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1.
Phys Rev Lett ; 130(8): 086704, 2023 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-36898116

RESUMEN

We report the manifestation of field-induced Berezinskii-Kosterlitz-Thouless (BKT) correlations in the weakly coupled spin-1/2 Heisenberg layers of the molecular-based bulk material [Cu(pz)_{2}(2-HOpy)_{2}](PF_{6})_{2}. At zero field, a transition to long-range order occurs at 1.38 K, caused by a weak intrinsic easy-plane anisotropy and an interlayer exchange of J^{'}/k_{B}≈1 mK. Because of the moderate intralayer exchange coupling of J/k_{B}=6.8 K, the application of laboratory magnetic fields induces a substantial XY anisotropy of the spin correlations. Crucially, this provides a significant BKT regime, as the tiny interlayer exchange J^{'} only induces 3D correlations upon close approach to the BKT transition with its exponential growth in the spin-correlation length. We employ nuclear magnetic resonance measurements to probe the spin correlations that determine the critical temperatures of the BKT transition as well as that of the onset of long-range order. Further, we perform stochastic series expansion quantum Monte Carlo simulations based on the experimentally determined model parameters. Finite-size scaling of the in-plane spin stiffness yields excellent agreement of critical temperatures between theory and experiment, providing clear evidence that the nonmonotonic magnetic phase diagram of [Cu(pz)_{2}(2-HOpy)_{2}](PF_{6})_{2} is determined by the field-tuned XY anisotropy and the concomitant BKT physics.

2.
Nat Biomed Eng ; 7(4): 559-575, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36266536

RESUMEN

Electrical neurostimulation is effective in the treatment of neurological disorders, but associated recording artefacts generally limit its applications to open-loop stimuli. Real-time and continuous closed-loop control of brain activity can, however, be achieved by pairing concurrent electrical recordings and optogenetics. Here we show that closed-loop optogenetic stimulation with excitatory opsins enables the precise manipulation of neural dynamics in brain slices from transgenic mice and in anaesthetized non-human primates. The approach generates oscillations in quiescent tissue, enhances or suppresses endogenous patterns in active tissue and modulates seizure-like bursts elicited by the convulsant 4-aminopyridine. A nonlinear model of the phase-dependent effects of optical stimulation reproduced the modulation of cycles of local-field potentials associated with seizure oscillations, as evidenced by the systematic changes in the variability and entropy of the phase-space trajectories of seizures, which correlated with changes in their duration and intensity. We also show that closed-loop optogenetic neurostimulation could be delivered using intracortical optrodes incorporating light-emitting diodes. Closed-loop optogenetic approaches may be translatable to therapeutic applications in humans.


Asunto(s)
Optogenética , Convulsiones , Ratones , Animales , Ratones Transgénicos , Primates , Encéfalo
3.
Clin Oncol (R Coll Radiol) ; 33(5): 283-291, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33341333

RESUMEN

AIMS: To report long-term outcomes of patients treated with stereotactic ablative radiotherapy (SABR) for early stage, peripherally located non-small cell lung cancer. MATERIALS AND METHODS: Data were collected retrospectively between September 2009 and May 2019. Electronic medical records were reviewed for baseline characteristics, treatment details and outcomes. All patients were treated according to local protocol based on the national UK SABR Consortium guidelines. Risk-adapted treatment schedules were used depending on the size and the location of the tumour (54 Gy in three fractions, 55 Gy in five fractions, 60 Gy in eight fractions or 50 Gy in 10 fractions). Overall survival outcomes were evaluated using the Kaplan-Meier method. RESULTS: In total, 412 patients were included in the analysis. The median age was 76 years (range 48-93 years). Histological confirmation was obtained in 233 cases (56.6%). The median overall survival for all patients was 42.3 months (95% confidence interval 37.3-47.3 months), with 3- and 5-year overall survival of 52.8% and 37.3%, respectively. For biopsy-proven patients (56.6%), 3- and 5-year overall survival was 57.3% and 40.1%, respectively. With respect to overall survival, univariate and multivariate analysis revealed no significant difference in survival by technique (volume-modulated arc therapy versus conformal; three-dimensional computed tomography versus four-dimensional computed tomography), tumour location, smoking status at first contact, pre-treatment tumour stage or pre-treatment standardised uptake value. Survival was poorer for patients who received the 50 Gy in 10 fractions schedule. Treatment was very well tolerated with very low rates of grade 3-4 toxicity (1%). CONCLUSIONS: SABR for peripherally located, medically inoperable non-small cell lung cancer can be safely and effectively implemented in a non-academic institution with appropriate equipment and training. Overall survival outcomes and toxicity rates are comparable with internationally published studies. Patients treated with 50 Gy in 10 fractions had a poorer survival outcome.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Neoplasias Pulmonares/mortalidad , Radiocirugia/mortalidad , Anciano , Anciano de 80 o más Años , Instituciones Oncológicas , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico por imagen , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Pulmón de Células no Pequeñas/cirugía , Femenino , Tomografía Computarizada Cuatridimensional , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Radiocirugia/métodos , Estudios Retrospectivos , Tasa de Supervivencia
4.
Insect Mol Biol ; 29(5): 477-489, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32683761

