RESUMEN

Background: Augmentation mammoplasty with subpectoral prosthesis implantation is a frequent performed procedure in plastic surgery for reconstructive and aesthetic purposes. Although prosthesis implantation in a pocket under the major pectoralis muscle has been related to volumetric and functional alterations, there is not much information about the associated short- and long-term histological changes. Therefore, the aim of our study was to describe the acute and chronic histological muscle alterations associated with subpectoral prosthesis implantation. Materials and Method: We collected samples from patients with breast tissue expander (<6 months after implantation) and prosthesis (>1 year after implantation) and from patients without implantation as a control group. The samples were processed for assessing their histological, histochemical and immunohistochemical properties. Results: In the control group, no relevant histological findings were identified. Additionally, in the patients with expander, we observed mild augmentation of the internalised nuclei, normal morphology, significant muscle atrophy and fibrosis, whereas in the patients with prosthesis considerable augmentation of internalised nuclei, significant muscle atrophy, fibrosis and alteration of normal muscle morphology were observed. Conclusion: Prosthesis implantation induces histological changes in the periprosthetic striated muscle. Chronic fibrosis and inflammation play key roles in this process, which should be characterised in more detail from the histological and molecular biological perspective.

RESUMEN

Research on COVID-19 vaccine hesitancy has been sparse among Latino/a immigrants, a population at high risk for infection. This exploratory study examines rates of vaccine acceptance and its association with psychological antecedents of vaccination among Latino/a immigrants. A cross-sectional telephone survey on perceptions of COVID-19 was administered between October 2020 to February 2021 in South Florida to 200 adult Latino/a immigrants. Descriptive statistics, bivariate analysis, and logistic regression were employed to determine the influence of independent variables on vaccine acceptance. Most participants indicated a willingness to get vaccinated. Participants with higher confidence (aOR = 10.2, 95% CI: 4.8-21.8) and collective responsibility scores were (aOR = 3.1, 95%CI:1.3-6.9) more likely to report vaccine acceptance than those with lower scores. No other psychological antecedents or demographic variables were significantly associated with vaccine acceptance. Study results provide insights into motivating factors for vaccination that can inform culturally tailored education campaigns to increase vaccine acceptability in this population.

Asunto(s)

Vacunas contra la COVID-19 , COVID-19 , Emigrantes e Inmigrantes , Hispánicos o Latinos , Vacunación , Adulto , Humanos , COVID-19/prevención & control , Vacunas contra la COVID-19/administración & dosificación , Estudios Transversales , Responsabilidad Social , Confianza , Aceptación de la Atención de Salud

RESUMEN

The use of recombinant fragments of the major surface glycoprotein (Msg) of Pneumocystis jirovecii has proven useful for studying serological immune responses of blood donors and human immunodeficiency virus (HIV)-positive (HIV(+)) patients. Here, we have used ELISA to measure antibody titres to Msg fragments (MsgA, MsgB, MsgC1, MsgC3, MsgC8 and MsgC9) in sera isolated in the USA (n=200) and Spain (n=326), to determine whether geographical location affects serological responses to these antigens. Blood donors from Seville exhibited a significantly greater antibody titre to MsgC8, and significantly lower responses to MsgC3 and MsgC9, than did Cincinnati (USA) donors. Spanish blood donors (n=162) also exhibited elevated responses to MsgC1, MsgC8 and MsgC9 as compared with Spanish HIV(+) (n=164) patients. HIV(+) patients who had Pneumocystis pneumonia (PcP(+)) exhibited a higher response to MsgC8 than did HIV(+) PcP(-) patients. These data show that geographical location plays a role in responsiveness to Msg fragments. Additionally, these fragments have utility in differentiating HIV(+) PcP and HIV(+) PcP(+) among patient populations.

