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        The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome

        Yanjiang Xu,Minhua Wang,Ling Huang,Jie Hu 대한피부과학회 2022 Annals of Dermatology Vol.34 No.5

        Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the clinicalmanifestations of some patients may overlap with Clouston syndrome. A 34-year-old femalepatient came to our department with a complain of “sparse hair, rough skin, photophobiaand deafness for more than 30 years.” We found that the proband and two other familymembers (57-year-old mother and 4-year-old daughter) had similar clinical manifestations:systemic hair loss, generalized skin hyperkeratosis, especially in the metacarpophalangealarea. Subungual hyperkeratosis, finger/toenail dystrophy, as well as photophobia andepiphora. According to the investigation, one of the family members also had similar clinicalmanifestations (grandfather of the proband) and he’s died. The other three members of thefamily had no hearing impairment, and all patients had typical nail dystrophy, hair loss andpalmoplantar hyperkeratosis, similar like as seen in Clouston syndrome, so we suspected todiagnose the case as Clouston syndrome. However, after genetic testing, it was found that theproband, his mother and daughter all had p.Asp50Asn heterozygous mutations in the GJB2gene, and no mutation was detected in GJB6. The modified diagnosis was KID syndrome.

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        Novel torsional spring with corrugated flexible units for series elastic actuators for cooperative robots

        Yanlin Chen,Yanjiang Huang,Kaibin Chen,Yeping Wang,Yanbin Wu 대한기계학회 2022 JOURNAL OF MECHANICAL SCIENCE AND TECHNOLOGY Vol.36 No.6

        Reasonable robot joint stiffness is necessary to guarantee the safety and control accuracy of cooperative robots. In this study, a novel flat torsional spring with corrugated flexible units for a series elastic actuator (SEA) was developed to meet the requirements of cooperative robots. The torsional spring can absorb impact energy. The spring was optimized through the design of experiment method, and its theoretical stiffness was verified through numerical calculation and finite element analysis. Compared with other existing flat torsional springs in the simulation, the proposed torsional spring showed reasonable torsional stiffness and high radial and axial stiffness, which could guarantee safety and control accuracy. The proposed torsional spring was also evaluated through real experiments. Simulation and experimental results revealed that the proposed torsional spring has a linear torque versus angle characteristic.

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