Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

Pathogenic variants of collagen type IV alpha 1 and 2 (COL4A1/COL4A2) genes cause various phenotypic anomalies, including intracerebral hemorrhage and a wide spectrum of developmental anomalies. Only 20% of fetuses referred for COL4A1/COL4A2 molecular screening (fetuses with a suspected intracerebral hemorrhage) carry a pathogenic variant in these genes, raising questions regarding the causative anomaly in the remaining 80% of these fetuses. We examined, following termination of pregnancy or in-utero fetal death, a series of 113 unrelated fetuses referred for COL4A1/COL4A2 molecular screening, in which targeted sequencing was negative. Using exome sequencing data and a gene-based collapsing test, we searched for enrichment of rare qualifying variants in our fetal cohort in comparison to the Genome Aggregation Database (gnomAD) control cohort (n = 71 702). Qualifying variants in pyruvate dehydrogenase E1 subunit alpha 1 (PDHA1) were overrepresented in our cohort, reaching genome-wide significance (P = 2.11 × 10-7 ). Heterozygous PDHA1 loss-of-function variants were identified in three female fetuses. Among these three cases, we observed microcephaly, ventriculomegaly, germinolytic pseudocysts, agenesis/dysgenesis of the corpus callosum and white-matter anomalies that initially suggested cerebral hypoxic-ischemic and hemorrhagic lesions. However, a careful a-posteriori reanalysis of imaging and postmortem data showed that the observed lesions were also consistent with those observed in fetuses carrying PDHA1 pathogenic variants, strongly suggesting that these two phenotypes may overlap. Exome sequencing should therefore be performed in fetuses referred for COL4A1/COL4A2 molecular screening which are screen-negative, with particular attention paid to the PDHA1 gene. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.

OBJECTIVE: To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. METHODS: This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender. RESULTS: Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03). CONCLUSIONS: A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Incidence and surgical treatment of synthetic mesh-related infectious complications after laparoscopic ventral rectopexy.

BACKGROUND: Prosthetic-related infection and erosion occurring after a laparoscopic ventral rectopexy (LVR) are rare complications, and their importance is often underestimated. The aim of this study was to compare the incidence rate and surgical management of these complications in LVR patients with polyester (PE) or polypropylene (PP) prostheses. METHODS: From January 2004 to June 2012, 149 patients underwent LVR with PE and 176 underwent LVR with PP. Surgical management and rate of infectious and erosive prosthesis-related complications, depending on the type of prosthesis, were described and compared. Functional results after complications were assessed. RESULTS: Five patients from the PE prosthesis group (3.3 %), compared with two patients from the PP prosthesis group (1.1 %), experienced prosthesis-related infection or erosion (p = 0.16). The rate of erosion alone was 3.3 % in patients with a PE prosthesis, and 0.55 % in patients with a PP prosthesis (p = 0.06). The average time until clinical diagnosis of a prosthesis-related complication was identical for both groups: 31 months (range 3-62 months). All patients underwent surgical removal of the prosthesis: For the five patients from the PE group, complete removal was performed by laparoscopy associated with a transanal procedure. For the two patients in the PP mesh group, laparoscopy was ineffective in removing the mesh which was partially removed through a subsequent transanal procedure. None of the patients had a protective stoma, and in all patients the complication had resolved 12 months after removal. Only one patient had worsening functional symptoms (fecal incontinence) after prosthesis removal. CONCLUSIONS: When a prosthesis-related infection or erosion occurs, treatment consists in the surgical removal of the prosthesis by laparoscopy/and/or a transanal procedure. Functional symptoms do not routinely recur after prosthesis removal.

Decentralising tuberculosis case management in two districts of Burkina Faso.