Asunto(s)

Anticuerpos Antifúngicos/sangre , Antígenos Fúngicos , Glicoproteínas de Membrana , Infecciones por Pneumocystis/epidemiología , Pneumocystis carinii/inmunología , Proteínas Recombinantes , Antígenos Fúngicos/genética , Antígenos Fúngicos/inmunología , Donantes de Sangre , Ensayo de Inmunoadsorción Enzimática/métodos , Epítopos/inmunología , Humanos , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/inmunología , Infecciones por Pneumocystis/microbiología , Pneumocystis carinii/genética , Proteínas Recombinantes/genética , Proteínas Recombinantes/inmunología , Estudios Seroepidemiológicos , España/epidemiología , Estados Unidos/epidemiología

RESUMEN

Pneumonia caused by the opportunistic organism Pneumocystis jirovecii is a clinically important infection affecting AIDS and other immunocompromised patients. The present study aimed to compare and characterise the frequency pattern of DNA sequences from the P. jirovecii mitochondrial large-subunit rRNA (mtLSU rRNA) gene, the dihydropteroate synthase (DHPS) gene and the internal transcribed spacer (ITS) regions of the nuclear rRNA operon in specimens from Lisbon (Portugal) and Seville (Spain). Total DNA was extracted and used for specific molecular sequence analysis of the three loci. In both populations, mtLSU rRNA gene analysis revealed an overall prevalence of genotype 1. In the Portuguese population, genotype 2 was the second most common, followed by genotype 3. Inversely, in the Spanish population, genotype 3 was the second most common, followed by genotype 2. The DHPS wild-type sequence was the genotype observed most frequently in both populations, and the DHPS genotype frequency pattern was identical to distribution patterns revealed in other European studies. ITS types showed a significant diversity in both populations because of the high sequence variability in these genomic regions. The most prevalent ITS type in the Portuguese population was Eg, followed by Cg. In contrast to other European studies, Bi was the most common ITS type in the Spanish samples, followed by Eg. A statistically significant association between mtLSU rRNA genotype 1 and ITS type Eg was revealed.

Asunto(s)

ADN Mitocondrial/genética , ADN Espaciador Ribosómico/genética , Dihidropteroato Sintasa/genética , Pneumocystis carinii/clasificación , Análisis de Secuencia de ADN , Infecciones Oportunistas Relacionadas con el SIDA/epidemiología , Infecciones Oportunistas Relacionadas con el SIDA/microbiología , Adulto , Líquido del Lavado Bronquioalveolar/microbiología , Preescolar , ADN Mitocondrial/análisis , ADN Espaciador Ribosómico/análisis , Genotipo , Seronegatividad para VIH , Seropositividad para VIH , Humanos , Recién Nacido , Pneumocystis carinii/enzimología , Pneumocystis carinii/genética , Neumonía por Pneumocystis/epidemiología , Neumonía por Pneumocystis/microbiología , Portugal/epidemiología , España/epidemiología , Esputo/microbiología , Operón de ARNr

RESUMEN

The outcome of chronic hepatitis C virus infection varies, depending on viral and host factors. Those mechanisms involved in the control of the innate and adaptive response could have an influence on the outcome of infection. The PTPN22 gene encodes an intracellular lymphoid-specific phosphatase (Lyp) with a lymphocyte activating downregulatory effect. A single-nucleotide polymorphism (SNP) C1858T located on this gene has been associated with autoimmune diseases and bacterial infections. The aim of this study was to assess whether the PTPN22 C1858T polymorphism is related to the outcome of hepatitis C viral infection. A total of 69 patients with spontaneous viral clearance (SVC), 281 patients with chronic hepatitis C (CHC), and 1036 individuals not infected with hepatitis C (NIC) were included in this study. Patients with CHC were stratified according to Scheuer score of hepatic fibrosis from F0-F2 (n = 200) and F3-F4 (n = 81), and according to their response to therapy in patients with sustained responses (SR; n = 103) and non-sustained response (NSR; n = 104). Genotyping of the C1858T polymorphism was performed using TaqMan probes. No statistically significant differences in the distribution of PTPN22 C1858T polymorphism were observed upon comparison of patient group with the NIC group. Also, when the different patient groups were compared to one another, no statistically significant differences were detected: the SVC with the CHC group (10.2% versus 12.5%; p = 0.6), the F0-F2 with the F3-F4 group (11.5% versus 14.8%; p = 0.5), and the NSR with the SR group (11.5% versus 14.6%; p = 0.4). Our results do not support a major role of this polymorphism of the PTPN22 gene in the outcome of chronic hepatitis C virus infection in the Spanish population.

