Biomedical subjects
Publications and source records attributed to S Kuwajima.
A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.
Diabetic nephropathy is currently the single largest cause of endstage renal disease (ESRD) in the United States and many European countries. The primary cause for the development of diabetic complications (including diabetic nephropathy) is persistent exposure to hyperglycemia, although genetic and other incompletely understood factors also play an important role. Although much consideration has been given to the pathogenesis and genetics of the disease itself, the mechanisms by which persistent exposure to hyperglycemia cause biochemical and metabolic alterations have been very sketchily understood. Recently, a growing body of evidence has linked the accumulation of the late products of glucose-protein interaction to a variety of chronic complications, including diabetic nephropathy. The formation of irreversible advanced glycosylation endproducts (AGEs) resulting from the spontaneous reaction between glucose and proteins occur most noticeably on long-lived structural proteins. Recent studies demonstrate that the pathogenesis of diabetic nephropathy is caused by the hyperglycemia-accelerated formation of AGEs. Also, reactive AGE peptides in the circulation are thought to play a role as a new version of so called middle molecule toxic substances. This evidence is opening a new window for our understanding of the pathogenesis of diabetic nephropathy.
An adult left adrenal neuroblastoma that extended into the left renal vein and inferior vena cava is reported. To the best of our knowledge, venous involvement of adrenal tumors has been reported in adrenal cortical carcinomas, but not in neuroblastomas. Differentiation of renal and adrenal tumors is also discussed.