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Background: Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions. Methods: Copy number variation sequencing was performed to determine the microdeletion. The expression of NHS was detected by RT‐PCR. Four family members were tested for X chromosome inactivation. Results: In this study, all members were examined for systemic examinations and genetic testing of four members and two affected subjects are observed. We identified a heterozygous microdeletion of −0.52 Mb at Xp22.13 in a female proband presenting NHS phenotypically. The microdeletion contains the REPS2 and NHS genes and was inherited from a phenotypically normal mother. Of interest, the expression NHS of proband was reduced and the skewed X chromosome inactivation rate reached more than 85% compared with her mother and the control. It was concluded that the haploinsufficiency of the NHS gene may account for the majority of clinical symptoms in the affected subjects. The variability among female carriers presumably results from nonrandom X chromosome inactivation. Conclusion: Our findings broaden the spectrum of NHS mutations and provide molecular insight into NHS clinical prenatal genetic diagnosis. [ABSTRACT FROM AUTHOR]

This study proposes a model predictive control (MPC) method with a fixed weighting factor for three‐phase four‐switch inverter‐fed permanent magnet synchronous motor drives to suppress the capacitor voltage offset. The prediction model of the capacitor voltage difference is obtained based on the relationship between capacitor voltage and phase current. Then by analysing the relationship between basic voltage vector, electromagnetic torque and flux amplitude, the control of electromagnetic torque and flux in the model predictive torque control is transformed into the control of the voltage vector. The dimension of the capacitor voltage difference is the same as that of the voltage vector, hence the cost function with the fixed weighting factor is defined with the consideration of the capacitor voltage offset suppression. The effectiveness of the proposed MPC method is validated by the simulation and experiment. [ABSTRACT FROM AUTHOR]

Introduction: Thalassemia traits and iron deficiency anemia are the most common types of hypochromic microcytic anemia with similar clinical and laboratory features. It is vital to establish a new screening model based on HbA2 levels and red cell indices for the differentiation of TT from IDA in hypochromic microcytic anemia cases. Method: The data comprised of the red blood cell indices and HbA2 prenatal diagnostic test results of 810 individuals who were identified to conform to the following criteria: MCV < 80 fl or MCH < 26 pg. We launched a new model consisting mainly of significative red cell indices and HbA2 levels, as well as proposing cutoff values by using decision trees and logistic regression analyses. Next, we evaluated our new method by comparing the sensitivity, specificity, positive, and negative predictive values with those of the previous formulas. Results: We put forward a new model and compared it with 5 efficient formulas. The new model exhibited the highest accuracy (0.918), with its sensitivity and specificity calculated as 0.917 and 0.921, respectively. Our new model's Youden index was 0.838, which is higher than the other formulas' Youden indices. Conclusions: The new screening model, based on HbA2 levels and red cell indices, is suitable for the screening of thalassemia patients in the hypochromic microcytic anemia group and has the best efficiency in distinguishing TT and IDA. [ABSTRACT FROM AUTHOR]

The molecular crystals of acridonyl-tetraphenylethene (AD-TPE) exhibit an intriguing turn-on and color-tuned luminescence in response to mechanical grinding and hydrostatic compression. On the basis of in-depth experimental and computational studies, it is hypothesized that the origin of the piezochromic behavior from the D-phase to the B-phase is the change of the intramolecular geometrical conformation, especially for the torsion angle between the TPE and AD moiety. The different molecular conformation in the two distinctive solid phases causes the substantial switching of the intra­molecular charge transfer (ICT) process, which can be directly correlated with the subsequent fluorescence from locally excited (LE) state and ICT state in both phases. The AD-TPE molecular system presents a very rare example of high-contrast reversible fluorescence tuning driven by a switching of the excited state in the solid state under the mechanical stimuli, and thus provides a novel mechanism of the piezochromic behavior. [ABSTRACT FROM AUTHOR]

A novel organic fluorophor with high solid state luminescent efficiency based on 1,4-bis(2,2-di(pyridin-2-yl)vinyl)benzene (BDP2VB) was designed and synthesized. It emits faintly in solution, but becomes a strong emitter in the aggregate state, demonstrating its aggregation induced emission (AIE) property. According to the crystal structure analysis, J-type aggregation was formed in the packing mode of the molecule, which was demonstrated to be beneficial to gain high fluorescent quantum efficiency in solid state. Additionally, the emission color of BDP2VB can change dramatically in solid state as well as in solution by the protonation stimuli. [ABSTRACT FROM AUTHOR]

The development of efficient bifunctional catalysts for oxygen reduction and evolution reactions (ORR and OER) is important in the development of rechargeable metal–O2 (air) batteries. Here, a straightforward synthesis of highly efficient bifunctional OER/ORR catalysts MnNiFe/LIG (M111/LIG and M311/LIG where the numbers reflect the relative molar ratio of Mn, Ni, and Fe species) is presented through a facile re‐lasing method. The MnNiFe/LIG shows promising performance in Li–O2 and Li–air batteries without the presence of a redox mediator. The Li–O2 battery with M311/LIG catalysts is reliably discharged and charged for 150 cycles while the discharge potential slightly increases by 0.24 V. The Li‐breathing air battery with M311/LIG catalyst is stable during 350 cycles while the Li‐breathing air battery with M111/LIG catalyst is stable for ≈300 cycles. The function of the M111/LIG and M311/LIG catalysts in the Li–O2 batteries and the influence of the catalysts on the discharge and decomposition products are also investigated. This study promotes further development in carbon–metal oxide composite cathode catalysts for metal–air batteries and underscores the efficacy of laser‐induced graphene for electrode fabrications. [ABSTRACT FROM AUTHOR]

Turn‐on and color‐tuned piezochromic luminescence of acridonyl‐tetraphenylethene(AD‐TPE) with high‐contrast is obtained by B. Xu, W. Tian, and colleagues in response to external mechanical stimuli. The results on page 4005 indicate that the unique behavior is driven by a switching of the excited state in solid state from localized excited (LE) state to intramolecular charge transfer (ICT) state under mechanical stimuli, which will inspire a new approach to realize the piezochromic luminescent materials and give a new insight into the nature of the piezochromic behavior. [ABSTRACT FROM AUTHOR]

In the title compound, [Zn(C(18)H(14)N(4))(2)(H(2)O)(4)](NO(3))(2)·1.49H(2)O, the Zn(II) atom, lying on an inversion center, is coordinated by two N atoms from two N,N'-bis-(pyridin-3-yl-methyl-idene)benzene-1,4-diamine ligands and four water mol-ecules in a distorted octa-hedral geometry. The nitrate anion is disordered over two sets of sites, with an occupancy ratio of 0.744 (4):0.256 (4). The uncoordinated water mol-ecule is also disordered with an occupancy factor of 0.744 (4). O-H⋯O and O-H⋯N hydrogen bonds link the complex cations, nitrate anions and uncoordinated water mol-ecules into a supra-molecular layer parallel to (102).