Clinical syndromes associated with Coenzyme Q10 deficiency.

Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same COQ gene can cause different clinical pictures. Here, we present an updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies

Steering a future through Scenarios : into the academic library of the future

Author name used in this publication: Lai-chong AuAccepted ManuscriptPublishe

Hill Air Force Base, Utah, Final Record of Decision and Responsiveness Summary for Operable Unit 2

This decision document presents the selected remedy for Operable Unit 2 (OU2) at Hill Air Force Base (HAFB), Utah. It was selected in accordance with the Comprehensive Environmental Response, Compensation, and Liability Act of 1980 (CERCLA), as amended by the Superfund Amendments and Reauthorization Act of 1986 (SARA), and to the extent practicable, the National Oil and Hazardous Substances Pollution Contingency Plan (NCP). This decision is based on the Administrative Record for this site. The State of Utah and the U.s. Environmental Protection Agency (EPA) concur with the selected remedy

The nature of localization in graphene under quantum Hall conditions

Particle localization is an essential ingredient in quantum Hall physics [1,2]. In conventional high mobility two-dimensional electron systems Coulomb interactions were shown to compete with disorder and to play a central role in particle localization [3]. Here we address the nature of localization in graphene where the carrier mobility, quantifying the disorder, is two to four orders of magnitude smaller [4,5,6,7,8,9,10]. We image the electronic density of states and the localized state spectrum of a graphene flake in the quantum Hall regime with a scanning single electron transistor [11]. Our microscopic approach provides direct insight into the nature of localization. Surprisingly, despite strong disorder, our findings indicate that localization in graphene is not dominated by single particle physics, but rather by a competition between the underlying disorder potential and the repulsive Coulomb interaction responsible for screening.Comment: 18 pages, including 5 figure

Spectral weight transfer in a disorder-broadened Landau level

In the absence of disorder, the degeneracy of a Landau level (LL) is $N=BA/\phi_0$, where $B$ is the magnetic field, $A$ is the area of the sample and $\phi_0=h/e$ is the magnetic flux quantum. With disorder, localized states appear at the top and bottom of the broadened LL, while states in the center of the LL (the critical region) remain delocalized. This well-known phenomenology is sufficient to explain most aspects of the Integer Quantum Hall Effect (IQHE) [1]. One unnoticed issue is where the new states appear as the magnetic field is increased. Here we demonstrate that they appear predominantly inside the critical region. This leads to a certain ``spectral ordering'' of the localized states that explains the stripes observed in measurements of the local inverse compressibility [2-3], of two-terminal conductance [4], and of Hall and longitudinal resistances [5] without invoking interactions as done in previous work [6-8].Comment: 5 pages 3 figure

Dynamic biospeckle analysis, a new tool for the fast screening of plant nematicide selectivity

Background: Plant feeding, free-living nematodes cause extensive damage to plant roots by direct feeding and, in the case of some trichodorid and longidorid species, through the transmission of viruses. Developing more environmentally friendly, target-specific nematicides is currently impeded by slow and laborious methods of toxicity testing. Here, we developed a bioactivity assay based on the dynamics of light 'speckle' generated by living cells and we demonstrate its application by assessing chemicals' toxicity to different nematode trophic groups.Results: Free-living nematode populations extracted from soil were exposed to methanol and phenyl isothiocyanate (PEITC). Biospeckle analysis revealed differing behavioural responses as a function of nematode feeding groups. Trichodorus nematodes were less sensitive than were bacterial feeding nematodes or non-trichodorid plant feeding nematodes. Following 24 h of exposure to PEITC, bioactivity significantly decreased for plant and bacterial feeders but not for Trichodorus nematodes. Decreases in movement for plant and bacterial feeders in the presence of PEITC also led to measurable changes to the morphology of biospeckle patterns.Conclusions: Biospeckle analysis can be used to accelerate the screening of nematode bioactivity, thereby providing a fast way of testing the specificity of potential nematicidal compounds. With nematodes' distinctive movement and activity levels being visible in the biospeckle pattern, the technique has potential to screen the behavioural responses of diverse trophic nematode communities. The method discriminates both behavioural responses, morphological traits and activity levels and hence could be used to assess the specificity of nematicidal compounds.</p

