Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bronchopulmonary dysplasia of preterm infants has a multifactorial etiology. Pulmonary immaturity, oxygen toxicity, formation of oxygen radicals and mechanical lung trauma as well as additional factors (pulmonary hyperhydration, infection a.o.) may contribute to pulmonary damage. A pulmonary inflammatory reaction is thought to play a central role in the pathogenesis of chronic lung disease. It is characterized by the presence of inflammatory cells and various inflammatory mediators including proteases, chemoattractants, cytokines, leukotrienes and others. Due to the immaturity of several protective systems (antiproteases, antioxidants, surfactant system) the inflammatory response seems to be aggravated. Moreover, the magnitude and persistence of inflammation may eventually lead to pulmonary fibrosis.
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PMID:[Pathogenesis of bronchopulmonary dysplasia]. 852 53

The pale ear (ep) mouse strain is a model for the Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder causing pigmentary dilution, visual disturbances, bleeding diatheses, pulmonary fibrosis, and granulomatous colitis. The ep mice have a coat color very similar to the black-colored parental strain, C57BL/6. However, the ears and tails of ep mice are significantly hypopigmented compared with the control animals, suggesting that the gene mutation in ep mice reveals a differential regulation of melanocyte function in dorsal back skin melanocytes versus tail or ear skin. In this study, we analyzed the mutant phenotype in detail and determined that in the tail, the defective gene causes delayed onset of interfollicular epidermal melanocyte tyrosinase activity, decreased numbers of melanocytes in the interfollicular epidermis and dermis, and severe immaturity of tail epidermal melanosomes, findings not observed in dorsal back follicular melanocytes. These results highlight differences between follicular and interfollicular melanocyte biology and demonstrate that defects in the ep protein not only affect melanosome biogenesis, but also play a developmental role in determining interfollicular epidermal and dermal melanocyte function. The implications of these findings for the mechanisms governing physiologic variation in human pigmentation and for the pathogenesis of vitiligo are discussed.
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PMID:Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. 1706 83

Chronic lung disease of prematurity (CLD) is commonly considered to be a consequence of assisted ventilation. However, prior to the description in 1967 of bronchopulmonary dysplasia (BPD), following ventilator therapy for respiratory distress syndrome, Wilson-Mikity syndrome (WMS) had been described in very preterm infants on minimal oxygen supplementation. In the 1970s and 1980s, many infants treated with assisted ventilation required prolonged mechanical ventilation after developing radiographic features of coarse infiltrates, severe hyperinflation, and microcystic changes, associated with hypercarbemia and the need for increased inspired oxygen concentrations. Some infants died and showed evidence of pulmonary fibrosis, obstructive bronchiolitis, and dysplastic change. The role of supplemental oxygen, positive pressure ventilation, and the immaturity of the lung have long been considered important in the etiology of CLD/BPD. More recently, the role of inflammation (particularly antenatal exposure to cytokines) and individual susceptibility (genetic predisposition) have assumed greater etiologic importance. The historical setting into which corticosteroid treatment for BPD was introduced is also discussed. After the licensing of exogenous surfactant to treat RDS in the early 1990s and more widespread use of prenatal corticosteroids in the mid-1990s, severe BPD became an unusual event. Gradually, the diagnosis of CLD, still often referred to as BPD, was based on an oxygen requirement at 36 weeks postmenstrual age. However, it is not clear that this 'new BPD' is substantially different from WMS. It is difficult to make prognostications about long-term lung function of these infants based on oxygen 'requirement' at 36 weeks, since supplemental oxygen is frequently used unnecessarily.
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PMID:Chronic lung disease of prematurity: a short history. 1969 62