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Few data are available to describe the changes in incidence of pediatric-onset inflammatory bowel disease (IBD). The aim of this study was to describe changes in incidence and phenotypic presentation of pediatric-onset IBD in northern France during a 24-year period.Pediatric-onset IBD (17 years) was issued from a population-based IBD study in France between 1988 and 2011. Age groups and digestive location were defined according to the Paris classification.1,350 incident cases were recorded (8.3% of all IBD) including 990 Crohn's disease (CD), 326 ulcerative colitis (UC) and 34 IBD unclassified (IBDU). Median age at diagnosis was similar in CD (14.4 years (Q1=11.8-Q3=16.0)) and UC (14.0 years (11.0-16.0)) and did not change over time. There were significantly more males with CD (females/males=0.82) than UC (females/males=1.25) (P=0.0042). Median time between onset of symptoms and IBD diagnosis was consistently 3 months (1-6). Mean incidence was 4.4/10In this population-based study, CD and UC incidences increased dramatically in adolescents across a 24-year span, suggesting that one or more strong environmental factors may predispose this population to IBD.

Objective: To investigate the relationship between frailty and sarcopenia, by evaluating the prevalence of sarcopenia among frail, pre-frail and robust elderly nursing home residents in Belgium. Methods: This is an analysis of baseline data collected from the SENIOR (Sample of Elderly Nursing home Individuals: an Observational Research) cohort. All subjects received a sarcopenia evaluation, based on the definition proposed by the European Working Group on Sarcopenia in Older People (EWGSOP). The frailty evaluation was primarily based on FRIED’s definition but also on 9 other operational definitions. Results: A total of 662 subjects (73.1% of women) were included in this analysis (mean age: 83.2±8.99 years). The prevalence of sarcopenia was 38.1% whereas the prevalence of frail and pre-frail persons was respectively 24.7% and 61.4%. Among frail, pre-frail and robust subjects, respectively 47%, 38.9% and 16.3% were diagnosed sarcopenic. The prevalence of sarcopenia according to ten different operational definitions of frailty ranged between 32.8 % (i.e. Frail scale Status and Frailty Index) and 47% (i.e. Fried definition). Conclusion: This research highlights that over a third of nursing home residents are sarcopenic and the percentage is almost 50% among frail subjects; those latter constitute about 1 in 4 of the population of nursing home residents studied here.

To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP).Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy with histopathology examination, and therapeutic modalities were reviewed.A total of 70 children from 47 families were included. When initial consultation resulted from a surveillance program because of an affected family member, 12 of 59 children were already symptomatic. Among 11 patients whose initial consultation was based only on symptoms, families were unaware at the time of a familial FAP history for 7 children, whereas only 4 cases were sporadic. A panel of 27 different pathogenic adenomatous polyposis coli (APC) germ-line mutations and large genomic deletions were identified in 43 families. Extracolonic manifestations were found in half of the patients. As part of the standard practice for initial screening, the entire cohort underwent colonoscopy, which revealed adenoma above an intact rectosigmoid in 8 cases. Prophylactic colectomy was performed in 42 cases; high-grade dysplastic adenoma and 1 invasive carcinoma were detected in 6 children. For timing of surgery, indications were in accordance with recent international guidelines.Defining optimal screening and therapeutic modalities in pediatric FAP cohorts is a challenge. Specific advice for genetic screening, endoscopy surveillance, and type of surgery based on recent guidelines is recommended.

