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1.
Nutrients ; 12(6)2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32604710

RESUMO

People suffering from a food intolerance (FI) tend to initiate restrictive diets such as a gluten-free diet (GFD), to alleviate their symptoms. To learn about how people live with these problems in daily life (independent of their medical diagnoses), 1203 participants answered a previously validated questionnaire and were divided into: G1 (those self-reporting symptoms after gluten consumption) and G2 (those informing no discomfort after gluten consumption). Self-reported clinical characteristics, diagnoses and diets followed were registered. Twenty nine percent referred some FI (8.5% in G1). In G1, self-reported diagnoses were more frequent (p < 0.0001), including a high proportion of eating and mood disorders. Diagnoses were reported to be given by a physician, but GFD was indicated by professional and nonprofessional persons. In G2, despite declaring no symptoms after gluten consumption, 11.1% followed a GFD. The most frequent answer in both groups was that GFD was followed "to care for my health", suggesting that some celiac patients do not acknowledge it as treatment. Conclusion: close to one third of the population report suffering from some FI. Those perceiving themselves as gluten intolerant report more diseases (p < 0.0001). A GFD is followed by ~11% of those declaring no symptoms after gluten ingestion. This diet is perceived as a healthy eating option.


Assuntos
Intolerância Alimentar/dietoterapia , Intolerância Alimentar/diagnóstico , Glutens/efeitos adversos , Autorrelato , Adulto , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Chile , Dieta Livre de Glúten , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/dietoterapia , Glutens/administração & dosagem , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
2.
Nutrients ; 12(1)2020 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-31935859

RESUMO

The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994-2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.


Assuntos
Índice de Massa Corporal , Doença Celíaca/complicações , Dieta Livre de Glúten , Estado Nutricional , Obesidade Infantil , Magreza/etiologia , Aumento de Peso , Fatores Etários , Autoanticorpos , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Doença Celíaca/epidemiologia , Criança , Pré-Escolar , Chile/epidemiologia , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/dietoterapia , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/dietoterapia , Gastroenteropatias/epidemiologia , Gastroenteropatias/etiologia , Hospitais , Humanos , Lactente , Masculino , Sobrepeso , Prevalência , Magreza/diagnóstico , Magreza/dietoterapia , Magreza/epidemiologia
3.
Rev. chil. pediatr ; 90(6): 632-641, dic. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1058194

RESUMO

INTRODUCCIÓN: La dieta libre de gluten (DLG) de por vida es el tratamiento de la enfermedad celiaca (EC). Sien do una dieta restrictiva, impone limitaciones en la vida diaria y puede repercutir en la calidad de vida relacionada a la salud (CVRS). Nuestro objetivo fue evaluar la CVRS de pacientes celíacos en DLG, la concordancia entre pacientes-cuidador/a, y comparar la situación local con experiencias internacionales. PACIENTES Y MÉTODO: Se evaluaron pacientes de 8-18 años en DLG > 6 meses (37 diadas). Se les aplicó el "Celiac Disease Dutch Questionnaire" (CDDUX), que evalúa en 2 cuestio narios (uno al niño y otro al cuidador/padre), tres áreas: i) el tener EC, ii) la comunicación con otros y iii) la dieta. Se evaluó la confiabilidad, la dimensionalidad, y la consistencia interna mediante el coeficiente de Cronbach. RESULTADOS: Más del 50% de los pacientes y cuidadores reportan bien/ muy bien en las sub-escalas "tener enfermedad" y "dieta libre de gluten"; "comunicación" mostró altos porcentajes de mal/muy mal. No hubo diferencias significativas en la CVRS percibida por pacientes y cuidadores (global y sub-escala). Sí las hubo al analizar las respuestas de las/los cuida dores, que asignaron mejores puntajes a los pacientes varones (p = 0,022) y a quienes seguían DLG de manera no estricta (p = 0,049). La concordancia entre pacientes y cuidadores fue 39,2%. DISCUSIÓN: La CVRS de los pacientes evaluados aparece como satisfactoria, de las mejores reportadas en latinoamericana. El manejo de "tener EC" y la necesidad de mantener una "DLG" influyen menos en la CVRS que el tener que comunicarse con otros acerca de la enfermedad. La concordancia encontrada sugiere que la percepción del cuidador/a no refleja necesariamente lo que percibe el paciente.


