Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over a 3-month period, four patients presented to Salisbury District Hospital with symptoms of oesophageal foreign body impaction and dysphagia for solids. In their first few days of life all four patients had undergone successful operations for the repair of congenital oesophageal atresia with or without a tracheo-oesophageal fistula. Despite our efforts, the previous medical records were unavailable to ascertain the exact form of surgery each patient had received. All four patients had flexible oesophagogastroscopy by one of the authors (RAF). Three were found to have a food bolus obstructing the oesophagus, lodged above or within a ring stricture at the presumed level of their surgical repair and oesophageal anastomosis. The fourth patient had a ring stricture only; it was assumed that the food bolus had become disimpacted. All four patients had successful dilatations using thermoplastic oesophageal dilators. After the procedure all the patients were symptom free and remain so at varying lengths of follow-up. Case studies of these patients are presented below along with a review of the literature concerning the relatively rare presentation of dysphagia in adults who had previously undergone neonatal surgery for congenital oesophageal anomalies.
 ...
PMID:Foreign body impaction arising in adulthood: a result of neonatal repair of tracheo-oesophageal fistula and oesophageal atresia. 903 3

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the digestive tract. In up to 90% of cases, they are characterized by activating mutations in the KIT or the PDGFRA gene. GIST represent a paradigm for successful targeted treatment with tyrosine kinase inhibitors (TKI). Since the approval of the TKI imatinib in 2002 the survival of patients with metastatic GIST has tripled. The next logical step was the concept of using imatinib in an adjuvant approach, which was recently shown to increase overall survival significantly. In both settings, the mutational status has high predictive implications. In detail, GIST with KIT exon 11 mutations show the best response rates with partial remission rates of up to 80%. In KIT exon 9 mutations, a doubled daily dose of 800 mg imatinib is now standard. The PDGFRA exon 18 mutation D842V has been shown to lead to primary resistance. The treatment strategy in GIST is driven by their molecular characterisation. Further research has increased our knowledge on resistance mechanisms in solid tumors against TKI. The number of patients with secondary resistance due to acquired KIT mutations is increasing with treatment duration. Strategies to address this situation are the introduction of novel pathway inhibitors targeting different levels of signal transduction pathways, such as the mTOR/Akt pathway, the RAS/RAF pathway, histone deacetylation, among others. Among the GIST without mutations in the common hot spot regions of KIT and PDGFRA, the so-called wildtype GIST, further genomic subgroups have been identified. One such subgroup carries inactivating germline mutations in the genes encoding succinate dehydrogenase B, C, or D. They are associated with the occurrence of paragangliomas, so-called Carney-Stratakis syndrome. Most frequently, these GIST are located in the stomach, showing an epithelioid phenotype and a multinodular growth pattern. They preferentially occur in young females and often show lymph node metastases, the latter being very unusual in sporadic GIST. In sporadic Carney's triad additional pulmonary chondromas are observed and there are no SDH mutations. Another small subgroup of sporadic GIST present with BRAF mutations as an alternative genomic event. Finally, very rare kindreds with germline mutations in either KIT or PDGFRA have been described who develop multiple GIST and depending on the mutational subtype mastocytosis, hyperpigmentation and/or dysphagia. In summary, the molecular characterisation of GIST has revolutionized their treatment due to increasing knowledge about the high relevance of predictive molecular typing in solid tumors.
 ...
PMID:[Translational research and diagnosis in GIST]. 2296 35