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1.
Gesundheitswesen ; 77 Suppl 1: S33-4, 2015 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-23970392
2.
Bone ; 55(1): 150-7, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23454488

RESUMO

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.


Assuntos
Fosfatase Alcalina/genética , Encefalopatias/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Hipofosfatasia/genética , Mutação/genética , Evolução Fatal , Células HEK293 , Humanos , Hipofosfatasia/enzimologia , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Proteínas Mutantes/metabolismo , Transporte Proteico , Frações Subcelulares/enzimologia
3.
Phys Rev Lett ; 108(11): 117002, 2012 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-22540500

RESUMO

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.

4.
Phys Rev Lett ; 100(22): 227001, 2008 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-18643446

RESUMO

We use quasiparticle tunneling across La2-xCexCuO4 grain boundary junctions to probe the superconducting state and its disappearance with increasing temperature and magnetic field. A zero bias conductance peak due to zero energy surface Andreev bound states is a clear signature of the phase coherence of the superconducting state. Hence, such a peak must disappear at or below the upper critical field Bc2(T). For La2-xCexCuO4 this approach sets a lower bound for Bc2(0) approximately 25 T which is substantially higher than reported previously. The method of probing the superconducting state via Andreev bound states should also be applicable to other cuprate superconductors.

5.
Phys Rev Lett ; 93(24): 247001, 2004 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-15697848

RESUMO

At the surface of a d-wave superconductor, a zero-energy peak in the quasiparticle spectrum can be observed. This peak appears due to Andreev bound states and is maximal if the nodal direction of the d-wave pairing potential is perpendicular to the boundary. We examine the effect of a single Abrikosov vortex in front of a reflecting boundary on the zero-energy density of states. We can clearly see a splitting of the low-energy peak and therefore a suppression of the zero-energy density of states in a shadowlike region extending from the vortex to the boundary. This effect is stable for different models of the single Abrikosov vortex, for different mean free paths and also for different distances between the vortex center and the boundary. This observation promises to have also a substantial influence on the differential conductance and the tunneling characteristics for low excitation energies.

6.
Science ; 255(5044): 583-6, 1992 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-17792381

RESUMO

The topographic and magnetic surface structure of a natural single crystal of magnetite (Fe(3)0(4)), a common mineral, has been studied from the submicrometer scale down to the atomic scale with a scanning tunneling microscope having nonmagnetic tungsten as well as ferromagnetic iron probe tips. Several different (001) crystal planes were imaged to atomic resolution with both kinds of tips. A selective imaging of the octahedrally coordinated Fe B-sites in the Fe-O planes, and even a selective imaging of the different magnetic ions Fe(2+) and Fe(3+), has been achieved, demonstrating for the first time that magnetic imaging can be realized at the atomic level.

8.
J Prosthet Dent ; 63(1): 102-3, 1990 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-2295981

RESUMO

This article describes a procedure for combining a facebow with a laboratory work pan to make a convenient vehicle for storage and transportation of all casts, records, and equipment used to make a prosthesis for a patient. The use of this procedure will assure that everything necessary for the laboratory procedures will be in the laboratory at the same time.


Assuntos
Equipamentos Odontológicos , Meios de Transporte/métodos , Registros Odontológicos , Humanos , Laboratórios Odontológicos
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