Experiments on the iron-pnictide superconductors appear to show some materials where the ground state is fully gapped, and others where low-energy excitations dominate, possibly indicative of gap ...nodes. Within the framework of a five-orbital spin fluctuation theory for these systems, we discuss how changes in the doping, the electronic structure or interaction parameters can tune the system from a fully gapped to a nodal sign-changing gap with s-wave (A{sub 1g}) symmetry (s{sup {+-}}). In particular, we focus on the role of the hole pocket at the ({pi}, {pi}) point of the unfolded Brillouin zone, identified as crucial to the pairing by Kuroki et al (2009 Phys. Rev. B 79 224511), and show that its presence leads to additional nesting of hole and electron pockets, which stabilizes the isotropic s{sup {+-}} state. The pocket's contribution to the pairing can be tuned by doping, surface effects and by changes in interaction parameters, which we examine. Analytic expressions for orbital pairing vertices calculated within the random phase approximation (RPA) fluctuation exchange approximation allow us to draw connections between aspects of the electronic structure, interaction parameters and the form of the superconducting gap.
The interface properties of high-temperature (high-Tc) copper oxide superconductors have been of interest for many years, and play an essential role in Josephson junctions, superconducting cables and ...microwave electronics. In particular, the maximum critical current achievable in high-Tc wires and tapes is well known to be limited by the presence of grain boundaries, regions of mismatch between crystallites with misoriented crystalline axes. Studies of single artificially fabricated grain boundaries have revealed that the critical current Jc of a grain boundary junction depends exponentially on the misorientation angle. Until now microscopic understanding of this apparently universal behaviour has been lacking. We present here the results of a microscopic evaluation based on a construction of fully three-dimensional YBa2Cu3O7-delta grain boundaries using molecular dynamics. With these structures, we calculate an effective tight-binding Hamiltonian for the d-wave superconductor with a grain boundary. The critical current is then shown to follow an exponential suppression with grain boundary angle alpha. We identify the build-up of charge inhomogeneities as the dominant mechanism for the suppression of the supercurrent. PUBLICATION ABSTRACT
Hypophosphatasia (HPP) is a heterogeneous rare, inherited disorder of bone and mineral metabolism caused by different mutations in the ALPL gene encoding the isoenzyme, tissue-nonspecific alkaline ...phosphatase (TNAP). Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease. TNAP deficiency, however, may also result in neurological symptoms such as neonatal seizures. The exact biological role of TNAP in the human brain is still not known and the pathophysiology of neurological symptoms due to TNAP deficiency in HPP is not understood in detail. In this report, we describe the clinical features and functional studies of a patient with severe perinatal HPP which presented with rapidly progressive encephalopathy caused by new compound heterozygous mutations in the ALPL gene which result in a functional ALPL "knock out", demonstrated in vitro. In contrast, an in vitro simulation of the genetic status of his currently asymptomatic parents who are both heterozygous for one mutation, showed a residual in vitro AP activity of above 50%. Interestingly, in our patient, the fatal outcome was due to progressive encephalopathy which was refractory to antiepileptic therapy including pyridoxine, rather than hypomineralization and respiratory insufficiency often seen in HPP patients. The patient's cranial MRI showed progressive cystic degradation of the cortex and peripheral white matter with nearly complete destruction of the cerebrum. To our knowledge, this is the first MRI-based report of a deleterious neurological clinical outcome due to a progressive encephalopathy in an infant harboring a functional human ALPL "knock out". This clinical course of disease suggests that TNAP is involved in development and may be responsible for multiple functions of the human brain. According to our data, a certain amount of residual TNAP activity might be mandatory for normal CNS function in newborns and early childhood.
We present a self-consistent real space formulation of spin-fluctuation mediated d-wave pairing. By calculating all relevant inhomogeneous spin and charge susceptibilities in real space within the ...random phase approximation (RPA), we obtain the effective pairing interaction and study its spatial dependence near both local potential and hopping impurities. A remarkably large enhancement of the pairing interaction may be obtained near the impurity site. We discuss the relevance of our result to inhomogeneities observed by scanning tunneling spectroscopy on the surface of cuprate superconductors.
Strong correlations are known to severely reduce the mobility of charge carriers near half filling and thus have an important influence on the current carrying properties of grain boundaries in the ...high-T(c) cuprates. In this Letter we present an extension of the Gutzwiller projection approach to treat electronic correlations below as well as above half filling consistently. We apply this method to investigate the critical current through grain boundaries with a wide range of misalignment angles for electron- and hole-doped systems. For the latter excellent agreement with experimental data is found. We further provide a detailed comparison to an analogous weak-coupling evaluation.
Clinical Aspects of Hypophosphatasia: An Update Hofmann, C.; Girschick, H. J.; Mentrup, B. ...
Clinical reviews in bone and mineral metabolism,
06/2013, Volume:
11, Issue:
2
Journal Article
Peer reviewed
Hypophosphatasia (HPP) is a heterogeneous rare inborn error of bone and mineral metabolism caused by mutations in the
ALPL
gene encoding the isoenzyme, tissue-nonspecific alkaline phosphatase (TNAP). ...These mutations result in a decreased level of TNAP activity and increased levels of its substrates, including inorganic pyrophosphate, pyridoxal-5′-phosphate and phosphoethanolamine. Clinical presentations are highly variable, ranging from stillbirth and absence of mineralization in severe disease to mild dental problems or osteopenia in adulthood. Further clinical symptoms include defective bone mineralization with bone deformities, recurrent fractures, chronic non-bacterial osteomyelitis, craniosynostosis, neonatal seizures, nephrocalcinosis, muscular hypotonia, failure to thrive and dental abnormalities with premature exfoliation of teeth and caries. Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease but patients with mild phenotypes (adult form or Odonto-HPP) usually do not have a limitation in their life expectancy. Although TNAP is a ubiquitous enzyme, mostly known for its crucial role during mineralization of bone and teeth, its exact biological role in different human organs is still unclear, and the pathophysiology of symptoms due to TNAP deficiency in HPP are not understood in detail. Since inflammation and tissue destruction of the musculoskeletal system may occur in HPP, TNAP may also play an important role in controlling inflammatory processes. Recent investigations provide evidence that TNAP is also essentially involved in the development of the central nervous system and might contribute to multiple functions of the human brain. HPP can be diagnosed on clinical, biochemical and radiological criteria, and genetic testing confirms the diagnosis and is useful for genetic counseling. Since clinical symptoms are highly variable, patients should be followed up by a multidisciplinary team having experience in HPP treatment. Up to now, no curative treatment of HPP is available. Therefore, symptomatic treatment in particular with regard to pain, seizures and other metabolic phenomena is most important. However, recently, enzyme replacement therapy with a bone-targeted recombinant human TNAP molecule has been reported to improve bone mineralization, respiratory function and physical activity in severely affected infants with HPP, and further clinical trials are ongoing. Hopefully, this and other new therapeutic strategies may improve the prognosis and quality of life of patients with HPP and may contribute to our understanding of bone metabolism in general.
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