RESUMEN

Polydnaviruses associated with ichneumonid parasitoid wasps (Ichnoviruses) encode large numbers of genes, often in multigene families. The Ichnovirus Vinnexin gene family, which is expressed in parasitized lepidopteran larvae, encodes homologues of Innexins, the structural components of insect gap junctions. Here, we have examined intracellular behaviours of the Campoletis sonorensis Ichnovirus (CsIV) Vinnexins, alone and in combination with a host Innexin orthologue, Innexin2 (Inx2). QRT-PCR verified that transcription of CsIV vinnexins occurs contemporaneously with inx2, implying co-occurrence of Vinnexin and Inx2 proteins. Confocal microscopy demonstrated that epitope-tagged VinnexinG (VnxG) and VinnexinQ2 (VnxQ2) exhibit similar subcellular localization as Spodoptera frugiperda Inx2 (Sf-Inx2). Surface biotinylation assays verified that all three proteins localize to the cell surface, and cytochalasin B and nocodazole that they rely on actin and microtubule cytoskeletal networks for localization. Immunomicroscopy following co-transfection of constructs indicates extensive co-localization of Vinnexins with each other and Sf-Inx2, and live-cell imaging of mCherry-labelled Inx2 supports that Vinnexins may affect Sf-Inx2 distribution in a Vinnexin-specific fashion. Our findings support that the Vinnexins may disrupt host cell physiology in a protein-specific manner through altering gap junctional intercellular channel communication, as well as indirectly by affecting multicellular junction characteristics.


Asunto(s)
Genes de Insecto/fisiología , Genes Virales/fisiología , Familia de Multigenes/fisiología , Polydnaviridae/fisiología , Spodoptera/genética , Transcripción Genética , Animales , Interacciones Huésped-Patógeno , Larva/genética , Larva/crecimiento & desarrollo , Larva/parasitología , Larva/virología , Polydnaviridae/genética , Spodoptera/crecimiento & desarrollo , Spodoptera/parasitología , Spodoptera/virología , Avispas/fisiología , Avispas/virología
5.
Nat Commun ; 8: 15148, 2017 05 05.
Artículo en Inglés | MEDLINE | ID: mdl-28474679

RESUMEN

The notion of a quasiparticle, such as a phonon, a roton or a magnon, is used in modern condensed matter physics to describe an elementary collective excitation. The intrinsic zero-temperature magnon damping in quantum spin systems can be driven by the interaction of the one-magnon states and multi-magnon continuum. However, detailed experimental studies on this quantum many-body effect induced by an applied magnetic field are rare. Here we present a high-resolution neutron scattering study in high fields on an S=1/2 antiferromagnet C9H18N2CuBr4. Compared with the non-interacting linear spin-wave theory, our results demonstrate a variety of phenomena including field-induced renormalization of one-magnon dispersion, spontaneous magnon decay observed via intrinsic linewidth broadening, unusual non-Lorentzian two-peak structure in the excitation spectra and a dramatic shift of spectral weight from one-magnon state to the two-magnon continuum.