Asunto(s)

Hepacivirus/patogenicidad , Hepatitis C/genética , Interacciones Huésped-Patógeno , Mutación Missense , Polimorfismo Genético , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Adulto , Anciano , Femenino , Genotipo , Hepacivirus/fisiología , Hepatitis C/metabolismo , Hepatitis C/virología , Humanos , Masculino , Persona de Mediana Edad , Proteína Tirosina Fosfatasa no Receptora Tipo 22/metabolismo , Población Blanca/genética

RESUMEN

Particular alleles of human leucocyte antigen (HLA) and immunoglobulin gamma (GM) and immunoglobulin kappa (KM) allotypes (polymorphic determinants of IgG heavy chains and kappa-type light chains, respectively) are associated with the outcome of several infections. To examine their role in the outcome of hepatitis C virus (HCV) infection, we genotyped 50 individuals with resolved and 117 with persistent HCV infection. None of the GM, KM or HLA-C genotypes by themselves were associated with the resolution or persistence of HCV infection. However, particular combinations of HLA and GM genotypes were associated significantly with the outcome of HCV infection. Subjects with the HLA C1C1 genotype, in the absence of GM ff, were more than seven times [odds ratio (OR) 7.15] as likely to have persistent infection as the subjects who lacked both these genotypes. The presence of GM ff, in the absence of HLA C1C2, was associated with the resolution of infection (OR 0.27). The absence of GM fz, in the presence of HLA C2C2, was also associated with the resolution of infection (OR 0.27). Compared to the subjects who lacked both these genotypes, subjects with GM fz, in the absence of HLA C1C2, were almost four times as likely to have persistent infection (OR 3.91); similarly, subjects with HLA C1C2, in the absence of GM fz, were almost three times as likely to have persistent infection (OR 2.80). These results show, for the first time, interactive effects of GM and HLA genotypes in the outcome of HCV infection.

Asunto(s)

Antígenos HLA-C/genética , Hepatitis C Crónica/genética , Alotipos de Inmunoglobulina Gm/genética , Epistasis Genética , Femenino , Genes de Inmunoglobulinas , Predisposición Genética a la Enfermedad , Genotipo , Hepatitis C Crónica/inmunología , Prueba de Histocompatibilidad , Humanos , Alotipos Km de Inmunoglobulina/genética , Masculino

RESUMEN

Although asymptomatic carriers of Pneumocystis jirovecii with cystic fibrosis (CF) have been described previously, the molecular epidemiology of P. jirovecii in CF patients has not yet been clarified. This study identified the distribution and dynamic evolution of P. jirovecii genotypes based on the mitochondrial large-subunit (mt LSU) rRNA gene. The mt LSU rRNA genotypes of P. jirovecii isolates in 33 respiratory samples from CF patients were investigated using nested PCR and direct sequencing. Three different genotypes were detected: 36.3% genotype 1 (85C/248C); 15.1% genotype 2 (85A/248C); 42.4% genotype 3 (85T/248C); and 6% mixed genotypes. Patients studied during a 1-year follow-up period showed a continuous colonisation/clearance cycle involving P. jirovecii and an accumulative tendency to be colonised with genotype 3.

