Doença Celíaca: Desvelando Histórias / Celiac Disease: Unveiling Stories / Enfermedad Celíaca: Desvelando Historias

Objetivo: explorar o impacto da doença celíaca no bem-estar e no desenvolvimento de crianças, conforme percebido por suas mães, participantes do grupo "Criança Celíaca" no Facebook. Método: Estudo qualitativo, utilizando o método de história oral. A pesquisa centraliza a questão: Como a doença celíaca influencia a qualidade de vida e a saúde durante o crescimento e desenvolvimento infantil? Seis mães foram escolhidas com base em critérios de inclusão específicos e concordaram em participar do estudo. Os dados foram coletados através de entrevistas gravadas no Zoom e analisados por meio de transcrição, agrupamento e categorização dos depoimentos. Resultados:Os achados são divididos em sete categorias: experiências de crianças com doença celíaca; impacto na qualidade de vida, crescimento e desenvolvimento; interações em eventos sociais; experiências escolares; emoções diante da doença; e necessidades das famílias afetadas. Conclusão: O estudo revela a necessidade de maior envolvimento dos profissionais de enfermagem neste campo, enfatizando a importância do papel ativo dos pais na garantia da qualidade de vida de crianças celíacas

Objective: to explore the impact of celiac disease on the well-being and development of children as perceived by their mothers, members of the "CeliacChild" group on Facebook. Method:This qualitative study, employing oral history methodology. The research focuses on the question: How does celiac disease affect the quality of life and health during childhood growth and development? Six mothers were selected based on specific inclusion criteria and agreed to participate in the study. Data were collected through interviews recorded on Zoom and analyzed through transcription, grouping, and categorization of the testimonies. Results:The findings are divided into seven categories: experiences of children with celiac disease; impact on quality of life, growth, and development; interactions at social events; school experiences; emotions in the face of the disease; and the needs of affected families. Conclusion:The study highlights the need for greater involvement of nursing professionals in this field, emphasizing the importance of parents' active role in ensuring the quality of life of children with celiac disease

Objetivo: explorar el impacto de la enfermedad celíaca en el bienestar y desarrollo de los niños, según lo percibido por sus madres, integrantes del grupo "Niño Celíaco" en Facebook. Método:Este estudio cualitativo, utilizando el método de historia oral. La investigación se centra en la pregunta: ¿Cómo afecta la enfermedad celíaca a la calidad de vida y la salud durante el crecimiento y desarrollo infantil? Se seleccionaron seis madres basadas en criterios específicos de inclusión y acordaron participar en el estudio. Los datos se recopilaron a través de entrevistas grabadas en Zoom y se analizaron mediante transcripción, agrupación y categorización de los testimonios. Resultados:Los hallazgos se dividen en siete categorías: experiencias de niños con enfermedad celíaca; impacto en la calidad de vida, crecimiento y desarrollo; interacciones en eventos sociales; experiencias escolares; emociones frente a la enfermedad; y las necesidades de las familias afectadas. Conclusión:El estudio resalta la necesidad de una mayorimplicación de los profesionales de enfermería en este campo, enfatizando la importancia del rol activo de los padres en garantizar la calidad de vida de los niños celíacos.

Diagnosis of Celiac Disease after Starting Antitubercular Medication: A Case Report

We present the case of a young patient from Argentina living in a rural area without any relevant medical history. He consulted the emergency department after blunt chest trauma, and during trauma studies, images compatible with pulmonary tuberculosis were found, a diagnosis made incidentally. After starting treatment, he exhibited gastrointestinal symptoms such as diarrhea, abdominal pain, and weight loss, which were initially considered an adverse effect of treatment with rifampin/isoniazid/pyrazinamide/ethambutol (RHZE). Upon completing the first phase of treatment and suspending the medication, the symptoms improved, and the bacilloscopies were negative. Subsequently, the severity of the symptoms drew attention. Additional paraclinical tests were performed with malabsorptive diarrhea results, considering the patient's origin and the fact that his diet included products that he grew himself without prior exposure to gluten. Celiac disease is suspected, and antibodies and biopsy results compatible with this entity were obtained. When reviewing the association of symptom onset with the RHZE/pyridoxine treatment, we found these medications may have wheat-based excipients, which explains the worsening of symptoms, not due to the gastrointestinal adverse effects of the antibiotic but its excipients. Finally, the case was analyzed, tuberculosis was ruled out, and treatment was suspended, refocusing the therapeutic effort on recovering the patient's nutritional status. Subsequently, no other hospital admissions were recorded, and he remained respiratorily asymptomatic, with weight gain and nutritional recovery.

Se presenta el caso de un paciente joven, proveniente de Argentina y residente de un área rural, sin ningún antecedente médico a resaltar. Consultó al servicio de urgencias después de un trauma cerrado de tórax y durante los estudios de trauma se encontraron imágenes compatibles con tuberculosis pulmonar, diagnóstico realizado de manera incidental. Luego del inicio de tratamiento presentó síntomas gastrointestinales dados por diarrea, dolor abdominal y pérdida de peso, lo que inicialmente se consideró un efecto adverso al tratamiento con rifampicina/isoniazida/pirazinamida/etambutol (RHZE). Al completar la primera fase del tratamiento y suspender la medicación mejoraron los síntomas, además de que las baciloscopias fueron negativas. Posteriormente, llamó la atención la gravedad de los síntomas, por lo que se realizaron paraclínicos adicionales con resultados a favor de diarrea malabsortiva; teniendo en cuenta la procedencia del paciente y el hecho de que basaba su dieta en productos que él mismo cultivaba, sin haber exposición previa al gluten. Se sospecha enfermedad celíaca, y se obtuvieron anticuerpos y resultados en la biopsia compatibles con esta entidad. Al revisar la asociación de inicio de síntomas con el uso de tratamiento de RHZE/piridoxina, se observa que estos medicamentos pueden tener excipientes a base de trigo, lo que explica el empeoramiento de los síntomas, no por efectos adversos gastrointestinales del antibiótico sino por sus excipientes. Finalmente, se analizó el caso, se descartó tuberculosis y se suspendió el tratamiento, redirigiendo el esfuerzo terapéutico hacia la recuperación del estado nutricional del paciente. Posteriormente, no se registran otros ingresos hospitalarios, continúa asintomático respiratorio, con ganancia de peso y recuperación nutricional.

