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Biomedical subjects

A Dabadie

Publications and source records attributed to A Dabadie.

At least 37 records · Page 2Linked to original sources
PubMed1997

TAP gene transporter polymorphism in inflammatory bowel diseases.

BACKGROUND: Many studies suggest the implication of genetic factors in inflammatory bowel diseases. Despite some associations with HLA genes, the lack of definite data may be due to ethnic variations, clinical heterogeneity, or the involvement of additional susceptibility genes beside or within the major histocompatibility complex (MHC), such as TAP genes. The aim of this study was to analyze in patients with ulcerative colitis (UC) or Crohn's disease (CD) the polymorphism of TAP genes that encode the proteins necessary for the transfer of antigenic peptides through the endoplasmic reticulum membrane. METHODS: One hundred and one UC and 148 CD patients were compared with 173 unrelated healthy controls. Dimorphisms within the TAP1 and TAP2 alleles were analyzed by sequence-specific oligonucleotide typing. RESULTS: No difference was found between patient groups and controls. However, when CD patients were classified on the basis of their responsiveness to steroid therapy, a significant decrease of TAP2 AA (*0101/*0101) genotype was found in CD patients who did not respond to steroid therapy (22.9% versus 43.7% in steroid responder group; Pc < 0.05; odds ratio = 2.6; 95% confidence limits (CL) = 1.2-5.9). These data appear independent of the distribution of HLA DRB1*01 or DRB1*03 alleles despite a significant linkage disequilibrium between these alleles and TAP2A. CONCLUSIONS: This result suggests, despite the absence of arguments favoring a genetic susceptibility to CD, that the TAP2 gene or other genes located on chromosome 6 may be involved in the genetic heterogeneity of CD.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed1997

Significance of interleukin-1beta and interleukin-1 receptor antagonist genetic polymorphism in inflammatory bowel diseases.

OBJECTIVE: Genetic susceptibility to inflammatory bowel disease is well recognized. There is also increasing evidence for the activation of the mucosal immune system and the production of inflammatory cytokines, i.e., interleukin (IL)-1ra and IL-1beta in the inflammatory bowel disease. The aim of this study was to analyze the IL-1beta and IL-1ra gene polymorphism and linkage disequilibrium coefficient between the different alleles of these genes in patients with Crohn's disease (CD) or ulcerative colitis (UC), according to the severity of the disease. METHODS: Two hundred twenty-eight inflammatory bowel disease patients (87 UC and 141 CD) were included in this study and compared with 113 unrelated controls. The IL-1beta and IL-1ra gene polymorphism was studied after specific amplification of variable regions by PCR. A penta-allelic polymorphism, corresponding to a VNTR region located in intron 2 of the IL-1ra gene, was analyzed, whereas bi-allelic RFLPs displayed by two restriction enzymes (TaqI and AvaI) at position -511 of the IL-1beta gene were analyzed. RESULTS: There was no significant difference of genotype distribution between controls and CD or UC patients. However, surgically treated UC patients were characterized by a higher frequency of genotype IL-1ra 1-2 (39 vs 16%, pc < 0.01) compared with nonoperated UC patients. Moreover, nonoperated UC patients displayed a lower frequency of IL-1ra allele 2 than surgically treated UC patients (14 vs 34%, pc < 0.002) or controls (14 vs 30%, pc < 0.005). Furthermore, simultaneous analysis of the IL-1beta and IL-1ra genes that are located in the same region of chromosome 2 revealed that CD patients carrying the IL-1beta allele 2 were more often noncarriers of IL-1ra allele 2 (p < 0.005). Moreover, UC and CD patients were, characterized by a lower frequency of the association of IL-1ra allele 2 and IL-1beta allele 2 compared with controls (8.3 vs 20.3% and 10.6 vs 20.3%, p < 0.03). CONCLUSIONS: IL-1ra and IL-1beta gene polymorphism analysis from a clinical standpoint might help in defining UC prognosis. However, functional studies at both the circulating and mucosal level with stratification on allele associations, especially IL-1ra allele 2-IL-1beta allele 2 subgroups must be realized before therapeutic implications.

Adult↗
PubMed1997

[Incidence of inflammatory bowel diseases in Bretagne (1994-1995). ABERMAD. Association Bertonne d'Etude et de Recherche des Maladies de l'Appareil Digesif].