Asunto(s)

Portador Sano/epidemiología , Fibrosis Quística/complicaciones , Epidemiología Molecular , Pneumocystis carinii/genética , Neumonía por Pneumocystis/epidemiología , Adolescente , Adulto , Portador Sano/microbiología , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Masculino , Mitocondrias/genética , Pneumocystis carinii/clasificación , Neumonía por Pneumocystis/microbiología , Reacción en Cadena de la Polimerasa , ARN Ribosómico/genética , Análisis de Secuencia de ADN , España/epidemiología

RESUMEN

AIM: To assess whether CCL2 or interactions between this chemokine and its receptor (CCR2) are associated with outcomes of chronic hepatitis C and with responses to antiviral therapy. METHODS: Two hundred and eighty-four patients with chronic hepatitis C and 193 non-infected matched controls were included in this study. Patients were categorized according to their Scheuer score of hepatic fibrosis as F0-F2 (n = 202) or F3-F4 (n = 82) and according to their response to anti-Hepatitis C virus (HCV) therapy as sustained response (SR, n = 101) or non-sustained response (NSR, n = 98). Genotyping of the -2518 (A/G) CCL2 was performed using PCR-RFLP, genotyping of the 190 (A/G) CCR2 using a PCR-ARMS system, and genotyping of the rs3138042 (G/A) CCR2 using Taqman probes. RESULTS: Univariate analyses identified 4 parameters (infection duration time, viral genotype, gender and AST levels) that tended to influence fibrosis and 7 parameters (CCL2G, CCL2ACCR2A, viremia levels, fibrosis stage, viral genotype, infection duration time and AST levels) that significantly influenced or tended to influence response to treatment. Multivariate analysis identified gender and AST levels as parameters that independently influenced fibrosis stage and viral genotype and infection duration time were the two parameters that independently influenced response to treatment. CONCLUSION: Our results indicate that the mutations studied in the gene pair CCL2/CCR2 do not play a major role in the outcome and response to treatment for HCV infection in the Spanish population.

Asunto(s)

Antivirales/uso terapéutico , Quimiocina CCL2/fisiología , Hepatitis C/tratamiento farmacológico , Interferón Tipo I/uso terapéutico , Receptores de Quimiocina/fisiología , Ribavirina/uso terapéutico , Adulto , Anciano , Biopsia , Quimiocina CCL2/genética , Femenino , Genotipo , Hepatitis C/etnología , Hepatitis C/genética , Humanos , Hígado/patología , Masculino , Persona de Mediana Edad , Análisis Multivariante , Mutación/genética , Receptores CCR2 , Receptores de Quimiocina/genética , Proteínas Recombinantes , España , Resultado del Tratamiento

Asunto(s)

Fibrosis Quística/microbiología , Pneumocystis carinii/clasificación , Pneumocystis carinii/genética , Neumonía por Pneumocystis/microbiología , Polimorfismo Genético , Niño , Genes de ARNr/genética , Humanos , Pneumocystis carinii/aislamiento & purificación , ARN/genética , ARN Mitocondrial , Ribotipificación , España

RESUMEN

A prospective study was conducted to determine the prevalence of colonisation by Pneumocystis jirovecii in 80 consecutive patients who required bronchoscopy and bronchoalveolar lavage (BAL) following suspicion of interstitial lung disease (ILD). The mtLSU rRNA gene of P. jirovecii was identified by nested PCR in BAL samples. Patients with ILDs were divided into three groups: group A comprised those with idiopathic interstitial pneumonias; group B comprised those with sarcoidosis; and group C comprised those with other ILDs. The overall prevalence of P. jirovecii carriage was 33.8%, with colonisation rates of 37.8%, 18.8% and 37% in groups A, B and C, respectively (p not significant). There were more smokers among the carriers, but there were no other significant differences between carriers and non-carriers. The high prevalence of P. jirovecii carriers found among immunocompetent patients with ILDs in Spain suggests a possible role of P. jirovecii in the natural history of these diseases.