Severe Hypocalcemia as an Atypical Manifestation of Seronegative Celiac Disease in a Patient with Systemic Lupus Erythematosus: Case Report

Aim: To describe the clinical picture and diagnosis of an episode of severe hypocalcemia in a patient with systemic lupus erythematosus (SLE) in remission, with chronic diarrhea that led to the diagnosis of celiac disease (CD). Case presentation: 22-year-old patient, diagnosed with SLE at age 10, in remission. He consulted for a two-month history of paresthesias, muscle spasms, myalgias, and episodes of tetany in the previous week, associated with malabsorptive postprandial diarrhea. His laboratory tests showed severe hypocalcemia, vitamin D deficiency, severe hypomagnesemia, and mild hypokalemia. In the study for CD, serology reported normal anti-tissue transglutaminase IgA, antigliadin IgA, and IgG and low total IgA levels. Enteroscopy revealed erosive bulbo-duodenitis, with villous atrophy and increased intraepithelial lymphocytes in the pathology, which, together with the immunohistochemical study, allowed the diagnosis of CD, Marsh 3a type. Management was initiated with a gluten-free diet, with a positive clinical response. Conclusion: CD should be suspected in patients with SLE who present with diarrhea, abdominal pain, nausea/vomiting, recurrent oral aphthosis, and anemia. In rare seronegative CD cases, other causes of villous atrophy, mainly infectious, toxic, and immunological, must be ruled out. There is an association between CD and SLE, so diagnosis must be early and timely with the best testing scheme available to achieve effective treatment before complications occur.

Objetivo: Describir la presentación clínica y diagnóstico de un episodio de hipocalcemia grave en un paciente con lupus eritematoso sistémico (LES) en remisión, con diarrea crónica que condujo al diagnóstico de enfermedad celíaca (EC). Presentación del caso: Paciente de 22 años, con diagnóstico de LES a los 10 años, en remisión. Consultó por 2 meses de evolución de parestesias, espasmos musculares, mialgias y episodios de tetania en la semana previa, asociado a diarrea posprandial malabsortiva. Sus laboratorios mostraron hipocalcemia grave, déficit de vitamina D, hipomagnesemia grave e hipopotasemia leve. En el estudio para EC la serología reportó antitransglutaminasa tisular IgA, antigliadina IgA e IgG normales y niveles de IgA total bajos. La enteroscopia evidenció bulboduodenitis erosiva, con atrofia de las vellosidades y aumento de linfocitos intraepiteliales en la patología, que junto al estudio inmunohistoquímico permitieron concluir el diagnóstico de EC, tipo Marsh 3a. Se inició el manejo con una dieta libre de gluten, con una respuesta clínica positiva. Conclusión: La EC debe sospecharse en pacientes con LES que inicien con diarrea, dolor abdominal, náuseas/vómitos, aftosis oral recurrente y anemia. En los casos de EC seronegativa, los cuales son poco comunes, se deben descartar otras causas de atrofia de las vellosidades principalmente infecciosas, tóxicas e inmunitarias. Existe una asociación entre EC y LES, por lo cual el diagnóstico debe ser precoz y oportuno con el mejor esquema de pruebas disponible para lograr realizar un tratamiento efectivo antes de que se presenten las complicaciones.

Hepatitis B and Celiac Disease: A Cause for Concern?

Some theories suggest that the development of the immune response to clear hepatitis B triggers the intestinal tissue damage seen in celiac disease in genetically predisposed individuals. Although the role of hepatitis B virus infection in the development of autoimmune diseases has been widely discussed in the literature, it remains a controversial topic. Our objective is to review whether there is an association between hepatitis B and celiac disease and the particularities of vaccination against hepatitis B in celiac patients.

Algunas teorías sugieren que el desarrollo de la respuesta inmunitaria para la eliminación de la hepatitis B desencadena el daño del tejido intestinal observado en la enfermedad celíaca en individuos genéticamente predispuestos. Aunque el papel de la infección por el virus de la hepatitis B en el desarrollo de enfermedades autoinmunes se ha discutido ampliamente en la literatura, sigue siendo un tema controvertido. Nuestro objetivo es revisar si existe una asociación entre la hepatitis B y la enfermedad celíaca y las particularidades de la vacunación contra la hepatitis B en pacientes celíacos.

Prevalence of IgA anti-tissue transglutaminase antibody in a cohort of iranians patients with inflammatory bowel disease

Background and Aims: Some studies have reported the coexistence of inflammatory bowel disease (IBD) and celiac disease (CD). However, the prevalence of anti-tissue transglutaminase antibodies (IgA and IgG) and their screening value in patients with IBD is not yet clear. This study aimed to assess the prevalence of IgA anti-tTG and its potential correlation with disease status in patients with IBD. Materials and Methods: This cross-sectional study was conducted on 110 patients with confirmed IBD diagnosis at Ghaem Hospital, Mashhad, Iran. For each patient, all demographic and clinical data including age, extra intestinal manifestations, underlying diseases, types of diseases, and surgical history were collected. IgA anti-tissue transglutaminase titers were assessed by enzyme-linked immunosorbent assay. Results: None of the patients with IBD were positive for IgA anti-tTG antibodies, with a mean titer of 3.31 ± 1.3 AU/mL. Also, the mean titers were not associated with age, gender and various disease clinical features including the disease history, underlying disease, diagnosis type, extraintestinal manifestations, and surgery history. Conclusion: No significant prevalence pattern of IgA anti-tTG antibody was observed in patients with IBD. Accordingly, serological screening for CeD is not recommended in IBD patients, unless in a relevant clinical CeD suspicion. (AU)

