Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hirschsprung's disease (HSCR) is characterized by the absence of autonomic ganglion cells in the terminal bowel and is a relatively common cause of intestinal obstruction in the newborn. The incidence of HSCR is estimated to be 1 in 5000 live births. Recently, the endothelin-B receptor (EDNRB) gene has been shown as a susceptibility gene for HSCR by the production of aganglionic colon in mice with a null mutation of this gene and by demonstrating a missense mutation in a large inbred kindred with a high incidence of HSCR (Mennonite pedigree). However, no further mutations have been demonstrated in other clinical cases. We analysed alterations of the EDNRB gene in 41 isolated patients of HSCR. Two novel mutations were detected: a G to A transition at nucleotide 824 and an insertion of T at nucleotide 878. Both mutations resulted in stop codons, predicted to produce a truncated and non-functional endothelin-B receptor. These observations indicate that dysfunction or loss of function of endothelin-B receptor may be involved in the aetiology of some isolated patients with HSCR.
 ...
PMID:Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. 885 58

Peritoneal adhesions are a major complication of healing following surgery or infection and can lead to conditions such as intestinal obstruction, infertility, and chronic pain. Mature adhesions are the result of aberrant peritoneal healing and historically have been thought to consist of non-functional scar tissue. The aim of the present study was to analyse the cellular composition, vascularity, and extracellular matrix distribution of human peritoneal adhesions, to determine whether adhesions represent redundant scar tissue or are dynamic regenerating structures. Furthermore, the histological appearance of each adhesion was correlated with the clinical history of the patient, to determine whether maturity or intraperitoneal pathology influences adhesion structure. Human peritoneal adhesions were collected from 29 patients undergoing laparotomy for various conditions and were prepared for histology, immunocytochemistry, and transmission electron microscopy. All adhesions were highly vascularized, containing well-developed arterioles, venules, and capillaries. Nerve fibres, with both myelinated and non-myelinated axons, were present in adhesions from nearly two-thirds of the patients, with increased incidence in those with a malignancy. Approximately one-third of the adhesions contained conspicuous smooth muscle cell clusters lined by collagen fibres of heterogeneous size. Adipose tissue was a consistent feature of all the adhesions, with some areas displaying fibrosis. There appeared to be no correlation between the estimated maturity or site of each adhesion and its histological appearance. However, intraperitoneal pathology at the time of surgery did influence the incidence of some histological features, such as the presence of nerve fibres, clusters of smooth muscle cells, and inflammation. This study challenges previous concepts that adhesions represent non-functional scar tissue and clearly demonstrates that established adhesions are highly cellular, vascularized, and innervated, features more consistent with dynamic, regenerating structures.
 ...
PMID:Human peritoneal adhesions are highly cellular, innervated, and vascularized. 1095 2

Percutaneous endoscopic gastroscopy (PEG) is now the preferred method for long-term enteral nutrition for patients with inadequate oral intake. It is usually replaced by a Foley catheter when it becomes non-functional because of blockage or wear and tear. PEG tube migration is an unusual complication which may not be noticed by the patient or the medical staff and may present as delayed small bowel obstruction. We report on a patient who developed such a complication and the missing PEG tube was replaced by a Foley catheter when it was thought the original tube had fallen out. The use of catheters with an external stop device is recommended to prevent this rare complication.
 ...
PMID:Percutaneous endoscopic gastroscopy tube migration: a rare cause of a common surgical problem. 1169 78

