Purpose
T4-binding globulin (TBG) is the main thyroid hormone (TH) transporter present in human serum. Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the
TBG
(
...SERPINA7
) gene, which is located on the X chromosome. This study was performed to report and evaluate coding region mutations in
TBG
gene for partial thyroxine-binding globulin deficiency.
Methods
A pedigree spanning four generations is described in this study. The proband is a female with partial TBG deficiency. All members of this pedigree underwent thyroid function tests, while Sanger sequencing was used to identify the
TBG
gene mutations. Bioinformatics databases were used to evaluate the deleterious effects of the mutation(s). Two hundred and seven unrelated individuals were used to evaluate the thyroid function of individuals with different
TBG
mutations. A one-way ANOVA was used to analyze the impact of the
TBG
mutations on thyroid function.
Results
TBG
gene sequencing results revealed that the proband had a novel mutation in codon 27 leading to alanine to valine substitution (p.A27V). This mutation was associated with lower serum T4 levels (
p
< 0.0001) when compared to the groups that did not carry the mutation. The previously reported p.L283F mutation was also found in the proband. The hemizygous p.L283F individuals presenting with lower T4 serum and TBG levels (
p
< 0.001) when compared to wildtype males and females. Both mutations were deleterious upon SIFT and PolyPhen-2 evaluation.
Conclusion
Associated with partial thyroxine-binding globulin deficiency, this study reports a novel p.A27V mutation in the
TBG
gene.
To assess the safety of road vehicles running over a long span bridge in high wind, the knowledge of aerodynamic forces and moments on the vehicles is required. This could be obtained through wind ...tunnel investigations and expressed in terms of aerodynamic coefficients. However, very few investigations have been carried out to find aerodynamic coefficients of road vehicles on a bridge deck, compared with the aerodynamic coefficients of road vehicles on the ground. This paper therefore presents the results of wind tunnel tests carried out to determine aerodynamic coefficients of four types of road vehicles over a typical bridge deck. The aerodynamic coefficients of the same road vehicles on the ground are also presented to explore the effects of the bridge deck on aerodynamic coefficients. Different wind directions are taken into consideration to observe variations of aerodynamic coefficients with wind direction. Furthermore, the effects of vehicle position in different road lanes of the bridge deck are investigated. The test results show that the existence of bridge deck reduces side forces for all four types of vehicles remarkably but increases rolling moments to some extent. Such effects also vary with types of vehicles and lanes of the bridge deck where vehicles run.
This paper presents the nonlinear interval optimization (NIO) model to solve optimal power system dispatch (OPSD) with uncertain wind power integrated. In this model, not only the average of the ...dispatching objective, but its deviation are also taken into account. Therefore, the NIO model based on OPSD is formulated as a multi-objective optimization problem. An optimization algorithm, group search optimizer with multiple producers (GSOMP) is applied to obtain Pareto solutions, which show the tradeoff relationship between the average and deviation of the dispatching objective. Then, a decision-making method, the evidential reasoning (ER) approach, is applied to determine the final dispatch solution. Simulation results based on the modified IEEE 30-bus system prove the applicability and effectiveness of the NIO model to deal with the OPSD, considering the integration of the uncertain wind power.
Carbon-supported gold nanoparticles (Au/C) are successfully decorated with mono- or sub-monolayer palladium atoms with different Pd/Au atomic ratios by a chemically epitaxial seeded growth method. ...TEM, UV–vis spectrometry and XRD techniques are used to characterize the particle size, dispersion, palladium coverage on gold seeds and crystal structures of the prepared catalysts. Cyclic voltammetric tests show that the Pd-decorated Au/C (denoted by Pd@Au/C) have higher specific activities than that of Pd/C for the oxidation of ethanol in alkaline media. This suggests that the Pd utilization is improved with such a surface-alloyed nanostructure. In addition, stable chronoamperometric responses are achieved with the so-prepared electrocatalysts during ethanol oxidation.
We report the detailed electronic structure of WTe2 by high resolution angle-resolved photoemission spectroscopy. We resolved a rather complicated Fermi surface of WTe2. Specifically, there are in ...total nine Fermi pockets, including one hole pocket at the Brillouin zone center Γ, and two hole pockets and two electron pockets on each side of Γ along the Γ-X direction. Remarkably, we have observed circular dichroism in our photoemission spectra, which suggests that the orbital angular momentum exhibits a rich texture at various sections of the Fermi surface. This is further confirmed by our density-functional-theory calculations, where the spin texture is qualitatively reproduced as the conjugate consequence of spin-orbital coupling. Since the spin texture would forbid backscatterings that are directly involved in the resistivity, our data suggest that the spin-orbit coupling and the related spin and orbital angular momentum textures may play an important role in the anomalously large magnetoresistance of WTe2. Furthermore, the large differences among spin textures calculated for magnetic fields along the in-plane and out-of-plane directions also provide a natural explanation of the large field-direction dependence on the magnetoresistance.
