114 research outputs found
Correction to:The innervation of extensor hallucis longus muscle: an anatomical study for selective neurotomy
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Primary squamous cell carcinoma of the liver: an unexpected pathological finding
Abstract
Background
Primary squamous cell carcinoma of the liver is a very rare cancer requiring a complete diagnostic investigation, as it presents some differences from other primary hepatic malignancies. We describe the case of an elderly patient with primitive squamous cell carcinoma of the liver treated by percutaneous microwave ablation and transarterial chemoembolization.
Case presentation
Although the pathogenesis remains uncertain, a possible transformation of the biliary epithelium caused by chronic inflammation or metaplasia and subsequent malignant transformation of preexisting benign hepatic cysts has been suggested. A critical review of the existing literature was performed by focusing on the pathogenesis, clinical presentation, and the suggested therapeutic strategies.
Conclusion
A multidisciplinary approach is needed to face rare hepatic malignancies where there are no clear guidelines
H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall
According to the fifth edition of the World Health Organization (WHO) classification of tumors of the central nervous system (CNS), diffuse midline glioma H3 K27-altered is a grade 4 infiltrative glioma that arises from midline anatomical structures and is characterized by the loss of H3 K27me3 and co-occurring H3 K27M mutation or EZHIP overexpression. However, the H3 K27M mutation has also been observed in circumscribed gliomas and glioneuronal tumors arising in midline anatomical structures, which may result in diagnostic pitfalls.Rosette-forming glioneuronal tumor (RGNT) is a CNS WHO grade 1 neoplasm that histologically features neurocytic and glial components and originates in midline anatomical structures.This study aimed to assess whether RGNTs, similar to other midline tumors, may exhibit immunohistochemical loss of H3 K27me3 and harbor the H3 K27M mutation.All seven analyzed RGNTs displayed immunohistochemical loss of H3 K27me3 in all tumor cells or H3 K27me3 mosaic immunostaining. In one case, H3 K27me3 loss was associated with the H3 K27M mutation, whereas the other six cases did not exhibit any H3 mutations or EZHIP overexpression. During a follow-up period of 23 months, the H3 K27M-mutant case remained unchanged in size despite partial resection, indicating that the H3 mutation may not confer higher biological aggressiveness to RGNT.The immunohistochemical loss of H3 K27me3 co-occurring with the H3 K27M mutation may result in the potential misdiagnosis of RGNT, especially in cases of small biopsy specimens consisting of only the glial component
Expression of stathmin in asbestos-like fibers-induced mesothelioma: A preliminary report
Background. Mesothelioma is strongly associated with exposure to asbestos fibers, however, recent studies have also linked exposure to "naturally occurring asbestos" fibers with this disease. Fluoroedenite, a silicate mineral found in the southeast of Biancavilla (Sicily, Italy), has been identified as a potential risk factor for mesothelioma. Unfortunately, this cancer often has a poor prognosis, and current diagnostic and prognostic biomarkers are inadequate. Histological subtype, gender, and age at diagnosis are the most significant parameters for mesothelioma. Stathmin, a cytosolic protein that regulates cell growth and migration and is overexpressed in many human malignancies, has not yet been linked to mesothelioma survival or clinical-pathological variables. Aim. The aim of this study was to investigate the immunohistochemical expression of stathmin in ten mesothelioma tissue samples with available clinical and follow-up data. Material and Methods. Paraffin-embedded tissue samples from ten mesothelioma patients were processed for immunohistochemical analyses to evaluate stathmin expression. Results. Our findings suggest that stathmin overexpression is associated with shorter overall survival in patients with mesothelioma. Furthermore, stathmin expression was significantly correlated with the survival time of mesothelioma patients. Conclusion. Our results suggest that stathmin expression may serve as a potential prognostic biomarker for mesothelioma. This biomarker could be used to promptly identify patients with poor prognosis and to guide clinicians in the selection of treatment options
Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with metaâanalysis and additional reports of 4 cases
Introduction Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal CNS neoplasm, characterized by
inactivation of SMARCB1 (INI1) or rarely of SMARCA4 (BRG1). While it is predominantly a childhood tumor, AT/RT is
rare in adults.
Methods We provide a comprehensive systematic review of literature with meta-analysis; 92 adult cases were found from
74 articles. We additionally present 4 cases of adult AT/RTs (age ranging from 19 to 29 years), located to cerebellum in 2
cases, to ponto-cerebellar angle in 1 case and to spinal cord in the remaining case.
Results Microscopic features of our 4 cases showed a highly cellular tumor with rhabdoid morphology and high mitotic
activity. All tumor cells lacked nuclear SMARCB1/INI1 protein expression. In case no. 3 we also performed methylation
profiling which clustered the tumor with pediatric AT/RT-MYC subgroup. Prognosis remains poor in both pediatric and adult
population with a median overall survival of 11 months. Our review demonstrated median overall survival of 15 months
among the adult populations. However, consistent with a recent review, adult AT/RT seems to have highly variable prognosis
and some patients reach long term survival with 22.9% of 5-year survival without evidence of disease and mean follow up
time of 35.9 months (SD = 36.5). 27.1% of dissemination was also reported among the adult population.
