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  • 1
    Electronic Resource
    Electronic Resource
    The RET proto-oncogene: a challenge to our understanding of disease pathogenesis (1996)
    Springer
    Pediatric surgery international 12 (1996), S. 11-18 
    Details
    ISSN: 1437-9813
    Keywords: Key words RET ; RET proto-oncogene ; Hirschsprung’s disease ; Multiple endocrine neoplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  RET gene alterations as disease-causative mutations have been demonstrated in five different disease entities: Hirschsprung’s disease (HD); papillary thyroid carcinoma; and three types of inherited cancer syndromes: multiple endocrine neoplasia (MEN) 2A, MEN 2B, and familial medullary thyroid carcinoma. RET is expressed during embryogenesis in a temporally and spatially regulated manner, and plays an important role in the normal development of a variety of cell lineages, particularly in the establishment of the enteric nervous system. RET mutations observed in patients with HD are scattered along the gene without any hot spots, and possess a loss-of-function effect. RET mutations are detected with a higher incidence among familial cases (50%) than sporadic cases (15% – 20%), and are more closely associated with long-segment HD than short-segment disease. In contrast to HD mutations, missense mutations observed in MEN 2 syndromes occur at specific codons, and gene rearrangements are characteristic in papillary thyroid carcinoma. Both missense mutations and gene rearrangements act in a dominant fashion, and cause constitutive phosphorylation on the tyrosine of RET and highly enhance RET kinase activity, leading to transforming or oncogenic activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01194794
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Upregulated tumor necrosis factor-α gene expression in the hypoplastic lung in patients with congenital diaphragmatic hernia (1998)
    Springer
    Pediatric surgery international 14 (1998), S. 21-24 
    Details
    ISSN: 1437-9813
    Keywords: Key words Congenital diaphragmatic hernia  ; Pulmonary surfactant  ;  Tumor necrosis factor-α  ; Messenger RNA  ;  In-situ hybridization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent studies using animal models of congenital diaphragmatic hernia (CDH) have reported a reduction in both surfactant (SF) phospholipids and proteins in CDH lungs compared to controls, resulting in biophysical and physiologic impairment of SF function in the hypoplastic CDH lung. Furthermore, SF replacement has been shown to improve physiological function in CDH lungs. Tumor necrosis factor-α (TNF-α) is a polypeptide whose overproduction has been implicated in the pathogenesis of a number of pathological conditions, such as neonatal and adult respiratory distress syndrome. TNF-α has been shown to selectively inhibit the de-novo synthesis of SF phospholipid components in type II pneumocytes. It has been demonstrated that TNF-α is synthesized locally in lung and functions in an autocrine/paracrine mode. The aim of this study was to investigate TNF-α messenger RNA (mRNA) expression in hypoplastic CDH lung using in-situ hybridization histochemistry, to determine the molecular basis of the SF deficiency in the hypoplastic CDH lung. Lung-tissue samples were obtained at autopsy from 7 full-term newborns (age range: 1–21 days) with CDH and 4 stillborns with CDH. Normal lung tissue from eight infants with sudden infant death syndrome (age range: 5–30 days) acted as controls. In-situ hybridization was performed using TNF-α specific and digoxigenin-labeled oligonucleotide probe and visualized by nitroblue tetrazolium staining. In control lung tissue, mRNA expression of TNF-α was absent or weak in type II pneumocytes and alveolar macrophages. In contrast, mRNA expression of TNF-α was markedly increased in both type II pneumocytes and alveolar macrophages in hypoplastic CDH lung. Our findings of up-regulated TNF-α gene expression in CDH lung suggest that the SF deficiency observed in hypoplastic CDH lung may be the result of increased local production of TNF-α.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050427
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Comparison of the pulmonary vasculature in newborns and stillborns with congenital diaphragmatic hernia (1998)
    Springer
    Pediatric surgery international 14 (1998), S. 30-35 
    Details
    ISSN: 1437-9813
    Keywords: Key words Congenital diaphragmatic hernia  ; Persistent pulmonary hypertension  ;  Pulmonary artery  ; Pulmonary vein  ;  Stillborn  ;  Newborn
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of this study was to compare structural changes in the pulmonary vasculature in newborns with congenital diaphragmatic hernia (CDH) complicated by persistent pulmonary hypertension (PPH) and stillborns with CDH. Victorian blue van Gieson (VVG) staining and immunostaining with anti-alpha smooth-muscle actin (ASMA) was performed on lung tissue obtained at autopsy from 23 newborns with CDH complicated by PPH, 7 stillborns with CDH, and 11 age-matched controls with sudden infant death syndrome (SIDS). The degrees of adventitial and medial thickness and area were measured in pulmonary arteries with an external diameter (ED) of 〈75 μm, 75–100 μm, 100–150 μm, 150–250 μm, 250–500 μm, and 〉500 μm by image analyzer and compared statistically. The degrees of adventitial and medial thickness and area were measured in pulmonary veins with an ED of 〈100 μm, 100–200 μm, and 〉200 μm by image analyzer and compared statistically. In order to determine whether the characteristic structural changes were size-related, each was related to ED. There was a significant increase in adventitial thickness and area in arteries of all sizes in both newborns and stillborns with CDH compared to SIDS patients (P 〈 0.05). The degree of medial thickness in newborns and stillborns with CDH was significantly increased compared to SIDS patients (P 〈 0.01). The degree of medial area was significantly increased for arteries with ED less than 100 μm (P 〈 0.05) in newborns and stillborns with CDH compared with SIDS patients. There was a significant increase in adventitial thickness and area in veins of all sizes in newborns with CDH compared to stillborns with CDH and SIDS (P 〈 0.05). The degree of adventitial thickness and area of pulmonary veins were similar in stillborns with CDH and SIDS. There were no significant differences in medial thickness of veins between the three groups. The presence of abnormally thick-walled pulmonary arteries in stillborns with CDH suggests that the intrapulmonary arteries in CDH may become excessively muscularized during fetal life, becoming unable to adapt normally at birth. The absence of structural changes in pulmonary veins in stillborns with CDH suggests that the pulmonary venous changes observed in newborns with CDH complicated by PPH occur after birth as a result of increases in transvascular pressure or a response to release of peptide growth factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050429
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    TheRET proto-oncogene: A challenge to our understanding of disease pathogenesis (1996)
    Springer
    Pediatric surgery international 12 (1996), S. 11-18 
    Details
    ISSN: 1437-9813
    Keywords: RET ; RET proto-oncogene ; Hirschsprung's disease ; Multiple endocrine neoplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract RET gene alterations as disease-causative mutations have been demonstrated in five different disease entities: Hirschsprung's disease (HD); papillary thyroid carcinoma; and three types of inherited cancer syndromes: multiple endocrine neoplasia (MEN) 2A, MEN 213, and familial medullary thyroid carcinoma. RET is expressed during embryogenesis in a temporally and spatially regulated manner, and plays an important role in the normal development of a variety of cell lineages, particularly in the establishment of the enteric nervous system.RET mutations observed in patients with HD are scattered along the gene without any hot spots, and possess a loss-of-function effect.RET mutations are detected with a higher incidence among familial cases (50%) than sporadic cases (15%–20%), and are more closely associated with long-segment HD than short-segment disease. In contrast to HD mutations, missense mutations observed in MEN 2 syndromes occur at specific codons, and gene rearrangements are characteristic in papillary thyroid carcinoma. Both missense mutations and gene rearrangements act in a dominant fashion, and cause constitutive phosphorylation on the tyrosine of RET and highly enhance RET kinase activity, leading to transforming or oncogenic activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01194794
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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