PRENATAL DIAGNOSIS Ⅰ. EARLY DIAGNOSIS OF OPEN NEURAL TUBE DEFECTS BY QUALITATIVE ACETYLCHOLINESTERASE ISOENZYME IN AMNIOTIC FLUID

The measurement of amniotic fluid (AF) acetylcholinesterase isoenzyme (AChEI) is a relatively new method for early diagnosis of open neural tube defects (NTDs). As quantitative methods are of unproven reliability at present, the authors used a high resolving power qualitative method-vertical slab polyaerylamide gel electrophoresis. The benefits of this technique are: simplicity of operation, accuracy, unsophisticated equipment, and easily available reagents. Combined results of 9 NTDs studies revealed that samples from early pregnancy gave more accurate results than those from late pregnancy.     

The Angelchik antireflux device: a 5-year experience.

A total of 44 patients had an Angelchik antireflux prosthesis inserted over a 5-year period. Of these, 41 were available for review and were assessed by interview using a modified Visick grading. Of the 23 patients followed up for a minimum of 3 years 74% had an excellent or satisfactory outcome; 92% of patients with symptoms of reflux obtained relief, but less than 50% of those patients presenting with dysphagia had a satisfactory outcome. The incidence of mild postoperative dysphagia increased the longer the period of follow-up. The main cause of a Visick 3 or 4 result was prosthesis migration. We have modified our technique of insertion to reduce these complications, and in a more recent series have achieved a Visick Grade 1 or 2 in up to 92% of patients. We conclude that dysphagia is a relative contraindication to the insertion of the Angelchik prosthesis. Our recent results encourage the use of the prosthesis provided steps are taken to reduce the incidence of migration and pericapsular fibrous tissue formation.     

The CC chemokine receptor 5 delta32 mutation is not associated with inflammatory bowel disease (IBD) in NE England

Inflammatory bowel disease (IBD) is a group of chronic inflammatory diseases of the gastrointestinal tract of unknown aetiology. Evidence of abnormalities in immune regulation and cytokine production in patients with IBD has led to investigations of various immuno-regulatory genes as potential candidate susceptibility loci. Studies using whole genome scanning have highlighted chromosomes 3, 7, 12 and 16. A 32 base-pair deletion in the CC-chemokine receptor-5 gene (CCR5-A32, chromosome 3p21.3) has been associated with susceptibility to IBD. We have investigated CCR5 as a candidate susceptibility gene in 350 patients (251 with ulcerative colitis and 99 with Crohn's disease) and 103 controls using polymerase chain reaction. There were no significant differences in the distribution of CCR5 genotypes or frequencies comparing patients and controls, or associations with extent of colitis. In contrast to preliminary data, these findings suggest no evidence for involvement of this mutation in susceptibility/resistance or disease progression in IBD.     

放置不锈钢宫内节育器20年的子宫内膜亚显微结构的变化

为了了解放置不锈钢宫内节育器的安全性,我们收集了8例放置不锈钢宫内节育器20年、月经正常妇女之子宫内膜,在亚显微水平观察其变化。结果指出:压迫区子宫内膜有不同程度之萎缩或变性;移行区子宫内膜有轻度变性、轻度增生、个别细胞肥大及鳞状化生,未见明显癌变;远离区则无明显病变,对内源性性激素反应比较正常,即使核内管道系统与巨大线粒体亦仍在第17、19天两侧内膜中出现。因此,认为放置不锈钢宫内节育器20年后之子宫内膜不一定会发生严重的破坏或癌变。结合临床分析,将不锈钢宫内节育器存放时间延长至20年是可以的。     

Push enteroscopy in a UK district general hospital: experience of 51 cases over 2 years

OBJECTIVES : To determine the number of patients referred for enteroscopy in a district general hospital (DGH), the indication, enteroscopic +/- histological diagnosis, and to compare findings with other series from tertiary referral centres or outside the UK. DESIGN : Retrospective case series over a 2-year period. RESULTS : In the 2-year period, 52 patients were referred for enteroscopy. All except one underwent enteroscopy. The mean age of the patients was 60 years (range 31-84 years). The main indications for enteroscopy were obscure gastrointestinal haemorrhage in 31 (61%) patients (19 with acute and 12 with chronic bleeding) and 7 (14%) patients with arteriovenous malformations (AVMs) on initial oesophagogastroduodenoscopy (OGD). Other indications included clinical deterioration in known coeliac disease in four (8%) patients and abnormal small-bowel follow-through in five (10%) patients. More than half (51%) of the enteroscopies were reported as abnormal, but 10 (38%) had pathology in the stomach or first part of the duodenum (D1) not diagnosed on initial OGD. Diagnoses of two T-cell lymphomas and one of pre-lymphomatous monoclonal T-cell proliferation were made in the refractory coeliac disease group. CONCLUSIONS : Indications (obscure gastrointestinal bleeding), most frequent findings (small-bowel AVMs), and 'missed' lesions within reach of a gastroscope (20%) were in keeping with other series. Enteroscopy is a useful tool in investigating patients with refractory coeliac disease. Its value in investigating patients with abnormal small-bowel radiology was not confirmed. The current need for push enteroscopy in a DGH is small (approximately 1 per 8000 population per year), but it would take only small changes in referral practice to escalate. Criteria for enteroscopy should be developed and refined with improving knowledge of the diagnostic yield for each indication and clinical outcome.     

Role of polymorphisms in the interleukin-10 gene in determining disease susceptibility and phenotype in inflamatory bowel disease

Interleukin-10 (IL-10) has a key role in regulating mucosal inflammation. The role of functional polymorphisms at positions –627 and –1117 in the IL-10 gene as candidate susceptibility loci in inflammatory bowel disease and their importance in determining disease extent were evaluated in 159 patients with ulcerative colitis (83 left-sided; 76 extensive), 90 patients with Crohn's disease (22 small bowel; 29 large bowel; 39 both), and 227 controls. Genotyping was performed either by PCR-RFLP assays (–627 site) or SSCP analysis (–1117 site). An excess of –627A allele was observed in patients with left-sided colitis (52%) compared with controls (33%; P = 0.004) suggesting that IL-10 may influence the extent of the disease. These results were not replicated in a newly recruited group (N = 100) of patients with UC. We conclude that polymorphisms at –627 and –1117 sites in the IL-10 gene do not contribute to the susceptibility to IBD or determining the extent of the disease in our population.