Postoperative peritoneal adhesions are common and serious complications of general abdominal and gynecological surgery that can lead to chronic abdominal pain, small-bowel obstruction and infertility. The specific pathophysiology of peritoneal adhesions remains elusive and current treatment is relegated to prevention through meticulous surgical technique and protective physical barriers, gels and solutions. We have reported that reactive oxygen species (ROS), generated by phagocytic cells at the site of tissue injury, serve as major signaling molecules regulating the expression of vascular endothelial growth factor (VEGF) and subsequent wound repair. We hypothesized that peritoneal adhesions are a product of over-healing surgical wounds and that, like in wound healing, ROS are implicated in their pathogenesis. We examined the presence of footprints of ROS and the ROS-inducible angiogenic factor VEGF in human adhesion tissue. An experimental model of peritoneal adhesion was established in rodents to study of the dynamics of ROS-induced gene expression during de novo adhesion tissue formation. Immunohistochemical analysis demonstrated presence of ROS/oxidant and macrophages in human peritoneal tissue. The presence of ROS and ROS-sensitive transcription factor EGR-1 was also evident in an experimental rodent peritoneal adhesion model. Along with ROS, VEGF, and a large number of mature and immature CD31/vWF positive blood vessels were present in the adhesion tissue. These observations are not consistent with the contention that adhesions are non-functional scar tissue. The newly developed rodent model of adhesion may present a useful approach to reproducibly and objectively study molecular mechanisms underlying the dynamic process of de novo adhesion tissue formation.
 ...
PMID:Reactive oxygen species and EGR-1 gene expression in surgical postoperative peritoneal adhesions. 1496 Nov 85

Endocrine tumors (ET) of the digestive tract (formerly called neuroendocrine tumors) are rare. They are classified into two principal types: gastrointestinal ET's (formerly called carcinoid tumors) which are the most common, and pancreaticoduodenal ET's. Functioning ET's secrete polypeptide hormones which cause characteristic hormonal syndromes. The management of ET is multidisciplinary. Poorly-differentiated ET's have a poor prognosis and are treated by chemotherapy. Surgical excision is the only curative treatment of well-differentiated ET's. The surgical goals are to: 1. prolong survival by resecting the primary tumor and any nodal or hepatic metastases, 2. control the symptoms related to hormonal secretion, 3. prevent or treat local complications. The most common sites of gastrointestinal ET's ( carcinoids) are the appendix and the rectum; these are often small (<1 cm), benign, and discovered fortuitously at the time of appendectomy or colonoscopic removal. Ileal ET's, even if small, are malignant, frequently multiple, and complicated in 30-50% of cases by bowel obstruction, mesenteric invasion, or bleeding. The carcinoid syndrome (consisting of abdominal pain, flushing, diarrhea, hypertension, bronchospasm, and right sided cardiac vegetations) is caused by the hypersecretion of serotonin into the systemic circulation; it occurs in 10% of cases and is usually associated with hepatic metastases. More than half of the cases of pancreatic ET are non-functional. They are usually malignant and of advanced stage at diagnosis presenting as a palpable or obstructing mass or as liver metastases. Insulinoma and gastrinoma (cause of the Zollinger-Ellison syndrome) are the most common functional ET's. 80% are sporadic; in these cases, tumor size, location, and malignant potential determine the type of resection which may vary from a simple enucleation to a formal pancreatectomy. In 10-20% of cases, pancreaticoduodenal ET presents in the setting of multiple endocrine neoplasia (NEM type I), an autosomal-dominant genetic disease with multifocal endocrine involvement of the pituitary, parathyroid, pancreas, and adrenal glands. For insulinoma with NEM-I, enucleation of lesions in the pancreatic head plus a caudal pancreatectomy is the most appropriate procedure. For gastrinoma with NEM-I, the benefit of surgical resection for tumors less than 2-3 cm in size is not clear. The lesions are frequently small, multiple, and widespread and recurrence is frequent after excision. The long-term prognosis is nevertheless fairly good. But the eventual development of liver metastases which are the most common cause of mortality still argues for an aggressive surgical approach in the early stages of the disease.
 ...
PMID:[Surgical treatment of gastric, enteric, and pancreatic endocrine tumors Part 1. Treatment of primary endocrine tumors]. 1614 76