SETTING: In West Africa, national tuberculosis programmes (NTPs) face many problems due to the low performance of health care delivery systems and patients' social and cultural environment. OBJECTIVE: To improve the case management of TB in Burkina Faso. DESIGN: Using the operational research process as a tool, TB case management was decentralised from the district hospital to eight primary health care centres in 2003. RESULTS: Twelve months after decentralisation, the quality of case detection remained satisfactory. The delay between the identification of TB suspects with chronic cough and the confirmation of TB was reduced from 13 to 6 days. The detection rate of TB suspects during the study (30%) was twice as high as for 2001 and 2002 (15%). However, the detection rate for smear-positive TB cases decreased from 32.3% in 2001 and 2002 to 6.5% during the year of the study. CONCLUSION: Sufficient time and commitment are essential to obtain a case management system that is decentralised and effective. Efforts therefore need to continue to obtain more information and better results.

Cholesterol turnover in human plasma lipoproteins: studies with stable and radioactive isotopes.

The kinetics of cholesterol labeling was studied in the plasma lipoproteins of three subjects who had received an oral dose of octadeuterated cholesterol and an intravenous administration of 3H-cholesterol and 14C-mevalonate or 13C-acetate. After each labeled cholesterol pulse into the plasma (absorption, exchange, or synthesis), the isotopic concentrations of free and esterified cholesterol became identical after 120 h. Before this time, very low-density lipoprotein free cholesterol appeared more easily exchangeable than high-density and low-density lipoprotein free cholesterol, high-density lipoproteins were shown to be a source for very low-density lipoprotein cholesterol esters and the role of very low-density lipoproteins associated with chylomicrons was demonstrated in the initial transport of dietary cholesterol. The rates of the various processes involved in cholesterol turnover were calculated. The total cholesterol inflow into the plasma by absorption and synthesis, determined by long-term kinetic data (18 or 28 wk) was consistent with the result obtained by sterol balance for the total cholesterol outflow from the plasma (fecal excretion and conversion into bile acids).

Comparison of two sucralfate dosages presented in tablet form in duodenal ulcer healing.

Two hundred twenty-two patients with endoscopically proven duodenal ulcers participated in a controlled trial to assess and compare the effects of two dosage regimens of sucralfate tablets on ulcer healing, i.e., 1 g four times daily (group A, n = 131) and 2 g twice daily (group B, n = 128). Healing was defined as complete re-epithelialization. Clinical and endoscopic assessments were performed after four weeks (Day 28) and, if complete healing was not achieved, after four more weeks (Day 56). After four weeks, in group A (n = 114: eight patients were lost and nine were withdrawn), the ulcers had healed in 90 patients (79 percent), and in group B (n = 108: six patients were lost and 14 were withdrawn), the ulcers had healed in 80 patients (74 percent). The cumulative healing rates after eight weeks were 94 percent in group A and 95 percent in group B. No serious adverse effect was observed in either group. These results suggest that sucralfate tablets in a dosage of 2 g twice daily are as effective as 1 g four times daily in the treatment of acute duodenal ulcers and could lead to better patient compliance.

The effects ex vivo and in vitro of insulin and C-peptide on Na/K adenosine triphosphatase activity in red blood cell membranes of type 1 diabetic patients.