INTRODUCTION: The lifelong gluten-free diet (GFD) is the treatment of celiac disease (CD). Being a restrictive diet, it limits daily life and can impact on the health-related quality of life (HRQoL). Our objective was to assess HRQoL of celiac patients on a GFD, the concordance between patients - caregivers, and to compare the local results with international data. PATIENTS AND METHOD: Patients aged 8-18 years on a GFD for >6months (37 dyads) were evaluated. The "Celiac Disease Dutch Questionnaire" (CDDUX) was applied, which evaluates in two questionnaires (one applied to the child and another one to the caregiver/parent), three areas: i) having CD, ii) communication with others, and iii) the diet. Reliability, dimensionality, and internal consistency were assessed using the Cronbach coefficient. RESULTS: More than 50% of patients and caregivers reported "well/very well" on sub-scales "having CD" and "GFD"; "communication" showed high percentages of "bad/very bad". Although there were no significant differences in HRQoL (global and subscale) perceived by patients and caregivers, there were when analyzing the answers of caregivers, who assigned better scores to boys (p=0.022) and to patients maintaining a non-strict GFD (p=0.049). Concordance between patients and caregivers was 39.2%. DISCUSSION: HRQoL of the assessed celiac children was satisfactory, among the best repor ted in Latin America. "Having CD" and the need for a "GFD" have less influence on HRQoL than "communication" with others about the disease. The concordance found suggests that the caregivers' perception does not necessarily reflect what patients perceive.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Qualidade de Vida , Doença Celíaca/dietoterapia , Inquéritos Epidemiológicos , Dieta Livre de Glúten/psicologia , Doença Celíaca/psicologia , Chile , Estudos Transversais , Cuidadores
4.
Rev Chil Pediatr ; 90(6): 632-641, 2019 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32186586

RESUMO

INTRODUCTION: The lifelong gluten-free diet (GFD) is the treatment of celiac disease (CD). Being a restrictive diet, it limits daily life and can impact on the health-related quality of life (HRQoL). Our objective was to assess HRQoL of celiac patients on a GFD, the concordance between patients - caregivers, and to compare the local results with international data. PATIENTS AND METHOD: Patients aged 8-18 years on a GFD for >6months (37 dyads) were evaluated. The "Celiac Disease Dutch Questionnaire" (CDDUX) was applied, which evaluates in two questionnaires (one applied to the child and another one to the caregiver/parent), three areas: i) having CD, ii) communication with others, and iii) the diet. Reliability, dimensionality, and internal consistency were assessed using the Cronbach coefficient. RESULTS: More than 50% of patients and caregivers reported "well/very well" on sub-scales "having CD" and "GFD"; "communication" showed high percentages of "bad/very bad". Although there were no significant differences in HRQoL (global and subscale) perceived by patients and caregivers, there were when analyzing the answers of caregivers, who assigned better scores to boys (p=0.022) and to patients maintaining a non-strict GFD (p=0.049). Concordance between patients and caregivers was 39.2%. DISCUSSION: HRQoL of the assessed celiac children was satisfactory, among the best repor ted in Latin America. "Having CD" and the need for a "GFD" have less influence on HRQoL than "communication" with others about the disease. The concordance found suggests that the caregivers' perception does not necessarily reflect what patients perceive.


Assuntos
Doença Celíaca/dietoterapia , Dieta Livre de Glúten/psicologia , Inquéritos Epidemiológicos , Qualidade de Vida , Adolescente , Cuidadores , Doença Celíaca/psicologia , Criança , Chile , Estudos Transversais , Feminino , Humanos , Masculino
5.
J Pediatr Gastroenterol Nutr ; 66(5): 785-788, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29135820

