RESUMO
We use neutron scattering to show that ferromagnetism and antiferromagnetism coexist in the low T state of the pyrochlore quantum magnet [Formula: see text] While magnetic Bragg peaks evidence long-range static ferromagnetic order, inelastic scattering shows that short-range correlated antiferromagnetism is also present. Small-angle neutron scattering provides direct evidence for mesoscale magnetic structure that we associate with metastable antiferromagnetism. Classical Monte Carlo simulations based on exchange interactions inferred from [Formula: see text]-oriented high-field spin wave measurements confirm that antiferromagnetism is metastable within the otherwise ferromagnetic ground state. The apparent lack of coherent spin wave excitations and strong sensitivity to quenched disorder characterizing [Formula: see text] is a consequence of this multiphase magnetism.
RESUMO
Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. Different classifications of these diseases have been proposed, often based upon the involved genes and/or the clinical presentation. The clinical features of these diseases present some overlap of phenotypes among distinct genetic entities, depending mainly on the penetrance of mutations. In this study, using a clinical, genetic, and molecular approach, we analyzed a family with two affected members who had clinical and histological features resembling erythrokeratodermia variabilis (EKV) or a type of erythrodermic hyperkeratosis with palmoplantar keratoderma. Despite of the clinical presentation, we demonstrated that the affected patients were genetically double heterozygous for two different mutations in the ABCA12 gene, known to be responsible for harlequin ichthyosis. To explain the mild phenotype of our patients, we performed a molecular characterization of the skin. In the upper layers of the epidermis, the results showed a patchy presence of the glucosyl-ceramides (GlcCer), which is the lipid transported by ABCA12, fundamental in contributing to skin impermeability. Indeed, the two mutations detected do not completely abolish ABCA12 activity, indicating that the mild phenotype is due to a partial loss of function of the enzyme, thus giving rise to an intermediate phenotype resembling EKVP, due to a partial depletion of GlcCer deposition.
Assuntos
Eritroceratodermia Variável , Ictiose Lamelar , Ictiose , Ceratodermia Palmar e Plantar , Humanos , Eritroceratodermia Variável/genética , Ictiose Lamelar/genética , Ictiose/genética , Mutação , Glucosilceramidas , Transportadores de Cassetes de Ligação de ATP/genéticaRESUMO
We present a comprehensive neutron scattering study of the breathing pyrochlore magnet LiGaCr_{4}S_{8}. We observe an unconventional magnetic excitation spectrum with a separation of high- and low-energy spin dynamics in the correlated paramagnetic regime above a spin-freezing transition at 12(2) K. By fitting to magnetic diffuse-scattering data, we parametrize the spin Hamiltonian. We find that interactions are ferromagnetic within the large and small tetrahedra of the breathing pyrochlore lattice, but antiferromagnetic further-neighbor interactions are also essential to explain our data, in qualitative agreement with density-functional-theory predictions [Ghosh et al., npj Quantum Mater. 4, 63 (2019)2397-464810.1038/s41535-019-0202-z]. We explain the origin of geometrical frustration in LiGaCr_{4}S_{8} in terms of net antiferromagnetic coupling between emergent tetrahedral spin clusters that occupy a face-centered-cubic lattice. Our results provide insight into the emergence of frustration in the presence of strong further-neighbor couplings, and a blueprint for the determination of magnetic interactions in classical spin liquids.
RESUMO
Connexins are membrane-spanning proteins that allow for the formation of cell-to-cell channels and cell-to-extracellular space hemichannels. Many connexin subtypes are expressed in kidney cells. Some mutations in connexin genes have been linked to various human pathologies, including cardiovascular, neurodegenerative, lung, and skin diseases, but the exact role of connexins in kidney disease remains unclear. Some hypotheses about a connection between genetic mutations, endoplasmic reticulum (ER) stress, and the unfolded protein response (UPR) in kidney pathology have been explored. The potential relationship of kidney disease to abnormal production of connexin proteins, mutations in their genes together with ER stress, or the UPR is still a matter of debate. In this scenario, it is tantalizing to speculate about a possible role of connexins in the setting of kidney pathologies that are thought to be caused by a deregulated podocyte protein expression, the so-called podocytopathies. In this article, we give examples of the roles of connexins in kidney (patho)physiology and propose avenues for further research concerning connexins, ER stress, and UPR in podocytopathies that may ultimately help refine drug treatment.