The decrease in Na/K adenosine triphosphatase (ATPase) activity observed in several tissues of type 1 diabetic patients is thought to play a role in the development of long-term complications. Infusion of insulin may restore this enzyme activity in red blood cells (RBCs), and recent arguments have been developed for a similar role of C-peptide. The aims of this study were to determine whether insulin acts directly on the RBC enzyme and to evaluate the effect of C-peptide on Na/K ATPase activity. Thirty-nine C-peptide-negative type 1 diabetic patients were studied (blood glucose, 11.2 +/- 1.49 mmol/L; hemoglobin A1c [HbA1c], 8.9% +/- 0.1%, mean +/- SEM). Blood samples were obtained in the morning, before breakfast and insulin injection. Intact and living RBCs were resuspended in their own plasma and incubated with or without insulin (50 microU/mL) or C-peptide (6 nmol/L). Ex vivo by microcalorimetry, the heat produced after 1 hour by the enzyme-induced hydrolysis of adenosine triphosphate (ATP), was measured in a thermostated microcalorimeter at 37 degrees C. The results showed that Na/K ATPase activity was significantly increased by insulin (12.4 +/- 0.5 v 15.4 +/- 0.9 mW/L RBCs, P < .05, n = 23) but not by C-peptide (11.9 +/- 0.7 v 12.9 +/- 0.9 mW/L RBCs, NS, P = .26, n = 12). In another experiment, RBC suspensions were incubated at 37 degrees C in a water bath with or without insulin (50 microU/mL) or C-peptide (6 nmol/L) for 10 minutes. RBC membranes were isolated and Na/K ATPase activity was assessed by measuring inorganic phosphate release at saturating concentrations of all substrates. The results showed that insulin and C-peptide significantly increased RBC Na/K ATPase activity (342 +/- 25, P < .005 and 363 +/- 30, P < .005, respectively v255 +/- 22 nmol Pi x mg protein(-1) x h(-1), n = 14). We conclude that insulin and C-peptide act directly on RBC Na/K ATPase, thus restoring this activity in type 1 diabetic patients. The stimulatory effect of C-peptide observed in vitro on RBC Na/K ATPase activity confirms that C-peptide plays a physiological role.

Genetic and environmental regulation of Na/K adenosine triphosphatase activity in diabetic patients.

Even if the pathogenesis of diabetic neuropathy is incompletely understood, an impaired Na/K adenosine triphosphatase (ATPase) activity has been involved in this pathogenesis. We previously showed that a restriction fragment length polymorphism (RFLP) of the ATP1-A1 gene encoding for the Na/K ATPase's alpha 1 isoform is associated with a low Na/K ATPase activity in the red blood cells (RBCs) of type 1 diabetic patients. We thus suggested that the presence of the variant of the ATP1A1 gene is a predisposing factor for diabetic neuropathy, with a 6.5% relative risk. Furthermore, there is experimental evidence showing that lack of C-peptide impairs Na/K ATPase activity, and that this activity is positively correlated with C-peptide level. The aim of this study was to evaluate the respective influence of genetic (ATP1-A1 polymorphism) and environmental (lack of C-peptide) factors on RBC's Na/K ATPase activity. Healthy and diabetic European and North African subjects were studied. North Africans were studied because there is a high prevalence and severity of neuropathy in this diabetic population, and ethnic differences in RBC's Na/K ATPase activity are described. In Europeans, Na/K ATPase activity was significantly lower in type 1 (285 +/- 8 nmol Pi/mg protein/h) than in type 2 diabetic patients (335 +/- 13 nmol Pi/mg protein/h) or healthy subjects (395 +/- 9 nmol Pi/mg protein/h). Among type 2 diabetic patients, there was a significant correlation between RBC's Na/K ATPase activity and fasting plasma C-peptide level (r = 0.32, P <.05). In North Africans, we confirm the ethnic RBC's Na/K ATPase activity decrease in healthy subjects (296 +/- 26 v 395 +/- 9 nmol Pi/mg protein/h, r < 0.05), as well as in type 1 diabetic patients (246 +/- 20 v 285 +/- 8 nmol Pi/mg protein/h; P <.05). However, there is no relationship between the ATP1A1 gene polymorphism and Na/K ATPase activity. ATP1A1 gene polymorphism could not explain the ethnic difference. We previously showed that Na/K ATPase activity is higher in type 1 diabetic patients without the restriction site on ATP1A1 than in those heterozygous for the restriction site. This fact was not observed in healthy subjects. In type 2 diabetic patients, association between ATP1A1 gene polymorphism and decreased enzyme activity was found only in patients with a low C-peptide level. Therefore, the ATP1-A1 gene polymorphism influences Na/K ATPase activity only in case of complete or partial C-peptide deficiency, as observed in type 1 and some type 2 diabetic patients, without any correlation with hemoglobin A1c (HbA1c). Correlation observed between C-peptide levels and RBC's Na/K ATPase suggests that the deleterious effect of C peptide deficiency on Na/K ATPase activity is worse in the presence of the restriction site. This may explain the high relative risk of developing the neuropathy observed in type 1 diabetic patients bearing the variant allele.

