Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.

BACKGROUND: Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation. CASE PRESENTATION: In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS. CONCLUSION: This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.

The Microstructure and Mechanical Properties of Si3N4f/BN/SiBCN Microcomposites Fabricated by the PIP Process.

SiBCN ceramics based on SiC, BN and Si3N4 structures have good comprehensive properties such as high-temperature resistance, oxidation resistance, creep resistance and long life, which makes it one of the very promising ceramic material systems in military and aerospace fields, etc. In this study, SiBCN ceramics, as well as Si3N4f/BN/SiBCN microcomposites, were prepared by a polymer infiltration pyrolysis method using PBSZ as the polymer precursor. The PBSZ was completely ceramized by pyrolysis at 900 °C. The weight loss and elemental bonding forms of the products after the pyrolysis of the precursors hardly changed from 600 °C to 900 °C. After pyrolysis at 600 °C for 4 h and using the BN coating obtained from twice deposition as the interfacial phase, a more desirable weak interface of fiber/matrix with a binding strength of 21.96 ± 2.01 MPa can be obtained. Si3N4f/BN/SiBCN ceramic matrix microcomposites prepared under the same pyrolysis conditions have a relatively good tensile strength of 111.10 MPa while retaining a weak interface between the fibers and the matrix. The results of the study provide more theoretical and methodological support for the application of new composite structural ceramic material systems.

Ammonium Ion-Pre-Intercalated MnO2 on Carbon Cloth for High-Energy Density Asymmetric Supercapacitors.

With the continuous development of green energy, society is increasingly demanding advanced energy storage devices. Manganese-based asymmetric supercapacitors (ASCs) can deliver high energy density while possessing high power density. However, the structural instability hampers the wider application of manganese dioxide in ASCs. A novel MnO2-based electrode material was designed in this study. We synthesized a MnO2/carbon cloth electrode, CC@NMO, with NH4+ ion pre-intercalation through a one-step hydrothermal method. The pre-intercalation of NH4+ stabilizes the MnO2 interlayer structure, expanding the electrode stable working potential window to 0-1.1 V and achieving a remarkable mass specific capacitance of 181.4 F g-1. Furthermore, the ASC device fabricated using the CC@NMO electrode and activated carbon electrode exhibits excellent electrochemical properties. The CC@NMO//AC achieves a high energy density of 63.49 Wh kg-1 and a power density of 949.8 W kg-1. Even after cycling 10,000 times at 10 A g-1, the device retains 81.2% of its capacitance. This work sheds new light on manganese dioxide-based asymmetric supercapacitors and represents a significant contribution for future research on them.