The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population.

BACKGROUND: The prevalence of lactase persistence is high in Saudi Arabia. OBJECTIVE: To identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia. METHODS: We sequenced DNA from 432 anonymous neonatal blood donors from five different regions of Saudi Arabia to cover the 400 bp region surrounding the previously identified lactase persistence/non-persistence variant C/T-13910 residing in intron 13 of the MCM6 gene. RESULTS: Two anonymous blood donors carried the C/T-13910 genotype. One variant, T/G -13915, residing 5 bp upstream of the C/T-13910 variant, was present in 332 of 432 (76.9%) of the neonatal samples, compatible with previous prevalence figures of lactase persistence in urban Saudi populations. Determination of disaccharidase activities in 25 intestinal biopsy samples showed a highly significant correlation between lactase activity and the T/G-13915 genotypes (p<0.001; Fisher exact test) as well as between the L:S ratio and the aforementioned genotypes (p<0.001; Fisher exact test). CONCLUSION: The T/G-13915 variant is the founder mutation of lactase persistence in an urban Saudi population. The results obtained here have implications for genetic testing of adult-type hypolactasia and to analysis of human evolution, the origin of cattle domestication and migrations of the populations in the Arabian peninsula.

Hepatitis B virus reactivation with clinical flare in allogeneic stem cell transplants with chronic graft-versus-host disease.

We conducted a retrospective study with the aim of identifying risk factors and clinical characteristics associated with HBV reactivation and clinical flare after allogeneic stem cell transplantation (aSCT). We reviewed the King Faisal Specialist Hospital and Research Center International Bone Marrow Transplant Registry database from January 1998 to June 2000. Complete serological screening for HBV was available in 128 of 131 patients transplanted during that period. Fifty-four (42%) had evidence of prior infection and recovery from HBV before transplant (hepatitis B core antibody positive, B surface antigen negative). Forty-two were evaluable for HBV reactivation and clinical flare. Six (14%) reactivated with clinical flare as documented by seroconversion and/or positive HBV DNA in the serum with biochemical hepatitis at 5.5, 18, 18, 19, 21 and 23 months post-transplant. Five of fifteen patients with chronic graft-versus-host disease (cGVHD) reactivated with clinical flare in contrast to 1/27 without cGVHD (RR: 9.0, 95% CI: 1.2-70.1 P < 0.02). HBV reactivation with clinical flare occurred during immunosuppressive therapy tapering or withdrawal in all patients. In conclusion, hepatitis B core antibody positive allogeneic stem cell recipients with cGVHD are at significant risk of HBV reactivation with clinical flare.

Familial occurrence of microscopic colitis: a report on five families.

BACKGROUND: The etiology and pathogenesis of microscopic colitis is unknown. Whether genetic predisposition is of importance, as in many other gastrointestinal diseases, is unknown. Familial occurrence of collagenous colitis has earlier been reported only in two families. METHODS: Familial occurrence of microscopic colitis was searched for in a Swedish national microscopic colitis register. RESULTS: Familial occurrence of microscopic colitis was identified in five families. In all families a sister-sister relationship was found. Two sisters with collagenous colitis had been living apart in different Nordic countries for many years before developing the disease. In one pair, the smoking sister had collagenous colitis and the never smoking sister had lymphocytic colitis. CONCLUSIONS: Considering the relative rarity of microscopic colitis, these findings indicate that a genetic predisposition may be of importance.

Portal vein thrombosis mimicking tumour and causing obstructive jaundice. A case report.

The case of a 28-year-old female patient with portal vein thrombosis mimicking tumour and causing obstructive jaundice is presented. The cavernous-transformed enlarged portal vein, explaining the mass-like lesion in the hepatic hilum on ultrasonography, compressed the extrahepatic bile ducts and caused obstructive jaundice. Endoscopic retrograde cholangiography demonstrated multiple nodular extrinsic indentations of the extrahepatic bile ducts with moderately dilated intrahepatic bile ducts.

Imaging of tuberculosis. II. Abdominal manifestations in 112 patients.

PURPOSE: To describe the radiological findings of tuberculosis (TB) of the abdomen as reflected at our hospital. MATERIAL AND METHODS: The radiological files of 503 patients (referred to our institution mainly because of a clinical suspicion of malignancy, and found to have culture- or biopsy-proven TB) were reviewed in order to analyze the spectrum of the TB manifestations in this group of patients. RESULTS: Abdominal manifestations were found in 112 patients, in 1/3 abdominal disease was the only evidence of TB. More than half of the patients also had chest TB. The most common abdominal TB manifestations were peritonitis and lymph node enlargement, each occurring in about 1/3 of the patients. Also 1/3 had genitourinary TB manifestations. About 1/5 had TB of the liver, spleen or pancreas or in the gastrointestinal tract, respectively. Multiple organ involvement was common. CONCLUSION: The need to consider TB in the differential diagnosis in patients with obscure abdominal symptoms, especially with multiple organ involvement, is stressed.

