Lumbar malignant peripheral nerve sheath tumor: a rare case in a young patient

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma that originate from peripheral nerves or from cells associated with the nerve sheath. We report the case of a 30‑year‑old male patient with a history of neurofibromatosis type I (NF-1) and a MPNST located in the lumbar region. The mass was resecated but surgical margins weren't clear. Recurrence of disease was observed after few months. A close monitoring of subjects with NF-1 is crucial to diagnose MPNST at an earlier stage and allow a complete surgical resection

Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models

: The coding of medical documents and in particular of rehabilitation notes using the International Classification of Functioning, Disability and Health (ICF) is a difficult task showing low agreement among experts. Such difficulty is mainly caused by the specific terminology that needs to be used for the task. In this paper, we address the task developing a model based on a large language model, BERT. By leveraging continual training of such a model using ICF textual descriptions, we are able to effectively encode rehabilitation notes expressed in Italian, an under-resourced language

Cor triatriatum dexter: a rare incidentaloma

Cor triatriatum dexter (CTD) is an extremely rare finding resulting from the persistence of the right valve of sinus venosus. It is a congenital cardiac anomaly defined by an abnormal septation of the atrium leading to inflow obstruction to the respective ventricle. Multimodal diagnostic modalities are necessary to characterize it for an optimal patient management. We report the case of a 68-year-old woman who presented to our clinic for further feedback of ventricular ectopic beats

The impact of gender-role-orientations on subjective career success: a multilevel study of 36 societies

International audienceWe investigate the relationships between gender-role-orientation (i.e., androgynous, masculine, feminine and undifferentiated) and subjective career success among business professionals from 36 societies. Drawing on the resource management perspective, we predict that androgynous individuals will report the highest subjective career success, followed by masculine, feminine, and undifferentiated individuals. We also postulate that meso-organizational culture and macro-societal values will have moderating effects on gender role's impact on subjective career success. The results of our hierarchical linear models support the hypothesized hierarchy of the relationships between gender-role-orientations and subjective career success. However, we found that ethical achievement values at the societal culture level was the only variable that had a positive moderating impact on the relationship between feminine orientation and subjective career success. Thus, our findings of minimal moderation effect suggest that meso- and macro-level environments may not play a significant role in determining an individual's perception of career success

AI is a viable alternative to high throughput screening: a 318-target study

: High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy is sufficient to identify useful molecules. Through the largest and most diverse virtual HTS campaign reported to date, comprising 318 individual projects, we demonstrate that our AtomNet® convolutional neural network successfully finds novel hits across every major therapeutic area and protein class. We address historical limitations of computational screening by demonstrating success for target proteins without known binders, high-quality X-ray crystal structures, or manual cherry-picking of compounds. We show that the molecules selected by the AtomNet® model are novel drug-like scaffolds rather than minor modifications to known bioactive compounds. Our empirical results suggest that computational methods can substantially replace HTS as the first step of small-molecule drug discovery

Castleman disease: a rare case in a young woman

: Castleman disease is a rare lymphoproliferative disorder characterized by benign enlargement of lymph nodes. It is divided into unicentric disease, which involves a single enlarged lymph node, and multicentric disease, which affects multiple lymph node stations. In this report, we describe a rare case of a 28-year-old female patient with an unicentric Castleman disease. Computed tomography and magnetic resonance imaging revealed a well-circumscribed large mass in the left neck, characterized by intense homogenous enhancement and suspected for a malignant disease. The patient underwent an excisional biopsy for definitive diagnosis of unicentric Castleman disease and ruled out malignant conditions

Magnetic Resonance Imaging in Autism Spectrum Disorders: clinical and neuroradiological phenotypes

Background and aim: Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that can severely compromise social and cognitive functions in childhood. Magnetic Resonance Imaging (MRI) currently represents the gold standard as an in vivo and non-invasive study of the human brain morphology. This work aims to search for possible links between clinical phenotypes and radiological anomalies that may be relevant and pathognomonic in the subsequent diagnosis of ASDs. Methods: This is a retrospective study in which 132 patients (112 males and 20 females) with neurodevelopment disorders, including ASDs, were enrolled. The population study was divided into three groups considering their own pathological diagnosis. All patients included in this population underwent genetic screening and one or multiple 1.5T MRI scans were performed to evaluate potential anomalies of the corpus callosum, periventricular white matter, ventricular space, cerebellum, subarachnoid space and thalamus. Results: Univariate analysis showed that the presence of MRI brain abnormalities was a significant variable in predicting the presence of ASDs.  Increased ventricular volume was one of the most replicated findings in ASDs patients since it was reported to be statistically significant both in uni- and multivariate analysis, resulting even as a potentially predictive factor of diagnosis. Conclusions: This study can represent a starting point for the research of new radiological evidence that might be important to early diagnose ASDs and for making a differential diagnosis with all those conditions that mimic autistic traits, but which are not clinically connected to the spectrum disorder itself

Extragonadal germ cell tumor: A rare case in dorsal region

: Extragonadal germ cell tumors (GCTs) are a rare group of neoplasms that account for 1%-5% of all GCTs. These tumors can present with an unpredictable behavior and clinical manifestations depending on different factors such as histological subtype, anatomical site, and clinical stage. We report the case of a 43-year-old male patient with a primitive extragonadal seminoma located in the paravertebral dorsal region, an extremely rare site. He presented to our emergency department with a 3-month history of back pain and a 1-week history of fever of unknown origin. Imaging techniques revealed a solid tissue arising from the vertebral bodies of D9-D11 and extending in the paravertebral space. After a bone marrow biopsy and exclusion of testicular seminoma, he was diagnosed with primitive extragonadal seminoma. The patient underwent five cycles of chemotherapy, and the follow-up CT examinations showed a reduction of the mass initially till a complete remission with no evidence of recurrence

Activation of the coagulation system during coronary artery bypass grafting: Comparison between on-pump and off-pump techniques

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