RESUMO

BACKGROUND: Current reports applying ESPGHAN exception criteria (EEC) to diagnose celiac disease (CD) without duodenal biopsies indicate that a high percentage of patients with CD may be identified when applied correctly in specialized settings. Application of the EEC, however, in "daily life conditions" at the different levels of medical services is not clear. METHODS: EEC was applied to 130 pediatric patients evaluated for CD at 5 public hospitals in Santiago, Chile, during 2010 to 2015. Clinical presentation, serum anti-tissue transglutaminase 2 and anti-endomysium antibodies (EMA), genotyping, and small intestinal histology were obtained from clinical charts. RESULTS: A total of 78 of 130 patients reviewed had some of the data required for analysis, but EMA was determined in 54% and genotyping in 2.3% of patients, limiting the study. After offering free genotyping, only 12 of 78 (15%) had all data required for EEC application. In this small group, 10 of 12 (83.3%) patients could avoid duodenal biopsies and 2 (16.7%) with potential CD were misdiagnosed. Main reasons for not doing EMA and genotyping were that they are expensive, unavailable in the local health care center, and considered "not necessary" for diagnosis. CONCLUSION: Limited resources in clinical settings reduce availability of EMA and genotyping, making application of EEC criteria difficult and only possible only in 15% of our patients. Within this subgroup, biopsies could be avoided in 83.3%, and 16.7% of patients with potential CD were misdiagnosed. Insufficient studies and incorrect interpretation of EEC contributed to incomplete assessment in 52 of 130 (40%) patients. The Chilean public health system is likely representative of several others present in developing and developed countries.


Assuntos
Doença Celíaca/diagnóstico , Erros de Diagnóstico/estatística & dados numéricos , Intestino Delgado/patologia , Padrões de Prática Médica/estatística & dados numéricos , Adolescente , Autoanticorpos/sangue , Biópsia/estatística & dados numéricos , Criança , Pré-Escolar , Chile , Endoscopia do Sistema Digestório/estatística & dados numéricos , Feminino , Técnicas de Genotipagem/estatística & dados numéricos , Fidelidade a Diretrizes , Humanos , Imunoglobulina A/sangue , Masculino , Guias de Prática Clínica como Assunto , Proteína 2 Glutamina gama-Glutamiltransferase
7.
Artigo em Inglês | MEDLINE | ID: mdl-28879170

RESUMO

HIGHLIGHTS What is already known about this subject?Celiac disease (CD) has a high clinical and histological diversity and the mechanisms underlying this phenomenon remain elusive.H. pylori is a bacterium that chronically infect gastric and duodenal mucosa activating both a Th1/Th17 and T-reg pathways.The role of H. pylori (and the effect of their virulence factors) in CD have not yet completely elucidated.What are the new findings?cagA+ H. pylori strains are associated to milder histological damage in infected CD patients.In active-CD patients the presence of cagA+ H. pylori is associated to an increase in T-reg markers, contrasting with a downregulation in cagA+ infected potential-CD individuals.How might it impact on clinical practice in the foreseeable future?The identification of microbiological factors that could modulate inflammation and clinical expression of CD may be used in the future as preventive strategies or as supplementary treatment in patients that cannot achieve complete remission, contributing to the better care of these patients. Background: Mechanisms underlying the high clinical and histological diversity of celiac disease (CD) remain elusive. Helicobacter pylori (Hp) chronically infects gastric and duodenal mucosa and has been associated with protection against some immune-mediated conditions, but its role (specifically of cagA+ strains) in CD is unclear. Objective: To assess the relationship between gastric Hp infection (cagA+ strains) and duodenal histological damage in patients with CD. Design: Case-control study including patients with active-CD, potential-CD and non-celiac individuals. Clinical presentation, HLA genotype, Hp/cagA gene detection in gastric mucosa, duodenal histology, Foxp3 positive cells and TGF-ß expression in duodenal lamina propria were analyzed. Results: We recruited 116 patients, 29 active-CD, 37 potential-CD, and 50 non-CD controls. Hp detection was similar in the three groups (~30-40%), but cagA+ strains were more common in infected potential-CD than in active-CD (10/11 vs. 4/10; p = 0.020) and non-CD (10/20; p = 0.025). Among active-CD patients, Foxp3 positivity was significantly higher in subjects with cagA+ Hp+ compared to cagA- Hp+ (p < 0.01) and Hp- (p < 0.01). In cagA+ Hp+ individuals, Foxp3 positivity was also higher comparing active- to potential-CD (p < 0.01). TGF-ß expression in duodenum was similar in active-CD with cagA+ Hp+ compared to Hp- and was significantly downregulated in cagA+ potential-CD subjects compared to other groups. Conclusion: Hp infection rates were similar among individuals with/without CD, but infection with cagA+ strains was associated with milder histological damage in celiac patients infected by Hp, and in active-CD cases with higher expression of T-reg markers. Results suggest that infection by cagA+ Hp may be protective for CD progression, or conversely, that these strains are prone to colonize intestinal mucosa with less severe damage.