Neuroendocrine tumors (NET) include a spectrum of malignancies arising from neuroendocrine cells throughout the body. The objective of this clinical investigation of retrospectively and prospectively collected data was to describe the prevalence, demographic data, clinical symptoms and methods of diagnosis of NET and the treatment and long-term follow-up of patients with NET. Data were provided by the participating centers and assessed for consistency by internal reviewers. All the cases were centrally evaluated (when necessary) by the pathologists in our group. The tissue samples were reviewed by hematoxylin and eosin and immunohistochemical staining techniques to confirm the diagnosis of NET. In total, 532 cases were documented: 461 gastroenteropancreatic-NET (GEP-NET) and 71 bronchial NET (BNET). All the tumors were immunohistochemically defined according to the World Health Organization (WHO) and European Neuroendocrine Tumor Society criteria. The most common initial symptoms in GEP-NET were abdominal pain, diarrhea, bowel obstruction, flushing, gastrointestinal bleeding and weight loss. The most common tumor types were carcinoid (58.0%), non-functional pancreatic tumor (23.0%), metastatic NET of unknown primary (16.0%) and functional pancreatic tumor (3.0%). Of the BNET, 89.0% were typical and 11.0% atypical carcinoids. Of the patients with GEP-NET, 59.2% had distant metastasis at diagnosis. The locations of the primary tumors in GEP-NET were the small bowel (26.9%), pancreas (25.2%), colon-rectum (12.4%), appendix (7.6%), stomach (6.9%), esophagus (2.8%), duodenum (2.0%) and unknown primary (16.3%). The histological subtypes based on the WHO classification were well-differentiated NET (20.1%), well-differentiated neuroendocrine carcinomas (66.5%) and poorly differentiated neuroendocrine carcinomas (10.3%). Overall, 67.3% of the patients underwent surgery, 41.2% with curative intent and 26.1% for palliative purposes. The 5-year survival rates were 65.1% (95% confidence interval, 58.0-71.4%) in GEP-NET and 100.0% in typical carcinoid of the lung. This observational, non-interventional, longitudinal study aimed to accumulate relevant information regarding the epidemiology, clinical presentation and current practices in the treatment of NET patients in Argentina, providing insight into regional differences and patterns of care in this heterogeneous disease.
 ...
PMID:Observational study of patients with gastroenteropancreatic and bronchial neuroendocrine tumors in Argentina: Results from the large database of a multidisciplinary group clinical multicenter study. 2505 30

Hirschsprungs disease (HD) in adults is extremely rare, only three publications in Czech and Czechoslovak journals making reference to the condition after childhood. We present two cases of adult patients with HD. The first case is a 46-year-old male patient suffering from chronic constipation since childhood and diagnosed with megacolon at the age of 16; however, no further detailed diagnosis was done. At the age of 41, he developed a sigmoid perforation due to fecaloma and underwent urgent rectosigmoid resection and colostomy. 5 months later, Swensons coloanal anastomosis with diverting ileostomy was performed. Postoperative course was uneventful. He has two bowel movements a day. 7 years after the Swensons procedure, he also underwent adhesiolysis for acute bowel obstruction. His daughter was operated on due to HD at 16 days of age. The second case is a 57-year-old male patient. He suffered from chronic constipation and megacolon since 2 years of age and was diagnosed with congenital megacolon at the age of 19. However, no detailed diagnostics followed. He had a long interval between stools of up to 14 days. He underwent colonoscopy and, with a diagnosis of resistant Crohns disease, was referred to a surgical department where he was diagnosed with HD. Left hemicolectomy was first performed, followed by Swensons procedure with diverting ileostomy. All postoperative courses were uneventful. Currently he passes one or two soft stools a day. Adult HD is extremely rare. However, adult surgeons should consider it in case of refractory constipation since childhood associated with megacolon. Diagnosis is based on contrast radiography and rectal biopsy. Both Swensons and Duhamels procedures are suitable for surgical management. Left hemicolectomy with colonic rotation and coloanal anastomosis and/or proctocolectomy with J-pouch anastomosis are indicated in advanced forms of non-functional megacolon.Key words: adult Hirschsprungs disease - megacolon surgical therapy.
 ...
PMID:[Hirschsprungs disease in adults two case reports and review of the literature]. 2958 57