Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma, aortic calcification, and skeletal abnormalities. Unlike subjects with classic SMS, affected individuals showed normal dentition, suggesting atypical SMS. To identify genetic causes of the disease, we performed exome sequencing in this family and identified a variant (c.1118A>C [p.Glu373Ala]) of DDX58, whose protein product is also known as RIG-I. Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. Cys268 and Glu373 residues of DDX58 belong to ATP-binding motifs I and II, respectively, and these residues are predicted to be located closer to the ADP and RNA molecules than other nonpathogenic missense variants by protein structure analysis. Functional assays revealed that DDX58 alterations confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression. In addition, when we transduced primary human trabecular meshwork cells with c.803G>T (p.Cys268Phe) and c.1118A>C (p.Glu373Ala) mutants, cytopathic effects and a significant decrease in cell number were observed. Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.

Transition metal dichalcogenides (TMDs) layers of molecular thickness, in particular molybdenum disulfide (MoS2), become increasingly important as active elements for mechanically flexible/stretchable electronics owing to their relatively high carrier mobility, wide bandgap, and mechanical flexibility. Although the superior electronic properties of TMD transistors are usually integrated into rigid silicon wafers or glass substrates, the achievement of similar device performance on flexible substrates remains quite a challenge. The present work successfully addresses this challenge by a novel process architecture consisting of a solution‐based polyimide (PI) flexible substrate in which laser‐welded silver nanowires are embedded, a hybrid organic/inorganic gate insulator, and multilayers of MoS2. Transistors fabricated according to this process scheme have decent properties: a field‐effect‐mobility as high as 141 cm2 V−1 s−1 and an Ion/Ioff ratio as high as 5 × 105. Furthermore, no apparent degradation in the device properties is observed under systematic cyclic bending tests with bending radii of 10 and 5 mm. Overall electrical and mechanical results provide potentially important applications in the fabrication of versatile areas of flexible integrated circuitry.

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Thin-film transistors (TFTs) based on multilayer molybdenum diselenide (MoSe ) synthesized by modified atmospheric pressure chemical vapor deposition (APCVD) exhibit outstanding photoresponsivity (103.1 A W ), while it is generally believed that optical response of multilayer transition metal dichalcogenides (TMDs) is significantly limited due to their indirect bandgap and inefficient photoexcitation process. Here, the fundamental origin of such a high photoresponsivity in the synthesized multilayer MoSe TFTs is sought. A unique structural characteristic of the APCVD-grown MoSe is observed, in which interstitial Mo atoms exist between basal planes, unlike usual 2H phase TMDs. Density functional theory calculations and photoinduced transfer characteristics reveal that such interstitial Mo atoms form photoreactive electronic states in the bandgap. Models indicate that huge photoamplification is attributed to trapped holes in subgap states, resulting in a significant photovoltaic effect. In this study, the fundamental origin of high responsivity with synthetic MoSe phototransistors is identified, suggesting a novel route to high-performance, multifunctional 2D material devices for future wearable sensor applications.

The L'DISQ device is specifically designed to remove herniated disc using a wand that can be navigated into a disc protrusion or extrusion. Following decompression, we measured clinically significant pain improvement and decreased disability for patients with both radicular and axial pain caused by protruded and extruded discs.