Molecular Taxonomy: Use of Transcriptional Profiles to Identify Different ALS Subtypes

Advances in diagnostic techniques and high-throughput biotechnologies provide a compelling opportunity to improve the diagnosis and treatment of diseases by developing a “New Taxonomy” that defines diseases on the basis of their underlying molecular and environmental factors rather than on traditional physical signs and symptoms. Oncology represents the first interesting example of how genomic medicine has changed the understanding of diseases and their therapy. However, much work remains to be completed on the molecular characterization and classification of complex and multifactorial diseases, including neurodegenerative disorders. Our research group has recently shown the genomic heterogeneity of sporadic amyotrophic lateral sclerosis (SALS), identifying two divergent subtypes associated with differentially expressed genes and pathways and providing several potential biomarkers and therapeutic targets. This chapter reviews the results emerged from our work, highlighting how molecular characterization of SALS patients may provide a framework for developing a more precise and accurate classification of diseases that could revolutionize the diagnosis, therapy, and clinical decisions of diseases, leading to more individualized treatments and improved outcomes for patients

Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation.

Twenty-one patients (12 female and 9 male) with severe (homozygous) factor XII (FXII) deficiency and 58 (32 female and 26 male) with heterozygous FXII deficiency were observed for an average 16.2 years. No patient with homozygous FXII deficiency experienced myocardial infarction or any other arterial thrombosis. The same was true for heterozygotes. The cases of FXII deficiency and arterial thrombosis reported in the literature were evaluated. In every instance, associated risk factors were present that could justify the arterial thrombosis. Dyslipidemia, hypertension, smoking, and diabetes mellitus were the most frequent findings. The examination of the few papers that dealt with the prevalence of arterial thrombosis in patients with severe FXII deficiency showed that only 1 patient of 61 experienced myocardial infarction. In conclusion, it seems that the role of FXII deficiency in the pathogenesis of arterial thrombosis is minor

The role of ultrafast sequences MRI in the diagnostic evaluation and in the therapeutic option in female stress urinary incontinence.

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Does the 5-strand-graft have superior biomechanical behaviour than 4-strand-graft during acl reconstruction?

Purpose. This study aimed to compare the biomechanical proprieties of 4 and 5-strand- grafts. Methods. For the present study, fresh-frozen bovine common digital extensor tendons were used. Tendon grafts were prepared and sized to have a length of almost 27 cm and a cylinder 4 strand diameter of 8 mm. In half of all samples (Group A, n=12,), the graft was formed by 2 bundles duplicated around a metallic rod creating a 4-strand-tendon construct. In the other half of samples (Group B, n= 12,) 5-strand-tendon construct was created duplicating a single tendon around the rod, and tripling the other one. The grafts were preconditioned at 50 N for 10 min, followed by 1,000 cyclic loading between 50 and 250 N. Load-to-failure test was then carried out at a rate of 1 mm/s. Results. No statistically significant differences were found between two groups concern- ing cyclic elongation at the 500th cycle and at the final cycle. An increased stiffness was observed in the Group B during cyclic loads and at pull-out (p<0.05). Significant differ- ences were noted at the ultimate load-to-failure between Group A (1533 ± 454 N) and Group B (1139 ± 276 N) (p< 0.05). Conclusion. This study showed that both graft construct appears to be biomechanical- ly effective in a bovine tendon model. 5-strand-graft showed an increased stiffness and a decreased ultimate load-to-failure comparing to the 4-strand-graft construct. Biomechan- ically, no real benefit could be observed in the clinical setting increasing the numbers of strands used for the ACL reconstructive surgery

Positioning accuracy comparison of GNSS receivers used for mapping and guidance of agricultural machines

Global Navigation Satellite Systems (GNSS) allow the determination of the 3D position of a point on the Earth’s surface by measuring the distance from the receiver antenna to the orbital position of at least four satellites. Selecting and buying a GNSS receiver, depending on farm needs, is the first step for implementing precision agriculture. The aim of this work is to compare the positioning accuracy of four GNSS receivers, different for technical features and working modes: L1/L2 frequency survey-grade Real-Time Kinematic (RTK)-capable Stonex S7-G (S7); L1 frequency RTK-capable Stonex S5 (S5); L1 frequency Thales MobileMapper Pro (TMMP); low-cost L1 frequency Quanum GPS Logger V2 (QLV2). In order to evaluate the positioning accuracy of these receivers, i.e., the distance of the determined points from a reference trajectory, different tests, distinguished by the use or not of Real-Time Kinematic (RTK) differential correction data and/or an external antenna, were carried out. The results show that all satellite receivers tested carried out with the external antenna had an improvement in positioning accuracy. The Thales MobileMapper Pro satellite receiver showed the worst positioning accuracy. The low-cost Quanum GPS Logger V2 receiver surprisingly showed an average positioning error of only 0.550 m. The positioning accuracy of the above-mentioned receiver was slightly worse than that obtained using Stonex S7-G without the external antenna and differential correction (maximum positioning error 0.749 m). However, this accuracy was even better than that recorded using Stonex S5 without differential correction, both with and without the external antenna (average positioning error of 0.962 m and 1.368 m)

Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis

Recent landmark publications from our research group outline a transformative approach to defining, studying and treating amyotrophic lateral sclerosis (ALS). Rather than approaching ALS as a single entity, we advocate targeting therapies to distinct “clusters” of patients based on their specific genomic and molecular features. Our findings point to the existence of a molecular taxonomy for ALS, bringing us a step closer to the establishment of a precision medicine approach in neurology practice

Neutron irradiation test on ATLAS MDT chambers

Abstract The Monitored Drift Tubes (MDT) chambers of the ATLAS muon spectrometer are crucial for the identification of high-momentum final-state muons, which represent very promising and robust signatures of physics at the LHC. They will operate in a high rate and high background environment and therefore their performances should not significantly degrade for the whole ATLAS data taking. The maximum expected total flux, mainly consisting of neutrons and photons in the MeV range, is of the order of 5 kHz/cm 2 for the barrel MDTs, while at SLHC, with machine working at higher luminosity, fluxes can be 10 times higher. To test detector robustness, a MDT test chamber was exposed to intensive neutron irradiation at the TAPIRO ENEA-Casaccia Research Center facility