Ewing’s Sarcoma of the Breast in a Young Woman: A Case Report and Review of the Literature

Ewing’s Sarcoma Family Tumors (ESFT) include classic Ewing’s sarcoma of bone, extra-skeletal Ewing’s sarcoma (EES), malignant small cell tumor of the chest wall (Askin tumor), and soft tissue-based Peripheral Primitive Neuroectodermal tumors (pPNET). The t(11;22)(q24;q12) translocation is associated with 85% of tumors and leads to EWS-FLI-1 (Ewing’s Sarcoma–Friend Leukemia Integration-1) formation. This is a potent transforming gene that encodes a chimeric protein that plays a role in the genesis of Ewing’s Sarcoma and Primitive Neuroectodermal Tumors. The breast location of ESFT remains exceptional. The prognosis is among the poorest of all subtypes of breast cancer and even poorer than other extraosseous Ewing’s sarcomas. We describe the case report of a 23-year-old patient with a growing breast lump, who required an accurate and challenging diagnostic estimation and who ultimately resulted in a peripheral primary neuroectodermal tumor (pPNET). Through this case description and a brief narrative review of the literature, we aim to highlight the rarity of ESFT located in the breast. Histopathological confirmation is mandatory for all growing masses of the breast to reach a conclusive diagnosis and plan the correct treatment. Patients with rare diagnoses should always be centralized in breast units, conducting multidisciplinary meetings and, when necessary, the diagnosis should be shared through wider national or international registries

Self-management in stroke survivors: Development and implementation of the look after yourself (lay) intervention

Objective: Self-management is recommended in stroke rehabilitation. This report aims to describe timing, contents, and setting of delivery of a patient-centered, self-management program for stroke survivors in their early hospital rehabilitation phase: the Look After Yourself (LAY) in-tervention. Methods: After extensive literature search, the LAY intervention was developed by in-tegrating the Chronic Disease Self-Management Program, based on the self-efficacy construct of social cognitive theory, with evidence-based key elements and input from stroke survivors. Results: the LAY intervention aims to implement self-management skills in stroke survivors, enabling them to be active in goal setting and problem solving using action plans and to facilitate the critical transition from hospital to community. It includes both group sessions to facilitate sharing of experi-ences, social comparison, vicarious learning, and increase motivation and one-to-one sessions fo-cused on setting feasible action plans and on teaching personalized strategies to prevent falls. Stand-ardization is ensured by manuals for facilitators and patients. Conclusion: The LAY intervention is the first Italian program to support early self-management in stroke rehabilitation; it has been ex-perimented and its efficacy proven in improving self-efficacy, mental health, and activities of daily living, and detailed results have been published. The LAY intervention is described according to the TIDieR checklist

Ultrastructural study of cultured ovine bone marrow-derived mesenchymal stromal cells.

Ovine bone marrow-derived mesenchymal stromal cells (oBM-MSCs) represent a good animal model for cell-based therapy and tissue engineering. Despite their use as a new therapeutic tool for several clinical applications, the morphological features of oBM-MSCs are yet unknown. Therefore, in this study the ultrastructural phenotype of these cells was analysed by transmission electron microscopy (TEM). The oBM-MSCs were isolated from the iliac crest and cultured until they reached near-confluence. After trypsinization, they were processed to investigate their ultrastructural features as well as specific surface marker proteins by flow cytometry and immunogold electron microscopy. Flow cytometry displayed that all oBM-MSCs lacked expression of CD31, CD34, CD45, HLA-DR whereas they expressed CD44, CD58, HLAI and a minor subset of the cell population (12%) exhibited CD90. TEM revealed the presence of two morphologically distinct cell types: cuboidal electron-lucent cells and spindle-shaped electron-dense cells, both expressing the CD90 antigen. Most of the electron-lucent cells showed glycogen aggregates, dilated cisternae of RER, moderately developed Golgi complex, and secretory activity. The electron-dense cell type was constituted by two different cell-populations: type A cells with numerous endosomes, dense bodies, rod-shaped mitochondria and filopodia; type B cells with elongated mitochondria, thin pseudopodia and cytoplasmic connectivity with electron-lucent cells. These morphological findings could provide a useful support to identify “in situ” the cellular components involved in the cell-therapy when cultured oBM-MSCs are injected

Ipotesi sulla presenza di Glaucium flavum nel barocco leccese

Riassunto - Il barocco leccese si caratterizza per la ricca presenza di decorazioni vegetali, foglie, fusti e frutti. La tipica decorazione del capitello corinzio ha come elemento distintivo le foglie d’acanto. Per analogia con le decorazioni corinzie, molte altre foglie vengono definite “foglia d’acanto” pur non corrispondendo a tale pianta da un punto di vista anatomico. Sfruttando alcune caratteristiche botaniche, abbiamo identificato in molte decorazioni i tratti che riteniamo caratteristici della pianta tipica delle coste pugliesi Glaucium flavum Crantz comunemente noto come ‘papavero cornuto’. Se l’identificazione sarà confermata da valutazioni indipendenti, questa pianta potrebbe rappresentare un motivo decorativo estremamente ricorrente poiché parzialmente riprodotta in quasi ogni decorazione barocca del ‘700. L’importanza del riscontro di una pianta selvatica tipica degli ambienti salentini viene qui discussa

