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)

This retrospective, multicenter analysis was conducted on all adolescents admitted to three pediatric hospitals in Montreal, Quebec, Canada, over a 10-year period (1981-1991) with a primary diagnosis of dysfunctional uterine bleeding. The purpose was to assess the frequency of underlying medical disorders and their response to medical therapy. Sixty-one patient charts were identified. Newly diagnosed hematologic abnormalities were found in two patients (one with immune thrombocytopenic purpura and one with acute promyelocytic leukemia). Furthermore, all patients who were evaluated had normal factor VIII levels, partial thromboplastin times and prothrombin times. Twenty-nine percent of the patients had a past history of a significant medical problem. The mean age at presentation was 13.8 +/- 2.1 (SD) years. More than 50% of the patients had a history of irregular bleeding. Most patients (93.4%) responded to medical management. Only five (8.2%) required dilation and curettage. The history of irregular cycles, the early presentation after menarche, the infrequency of hematologic problems but high frequency of significant medical problems led us to conclude that the etiology of dysfunctional uterine bleeding in adolescence is often related to persistent immaturity of the hypothalamic-pituitary-ovarian axis. Medical therapy is highly effective in controlling such bleeding. Dilation and curettage is rarely required.
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PMID:Dysfunctional uterine bleeding in adolescents. 783 20

Two female and three male patients with acquired "tufted angioma" are presented. The age of these patients ranged from 10 to 62 years. Two lesions were sited in the head and neck region, two in the upper extremities, and one on the trunk. Clinically, the angiomatous lesions appeared as elevated plaques, flat lesions with papular and macular areas, or erythematous plaques with small nodules. In four cases a biopsy was done, and in one case the tumour was excised. Histologically, the neoplasms were characterized by irregularly distributed vascular tufts in the dermis, and, in one case, in the upper subcutis. The vascular tufts were composed of plump endothelial cells and spindle-shaped pericytes surrounded by crescent-shaped vascular spaces. The positive staining for CD 31 and for CD 34 and alpha-smooth muscle actin, and the negative staining of endothelial cells for factor VIII underline both the existence of two cellular components in tufted angioma and the immaturity of endothelial cells. Evidence of regular mitotic figures in two cases and increased proliferative activity in three out of four cases tested, emphasize the neoplastic nature of slowly growing tufted angioma. Benign tufted angioma is a distinct entity in the spectrum of capillary haemangiomas and must be distinguished from other vascular neoplasms.
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PMID:[Tufted hemangioma. Clinicopathologic and immunohistologic analysis of 5 cases of a distinct entity within the spectrum of capillary hemangioma]. 870 83

Because increased flow and shear stress upregulate endothelial (e) nitric oxide synthase (NOS) in adult endothelial cells in vivo and in vitro, we hypothesized that decreased pulmonary blood flow would decrease eNOS content in the late-gestation ovine fetus. To investigate the effects of decreased blood flow and the potential role of altered eNOS content in lung hypoplasia, we studied an animal model of lung hypoplasia after left pulmonary artery (LPA) ligation in nine fetal lambs (114-124 days gestation; term = 147 days). After at least 14 days, animals were killed, and lungs were harvested for histology, immunostaining, Western blot analysis for eNOS protein content, and biochemical assays of NOS activity. LPA ligation markedly reduced left lung size. Histology demonstrated loose connective tissue and airway immaturity in the left lungs. eNOS immunostaining demonstrated equal staining in the left pulmonary vessels compared with the right. Solitary endothelial cells staining for eNOS and factor VIII-related antigen were observed throughout the mesenchyme of left, but not right, lungs. eNOS protein content and activity were similar in left and right lungs. We conclude that, despite the absence of pulmonary blood flow and marked lung hypoplasia, eNOS content and NOS activity were not reduced after LPA ligation in the late fetal lung. We speculate that low pulmonary blood flow does not downregulate fetal pulmonary vascular eNOS expression and that other factors, such as paracrine or autocrine stimuli, may account for the persistence of eNOS in the developing lung circulation.
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PMID:Persistent eNOS in lung hypoplasia caused by left pulmonary artery ligation in the ovine fetus. 917 63

Neonatal gene therapy is a promising strategy for treating a number of congenital diseases diagnosed shortly after birth as expression of therapeutic proteins during postnatal life may limit the pathologic consequences and result in a potential "cure." Hemophilia A is often complicated by the development of antibodies to recombinant protein resulting in treatment failure. Neonatal administration of vectors may avoid inhibitory antibody formation to factor VIII (FVIII) by taking advantage of immune immaturity. A helper-dependent adenoviral vector expressing human factor VIII was administered i.v. to neonatal hemophilia A knockout mice. Three days later, mice produced high levels of FVIII. Levels declined rapidly with animal growth to 5 wk of age with stable factor VIII expression thereafter to >1 y of age. Decline in factor VIII expression was not related to cell-mediated or humoral responses with lack of development of antibodies to capsid or human factor VIII proteins. Subsequent readministration and augmentation of expression was possible as operational tolerance was established to factor VIII without development of inhibitors; however, protective immunity to adenovirus remained.
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PMID:Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. 2124 23