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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1996), S. 11-18 
    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
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1997), S. 95-100 
    ISSN: 1437-9813
    Keywords: Key words Congenital diaphragmatic hernia ; Fetal repair ; Persistent pulmonary hypertension ; Pulmonary hypoplasia ; Prognostic factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The first description diaphragmatic hernia appeared in 1575. In 1848, Bochdalek described congenital diaphragmatic hernia (CDH) occurring through a posterolateral defect. Successful surgical treatment of CDH in an infant was first performed in 1902, whereas the first neonate operated within 24 hours of life was reported in 1946. However, early surgery did not improve survival rates and the mortality was in the region of 50%. One reason for this was that more neonates underwent surgery who previously would have died without the repair of the CDH. Pulmonary hypoplasia and pulmonary hypertension were early recognised as important reasons for the high mortality rate. In recent years, an enormous effort has been made by research groups all over the world to describe the pathogenesis and pathophysiology of CDH, and apply these findings to clinical practice. Attempts have been made to define prognostic factors. Extracorporeal membrane oxygenation (ECMO) has produced encouraging results. Fetal surgical therapy remains an option in selected cases despite huge technical and ethical problems. Recently, several new therapeutic methods have been suggested, such as high frequency oscillatory ventilation, partial liquid ventilation, nitric oxide inhalation, surfactant therapy, and fetal tracheal ligation. However, more experience is required before the value of these approaches is clear. Despite these efforts, the mortality remains unacceptably high. The challenge for the future is to continue development of therapeutic approaches in order to improve survival of neonates with CDH.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1996), S. 11-18 
    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
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1997), S. 95-100 
    ISSN: 1437-9813
    Keywords: Congenital diaphragmatic hernia ; Fetal repair ; Persistent pulmonary hypertension ; Pulmonary hypoplasia ; Prognostic factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first description diaphragmatic hernia appeared in 1575. In 1848, Bochdalek described congenital diaphragmatic hernia (CDH) occurring through a posterolateral defect. Successful surgical treatment of CDH in an infant was first performed in 1902, whereas the first neonate operated within 24 hours of life was reported in 1946. However, early surgery did not improve survival rates and the mortality was in the region of 50%. One reason for this was that more neonates underwent surgery who previously would have died without the repair of the CDH. Pulmonary hypoplasia and pulmonary hypertension were early recognised as important reasons for the high mortality rate. In recent years, an enormous effort has been made by research groups all over the world to describe the pathogenesis and pathophysiology of CDH, and apply these findings to clinical practice. Attempts have been made to define prognostic factors. Extracorporeal membrane oxygenation (ECMO) has produced encouraging results. Fetal surgical therapy remains an option in selected cases despite huge technical and ethical problems. Recently, several new therapeutic methods have been suggested, such as high frequency oscillatory ventilation, partial liquid ventilation, nitric oxide inhalation, surfactant therapy, and fetal tracheal ligation. However, more experience is required before the value of these approaches is clear. Despite these efforts, the mortality remains unacceptably high. The challenge for the future is to continue development of therapeutic approaches in order to improve survival of neonates with CDH.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
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