Probióticos y prebióticos en pacientes con enfermedad celíaca y sensibilidad al gluten no celíaca / Probiotics and prebiotics for patients with celiac disease and non-celiac gluten sensitivity

La enfermedad celíaca y la sensibilidad al gluten no celíaca han tenido un aumento en su incidencia, esto las ha convertido en tema de interés en la búsqueda de enfoques terapéuticos innovadores que ayuden a mejorar los síntomas intestinales y extraintestinales. Esta revisión pretende determinar los efectos del uso de probióticos y prebióticos en la enfermedad celíaca y sensibilidad al gluten no celíaca. Se realizó una búsqueda en bases de datos HINARI, PubMed y Scopus en idioma español e inglés, se incluyeron artículos originales y de revisión con un máximo de cinco años desde su publicación. El uso de probióticos y prebióticos para la enfermedad celíaca ha mostrado beneficios restaurando la composición del microbiota intestinal, en especial con el uso de Lactobacilli y Bifidobacterium spp.; en la sensibilidad al gluten no celíaca, el uso se ve limitado al no conocer con exactitud su fisiopatología; no obstante, se propone como mejor pauta terapéutica una dieta libre de gluten. El uso de probióticos y prebióticos podría aliviar los síntomas gastrointestinales y mejorar la disbiosis en pacientes con enfermedad celíaca y sensibilidad al gluten no celíaca. Sin embargo, se necesitan más estudios que evidencien los beneficios de su uso como alternativa terapéutica

Celiac disease and non-celiac gluten sensitivity are entities that have shown an increase in incidence, making them a topic of interest to provide innovative therapeutic approaches and improve intestinal and extraintestinal symptoms. This review intends to determine the effects of the use of probiotics and prebiotics in celiac disease and non-celiac gluten sensitivity. A narrative review was undertaken by searching for original and review articles no older than five years since publication through data bases consulted: HINARI, PubMed and Scopus in Spanish and English. The use of probiotics and prebiotics in celiac disease has shown benefits by restoring the composition of the intestinal microbiota, especially with the use of Lactobacilli and Bifidobacterium spp.; in non-celiac gluten sensitivity, its use is limited as its pathophysiology is not exactly known, therefore, a gluten-free diet is currently considered to be the best therapeutic guideline. The use of probiotics and prebiotics could alleviate gastrointestinal symptoms and improve dysbiosis in patients with celiac disease and non-celiac gluten sensitivity. However, more studies are needed to demonstrate the benefits of its use as a therapeutic alternative

Elaboración de una base de referencia de composición corporal pediátrica para la provincia de Mendoza (Argentina)

R E S U M E N El objetivo fue elaborar una base de datos de referencia para composición corporal de sujetos pediátricos en la provincia de Mendoza (Argentina). Se obtuvieron datos de I4 variables de composición corporal (densidad y composición mineral ósea; masa magra y blanda; índice de masa corporal y magra, entre otros) de 198 sujetos (96 mujeres) de 4 a 19 años. Los sujetos se clasificaron en ocho grupos bienales; aquellos en etapa de transición puberal fueron clasificados según los estadios de Tanner: Las medidas se obtuvieron mediante densitometría dual de rayos-X en un equipo Lunar Prodigy DF+I6206. Para el análisis estadístico se usó Prism 5.4 en MS Win 7. Los valores de las variables analizadas aumentaron con la edad. Los valores en hombres siguen una tendencia lineal mientras en mujeres es sigmoidea, excepto el índice de masa corporal. Pacientes con igual edad, pero mayor estadio de Tanner, mostraron valores superiores de los componentes corporales. Las mujeres maduraron más tempranamente. Se concluyó que valores de las variables analizadas aumentaron con la edad y en menor medida, con las etapas de Tanner Los cambios son más precoces en mujeres y siguen diferentes cursos temporales en ambos sexos.

The objective was to develop a reference database for body composition of pediatric subjects in the province of Mendoza (Argentina). Data on I4 body composition variables (bone mineral density and composition; lean and soft mass; lean and body mass index, among others) were obtained from I98 subjects (96 women) aged 4 to 19 years. Subjects were classified into eight biennial groups; those in the pubertal transition stage were classified according to the Tanner stages. Measurements were obtained by dual X-ray densitometry on a Lunar Prodigy DF+I6206 instrument. For the statistical analysis, Prism 5.4 in MS Win 7 was used. The values of the variables analyzed increased with age. The values i n men follow a linear trend while in women it is sigmoid, except for the body mass index. Patients with the same age, but higher Tanner stage, showed higher values of body components. Women matured earlier It was concluded that the values of the variables analyzed increased with age and, to a lesser extent, with the Tanner stages. The changes are earlier and follow different time courses in women than in men.

O objetivo foi desenvolver um banco de dados de referência para composição corporal de indivíduos pediátricos na província de Mendoza (Argentina). Dados sobre I4 variáveis de composição corporal (densidade e composição mineral óssea; massa magra e massa mole; índice de massa magra e corporal, entre outras) foram obtidos de I98 indivíduos (96 mulheres) com idades entre 4 e I9 anos. Os sujeitos foram classificados em oito grupos bienais; aqueles no estágio de transição puberal foram classificados de acordo com os estágios de Tanner As medições foram obtidas por densitometria por dupla emissão de raios-X em um instrumento Lunar Prodigy DF+I6206. Para a análise estatística foi utilizado o Prism 5.4 no MS Win 7. Os valores das variáveis analisadas aumentaram com a idade. Os valores nos homens seguem uma tendência linear enquanto nas mulheres é sigmóide, com exceção do índice de massa corporal. Pacientes com a mesma idade, mas estágio de Tanner mais alto, apresentaram valores mais elevados de componentes corporais. As mulheres amadureceram mais cedo. Concluiu-se que os valores das variáveis analisadas aumentaram com a idade e, em menor grau, com os estágios de Tanner As mudanças são mais precoces e seguem cursos de tempo diferentes nas mulheres do que nos homens.