Asunto(s)

Enfermedades Pulmonares Intersticiales/epidemiología , Pneumocystis carinii , Neumonía por Pneumocystis/epidemiología , Adulto , Anciano , Líquido del Lavado Bronquioalveolar/microbiología , Femenino , Humanos , Inmunocompetencia , Masculino , Persona de Mediana Edad , Pneumocystis carinii/genética , Pneumocystis carinii/aislamiento & purificación , Prevalencia , Estudios Prospectivos , ARN de Hongos/genética , ARN Ribosómico/genética , España/epidemiología

RESUMEN

Pneumocystis jirovecii colonisation may occur among cystic fibrosis (CF) patients because of their underlying pulmonary disease. A wide epidemiological analysis was performed among CF patients from Spain to assess the prevalence of P. jirovecii colonisation and the distribution of different genotypes. P. jirovecii was identified by nested PCR targeting the mitochondrial large-subunit rRNA gene from sputum samples or oropharyngeal washes. The genotype was determined by direct sequencing. The prevalence of P. jirovecii colonisation among 88 consecutive CF patients was 21.5%. The polymorphisms identified were 85C/248C (45.4%), 85T/248C (27.2%) and 85A/248C (18.1%); in one case, a mix of genotypes was found. Colonisation was more frequent in subjects aged < 18 years (25.5% vs. 15.1%). Among the patients studied, 20.8% received treatment with azithromycin; all of these patients were colonised with P. jirovecii, but none developed Pneumocystis pneumonia (PcP) during a 1-year follow-up period. Concordance in the colonisation status of siblings suggested a common source of infection or person-to-person transmission.

Asunto(s)

Fibrosis Quística/complicaciones , Pneumocystis carinii/genética , Neumonía por Pneumocystis/epidemiología , Adolescente , Adulto , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Masculino , Pneumocystis carinii/crecimiento & desarrollo , Pneumocystis carinii/aislamiento & purificación , Neumonía por Pneumocystis/complicaciones , Neumonía por Pneumocystis/microbiología , Prevalencia , España/epidemiología

RESUMEN

The modes of infection and transmission of Pneumocystis jiroveci remain unclear. This study explored the relationship between the incidence of infection and climatic factors. In total, 536 cases of P. jiroveci infection were identified in the period 1994-1998, with an inverse correlation between the incidence of Pneumocystis pneumonia and the minimum mean ambient temperature (Spearman correlation coefficient: r - 0.30; p 0.02; ARIMA model: r - 0.250, p 0.07). The highest number of cases occurred in winter (anova test, p < 0.05), and there was a clear season-related incidence of P. jiroveci infection.

Asunto(s)

Clima , Pneumocystis carinii , Neumonía por Pneumocystis/epidemiología , Humanos , Incidencia , Estaciones del Año , España/epidemiología

RESUMEN

Since mutations in the dihydropteroate synthase (DHPS) gene possibly associated with sulfonamide resistance have been reported in patients with Pneumocystis jiroveci (previously carinii) pneumonia, and since P. jiroveci colonization has been recently demonstrated in patients with chronic pulmonary diseases, the present study aimed to investigate the possible occurrence of P. jiroveci DHPS mutations in patients with chronic bronchitis. P. jiroveci colonization was detected in 15 of 37 non-selected patients with chronic bronchitis by amplifying the large subunit of the mitochondrial gene of the ribosomal RNA using nested PCR. DHPS mutations were demonstrated using touchdown PCR and restriction enzyme analysis in two of eight patients with chronic bronchitis and in two of six patients from the same region who had AIDS-associated Pneumocystis pneumonia. In all cases, mutations were observed in subjects with no prior exposure to sulfonamides. These data could have important implications for public health, since (i) P. jiroveci colonization could speed the progression of chronic bronchitis, and (ii) these patients, who are customary sputum producers, could represent a reservoir for sulfonamide-resistant strains with the potential ability to transmit them to immunocompromised hosts susceptible to Pneumocystis pneumonia.