Assuntos
Antígenos de Bactérias/metabolismo , Proteínas de Bactérias/metabolismo , Doença Celíaca/complicações , Infecções por Helicobacter/complicações , Infecções por Helicobacter/patologia , Helicobacter pylori/patogenicidade , Adolescente , Adulto , Antígenos de Bactérias/genética , Proteínas de Bactérias/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Chile , Duodeno/microbiologia , Duodeno/patologia , Feminino , Fatores de Transcrição Forkhead/metabolismo , Mucosa Gástrica/microbiologia , Mucosa Gástrica/patologia , Genes Bacterianos/genética , Genótipo , Infecções por Helicobacter/microbiologia , Helicobacter pylori/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fator de Crescimento Transformador beta/metabolismo , Fatores de Virulência , Adulto Jovem
8.
Meta Gene ; 7: 1-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30941281

RESUMO

INTRODUCTION: FokI polymorphism has been associated with obesity and type 2 diabetes (T2D) in some populations. OBJECTIVE: To investigate the frequencies of a genetic polymorphism of Vitamin D receptor (FokI) in patients with T2D and control subjects and investigate the role of 1,25(OH)2D3 in the expression of pro-inflammatory markers in peripheral blood mononuclear cells (PBMCs). METHODS: The case-control study was conducted in 160 patients with T2D and 160 control subjects, men and women (30-74 years old). The genotype and allele frequency of FokI polymorphisms were determined in these subjects. Subsequently a subgroup of 40 subjects was included from which PBMCs were removed. In vitro, the culture medium was supplemented with two different concentrations of 1,25(OH)2D3(10- 8 M and 10- 10 M). The expression profiles of TNFα and mRNA were analysed by qPCR, and GAPDH and ß-actin were used as housekeeping genes. RESULTS: The control subjects have an increased frequency of the FF genotype. In subjects with T2D, the ff genotype was associated with higher HOMA-IR values than individuals with genotype Ff (p = 0.021). In vitro study in PBMCs showed differential expression of TNFα mRNA by FokI genotype, with a lower expression of this marker of inflammation in FF genotype subjects at a concentration of 10- 8 M of 1,25(OH)2D3. CONCLUSION: Our data suggest that VDR FokI polymorphism is associated with T2D, and the genotypes Ff and ff of this variant show a reduced response or resistance to the anti-inflammatory action of VitD, which could indicate a functional role of FokI polymorphism of VDR.

9.
Rev. méd. Chile ; 143(12): 1521-1526, dic. 2015. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-774436

RESUMO

Background: Active search of celiac disease (CD) among risk groups has significantly increased the scope of known clinical variants. Aim: To measure the frequency and clinical characteristics of CD among first degree relatives (FDR) of known celiac cases. Material and Methods: Between January 2012-August 2013, 37 patients with celiac disease brought 113 FDR for assessment. Their clinical data was recorded and a blood sample was obtained to measure serum Immunoglobulin A (IgA) levels, anti-transglutaminase (tTG) and anti-endomisial (EMA) antibodies. Cases with positive serology were advised to have an intestinal biopsy. Results: Fourteen relatives (12.4%) had positive serological results and none had IgA deficiency. Among IgA-tTG (-) cases, measurement of IgA/IgG-tTG identified an additional case. Two of the 14 relatives were EMA positive. All 14 cases were advised to have an intestinal biopsy, but only 6 accepted the procedure. In two, the intestinal lesion was classified Marsh ≥ 2 and active CD was diagnosed. Histology in the remaining four was Marsh 0/1 and were diagnosed potential CD, remaining under control, without gluten free diet. Conclusions: Serological prevalence of CD among first degree relatives of known celiac cases was 15 fold greater than in THE general Chilean population, strongly supporting the idea of implementing active search to customary clinical practice. Determination of IgA/IgG-tTG may be useful to improve the yield of active search. Intestinal biopsies were crucial to differentiate active classic CD from potential CD.