In the last decade, genome sequence data and gene structure information on invertebrate receptors has been greatly expanded by large sequencing projects and cloning studies. This information is of great value for the identification of receptors; however, functional and pharmacological data are necessary for an accurate receptor classification and for practical applications. In insects, an important group of neurotransmitter and neurohormone receptors, for which ample sequence information is available but pharmacological information is missing, are the biogenic amine G protein-coupled receptors (GPCRs). In the present study, we investigated the sequence information, pharmacology and signalling properties of a 5-HT7 -type serotonin receptor from the red flour beetle, Tribolium castaneum (Trica5-HT7 ). The receptor encoding cDNA shows considerable sequence similarity with cognate 5-HT7 receptors and phylogenetic analysis also clusters the receptor within this 5-HT receptor group. Real-time reverse transcription PCR demonstrated high expression levels in the brain, indicating the possible importance of this receptor in neural processes. Trica5-HT7 was dose-dependently activated by 5-HT, which induced elevated intracellular cyclic AMP levels but had no effect on calcium signalling. The synthetic agonists, α-methyl 5-HT, 5-methoxytryptamine, 5-carboxamidotryptamine and 8-hydroxy-2-(dipropylamino)tetralin hydrobromide, showed a response, although with a much lower potency and efficacy than 5-HT. Ketanserin and methiothepin were the most potent antagonists. Both showed characteristics of competitive inhibition on Trica5-HT7 . The signalling pathway and pharmacological profile offer important information that will facilitate functional and comparative studies of 5-HT receptors in insects and other invertebrates. The pharmacology of invertebrate 5-HT receptors differs considerably from that of vertebrates. The present study may therefore contribute to establishing a more reliable classification of invertebrate 5-HT receptors.

Surface Plasmons Resonance (SPR) architectures involving multi-wavelength interrogation are an attractive alternative for droplet biosensing. We present our results for in situ measurements of biological molecules with a two-wavelength sensor and a SPR Coupler-Disperser spectroscopic sensor.

The aim of this study was to evaluate the performance of a newly developed enzyme immunoassay kit (HpSA) for detecting Helicobacter pylori antigens in the stool of children. This study was comprised of 58 children referred to various endoscopy units for evaluation of gastrointestinal symptoms and upper gastroduodenal endoscopy and 11 children for post-therapy follow-up. In the first group, 23 children were diagnosed as positive for Helicobacter pylori using bacteriological and/or histological methods. Stool antigens were detected in 20 of these positive patients, for a sensitivity of 86.9% and a negative predictive value of 91.9%. Since only one false-positive reaction was observed with the HpSA kit, the specificity was 97.1% and the positive predictive value 95.2%. Results obtained for post-therapy follow-up were also promising. The HpSA assays were negative for the eight children whose infections were eradicated after therapy, and a positive result was obtained for two of three patients who had a persistent infection.

The present report describes AIRE gene analysis in 25 children with autoimmune hepatitis type I or II. The heterozygous transversion c.961C > G (p.Ser278Arg) located in exon 7 was identified in 4 patients with autoimmune hepatitis type I, and mostly in those presenting with a positive family history for autoimmune diseases. In this subgroup of patients, the allelic frequency of this polymorphic variant was at least 3-fold higher than in healthy controls. These results suggest that heterozygous AIRE gene mutation may represent a genetic predisposition to childhood autoimmune hepatitis type I.

AIM: This study aimed to test the efficacy of mesalazine in maintaining remission in pediatric Crohn's disease (CD) following successful flare-up treatment. METHODS: In this double-blind, randomized, placebo-controlled trial, 122 patients received either mesalazine 50mg/kg per day (n=60) or placebo (n=62) for one year. Treatment allocation was stratified according to flare-up treatment (nutrition or medication alone). Recruitment was carried out over two periods, as the first period's results showed a trend favoring mesalazine. Relapse was defined as a Harvey-Bradshaw score more than or equal to 5. Time to relapse was analyzed using the Cox model. RESULTS: The one-year relapse rate was 57% (n=29) and 63% (n=35) in the mesalazine and placebo groups, respectively. We demonstrated a twofold lower relapse risk (P