Hábitos alimentares e estado nutricional de pacientes com doença celíaca do sul do Brasil / Eating habits and nutritional status of patients with celiac disease in south brazil

ABSTRACT Background: Celiac disease is defined as a chronic autoimmune disease that affects the small intestine in genetically predisposed people, triggered by exposure to gluten. The only treatment for celiac disease to date is a lifelong gluten-free diet. Eating habits of celiacs play an important role in their nutritional status. Objective: To evaluate the eating habits and nutritional status of patients with celiac disease in Rio Grande do Sul. Methods: This is a cross-sectional study with patients diagnosed with celiac disease residing in Rio Grande do Sul (Brazil) over 18 years of age. An online questionnaire was applied with calls through social networks and also by the Associação dos Celíacos do Brasil - Rio Grande do Sul Section. Sociodemographic data, history of celiac disease, general medical history, reported weight and height and food consumption data (SISVAN food frequency questionnaire and general questions) were collected. Results: The sample consisted of 142 individuals with a mean age of 39.75±11.5 years, 94.4% were women and 93% were white. The patients showed care regarding a gluten-free diet, with the majority not ingesting gluten (82.2%) and being careful regarding cross-contamination by gluten in their homes (85.9%) and in restaurants (62, 4%). Most patients also had good eating habits, with frequent consumption of fruits, vegetables, meats, eggs and low frequency of processed foods and fats. Body weight before and after the diagnosis of celiac disease did not show significant changes (62.3±13.8 versus 63.6±11.7 kg; P=0.147); however, there was an improvement in the classification of nutritional status by body mass index (malnourished: 11.6% before versus 2.3% after; P=0.016). Conclusion: Most celiac disease patients in this study have good eating habits with a balanced gluten-free diet and improved nutritional status after diagnosis according to body mass index classification.

RESUMO Contexto: A doença celíaca é definida como uma doença crônica autoimune que afeta o intestino delgado em pessoas geneticamente predispostas, desencadeada pela exposição ao glúten. O único tratamento para doença celíaca até o momento é uma dieta isenta de glúten por toda a vida, levando em consideração que os hábitos alimentares de celíacos desempenham um papel importante em seu estado nutricional. Objetivo: Avaliar os hábitos alimentares e o estado nutricional de pacientes com doença celíaca do Rio Grande do Sul. Métodos: Trata-se de um estudo transversal com 142 pacientes com diagnóstico de doença celíaca residentes no Rio Grande do Sul (Brasil) e maiores de 18 anos. Para realização deste estudo, foi aplicado um questionário on-line com divulgação através de redes sociais e também pela Associação dos Celíacos do Brasil - Seção Rio Grande do Sul. Foram coletados dados sociodemográficos, histórico da doença celíaca, história clínica geral, peso e altura referidos e dados de consumo alimentar através de questionário de frequência alimentar do SISVAN e questões gerais. Resultados: A amostra foi constituída por 142 indivíduos com idade média de 39,75±11,5 anos, sendo 94,4% mulheres e 93% de etnia branca. Os participantes apresentaram cuidados em relação a dieta isenta de glúten, sendo que a maioria não ingere glúten (82,2%) e possuem cuidados em relação a contaminação cruzada por glúten em suas casas (85,9%) e em restaurantes (62,4%). A maioria da amostra também apresentou bons hábitos alimentares, com o consumo frequente de frutas, legumes, verduras, carnes, ovos e pouco frequente de industrializados e gorduras. O peso corporal antes e após o diagnóstico de doença celíaca não apresentou mudanças significativas (62,3±13,8 versus 63,6±11,7 kg; P=0,147); entretanto, houve melhora na classificação do estado nutricional pelo índice de massa corporal (11,6% versus 2,3% de desnutridos; P=0,016). Conclusão: A maioria dos pacientes com doença celíaca deste estudo apresentam bons hábitos alimentares com uma dieta isenta de glúten balanceada e com melhora do estado nutricional após o diagnóstico de acordo com a classificação do índice de massa corporal.

Seroprevalencia de enfermedad celiaca en pacientes con infertilidad. Un estudio de casos y controles / Celiac disease seroprevalence in patients with infertility. A case-control study

Resumen Antecedentes: Aunque los pacientes con enfermedad celiaca (EC) tienen en su mayoría manifestaciones digestivas, algunos pueden presentarlas de índole extraintestinal (atípicas), como anemia crónica, ataxia y trastornos de la fertilidad. Objetivo: Determinar la prevalencia de anticuerpos relacionados con EC en mujeres mexicanas con trastornos de la fertilidad. Material y métodos: Estudio de casos y controles de mujeres que acudieron a valoración por trastornos de la fertilidad en un centro especializado. Se cuantificó h-tTG IgA, gliadina IgA II y gliadina IgG II; los títulos > 30 UI fueron considerados como positivos. Resultados: Se incluyeron 171 casos y 171 controles; 137 pacientes (80.1 %) tuvieron infertilidad y 34 (19.9 %), esterilidad. Ocho pacientes (4.6 %, IC 95 % = 2.3-8.9) tuvieron al menos un marcador positivo para EC comparadas con una mujer del grupo control (0.5 %, IC 95 % = 0.01-3, p = 0.04, razón de momios = 8.3). Seis de las ocho pacientes presentaron infertilidad inexplicable. Conclusiones: Hasta 4.6 % de las mujeres con infertilidad presentó al menos un marcador positivo para EC. Al igual que en otras partes del mundo, podría recomendarse el escrutinio para EC en mujeres con infertilidad, en especial en quienes padecen infertilidad inexplicable.