6.
Phys Rev Lett ; 114(3): 037202, 2015 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-25659018

RESUMEN

High-precision dc magnetization measurements have been made on Cu(C4H4N2) (NO3)2 in magnetic fields up to 14.7 T, slightly above the saturation field Hs=13.97 T, in the temperature range from 0.08 to 15 K. The magnetization curve and differential susceptibility at the lowest temperature show excellent agreement with exact theoretical results for the spin-1/2 Heisenberg antiferromagnet in one dimension. A broad peak is observed in magnetization measured as a function of temperature, signaling a crossover to a low-temperature Tomonaga-Luttinger-liquid regime. With an increasing field, the peak moves gradually to lower temperatures, compressing the regime, and, at Hs, the magnetization exhibits a strong upturn. This quantum critical behavior of the magnetization and that of the specific heat withstand quantitative tests against theory, demonstrating that the material is a practically perfect one-dimensional spin-1/2 Heisenberg antiferromagnet.

7.
J Phys Condens Matter ; 26(2): 026003, 2014 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-24326446

RESUMEN

The spin dynamics of copper pyrazine dinitrate (Cu(C4H4N2)(NO3)2), a model spin-1/2 Heisenberg antiferromagnetic (AF) chain system, was investigated by means of electron spin resonance (ESR). Using the high-field ESR we evidenced the inequivalence of Cu sites belonging to adjacent spin chains in the ac planes of this compound. It was revealed that the dominating interchain interaction is of zig-zag-type. This interaction gives rise to geometrical frustration strongly affecting the character of AF ordering. Combining our experimental findings with the results of a quasiclassical approach we predict that at low temperatures the system orders in an incommensurate spiral state.

9.
Plant Biol (Stuttg) ; 15(4): 769-75, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23451982

RESUMEN

Plant respiratory metabolism is complicated by the fact that the rate of non-photorespiratory mitochondrial CO2 release in the light (R light) may be lower than the rate of leaf respiration in the dark (R dark). A body of work on this topic implies a linkage between light inhibition of respiration and photorespiration, although the direction of effect and underlying mechanisms remain uncertain. In this study we used a variety of short- and long-term environmental manipulations to explicitly manipulate the rate of photorespiration (νo) and quantify the effect on the inhibition of mitochondrial respiration in the light (R light:R dark). We address the following three questions: (i) will the R light:R dark ratio increase or decrease with high CO2 or low O2 and at low temperatures; (ii) does νo correlate with R light:R dark, and if so, in what way; (iii) will suppression of respiration by light (the 'Kok effect') be seen to the same extent in Zea mays, a C4 plant, and in Triticum aestivum, a C3 plant? We found that Rlight :Rdark decreased under conditions that suppressed νo in wheat, and this resulted in a positive relationship between R light:R dark and νo. Inhibition of respiration by light in C4 maize did not respond to environmental treatment, and the fixed R light:R dark (0.46-0.72) was consistent with the wheat response, assuming a νo approaching zero. The most likely mechanism to explain this finding is that R light increases (or the inhibition of respiration by light decreases) when there is an increase in photorespiration and thus an increase in the demand for TCA cycle substrates associated with the recovery of photorespiratory cycle intermediates in the peroxisome. This work is significant because it combines a comparison of C3 and C4 metabolism with a range of environmental treatments to independently suppress νo.


Asunto(s)
Fotosíntesis/efectos de la radiación , Ribulosa-Bifosfato Carboxilasa/metabolismo , Triticum/metabolismo , Zea mays/metabolismo , Dióxido de Carbono/metabolismo , Respiración de la Célula , Oscuridad , Luz , Mitocondrias/metabolismo , Oxígeno/metabolismo , Hojas de la Planta/metabolismo , Hojas de la Planta/efectos de la radiación , Transpiración de Plantas/efectos de la radiación , Temperatura , Triticum/efectos de la radiación , Zea mays/efectos de la radiación
10.
Phys Rev Lett ; 108(9): 097201, 2012 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-22463663

RESUMEN

Using micromechanical force magnetometry, we have measured the magnetization of the strong-leg spin-1/2 ladder compound (C(7)H(10)N)(2)CuBr(2) at temperatures down to 45 mK. Low-temperature magnetic susceptibility as a function of field exhibits a maximum near the critical field H(c) at which the magnon gap vanishes, as expected for a gapped one-dimensional antiferromagnet. Above H(c) a clear minimum appears in the magnetization as a function of temperature, as predicted by theory. In this field region, the susceptibility in conjunction with our specific-heat data yields the Wilson ratio R(W). The result supports the relation R(W)=4K, where K is the Tomonaga-Luttinger-liquid parameter.