Infliximab, a monoclonal antibody against tumor necrosis factor-alpha, has been shown to be effective for the treatment of refractory Crohn's disease in adult patients, but experience in pediatrics is limited. This retrospective study included 88 children and adolescents, 39 girls and 49 boys, with a median age of 14 years (range 3.3-17.9). Infliximab was indicated for active disease (66%) and/or fistulas (42%) that were refractory to corticosteroids (70%), and/or other immunosuppressive (82%) agents, and/or parenteral nutrition (20%). Patients received 1 to 17 infusions (median 4) of 5 mg/kg (range 3.8-7.3) of infliximab during a median time period of 4 months (1-17 months). Infusion reaction was noted in 13 patients (15%), with a total of 16 reactions in 450 infusions (4%). At Day 90 after the first infusion of infliximab, symptoms improved in 49% of patients, whereas 29% of patients were in remission and 13% of patients relapsed. From Day 0 to Day 90, Harvey-Bradshaw score decreased from 7.5 to 2.8 (P < 0.001), C-reactive protein from 36 to 16 mg/L (P < 0.01), and 1-hour erythrocyte sedimentation rate from 35 to 17 mm (P < 0.01). Dosage of corticosteroids decreased from to 0.59 to 0.17 mg/kg/d (P < 0.001); 53% of patients could be weaned of corticosteroids and 92% of parenteral nutrition. Treatment with infliximab is well tolerated and effective in most children and adolescents with Crohn's disease that is refractory to conventional immunosuppressive therapy. Nevertheless, long-term efficacy remains to be shown, and further studies are urgently needed to precisely determine the best modality of continuing treatment.

Objective To investigate routine ultrasonography (US) as an early marker and to identify risk factors for the development of cirrhosis and portal hypertension (PHT) in cystic fibrosis (CF). Study design A cohort of 106 children with CF aged 5.9±2.3 years were followed for 10.4±0.2 years in a CF clinic. Results At enrollment, the US was normal, but biochemical and/or clinical disease was present in 10%. By the end of the study, 19 had developed US changes, eight with evidence of PHT. At the time of the initial US change, only 36.4% of those had, at the end of the study, either a heterogeneous or a nodular parenchyma, and only 50% of those with PHT had biochemical and/or clinical disease. Of the 30 patients treated with ursodeoxycholic acid for biochemical and/or clinical disease with (n = 15) and without (n = 15) associated US changes, PHT developed in six of the former and two of the latter. Univariate analysis and logistic regression showed that children with more severe disease in terms of forced expiratory volume in one second were at somewhat greater risk ( P Conclusion US was an early marker of liver disease and more severe CF disease, a predictor of progressive liver disease. A controlled trial should be done to assess isolated US-detected disease as an indication for UDCA.

Objectives: The aim of this multicenter prospective, randomized, double-blind study was to assess the efficacy of the combination of omeprazole, amoxicillin, and clarithromycin (OAC) for the treatment of Helicobacter pylori gastritis in children. Study design: Seventy-three children with dyspeptic symptoms were included in the trial (mean age 10.8 years; range, 3.3 to 15.4). Patients were randomized to receive OAC or amoxicillin and clarithromycin (AC) for 7 days. H pylori status was assessed before and 4 weeks after eradication treatment, by use of the carbon 13–labeled urea breath test. Results: In intent-to-treat analysis (n = 63), eradication rates were 74.2% (95% CI, 58.7 to 89.6) in the OAC group and 9.4% (95% CI, 0 to 19.5) in the AC group. In per-protocol analysis (n = 53), the eradication rate increased to 80% (95% CI, 64.3 to 95.7), remaining significantly higher than in AC group (10.7%; 95% CI, 0 to 22.2). Resistance of strains to clarithromycin was rare (3/39 = 7.7%) and was not associated with failure of treatment. Adverse events were reported in 24.6% of patients and remained mild. Conclusion: This study shows that 1-week OAC triple therapy results in successful eradication of H pylori in 75% of children with gastritis. (J Pediatr 2001;139:664–8)

The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children.The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice.The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%).Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