Asunto(s)

Bronquitis Crónica/inmunología , Dihidropteroato Sintasa/genética , Inmunocompetencia , Mutación , Infecciones por Pneumocystis/epidemiología , Pneumocystis carinii/genética , Distribución por Edad , Anciano , Análisis de Varianza , Secuencia de Bases , Bronquitis Crónica/epidemiología , Bronquitis Crónica/microbiología , Líquido del Lavado Bronquioalveolar/microbiología , Estudios de Casos y Controles , ADN Bacteriano/análisis , Dihidropteroato Sintasa/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Infecciones por Pneumocystis/diagnóstico , Infecciones por Pneumocystis/genética , Pneumocystis carinii/aislamiento & purificación , Reacción en Cadena de la Polimerasa/métodos , Prevalencia , Probabilidad , Medición de Riesgo , Muestreo , Distribución por Sexo , España/epidemiología , Estadísticas no Paramétricas

RESUMEN

This study describes the genotype distribution of Pneumocystis jiroveci in 79 respiratory samples obtained from 15 patients with acquired immunodeficiency syndrome (AIDS) with P. jiroveci pneumonia and 64 human immunodeficiency virus-negative subjects with different chronic pulmonary diseases. The genotyping was based in analysis of 2 independent genetic loci: the mitochondrial large subunit ribosomal RNA (mt LSU rRNA) fragment (assessed by direct sequencing) and the gene for dihydropteroate synthase (DHPS; assessed by restriction fragment-length polymorphism). The mt LSU rRNA analysis revealed the presence of 3 different polymorphisms for both populations. The major genotype, 85C/248C, was found to be significantly higher in patients with AIDS and P. jiroveci pneumonia than in patients with pulmonary disease. The rate of genotypes 85A/248C and 85T/248C was similar in both groups. The analysis of DHPS genotypes assesses the prevalence of its 4 possible genotypes, with 35.5% of genotypes related to sulfa resistance. The data suggest a common source of infection between both groups.

Asunto(s)

Frecuencia de los Genes , Genotipo , Pneumocystis carinii/genética , Infecciones por VIH/microbiología , Humanos , Enfermedades Pulmonares/microbiología , Neumonía por Pneumocystis/microbiología , España

RESUMEN

In order to investigate the impact of Pneumocystis carinii infection in southern Spain following the introduction of highly active anti-retroviral therapy (HAART), all cases of pneumocystosis between 1998 and 1999 were identified from data compiled by the national surveillance system. In total, 498 cases of pneumocystosis were recorded, of which 87% involved HIV-positive patients. The mean age, length of hospital stay and mortality were higher for HIV-negative patients. There was a higher number of cases in winter. Despite HAART implementation, pneumocystosis remains a significant health problem for both HIV-positive and HIV-negative patients.

Asunto(s)

Infecciones Oportunistas Relacionadas con el SIDA/epidemiología , Infecciones por VIH/complicaciones , Seronegatividad para VIH , Neumonía por Pneumocystis/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Terapia Antirretroviral Altamente Activa , Niño , Femenino , Infecciones por VIH/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Pneumocystis carinii , Neumonía por Pneumocystis/mortalidad , Prevalencia , Estaciones del Año , España/epidemiología

RESUMEN

BACKGROUND: Tobacco smoking is the most important but not the only risk factor in lung carcinoma. There is evidence that certain infections, which cause chronic inflammatory reactions, can also induce tumour development. It has recently been shown that patients with chronic pulmonary diseases present a high rate of subclinical Pneumocystis infection, and that the latter is able to induce inflammatory responses and alveolar cell alterations. The possible role of Pneumocystis infection in the development of lung neoplasms thus deserves consideration. MATERIAL AND METHODS: Polymerase chain reaction has been used to analyze the presence of DNA of two independent loci of the Pneumocystis genome: the mitochondrial region (mtLSU rRNA) and the gene encoding for the dihydropteroate synthase enzyme, in paraffin-embedded tissue blocks of 10 cases of small cell lung carcinoma (SCLC) and 10 cases of nonsmall cell lung carcinoma (NSCLC) with similar demographic and clinical characteristics. Five cases without lung pathology, and two cases of Pneumocystis pneumonia were also analyzed as controls. RESULTS: DNA of the microorganism was found in all the cases of SCLC but in only two of the NSCLC, and in none of the controls without pulmonary disease - thus implying a statistically significant association (P < 0.0001) between subclinical Pneumocystis infection and SCLC. CONCLUSIONS: While the nature of this association is not clear, it nevertheless constitutes an important finding - either the infection is specifically facilitated by this tumour or induces the development of this type of neoplasm in combination with other factors. Eur J Clin Invest 2004; 34 (3): 229-335