OBJECTIVES: The aim of the study was to determine the incidence and the main clinical data of inflammatory bowel disease in Brittany. METHODS: According to EPIMAD registry's methodology, private and public gastroenterologists (n = 139) of Brittany (2836418 inhabitants) referred all patients consulting for the first time, in 1994 and 1995 with clinical symptoms compatible with inflammatory bowel disease. An interviewer practitioner completed at the gastroenterologist's consulting room a standard questionnaire for each patient. Each case was reviewed separately by four experts to assign a diagnosis of definite, probable, possible Crohn's disease, ulcerative colitis, unclassifiable chronic colitis, or acute colitis (onset of symptoms < 6 weeks). RESULTS: 657 cases were recorded: 205 Crohn's disease (31%), 165 ulcerative colitis (25%) including 75 ulcerative proctitis (46%), 42 unclassifiable chronic colitis (7%), 245 acute colitis (37%). The crude mean annual incidence (per 10(5) inhabitants) based on definite and probable cases only was 2.8 for Crohn's disease and 2.9 for ulcerative colitis. The female/male ratio was 0.9 for Crohn's disease and 0.5 for ulcerative colitis. The median age at time of diagnosis was 27 for Crohn's disease and 36 for ulcerative colitis. The median time between onset of symptoms and diagnosis was equal to 3 months for Crohn's disease and ulcerative colitis. CONCLUSION: In Brittany the observed incidence of ulcerative colitis is similar to that of Crohn's disease and close to that observed in northern France. The incidence of Crohn's disease is lower. However, the real incidence of inflammatory bowel disease is currently underestimated due to the large number of acute colitis requiring a follow up and the cases of Crohn's disease classified as possible not taken into account.

Acute Disease↗
PubMed1997

[Polymorphism of the microsatellites and tumor necrosis factor genes in chronic inflammatory bowel diseases].

OBJECTIVES: Multiplex family studies have excluded chromosome 6 as a candidate gene of susceptibility to inflammatory bowel disease. However, one recent study suggested that a gene involved in the pathogenesis of Crohn's disease is located on chromosome 6 confering to a microsatellite allelic combination (a2, b1, c2, d4, e1) a strong genetic risk factor in Crohn's disease. The aim of our study was to determine simultaneously the polymorphisms of the TNF microsatellites and of the genes coding for TNF synthesis in patients with inflammatory bowel disease. PATIENTS AND METHODS: Sixty patients with ulcerative colitis, 100 patients with Crohn's disease were compared to 64 healthy ethnically matched controls. Five TNF microsatellite loci (a, b, c, d, e) were typed using polymerase chain reaction PCR, and two dimorphisms of TNF alpha and TNF beta (intron 1) were studied by restriction fragment length polymorphism (RFLP). RESULTS: Allelic frequencies of TNF microsatellites and of TNF alpha and beta genes were similar in Crohn's disease, ulcerative colitis and controls. Five loci microsatellite haplotypes, especially a2 b1 c2 d4 e1 allelic combination, were not more frequent in Crohn's disease (25%) compared to ulcerative colitis (27%) or controls (20%). Subgroups stratification according to clinical characteristics did not modify haplotype frequencies. Analysis of our data taking simultaneously into account the MHC alleles (DRB*01 or DRB1*04) did not modify our data; however, it suggested that extended haplotype on short arm of chromosome 6 differed between patients and controls. Linkage disequilibrium (delta = -360.10(-4); P < 0.01) between a2, b1, c2, d4, e1 allelic combination and DRB1*04 allele was observed only in Crohn's disease. CONCLUSION: Percentages of patients with Crohn's disease or ulcerative colitis carrying TNF microsatellite or TNF alpha and beta gene haplotypes were similar to those of healthy controls. These data argue against involvement of the TNF locus without exclusion of short arm of chromosome 6 implication in Crohn's disease pathogenesis.

Adult↗
PubMed1996

[Sleeping position, prevention of sudden death syndrome and gastroesophageal reflux].

Based on results of epidemiological studies, dorsal or lateral sleeping positions are now recommanded in the prevention of sudden infant death syndrome (SIDS). This raises an ethical question about the attitude towards the ventral positioning therapy for gastroesophageal reflux (GOR). The consensus conference considers that the ventral position should only be recommanded in GOR when the benefit appears to outweigh the risk of SIDS that it induces. The conference proposes that for infants with simple uncomplicated reflux, sleeping in the prone position should not be introduced in the first line treatment. Prone positioning should be restricted to complicated cases resistant to dietary and medical measures.

Gastroesophageal Reflux↗
PubMed1996

[Glomerular nephropathy with IgA mesangium deposits and Crohn disease].

