Definitions, methodology and therapeutic strategies in portal hypertension. A Consensus Development Workshop, Baveno, Lake Maggiore, Italy, April 5 and 6, 1990.
Explore the source record for details and available documents.
Humans↗
Biomedical subjects
R de Franchis
Publications and source records attributed to R de Franchis.
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.
We describe two new cases of cardio-facio-cutaneous (CFC) syndrome, and underline the clinical variability of the CFC phenotype in our two patients presenting with border-line psychomotor development. The first patient showed some additional clinical manifestations, such as cryptorchidism and scoliosis, and the second one had atypical skin lesions.
Cryptorchidism↗
Why do varices bleed?
About one third of cirrhotic patients with esophageal varices eventually bleed from ruptured varices. The incidence of rebleeding is extremely high during the first 6 weeks after the initial bleeding but declines gradually thereafter. Later, the rebleeding risk returns to baseline levels, i.e., equals that of patients who have never bled. The size of varices and the presence of red color signs on the variceal wall are recognized by most investigators as important in assessing the risk of variceal hemorrhage. Prognostic indexes such as the NIEC index, which incorporate the endoscopic signs with clinical data such as the Child-Pugh score, have been shown to predict the probability of first variceal hemorrhage of individual patients reliably. Other important parameters are the presence of ascites and, in alcoholic cirrhotics, the lack of abstinence from alcohol. The presence of endoscopic signs of bleeding or of stigmata of recent bleeding, of large varices, or of liver failure at the time of first bleeding are risk factors for early rebleeding. The most important risk factors for late rebleeding are the presence of large varices, overt signs of hepatic decompensation, the development of hepatocellular carcinoma, and lack of alcohol abstinence.
Endoscopy, Gastrointestinal↗
Hepatocellular carcinoma in Italian patients with cirrhosis.
BACKGROUND AND METHODS: Patients with cirrhosis of the liver are recognized as being at risk for hepatocellular carcinoma. The magnitude of the risk, the natural history of this disease, and the possibilities for detecting potentially curable tumors in patients in the Western world are unknown. To address these questions, we examined 447 Italian patients with well-compensated cirrhosis (which was of viral origin in 62 percent of them) from 1985 through 1990, performing serum alpha-fetoprotein assays and real-time ultrasonography every 3 to 12 months. RESULTS: Hepatocellular carcinoma was found in 30 patients (7 percent) at base line and in another 29 patients (7 percent of 417 patients free of tumor at base line) during follow-up periods averaging 33 months (range, 1 to 48). The cumulative hazard of the development of hepatocellular carcinoma during follow-up was higher among patients with persistently elevated serum alpha-fetoprotein levels (12 with tumors among 42 with such levels) than among those with fluctuating levels (11 among 82) or those with consistently normal levels (6 among 255). Only 17 patients had potentially operable tumors. The proportion of potentially operable tumors among those detected during follow-up was significantly lower than the proportion at enrollment (4 of 29 vs. 13 of 30, P = 0.027). The survival at one year of the 12 patients who underwent surgery was 67 percent, and the tumor-recurrence rate was 60 percent. Outcome was not appreciably different for the five patients who refused surgery. CONCLUSIONS: In the West, as in Asia, patients with cirrhosis of the liver are at substantial risk for hepatocellular carcinoma, with a yearly incidence rate of 3 percent. Our screening program did not appreciably increase the rate of detection of potentially curable tumors.
Adult↗
Risk of thromboembolic complications in patients with inflammatory bowel disease. Study of hemostasis measurements.
A large number of hemostasis measurements complications were performed in 20 patients with inflammatory bowel disease; whose changes have been associated with an increased risk of thromboembolic. Of the 20 patients, 9 (45%) had one or more changes suggestive of activation of the hemostatic system. Such changes were more frequently observed in patients with active disease. Two patients had changes in the fibrinolytic system (high plasminogen activator inhibitor-1 levels) and 2 in the natural anticoagulants (low antithrombin III activity). Nine patients had increased plasma fibrinogen levels and 6 patients had slightly increased levels of anticardiolipin antibodies. Most of the changes observed were not related to the type, location or activity of the disease. These data show that various biochemical abnormalities may be found in patients with inflammatory bowel disease, which may account for their increased risk of thrombosis, and suggest that multiple mechanisms may interact in determining such complications.