To determine if abnormal liver architecture at ultrasonography (US) is related to abnormal function in children with cystic fibrosis (CF).For 1 year, all 195 children (112 boys, 83 girls; mean age, 8.5 years) attending a CF clinic underwent abdominal US and a standard set of liver function tests. Aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase levels were analyzed. US signs were interpreted as follows: hypoechogenicity with prominent portal tracks as edema, hyperechogenicity as steatosis, and increased attenuation and nodules within or at the edge of the liver as cirrhosis. Signs of portal hypertension also were sought. US signs were compared with liver function test results.Liver sonograms were abnormal in 38 children (19%); of these, 24 (63%) had abnormal test results. The 157 children with normal liver architecture had a much lower prevalence of biochemical abnormality (33 patients [21%]; Por = .001). All eight children with signs of portal hypertension had abnormal test results. Fourteen (82%) of 17 children with signs of cirrhosis had abnormal liver function. Eight (57%) of 14 patients with signs of steatosis had abnormal function. Diffuse hypoechogenicity of the liver with prominent portal tracks in 16 patients was associated with abnormal function in only five patients.The relation between abnormal liver architecture at US and results of three liver function tests in children with CF was significant. The most specific US abnormalities related to abnormal function are signs suggestive of portal hypertension and cirrhosis.

Objectifs Etudier l’evolution de la symptomatologie, des modalites de diagnostic et du traitement des patients avec un Deficit Congenital en Saccharase-Isomaltase (DCSI) depuis les 40 dernieres annees, avec les progres en gastroenterologie pediatrique et la modification de la composition en sucre des preparations pour nourrisson, depuis le decret du 1-7-1976 en en France et les recommandations de l’ESPGAN en 1977. Methodes Etude retrospective multicentrique des DCSI diagnostiques en France de 1963 a 2003. Comparaison selon l’annee de naissance (avant et apres 1977, par decennie). Evaluation de la qualite de vie realisee chez 11 patients. Resultats 53 DCSI ont ete diagnostiques (âge median de diagnostic 9,1 mois, avec 79 % de moins d’1 an, delai diagnostique de 3,6 mois apres la 1re consultation de gastropediatrie). L’âge des premiers signes a augmente de 0,8 mois a 4,8 mois de 1960-1970 a 1990-2003 (p = 0,01), de paire avec le recul de l’âge de diversification (2 vs 4 mois. p = 0,048) et la suppression du saccharose dans les preparations pour nourrisson, avec moins de deshydratation (44 vs 9 %), mais un poids plus faible (-0,5 vs –1,8 DS). Le Breath test (11 vs 64 %) remplace progressivement le test de charge en saccharose (89 vs 54 %). La biopsie digestive avec etude enzymatique reste l’etalon-or du diagnostic du DCSI. Cependant il ne reste actuellement que 2 laboratoires qui realisent encore cette etude en France. L’âge de la biopsie intestinale diminue de 14 a 9,5 mois (p = 0,03) et le delai diagnostique de 8,9 a 3,4 mois. Une nutrition enterale et parenterale a ete utilisee dans 25 % des cas. Un substitut enzymatique a ete donnee chez 22 % des patients, habituellement arrete plus tard, en raison de l’augmentation de la tolerance du saccharose. Cependant, l’etude de auto-evaluation de la qualite de vie (n = 9/11) montre clairement une amelioration plus rapide de celle-ci au 3e et 12e mois du traitement avec le substitut enzymatique. Conclusion Il s’agit de la plus grande serie de DCSI. Il est interessant de voir comment la modification des habitudes alimentaires et de la composition des preparations pour nourrissons a pu influencer l’âge d’apparition des symptomes.

