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At least 703 records · Page 39Linked to original sources
PubMed1991

Cryptococcosis in beige mice: the effect of congenital defects in innate immunity on susceptibility.

The influence of the beige (bg/bg) mutation on susceptibility to cryptococcosis was assessed by mortality, quantitative culturing, and histopathology of infected organs from bg/bg and bg/+ mice. Immunodeficient bg/bg mice were more susceptible to systemic cryptococcosis than immunocompetent bg/+ mice. Differences in susceptibility of bg/bg and bg/+ mice corresponded with temporal differences in histopathology. In contrast to bg/+ mice, inflammatory responses in infected tissues from bg/bg mice contained less cellular infiltrate, proportionally more polymorphonuclear neutrophils than monocytes and macrophages, and delays in the switch from acute to chronic inflammation. Enhanced growth of Cryptococcus neoformans in the internal organs of bg/bg mice was coincident with delayed inflammatory responses. These quantitative culture and histopathology studies suggest that the defects associated with monocytes and macrophages and polymorphonuclear neutrophils resulted in altered in vivo inflammatory responses and contributed to the enhanced susceptibility of beige mice to C. neoformans.

Animals↗
PubMed1976

Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.

An infant suffering from metabolic acidosis attributable to hyperlactatemai (6.1 mmol/liter) accompanied by hyperalaninemia (1 mmol/liter) and hyperserinemia (0.6 mmol/liter) is described. The urinary excretion of lactate and pyruvate was greatly elevated; the lactate to pyruvate ratio was normal. The urine showed low levels of citrate, isocitrate, and cis-aconitate, and low or normal levels of alpha-oxoglutarate, succinate, malate, and methylmalonate. Aspartate was slightly elevated in serum and urine, indicating a corresponding increase if its alpha-ketoacid oxaloacetatae. These patterns of organic acids and amino acids suggested an in vivo defect in the oxidation of pyruvate. Fibroblasts cultured from skin biopsy from the patient metabolized radioactive pyruvate (final concentration 0.04-2 mmol/liter) to CO2 at rates from 5 to 17% of that of fibroblasts from normal control subjects. Enzyme studies with fibroblast sonicates revealed a severe deficiency of the pyruvate dehydrogenase complex (about 8% of normal), and this error was localized to the first unit of the complex, i.e., the pyruvate dehydrogenase (about 4% of normal). Fibroblasts from both parents metabolized pyruvate to CO2 at a slightly reduced rate, suggesting parental heterozygosity.

Acidosis↗
PubMed2003

Congenital defect of maxillary primary central incisor associated with exposed pulp and gingival [fibrosis]: case report.

This report describes a rare case of hypoplastic primary incisor in which the pulp was exposed at the crown portion and covered by the gingiva in a 1-year-11-month-old boy. The patient was referred to us due to swelling of his labial cervical gingiva of the maxillary right primary central incisor, and on examination, extended to the hypoplastic labial surface. Radiographically, there was a round radiolucent area on the crown including the edge. Surgical removal of the swollen gingiva revealed a large defect of the labial aspect of the incisor, showing pulpal tissue inside. The tooth was treated by vital pulpotomy. Histopathologically, the removed gingival tissue contained many pieces of dysplastic tooth elements in the lamina propria portion which should have been connected to the exposed pulp. The findings suggested that pulp exposure resulted from focal dental hypoplasia not from resorption of the tooth.

Dental Enamel Hypoplasia↗