11.
J Virol ; 85(19): 10222-9, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21813607

RESUMEN

Polydnaviruses are double-stranded DNA viruses associated with some subfamilies of ichneumonoid parasitoid wasps. Polydnavirus virions are delivered during wasp parasitization of a host, and virus gene expression in the host induces alterations of host physiology. Infection of susceptible host caterpillars by the polydnavirus Campoletis sonorensis ichnovirus (CsIV) leads to expression of virus genes, resulting in immune and developmental disruptions. CsIV carries four homologues of insect gap junction genes (innexins) termed vinnexins, which are expressed in multiple tissues of infected caterpillars. Previously, we demonstrated that two of these, VinnexinD and VinnexinG, form functional gap junctions in paired Xenopus oocytes. Here we show that VinnexinQ1 and VinnexinQ2, likewise, form junctions in this heterologous system. Moreover, we demonstrate that the vinnexins interact differentially with the Innexin2 orthologue of an ichnovirus host, Spodoptera frugiperda. Cell pairs coexpressing a vinnexin and Innexin2 or pairs in which one cell expresses a vinnexin and the neighboring cell Innexin2 assemble functional junctions with properties that differ from those of junctions composed of Innexin2 alone. These data suggest that altered gap junctional intercellular communication may underlie certain cellular pathologies associated with ichnovirus infection of caterpillar hosts.


Asunto(s)
Conexinas/metabolismo , Interacciones Huésped-Patógeno , Uniones Intercelulares/fisiología , Polydnaviridae/patogenicidad , Proteínas Virales/metabolismo , Animales , Uniones Intercelulares/virología , Oocitos/virología , Spodoptera , Xenopus
12.
Learn Behav ; 38(2): 126-44, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20400733

RESUMEN

The results of several recent studies of human associative learning indicate that people will learn more rapidly about cues that have previously been experienced as predictive of events of significance, as compared with cues previously experienced as nonpredictive. Notably, however, these experiments have typically established this prior predictiveness by means of pretraining with multiple, simultaneously presented cues, some of which are more predictive than others. The present experiments instead investigated the influence of prior predictiveness on future learning when this predictiveness was established via pretraining with individual cues, each of which was the best available predictor of the outcome with which it was paired. Results indicate that, following this pretraining, human participants again show better learning about previously predictive cues than about previously nonpredictive cues.


Asunto(s)
Aprendizaje por Asociación , Percepción de Color , Señales (Psicología) , Memoria a Corto Plazo , Aprendizaje por Probabilidad , Aprendizaje Discriminativo , Humanos , Transferencia de Experiencia en Psicología
13.
Inorg Chem ; 49(4): 1750-60, 2010 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-20088489

