An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.

New Fresnel lens loupe for nystagmus observation suitable for use by medical staff in emergency departments.

Background: Reduction of spontaneous nystagmus by fixation, a characteristic feature of peripheral nystagmus, is important for differentiating between peripheral and central vestibular disorders. In the emergency room, Frenzel goggles are recommended to observe spontaneous nystagmus for the differential diagnosis of acute vestibular syndrome. We developed a portable loupe with a Fresnel lens to observe nystagmus.

Development of Dembo-PCR for cattle in accordance with Japanese livestock quarantine guidelines.

Detection of microorganisms from bovine using real-time PCR (Dembo-PCR) is a comprehensive detection technique that was developed to detect pathogens causing bovine diseases. In Japan, the definitive tests for monitored infectious diseases, which are defined by law, are carried out at government agencies. On the other hand, the existence of pathogens other than monitored infectious diseases are not well understood.