Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany

Br J Haematol. 1998 Dec;103(3):842-5. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE. Abteilung für Medizinische Biochemie, Universitätskrankenhaus Eppendorf, Hamburg, Germany. Abstract Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload. PMID: 9858243 [PubMed - indexed for MEDLINE

HFE mutations in patients with hereditary haemochromatosis in Sweden

OBJECTIVE: To determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden. DESIGN: Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. SETTINGS: Patients with HH treated with phlebotomies at Karolinska Hospital and Huddinge Hospital were analyzed. SUBJECTS: Eighty-seven unrelated patients with HH and 117 healthy controls. RESULTS: It was found that the HFE C282Y mutation occurs in 94.2% of chromosomes from patients with HH. Eighty patients (92.0%) were homozygous for the C282Y mutation and one was heterozygous. Three patients were heterozygous for both C282Y and H63D mutations. One patient was homozygous and one was heterozygous for the H63D mutation. One patient carried normal alleles. In healthy controls, the C282Y mutation occurred in nine subjects (7.7%), all of which were heterozygous. The H63D mutation was found in 28 control subjects, one of which was homozygous. CONCLUSIONS: We found that the majority of patients with HH have the C282Y mutation in the HFE gene. The frequency of the H63D mutation was higher in controls than in patients with HH, although in chromosomes at risk the frequency of the H63D mutation was higher in patients

Effectiveness of two intracanal dressings in adult portuguese patients: a qPCR and anaerobic culture assessment

Aim: To quantify bacterial equivalents before and after chemomechanical preparation using 3% sodium hypochlorite (NaOCl) and intracanal dressing with calcium hydroxide paste (Ca(OH)2 ) or 2% Chlorhexidine digluconate gel (CHX) in necrotic pulps associated or not with apical periodontitis and to further compare this quantification with counts of anaerobic microorganisms. Methodology: Prospective clinical trial in 69 single-rooted adult teeth (strict inclusion criteria); CHX group: 34; Ca(OH)2 group: 35. Bacteria samples were taken at baseline (S1), after chemomechanical preparation (S2) and after 14 days of intracanal dressing (S3). Bacterial equivalents were assessed by broad-range real-time polymerase chain reaction (qPCR), and live viable bacteria measured with conventional anaerobic culture (CFU/mL). Descriptive/inferential analysis was performed with spss vs. 20.0 (α = 0.05) using the Kruskal-Wallis, Mann-Whitney and chi-squared tests and Spearman's correlation coefficients. Results: Both groups showed a significant decrease between S1 and S2 (Mann-Whitney U-test; P < 0.001) both in qPCR and in culture. In the Ca(OH)2 -group, no variation was observed between S2 and S3 by qPCR and culture. In contrast, the CHX group showed a significant increase from S2 to S3 by both techniques. The two groups were only significantly different in S3 (Mann-Whitney U-test; P ≤ 0.001), with a worse performance in the CHX group. Again, these results were congruent by both approaches. Data from both approaches correlate reasonably (rS < 0.5). Conclusions: Infected root canals contained a high bacterial load, and the chemomechanical root canal preparation reduced bacterial equivalents by 99.1% and anaerobic counts by 98.5%. Intracanal dressings were not efficient at reducing bacterial load, but the 14-day intracanal dressing with Ca(OH)2 performed significantly better than CHX, particularly in cases with apical periodontitis.info:eu-repo/semantics/publishedVersio

Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA‐A29, and non‐classical forms of hemochromatosis.

Immunogenetics. 1998 Apr;47(5):404-10. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justiça B, Wolff R, De Sousa M. Santo António General Hospital, Largo do Prof. Abel Salazar, no.1, P-4050 Porto, Portugal. Abstract The present study is an analysis of the frequencies of HFE mutations in patients with different forms of iron overload compared with the frequencies found in healthy subjects from the same region. The frequencies of HLA-A and -B antigens and HLA haplotypes were also analyzed in the same subjects. The study population included: 71 healthy individuals; 39 genetically and clinically well-characterized patients with genetic hemochromatosis (HH); and 25 patients with non-classical forms of iron overload (NCH), excluding secondary hemochromatosis. All subjects were HLA-typed and HFE-genotyped by the oligonucleotide ligation assay (OLA). The gene frequencies found for the C282Y and H63D mutations of HFE were respectively: 0.03 and 0.23 in healthy individuals, 0.86 and 0.04 in HH patients, and 0.08 and 0.48 in NCH patients. An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation. A new association was seen, however, between HLA-A29 and NCH, in linkage disequilibrium with the H63D mutation. Again as expected, the HLA-B antigen B7 was associated with HH in linkage disequilibrium with HLA-A3. In addition, the HLA-B antigen B44 was found to be associated with NCH but not in linkage disequilibrium with either A29 or the H63D mutation. In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients. These findings reinforce evidence for the involvement of the major histocompatibility class I in iron metabolism, supporting the notion of a physiological role for the immunological system in the regulation of iron load. PMID: 9510559 [PubMed - indexed for MEDLINE

Viable Mycobacterium avium subsp. paratuberculosis Colonizes Peripheral Blood of Inflammatory Bowel Disease Patients.

Pathobionts, particularly Mycobacterium avium subsp. paratuberculosis (MAP) and Escherichia coli isolates with adherence/invasive ability (AIEC) have been associated with inflammatory bowel disease (IBD), particularly Crohn's disease (CD). This study aimed to evaluate the frequency of viable MAP and AIEC in a cohort of IBD patients. As such, MAP and E. coli cultures were established from faecal and blood samples (with a total n = 62 for each) of patients with CD (n = 18), ulcerative colitis (UC, n = 15), or liver cirrhosis (n = 7), as well as from healthy controls (HC, n = 22). Presumptive positive cultures were tested by polymerase chain reaction (PCR), for a positive confirmation of MAP or E. coli identity. E. coli-confirmed isolates were then tested for AIEC identity using adherence and invasion assays in the epithelial cell line of Caco-2 and survival and replication assays in the macrophage cell line of J774. MAP sub-culture and genome sequencing were also performed. MAP was more frequently cultured from the blood and faecal samples of patients with CD and cirrhosis. E. coli presumptive colonies were isolated from the faecal samples of most individuals, in contrast to what was registered for the blood samples. Additionally, from the confirmed E. coli isolates, only three had an AIEC-like phenotype (i.e., one CD patient and two UC patients). This study confirmed the association between MAP and CD; however, it did not find a strong association between the presence of AIEC and CD. It may be hypothesized that the presence of viable MAP in the bloodstream of CD patients contributes to disease reactivation