Self-expanding nitinol stent for malignant obstructive dysphagia - initial experience.

Between July 1992 and December 1994, a total of 31 patients with inoperable or unresctable malignant obstruction of the esophagus or esophagogastric junction were palliated with self-expanding nitinol stents. They were 33 to 86 years old, 55% being 70 years or older. Twenty patients were male. Twenty patients (65%) had squamous cell carcinoma, 10 (32%) had adenocarcinoma and one (3%) had undifferentiated carcinoma. Twenty-five patients (81%) required prestenting dilatation with balloons, bougies or laser. Stent implantation was successful in 30 patients (97%) but failed in one. Two patients had minor complications and one patient with advanced disease died in the hospital one week after the procedure. All stended patients experienced significant short-term relief of dysphagia. Twenty-two patients (73%) were seen at least once after discharge in a follow-up visit. Twenty (66%) were still swallowing satisfactorily when last seen four to 32 weeks after stenting. We conclude that the new nitinol stent represents an important and valuable addition to the treatment options available for palliation of malignant dysphagia.

Yield and complications in ultrasound-guided biopsy of abdominal lesions. Comparison of fine-needle aspiration biopsy and 1.2-mm needle core biopsy using an automated biopsy gun.

A series of 458 consecutive ultrasound-guided biopsies in 347 patients-171 fine-needle aspiration biopsies (FNABs) and 287 1.2-mm needle core biopsies (NCBs)-was analysed for diagnostic yield and complications. FNAB was diagnostic in 107 (64%) biopsies of focal lesions with a correct diagnosis of malignancy in 86 of 125 biopsies (69%) and of benign disease in 21 of 43 (49%) biopsies. NCB provided a correct diagnosis in 189 (90%) biopsies for focal lesions, divided into 140 of 159 (88%) correct for malignancy and 49 of 50 (98%) correct for benign disease. In 69 patients examined with both FNAB and NCB on the same occasion, 50 out of 55 malignant lesions were identified with NCB but only 34 with FNAB; all 14 benign lesions were correctly identified by NCB, and only 6 by FNAB. Clinical relevant bleeding complications occurred in 6 out of 458 biopsies (1.3%)-3 out of 287 following NCB (1.0%) and 3 out of 171 following FNAB (1.8%). It is concluded that if FNAB is replaced with 1.2-mm NCB using an automated biopsy gun, the diagnostic accuracy for abdominal lesions increases significantly (p < 0.001), while the complication rate remains the same.

Budd-Chiari syndrome misinterpreted as an infiltrating liver mass. A case report.

A case of Budd-Chiari syndrome (BCS), due to hepatic venous blockage, was initially misinterpreted on CT and ultrasonography (US) as an infiltrating mass of the liver. The irregular enlargement on US and the irregular enhancement with large hypodense areas on CT were believed to be due to an infiltrating mass. US-guided biopsy suggested BCS by showing central liver congestion without any signs of tumor growth. The diagnosis was confirmed by hepatic venography demonstrating collateral veins with a typical spiderweb appearance. BCS is a rare, often lethal, condition and in order to reach an early and accurate diagnosis it is essential to be aware of the syndrome.

Paraesophageal varices presenting as a retrocardiac mediastinal mass. A case report.

This report is a reminder that portal hypertension with paraesophageal varices can present as a retrocardiac mass on the chest radiograph. Schistosoma mansoni, the probable etiology in this case, causes periportal fibrosis and is the most common explanation for portal hypertension worldwide. Modern imaging techniques were most helpful in the diagnostic work-up, ultrasonography revealing pathognomonic hyperechoic periportal bands, and CT and MR imaging showing the extent of collaterals.

Hydatid disease of the urinary tract.

Hydatid disease of the urinary tract is uncommon, accounting for only 2 to 3% of all such cases. We report 2 cases of urinary tract hydatidosis, of which 1 was associated with disseminated disease and 1 with isolated renal hydatid disease. We describe the variety in presentation, manifestations and symptoms of the disease, and discuss radiological evaluation and findings.

Endoscopic findings and diagnoses in unselected dyspeptic patients at a primary health care center.

This study reports the findings on endoscopy and the final diagnoses of 172 consecutive patients with dyspepsia from a primary health care center. The purpose of our study was to carry out a thorough gastroenterologic investigation of all patients consulting their general practitioner and reporting dyspepsia during 1 full year, from a population within a defined geographic area. The examinations included patient history, physical examination, laboratory tests, esophagogastroduodenoscopy (EGD), and sigmoidoscopy. All the examinations, including the EGDs, were done at the primary care center. A final diagnosis was settled after a minimum of 6 months. Six per cent had esophagitis, 13% had peptic ulcer disease, 1% had gastric cancer, and 1% had irritable bowel disease. Completely normal endoscopies were seen in 19%. No patient had villous atrophy. Sixty-four per cent had non-ulcer dyspepsia, and 26% had inflammatory bowel syndrome, with great overlapping. It is concluded that open-access endoscopy is a valuable service to primary care, the result of which greatly enhances the diagnostic accuracy in dyspeptic patients entering primary care.