Adult↗
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a base pair deletion in exon 8), and N334K (a G----C transversion in exon 9). We have investigated the occurrence of these mutations in 11 Italian patients affected by HFI using PCR and hybridisation to specific oligomers. We found that four patients were homozygous for the A149P mutation, two patients were homozygous for the A174D mutation, three patients were compound heterozygotes for both the A149P and A174D mutations, one patient was homozygous for the N334K mutation, and one patient did not show any of the reported mutations (HFI diagnosis carried out by aldolase B assay). The L288 delta C mutation has not been found in this survey.
Base Sequence↗
Molecular analysis of aldolase B genes in hereditary fructose intolerance.
The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288 delta C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.
Alleles↗
Gastric histology and function tests in Italian patients with dermatitis herpetiformis.
Gastric mucosal histology and function were evaluated in 57 Italian subjects with dermatitis herpetiformis (DH), by means of multiple endoscopic biopsies, gastrin and pepsinogen I (Pg I) serum levels, and parietal cell antibodies (PCA). One hundred and forty-nine patients with nonulcer dyspepsia served as reference population for the prevalence of atrophic gastritis of the body. Seventeen DH patients (30%) and 23 controls (15.4%) showed atrophic gastritis of the body mucosa (p less than 0.05). Nine of the DH patients with atrophic gastritis of the body also had atrophic changes in the antrum. Six patients, all with severe atrophic gastritis, had high gastrin levels and PCA; five of these six also had low Pg I levels. We found an increased prevalence of abnormal indirect function tests among patients with atrophic gastritis is due to the younger age of the patients in our series. Thus, atrophic gastritis can be detected early on a histologic basis, but functional impairment occurs later, as the mucosal damage increases in severity.
Adolescent↗
Beta-blockade prevents recurrent gastrointestinal bleeding in well-compensated patients with alcoholic cirrhosis: a multicenter randomized controlled trial.
To assess the efficacy of beta-blockers in preventing rebleeding in selected cirrhotic patients and to compare the tolerance, safety and patient compliance of a selective and a nonselective beta-blocker, 94 patients were randomly assigned to propranolol (32 patients), atenolol (32 patients) or placebo (30 patients). Randomization was made at least 15 days after the bleeding episode. Propranolol was given orally at increasing doses until the resting pulse rate was reduced by approximately 25%. Atenolol was given at a fixed dose of 100 mg per day. Patients were followed up for a mean of 357 days. Rebleeding occurred in 14 patients in the placebo group, 10 in the atenolol group and eight in the propranolol group. The incidence of rebleeding was significantly lower in patients receiving propranolol than in those on placebo (propranolol vs. placebo: p = 0.01, logrank test). Atenolol was less effective than propranolol (atenolol vs. placebo: p = 0.065, logrank test). Bleeding-free survival was better for patients on active drugs than for those on placebo (propranolol vs. placebo = p = 0.01, atenolol vs. placebo: p = 0.05, logrank test). Retrospective analysis revealed that, whatever the type of treatment, abstinence from alcohol was crucial in preventing rebleeding. We conclude that beta-blocker treatment is effective in preventing rebleeding from esophageal varices in carefully selected alcoholic cirrhotic patients who survive at least 2 weeks after acute variceal hemorrhage and stop drinking.
Actuarial Analysis↗
Evidence of altered structural and secretory glycoconjugates in the jejunal mucosa of patients with gluten sensitive enteropathy and subtotal villous atrophy.
The pattern of lectin histochemistry in formalin fixed, paraffin embedded normal jejunal and subtotal villous atrophy specimens from patients with gluten sensitive enteropathy were compared. There was no significant difference in the binding pattern of five lectins (Arachis hypogaea, Canavalia ensiformis, Lens culinaris, Phaseolus vulgaris and Triticum vulgaris) between normal and abnormal specimens. There were significant changes in the binding pattern of three lectins (Dolichos biflorus, Ulex europaeus, Ricinus communis), with special reference to goblet cells staining. These changes were present in all the specimens studied, regardless of the clinical diagnosis of dermatitis herpetiformis or coeliac disease. Dolichos biflorus reactive goblet cells were significantly decreased (p less than 0.001) in abnormal tissue and confined to the luminal edge of the mucosa. Strong reactivity of goblet cells in abnormal tissue was recorded with Ricinus communis and Ulex europaeus, lectins that bind to few or no goblet cells in normal tissue. These findings show that modifications of structural and secretory glycoconjugates occur in the jejunal mucosa of patients with gluten sensitive enteropathy.
