A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsal surfaces of the hands and feet, in a "glove-and-socks" distribution. The histopathologic study showed marked hyperkeratosis, acanthosis, and normogranulosis, without epidermolysis. Her genetic study detected compound heterozygous mutation in exon 3 of the ARS gene encoding SLURP-1. Family history did not reveal any other affected members and no consanguineous relationship was found. In view of these findings, we diagnosed this case as the first reported sporadic case of MDM in Korea, the farthest location from the endemic island of Meleda

Acral Lentiginous Melanoma Developing during Long-standing Atypical Melanosis: Usefulness of Dermoscopy for Detection of Early Acral Melanoma

Clinical guidelines suggest that suspicious pigmented lesions of the plantar or palmar area require biopsy for early detection of acral melanoma. We present here a case of acral lentiginous melanoma in which various melanocytic atypia was observed at each biopsy site, including focal melanocytic proliferation. We suggest that this atypical melanosis is part of a contiguous phase of invasive tumor growth, which is known as the very early stage of melanoma in situ. In addition, noninvasive dermoscopy has been effective for the early discovery of hidden lesions of acral melanoma

Observation of Bose-Einstein Condensation in a Strong Synthetic Magnetic Field

Extensions of Berry's phase and the quantum Hall effect have led to the discovery of new states of matter with topological properties. Traditionally, this has been achieved using gauge fields created by magnetic fields or spin orbit interactions which couple only to charged particles. For neutral ultracold atoms, synthetic magnetic fields have been created which are strong enough to realize the Harper-Hofstadter model. Despite many proposals and major experimental efforts, so far it has not been possible to prepare the ground state of this system. Here we report the observation of Bose-Einstein condensation for the Harper-Hofstadter Hamiltonian with one-half flux quantum per lattice unit cell. The diffraction pattern of the superfluid state directly shows the momentum distribution on the wavefuction, which is gauge-dependent. It reveals both the reduced symmetry of the vector potential and the twofold degeneracy of the ground state. We explore an adiabatic many-body state preparation protocol via the Mott insulating phase and observe the superfluid ground state in a three-dimensional lattice with strong interactions.Comment: 6 pages, 5 figures. Supplement: 6 pages, 4 figure

The New Physics at RHIC. From Transparency to High pt_t Suppression

Heavy ion collisions at RHIC energies (Au+Au collisions at $\sqrt{s_{NN}}=200$ GeV) exhibit significant new features as compared to earlier experiments at lower energies. The reaction is characterized by a high degree of transparency of the collisions partners leading to the formation of a baryon-poor central region. In this zone, particle production occurs mainly from the stretching of the color field. The initial energy density is well above the one considered necessary for the formation of the Quark Gluon Plasma, QGP. The production of charged particles of various masses is consistent with chemical and thermal equilibrium. Recently, a suppression of the high transverse momentum component of hadron spectra has been observed in central Au+Au collisions. This can be explained by the energy loss experienced by leading partons in a medium with a high density of unscreened color charges. In contrast, such high $p_t$ jets are not suppressed in d+Au collisions suggesting that the high $p_t$ suppression is not due to initial state effects in the ultrarelativistic colliding nuclei.Comment: 15 pages, 11 figures. to appear in Nucl. Physics A. Invited talk at 'Nucleus-Nucleus Collisions 2003' conference, Mosco

The Human Frontal Oculomotor Cortical Areas Contribute Asymmetrically to Motor Planning in a Gap Saccade Task

BACKGROUND: Saccadic eye movements are used to rapidly align the fovea with the image of objects of interest in peripheral vision. We have recently shown that in children there is a high preponderance of quick latency but poorly planned saccades that consistently fall short of the target goal. The characteristics of these multiple saccades are consistent with a lack of proper inhibitory control of cortical oculomotor areas on the brainstem saccade generation circuitry. METHODOLOGY/PRINCIPAL FINDINGS: In the present paper, we directly tested this assumption by using single pulse transcranial magnetic stimulation (TMS) to transiently disrupt neuronal activity in the frontal eye fields (FEF) and supplementary eye fields (SEF) in adults performing a gap saccade task. The results showed that the incidence of multiple saccades was increased for ispiversive but not contraversive directions for the right and left FEF, the left SEF, but not for the right SEF. Moreover, this disruption was most substantial during the approximately 50 ms period around the appearance of the peripheral target. A control condition in which the dorsal motor cortex was stimulated demonstrated that this was not due to any non-specific effects of the TMS influencing the spatial distribution of attention. CONCLUSIONS/SIGNIFICANCE: Taken together, the results are consistent with a direction-dependent role of the FEF and left SEF in delaying the release of saccadic eye movements until they have been fully planned