Telemedicine for Delivery of Care in Frontotemporal Lobar Degeneration during COVID-19 Pandemic: Results from Southern Italy

Background: The COVID-19 pandemic is changing clinical practice in neurology, after the governments decided the introduction of social distancing and interruption of medical non-emergency services in many countries. Teleneurology is an effective tool for the remote evaluation of patients but its adoption for frontotemporal lobar dementia (FTD) is in a preliminary stage. Objective: We evaluated multidisciplinary assessment of patients with FTD using telehealth during the COVID-19 pandemic. Methods: All patients received a diagnosis of FTD during 2018-2019 according to international criteria. A structured questionnaire and Clinical Dementia Rating Scale (CDR)-FTD were used by the neurologist with patients and/or caregivers. Index symptoms of COVID-19 infection were searched. Results: Twenty-eight clinical interviews were completed with caregivers and four with both patients/caregivers. Most patients and caregivers were satisfied with the neurological interview and expressed their willingness to continue to be included in remote evaluation programs (90%). Fifty percent of patients experienced significant worsening of clinical picture and quality of life since the start of social distancing. The CDR-FTD scale revealed a significant worsening of behavior (p = 0.01) and language functions (p = 0.009), compared to the last in-person evaluation at the center. One patient presented index symptoms of COVID-19 infection and was confirmed to be positive for COVID-19 with pharyngeal swab. Conclusion: The study was conducted in Italy, one of the countries hit particularly hard by the COVID-19 pandemic, with interruption of all non-emergency medical services. Our study indicates that telemedicine is a valid tool to triage patients with FTD to increase practice outreach and efficiency

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report

Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy. The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of acute neurological deterioration after stress conditions. We report a 52-year-old man with VWMD and atypical features who manifested two major events of transient aphasia eleven years apart with complete recovery in 48 hours. No cognitive decline was present. Brain MRI revealed typical aspects of VWMD including diffuse leukoencephalopathy with relative sparing of U-fibers. We identified the presence of c.592G>A (p.Glu198Lys) and c.1360 C>T (p.Pro454Ser) mutations in EIF2B5

Usefulness of the maggic score in predicting the competing risk of non-sudden death in heart failure patients receiving an implantable cardioverter-defibrillator: A sub-analysis of the observo-icd registry

The role of prognostic risk scores in predicting the competing risk of non-sudden death in heart failure patients with reduced ejection fraction (HFrEF) receiving an implantable cardioverterdefibrillator (ICD) is unclear. To this goal, we evaluated the accuracy and usefulness of the MetaAnalysis Global Group in Chronic Heart Failure (MAGGIC) score. The present analysis included 1089 HFrEF ICD recipients enrolled in the OBSERVO-ICD registry (NCT02735811). During a median follow-up of 36 months (1st\u20133rd IQR 25\u201348 months), 193 patients (17.7%) experienced at least one appropriate ICD therapy, and 133 patients died (12.2%) without experiencing any ICD therapy. The frequency of patients receiving ICD therapies was stable around 17\u201319% across increasing tertiles of 3-year MAGGIC probability of death, whereas non-sudden mortality increased (6.4% to 9.8% to 20.8%, p < 0.0001). Accuracy of MAGGIC score was 0.60 (95% CI, 0.56\u20130.64) for the overall outcome, 0.53 (95% CI, 0.49\u20130.57) for ICD therapies and 0.65 (95% CI, 0.60\u20130.70) for non-sudden death. In patients with higher 3-year MAGGIC probability of death, the increase in the competing risk of non-sudden death during follow-up was greater than that of receiving an appropriate ICD therapy. Results were unaffected when analysis was limited to ICD shocks only. The MAGGIC risk score proved accurate and useful in predicting the competing risk of non-sudden death in HFrEF ICD recipients. Estimation of mortality risk should be taken into greater consideration at the time of ICD implantation

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases. VARS encodes the only known valine cytoplasmic-localized aminoacyl-tRNA synthetase. Here, we report seven patients from five unrelated families with five different biallelic missense variants in VARS. Subjects present with a range of global developmental delay, epileptic encephalopathy and primary or progressive microcephaly. Longitudinal assessment demonstrates progressive cortical atrophy and white matter volume loss. Variants map to the VARS tRNA binding domain and adjacent to the anticodon domain, and disrupt highly conserved residues. Patient primary cells show intact VARS protein but reduced enzymatic activity, suggesting partial loss of function. The implication of VARS in pediatric neurodegeneration broadens the spectrum of human diseases due to mutations in tRNA synthetase genes

Prominent and regressive brain developmental disorders associated with nance-horan syndrome

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periven-tricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neu-rodevelopmental features associated with NHS