Conclusions Adult AT/RTs predominantly arise in female patients and in supratentorial location. Midline structures, including
the sellar region, are the most affected sites, especially among females aged > 40 years. Male gender is more prevalent
between the age of 18 and 40 years and more frequently associated with non-midline tumors. Factors significantly associated
with better prognosis are patientâs age (< 40 years), combined radio-chemotherapy adjuvant approach and Ki-67 score < 40%
Deepbrain stimulation of the nucleus accumbens in obsessive compulsive disorder: clinical, surgical and electrophysiological considerations in two consecutive patients
Abstract Obsessive compulsive disorder is a highly disabling pathological condition which in the most severe and drug-resistant form can severely impair social, cognitive and interpersonal functioning. Deep-brain stimulation has been demonstrated to be an effective and safe interventional procedure in such refractory forms in selected cases. We here report the first Italian experience in the treatment of this pathology by means of nucleus accumbens stimulation, pointing out to some technical data which could be of help in localization of the target
Application of latent class analysis in assessing the awareness, attitude, practice and satisfaction of paediatricians on sleep disorder management in children in Italy.
AIM:
To identify subgroups regarding paediatricians' awareness, attitude, practice and satisfaction about management of Sleep-Disordered Breathing (SDB) in Italy using Latent Class Analysis (LCA).
METHODS:
A cross-sectional study was conducted on a large sample of Italian paediatricians. Using a self-administered questionnaire, the study collected information on 420 Paediatric Hospital Paediatricians (PHPs) and 594 Family Care Paediatricians (FCPs). LCA was used to discover underlying response patterns, thus allowing identification of respondent groups with similar awareness, attitude, practice and satisfaction. A logistic regression model was used to investigate which independent variables influenced latent class membership. Analyses were performed using R 3.5.2 software. A p-value<0.05 was considered statistically significant.
RESULTS:
Two classes were identified: Class 1 (n = 368, 36.29%) "Untrained and poorly satisfied" and Class 2 (n = 646, 63.71%) "Trained and satisfied." Involving paediatric pneumologists or otorhinolaryngologists in clinical practice was associated with an increased probability of Class 2 membership (OR = 5.88, 95%CI [2.94-13.19]; OR = 15.95, 95% CI [10.92-23.81] respectively). Examining more than 20 children with SDB during the last month decreased the probability of Class 2 membership (OR = 0.29, 95% CI [0.14-0.61]). FCPs showed a higher probability of Class 2 membership than PHPs (OR = 4.64, 95% CI [3.31-6.55]).
CONCLUSIONS:
These findings suggest that the LCA approach can provide important information on how education and training could be tailored for different subgroups of paediatricians. In Italy standardized educational interventions improving paediatricians' screening of SDB are needed in order to guarantee efficient management of children with SDB and reduce the burden of disease
Molecular Investigation on a Triple Negative Breast Cancer Xenograft Model Exposed to Proton Beams
Specific breast cancer (BC) subtypes are associated with bad prognoses due to the absence of successful treatment plans. The triple-negative breast cancer (TNBC) subtype, with estrogen (ER), progesterone (PR) and human epidermal growth factor-2 (HER2) negative receptor status, is a clinical challenge for oncologists, because of its aggressiveness and the absence of effective therapies. In addition, proton therapy (PT) represents an effective treatment against both inaccessible area located or conventional radiotherapy (RT)-resistant cancers, becoming a promising therapeutic choice for TNBC. Our study aimed to analyze the in vivo molecular response to PT and its efficacy in a MDA-MB-231 TNBC xenograft model. TNBC xenograft models were irradiated with 2, 6 and 9 Gy of PT. Gene expression profile (GEP) analyses and immunohistochemical assay (IHC) were performed to highlight specific pathways and key molecules involved in cell response to the radiation. GEP analysis revealed in depth the molecular response to PT, showing a considerable immune response, cell cycle and stem cell process regulation. Only the dose of 9 Gy shifted the balance toward pro-death signaling as a dose escalation which can be easily performed using proton beams, which permit targeting tumors while avoiding damage to the surrounding healthy tissue
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more patients, 1 with focal motor epilepsy once again (resulting in status epilepticus) and the other with behavioural comorbidity and multifocal epilepsy. Results: A significant reduction in seizure frequency was observed, and the 2 patients with behavioural comorbidity also showed a dramatic improvement in their disruptive behaviour. The patient with motor focal seizures showed a 70% reduction in seizure frequency, and in the last patient remission from status epilepticus was obtained. Conclusion: Our data confirm DBS of deep brain structures modulates the functional activity of the cerebral cortex as suggested by Adrian Upton in 1985. In the reported series, deep-brain stimulation of 2 unconventional targets belonging to the reticulo-cortical system (the brainstem-diencephalon functional system including structures that act as remote controls in modulating cortical excitability) was found to be effective in controlling otherwise refractory multifocal (pHyp) and focal sensorimotor (CZi) epilepsy when resective surgery was not feasible
Conceptual Design of a Soft Xâray SASEâFEL Source
FELs based on SASE are believed to be powerful tools to explore the frontiers of basic sciences, from physics to chemistry to biology. Intense R&D programs have started in the USA and Europe in order to understand the SASE physics and to prove the feasibility of these sources. The allocation of considerable resources in the Italian National Research Plan (PNR) brought about the formation of a CNRâENEAâINFNâUniversity of Roma "Tor Vergata" study group. A conceptual design study has been developed and possible schemes for linac sources have been investigated, bringing to the SPARX proposal. We report in this paper the results of a preliminary start to end simulation concerning one option we are considering based on an Sâband normal conducting linac with high brightness photoinjector integrated in a RF compressor
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