Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.

The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. Aminoacyl t-RNA synthetase proteins are fundamentally known as the first enzymes of translation, catalysing the conjugation of amino acids to cognate tRNAs for protein synthesis.

Association of blood pressure with estimates of 24-h urinary sodium and potassium excretion from repeated single-spot urine samples.

While the association between 24-h urinary sodium and potassium excretion with blood pressure is well established, the relationships of these ions to spot urine measurements are unclear. Our purpose is to assess the association between blood pressure and the estimated 24-h sodium and potassium excretion from repeated single-spot urine samples. Spot urine and blood pressure were collected annually during a 5-year period from 4360 Japanese workers with ages ranging from 19 to 55 years.

Human airway trypsin-like protease (HAT) is released into saliva.

We first discovered human airway trypsin-like protease (HAT) in human mucoid sputum. Precursor HAT (47 kDa), a cell surface type Ⅱ transmembrane serine protease, is proteolyzed to mature HAT (27 kDa). Hitherto, HAT has not been detected in other biological fluids except for human sputum.

[A case of axial spondyloarthritis acute onset as opportunity tonsil foci infection].

  A 49-year-old female with a chief complaints of arthralgia, and a medical history is Hashimoto's disease presented to us. She had been previously treated for Sjögren's syndrome at our hospital. She had anterior chest and polyarticular pain.

Guiding principles of sublingual immunotherapy for allergic rhinitis in Japanese patients.

Objective: Sublingual immunotherapy (SLIT) appears to offer practical advantages for the treatment of allergic rhinitis (AR). Based on a review of the scientific literature, we present recommendations as guiding principles to administer SLIT safely.

Methods: Clinical questions concerning SLIT were prepared.

The impact of preoperative identification of the Adamkiewicz artery on descending and thoracoabdominal aortic repair.

Objective: To investigate the impact of preoperative identification of the Adamkiewicz artery (AKA) on prevention of spinal cord injury (SCI) through the multicenter Japanese Study of Spinal Cord Protection in Descending and Thoracoabdominal Aortic Repair (JASPAR) registry.

Methods: Between January 2000 and October 2011, 2435 descending/thoracoabdominal aortic repairs were performed, including 1998 elective repairs and 437 urgent repairs, in 14 major centers in Japan. The mean patient age was 67 ± 13 years, and 74.

Guiding principles of subcutaneous immunotherapy for allergic rhinitis in Japan.

Objective: In anticipation of the development of guidelines for antigen-specific subcutaneous immunotherapy (SCIT), we present recommendations that can serve as guiding principles based on a review of the scientific literature.

Methods: Clinical questions (CQs) concerning SCIT were prepared. Literature searches for publications between January 1990 and February 2011 were performed in PubMed, the Cochrane Library, and Japana Centra Revuo Medicina Web version 4.

[The relationship between ambulatory blood pressure variation and symptoms of depression and sleep disturbance in community-dwelling elderly persons with independent activities of daily living].

Objective: To clarify the relationship between ambulatory blood pressure variation and symptoms of depression and sleep disturbance in community-dwelling elderly persons with independent activities of daily living.

Methods: The subjects were 41 volunteers in a health education class for the elderly in a rural community. We carried out: (1) an interview about symptoms of depression using the Geriatric Depression Scale (GDS), competence of daily living, subjective daily sleep complaints and past history of disease,; (2) ambulatory blood pressure measurements over 24 hours with a portable device,; (3) sleep-awake judgment by wrist actigrams,; and (4) instructions for self-records of his/her life activities.