Role of the Genetic Study in the Management of Carotid Body Tumor in Paraganglioma Syndrome

AbstractDiagnosis of carotid body tumor (CBT) was made in a 36 years old woman. The pre-operative examination included genetic analysis of the succinate dehydrogenase that showed a mutation in his subunit D responsible of multiple paraganglioma at slow growth. Subsequently a thoraco-abdominal CT and indium111 octreotide body scan were performed and another paraganglioma was detected in the anterior mediastinum. CBT was surgically removed; differently the thoracic lesion due to his benign genetic profile was not treated. During a 3-years follow-up the thoracic paraganglioma as expected, didn't increase. Genetic analysis of succinate dehydrogenase, should be performed in the management of CBT

The impact of natural compounds on s-shaped aβ42 fibril: From molecular docking to biophysical characterization

The pursuit for effective strategies inhibiting the amyloidogenic process in neurodegenerative disorders, such as Alzheimer’s disease (AD), remains one of the main unsolved issues, and only a few drugs have demonstrated to delay the degeneration of the cognitive system. Moreover, most therapies induce severe side effects and are not effective at all stages of the illness. The need to find novel and reliable drugs appears therefore of primary importance. In this context, natural compounds have shown interesting beneficial effects on the onset and progression of neurodegenerative diseases, exhibiting a great inhibitory activity on the formation of amyloid aggregates and proving to be effective in many preclinical and clinical studies. However, their inhibitory mechanism is still unclear. In this work, ensemble docking and molecular dynamics simulations on S-shaped Aβ42 fibrils have been carried out to evaluate the influence of several natural compounds on amyloid conformational behaviour. A deep understanding of the interaction mechanisms between natural compounds and Aβ aggregates may play a key role to pave the way for design, discovery and optimization strategies toward an efficient destabilization of toxic amyloid assemblies

Structure based modeling of small molecules binding to the TLR7 by atomistic level simulations

Toll-Like Receptors (TLR) are a large family of proteins involved in the immune system response. Both the activation and the inhibition of these receptors can have positive effects on several diseases, including viral pathologies and cancer, therefore prompting the development of new compounds. In order to provide new indications for the design of Toll-Like Receptor 7 (TLR7)-targeting drugs, the mechanism of interaction between the TLR7 and two important classes of agonists (imidazoquinoline and adenine derivatives) was investigated through docking and Molecular Dynamics simulations. To perform the computational analysis, a new model for the dimeric form of the receptors was necessary and therefore created. Qualitative and quantitative differences between agonists and inactive compounds were determined. The in silico results were compared with previous experimental observations and employed to define the ligand binding mechanism of TLR7

Neuraghe: Exploiting CPU-FPGA synergies for efficient and flexible CNN inference acceleration on zynQ SoCs

Deep convolutional neural networks (CNNs) obtain outstanding results in tasks that require human-level understanding of data, like image or speech recognition. However, their computational load is significant, motivating the development of CNN-specialized accelerators. This work presents NEURAghe, a flexible and efficient hardware/software solution for the acceleration of CNNs on Zynq SoCs. NEURAghe leverages the synergistic usage of Zynq ARM cores and of a powerful and flexible Convolution-Specific Processor deployed on the reconfigurable logic. The Convolution-Specific Processor embeds both a convolution engine and a programmable soft core, releasing the ARM processors from most of the supervision duties and allowing the accelerator to be controlled by software at an ultra-fine granularity. This methodology opens the way for cooperative heterogeneous computing: While the accelerator takes care of the bulk of the CNN workload, the ARM cores can seamlessly execute hard-to-accelerate parts of the computational graph, taking advantage of the NEON vector engines to further speed up computation. Through the companion NeuDNN SW stack, NEURAghe supports end-to-end CNN-based classification with a peak performance of 169GOps/s and an energy efficiency of 17GOps/W. Thanks to our heterogeneous computing model, our platform improves upon the state-of-the-art, achieving a frame rate of 5.5 frames per second (fps) on the end-to-end execution of VGG-16 and 6.6fps on ResNet-18

A possible cause of misdiagnosis in tumors of the axilla: schwannoma of the brachial plexus

The Authors report a rare case of a 57 years old man affected by a left radial nerve schwannoma that occurred as an asymptomatic lesion of the axilla. At clinical examination the lump was undistinguishable from the most common axillary lymphadenopathy. A lymphoadenopathy was erroneously diagnosed with ultrasonography (US). This mistake was due to the low specificity of the instrumental methodology and to the rarity of an asymptomatic schwannoma of the infraclavicular brachial plexus. The neoplasia was excised without using the microscope. In the early post-operative follow up, a “falling” attitude of the wirst, the hand and the fingers appeared, peculiar for a lesion of the radial nerve. Furthermore a hypoaesthesia of the skin of first finger and of the first interosseus space was associated. The sensitive and motor electromyography showed a radial nerve suffering. The “stupor” of the nerve trunk was treated with steroid therapy for 7 days and the patient underwent to some series of neuro-rehabilitative physical therapy for 12 weeks. The postoperative total body CT, showed that the lesion was unique: therefore it was possible to exclude the diagnosis of neurofibromatosis. After 28 months electromyography and axillary US were performed showing the complete resolution of the motor and sensitive deficit and the absence of local recurrence