APACC, a French prospective study on aspirin efficacy in reducing colorectal adenoma recurrence: design and baseline findings.

UNLABELLED: Colorectal cancer is the second most frequent cause of death from cancer in western countries. Many lines of evidence suggest that non-steroidal anti-inflammatory drugs (NSAIDs) may offer chemoprevention against colorectal cancer. A multicentre, double-blind, randomized, controlled trial is underway to determine the efficacy of regular aspirin intake (160 or 300 mg/day) in reducing colorectal adenoma recurrence. We now report the baseline characteristics of subjects enrolled into the trial. RESULTS: A total of 618 polyps were excised from 274 patients at the baseline colonoscopy. Men had on average (+/-SD) 2.5 +/- 1.8 polyps per subject and women had 1.7 +/- 1.2. Ninety-one (33.7%) had three or more adenomas and 183 (67.8%) had more than one adenoma measuring 10 mm or more in diameter. The mean (+/-SD) age of the subjects was 57.7 (+/- 9.4) years. Sixty-seven (24.9%) reported that they had previously had adenoma(s), 95 (35.2%) reported a family history of colorectal cancer and 41 (15.2%) a family history of colorectal adenomas. PERSPECTIVE: All subjects will undergo a one-year clearance colonoscopy by February 2001. Clinical, molecular biological and dietary data will enable us to investigate other factors influencing the recurrence of adenomas in this group of high-risk subjects.

Beneficial effects of gamma linolenic acid supplementation on nerve conduction velocity, Na+, K+ ATPase activity, and membrane fatty acid composition in sciatic nerve of diabetic rats.

Metabolic and vascular abnormalities are implicated in the pathogenesis of diabetic neuropathy. Two principal metabolic defects are altered lipid metabolism resulting from the impairment of delta-6-desaturase, which converts linoleic acid (LA) into gamma linolenic acid (GLA), and reduced nerve Na+, K+ ATPase activity. This reduction may be caused by a lack of incorporation of (n-6) fatty acids in membrane phospholipids. Because this ubiquitous enzyme maintains the membrane electrical potential and allows repolarization, disturbances in its activity can alter the process of nerve conduction velocity (NCV). We studied the effects of supplementation with GLA (260 mg per day) on NCV, fatty acid phospholipid composition, and Na+, K+ ATPase activity in streptozotocin-diabetic rats. Six groups of 10 rats were studied. Two groups served as controls supplemented with GLA or sunflower oil (GLA free). Two groups with different durations of diabetes were studied: 6 weeks with no supplementation and 12 weeks supplemented with sunflower oil. To test the ability of GLA to prevent or reverse the effects of diabetes, two groups of diabetic rats were supplemented with GLA, one group for 12 weeks and one group for 6 weeks, starting 6 weeks after diabetes induction. Diabetes resulted in a 25% decrease in NCV (P < 0.0001), a 45% decrease in Na+, K+ ATPase activity (P < 0.0001), and an abnormal phospholipid fatty acid composition. GLA restored NCV both in the prevention and reversal studies and partially restored Na+, K+ ATPase activity in the preventive treatment group (P < 0.0001). These effects were accompanied by a modification of phospholipid fatty acid composition in nerve membranes. Overall, the results suggest that membrane fatty acid composition plays a direct role in NCV and confirm the beneficial effect of GLA supplementation in diabetic neuropathy.

Relationship between neuropathy, hypertension and red blood cell Na/K ATPase in patients with insulin-dependent diabetes mellitus.