Several clinical trials of ursodeoxycholic acid (UDCA) have shown improvement of liver-function test results in cystic fibrosis (CF) with liver disease; however, there is no evidence that the long-term course will be affected. In view of the observations that UDCA can change the lipid profile and that patients with CF and liver disease are more likely to have essential fatty acid (EFA) deficiency, we elected to examine changes in the lipid profile and in the status of fat-soluble vitamins in response to UDCA.Nineteen children with CF and liver dysfunction were recruited for a double-blind, crossover study of 1 year's duration, followed by treatment of the entire group. UDCA was administered at a dosage of 15 mg/kg per day, which, in the absence of a 50% decrease of alanine transaminase or aspartate transaminase or both within 2 months, was increased to 30 mg/kg per day.At entry, all patients had biochemical evidence of EFA deficiency. The lipid profiles during an average period of 25 months of follow-up showed a significant decrease in triglycerides (p0.002), cholesterol (p0.02), and total fatty acids (p0.006). In addition, UDCA therapy led to an improvement in EFA status, as indicated by an increase (p0.05) in the n-6 fatty acid concentration and a reduction (p0.04) in the 20:3n-9/20:4n-6 fatty acid ratio. Although no change in vitamin E levels was observed, retinol metabolism was altered. There was an increase (p0.02) in the unesterified retinol/retinol binding protein molar ratio in the absence of a difference in retinol binding protein concentration. Furthermore, retinyl esters, which normally account for less than 3% of circulating retinol, decreased (p0.05) from 13.7% +/- 3.6% to 8.1% +/- 1.7%.This study confirms that UDCA alters lipoprotein metabolism and shows that it improves the EFA and retinol status of patients with CF and liver disease.

Cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsible, when mutated, for cystic fibrosis (CF), spans over 230 kb on the long arm of chromosome 7 and is composed of 27 exons. The most common mutation responsible for CF worldwide is the deletion of a phenylalanine amino acid at codon 508 in the first nucleotide-binding fold and accounts for approximately 70% of CF chromosomes studied. More than 250 other mutations have been reported through the CF Genetic Analysis Consortium. The majority of the mutations previously described lie in the two nucleotide-binding folds. To explore exhaustively other regions of the gene, particularly exons coding for transmembrane domains, the authors have initiated a collaborative study between different laboratories to screen 369 non-[Delta]F508 CF chromosomes of seven ethnic European populations (Belgian, French, Breton, Irish, Italian, Yugoslavian, Russian). Among these chromosomes carrying an unidentified mutation, 63 were from Brittany, 50 of various French origin, 45 of Irish origin, 56 of Italian origin, 41 of Belgian origin, 2 of Turkish origin, 38 of Yugoslavian origin, 22 of Russian origin, and 52 of Bulgarian origin. Diagnostic criteria for CF included at least one positive sweat test and pulmonary disease with or without pancreatic disease. Using amore » denaturing gradient gel electrophoresis (DGGE) assay, they have identified eight novel mutations in exon 17b coding for part of the second transmembrane domain of the CFTR and they describe them in this report. 8 refs., 1 fig., 1 tab.« less

In familial adenomatous polyposis coli (APC) it is possible to detect APC carriers either by research of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) or by genetic diagnosis (APC gene is localized in 5q21). These detections were performed in 33 patients of four families with the same positivity for genetic typing (11 patients) or for CHRPE (11 patients) which thus avoided annual coloscopy.

Chronic liver disease is a major complication of cystic fibrosis. Its incidence and severity show marked heterogeneity, even among the homogeneous group of homozygous ΔF508 patients, suggesting that environmental or genetic factors other than the deletion ΔF508 may influence the development of cystic fibrosis related liver disease. We investigated whether the allelic variants of mannose binding lectin, an important protein of the immune system, could be associated with the presence of cirrhosis in a population of 216 homogeneous homozygous ΔF508 patients. Analysis of the data shows that the presence of cirrhosis in cystic fibrosis patients is significantly associated with a mutated mannose binding lectin genotype (homozygous or compound heterozygous for mannose binding lectin variants). The modulating role of mannose binding lectin in the occurrence of cirrhosis in cystic fibrosis could be explained by the fact that hepatotoxic damage from viruses or bacteria might be increased by the immunodeficiency associated with mannose binding lectin variants and might facilitate the degradation of liver status. These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients. Keywords: cystic fibrosis; cirrhosis; mannose binding lectin; modulating gene

Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, mental retardation and poor feeding. Because of the eczema which was present in half of the cases after 4 years of age, it cannot be mistaken for the more frequent fetal alcohol syndrome. We report 5 cases, among whom two sibs, confirming the recessive autosomal mode of inheritance and the necessity for genetic counseling.