The IceCube Realtime Alert System

Following the detection of high-energy astrophysical neutrinos in 2013, their origin is still unknown. Aiming for the identification of an electromagnetic counterpart of a rapidly fading source, we have implemented a realtime analysis framework for the IceCube neutrino observatory. Several analyses selecting neutrinos of astrophysical origin are now operating in realtime at the detector site in Antarctica and are producing alerts to the community to enable rapid follow-up observations. The goal of these observations is to locate the astrophysical objects responsible for these neutrino signals. This paper highlights the infrastructure in place both at the South Pole detector site and at IceCube facilities in the north that have enabled this fast follow-up program to be developed. Additionally, this paper presents the first realtime analyses to be activated within this framework, highlights their sensitivities to astrophysical neutrinos and background event rates, and presents an outlook for future discoveries.Comment: 33 pages, 9 figures, Published in Astroparticle Physic

Rifting in heterogeneous lithosphere inferences from numerical modeling of the northern North Sea and the Oslo Graben.

Permian rifting and magmatism are widely documented across NW Europe. The different Permian basins often display contrasting structural styles and evolved in lithospheric domains with contrasting past evolution and contrasting thermotectonic ages. In particular, the Oslo Graben and the northern North Sea rift initiated in close areas of northern Europe. The Oslo Graben evolved in the cold and stable Precambrian lithosphere of Fennoscandia, whereas the northern North Sea rift took birth in freshly reworked Caledonian lithosphere. Huge volumes of magmatic rocks characterize the relatively narrow Oslo Graben. In contrast, little magmatism is documented for the wide northern North Sea rift. Differences in timing between both rifts are inferred but still debated. We present numerical thermomechanical models along a lithospheric E-W section that involves both the Oslo Graben and the northern North Sea area. Because the modeled section crosses the boundary between Caledonian and Proterozoic provinces, thermal and compositional heterogeneities are considered. As is suggested by various geophysical data sets, we also consider lithospheric thickness heterogeneities in the Precambrian lithosphere. Modeling results suggest that the northern North Sea was on top of "weak" lithosphere very sensitive to far-field stresses. Consequently, we suggest that rifting in the northern North Sea began as early as regional extension was effective (i.e., Late Carboniferous-Early Permian) and does not postdate the Oslo Graben as it is commonly assumed. Rifting in the "strong" Precambrian lithosphere is unexpected. Modeling results suggest that a pre-existing lithospheric thickness contrast within the Fennoscandian lithosphere favored rifting in the Oslo Graben

Identifying Prototypical Components in Behaviour Using Clustering Algorithms

Quantitative analysis of animal behaviour is a requirement to understand the task solving strategies of animals and the underlying control mechanisms. The identification of repeatedly occurring behavioural components is thereby a key element of a structured quantitative description. However, the complexity of most behaviours makes the identification of such behavioural components a challenging problem. We propose an automatic and objective approach for determining and evaluating prototypical behavioural components. Behavioural prototypes are identified using clustering algorithms and finally evaluated with respect to their ability to represent the whole behavioural data set. The prototypes allow for a meaningful segmentation of behavioural sequences. We applied our clustering approach to identify prototypical movements of the head of blowflies during cruising flight. The results confirm the previously established saccadic gaze strategy by the set of prototypes being divided into either predominantly translational or rotational movements, respectively. The prototypes reveal additional details about the saccadic and intersaccadic flight sections that could not be unravelled so far. Successful application of the proposed approach to behavioural data shows its ability to automatically identify prototypical behavioural components within a large and noisy database and to evaluate these with respect to their quality and stability. Hence, this approach might be applied to a broad range of behavioural and neural data obtained from different animals and in different contexts