Publications by authors named "J Kagawa"
Current status of surviving patients with arginase 1 deficiency in Japan.
Mol Genet Metab Rep
December 2021
Article Synopsis
- * A recent study from 2018-2021 investigated five patients with ARG1 deficiency, revealing challenges in early diagnosis due to variability in symptoms and onset times among patients.
- * The study emphasizes the importance of early detection and intervention for better neurodevelopmental outcomes, pointing to liver transplantation as an effective treatment before neurological symptoms manifest.
Pseudohypoaldosteronism type II (PHA II) is inherited in an autosomal dominant manner and is characterized by hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. The enhancement of with-no-lysine kinase (WNK) functions is correlated to the pathogenesis of the condition. Cullin 3 (CUL3) forms an E3 ubiquitin ligase complex, and it can ubiquitinate WNK.
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- * Recent research shows that DS-ALL is diverse, containing multiple subtypes, although it shares some genetic features with non-DS-ALL; however, the distribution of these subtypes differs notably between the two groups.
- * One particular subtype, Philadelphia chromosome-like, is more common in DS-ALL, and hypermethylation of the RUNX1 gene on chromosome 21 may contribute to the higher occurrence of B-cell precursor ALL in children with DS.
The kisspeptin is a neuropeptide to play physiological roles in regulating gonadotropin-releasing hormone secretion in the hypothalamus. In human plasma, the kisspeptin concentration is measured, but gonadotropin-releasing hormone is not. This study aims to understand the physiological roles of the circulating kisspeptin in lactational amenorrhea in humans because prolactin reduces the kisspeptin expression and luteinizing hormone secretion resulting in anovulations in rodent brains.
View Article and Find Full Text PDFBackground: Resistance to intravenous immunoglobulin (IVIG) therapy is a risk factor for coronary lesions in patients with Kawasaki disease (KD). Risk-adjusted initial therapy may improve coronary outcome in KD, but identification of high risk patients remains a challenge. This study aimed to develop a new risk assessment tool for IVIG resistance using advanced statistical techniques.
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