Sucralfate versus placebo in reflux esophagitis. A double-blind multicenter study.

The healing capacity and symptom relief were studied in 138 patients with symptomatic endoscopically verified reflux esophagitis treated with sucralfate (n = 69) or placebo (n = 69), 1 g four times daily (granules suspended in half a glass of water), for at most up to 12 weeks. The reflux esophagitis (modified Savary-Miller scale) was distributed with 71 patients having grade 1, 39 patients having grade 2 or 3, and 28 patients having grade 4. All patients were told to follow the antireflux regimen. Antacid tablets were supplied, to be used only for the relief of severe pain, and were counted. The esophageal lesions were completely healed in 42% (sucralfate) and 35% (placebo) after 6 weeks of treatment (NS). Corresponding cumulative healing rates at 12 weeks of treatment were 54% and 41% (NS), respectively. The symptom improvement, however, was significantly better in the sucralfate group after 3 weeks of treatment. The results indicate a symptomatic benefit of sucralfate in reflux esophagitis.

Recurrent ulcer after treatment with cimetidine or sucralfate.

The recurrence of peptic ulcer disease after successful treatment with 400 mg cimetidine twice daily or 1 g sucralfate four times daily was investigated in a double-blind, 1-year follow-up study. Endoscopy was performed if ulcer symptoms recurred and 2-4 and 9-11 months after endoscopically confirmed healing of the initial ulcer. No anti-ulcer medication was permitted during the follow-up period. The recurrence rates were 71% in the cimetidine group (n = 143) and 68% in the sucralfate group (n = 115) (p greater than 0.3). The rate of asymptomatic ulcer relapse was 26% in the cimetidine and 23% in the sucralfate group (p greater than 0.4). The time to relapse did not differ between the treatment groups (p greater than 0.3). In the cimetidine group smokers had a higher 12-month recurrence rate than non-smokers, 83% compared with 58% (p less than 0.01). The corresponding figures in the sucralfate group were 76% and 57% (p = 0.057). The median time to recurrence in the cimetidine-treated group was 17 weeks among smokers, compared to 43 weeks among non-smokers (p less than 0.001). In the sucralfate-treated group the median time to recurrence was 23 weeks among smokers and 32 weeks among non-smokers (p greater than 0.3). Pre-study use of non-steroidal anti-inflammatory drugs and the time to healing of the initial ulcer did not influence the relapse rates in either of the treatment groups.

Relapse rate of healed duodenal, prepyloric, and gastric ulcers treated either with sucralfate or cimetidine.

A multicenter double-blind study was designed to compare the relapse rates of peptic ulcers after initial healing with a cytoprotective agent and a histamine (H2)-receptor antagonist. Patients with endoscopically verified prepyloric or duodenal ulcers were treated with cimetidine 400 mg twice daily or sucralfate 1 g four times daily for a maximum of eight weeks; gastric ulcers were treated for up to 12 weeks. Patients with healed ulcers were followed up to 12 months, during which time anti-ulcer medication was not permitted. Control endoscopy was performed two to four and nine to 11 months after healing and at the time of symptomatic relapse. A total of 258 patients were followed for 12 months; of these, 143 had been previously treated with cimetidine and 115 had been treated with sucralfate. The relapse rates and the median time to relapse did not differ between the two groups. After 12 months, 71 percent of the previously cimetidine-treated patients and 68 percent of the sucralfate-treated patients had experienced a relapse. Smoking significantly increased the relapse rate and shortened the time to relapse in the total study population and among cimetidine-treated patients; it had no such effect in the sucralfate-treated group.

Short-term treatment of prepyloric ulcer. Comparison of sucralfate and cimetidine.

A double-blind, randomized, multicenter study was performed to compare the effect of sucralfate (1 g qid) and cimetidine (400 mg bid) in the treatment of prepyloric ulcer. Altogether 142 patients (68 in the sucralfate and 74 in the cimetidine group) with endoscopically confirmed ulcer within 2 cm of the pylorus completed the study. Endoscopic follow up was performed after four weeks and, if the ulcer was not healed, after eight weeks of treatment. After four weeks, 65% of the ulcers in the sucralfate group were healed, compared to 70% in the cimetidine group. There was no significant difference between sucralfate and cimetidine at either time point. The 95% confidence interval for the difference in ulcer healing with sucralfate or cimetidine ranged from +4 to -19% at eight weeks. Said another way, with an observed difference of 7% (83% vs 90%), the 95% confidence limit ranged from 4% in favor of sucralfate to 19% in favor of cimetidine. Symptomatic relief, antacid intake, and side effects did not differ significantly between the two groups. The healing rate of prepyloric ulcer in this study is similar to that reported for duodenal ulcer after four and eight weeks when treated with sucralfate or cimetidine. Sucralfate is safe and as effective as cimetidine in the short-term treatment of prepyloric ulcer.