Mitochondrial DNA (mtDNA) presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. mtDNA typing based on sequences of the control region or full genomic sequences analysis is used to analyze a variety of forensic samples such as old bones, teeth and hair, as well as other biological samples where the DNA content is low. Evaluation and reporting of the results requires careful consideration of biological issues as well as other issues such as nomenclature and reference population databases. In this work we review mitochondrial DNA profiling methods used for human identification and present their use in the main cases of humanidentification focusing on the most relevant issues for forensics.
Non-tuberculous mycobacteria (NTM) are responsible for an increase in mycobacterial disease in many developed countries. However the epidemiology, especially in patients without HIV infection, remains difficult to determine. We studied a convenience sample of 5497 HIV-negative patients receiving care at our pneumology centres. Among 510 patients with mycobacterial isolates, NTM were demonstrated in 58, all showing signs of lung disease. The mycobacteria isolated were M. intracellulare (n = 9, 15.5%), M. fortuitum (n = 8, 13.8%), M. gordonae (n = 7, 12.1%), M. kansasii (n = 6, 10.3%), M. chelonae (n = 5, 8.6%), M. avium (n = 4, 6.9%), M. abscessus (n = 3, 5.2%), M. peregrinum (n = 3, 5.2%), M. triplex (n = 3, 5.2%), M. spp. (n = 3, 5.2%), M. szulgai (n = 3, 5.2%), M. mucogenicum (n = 2, 3.4%), M. lentiflavum (n = 1, 1.7%) and M. simiae (n = 1, 1.7%). The present high percentage of NTM strains among mycobacterial isolates (approximately 11%), suggests the emergence of NTM infections as a public health problem. Larger, multicentre and multiregional studies or mandatory reporting will be required to better understand the changing epidemiology of NTM in patients with lung disease.
Abstract:Harmonic drives are profusely used in aerospace mainly because of their compactness and large reduction ratio. However, their use in cryogenic environments is still a challenge. Lubrication and fatigue are non-trivial issues under these conditions. The objective of the Magnetic-Superconductor Cryogenic Non-contact Harmonic Drive (MAGDRIVE) project, funded by the EU Space FP7, is to design, build, and test a new concept of MAGDRIVE. Non-contact interactions among magnets, soft magnetic materials, and superconductors are efficiently used to provide a high reduction ratio gear that smoothly and naturally operates at cryogenic environments. The limiting elements of conventional harmonic drives (teeth, flexspline, and ball bearings) are substituted by contactless mechanical components (magnetic gear and superconducting magnetic bearings). The absence of contact between moving parts prevents wear, lubricants are no longer required, and the operational lifetime is greatly increased. This is the first mechanical reducer in mechanical engineering history without any contact between moving parts. In this paper, the test results of a −1:20 inverse reduction ratio MAGDRIVE prototype are reported. In these tests, successful operation at 40 K and 10 −3 Pa was demonstrated for more than 1.5 million input cycles. A maximum torque of 3 N· m and an efficiency of 80% were demonstrated. The maximum tested input speed was 3000 rpm, six times the previous existing record for harmonic drives at cryogenic temperatures.
Tramadol concentrations and analgesic effect are dependent on the CYP2D6 enzymatic activity. It is well known that some genetic polymorphisms are responsible for the variability in the expression of this enzyme and in the individual drug response. The detection of allelic variants described as non-functional can be useful to explain some circumstances of death in the study of post-mortem cases with tramadol. A Sanger sequencing methodology was developed for the detection of genetic variants that cause absent or reduced CYP2D6 activity, such as *3, *4, *6, *8, *10 and *12 alleles. This methodology, as well as the GC/MS method for the detection and quantification of tramadol and its main metabolites in blood samples was fully validated in accordance with international guidelines. Both methodologies were successfully applied to 100 post-mortem blood samples and the relation between toxicological and genetic results evaluated. Tramadol metabolism, expressed as its metabolites concentration ratio (N-desmethyltramadol/Odesmethyltramadol), has been shown to be correlated with the poormetabolizer phenotype based on genetic characterization. It was also demonstrated the importance of enzyme inhibitors identification in toxicological analysis. According to our knowledge, this is the first study where a CYP2D6 sequencing methodology is validated and applied to post-mortem samples, in Portugal. The developed methodology allows the data collection of post-mortem cases, which is of primordial importance to enhance the application of these genetic tools to forensic toxicology and pathology. We further state that this paper reports original work and is not under consideration for publication elsewhere. National Institute of Legal Medicine and Forensic SciencesCorresponding author: Suzana Fonseca Contacts:Email: sfonseca@dlinml.mj.pt
Expected advantages to Customers, to utilities and to environment, from the connection of a microturbine to a low voltage grid, are presented. The main components and loads of the designed microgrid are characterised, and some performance results that shall be achieved on the system are presented. Furthermore, some technical challenges are focused to emphasise the microgrid implementation barriers in the Portuguese study case.
Purpose This paper aims to report the first iteration on the Light Detection and Ranging (LIDAR) Engineering Model altimeter named HELENA. HELENA is a Time of Flight (TOF) altimeter that provides time-tagged distances and velocity measurements. The LIDAR can be used for support near asteroid navigation and provides scientific information. The HELENA design comprises two types of technologies: a microchip laser and low noise sensor. The synergies between these two technologies enable developing a compact instrument for range measurements of up to 14 km. Thermal-mechanical and radiometric simulations of the HELENA telescope are reported in this paper. The design is subjected to vibrational, static and thermal conditions, and it was possible to conclude by the results that the telescope is compliant with the random vibration levels, the static load and the operating temperatures. Design/methodology/approach The Asteroid Impact & Deflection Assessment (AIDA) is a collaboration between the NASA DART mission and ESA Hera mission. The aim scope is to study the asteroid deflection through a kinetic collision. DART spacecraft will collide with Didymos-B, while ground stations monitor the orbit change. HERA spacecraft will study the post-impact scenario. The HERA spacecraft is composed by a main spacecraft and two small CubeSats. HERA will monitor the asteroid through cameras, radar, satellite-to-satellite doppler tracking, LIDAR, seismometry and gravimetry. Findings The HELENA design comprises two types of technologies: a microchip laser and low noise sensor. The synergies between these two technologies enable developing a compact instrument for range measurements of up to 14 km. Originality/value In this paper is reported the first iteration on the LIDAR Engineering Model altimeter named HELENA. HELENA is a TOF altimeter that provides time-tagged distances and velocity measurements. The LIDAR can be used for support near asteroid navigation and provides scientific information. The HELENA design comprises two types of technologies: a microchip laser and low noise sensor. The synergies between these two technologies enable developing a compact instrument for range measurements of up to 14 km.
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