Subject(s)
DNA, Mitochondrial/genetics , Gastrointestinal Diseases/genetics , Gastrointestinal Diseases/physiopathology , Mitochondrial Diseases/genetics , Mitochondrial Diseases/physiopathology , Point Mutation/genetics , Adenine/metabolism , Adult , Base Sequence/genetics , DNA Mutational Analysis , Electron Transport Complex IV/genetics , Electron Transport Complex IV/metabolism , Energy Metabolism/genetics , Fatal Outcome , Female , Gastrointestinal Diseases/metabolism , Gastrointestinal Motility/genetics , Gastrointestinal Tract/metabolism , Gastrointestinal Tract/pathology , Gastrointestinal Tract/physiopathology , Genetic Markers/genetics , Genetic Predisposition to Disease/genetics , Genetic Testing , Guanine/metabolism , Humans , MELAS Syndrome/genetics , MELAS Syndrome/physiopathology , Middle Aged , Mitochondria/genetics , Mitochondria/metabolism , Mitochondrial Diseases/metabolism , Myocytes, Smooth Muscle/metabolism , Myocytes, Smooth Muscle/pathologyABSTRACT
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by fragmentation and calcification of elastic fibres with resultant pathological changes in the dermis, Bruch's membrane and blood vessels. Defects in Bruch's membrane produce angioid streaks on the retina but this appearance is not pathognomonic of PXE. Biopsy of clinically normal skin or scar tissue in patients with angioid streaks may show the histological features of PXE. OBJECTIVES: To test the hypothesis that biopsy of clinically normal skin is a useful investigation in patients with angioid streaks. METHODS: This prospective study investigated 18 consecutive patients with angioid streaks. Each patient underwent a full dermatological examination and was investigated for diseases known to be associated with angioid streaks. Axillary skin biopsies were taken from 14 consenting patients. RESULTS: Typical PXE was found in 11 patients. No other diseases associated with angioid streaks were identified. Five patients had angioid streaks in the absence of systemic disease. Two patients had nondiagnostic dermatological features which were not clarified by histology. Two of the 11 patients with PXE showed histological evidence of PXE from clinically normal axillary skin. However, in both cases flexural skin elsewhere showed the typical clinical and histological features of PXE. CONCLUSIONS: This study demonstrates the association between angioid streaks and PXE. However, it does not support the hypothesis that biopsy of normal-looking skin is helpful in the investigation of adult patients with angioid streaks.
Subject(s)
Angioid Streaks/etiology , Pseudoxanthoma Elasticum/complications , Pseudoxanthoma Elasticum/pathology , Skin/pathology , Adolescent , Adult , Aged , Axilla/pathology , Biopsy , Female , Humans , Male , Middle Aged , Prospective StudiesABSTRACT
AIMS: Accurate staging of gastric, oesophageal and oesophagogastric cancer is essential to avoid unnecessary laparotomies in patients where only palliation is appropriate. This requires a multimodal approach utilizing endoscopy, computed tomography and laparoscopy. Previous authors have found that the presence of free peritoneal tumour cells (FPTCs) detected at laparoscopy or laparotomy confers a poorer prognosis. However, various methods of peritoneal lavage are described. The aim of this study was to evaluate the prognostic value of our technique of peritoneal lavage. MATERIALS AND METHODS: 88 staging laparoscopies with peritoneal lavage were carried out between March 1997 and February 1999 on patients eligible for attempted curative resection of a gastric, oesophageal or oesophagogastric cancer. During laparoscopy the pelvis was irrigated with 200 ml of normal saline, with 100 ml aspirated and examined cytologically. Patients were followed-up until September, 1999. RESULTS: 11 patients had FPTC-positive cytology with a median survival following laparoscopy of 122 days (95% CI 82-161) with only a single patient surviving more than one year. In the FPTC-negative group, median survival was 378 days (95% CI 256,-). Log-rank Chi(2)=16.7, P<0.001. CONCLUSIONS: The presence of FPTCs detected by our technique is a contraindication to attempted curative resection - palliation only (medical or surgical) is appropriate.
Subject(s)
Esophageal Neoplasms/mortality , Esophageal Neoplasms/pathology , Neoplasm Staging/methods , Peritoneal Lavage/methods , Stomach Neoplasms/mortality , Stomach Neoplasms/pathology , Adult , Aged , Female , Humans , Laparoscopy , Male , Middle Aged , Probability , Prognosis , Proportional Hazards Models , Prospective Studies , Sensitivity and Specificity , Survival AnalysisABSTRACT
The hepatic histology and clinical status of 37 children on long-term parenteral nutrition (PN) referred for consideration of small bowel transplantation were determined. Seventy five percent of the children had splenomegaly and plasma bilirubin level of greater than 100 mumol/L. All of 21 children who underwent liver biopsy, had increased fibrosis, but only half had established cirrhosis. Thirty-one children were considered to be in need of transplantation (combined liver and bowel transplant, 29; isolated bowel transplant, 2), but only 13 were stable enough to be placed on the transplant list. Seven out of the thirteen children waiting have died because of lack of size-matched organs, and the overall mortality rate of the 37 children was 70%. The main risk factors for death within 6 months were bilirubin level of greater than 100 mumol/L, splenomegaly, and cirrhosis (P = .01). The natural history of PN-associated liver disease is that of progressive liver failure and death 6 to 12 months after onset of cholestasis, defined as bilirubin level of greater than 100 mumol/L. The development of cirrhosis occurs after the onset of jaundice, so early referral may also permit some children to be offered isolated bowel transplantation, which has better outcome than combined liver and bowel transplantation.