Hypertension has been proposed as an independent risk factor for diabetic neuropathy. In insulin-dependent diabetic (IDDM) patients suffering from neuropathy, red blood cell (RBC) Na/K ATPase is decreased. Such a decrease might be involved in the physiopathology of hypertension and therefore be the link between hypertension and neuropathy. To confirm this hypothesis, we studied 104 IDDM patients with a long duration of disease by looking at the association between neuropathy and hypertension and by comparing RBC Na/K ATPase activity in subgroups. The independent risk factors associated with neuropathy were hypertension, triglyceride level, diabetes duration and low RBC Na/K ATPase activity. Contrary to our expectations, Na/K ATPase was not decreased in hypertensive patients (294 +/- 16 nmol Pi/mg prot/h vs 303 +/- 9), but those treated with angiotensin converting enzyme (ACE) inhibitor had higher RBC Na/K ATPase activity than those treated with calcium blockers (355 +/- 15 nmol Pi/mg prot/h vs 216 +/- 10). These results confirm the association between neuropathy and hypertension, on the one hand, and neuropathy and decreased Na/K ATPase, on the other, and show that hypertension in IDDM patients was not associated with decreased RBC Na/K ATPase. Moreover, ACE inhibitor treatment in IDDM patients, whether hypertensive or not, was associated with higher levels of RBC Na/K ATPase, which could account for its beneficial effect on diabetic neuropathy.

Prevalence of cryoglobulins and hepatitis C virus infection in HIV-infected patients.

PURPOSE AND METHODS: In order to evaluate the prevalence of positive hepatitis C virus (HCV) serology and cryoglobulinemia in human immunodeficiency virus (HIV)-infected patients, the prevalence and the clinical significance of cryoglobulinemia were prospectively studied in a cohort of 86 HIV-infected subjects seen as outpatients. They were compared to a control group consisting of 101 HIV-HCV+ patients being followed at the same hospital. RESULTS: HCV serology was positive in 53/86 (61.6%) patients, 25 (47.2%) of whom had detectable cryoglobulins in their sera although only 1 had clinical symptoms consistent with cryoglobulinemia. Cryoglobulinemia was also detected in 9/33 (27.3%) HCV- patients, with only one of them presenting clinical symptoms. Although the mean cryoglobulin concentration was lower for HIV+ patients than in controls (268 versus 585 mg/l, p < 0.01), their prevalence (39.5% and 27.2%, respectively) was higher (p < 0.03). CONCLUSION: Cryoglobulinemia is frequently detected in HIV-infected patients, regardless of their HCV serology, but is poorly correlated with clinical symptoms.

Effect of the aldose reductase inhibitor tolrestat on nerve conduction velocity, Na/K ATPase activity, and polyols in red blood cells, sciatic nerve, kidney cortex, and kidney medulla of diabetic rats.

Long-term prospective studies comparing the effects of conventional and intensive insulin therapy have linked diabetic hyperglycemia to the development of diabetic retinopathy, nephropathy, and neuropathy. The mechanisms through which glucose metabolism leads to the development of these secondary complications, however, are incompletely understood. In animal models of diabetic neuropathy, the loss of nerve function in myelinated nerve fibers has been related to a series of biochemical changes. Nerve glucose, which is in equilibrium with plasma glucose levels, rapidly increases during diabetic hyperglycemia because glucose entry is independent of insulin. This excess glucose is metabolized in large part by the polyol pathway. Increased flux through this pathway is accompanied by the depletion of myo-inositol, a loss of Na/K ATPase activity and the accumulation of sodium. Supportive evidence linking these biochemical changes to the loss of nerve function has come from studies in which aldose reductase inhibitors block polyol pathway activity, prevent the depletion of myo-inositol and the accumulation of sodium and preserve Na/K ATPase activity, as well as nerve function. The kidney and red blood cells (RBCs) are two additional sites of diabetic lesions that have been reported to develop biochemical changes similar to those in the nerve. We observed that polyol levels in the kidney cortex, medulla, and RBCs increased two- to ninefold in rats following 10 weeks of untreated diabetes. Polyol accumulation was accompanied by a 30% decrease in myo-inositol levels in the kidney cortex, but no change in RBCs or the kidney medulla. Na/K ATPase activity was decreased by 59% in RBCs but was unaffected in the kidney cortex or medulla. Aldose reductase inhibitor treatment that preserved myo-inositol levels, Na/K ATPase, and conduction velocity in the sciatic nerve also preserved Na/K ATPase activity in RBCs. Our results suggest that the pathophysiologic mechanisms underlying diabetic neuropathy are different from those of diabetic nephropathy. Our results also suggest that RBCs maybe a surrogate tissue for the assessment of diabetes-induced changes in nerve Na/K ATPase activity.

