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In lactic acid bacteria, pentoses are metabolized via the phosphoketolase pathway, which catalyzes the cleavage of D-xylulose-5-phosphate to equimolar amounts of glyceraldehyde 3-phosphate and acetylphosphate. Hence the yield coefficient of lactate from pentose does not exceed 1.0 mol/mol, while that of Lactococcus lactis IO-1(JCM7638) at high D-xylose(More)
Systemic lupus erythematosus (SLE) was observed in a 7-year-old boy with IgG2 and IgG4 subclass deficiencies who had been treated with immunoglobulin (100–200 mg/kg/4 weeks) since 2 years of age. The mother and the half-brother displayed the same deficiency. Serum IgG mainly consisted of IgG1 (98.9%) during the acute phase of SLE due to transient IgG3(More)
A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild cataract and short stature. Severe metabolic acidosis was caused by the impairment of bicarbonate reabsorption in the proximal tubules and alkali therapy improved her acidaemia. A homozygous G to A transition at nucleotide 1,678 in(More)
The relationship between class switch recombination (CSR) and somatic hypermutation has been unclear. By using human CD27(-) naive B cells, we investigated the somatic hypermutation and producibility of immunoglobulins (Igs) that occur after CSR. Although neither adult CD27(-) nor cord blood B cells, which showed the unmutated Ig V-region genes, produced(More)
Vertical eye deviation in hypoxic coma is considered to be rare. In contrast, we found that in a consecutive series of 50 postresuscitation comatose patients, 28 (56.0%) developed tonic upward or downward eye deviation. We suggest that both the upward and the downward deviations resulted from diffuse cerebrocerebellar damage sparing the brainstem. Upward(More)
Seven muscle biopsies from patients with the clinical characteristics of Marinesco-Sjögren syndrome (MSS) revealed myopathic changes of two types; muscle fiber necrosis followed by regeneration and focal myofibrillar degeneration inducing autophagocytosis with rimmed vacuole formation. In two young patients, massive muscle fiber necrosis with phagocytic(More)
We report on four cases of neonatal-onset hyperammonemia due to metabolic disorders treated with continuous hemodiafiltration (CHDF). CHDF accomplished prompt removal of serum ammonia under very stable circulation. To overcome the various difficulties of blood purification procedures to the neonate, we used: (1) a 7-Fr double lumen catheter from the(More)
The relationship of glomerular anionic sites to proteinuria was examined ultrastructurally in human nephrotic syndrome. The anionic sites were analysed morphometrically in patients with minimal-change nephrotic syndrome (MCNS, 11 patients) and in other glomerulonephritides complicated with nephrotic syndrome (4 patients) by the high-iron(More)
In 12 patients with the clinical characteristics of Marinesco-Sjögren syndrome including an autosomal recessive inheritance, congenital cataracts, mental retardation, cerebellar ataxia and progressive muscle weakness, the most common pathological finding was rimmed vacuole formation comprising from 0.1% to 10% of fibers in their muscle biopsy samples. The(More)
The molecular basis of common variable immunodeficiency (CVID) is unknown. To assess humoral immunity in CVID, we selected 24 patients with early or late onset of disease. X-linked agammaglobulinemia (XLA), X-linked hyper-IgM syndrome (XHIM), and non-XHIM were excluded based on clinical phenotype, assessment of the immune response, presence of Bruton's(More)