Asunto(s)

Carcinoma de Células Pequeñas/microbiología , Neoplasias Pulmonares/microbiología , Pneumocystis carinii/aislamiento & purificación , Neumonía por Pneumocystis/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Pulmón de Células no Pequeñas/microbiología , Carcinoma de Células Pequeñas/secundario , ADN Bacteriano/análisis , Femenino , Genes Bacterianos , Humanos , Masculino , Persona de Mediana Edad , Pneumocystis carinii/genética

RESUMEN

BACKGROUND AND AIMS: The solute carrier family 11 member 1 (SLC11A1) gene (formerly Nramp1) encodes for the protein solute carrier family 11, member 1. It affects susceptibility and clinical outcome of autoimmune and infectious diseases. We investigated the possible role of the functional polymorphism located in the promoter region of SLC11A1 and tumour necrosis factor (TNF) genes in the progression of fibrosis in chronic hepatitis C. METHODS: A total of 242 Caucasian Spanish patients with biopsy proven chronic hepatitis C and 194 healthy control subjects were genotyped for SLC11A1 and TNF promoter polymorphisms. RESULTS: No significant differences in the distribution of frequencies among patient and control groups were observed. The SCL11A1 homozygous 2/2 genotype was rarely detected among patients showing advanced fibrosis (2/82; 2.4%) but was highly represented in those with mild fibrosis (29/160; 18.1%; odds ratio (OR) 8.85 (95% confidence interval (CI) 1.9-55.2, p(c) = 0.002). In patients carrying allele 3 of SLC11A1, the presence of -238 TNF A/G was associated with advanced fibrosis (14/26 (53.8%) v 68/216 (31.4%); OR 2.53 (95% CI 1.03-6.23); p = 0.02). CONCLUSIONS: SLC11A1 gene promoter polymorphism could influence fibrosis progression in chronic hepatitis C in that the homozygous genotype 2/2 exerts a protective effect against cirrhosis development. Also, the combination of TNF -238 A/G and the presence of allele 3 is conducive to progression to pre-cirrhotic or cirrhotic stages of the disease.

Asunto(s)

Proteínas de Transporte de Catión/genética , Hepatitis C Crónica/genética , Cirrosis Hepática/genética , Polimorfismo Genético , Regiones Promotoras Genéticas/genética , Adulto , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad , Genotipo , Hepatitis C Crónica/complicaciones , Humanos , Cirrosis Hepática/virología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Factor de Necrosis Tumoral alfa/genética , Viremia/genética

RESUMEN

BACKGROUND: Autoantibodies against discrete variable-sized dots observed in HEp2 cells by indirect immunofluorescence (IIF) test, called multiple nuclear dots (MND), have been closely associated with primary biliary cirrhosis (PBC). Some authors have argued that this antibody is also present in connective tissue diseases or liver diseases other than PBC as autoimmune chronic active hepatitis, particularly of the cholestatic type. We studied an unselected group of patients routinely tested for autoantibodies and positive for the MND pattern and tried to establish the correlation between the presence of this antibody and their diagnosis. METHODS: A commercial ELISA test, using a recombinant 26 kD truncated sequence of the Sp100 protein, corresponding to an immunodominant molecular region, was used to assess the clinical correlation of these autoantibodies in 110 patients showing an anti-MND immunofluorescence pattern. RESULTS: One-hundred-and-ten patients were MND positive by IIF. Of these, 100 were Sp100 positive by ELISA. In the Sp100 positive group, 34 had a diagnosis of PBC (30 definite and 4 suspected) while 15 patients had a non-PBC hepatopathy. Unexpectedly, 13 of the MND/Sp100 positive pattern corresponded to systemic lupus erythematosus (SLE) patients and 5 cases to collagen diseases. Another divergence with previous reports was that 34 of the positive patients showed very heterogeneous clinical pictures, different from hepatopathies or collagen diseases. CONCLUSIONS: Anti-Sp100 antibodies can be found in many clinical conditions. Testing for MND/Sp100 positivity is useful for the diagnosis of PBC, but only when the right clinical context is present. Other diseases cannot be excluded in first line SLE.