[Antigens A and B of the HLA system in dilated cardiomyopathies related to alcohol]. / Etude des antigènes A et B du système HLA dans les myocardiopathies dilatées liées à l'alcool.

It has been hypothesized that dilated cardiomyopathy (DCM) is of dysimmune origin. Conventional immunological studies have provided no evidence that a primary disregulation of immune mechanisms is involved. In the present study, the possibility of an individual predisposition to DCM resting on a preferential distribution of HLA system antigens has been investigated. Typing of the HLA system antigens A and B was performed in a group of 38 DCM patients who were heavy drinkers. The results were compared with those obtained in: (a) 57 alcoholic patients without cardiopathy, and (b) a population of 306 healthy subjects. All subjects were caucasians. Compared with alcoholic patients without cardiac disease, DCM patients had a prevalence of B8 allele. The relative risk of developing DCM was 2.83 in the presence of the B8 antigen. This result suggests a genetic predisposition to DCM: the B8 allele, prevalent among our patients, is associated with the phenotype of numerous autoimmune diseases. This study therefore supports the theory that DCM is of dysimmune origin, but this must be confirmed by further investigations conducted on a larger number of cases.

[Obstructive jaundice caused by granulomatous stenosis of the extrahepatic bile ducts in sarcoidosis]. / Ictère obstructif par sténose granulomateuse des voies biliaires extra-hépatiques au cours d'une sarcoïdose.

A 37-year-old black West Indian woman with sarcoidosis developed obstructive jaundice due to stenosis involving the entire length of the common hepatic bile duct associated with stenosis of the cystic duct. Neither gallstones nor extrahepatic biliary tract lymph node involvement were found. Stenosis was ascribed to biliary involvement of sarcoidosis because of the presence of noncaseating granulomas in the cystic duct and the gallbladder neck. There was no hepatic involvement. Cholecystectomy and left hepaticojejunostomy were performed. Postoperative recovery was unremarkable. Jaundice disappeared and liver tests returned to normal values. This case report underlines the importance of verifying the patency of the extrahepatic biliary tract before severe cholestasis can be ascribed to intrahepatic involvement of sarcoidosis.

[Prevalence and risk factors of hepatitis C virus infection in a hospitalized population in a gastroenterology unit. Role of endoscopic biopsies]. / Prévalence et facteurs de risque de l'infection par le virus de l'hépatite C dans une population hospitalisée en Gastroentérologie. Rôle des biopsies per-endoscopiques.

OBJECTIVES AND METHODS: In order to study the prevalence and risk factors of HCV infection in a population hospitalized in a Gastroenterology Unit, 3,767 patients were tested for serum anti-HCV, and 2,607 filled out a questionnaire about risk factors. RESULTS: With the RIBA 2 test, the overall prevalence was 5.9%. Because of the age distribution, two populations were studied. In patients younger than 45, intravenous drug use was the only independent risk factor linked to serum anti-HCV positivity (Odds ratio: 151, CI 95%: 66.9-340). In patients older than 45, the independent risk factors were chronic liver disease (Odds ratio: 8.5, CI 95%: 4.4-16.8), per-endoscopic biopsies (Odds ratio: 2.7, CI 95%: 1.4-5.4), and blood transfusions (Odds ratio: 1.8, CI 95%: 0.9-3.5). Two variables were dominant for the entire population: IV drug use and chronic liver disease. In patients without these factors, only one risk factor was linked to serum anti-HCV positivity: perendoscopic biopsies (Odds ratio: 5.2, CI 95%: 1.6-16.5). CONCLUSION: These results suggest that HCV may be transmitted by perendoscopic biopsies.