Assuntos
Conexinas/fisiologia , Nefropatias/etiologia , Adolescente , Feminino , Humanos , Rim/fisiologiaRESUMO
BACKGROUND: We evaluated a modified Roche NH3L method developed by our group that significantly reduced the error flag "> ABS (> Absorbance)" on the COBAS 6000 (c501 module) automated platform. METHODS: Our study was finalized to validate the NH3L open method on COBAS 6000 (c501 module) with imprecision and correlation tests. In addition, the NH3L open method was evaluated for determination of lower limit of blank (LoB), lower limit of detection (LoD), and accuracy. RESULTS: The imprecision test showed good results with CV for all samples tested < 3 and < 5 for within-run and between-run assays. Correlation tests of NH3L classic and NH3L open method showed good correlation with R square = 0.95. "> ABS" obtained with the NH3L open were only 2% compared to NH3L classic method. CONCLUSIONS: Our study shows that the NH3L open method is reproducible and stable, providing values which correlate with those obtained by the traditional method. The ability to reduce the alarm > ABS by more than 95% thanks to lower background absorbance values makes this method reliable, avoiding re-testing or the need for sample dilutions.
Assuntos
Amônia/sangue , Análise Química do Sangue/instrumentação , Ensaios de Triagem em Larga Escala/instrumentação , Automação Laboratorial , Biomarcadores/sangue , Desenho de Equipamento , Humanos , Limite de Detecção , Miniaturização , Valor Preditivo dos Testes , Reprodutibilidade dos TestesRESUMO
Dynamics in a quantum material is described by quantized collective motion: a quasiparticle. The single-quasiparticle description is useful for a basic understanding of the system, whereas a phenomenon beyond the simple description such as quasiparticle decay which affects the current carried by the quasiparticle is an intriguing topic. The instability of the quasiparticle is phenomenologically determined by the magnitude of the repulsive interaction between a single quasiparticle and the two-quasiparticle continuum. Although the phenomenon has been studied in several materials, thermodynamic tuning of the quasiparticle decay in a single material has not yet been investigated. Here we show, by using neutron scattering, magnetic field control of the magnon decay in a quantum antiferromagnet RbFeCl3, where the interaction between the magnon and continuum is tuned by the field. At low fields where the interaction is small, the single magnon decay process is observed. In contrast, at high fields where the interaction exceeds a critical magnitude, the magnon is pushed downwards in energy and its lifetime increases. Our study demonstrates that field control of quasiparticle decay is possible in the system where the two-quasiparticle continuum covers wide momentum-energy space, and the phenomenon of the magnon avoiding decay is ubiquitous.
RESUMO
Urinary tract infection (UTI) is one of the most common diseases occurring in both hospitalized and community subjects. Urine culture is the gold standard test for the diagnosis of UTI, but approximately 80% are negative. The aim of this study was to evaluate the performance of the automated urinalysis system Atellica® 1500 (Siemens Healthineers, Erlangen, Germany) as screening tool for ruling out UTI. A total of 5,490 urine specimens from outpatients, that had simultaneous requests for urinalysis and urine culture, were evaluated. Of the 5,490 samples, 833 (15.2 %) resulted positive for urine culture. Among UTI-related parameters, bacterial count was considered the most apt to be diagnostic of subjects affected by UTI. Using a cutoff value for bacteria count equal to 180 elements/µL, Atellica® 1500 detected bacteriuria with diagnostic sensitivity (Se) of 88.1 %, diagnostic specificity (Sp) of 82.1 %, and negative predictive value (NPV) of 95.2 %. Comparing our results with the literature's data, we observed that our Se and NPV were lower, while our Sp was higher. Our data showed that the Atellica® 1500 system detected bacteria with satisfactory analytical performance, but the results obtained do not make it a reliable tool for excluding UTI with urinalysis.
Assuntos
Infecções Bacterianas , Bacteriúria , Infecções Urinárias , Humanos , Infecções Urinárias/urina , Urinálise/métodos , Bacteriúria/diagnóstico , Bacteriúria/microbiologia , Bacteriúria/urina , Bactérias , Sensibilidade e EspecificidadeRESUMO
Direct-geometry time-of-flight chopper neutron spectroscopy is instrumental in studying dynamics in liquid, powder, and single crystal systems. We report here that real-space techniques in optical imagery can be adapted to obtain reciprocal-space super resolution dispersion for phonon or magnetic excitations from single-crystal neutron spectroscopy measurements. The procedure to reconstruct super-resolution energy dispersion of excitations relies on an accurate determination of the momentum and energy-dependent point spread function and a dispersion correction technique inspired by an image disparity calculation technique commonly used in stereo imaging. Applying these methods to spinwave dispersion data from a virtual neutron experiment demonstrates â¼5-fold improvement over nominal energy resolution.
