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Biomedical subjects

Pierre Pare

Publications and source records attributed to Pierre Pare.

4 recordsLinked to original sources

Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic Whites: characterization of a large North American cohort.

OBJECTIVES: Inflammatory bowel disease (IBD), comprising primarily of Crohn's disease (CD) and ulcerative colitis (UC), is increasingly prevalent in racial and ethnic minorities. This study was undertaken to characterize racial differences in disease phenotype in a predominantly adult population. METHODS: Phenotype data on 830 non-Hispanic white, 127 non-Hispanic African American, and 169 Hispanic IBD patients, recruited from six academic centers, were abstracted from medical records and compiled in the NIDDK-IBD Genetics Consortium repository. We characterized racial differences in family history, disease location and behavior, surgical history, and extraintestinal manifestations (EIMs) using standardized definitions. RESULTS: African American CD patients were more likely than whites to develop esophagogastroduodenal CD (OR = 2.8; 95% CI: 1.4-5.5), colorectal disease (OR = 1.9; 95% CI: 1.1-3.4), perianal disease (OR = 1.7; 95% CI: 1.03-2.8), but less likely to have ileal involvement (OR = 0.55; 95% CI: 0.32-0.96). They were also at higher risk for uveitis (OR = 5.5; 95% CI: 2.3-13.0) and sacroiliitis (OR = 4.0; 95% CI: 1.55-10.1). Hispanics had higher prevalence of perianal CD (OR = 2.9; 95% CI: 1.8-4.6) and erythema nodosum (3.3; 95% CI: 1.7-6.4). Among UC patients, Hispanics had more proximal disease extent. Both African American and Hispanic CD patients, but not UC patients, had lower prevalences of family history of IBD than their white counterparts. CONCLUSIONS: There are racial differences in IBD family history, disease location, and EIMs that may reflect underlying genetic variations and have important implications for diagnosis and management of disease. These findings underscore the need for further studies in minority populations.

Adult↗

CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.

The caspase recruitment domain gene (CARD15) was recently identified as the underlying gene associated with the IBD1 locus that confers susceptibility to Crohn disease (CD). CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) in the gene were demonstrated to be associated with CD. We collected a cohort of 231 patients with CD and 71 healthy control individuals from the Canadian province of Quebec, to determine the prevalence of these sequence variants in an independent population. Clinical records of all patients were systematically reviewed, and detailed phenotypic information was obtained. All patient DNA samples were genotyped for the three variants, thus enabling an analysis of genotype-phenotype correlations. In this cohort, 45.0% of patients with CD carried at least one variant in the CARD15 gene, compared with 9.0% of control individuals (P<10-7). Allele frequencies of Arg702Trp, Gly908Arg, and Leu1007fsinsC were 12.9%, 5.2%, and 10.3% in patients with CD, compared with 4.2%, 0.7%, and 0.7% in control individuals, respectively. Importantly, CARD15 mutants were seen with equal frequency in patients with familial and sporadic CD. Analysis of the relationship between genotype and phenotype convincingly demonstrates that CARD15 variants are significantly associated with ileal disease involvement, as opposed to strictly colonic disease (P<.001). Moreover, we were able to determine the haplotype structure surrounding this disease gene by genotyping 45 single-nucleotide polymorphisms (SNPs) in a 177-kb region that contained the CARD15 gene. This structure helps clarify the history of these causal mutations. Finally, this analysis shows that CARD15 involvement with CD is detectable by use of publicly available SNPs alone.

Adult↗

Coeliac disease.

Increased awareness of non-classical presentations and more reliable screening tests have led to higher detection rates for coeliac disease in elderly adults. Clinical presentations are influenced largely by the long-standing course of the subclinical disease before diagnosis. In the majority of elderly patients, weight loss, diarrhoea and iron deficiency anaemia are present. With a delay in diagnosis, there are increased risks of associated autoimmune diseases, of neoplasms (mostly small bowel lymphoma) and of metabolic bone diseases. Thyroid disease is the most common autoimmune disease. Lymphoma may be the initial presentation or may complicate the clinical course of well established coeliac disease. Osteopenia is very common at presentation, can be clinically severe and require specific therapy in addition to the gluten-free diet. The high risk of complications in elderly patients with coeliac disease warrants a systematic approach in their investigation and management.

Aged↗

Diagnosis of constipation in family practice.

BACKGROUND: Patients who complain of constipation to their family doctor may not be truly constipated. Variability in stool frequency and consistency, and perception of symptoms may lead to inaccurate patient reporting or diagnosis of constipation. OBJECTIVES: To determine whether patients visiting their family doctor with a complaint of, or diagnosed with, constipation fulfilled the Rome II criteria for functional constipation and had stool characteristics of constipation. METHODS: A random sample of Canadian family physicians were recruited to enroll a series of adults who complained of, or had received a diagnosis of, constipation during an office visit. Patients were advised of the survey. Those providing written consent were contacted by an independent research firm and forwarded a survey questionnaire that included the Rome II gastrointestinal questionnaire, questions regarding their medical history and questions regarding their demographics. Patients also completed a four-week daily diary recording their bowel habits using the Bristol Stool Form Scale, medication use and satisfaction with treatment. Questionnaire and diary responses were retrieved by telephone. RESULTS: One hundred eighty-four family physicians enrolled 311 patients, of whom 220 completed the questionnaire. Females comprised 79.5% of the sample and had a mean age of 54.2 years (males 61.6 years; P<0.05). According to the Rome II criteria, 37.3% had functional constipation and 46.8% had irritable bowel syndrome (IBS). Whole gut transit times estimated using the Bristol Stool Scale were similar among those with self-reported constipation, those with Rome II functional constipation and those with Rome II IBS (79.3 h, 85.8 h and 77.4 h, respectively). Almost half of the patients with IBS or functional constipation were taking a pain medication, while nearly one-fifth took antidepressants. Of the medications or remedies taken to treat constipation, patients rated 49.8% of the doses as satisfactory. CONCLUSIONS: A large proportion of Canadian primary care patients whose presenting complaint or diagnosis was constipation satisfied the Rome II criteria for IBS, with a smaller number defined as functionally constipated. IBS patients tended to be younger than those with functional constipation, and whole gut transit times did not differentiate IBS from functional constipation. Careful questioning of patients who complain of constipation may reveal constipating medication, diarrhea symptoms or IBS.

Adult↗