Atrophy↗
Beta-blockers in the secondary prevention of gastrointestinal haemorrhage in well-compensated cirrhotics. A multicentre randomised controlled study.
To assess the efficacy of beta-blockers in the prevention of rebleeding in selected cirrhotics and to compare the tolerability, safety of, and patient compliance with, a selective and a non-selective beta-blocker, 94 patients were randomly assigned to propranolol (32), atenolol (32), or placebo (30). Randomisation was made at least 15 days after the bleeding episode. Propranolol was given orally in increasing doses until the resting pulse rate was reduced by approximately 25%. Atenolol was given at a fixed dose of 100 mg/day. Patients were followed up for a mean of 357 days. Rebleeding occurred in 14 patients in the placebo group, 10 in the atenolol group and 8 in the propranolol group. The incidence of rebleeding was significantly lower in patients receiving propranolol than in those on placebo (PR vs PL: p less than 0.01, log-rank test). Atenolol was less effective than propranolol (AT vs PL: p = 0.065, log-rank test) but bleeding-free survival was improved for patients on active drugs compared with those patients on placebo (PR vs PL: p = 0.01; AT vs PL: p = 0.05, log-rank test). Retrospective analysis revealed that, whatever the type of treatment, abstinence from alcohol was crucial in preventing rebleeding. It was concluded that beta-blocker treatment is effective in preventing rebleeding from oesophageal varices in carefully selected alcoholic cirrhotics who survive at least 2 weeks after acute variceal haemorrhage and who cease drinking.
Adrenergic beta-Antagonists↗
Esophageal motility in cirrhotics with and without esophageal varices.
Esophageal manometry was performed in 45 cirrhotics with varices, in 15 cirrhotics without varices, and in 20 normal subjects, to define the effect of varices on esophageal motility. Cirrhotics with varices showed a decreased amplitude of motor waves in the lower half of the esophagus (p less than 0.01), an increased duration of primary peristaltic waves along the entire length of the esophagus (upper esophagus, p less than 0.05; lower esophagus, p less than 0.01), and an increased peak-to-peak speed of primary peristaltic waves (p less than 0.01). Resting lower esophageal sphincter pressure and duration of sphincter relaxation were similar in patients and controls. The above-mentioned abnormalities might be due to the mechanical effect of the presence of varices.
Adolescent↗
A potent inhibitor of Taq polymerase copurifies with human genomic DNA.
Explore the source record for details and available documents.
DNA↗
Ultrasound-assisted percutaneous liver biopsy: superiority of the Tru-Cut over the Menghini needle for diagnosis of cirrhosis.
A total of 1192 consecutive patients with diffuse liver disease were randomized to have percutaneous liver biopsy specimens taken with the Menghini or the Tru-Cut needle, to compare tissue yield, safety, and accuracy of the two needles for diagnosing cirrhosis. The sites of puncture were determined by prebiopsy ultrasound scans. Adequate samples were obtained from 94% with the Tru-Cut needle and from 79.2% with the Menghini needle (p less than 0.001). Accuracy in diagnosing cirrhosis was 89.5% for the Tru-Cut needle and 65.5% for the Menghini needle (p less than 0.05). Complication rates were very low and similar for both needles. Under these conditions, the Tru-Cut needle is superior to the Menghini needle for diagnosing cirrhosis.
Biopsy, Needle↗
Evaluation of structural and secretory glycoconjugates in normal human jejunum by means of lectin histochemistry.