In the assembly modeling of complex products, it is not unusual facing an explosive growth of assembly relations, or called combination explosion. Through integrating object-oriented methods with the ...knowledge template based modeling, in this paper, a new methodology is proposed to deal with the complexity of the assemblies of large-scale products. As such, the templates with various assembly relations can be defined for complex products; constitutive parts or subassemblies in a product structure are defined as object classes; their features can be encapsulated, and defined or modified freely via the parameters of object classes to meet the requirements of a specific instance. The new method supports reusing knowledge and simplifying assembly modeling of complex products. In this paper, recent literatures on object-oriented methodologies and knowledge template methods for assembly modeling are reviewed, the rationales of object-oriented templates are discussed, and a method is proposed for creating assembly templates for complex products. In the case study included in this paper, the developed method has been applied to digital modeling of aero-engines, thus, validating its performance.
The identification of magnetic reconnection on the dayside of Mars has been elusive owing to the lack of comprehensive plasma and field measurements. Here we present direct measurements of dayside in ...situ reconnection signatures by the comprehensive particles and fields package on board the Mars Atmosphere and Volatile EvolutioN (MAVEN) spacecraft over strong crustal magnetic fields in the southern hemisphere of Mars. During a crossing of a bifurcated current sheet consisting of northward and southward magnetic fields, MAVEN recorded (i) ionospheric photoelectrons trapped on closed magneticfield lines, (ii) Hall magnetic fields and a nonzero normal field with polarity consistent with a crossing northward of the X line, and (iii) northward Alfvenic ion jets. Dayside magnetic reconnection on crustal magnetic fields could control the global configuration and topology of the Martian magnetosphere and alter the ion escape pattern from the dayside ionosphere.
As one of the most promising first wall/blanket structure materials in fusion reactors, oxide dispersion strengthened (ODS) ferritic steel has been extensively studied in past decades. The grain size ...of ODS steels is often between 200 and 1000 nm, called ultrafine-grained (UFG). Refining their grain size, if possible, should further enhance their radiation tolerance. In the present work, we report on a novel zirconium-doped nanocrystalline (NC) 14YWTZ ODS steel composed of a ferritic matrix with an average grain size of 50 nm and high-density oxide nanoprecipitates with an average diameter of 3.3 nm. Both NC and UFG 14YWT ODS steels were irradiated with helium ions at 450 °C. Abnormal lattice shrinking and narrowing of X-ray diffraction peaks are found in irradiated NC ODS steel. The NC ODS steel has an extremely high sink strength of ∼ 3 × 1016 m−2, which is mainly contributed by grain boundaries and effectively inhibits the aggregation of He atoms and the growth of He bubbles. The bubble size, void swelling, and irradiation hardening in NC ODS steel irradiated at a high dose, when compared to those in UFG ODS steel, are significantly smaller. The underlying mechanisms for the high irradiation tolerance in the NC ODS steel are discussed. This work provides an approach to further enhancing the radiation resistance of conventional UFG ODS steels by refining their grain size to nanoscale dimensions.
Fusarium graminearum is a ubiquitous pathogen of cereal crops, including wheat, barley, and maize. Diseases caused by F. graminearum are of particular concern because harvested grains frequently are ...contaminated with harmful mycotoxins such as deoxynivalenol (DON). In this study, we explored the role of Ras GTPases in pathogenesis. The genome of F. graminearum contains two putative Ras GTPase-encoding genes. The two genes (RAS1 and RAS2) showed different patterns of expression under different conditions of nutrient availability and in various mutant backgrounds. RAS2 was dispensable for survival but, when disrupted, caused a variety of morphological defects, including slower growth on solid media, delayed spore germination, and significant reductions in virulence on wheat heads and maize silks. Intracellular cAMP levels were not affected by deletion of RAS2 and exogenous treatment of the ras2 mutant with cAMP did not affect phenotypic abnormalities, thus indicating that RAS2 plays a minor or no role in cAMP signaling. However, phosphorylation of the mitogen-activated protein (MAP) kinase Gpmk1 and expression of a secreted lipase (FGL1) required for infection were reduced significantly in the ras2 mutant. Based on these observations, we hypothesize that RAS2 regulates growth and virulence in F. graminearum by regulating the Gpmk1 MAP kinase pathway.
To determine if posttraumatic nonconvulsive electrographic seizures result in long-term brain atrophy.
Prospective continuous EEG (cEEG) monitoring was done in 140 patients with moderate to severe ...traumatic brain injury (TBI) and in-depth study of 16 selected patients was done using serial volumetric MRI acutely and at 6 months after TBI. Fluorodeoxyglucose PET was done in the acute stage in 14/16 patients. These data were retrospectively analyzed after collection of data for 7 years.
cEEG detected seizures in 32/140 (23%) of the entire cohort. In the selected imaging subgroup, 6 patients with seizures were compared with a cohort of 10 age- and GCS-matched patients with TBI without seizures. In this subgroup, the seizures were repetitive and constituted status epilepticus in 4/6 patients. Patients with seizures had greater hippocampal atrophy as compared to those without seizures (21 +/- 9 vs 12 +/- 6%, p = 0.017). Hippocampi ipsilateral to the electrographic seizure focus demonstrated a greater degree of volumetric atrophy as compared with nonseizure hippocampi (28 +/- 5 vs 13 +/- 9%, p = 0.007). A single patient had an ictal PET scan which demonstrated increased hippocampal glucose uptake.
Acute posttraumatic nonconvulsive seizures occur frequently after TBI and, in a selected subgroup, appear to be associated with disproportionate long-term hippocampal atrophy. These data suggest anatomic damage is potentially elicited by nonconvulsive seizures in the acute postinjury setting.
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