomegalia/diagnóstico , Esplenomegalia/complicaciones , Glucosilceramidasa/genética , Trombocitopenia/diagnóstico , Trombocitopenia/complicaciones , Trombocitopenia/tratamiento farmacológico , Diagnóstico Precoz , Anemia/complicaciones , Anemia/tratamiento farmacológicoRESUMEN
Background: Neurofibromatosis type 1 (NF1)-related gliomas appear to have a clinical behavior different from that of sporadic cases. The purpose of the study was to investigate the role of different factors in influencing the tumor response rate of children receiving chemotherapy for their symptomatic glioma. Methods: Between 1995 and 2015, 60 patients with low-grade glioma (42 sporadic cases and 18 cases with NF1) were treated. Patients with brainstem gliomas were excluded. Thirty-nine patients underwent exclusive or postsurgical chemotherapy (vincristine/carboplatin-based regimen). Results: Disease reduction was achieved in 12 of the 28 patients (42.8%) with sporadic low-grade glioma and in 9 of the 11 patients (81.8%) with NF1, with a significant difference between the 2 groups (P < 0.05). The response to chemotherapy in both the patient groups was not significantly influenced by sex, age, tumor site, and histopathology, although disease reduction occurred more frequently in children aged under 3 years. Conclusions: Our study showed that pediatric patients with low-grade glioma and NF1 are more likely to respond to chemotherapy than those with non-NF1.