The development of gastric acid-protected pancreatic extracts has radically transformed the diet of patients with cystic fibrosis, who are now provided with a high-caloric, hyperproteinic and normo- or hyperlipidic diet, with a correct supplementation in minerals, vitamins and oligo-elements. Nutrition has a major influence on the course of the disease, and the evaluation of the patients' needs has already shown that these are clearly increased in cystic fibrosis. In the severe and advanced forms of the disease, when refractory anorexia is added to chronic infection, more or less sophisticated techniques of nutritional assistance, such as oral supplementations and enteral or even parenteral feeding, are carried out. These techniques not only improve the anthropometric nutritional parameters, but if they have been prescribed soon enough they also interfere with the outcome of the disease.

In familial adenomatous polyposis coli (APC) it is possible to detect APC carriers either by research of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) or by genetic diagnosis (APC gene is localized in 5q21). These detections were performed in 33 patients of four families with the same positivity for genetic typing (11 patients) or for CHRPE (11 patients) which thus avoided annual coloscopy.

We evaluated 19 patients (8/12-16 8/12 years) with Tyrosinemia for possible liver transplantation. Ten children had repeated neurological crises (severe paresthesias, automutilation, paralysis), and 12 had evidence of renal disease as assessed by a GFR < 60 (4), Fanconi-like syndrome (5), nephromegaly with or without nephrocalcinosis (10). The following liver tests were abnormal; AST/ALT (12), Alk. Phos. (8), bilirubin (5), γ GT (13), PT (11), PTT (7), albumin (6). Portal hypertension was present in 8 patients. Nodules were present on liver imaging in 10 children, with α fetoprotein (AFP) levels ranging from normal to 33000 ng/ml. Of the 8 whole livers available for histological examination, 2 contained foci of hepatocarcinoma. No relationship between AFP, hepatocarc inoma, or the presence of nodules could be found. Five children had a liver transplant, and 2 a combined liver-kidney transplant (one of the two died from primary non-function of the liver graft). The 6 remaining transplanted patients are alive and thriving with normal liver tests, and none have had recurrence of neurological crises. Two patients died while on the waiting list and 3 during severe neurological crises. Liver transplantation cures the hepatic metabolic disease, protects from the development of hepatocarcinoma, and prevents further neurological crises. Combined liver-kidney transplantation should be considered in children with low CFR's in light of the long-term effects of CSA.

In order to avoid inactivation in the stomach, pancreatic enzymes have been prepared as pH-sensitive, enteric-coated microspheres (Pancrease). An in vitro study was performed to evaluate the pH-related dissolution of Pancrease and to confirm its resistance to gastric acidity. Two assay methods were used with three different batches of Pancrease: (a) Enzyme absorbency at 280 nm was measured at unit pH intervals from pH 1 to pH 8 and at 0.5 pH intervals from the start of dissolution to pH 8. (b) Proteolytic activity was measured at pH 6.8. Significant enzyme dissolution started at pH 5.5 and was maximal at pH 6.0. At pH 6.8, the pH of simulated intestinal fluid, dissolution was complete in less than 15 min. At pH 5.0, no dissolution occurred within the first 10 min and only 13% dissolution was observed after 2 h. At pH 7.0, 100% dissolution was seen within 10 min. Results of the two assay methods were comparable with all three enzyme batches assayed. This study confirmed the gastroresistance of Pancrease. Because of the enteric coating of Pancrease, liberation of enzymes occurs in the duodenum and jejunum, providing maximal enzymatic efficacy in exocrine pancreatic insufficiency.

