A.4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

Background: Mutations in the slow skeletal muscle troponin T (TNNT1) gene cause a congenital nemaline myopathy resulting in death from respiratory insufficiency in early infancy. We report on four French Canadians with a novel congenital TNNT1 myopathy. Methods: Patients underwent lower extremity and paraspinal MRI, quadriceps biopsy and genetic testing. TNNT1 expression in muscle was assessed by quantitative PCR and immunoblotting. Wild type or mutated TNNT1 mRNAs were co-injected with morpholinos in a zebrafish knockdown model to assess for rescue of the morphant phenotype. Results: Four patients shared a novel missense homozygous mutation in TNNT1. They developed from childhood slowly progressive limb-girdle weakness with spinal rigidity and contractures. They suffered from restrictive lung disease and recurrent episodes of rhabdomyolysis. Older patients remained ambulatory into their sixties. Lower extremity MRI showed symmetrical myopathic changes. Paraspinal MRI showed diffuse fibro-fatty involution. Biopsies showed multi-minicores. Nemaline rods were seen in half the patients. TNNT1 mRNA expression was similar in controls and patients, while levels of TNNT1 protein were reduced in patients. Wild type TNNT1 mRNA rescued the zebrafish morphants but mutant transcripts failed to do so. Conclusions: This study expands the spectrum of TNNT1-related myopathy to include a milder clinical phenotype caused by a functionally-confirmed novel mutation.

Pseudocnidae of ribbon worms (Nemertea): ultrastructure, maturation, and functional morphology

The fine structure of mature pseudocnidae of 32 species of nemerteans, representatives of 20 genera, six families, and two classes was investigated with scanning and transmission electron microscopy. Pseudocnidae are composed of four layers (cortex, medulla, precore layer, and core) in most species investigated, but the degree of development and position of each layer can vary between different species. The secretion products comprising immature pseudocnidae segregate into separate layers: a thin envelope, which subsequently separates into the cortex and medulla and an extensive internal layer. We distinguish two pseudocnida types: type I is characterized by a two-layered core and type II by a three-layered core. Type I pseudocnidae are present in archinemertean species, Carinoma mutabilis, and in all pilidiophoran species, except Heteronemertea sp. 5DS; type II pseudocnidae occur in all studied species of Tubulanidae and the basal Heteronemertea sp. 5DS. Based on the structure of the discharged pseudocnidae observed in eleven species of palaeonemerteans and in eight species of pilidiophorans, we distinguish three different mechanisms (1–3) of core extrusion/discharge with the following characteristics and distribution: (1) the outer core layer is everted simultaneously with the tube-like layer and occurs in type I pseudocnidae of most species; (2) the extruded core is formed by both eversion of the outer core layer and medullar layer, and occurs in type I pseudocnidae of Micrura cf. bella; (3) the eversion of the outer core layer begins together with the core rod and core rod lamina and occurs in type II pseudocnidae. Morpho-functional comparison with other extrusomes (cnidae, sagittocysts, rhabdtites, and paracnids) confirm that pseudocnidae are homologous structures that are unique to nemerteans.

Research on High-strength Flexible Insulation Rod of Ultra High Voltage Live Working

Insulation pull rods are commonly used tools and instruments in the replacement of insulators for live work. Traditional hard insulated pull rods are difficult to transport and assemble due to their large deflection, especially due to the long and heavy weight of insulated pull rods used in UHV live operations, the difficulties in the above links are more obvious. In view of the existing problems in the use of the existing insulated pull rods, by studying the overall processing type, the soft pull rod weaving process, the technology of tightly combining the core rod and the protective cover, the technology of connecting the core rod and the metal, etc., a new type suitable for live transmission lines has been developed. Large-tonnage soft insulated pull rod for operation. Effectively solve a series of problems caused by the large deflection of the hard insulated pull rod.

Research on Defect Detection Technology of Composite Insulator Sheath

The composite insulator sheath plays an important role in protecting the core rod and insulation. The thickness of the sheath must meet the corresponding standard requirements. During the insulator manufacturing process, the core rod decentration leads to uneven thickness of the sheath, which is easy to cause the risk of composite insulators premature failure during operation. The phased array detection technology can accurately detect the thickness of the sheath, so that defects such as uneven thickness of the sheath (decentration of the core rod) can be detected, and the thickness of the sheath at the end of the composite insulator can also be effectively detected. DR detection technology can effectively identify the interface between the mandrel and the sheath, but there is a risk of the sheath thickness distortion due to inappropriate transillumination parameters.

Ageing Tests of Samples of Glass-Epoxy Core Rods in Composite Insulators Subjected to High Direct Current (DC) Voltage in a Thermal Chamber

In this article, we presented the results of the tests performed on three sets of samples of glass-reinforced epoxy (GRE) core rods used in alternating current (AC) composite insulators with silicone rubber housing. The objective of this examination was to test the aging resistance of the rod material when exposed to direct current (DC) high voltage. We hypothesized that the long-term effects of the electrostatic field on the GRE core rod material would lead to a gradual degradation of its mechanical properties caused by ionic current flow. Further, we hypothesized that reducing the mechanical strength of the GRE core rod would lead to the breakage of the insulator. The first group of samples was used for reference. The samples from the second group were subjected to a temperature of about 50 °C for 6000 h. The third group of samples were aged by temperature and DC high voltage for the same time. The samples were examined using the 3-point bending test, micro-hardness measurement and microscopic analysis. No recordable degradation effects were found. Long-term temperature impact and, above all, the combined action of temperature and DC high voltage did not reduce the mechanical parameters or change the microstructure of the GRE material.