Abstract Background: Although most patients with celiac disease (CD) have digestive manifestations, in some of them they may be of extraintestinal (atypical) nature, such as chronic anemia, ataxia, and fertility disorders. Objective: To determine the prevalence of CD-related antibodies in Mexican women with fertility disorders. Material and methods: Case-control study of women who attended evaluation for fertility disorders in a specialized center. h-tTG-IgA, gliadin IgA II and gliadin IgG II were quantified; titers > 30 IU were considered positive. Results: One-hundred and seventy-one cases and 171 controls were included; 137 patients (80.1%) had infertility, and 34 (19.9%), sterility. Eight patients (4.6%, 95% CI = 2.3-8.9) had at least one positive marker for CD in comparison with one woman in the control group (0.5%, 95% CI = 0.01-3, p = 0.04, odds ratio = 8.3). Six of the eight patients had unexplained infertility. Conclusions: Up to 4.6% of women with infertility had at least one positive marker for CD. As in other parts of the world, screening for CD could be recommended in women with infertility, especially in those with unexplained infertility.

Gastrointestinal tract involvement in patients with potential celiac disease beyond the small intestine: An early proof with IgA anti-tissue transglutaminase-2 antibody deposits

Background: IgA anti-tissue transglutaminase-2 antibody (anti-TG2Ab) deposits in intestinal and extraintestinal organs have been used to link the respective pathological changes in these organs with celiac disease (CeD). Aims: To know if parts of intestine other than the duodenum, such as esophagus, stomach, and colon, have any pathology related to potential CeD or have mucosal IgA anti-TG2 Ab deposits. Settings and Design: A prospective case–control study conducted from April 2018 to December 2019. Materials and Methods: Nine patients with potential CeD and 27 age- and gender-matched patients with irritable bowel syndrome were recruited as cases and controls, respectively. Mucosal biopsies were collected from esophagus, stomach, duodenum, and rectosigmoid regions, histological changes were evaluated, and IgA anti-TG2 Ab deposits were analyzed in these regions by two-color immunohistochemical staining. Statistics: Data were analyzed using statistical software Stata 14.0. Results: No distinct difference in mucosal lymphocytosis were identified between biopsies of patients with potential CeD and controls at the following sites: esophagus (11.1% vs 0%, P = 0.079), stomach (14.3% vs 7.7%, P = 0.590), and rectum (20% vs 0%, P = 0.067). Co-localized IgA anti-TG2Ab deposits were observed more in potential CeD than in controls at esophagus 22.2% (2/9) vs 0%, P = 0.012; stomach 66.7% (6/9) vs 11.5% (3/26), P < 0.001; and duodenum 66.7% (6/9) vs 0%, P < 0.001 but not at rectum 0% (0/4) vs 0% (0/25). Conclusion: Although histological changes are not distinct, a subset of subjects with potential CeD has pan-intestinal involvement other than in the duodenum.

Celiaquía: Aprovechar el poder diagnóstico de los anticuerpos

La celiaquía es un trastorno mediado por la respuesta inmune al gluten ingerido en individuos genéticamente susceptibles. La enfermedad celíaca afecta al 1 % de la población mundial, y su incidencia se ha incrementado sustancialmente en las últimas décadas. Sin embargo, aún la enfermedad celíaca es pobremente reconocida por la comunidad médica y por la población, tanto a nivel internacional, como nacional, muchos casos permanecen subdiagnosticados. Para mejorar el diagnóstico y manejo del paciente celíaco se recomienda el uso oportuno de la serología específica de la enfermedad celíaca. De los distintos anticuerpos asociados con la enfermedad celíaca, los anticuerpos anti-transglutaminasa tisular (anti-TGt IgA) representan la primera opción diagnóstica por su elevada sensibilidad y especificidad. La prueba de anti-TGt IgA no solo permite descartar de modo confiable la celiaquía, sino funciona como filtro para la selección de pacientes tributarios de biopsia intestinal para la confirmación diagnóstica. El desarrollo de la serología ha posibilitado la aplicación de nuevas estrategias diagnósticas que obvian la biopsia intestinal al menos en algunos grupos de pacientes.

Celiac disease is a disorder mediated by the immune response to ingested gluten in genetically susceptible individuals. Celiac disease affects 1% of the world population, and its incidence has increased substantially in recent decades. However, celiac disease is still poorly recognized by the medical community and by the population, both domestic and international, many cases remain underdiagnosed. Improving the diagnosis and management of the celiac patient, the timely use of specific serology for celiac disease is recommended. Different antibodies associated with celiac disease, however, anti-tissue transglutaminase antibodies (anti-TGt IgA) represent the first diagnostic option due to their high sensitivity and specificity. The anti-TGt IgA test not only constantly rules out celiac disease, but also functions as a filter for the selection of patients eligible for intestinal biopsy for diagnostic confirmation. The development of serology has enabled the use of new diagnostic strategies that avoid intestinal biopsy, at least in some groups of patients.