RESUMEN

On the basis of magnetic susceptibility and heat capacity data, copper pyrazine dinitrate crystal [abbreviated CuPz(NO(3))(2)] has long been considered a good prototype for S = (1)/(2) antiferromagnetic (AFM) Heisenberg chain behavior down to 0.05 K. However, a recent muon-spin rotation experiment indicated the presence of a previously unnoticed 1D to 3D magnetic transition below 0.107 K. Our aim in this work is to perform a rigorous quantitative study of the mechanism of this 1D-3D magnetic transformation, by doing a first-principles bottom-up study of the CuPz(NO(3))(2) crystal at 158 K, where the magnetic properties are clearly 1D, and at 2 K, at which the neutron structure (reported in this work) is considered nearly identical with that below 0.1 K (due to small thermal effects). A change in the magnetic topology is found between these two structures: at 158 K, there are isolated AFM spin chains (J(intra) = -5.23 cm(-1)), while at 2 K, the magnetic chains (J(intra) = -5.96 cm(-1)) weakly interact (the largest of the J(inter) parameters is -0.09 cm(-1)). This change is caused by thermal contraction upon cooling (no crystallographic phase transition is detected down to 2 K, and one will not likely occur below that temperature). The computed and experimental magnetic susceptibility chi(T) curves are nearly identical. The calculated heat capacity C(p)(T) curve has a maximum at 6.92 K, close to the 5.20 K maximum found in the experimental curve at zero external field. In spite of the 3D magnetic topology of the crystal at low temperature, the magnetic susceptibility and heat capacity curves behave as a pure 1D AFM chain in all regions because of the large J(intra)/J(inter) ratio (66.2 in absolute value) and the effect of including the J(inter) interactions will not be easily appreciated in any of these experiments. The impact of the presence of odd- and even-membered regular AFM finite chains in the CuPz(NO(3))(2) crystal has also been evaluated. Odd-membered interacting chains produce an increase in both chi(T) and C(p)(T) curves when the temperature is very close to zero, in agreement with the experimental observations, while even-membered chains produce a small shoulder in the C(p)(T) curve between 0.8 and 5 K. No changes are seen in the remaining regions. Concerning the spin gap, odd-membered chains present a quasi-zero gap but the finite even-membered chains still have a sizable one. Finally, the effect of increasing the magnitude of J(inter) was investigated by fixing the value of J(intra) to that found for the 2 K CuPz(NO(3))(2) crystal. The magnetic susceptibility and heat capacity curves remain practically unchanged.

14.
Phys Rev Lett ; 105(13): 137207, 2010 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-21230808

RESUMEN

We study the magnetic-field-induced quantum phase transition from a gapped quantum phase that has no magnetic long-range order into a gapless phase in the spin-1/2 ladder compound bis(2,3-dimethylpyridinium) tetrabromocuprate (DIMPY). At temperatures below about 1 K, the specific heat in the gapless phase attains an asymptotic linear temperature dependence, characteristic of a Tomonaga-Luttinger liquid. Inelastic neutron scattering and the specific heat measurements in both phases are in good agreement with theoretical calculations, demonstrating that DIMPY is the first model material for an S=1/2 two-leg spin ladder in the strong-leg regime.


Asunto(s)
Magnetismo , Compuestos Organometálicos/química , Compuestos de Piridinio/química , Teoría Cuántica , Marcadores de Spin , Neutrones , Transición de Fase , Dispersión de Radiación
15.
Phys Rev Lett ; 102(19): 197201, 2009 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-19518991

RESUMEN

We have studied the two-dimensional S=1/2 square-lattice antiferromagnet Cu(pz)_{2}(ClO4)_{2} (where pz denotes pyrazine), using neutron inelastic scattering and series expansion calculations. We show that the presence of antiferromagnetic next-nearest-neighbor interactions enhances quantum fluctuations associated with resonating valence bonds. Intermediate magnetic fields lead to a selective tuning of resonating valence bonds and a spectacular inversion of the zone-boundary dispersion, providing novel insight into 2D antiferromagnetism in the quantum limit.

16.
Phys Rev Lett ; 100(13): 137202, 2008 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-18517993

RESUMEN

We present a study of the magnetic field-dependent thermal transport in the spin S=1 chain material Ni(C(2)H(8)N(2))(2)NO(2)(ClO(4)) (NENP). The measured thermal conductivity is found to be very sensitive to the field-induced changes in the spin excitation spectrum. The magnetic contribution to the total heat conductivity is analyzed in terms of a quasiparticle model, and we obtain a temperature and momentum independent mean free path. This implies that the motion of quasiparticles is effectively three dimensional despite the tiny interchain coupling.