Assuntos
Humanos , Acidentes por Quedas , Fraturas Ósseas , Osteoporose , Sarcopenia
10.
Nutrients ; 7(6): 4955-65, 2015 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-26096569

RESUMO

HLA-linked genes are relevant to celiac disease (CD); the potential genetic differences present worldwide are not fully understood. Previous results suggest that the distribution of HLA-DQ2/DQ7/DQ8 in Chile may differ from that in Europe and North America. In celiac patients and their first-degree relatives (FDRS), we assessed their clinical, serological and histological characteristics, determined HLA-DQ2, HLA-DQ7 and HLA-DQ8 alleles and genotypes, and evaluated the relations between them. A total of 222 individuals were assessed (56 cases, 166 FDRs). 16.9% of FDRs were tTG positive; 53.6% of them showed overweight/obesity and 3% undernourishment; they spontaneously declared being asymptomatic, but detailed questioning revealed that 60.7% experienced symptoms, which had not been investigated. DQ2 was present in 53.9% and 43.9.0% of cases and FDRs (p < 0.05). The most frequent genotype distribution was DQ2/DQ7 (fr 0.392 (cases) and 0.248 (FDRs), respectively, p < 0.02). The next most common genotypes were HLA-DQ2/DQ8 (fr 0.236 in FDRs and 0.176 in cases, p < 0.05). 3.92% cases were not HLA-DQ2/DQ8 carriers. Among tTG positive FDRs, 57.4%, 22.3% and 20.2% carried DQ2, DQ7 and DQ8, respectively. In cases, 72.7% of the biopsies classified Marsh ≥ 3 carried at least one DQ2; 91.7% of DQ2/DQ2 and 88.3% of DQ2/DQ7 were Marsh ≥ 3. Thus, DQ2 frequency is lower than reported; the higher frequency found for DQ8 and DQ7 concur with recent publications from Argentine and Brazil. These results suggest that although CD may manifest clinically in ways similar to those described in other populations, some genetic peculiarities in this region deserve further study.


Assuntos
Doença Celíaca/genética , Antígenos HLA-DQ/genética , Adolescente , Alelos , Doença Celíaca/diagnóstico , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Masculino
11.
Rev Med Chil ; 143(12): 1521-6, 2015 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-26928612

RESUMO

BACKGROUND: Active search of celiac disease (CD) among risk groups has significantly increased the scope of known clinical variants. AIM: To measure the frequency and clinical characteristics of CD among first degree relatives (FDR) of known celiac cases. MATERIAL AND METHODS: Between January 2012-August 2013, 37 patients with celiac disease brought 113 FDR for assessment. Their clinical data was recorded and a blood sample was obtained to measure serum Immunoglobulin A (IgA) levels, anti-transglutaminase (tTG) and anti-endomisial (EMA) antibodies. Cases with positive serology were advised to have an intestinal biopsy. RESULTS: Fourteen relatives (12.4%) had positive serological results and none had IgA deficiency. Among IgA-tTG (-) cases, measurement of IgA/IgG-tTG identified an additional case. Two of the 14 relatives were EMA positive. All 14 cases were advised to have an intestinal biopsy, but only 6 accepted the procedure. In two, the intestinal lesion was classified Marsh ≥ 2 and active CD was diagnosed. Histology in the remaining four was Marsh 0/1 and were diagnosed potential CD, remaining under control, without gluten free diet. CONCLUSIONS: Serological prevalence of CD among first degree relatives of known celiac cases was 15 fold greater than in THE general Chilean population, strongly supporting the idea of implementing active search to customary clinical practice. Determination of IgA/IgG-tTG may be useful to improve the yield of active search. Intestinal biopsies were crucial to differentiate active classic CD from potential CD.


Assuntos
Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Família , Imunoglobulina A/sangue , Adolescente , Adulto , Biópsia , Doença Celíaca/genética , Criança , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Transglutaminases/imunologia , Adulto Jovem
12.
Immunobiology ; 216(1-2): 208-12, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-20542587

RESUMO

INTRODUCTION: Deregulation of apoptosis across the Fas-FasL pathway is an increasingly relevant phenomenon in the pathogenic mechanisms associated with autoimmune diseases. Caspase-8 initiates the activation of the apoptotic process and interacts directly with Fas in the membrane of the T lymphocyte. OBJECTIVES: To standardize an Elisa essay to measure the concentration of anti-caspase-8 antibodies in plasma of Type 1 Diabetes (T1D) patients and analyze their possible distribution and association with characteristics of the disease. METHODS AND SUBJECTS: 124 patients newly diagnosed with T1D and 132 controls: children and youngsters. ELISA test was standardized to detect anti-caspase-8 antibodies in plasma. It correlated the concentration of this antibody with classical markers of autoimmunity as anti-IA-2 and anti-GAD65, and the clinical characteristics at onset of diabetes mellitus. The statistical analysis was performed using logistic regression. RESULTS: Patients with T1D showed a higher concentration of anti-caspase-8 antibodies regarding the controls (87.5 ng/ml versus 24.3 ng/ml, p < 0.0001, values expressed as median). The proportion of patients with T1D and high concentrations of anti-caspase-8 (percentile 50-75) was significantly different from the control group (p < 0.0001). Anti-caspase-8 showed a strong association with positive anti-GAD65 (OR = 3.48, p < 0.035) and ketoacidosis (OR = 10.74, p < 0.0001) events, with glycemia and age at diagnosis as contributing variables. CONCLUSION: This is the first report in the literature of levels of anti-caspase-8 antibodies in T1D through ELISA. The high concentration in patients with T1D, and its strong correlation with anti-GAD65 auto-antibodies, suggests a potential role of anti-caspase-8 auto-antibodies as surrogate marker autoimmunity in T1D patients.