Clinical spectrum & changing presentation of celiac disease in Indian children

Background & objectives: Celiac disease (CD) is a genetic immune mediated disorder characterised by gluten intolerance. This single centre study, from north India was aimed to assess the clinical, serological and histological profile of CD in a large cohort of children and the changing trends in its presentation. Methods: A review of clinical details of CD children diagnosed between 2000 and 2019 and currently on follow up was performed. Information on demography, symptoms, associated conditions, serology, biopsy findings and gluten-free diet were analyzed. Results: The mean age (±standard deviation) of 891 children included in the study, at onset and at diagnosis was 4.0±2.7 and 6.2±3.1 yr, respectively. Growth faltering, abdominal pain, abdominal distension and diarrhoea were presenting symptoms in 70, 64.2, 61.2 and 58.2 per cent, respectively. A positive family history of CD was present in 14 per cent and autoimmune conditions in 12.3 per cent of children. Thyroid disorders were seen in 8.5 per cent of children and Type 1 diabetes mellitus (T1DM) in 5.7 per cent. The duration of breastfeeding had a weak positive correlation with age at onset and diagnosis of CD (P<0.001). Non-classical CD was significantly more common in children aged >10 yr and in those presenting after 2010 (P<0.01). T1DM and hypothyroidism occurred more frequently in non-compliant children. Interpretation & conclusions: This was the largest single centre study, pertaining to the presentation and follow up of CD in children. Infants and young children were more likely to present with classical symptoms of diarrhoea, abdominal distension and growth failure while older children presented with non-classical CD. There was a trend towards non-classical forms of CD in recent years.

Enfermedades autoinmunes asociadas a inmunodeficiencias primarias / Autoimmune diseases associated with primary immunodeficiencies

Introducción: Las enfermedades y manifestaciones autoinmunes ocupan el segundo lugar de las enfermedades por inmunodeficiencia primaria, después de las infecciones. Objetivo: Determinar el comportamiento de las enfermedades autoinmunes en los pacientes con inmunodeficiencias primarias. Métodos: Se realizó estudio de caso control en el servicio de Alergia e Inmunología de Bayamo, Granma entre los años 2013 y 2022. El grupo de estudio fue de 38 pacientes con diagnóstico de inmunodeficiencia primaria y el grupo control de 76 pacientes sin compromiso del sistema inmune. Se empleó el programa estadístico SPSS 25, las frecuencias absolutas y relativas, odds ratio y Chi cuadrado. Resultados: Las manifestaciones sugerentes de autoinmunidad en los pacientes con inmunodeficiencias primarias fue 39,47 % y en los controles 3,95 %, OR = 15,869 y p= 0,000. Las más frecuentes fueron: dolor monoarticular en 6 pacientes (33,33 %); poliartralgia, dermatitis y alopecia en 3 casos (16,67 %) cada uno; dolor en la columna vertebral y nódulos subcutáneos, un paciente (5,56 %) cada uno. Las enfermedades autoinmunes asociadas a inmunodeficiencias primarias fueron: enfermedad celiaca (30,71 %), vitíligo (23,07 %), fibromialgia (15,38 %), eritema nodoso, la gastritis eosinofílica, anemia perniciosa y vasculitis con 7,69 % cada uno. Conclusiones: Las manifestaciones y enfermedades autoinmunes prevalecieron en pacientes con inmunodeficiencias primarias; en ambos casos fueron más frecuentes en los pacientes mayores de 18 años de edad. Las inmunodeficiencias más frecuentemente asociadas a los trastornos autoinmunes fueron las deficiencias predominantemente de anticuerpos y los defectos desregulatorios.

Introduction: Autoimmune diseases are in second place, after infections to suspect primary immunodeficiency diseases. Objective: To determine the behavior of autoimmune diseases in patients with primary immunodeficiencies. Methods: A case control study was carried out in the allergy and immunology service of Bayamo, Granma between 2013 and 2022. The universe was studied as a whole, the study group with 38 patients diagnosed with primary immunodeficiency and the control group with 76 patients without immune system compromise. The SPSS 25 statistical program, absolute and relative frequencies, odds ratio and chi-square were used. Results: The manifestations suggestive of autoimmunity in patients with PID was 39.47% and in controls 3.95%, OR = 15.869 and p = 0.000 and the most frequent were: monoarticular pain in 6 patients (33.33%), polyarthralgia, dermatitis and alopecia with 3 cases (16.67%) each one, pain in dorsal spine and subcutaneous nodule, one patient (5.56%) each one. Immune diseases associated with PID were: celiac disease (30.71%), vitiligo (23.07%), fibromyalgia (15.38%), erythema nodosum, eosinophilic gastritis, pernicious anemia and vasculitis with 7.69% each. Conclusions: Autoimmune manifestations and diseases prevailed in patients with PID, in both cases were more frequent in patients older than 18 years. The immunodeficiencies most frequently associated with autoimmune disorders were those of antibodies and those with some dysregulation component.

Relationship between villous atrophy and Wnt pathway gene expressions in pediatric celiac patients

SUMMARY OBJECTIVE: Celiac disease is an autoimmune disease characterized by an abnormal immune response occurring in the small intestine linked to consumption of food containing gluten in individuals with a genetic predisposition. Dysregulation of Wnt signal transduction plays a role in the pathogenesis of many diseases including autoimmune diseases like celiac disease. In this study, the correlation of Wnt pathway gene expressions with each other and the correlation with clinical data were researched in pediatric celiac disease cases grouped according to the Marsh classification. METHODS: Gene expression levels of FZD8, DVL2, LRP5, RHOA, CCND2, CXADR, and NFATC1, which are involved in the Wnt pathway, were determined using quantitative real-time polymerase chain reaction in 40 celiac disease and 30 healthy individuals. RESULTS: All cases with the short height symptom were observed to be in Marsh 3b/3c groups (p=0.03). The gene expressions of DVL2, CCND2, and NFATC1 were high in the Marsh 3b group, and these genes showed positive correlation with each other (p=0.002). LRP5 and CXADR gene expressions were lower in the Marsh 3b group compared to other Marsh groups, and these genes showed a positive correlation with each other (p=0.003). CCND2 gene expression was associated with Marsh 3b group, diarrhea, and vomiting symptoms. DVL2 gene expression was correlated with Marsh 2 group and constipation symptom (p<0.05). CONCLUSION: Wnt signaling in the early stages of the disease of Marsh 1-2 involves high expression of LRP5 and CXADR genes, while expression of these two genes reduces, and DVL2, CCND2, and NFATC1 gene expressions clearly increase with a transduction variation observed from Marsh 3a stage when villous atrophy begins to form. It appears that the Wnt pathway may contribute to disease progression through expression changes.

