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

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

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

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

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

Influência de tensões compressivas na pressão de precompactação e no índice de compressão do solo

Este trabalho objetivou determinar os parâmetros de compressibilidade de um Argissolo Vermelho através de ensaios de compressão uniaxial, com três tempos de aplicação de pressão compressiva (7,5 s, 1 e 2 min) em duas umidades do solo (0,113 e 0,164 kg kg-1) e verificar o comportamento mecânico do solo após o alívio das cargas. O Argissolo Vermelho foi coletado em experimento conduzido em parcelas fisicamente degradadas e recuperadas na Estação Experimental Agronômica da UFRGS. A condição de degradação apresentou os maiores valores de pressão de precompactação em relação à condição fisicamente recuperada, nas duas umidades estudadas. Não houve diferença significativa entre os valores das pressões de precompactação do solo determinados com as curvas de compressão nos tempos de aplicação da pressão compressiva de 7,5 s, 1 e 2 min, nas duas umidades e nas duas condições físicas do solo. A condição fisicamente recuperada apresentou maior índice de compressão em relação à condição degradada em ambas as umidades. O alívio promovido pela remoção das pressões compressivas impostas ao solo promoveu um pequeno incremento na porosidade total do solo e decréscimo na sua densidade.The objectives of this study were to determine the compressibility parameters of an Acrisol through uniaxial compression tests, with three application times of compressive pressure (7.5 s, 1 and 2 min) and in two moisture contents (0.113 and 0.164 kg kg-1), and to verify the mechanical soil behavior after the removal of the loads. The Acrisol was collected in an experiment conducted in areas physically degraded and upgraded, in the Agricultural Experimental Station of the UFRGS. The physically degraded condition presented the highest values of precompaction pressure in relation to the upgraded condition, for both moisture contents. There was no significant difference among the values of precompaction pressure determined with the soil compression curve for the times of 7.5 s, 1 and 2 min compressive pressure application in both moisture contents as well in both physical conditions of the soil. The physically upgraded condition presented higher compression index compared to the degraded condition in both moisture contents. The relief promoted by the removal of the compressive pressures imposed on the soil promoted a small increment in the total porosity and reduction in the bulk density

Erosividade da chuva: distribuição e correlação com a precipitação pluviométrica de Teodoro Sampaio (SP)

Rainfall erosivity at Teodoro Sampaio was studied through methodology proposed by Wischmeier and Smith (1958). A set of 812 erosive individual rains was selected, from a continuum series of nineteen years of nonrecording rain gauge data, according to Wischimeier (1959), Wischmeier and Smith (1978) and Cabeda (1976) and proposed with changes by Carvalho (1987). All the selected rains were computed by the package of Cataneo et al. (1982). The rainfall erosivity factor computed was 7172 MJ mm ha-1 h-1 y-1, which is expected to occur at least once each 2.33 years, with a probability of occurrence of 42.9 %. The values of the annual erosivity indices at that site expected in the return periods of 2, 5, 10, 20, 50, and 100 years were, respectively, 6,831, 8,666, 9,877, 11,046, 12,546, and 13,675 MJ mm ha-1 h-1 y-1. The greatest annual soil loss is expected to occur between the months of October and March, as shown by the 74.0 % erosivity 45.7 % with occurring between December and February of the total annual erosivity for that period. Therefore, aiming to follow the correct soil conservation principles, the better soil conservation pratices are recommended to be established and maintained throughout that particular period of the year for an effective erosion soil loss control. A high correlation was found between the montly average erosivity index EI30 and the rainfall coefficient at that site. Therefore, the regression equation obtained allows a fair estimate of the R factor to be used for other regions where climatic conditions are similar to Teodoro Sampaio's but without available data.Foram separadas 812 chuvas individuais consideradas erosivas de uma série contínua de 19 anos de registros de dados pluviográficos. As chuvas selecionadas foram cotadas, digitalizadas e, posteriormente, analisadas pelo programa desenvolvido por Cataneo et al. (1982). O fator erosividade da chuva, expresso pelo parâmetro EI30 médio anual calculado, foi de 7.172 MJ mm ha-1 h-1 ano-1, fator esperado no local pelo menos uma vez a cada 2,33 anos, com uma probabilidade de ocorrência de 42,9 %. Os valores anuais de erosividade de Teodoro Sampaio, esperados nos períodos de retorno de 2, 5, 10, 20, 50 e 100 anos, foram, respectivamente, de 6.831, 8.666, 9.877, 11.046, 12.546 e 13.675 MJ mm ha-1 h-1 ano-1. No semestre de outubro a março, ocorreu 74,0 % da erosividade anual, sendo 45,7 % de dezembro a fevereiro. Observou-se elevada correlação entre o parâmetro EI30 médio mensal e o coeficiente de chuva (P²/P). Portanto, a equação de regressão determinada permite que seja estimado, com boa margem de segurança, o fator R para outros locais que não disponham de dados pluviográficos, mas que, entretanto, tenham dados pluviométricos e condições climáticas semelhantes às de Teodoro Sampaio (SP).Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Universidade do Estado de São Paulo - UNESP Faculdade de Engenharia Departamento de Fitossanidade, Engenharia Rural e SolosUNESP Faculdade de Ciências Agrárias e Veterinárias Departamento de Solos e AdubosUniversidade do Estado de São Paulo - UNESP Faculdade de Engenharia Departamento de Fitossanidade, Engenharia Rural e SolosUNESP Faculdade de Ciências Agrárias e Veterinárias Departamento de Solos e Adubo