BACKGROUND: Renal disease is an unfrequent extraintestinal manifestation of chronic inflammatory bowel disease. CASE REPORT: A 12-year-old girl suffered from recurrent abdominal pain, diarrhea and growth impairment due to Crohn's disease of ileocaecal region. After six months of nutritional rehabilitation, an ileo-caecal resection was performed because of intestinal stenosis. The surgical procedure was followed by parietal abcess and cutaneous fistula. One year later, a purulent secretion came out of the fistula associated with fever, hematuria and acute renal failure. Renal biopsy confirmed IgA nephropathy. The course was favorable under parenteral nutrition and after surgical closure of the sigmoido-cutaneous fistula. The microscopic hematuria only persisted but the nephropathy did not relapse even during a further digestive exacerbation. CONCLUSION: IgA nephropathy has been reported in association with chronic inflammatory bowel disease. Its mechanism remains unclear: increased mucosal IgA production in inflammatory bowel, increased serum IgA and/or immune complex deposition in the renal mesangium appear the most relevant hypotheses.

Acute Kidney Injury↗
PubMed1996

[Total colonic form of Hirschsprung disease. Treatment and long-term follow-up in 16 cases].

From 1971 to 1994, 16 cases of total colon Hirschsprung's disease were treated at the University Hospital in Rennes. Diagnosis have been at 2 days to 3 months. Two children had a family history of Hirschsprung disease among which one associated megacolon and multiple endocrine neoplasia. This family had a mutation of the RET proto oncogene. Six children died before complete surgical cure, among whom 4 before total parenteral nutrition. Six were treated according to Lester Martin, 3 according to Duhamel, and 1 to Swenson. Diarrhea and occlusions happened during the first postoperative years. None had any enterocolitis. Eight of 9 followed children are continent. Technique had no influence on long term outcome. Early neonatal occlusion management seems to decrease enterocolitis's incidence. We abandoned Lester's technique and kept Duhamel's technique. The problems encountered during ileostomy period do not encourage us to forward the age of definitive surgery procedure.

Female↗
PubMed1995

Late presenting Bochdalek hernia containing colon: misdiagnosis risk.

The case of an eleven-months-old girl is reported: she entered the intensive care unit for fever, vomiting and left pleural effusion. Abdominal echography, CT scan and colonic opacification led to the diagnosis of a colonic Bochdalek hernia. A review of the literature showed that colonic hernias are rare, with only five previous reported cases in which colon was found in the thorax. The authors emphasise that there is a high risk of misdiagnosis due to the fact that small intestine contrast studies are normal; only colonic contrasting may lead to the right diagnosis. The roles of echography and CT scan are discussed.

Colon↗
PubMed1995

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

Two groups of infertile men with obstructive azoospermia were screened for cystic fibrosis (CF) gene mutations (delta F508, exons 3, 4, 7, 10, 11, 14a, 17b, 19, 20, 21). The first group was composed of 26 patients with congenital agenesis of vas deferens (CAVD). The second group was composed of 12 patients with obstructive azoospermia associated with chronic suppurating respiratory disease (Young's syndrome). Of the group with CAVD, 77% of patients showed at least one mutation in the CF transmembrane conductance regulator (CFTR) gene. The delta F508 mutation occurred most frequently (54%), and the second most frequent mutation to occur was R117H (27%). Six patients were double heterozygotes. In Young's syndrome, no CF mutations were detected. CAVD can be considered as an incomplete clinical form of CF. However, the differences observed in CF mutations between CF and CAVD suggest that they are different disorders resulting from mutations in the same gene. Young's syndrome is a very different clinical entity.

Adult↗
PubMed1995

Dose-dependent in vitro effect of recombinant human DNase on rheological and transport properties of cystic fibrosis respiratory mucus.

Recombinant human deoxyribonuclease (rhDNase) has been demonstrated to reduce the viscosity of purulent cystic fibrosis (CF) respiratory mucus, to improve pulmonary function and to reduce the risk of respiratory tract infectious exacerbations, but its effect on mucus transportability has not so far been investigated. The dose-dependent effect of rhDNase was analysed in vitro on mucus transport rate (tr) by ciliary activity and by simulated cough (cough transport (ct)), as well as on mucus viscosity and surface properties. Purulent CF sputa (n = 15) were incubated for 30 min at 37 degrees C with either rhDNase at three different concentrations (final concentrations 0.2, 2 or 20 micrograms.ml-1 of mucus) or placebo. No significant dose-dependent effect of rhDNase on the mucociliary transport rate was observed when the samples wer statistically analysed together. However, in the larger group of mucus samples (n = 11) with a low initial mucociliary transport rate, the latter was improved at each rhDNase concentration (tr0.2 = 0.69, tr2 = 0.88 and tr20 = 0.87) as compared to placebo (trp = 0.58). In the smaller group of mucus samples (n = 4) with high initial transport rate, a decrease in mucociliary transport rate was observed, particularly at the highest concentration rhDNase assayed, i.e. 20 micrograms.ml-1 of mucus (tr20 = 0.58) as compared to placebo (trp = 0.86). The mucus cough transport was increased by rhDNase (ct0.2 = 25 mm, ct2 = 27.5 mm and ct20 = 31 mm) as compared to placebo (ctp = 23.5 mm).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Inhalation↗
PubMed1994

[Antigliadin, antireticulin, antiendomysium antibodies: value in the diagnosis and follow-up of celiac disease in children].