17.
Tree Physiol ; 28(4): 537-49, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18244941

RESUMEN

We sought to quantify changes in tree species composition, forest structure and aboveground forest biomass (AGB) over 76 years (1930-2006) in the deciduous Black Rock Forest in southeastern New York, USA. We used data from periodic forest inventories, published floras and a set of eight long-term plots, along with species-specific allometric equations to estimate AGB and carbon content. Between the early 1930s and 2000, three species were extirpated from the forest (American elm (Ulmus americana L.), paper birch (Betula papyrifera Marsh.) and black spruce (Picea mariana (nigra) (Mill.) BSP)) and seven species invaded the forest (non-natives tree-of-heaven (Ailanthus altissima (Mill.) Swingle) and white poplar (Populus alba L.) and native, generally southerly distributed, southern catalpa (Catalpa bignonioides Walt.), cockspur hawthorn (Crataegus crus-galli L.), red mulberry (Morus rubra L.), eastern cottonwood (Populus deltoides Bartr.) and slippery elm (Ulmus rubra Muhl.)). Forest canopy was dominated by red oak and chestnut oak, but the understory tree community changed substantially from mixed oak-maple to red maple-black birch. Density decreased from an average of 1500 to 735 trees ha(-1), whereas basal area doubled from less than 15 m(2) ha(-1) to almost 30 m(2) ha(-1) by 2000. Forest-wide mean AGB from inventory data increased from about 71 Mg ha(-1) in 1930 to about 145 Mg ha(-1) in 1985, and mean AGB on the long-term plots increased from 75 Mg ha(-1) in 1936 to 218 Mg ha(-1) in 1998. Over 76 years, red oak (Quercus rubra L.) canopy trees stored carbon at about twice the rate of similar-sized canopy trees of other species. However, there has been a significant loss of live tree biomass as a result of canopy tree mortality since 1999. Important constraints on long-term biomass increment have included insect outbreaks and droughts.


Asunto(s)
Biomasa , Árboles/fisiología , Geografía , New York , Hojas de la Planta/fisiología , Especificidad de la Especie , Árboles/anatomía & histología
18.
Inorg Chem ; 46(21): 8577-83, 2007 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-17845028

RESUMEN

We report a systematic investigation of the temperature-dependent infrared vibrational spectra of a family of chemically related coordination polymer magnets based upon bridging bifluoride (HF(2)-) and terminal fluoride (F-) ligands in copper pyrazine complexes including Cu(HF(2))(pyz)(2)BF(4), Cu(HF(2))(pyz)(2)ClO(4), and CuF(2)(H(2)O)(2)(pyz). We compare our results with several one- and two-dimensional prototype materials including Cu(pyz)(NO(3))(2) and Cu(pyz)(2)(ClO(4))(2). Unusual low-temperature hydrogen bonding, local structural transitions associated with stronger low-temperature hydrogen bonding, and striking multiphonon effects that derive from coupling of an infrared-active fundamental with strong Raman-active modes of the pyrazine building-block molecule are observed. On the basis of the spectroscopic evidence, these interactions are ubiquitous to this family of coordination polymers and may work to stabilize long-range magnetic ordering at low temperature. Similar interactions are likely to be present in other molecule-based magnets.

19.
Phys Rev Lett ; 98(10): 107201, 2007 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-17358560

RESUMEN

We present experiments on the thermal transport in the spin-1/2 chain compound copper pyrazine dinitrate Cu(C4H4N2)(NO3)2. The heat conductivity shows a surprisingly strong dependence on the applied magnetic field B, characterized at low temperatures by two main features. The first one appearing at low B is a characteristic dip located at muBB approximately kBT, that may arise from umklapp scattering. The second one is a plateaulike feature in the quantum critical regime, muB|B - Bc| < kBT, where Bc is the saturation field at T=0. The latter feature clearly points towards a momentum and field-independent mean free path of the spin excitations, contrary to theoretical expectations.

20.
J Med Genet ; 42(8): e50, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16061556

RESUMEN

Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder.


Asunto(s)
Malformaciones Arteriovenosas/diagnóstico , Síndrome de Hamartoma Múltiple/diagnóstico , Adulto , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/genética , Análisis Mutacional de ADN , Femenino , Mutación del Sistema de Lectura , Síndrome de Hamartoma Múltiple/genética , Humanos , Persona de Mediana Edad , Fosfohidrolasa PTEN/genética , Radiografía
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