A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.

Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.

A 4-year-old Boy Positive for Anti-rabphilin-3A Antibody and Diagnosed With Lymphocytic Infundibuloneurohypophysitis.

Lymphocytic infundibuloneurohypophysitis (LINH) is a disease with an etiology involving an autoimmune mechanism, characterized by lymphocytic inflammation of the posterior pituitary and infundibular stalk, resulting in arginine vasopressin deficiency. It is difficult to distinguish from pituitary neoplasm or infiltrative diseases, and biopsy is necessary for a definitive diagnosis, but this is highly invasive. In children, it is especially important to distinguish LINH from tumors such as germ cell tumors.

Unraveling the potential structure of a Parnassius butterfly in Japan: Insights into the expansion history.

The Japanese Archipelago consists of a series of isolated yet interconnected islands off the Eurasian continent. The linear topography of the archipelago presents a unique biogeographic context for the dispersal of organisms from the continent. In this study, mitochondrial DNA (mtDNA) and single-nucleotide polymorphism (SNP) variation were employed to elucidate the dispersal history of the Japanese clouded butterfly (Parnassius glacialis) across the Japanese Archipelago, including the northern island (Hokkaido), the main island (Honshu), and Shikoku Island.

Enhancing Railway Earthquake Early Warning Systems with a Low Computational Cost STA/LTA-Based S-Wave Detection Method.

To enhance real-time S-wave detection in the railway earthquake early warning (EEW) system, we improved the existing short-term average/long-term average (STA/LTA) algorithm. This enhancement focused on developing a more robust and computationally efficient method. Specifically, we introduced noise reflecting P-wave amplitude information before the P-wave to better distinguish between P- and S-waves.

Covalent Adaptable Networks from Polyacrylates Based on Oxime-Urethane Bond Exchange Reaction.

Covalent adaptable networks (CANs) are polymer networks cross-linked via dynamic covalent bonds that can proceed with bond exchange reactions upon applying external stimuli. In this report, a series of cross-linked polyacrylate films were fabricated by changing the combination of acrylate monomer and the amount of diacrylate cross-linker possessing oxime-urethane bonds as a kind of dynamic covalent bond to evaluate their rheological relaxation properties. Model analysis of the experimental relaxation curves of cross-linked polyacrylate films was conducted by assuming that they consist of two types of relaxation, one of which is related to the oxime-urethane bond exchange reaction, and another of which is associated with the melting of the aggregated cross-linker.