The labelling pattern of eight lectins was studied in jejunal samples from ten normal subjects, in order to define the normal distribution of structural and secretory glycoconjugates in the small bowel. The following lectins were studied by means of a peroxidase technique on formalin-fixed samples: Arachis hypogaea, Ricinus communis, Canavalia ensiformis, Lens culinaris, Phaseolus vulgaris, Triticum vulgaris, Ulex europaeus, Dolichos biflorus. Phaseolus vulgaris reacted with goblet cell mucus throughout the villus-crypt axis. Conversely Ulex europaeus, Dolichos biflorus and Triticum vulgaris lectin labelling of goblet cells appeared to be confined to the upper part of the villi. This finding suggests that during cell migration from crypt to villus tip, the continuing maturation of goblet cells is associated with the differentiation of secretory carbohydrates, which probably parallels the cell maturation cycle. Lectin histochemistry appears to be a reliable tool for the study of structural and secretory glycoconjugates in the jejunal mucosa, and might be of value in the study of diseases in which the cell-maturation cycle in the small bowel is altered.
Concanavalin A↗
Activation of coagulation in cirrhotics after endoscopic variceal schlerotherapy.
To investigate the occurrence and extent of activation of coagulation after endoscopic variceal sclerotherapy (EVS), we performed serial measurements of conventional coagulation tests [prothrombin time (PT), partial thromboplastin time (PTT), platelets, and fibrinogen], and of plasma fibrinopeptide A (FPA) in 39 cirrhotic patients undergoing 55 sessions of elective EVS. Thrombin (20 U/ml) and sodium morrhuate 5% were used in sequence as sclerosants on 34 occasions. In the remaining 21 sessions, sodium morrhuate 5% alone was used. Conventional coagulation tests did not change significantly after EVS, regardless of the type of treatment. Basal plasma FPA levels were abnormally high in about 50% of patients. After EVS, plasma FPA increased sharply in 37/39 patients (95%), returning to baseline values in most of them within 24 h. We conclude that transient systemic activation of blood coagulation occurs after EVS. Such activation can be detected only by sensitive methods such as FPA assay, and has no effect on conventional coagulation tests. This, and the absence of any clinical EVS-related coagulation disorder in our patients, suggests that activation of coagulation should not be a major concern for patients undergoing EVS.
Adult↗
A freeze-fracture study of the enteropathy associated with dermatitis herpetiformis: a comparative investigation with coeliac disease.
Jejunal biopsies from patients with either dermatitis herpetiformis or coeliac disease were freeze-fractured and compared with normal jejunal biopsies. The intestinal mucosa of the normal biopsies showed a normal structure, with well-developed and tightly packed microvilli; in dermatitis herpetiformis and coeliac disease degenerative changes of the intestinal mucosa occurred. These changes appeared to be segmental in dermatitis herpetiformis and diffuse in coeliac disease. Emphasis is placed on changes in the tight junctional net at the base of the microvilli, which could represent cellular damage related to increased intestinal permeability to macromolecules in these diseases. An interpretative hypothesis for these observations is presented.
Biopsy↗
[Natural history of the state of asymptomatic carrier of HBsAg: 7-year follow-up].
UNLABELLED: Ninety-six chronic asymptomatic HBsAg carriers underwent liver biopsy. Liver histology was normal in 5 cases, showed nonspecific changes in 67, chronic persistent hepatitis in 18, and chronic-active hepatitis in 6. Seventy-four patients were followed for up to 105 months (mean 80 months) in order to evaluate the occurrence of clinical, biochemical, serological or histological changes. Only two patients cleared the HBsAg, respectively 10 and 96 months after undergoing liver biopsy; the latter patient became anti-HBs positive 6 months after he cleared HBsAg. All 10 patients who initially were negative for both HBeAg and anti-HBe became anti-HBe positive during follow-up. All 4 patients who were HBeAg positive at the time of liver biopsy cleared HBeAg 6 to 39 months thereafter. Two of them became anti-HBe positive. None of the patients initially HBeAg negative became positive for this antigen during follow-up. Significant increases of serum transaminases were observed in 5 patients; in one superinfection by delta agent was documented, the other 4 being constantly anti-delta negative. Three of the latter patients underwent repeat liver biopsy, which showed progression from minimal changes to chronic persistent hepatitis in one, and from minimal changes to chronic active hepatitis in another. In the third patient, repeat biopsy showed persistence of chronic persistent hepatitis. IN CONCLUSION: chronic hepatitis occurs in about 25% of chronic asymptomatic HBsAg carriers; clearance of HBsAg is a rare event among these patients; the HBe system has little diagnostic or prognostic value; delta superinfection is rare; however, deterioration of liver histology may occur even in the absence of delta superinfection.
Adolescent↗