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BackgroundGermline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding on these procedures. The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of uncertain significance (VUS) and with ClinVar conflicting interpretations and continues to update these specifications.MethodsCDH1 variant classification specifications were modified based on updated genetic testing clinical criteria, new recommendations from ClinGen and expert knowledge from ongoing CDH1 variant curations. The CDH1 VCEP reviewed 273 variants using updated CDH1 specifications and incorporated published and unpublished data provided by diagnostic laboratories.ResultsUpdated CDH1-specific interpretation guidelines include 11 major modifications since the initial specifications from 2018. Using the refined guidelines, 97% (36 of 37) of variants with ClinVar conflicting interpretations were resolved to benign, likely benign, likely pathogenic or pathogenic, and 35% (15 of 43) of VUS were resolved to benign or likely benign. Overall, 88% (239 of 273) of curated variants had non-VUS classifications. To date, variants classified as pathogenic are either nonsense, frameshift, splicing, or affecting the translation initiation codon, and the only missense variants classified as pathogenic or likely pathogenic have been shown to affect splicing.ConclusionsThe development and evolution of CDH1-specific criteria by the expert panel resulted in decreased uncertain and conflicting interpretations of variants in this clinically actionable gene, which can ultimately lead to more effective clinical management recommendations.

Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement in the NUTM1 gene. Many fusion partners occur, and NSD3 is NUT carcinoma's third most common partner. Herein, we present a case of a 26-year-old man with an NSD3::NUTM1 fusion sarcoma. The patient presented at the age of 13 months with a scalp nodule. Over the next 24 years, he experienced five local recurrences and ultimately expired of a rapidly progressive recurrence. His treatment included surgical resections, radiation, and various chemotherapies. Deceptively, the clinical presentation and histopathology aligned with a malignant peripheral nerve sheath tumor, a diagnosis rendered at initial resection with concurrence by a national soft tissue tumor expert. The patient's exceptionally long survival could be due to NSD3 as the fusion partner, aided by the initial small tumor size and young patient age. Thus, this case expands NUT fusion sarcomas' histologic and immunohistochemical profile to include mimicking a malignant peripheral nerve sheath tumor (MPNST). Additionally, it indicates that the NSD3::NUTM1 fusion can drive sarcoma genesis. [ABSTRACT FROM AUTHOR]

The current electromagnetic environment exhibits a growing demand for efficient microwave-absorbing (MA) materials, posing a challenge in developing multifunctional and efficient wave-absorbing materials, which has become a prominent research focus. MXene nanomaterials stand out among 2D nanomaterials and have attracted extensive research attention due to their distinctive layered structure, large specific surface area, abundant surface defects, and excellent chemical and physical properties. Nevertheless, the poor impedance matching of MXene materials poses challenges in meeting the fundamental requirements for efficient MA materials. To enhance the MA efficacy and application potential of MXene, this paper reviews optimization strategies for MXene MA composites in both material preparation and structural design. Regarding material preparation, the antioxidant strategy emphasizes the oxidation stability of MXenes, elucidates the advancements in oxidation research, proposes potential measures to mitigate the spontaneous oxidation of MXenes, and explores optimization techniques for the monolayer/multilayer MXene process. In terms of 3D structure, MXene serves as a backbone and an additive to fabricate diverse geometrical frameworks, including core–shell, porous, layered, and foamy nano-flower structures, aiming to optimize electromagnetic performance. Furthermore, this paper presents the prospects for developing MXene-based MA materials. [ABSTRACT FROM AUTHOR]

The current electromagnetic environment exhibits a growing demand for efficient microwave‐absorbing materials. Developing multifunctional and efficient wave‐absorbing materials poses a challenging research hotspot. Numerous researchers have dedicated their efforts to developing high‐performance broadband wave‐absorbing materials with outstanding mechanical properties. Utilizing carbon fiber‐reinforced polymer composites (CFRP) for electromagnetic wave absorption (EMA) is a rapidly evolving field. Carbon fiber‐based EMA composites are characterized by high dielectric loss, high thermal stability, and low density, enabling them to achieve EMA properties while meeting mechanical property requirements. This review summarizes the principles of electromagnetic EMA, focusing on dielectric and magnetic losses, the preparation methods of CFRP, such as organic polymer synthesis, chemical vapor deposition, and vacuum forming processes, as well as their underlying principles. It also evaluates the research progress on the EMA properties of CFRP composites, particularly highlighting CFRP matrix modification and coating treatment. Finally, the challenges of CFRP EMA and potential future development directions are discussed. This analysis offers multiple recommendations for future researchers. [ABSTRACT FROM AUTHOR]

Disodium phosphate dodecahydrate was hybrid with n-octadecane as the phase change material (PCM) by reversed-phase emulsification. The cellulose sponge obtained based on cellulose nanocrystals was used as the support material to fabricate a shape-stable composite phase change material (CPCM) through impregnation. It was laminated with cotton fabric to obtain a sandwich structure thermal insulation fabric. An infrared spectrometer, scanning electron microscope, differential thermal scanning calorimeter, and other equipment were used to characterize the morphology, chemical groups, and latent heat properties of CPCMs and thermal insulation fabrics. The results displayed that the cellulose sponge had a porosity of 99.03%, a density of 0.012 g/cm3, and could withstand 1900 times its weight. When the mass proportion of PCM in the composite system was 67.5%, its latent heat energy was 84.44 J/g, which also revealed optimal shape stability. Compared to the original fabric, the thermal insulation efficiency of the sandwich structured fabric was increased by 17.7%∼18.2%, and the photothermal conversion rate reached 25.88%, with good application performance. [ABSTRACT FROM AUTHOR]

This study fabricated flexible radar-absorbing knitted compound materials by weft knitting and blending ferromagnetic nickel micron-fibers and cotton fiber into structures with a concave–convex surface, including rhombic, mat, wavy, and leno stitches. The electromagnetic wave-absorbing capability and mechanical properties of the flexible radar-absorbing knitted compound materials were evaluated. The results showed that the rhombic, mat, and wavy stitches displayed high mechanical properties with high bursting strength and there were no significant differences among them. The rhombic stitch flexible radar-absorbing knitted compound material with a ferromagnetic nickel micron-fiber content of 14% had a maximum bandwidth of 13 GHz and achieved a minimum reflectance of −20 dB at 7 GHz, which was 150% that of mat fabric, and 200% that of wavy fabric and leno fabric. This was ascribed to the fact that the concave–convex surface with regular diamond-shaped block improved the dispersion of the electromagnetic wave, weakened the wave strength, and increased the interference. Therefore, the rhombic stitch flexible radar-absorbing knitted compound material was the most suitable for flexible radar-absorbing material in this study. The development of flexible radar-absorbing materials, by combining aerospace technology, military technology and textile technology, is important for the application in stealth of aircraft and weapons. [ABSTRACT FROM AUTHOR]