Association between anti-tissue transglutaminase antibody titers and duodenal histopathology among adults with celiac disease / 中华内科杂志

To evaluate the association between serum anti-tissue transglutaminase antibody (anti-tTG) titers and the severity of histological damage to the duodenal mucosa and to predict a possible anti-tTG cutoff value for diagnosing celiac disease (CD) and villous atrophy in the domestic population. Clinical and pathological data from 76 adult CD patients with positive anti-tTG titers and duodenal biopsy results who were treated at the People′s Hospital of Xinjiang Uygur Autonomous Region from July 2017 to January 2022 were retrospectively analyzed. The correlation between anti-tTG titers and the severity of duodenal mucosal damage was statistically assessed to predict the optimal anti-tTG titer cut-off value for diagnosing CD and villous atrophy. Of the 76 patients, 10 had underlying CD, and of the 66 patients with duodenal histopathology, four were Marsh Ⅰ, six were Marsh Ⅱ, and 56 were Marsh Ⅲa-c grade. In adults with CD, anti-tTG titers were shown to be associated with the severity of histological damage to the duodenal mucosa. When the anti-tTG level was ≥5 times the upper limit of normal (ULN), the sensitivity and specificity for diagnosing CD were 83.9% and 92.9%, respectively. When the anti-tTG titer was ≥8 times the ULN, the sensitivity and specificity for diagnosing villous atrophy were 67.9% and 90.0%, respectively. Anti-tTG levels had a strong predictive value for diagnosing CD in adults when titers exceeded 10 times the ULN. Thus, the anti-tTG cut-off value can be combined with clinical judgment to diagnose CD, limiting the use of invasive endoscopy.

Clinical and endoscopic characteristics of adult celiac disease / 中华内科杂志

Objective:The study aimed to analyze the clinical and endoscopic characteristics of adult celiac disease (CD) to provide a scientific basis for more effective CD diagnosis and treatment.Methods:In this cross-sectional study, the clinical and endoscopic data of 96 adult CD patients treated in the Department of Gastroenterology of the People′s Hospital of Xinjiang Uygur Autonomous Region from March 2016 to December 2021 were retrospectively collected and analyzed.Results:A total of 96 CD patients were diagnosed, including 33 men and 63 women. The average age was 47±14 years (range, 18-81 years). The disease occurred mainly in the age group of 31-60 years. The median course of the disease was 2.0 (0.2-40.0) years. There were 41 (42.7%) classical and 55 (57.3%) non-classical CD patients. All patients with classical CD showed chronic diarrhea, often accompanied by abdominal pain (46.3%, 19/41), abdominal distension (17.1%, 7/41), anemia (65.9%, 27/41), and chronic fatigue (48.8%, 20/41). The main manifestations of non-classical CD were chronic abdominal pain (58.2%, 32/55), abdominal distension (32.7%, 18/55), anemia (40.0%, 22/55), and osteopenia/osteoporosis (38.2%, 21/55). Compared with non-classical CD, anemia developed more frequently in classical CD, and the difference was statistically significant ( P = 0.012). The incidence of complications in CD patients was 36.5% (35/96), and the main complications were thyroid disease (19.8%, 19/96), connective tissue disease (6.2%, 6/96), and kidney disease (6.2%, 6/96). There was no significant difference between classical and non-classical CD ( P>0.05). The frequency of endoscopic manifestations in CD patients was 84.4% (81/96). Duodenal bulb endoscopy showed nodular changes (72.9%, 70/96), grooved changes (10.4%, 10/96), and focal villous atrophy (9.4%, 9/96). The main manifestations of descending endoscopy were the decrease, flattening, or disappearance of duodenal folds (43.8%, 42/96), scallop-like changes (38.5%, 37/96), and nodular changes (34.4%, 33/96). Conclusions:Adult CD patients are mostly female. CD occurred mainly in the age group of 31-60 years. The clinical manifestations were mainly those of non-classical CD. Some patients often had other autoimmune diseases. Patients with characteristic endoscopic manifestations should be warned about the possibility of developing CD. Clinicians should strengthen the understanding of CD and reduce the related rates of missed diagnosis.

Anticuerpos antitransglutaminasa tisular en pacientes con síntomas gastrointestinales

Introducción: La enfermedad celiaca es una enteropatía mediada por la respuesta inmune, que ha sido crecientemente reconocida como una enfermedad común, que afecta tanto a la población infantil, como a la adulta. La serología es un componente clave de la detección y diagnóstico de la celiaquía. Objetivo: Evaluar la utilidad diagnóstica de los anticuerpos antitransglutaminasa tisular en individuos con síntomas gastrointestinales crónicos. Métodos: En un estudio de corte se determinaron los anticuerpos anti-transglutaminasa tisular IgA/G en 87 pacientes adultos y pediátricos con indicación médica de anticuerpos de celiaquía. Los anti- transglutaminasa tisular IgA/G se realizaron por el ensayo inmunoadsorbente ligado a enzima y por el ensayo multiplex de inmunoblot. Se aplicó la prueba U de Mann-Whitney y se calculó el coeficiente de concordancia kappa. Resultados: La seroprevalencia de los anti-transglutaminasa tisular IgG/IgA resultó de 8,05 % (7/87) por el ensayo inmunoenzimático. Los resultados cualitativos del ensayo inmunoenzimático y del inmunoblot para los anti- transglutaminasa tisular fueron concordantes con un coeficiente kappa de 0,407 (p=0,004). La distribución de la concentración de los anticuerpos anti-TGt IgA/G obtenidos por el ensayo inmunoenzimático respecto a los resultados negativos y positivos del inmunoblot no fue significativa (p=0,08). Los pacientes con presencia de anti-transglutaminasa tisular IgA/G por el ensayo inmunoenzimático obtuvieron el diagnóstico definitivo de enfermedad celiaca confirmado por biopsia duodenal. Conclusiones: Se confirmó la utilidad de la detección de los anticuerpos anti-transglutaminasa tisular IgA/G por el ensayo inmunoenzimático como primer paso diagnóstico de la enfermedad celíaca en pacientes con síntomas gastrointestinales.