Although dehydrated obstructing mucus is thought to account for the obstructive pathology involving the lungs, the pancreas, the reproductive system, and the intestinal tract, its relationship with CF-associated liver disease remains largely hypothetical and little is known about possible risk factors. Complete clinical and autopsy records were available in 38 of 73 deaths occurring over a 10-year period. The liver was normal in only five cases, and they were all infants. Steatosis was the only lesion present in 9, hypoxic liver disease was documented in 8, and biliary cirrhosis in 16 (focal in 10 and multilobular in 6). There was no relationship between the presence of cirrhosis, gallbladder abnormalities, age at death, and clinical status recorded during the year precoding their demise. Mucus plugs characterized by amorphous eosinophilic material within proliferated bile ductules were present in 75% of children with focal or multilobular biliary cirrhosis as opposed to 14% in those without (p = 0.015). A history of meconium ileus or its equivalent was recorded more frequently (p = 0.038) in those with cirrhosis. Finally, biliary cirrhosis was invariably present when there was a history of meconium ileus or its equivalent and when mucus plugs were noted. These findings suggest that patients with intestinal obstruction are at greater risk for the development of cirrhosis and that strategies should be developed to increase the detergent capacity of bile and its flow in order to decrease the viscosity of mucus in the biliary tree.

This retrospective study of Crohn disease in 230 children and adolescents with a mean age of 12.5 years at the time of diagnosis and an average follow-up of 6.6 years showed that 30% had lesions of the esophagus, stomach, and duodenum. Three patients had Crohn disease isolated to the upper gastrointestinal tract. The 169 patients with both small and large bowel disease were at greater risk (33%, P < .05) of having upper gastrointestinal lesions than the 37 with isolated small bowel disease and the 21 with disease limited to the colon and/ or rectum. An aggregate of symptoms and signs more likely present in those with upper gastrointestinal involvement included: dysphagia, pain when eating, nausea and/or vomiting, and aphthous lesions of the mouth. Furthermore, weight loss was more severe and hypoalbuminemia more frequent. Because upper gastrointestinal series x-ray studies failed to detect upper gastrointestinal lesions in 13 patients of 69 of those with upper gastrointestinal disease, endoscopy should be considered in all children and adolescents in whom a diagnosis of Crohn disease is entertained. Endoscopy and biopsy of the upper gastrointestinal tract should be done in any patient with symptoms suggestive of proximal involvement. Finally, in view of the fact that endoscopy established the diagnosis of Crohn disease in five patients previously thought to have chronic ulcerative colitis, the procedure should routinely be performed in all patients with chronic ulcerative colitis or indeterminate colitis before surgery is performed.

We describe a patient with a large diverticulum of the gastric fundus disclosed by an episode of epigastric pain. Hematemesis occurred, requiring surgical removal of the diverticulum. Gastric diverticula are uncommon embryologic anomalies that are usually asymptomatic. Surgical treatment is necessary if a complication develops.

A young girl 12 old, sent to us for obesity, and coxa-epiphysiolysis showed signs of mental retardation and bilateral thumb ankylosis. The fact that the mother was also affected by both of these signs, led to a more detailed genetic research. The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylosis of both thumbs. This vertical inheritance, affecting apparently females only, but not associated with a high rate of miscarriage, has, it seems, never been reported. The characteristics of this family are being considered and discussed.

Anterior panhypopituitarism has been observed in one of monozygous twin girls. Etiologic investigations were negative and only suggested an hypothetic perinatal insult. Genetic abnormalities could be excluded. Replacement therapy with human growth hormone was strikingly successful, with a remarkable catch-up growth and, however, a velocity of bone age comparable with the velocity of growth.

An atrophy of villi without digestive troubles is found in a 3 1/2 years old boy with a typical Duhring's disease. This observation proves the interest to research an enteropathy in case of dermatitis herpetiformis, and on the other hand the gluten free diet's efficacity on the cutaneous lesions. The authors consider cutaneous lesions's pathogeny and the antigenic relations between these two diseases.

Bilateral adrenal haemorrhage was diagnosed in 3 newborns. Clinical, biological and hormonal features were different in each case: abdominal mass in the first case; hyponatremic dehydration for the two others. This hyponatremic dehydration was related to temporary acute adrenal insufficiency for one newborn while association with medullary necrosis did not allow to assert hypoadrenalism for the other. These three cases emphasize: 1) variability of presentation at onset; 2) heterogeneousness of salt loose syndrome; 3) interest of systematic renal and adrenal exploration in adrenal haemorrhage.