Assuntos
Anticorpos/sangue , Biomarcadores/sangue , Caspase 8/imunologia , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/imunologia , Adolescente , Criança , Pré-Escolar , Chile , Diabetes Mellitus Tipo 1/fisiopatologia , Ensaio de Imunoadsorção Enzimática/métodos , Ensaio de Imunoadsorção Enzimática/normas , Epitopos , Feminino , Glutamato Descarboxilase/imunologia , Humanos , Cetose , Masculino
13.
Rev Med Chil ; 138(5): 543-50, 2010 May.
Artigo em Espanhol | MEDLINE | ID: mdl-20668808

RESUMO

BACKGROUND: Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis. AIM: To analyze four gene polymorphisms of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D). PATIENTS AND METHODS: We analyzed 160 cases with T1D of recent diagnosis aged 9.5 +/- 3.3 years and 160 control children aged 10.7 +/- 3.1 years. Four genetic variants of PDCD-1 gene were studied (PD1.2; PD1.5; PD1.6 and PD1.9) by polymerase chain reaction and restriction enzymes. Autoantibodies GAD65 and anti-IA-2 were also measured in all studied children. The comparison of allelic and genotypic frequency and consistency with respect to Hardy-Weinberg equilibrium test were analyzed using Chi-square and Fisher exact test. RESULTS: No differences between cases and controls were observed for PDCD1.2; PDCD1.5 and PDCD1.9 polymorphisms. PDCD1.6 polymorphism (carriers of allele A) had a higher frequency in the control group (0.794 versus 0.644, p < 0.017). There was no particular association of these polymorphisms with anti- GAD65 and anti-IA-2 antibodies among patients with T1D. CONCLUSIONS: Only PDCD1.6 polymorphism showed differences between T1D cases and controls. Possibly, none of these genetic variants of PDCD1 has a relevant role as a marker for T1D in the Chilean population.


Assuntos
Antígenos CD/genética , Proteínas Reguladoras de Apoptose/genética , Doenças Autoimunes/genética , Diabetes Mellitus Tipo 1/genética , Polimorfismo Genético , Adolescente , Anticorpos/sangue , Criança , Chile , Diabetes Mellitus Tipo 1/imunologia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Receptor de Morte Celular Programada 1
14.
Rev Med Chil ; 132(4): 413-20, 2004 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-15382512

RESUMO

BACKGROUND: Type 1 diabetes is an organ specific autoimmune disease whose incidence is increasing worldwide. A functional imbalance in cytokine production resulting in dominance of T helper (Th1) over Th2-type response has been suggested to play a critical role in the pathogenesis of type 1 diabetes. AIM: To measure serum concentrations of interleukin (IL)-1beta, IL-2 and IL-4 in children with recently diagnosed type 1 diabetes and to evaluate the autoimmune response measuring glutamic acid decarboxylase (GAD65) and tyrosine phosphatase like (IA-2) autoantibodies. PATIENTS AND METHODS: 120 diabetic children and 118 age and gender matched control children, were recruited for this study. Circulating levels of IL-1beta IL-2 and IL-4 were measured by ELISA. GAD65 and IA-2 were measured by RIA. RESULTS: Circulating levels of IL-1beta were elevated in type 1 diabetic children as compared to the control group (9.3 +/- 7.3 and 4.9 +/- 3.8 pg/ml respectively, p=0.01). Serum concentration of IL-2 was also higher in diabetic patients (19.8 +/- 13.1 and 113 +/- 9.1 pg/ml respectively, p=0.01). No differences in serum IL-4 were observed between diabetics and control. Diabetic children with one or two positive autoantibodies (IA-2 and/or GAD65) had significantly higher levels of IL-1beta and IL-2 and lower levels of IL-4 than diabetic children without positive autoantibodies. High concentrations of IL-1beta were associated with an early onset of the disease. CONCLUSIONS: High levels of IL-1beta and IL-2 were found in diabetic children with recent diagnosis of the disease. Diabetics with positive antibodies against GAD65 and IA-2 had higher levels of IL-1beta and IL-2 and lower levels of IL-4 than their counterparts without positive antibodies.