How do we comprehend linguistic and visual narratives? A study in children with typical development

The present study investigated the comprehension of narrative with reference to global coherence, i.e., the global representation of story meaning and connectedness, across two different expressive modalities: stories conveyed through written language and stories conveyed through sequences of images. Two cognitive abilities possibly underpinning such comprehension were assessed: Central Coherence (CC) and Theory of Mind (ToM). Two groups of children with typical development aged between 8.00 and 10.11 years were included in the study: 40 participants received the narrative comprehension task in the linguistic modality; 40 participants were administered the narrative comprehension task in the visual condition. Analyses revealed that a change in the expressive code used to convey narratives did not entail a change in the overall comprehension performance: children of the two groups performed similarly on the narrative task. As for the cognitive abilities, CC and ToM scores were positively correlated with narrative comprehension score only in the visual narrative comprehension task, and not in the linguistic one. Moreover, a regression analysis showed that, along with age, CC significantly predicted the visual narrative comprehension score. The implications of these results are discussed.(c) 2022 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Chronic Intermittent Ethanol Regulates Hippocampal GABA(A) Receptor Delta Subunit Gene Expression.

Chronic ethanol consumption causes structural and functional reorganization in the hippocampus and induces alterations in the gene expression of gamma-aminobutyric acid type A receptors (GABAARs). Distinct forced intermittent exposure models have been used previously to investigate changes in GABAAR expression, with contrasting results. Here, we used repeated cycles of a Chronic Intermittent Ethanol paradigm to examine the relationship between voluntary, dependence-associated ethanol consumption, and GABAAR gene expression in mouse hippocampus. Adult male C57BL/6J mice were exposed to four 16-h ethanol vapor (or air) cycles in inhalation chambers alternated with limited-access two-bottle choice between ethanol (15%) and water consumption. The mice exposed to ethanol vapor showed significant increases in ethanol consumption compared to their air-matched controls. GABAAR alpha4 and delta subunit gene expression were measured by qRT-PCR at different stages. There were significant changes in GABAAR delta subunit transcript levels at different time points in ethanol-vapor exposed mice, while the alpha4 subunit levels remained unchanged. Correlated concurrent blood ethanol concentrations suggested that GABAAR delta subunit mRNA levels fluctuate depending on ethanol intoxication, dependence, and withdrawal state. Using a vapor-based Chronic Intermittent Ethanol procedure with combined two-bottle choice consumption, we corroborated previous evidences showing that discontinuous ethanol exposure affects GABAAR delta subunit expression but we did not observe changes in alpha4 subunit. These findings indicate that hippocampal GABAAR delta subunit expression changes transiently over the course of a Chronic Intermittent Ethanol paradigm associated with voluntary intake, in response to ethanol-mediated disturbance of GABAergic neurotransmission

Proteomic study of antibiotic resistance in Escherichia coli strains

Enteropathogen Escherichia coli infection is the most common type of colibacillosis of young animals (primarily pigs and calves), and it is cause of diarrhoea among travellers and children in the developing world. The main virulence attributes of pathogens Escherichia coli are adhesins and enterotoxins, which are mostly regulated on large plasmids. In the current study, comparative proteomics was applied to identify changes in proteins responsible for antibiotic resistance in different in vivo isolates Escherichia coli. In particular it has been studied strains with same virulence factors, but a completely different antibiotic profile, obtained from different organs of the same anima

European primary datasets of alien bacteria and viruses

Bacteria and viruses are a natural component of Earth biodiversity and play an essential role in biochemical and geological cycles. They may also pose problems outside their native range, where they can negatively impact on natural resources, wildlife, and human health. To address these challenges and develop sustainable conservation strategies, a thorough understanding of their invasion related- factors is needed: origin, country and year of introduction, and pathways dynamics. Yet, alien bacteria and viruses are underrepresented in invasion ecology studies, which limits our ability to quantify their impacts and address future introductions. This study provides primary datasets of alien bacteria and viruses of plants and animals present in the European environment. The datasets contain expert-revised data on 446 taxa and their invasion related- factors across terrestrial and aquatic environments. Taxa information are complemented with spatial occurrences. The datasets provide a basis for collaborative initiatives to improve the collection of alien bacteria and viruses' data, and a starting point for data-driven conservation practices