[Mesenteric panniculitis simulating Crohn disease]. / Panniculite mésentérique simulant une maladie de Crohn.

Mesenteric panniculitis is a rare disease involving the adipose tissue of the mesentery. We report a case of a 27-year-old woman with mesenteric panniculitis, who presented clinical and radiological features mimicking Crohn's disease. In the outcome, she presented a small bowel perforation, unusual in this pathology, and an annexial involvement. This case reminds us of the role of sepsis and repeated abdominal surgery in relation to the pathogenesis of mesenteric panniculitis. We report the first case of mesenteric panniculitis mimicking Crohn's disease.

[Treatment with octreotide of stenosing cystic dystrophy on heterotopic pancreas of the duodenal wall]. / Traitement par l'octréotide d'une dystrophie kystique sténosante sur pancréas aberrant de la paroi duodénale.

Cystic dystrophy of the duodenal wall developing in heterotopic pancreas is a rare disease. Weight loss and painless vomiting due to duodenal stenosis where the main clinical manifestations of this entity in a chronic alcoholic patient. Diagnosis was made by using an ultrasonic-endoscope equipped with a miniprobe. Although surgical treatment is usually recommended in this situation, the clinical condition of this patient improved dramatically after subcutaneous injections of somatostatin analog (octreotide). This treatment was maintained during 9 months and no recurrence was observed during the follow-up period.

[Effectiveness and safety of lansoprazole in the treatment of Zollinger-Ellison syndrome. First six months of treatment]. / Efficacité et tolérance du lansoprazole dans le traitement du syndrome de Zollinger-Ellison. Etude sur les six premiers mois de traitement.

OBJECTIVES: The aim of this prospective study was to confirm the efficacy and safety of lansoprazole in patients with Zollinger-Ellison syndrome (ZES). METHODS: Fourteen patients (5 W, 9 M) with ZES, age (mean +/- SD) 55.5 +/- 12.8 years, were included in the study. STUDY DESIGN: initially and at 1, 3 and 6 months thereafter the following items were assessed: clinical signs, fasting serum gastrin (FSG), basal acid output (BAO) before next dose of lansoprazole. BAO < 10 mmol H+/h was considered as efficient. Initially and at 6 months, laboratory tests (hematology, liver, renal and hormonal), endoscopy and histological enterochromaffin-like cell and gastrin cell density assessments were performed. Lansoprazole initial dose was adjusted according to clinical symptoms and secretory studies. RESULTS: At 6 months, lansoprazole doses of 60, 90, 120 and 180 mg/d maintained BAO < 10 mmol H+/h in 9, 2, 1 and 1 patient, respectively. No significant changes in FSG, endocrine cells densities and biological parameters were noted during treatment. Neither adverse events nor carcinoid tumors were observed. We conclude that lansoprazole is efficient and well tolerated in patients with ZES.

[Diet and rectocolonic cancers. Results of a case-control study]. / Alimentation et cancers recto-coliques. Résultats d'une étude "cas-témoin".

In a case-control study performed in an hospital of the North-Eastern Paris area, nutritional intakes of 94 patients with colorectal carcinoma were compared with those of 94 control patients, matched for age and sex. Results were expressed as mean daily nutrients and energy intakes. This dietary survey covered the "present period" (i.e. prior to the hospitalisation) and the "past-period" in case of striking and prolonged changes in dietary habits. Whatever the site of carcinoma (the rectum and sigmoid or the remaining colon) there was no statistically significant difference between patients and controls (in both sexes) for the following parameters: a) total energy intake, b) proportions of lipids, proteins and fat expressed as percentages of total energy intake, c) minerals, d) vitamins and e) dietary fibers. In women with colorectal carcinoma, a decrease in alcohol and lipid consumptions was observed. In patients with rectal or sigmoid carcinoma past alcoholic intakes were higher in both sexes. These results do not allow any clear epidemiological conclusion. In spite of their cost and length prospective studies are probably the only way to answer the difficult question of which dietary factors may be found in colorectal carcinoma.