Assuntos
Autoanticorpos/sangue , Diabetes Mellitus Tipo 1/imunologia , Interleucinas/sangue , Adolescente , Autoanticorpos/imunologia , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/genética , Feminino , Humanos , Lactente , Recém-Nascido , Interleucina-1/sangue , Interleucina-2/sangue , Interleucina-4/sangue , Interleucinas/imunologia , Masculino , Estatísticas não Paramétricas
15.
Rev Med Chil ; 131(8): 865-72, 2003 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-14558240

RESUMO

BACKGROUND: Environmental and genetic factors (viruses, toxins and diet) are involved in the aetiology of type 1 diabetes. Among the dietary factors, the role of breast feeding and exposure to cow's milk proteins deserve special attention. AIM: To determine the anti-BSA-IgG levels in type 1 diabetic children and to analyse the possible association with breast feeding duration, exposure to cow's milk and beta pancreatic auto-antibodies. PATIENTS AND METHODS: Blood samples were collected from 161 diabetic children and 144 controls to measure anti-BSA-IgG level, GAD65, IA-2 and ICA autoantibodies. All children answered a questionnaire about dietary habits during infancy. RESULTS: anti-BSA-IgG was positive (using a cut off point of 25.6 ng/ml) in 98% of diabetic children and 0% of the control population. The length of breast feeding or early exposure to cow's milk did not influence the concentration of anti-BSA-IgG. Positive BSA titers did not increase the beta pancreatic reactivity (ICA+, GAD+, IA2+). CONCLUSIONS: Our data confirm the high frequency of anti-BSA-IgG among diabetic children. However, a specific role in the immunological process of type 1 diabetes cannot be attributed to this protein.


Assuntos
Aleitamento Materno , Diabetes Mellitus Tipo 1/imunologia , Imunoglobulina G/isolamento & purificação , Leite , Soroalbumina Bovina/imunologia , Adolescente , Animais , Anticorpos Anti-Idiotípicos/sangue , Autoanticorpos/sangue , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Fatores de Tempo
16.
Pediatr Diabetes ; 4(4): 157-61, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14710775

RESUMO

OBJECTIVE: To compare the levels of bovine serum albumin (BSA) antibodies and their relationship with duration of breast feeding, age of exposure to cow's milk, and human leukocyte antigen (HLA-DQ) genotype in children with and without type 1 diabetes. METHODS: Serum samples from 143 (0.3-14.7 yr) newly diagnosed children with type 1 diabetes and 107 unrelated control children (0.8-13.5 yr) were evaluated for BSA antibodies. Duration of breast feeding and exposure to cow's milk were recorded on questionnaires. HLA-DQ typing was determined by polymerase chain reaction. RESULTS: One hundred percent of the diabetic children were positive for BSA antibodies compared to 1.9% for healthy controls (p < 0.001). Diabetic children also had higher levels of immunoglobulin G antibodies than unrelated controls (55.1 vs. 17.8 ng/mL, p < 0.0001). Duration of breast feeding (5.4 vs. 7.6 months, p < 0.02), but not age of exposure to cow's milk (8.3 vs. 9.2 months, p = 0.11), differed between cases and controls. There was no difference in antibody titer by duration of breast feeding or age of exposure to cow's milk in the cases or controls. CONCLUSION: Higher levels of antibodies to BSA were found in children recently diagnosed with type 1 diabetes compared to the controls, particularly those with high or moderate HLA-DQ genotypes. The BSA profile, however, does not seem to depend on duration of breast feeding or age of exposure to cow's milk in this population.


Assuntos
Anticorpos/sangue , Aleitamento Materno , Diabetes Mellitus Tipo 1/sangue , Leite/imunologia , Soroalbumina Bovina/imunologia , Adolescente , Animais , Estudos de Casos e Controles , Bovinos , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/imunologia , Feminino , Humanos , Lactente , Masculino , Valores de Referência , Fatores de Tempo
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