RESUMO
Polymerized ionic liquids (PolyILs) are promising candidates for a broad range of technologies. However, the relatively low conductivity of PolyILs at room temperature has strongly limited their applications. In this work, we provide new insights into the roles of various microscopic parameters controlling ion transport in these polymers, which are crucial for their rational design and practical applications. Using broadband dielectric spectroscopy and neutron and light scattering techniques, we found a clear connection between the activation energy for conductivity, fast dynamics, and high-frequency shear modulus in PolyILs at their glass transition temperature (Tg). In particular, our analysis reveals a correlation between conductivity and the amplitude of fast picosecond fluctuations at Tg, suggesting the possible involvement of fast dynamics in lowering the energy barrier for ion conductivity. We also demonstrate that both the activation energy for ion transport and the amplitude of the fast fluctuations depend on the high-frequency shear moduli of PolyILs, thus identifying a practically important parameter for tuning conductivity. The parameters recognized in this work and their connection to the ionic conductivity of PolyILs set the stage for a deeper understanding of the mechanism of ion transport in PolyILs in the glassy state.
RESUMO
Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. The management of TSC patients is heavily burdensome in terms of time and healthcare costs both for the families and for the healthcare system. Management options include conservative approaches, surgery, pharmacotherapy with mammalian target of rapamycin inhibitors and recently proposed options such as therapy with anti-EGFR antibody and ultrasound-guided percutaneous microwaves. So far, however, no systematically accepted strategy has been found that is both clinically and economically efficient. Thus, decisions are tailored to patients' characteristics, resource availability and clinical and technical expertise of each single center. This paper reviews the pathophysiology and the clinical (diagnostic-therapeutic) management of TSC.
Assuntos
Gerenciamento Clínico , Esclerose Tuberosa/epidemiologia , Saúde Global , Humanos , Incidência , Doenças Raras , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/terapiaRESUMO
With advancing age, the functional reserve of many organs tends to decrease. In particular, the lean body mass, the levels of serum albumin, the blood flow to the liver, and the glomerular filtration rate are reduced in elderly individuals and can be further impaired by the concomitant presence of acute or chronic kidney disease. Moreover, patients with kidney disease are often affected by comorbid processes and are prescribed multiple medications. The aging process also modifies some drug interactions, including the affinity of some drugs for their receptor, the number of receptors, and the cell responses upon receptor activation. Therefore, older patients with kidney disease are particularly susceptible to the risks of adverse drug reactions. Planning a pharmacological regimen in such patients is confounded by the paucity of information available on the pharmacokinetic and pharmacodynamic profiles of a large number of drugs commonly used in this group of patients. Finally, many aged patients suffer from unintentional poor compliance. In this review, the problems physicians face in designing safe and effective medication management in elderly individuals are discussed, paying attention to those more frequently used, which may be potentially harmful in patients with kidney disease. The risks of overdosing and underdosing are outlined, and some recommendations to reduce the risk of adverse drug reactions are provided. A review of the literature covering the field of drug management in older patients with kidney disease was performed by selecting those articles published between January 1, 1990, and December 1, 2014, using PubMed as a search engine with the keywords elderly, kidney disease, drugs, drug interaction, and renal function.
Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Atenção Primária à Saúde , Insuficiência Renal Crônica/fisiopatologia , Idoso , Interações Medicamentosas , Humanos , Rim/fisiopatologia , Médicos de Atenção Primária , PolimedicaçãoRESUMO
Vitamin D is a hormone with pleiotropic effects. It mainly regulates calcium and phosphate metabolism through interactions with FGF23 and its receptor klotho. In addition, it has been shown that Vitamin D also regulates the immune response and has protective effects from cardiovascular disease, cancer and infections. Most renal transplant recipients have overt Vitamin D deficiency, a condition that may be associated with a decline in graft function and other complications. After kidney transplantation, elevated levels of FGF23 may predict increased risks of death and allograft loss. Theoretically, an optimal Vitamin D supplementation might favor operational tolerance and protect transplant recipients from the triad cardiovascular disease-cancer-infection. However, more solid data are needed to confirm this and to set the optimal level of serum Vitamin D supplementation in order to attain the best clinical outcome.