In recent years, the clinical spectrum of coeliac disease has changed and forms with mild aspecific symptoms are today frequent. Therefore many infants are submitted to jejunal biopsy in order to exclude coeliac disease or to allow an early diagnosis. This has led to a search for a simple and reliable diagnostic test of coeliac disease in order to limit the use of jejunal biopsy. Recent data suggest that the study of serum antigliadin, antireticulin and antiendomysium antibodies may possibly play the role. In this paper the working group on coeliac disease of the Groupe Francophone de Gastroentérologie et Nutrition Pédiatriques expresses its view on the place of the dosages of these antibodies in the diagnosis and follow up procedures of coeliac disease in infants and children. At the present time, although it allows a simplification of the procedures, these dosages are presently not sufficiently reliable to serve as a substitute of jejunal biopsy.

Autoantibodies↗
PubMed1993

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T-->C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein.

Adolescent↗
PubMed1993

[Helicobacter pylori gastritis manifested by acute anemia].

Helicobacter pylori gastritis usually manifests as recurrent abdominal pain but is sometimes discovered upon evaluation for digestive tract bleeding with severe anemia. An 11-year-old who was not under medication and had no history of pain was admitted for isolated regenerative anemia (5.6 g/dl) due to digestive tract bleeding. Laboratory tests showed only low serum iron and ferritin levels. Endoscopy disclosed hemorrhagic inflammation of the duodenal cap and antritis with a hillocky appearance. The diagnosis of H. pylori infection was established on the basis of the finding of curved Gram-negative rods on the smears and of a positive urea test. There was moderate interstitial antritis. The patient was given an H2 antagonist (ranitidine) and amoxicillin with tinidazole for six weeks. Serum IgG antibodies against H. pylori were found in the child's parents and siblings, with the exception of a 7 month old infant. A ten year old sister had been hospitalized two years earlier for hemorrhagic duodenitis ascribed at the time to use of acetylsalicylic acid. H. pylori has been reported in 40% to 95% of pediatric patients with primary gastritis. Physicians should be familiar with this frequent, often familial disease. Management rests on concomitant administration of two antimicrobials and an acid secretion inhibitor to the index patient and family members. Endoscopy is too invasive to be appropriate for monitoring the outcome. In practice, recovery is affirmed on the basis of resolution of clinical manifestations and decreased levels of anti-H. pylori antibodies.

Acute Disease↗
PubMed1993

[Comparative study of results of pH-metry in function of its indication in infants].

A 24 hour pH-metry was performed in children younger than 3 months divided in 4 groups: group 1: 37 infants who presented an apparent life-threatening event (ALTE), group 2: 45 infants with an ALTE and chronic digestive symptoms (recurrent vomiting), group 3: 33 infants with digestive symptoms only, group 4: 32 sudden infant death syndrome (SIDS) siblings. The percent duration of oesophageal pH below 4 (% pH < 4) was measured during 24 hours and 12 nocturnal hours (8 PM-8 AM). In addition the mean duration of nocturnal episodes of reflux (MDNR) was calculated (duration of pH < 4 per 12 nocturnal hours/number of reflux episodes). No significant difference was found in the 4 groups for % pH < 4. Nocturnal reflux was present in all groups (40% in group 1, 55% in group 2, 49% in group 3 and 63% in group 4). The MDNR was higher in group 1 (12.3 +/- 7.8 min) vs group 2 (6.8 +/- 5.1 min) and group 3 (6.7 +/- 3.2 min) (P < 0.05). High MDNR did not appear to be related to an history of ALTE since the MDNR in group 2 was identical to group 3. Nocturnal pH metry profile failed to show a relationship between gastro-oesophageal reflux and ALTE.

Circadian Rhythm↗
PubMed1993

[Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].

The authors report the case of a 4 month old child presenting with a congenital arteriovenous fistula of the left hepatic lobe, revealed by a melaena. Doppler ultrasonography and angiography showed a voluminous vascular malformation fed by a left hepatic artery and fistulized in the portal vein. The therapeutical approach was first palliative, by ligature of the left hepatic artery which proved unsuccessful and resulted in re-permeation of the malformation through a right hepatic artery. Two embolization procedures were then attempted, without success. A left hepatectomy was then performed to remove the malformation. The main event of outcome was the secondary occurrence of a portal cavernoma, with persistent splenic segmentary portal hypertension, and oesophageal varicosity. This case report is the occasion for a literature review on congenital arteriovenous fistulae in the portal region, and for a discussion on therapeutical modalities.

Arteriovenous Fistula↗