Asunto(s)

Antígenos Nucleares/inmunología , Autoanticuerpos/sangre , Autoantígenos/inmunología , Cirrosis Hepática Biliar/inmunología , Lupus Eritematoso Sistémico/inmunología , Proteínas Nucleares/inmunología , Antígenos Nucleares/sangre , Autoantígenos/sangre , Ensayo de Inmunoadsorción Enzimática , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Cirrosis Hepática Biliar/sangre , Cirrosis Hepática Biliar/diagnóstico , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/diagnóstico , Proteínas Nucleares/sangre

RESUMEN

We report on a Spanish family in which three members of different generations were diagnosed with hereditary spherocytosis (HS). Additionally, one of them II-I (44-years-old), presented iron overload with hepatic deposit and needed treatment with periodic phlebotomies. The rest of the family members presented normal analytical values in iron metabolism. To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. We propose a synergistic effect of HS and mutations in HFE as the cause of the iron deposits.

Asunto(s)

Antígenos de Histocompatibilidad Clase I/genética , Proteínas de la Membrana/genética , Mutación , Esferocitosis Hereditaria/genética , Adulto , Familia , Femenino , Proteína de la Hemocromatosis , Humanos , Masculino , Linaje , Polimorfismo de Nucleótido Simple

RESUMEN

La diabetes mellitus (DM) es una enfermedad cuyas múltiples facetas hacen necesario aunar diferentes disciplinas en la batalla contra sus múltiples problemas (Williams y Pickup 2000) ,muy común entre los mayores-18 por ciento de las personas de la Tercera Edad son diabéticas, y más de la mitad de la poblacion diabética tiene más de 60 años. Así pues la DM producida por la compleja interacción de factores genéticos y ambientales es común en el mayor, pero no es nunca “normal” ni “benigna” en su impacto. Sino que aboca a anormalidades metabólicas de las que la hiperglucemia produce numerosos efectos deletéreos y predice el riesgo de complicaciones desembocando al deterioro funcional, envejecimiento acelerado, disminuida calidad de vida, y que se asocia a cronicidad con complicaciones microvasculares como la retinopatía, nefropatía, neuropatía y macrovasculares con atheroesclerosis acelerada, mayor susceptibilidad a la infección y aumentada mortalidad.Los criterios diagnósticos para DM no cambian en el anciano, cambia su expresión clínica con síntomas atípicos o inicio por una de sus complicaciones avanzadas, diagnosticada la monitorizacion casera de la hiperglucemia no siempre fácil en el mayor nos alerta sobre la hipoglucemia perfil glucémico índice glucémico de los alimentos y es basico en el seguimiento. Los avances en la fisiopatología de la diabetes tipo 2 son incesantes y mejoran estas perspectivas. En los diabéticos mayores hay que prestar especial atención a estimular el ejercicio físico, a modificar la dieta de toda la vida, con el riesgo de hipoglucemia con las insulinas de acción intermedia, y a las nuevas terapéuticas preventivas inmunológicas en la IDDM tipo I y del régimen de vida, ejercicio y cambio alimentario en la NIDDM tipo II que han potenciado un tratamiento mas efectivo de la diabetes senil para el año 2002. (AU)

Asunto(s)

Anciano , Persona de Mediana Edad , Humanos , Diabetes Mellitus/fisiopatología , Diabetes Mellitus/clasificación , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/terapia