Compressibilidade de um Argissolo Vermelho fisicamente degradado e recuperado

A reconstituição da qualidade de solos fisicamente degradados tem sido feita por sistemas de manejos conservacionistas; no entanto, a melhoria da estrutura do solo o torna muito suscetível à compactação quando sofre compressões pela mecanização. A compressibilidade de amostras de um Argissolo Vermelho fisicamente degradado e recuperado, coletadas na Estação Experimental Agronômica da Universidade Federal do Rio Grande do Sul, em Eldorado do Sul, RS, foi avaliada com ensaios de compressão uniaxial, em duas umidades. A curva de compressão do solo, porosidade, densidade do solo e a resistência à penetração foram determinadas. Amostras de solo recuperado mostraram-se mais compressíveis, principalmente em umidade mais elevada. Após a compressão com pressões entre 25 e 500 kPa, o solo recuperado apresentou-se fisicamente muito semelhante ao solo degradado. A baixa resistência a compressão do solo recupe­rado torna evidente a dificuldade de compatibilizar o manejo do solo após o uso de sistemas conservacionistas e recuperadores de estrutura com a mecanização, tal como é hoje praticada, o que indica a necessidade de se encontrar alternativas que diminuam as pressões compressivas aplicadas ao solo ou que o condicionem a oferecer maior resistência à compressão.The reclaimation of physically degraded soils has been done using conservationist systems. However, improvement of soil structure makes then very susceptible to intense deformation when bearing compression through mechanization. The compressibility of a Acrisol, physically degraded and reclaimed, collected in the Agricultural Experimental Station of the Federal University of Rio Grande do Sul, in Eldorado do Sul, RS, in two moisture levels, was evaluated with uniaxial compression tests. The soil compression curve, porosity, soil density and resistance to penetration were determined. The physically reclaimed soil samples were more compressible, noteably at higher moisture levels. After applying stresses from 25 to 500 kPa, the reclaimed samples were very similar to the degraded ones. The low resistance to compression showed by the physically reclaimed soil makes evident the difficulty in making compatible the management of conservationist and upgrading structure systems with agricultural mechanization as practiced today. This also strengthens the necessity in finding alternatives to reduce stresses on soils or to make them able to offer higher resistance to compression

Impact of COVID-19 pandemic on cardiovascular testing in Asia: the IAEA INCAPS-COVID study

BACKGROUND The coronavirus disease-2019 (COVID-19) pandemic significantly affected management of cardiovascular disease around the world. The effect of the pandemic on volume of cardiovascular diagnostic procedures is not known. OBJECTIVES This study sought to evaluate the effects of the early phase of the COVID-19 pandemic on cardiovascular diagnostic procedures and safety practices in Asia. METHODS The International Atomic Energy Agency conducted a worldwide survey to assess changes in cardiovascular procedure volume and safety practices caused by COVID-19. Testing volumes were reported for March 2020 and April 2020 and were compared to those from March 2019. Data from 180 centers across 33 Asian countries were grouped into 4 subregions for comparison. RESULTS Procedure volumes decreased by 47% from March 2019 to March 2020, showing recovery from March 2020 to April 2020 in Eastern Asia, particularly in China. The majority of centers cancelled outpatient activities and increased time per study. Practice changes included implementing physical distancing and restricting visitors. Although COVID testing was not commonly performed, it was conducted in one-third of facilities in Eastern Asia. The most severe reductions in procedure volumes were observed in lower-income countries, where volumes decreased 81% from March 2019 to April 2020. CONCLUSIONS The COVID-19 pandemic in Asia caused significant reductions in cardiovascular diagnostic procedures, particularly in low-income countries. Further studies on effects of COVID-19 on cardiovascular outcomes and changes in care delivery are warranted