Properties of Graphene: A Theoretical Perspective

In this review, we provide an in-depth description of the physics of monolayer and bilayer graphene from a theorist's perspective. We discuss the physical properties of graphene in an external magnetic field, reflecting the chiral nature of the quasiparticles near the Dirac point with a Landau level at zero energy. We address the unique integer quantum Hall effects, the role of electron correlations, and the recent observation of the fractional quantum Hall effect in the monolayer graphene. The quantum Hall effect in bilayer graphene is fundamentally different from that of a monolayer, reflecting the unique band structure of this system. The theory of transport in the absence of an external magnetic field is discussed in detail, along with the role of disorder studied in various theoretical models. We highlight the differences and similarities between monolayer and bilayer graphene, and focus on thermodynamic properties such as the compressibility, the plasmon spectra, the weak localization correction, quantum Hall effect, and optical properties. Confinement of electrons in graphene is nontrivial due to Klein tunneling. We review various theoretical and experimental studies of quantum confined structures made from graphene. The band structure of graphene nanoribbons and the role of the sublattice symmetry, edge geometry and the size of the nanoribbon on the electronic and magnetic properties are very active areas of research, and a detailed review of these topics is presented. Also, the effects of substrate interactions, adsorbed atoms, lattice defects and doping on the band structure of finite-sized graphene systems are discussed. We also include a brief description of graphane -- gapped material obtained from graphene by attaching hydrogen atoms to each carbon atom in the lattice.Comment: 189 pages. submitted in Advances in Physic

PREDICTION OF USERS' BEHAVIOUR PATTERNS IMPACT ON ENERGY PERFORMANCE OF A SOCIAL HOUSING IN CREMONA, ITALY

Social housing is a crucial challenge of European cities, facing the pressing need to provide accommodation for an increasing and changing population with new family models. Functionality, adaptability and quality of living are fundamental topics in social housing. Economic constraints concur to shape the size of apartments and construction choices in the design phase. Further, energy efficiency is a key factor for long-term economic sustainability by reducing running cost in the operation phase. The availability of calibrated energy models is fundamental to perform effective energy management during building lifespan and the ability to investigate users' behaviour by means of physical-statistical models is fundamental to improve current design and operation practices.The case study presented is a social housing located in Cremona, Italy, built by a Social Fund engaged in retrofit interventions on existing social housing and new construction. The variability of energy use, resulting from different occupancy, appliances, ventilation patterns and comfort settings has been investigated by means of simulations. Behavioural patterns are inherently dependent on age, number of components of the family, comfort preferences and activities (i.e. appliances and lighting use). Further, possible occupants' aggregations are constrained by size and flexibility of the architectural layout of residential units (e.g. number of users, change in ability due to ageing, etc.). The results are presented in a graphical way (i.e. energy demand vs outdoor temperature), enabling statistical correlation among energy demand and physical parameters assumed in different simulation scenarios, which can be used for model calibration in the operation phase (for energy management purposes). The results show the large variability of energy performance in different scenarios and the large difference with respect to standard assumptions, highlighting the benefits of parametric behavioural simulation to obtain realistic data for techno-economic assessments

Minimal Holocene retreat of large tidewater glaciers in Køge Bugt, southeast Greenland

Abstract Køge Bugt, in southeast Greenland, hosts three of the largest glaciers of the Greenland Ice Sheet; these have been major contributors to ice loss in the last two decades. Despite its importance, the Holocene history of this area has not been investigated. We present a 9100 year sediment core record of glaciological and oceanographic changes from analysis of foraminiferal assemblages, the abundance of ice-rafted debris, and sortable silt grain size data. Results show that ice-rafted debris accumulated constantly throughout the core; this demonstrates that glaciers in Køge Bugt remained in tidewater settings throughout the last 9100 years. This observation constrains maximum Holocene glacier retreat here to less than 6 km from present-day positions. Retreat was minimal despite oceanic and climatic conditions during the early-Holocene that were at least as warm as the present-day. The limited Holocene retreat of glaciers in Køge Bugt was controlled by the subglacial topography of the area; the steeply sloping bed allowed glaciers here to stabilise during retreat. These findings underscore the need to account for individual glacier geometry when predicting future behaviour. We anticipate that glaciers in Køge Bugt will remain in stable configurations in the near-future, despite the predicted continuation of atmospheric and oceanic warming

Feminismos y performance en América Latina. El tendedero y Un violador en tu camino

This text addresses the close relationship that exists between performance and feminisms in Latin America. For this, a succinct account is made of the first feminist waves until reaching the third wave, at which point the relationship between performance and feminisms begins, that is, from the second half of the 20th century. To examine this relationship, two emblematic performances against harassment and violence against women, created in Latin America, are analyzed: The Clothesline, an action by Mónica Mayer, carried out in Mexico City in 1978; and the performance A rapist on your path, carried out by the LASTESIS collective, in Valparaíso, Chile, in 2019. The two performances have had a great international impact.Este texto aborda la estrecha relación que se da entre la performance y los feminismos en América Latina. Para ello, se hace un relato sucinto de las primeras olas feministas hasta llegar a la tercera ola, momento en que inicia la relación de la performance y los feminismos, esto es, a partir de la segunda mitad del siglo XX. Para examinar esta relación se analizan dos emblemáticos performances contra el acoso y la violencia hacia las mujeres, creados en América Latina: El Tendedero, acción de Mónica Mayer, realizada en la ciudad de México, en 1978; y la performance Un violador en tu camino, realizada por el colectivo LASTESIS, en Valparaíso, Chile, en 2019. Las dos performances han tenido un gran impacto internacional