Introduction: Celiac disease is an immune-mediated enteropathy that has been increasingly recognized as a common disease, affecting both the pediatric and adult population. Serology is a key component of the detection and diagnosis of celiac disease. Objective: To evaluate the diagnostic usefulness of anti-tissue transglutaminase antibodies in individuals with chronic gastrointestinal symptoms. Methods: In a cutoff study, anti-tissue transglutaminase IgA/G antibodies were determined in 87 adult and pediatric patients with medical indication for celiac disease antibodies. Anti-tissue transglutaminase IgA/G was performed by enzyme-linked immunoadsorbent assay and multiplex immunoblot assay. Mann-Whitney U test was applied and kappa correspondence coefficient was calculated. Results: The seroprevalence of anti-tissue transglutaminase IgG/IgA was 8.05 % (7/87) by enzyme-linked immunosorbent assay. The qualitative results of the enzyme-linked immunosorbent assay and immunoblot for anti-tissue transglutaminase were consistent with a kappa coefficient of 0.407 (p=0.004). The distribution of the concentration of anti-TGt IgA/G antibodies obtained by enzyme-linked immunosorbent assay with respect to negative and positive immunoblot results was not significant (p=0.08). Patients with presence of anti-tissue transglutaminase IgA/G by enzyme-linked immunosorbent assay obtained the definitive diagnosis of celiac disease confirmed by duodenal biopsy. Conclusions: The usefulness of detection of anti-tissue transglutaminase IgA/G antibodies by enzyme-linked immunosorbent assay as a first diagnostic step of celiac disease in patients with gastrointestinal symptoms was confirmed.

Diabetes mellitus tipo 1 y enfermedad celíaca en niños y adolescentes / Type 1 diabetes mellitus and celiac disease in children and adolescents

Introducción: La asociación entre enfermedad celíaca y diabetes mellitus tipo 1 se ha publicado con mayor frecuencia que la enfermedad celíaca aislada, cuya historia natural puede variar considerablemente, con evidencia de síntomas gastrointestinales en la minoría de los pacientes. Objetivo: Caracterizar a pacientes con diabetes mellitus tipo 1 y enfermedad celíaca. Método: Estudio observacional, descriptivo y transversal en 63 niños atendidos en el Hospital Pediátrico Docente Centro Habana entre los años 2016-2017 con diagnóstico de diabetes mellitus tipo 1. Las variables estudiadas se expresaron en valores absolutos y relativa, medida de tendencia central y de dispersión. Resultados: El sexo masculino representó 58,73 por ciento de los pacientes, la mayoría entre 10 y 14 años de edad. El anticuerpo antitransglutaminasa fue positivo en menos de 10 por ciento de los niños, generalmente sin síntomas, signos o hallazgos relacionados con la enfermedad celíaca. La frecuencia de ambas enfermedades en los pacientes estudiados fue de 3,17 por ciento. Conclusiones: La diabetes mellitus tipo 1 predomina en el sexo masculino a diferencia de la enfermedad celíaca que se diagnostica en pacientes femeninas. Los resultados de anticuerpos antitransglutaminasa son negativos en la mayoría de los pacientes mientras que los positivos tienen más de un año de evolución de la diabetes, se encuentran eutróficos o sobrepeso, asintomáticos y con valores ligeramente superiores de hemoglobina glucosilada(AU)

Introduction: The association between celiac disease and type 1 diabetes mellitus has been published more frequently than isolated celiac disease, whose natural history can vary considerably, with evidence of gastrointestinal symptoms in the minority of patients. Objective: To characterize patients with type 1 diabetes mellitus and celiac disease. Method: Observational, descriptive and cross-sectional study in 63 children treated at Centro Habana Pediatric Teaching Hospital between the years 2016-2017 with a diagnosis of type 1 diabetes mellitus. The variables studied were expressed in absolute and relative values, a measure of central tendency and dispersion. Results: Males accounted for 58.73 percent of the patients, most of them between 10 and 14 years old. The anti-transglutaminase antibody was positive in less than 10 percent of the children, usually without symptoms, signs, or findings related to celiac disease. The frequency of both diseases in the patients studied was 3.17 percent. Conclusions: Type 1 diabetes mellitus predominates in males unlike celiac disease which is diagnosed in female patients. The results of anti-transglutaminase antibodies are negative in most patients while the positive ones have more than a year of evolution of diabetes, are eutrophic or overweight, asymptomatic and with slightly higher values of glycosylated hemoglobin(AU)

Indian Academy of Pediatrics Consensus Guidelines for Probiotic Use in Childhood Diarrhea

Justification: Several probiotic species and strains, single or combined, have been evaluated in childhood diarrheal disorders, and recommendations have ever been changing as newer trials are published. Therefore, there is a need to develop a guideline for Indian children describing the current role of probiotics in clinical practice. Objectives: To develop a guideline for the use of probiotics in children with diarrhea. Process: A national consultative group (NCG) was constituted by the Indian Academy of Pediatrics (IAP), consisting of subject experts. Sub-topics were allotted to various experts as paired groups for detailed review. Members reviewed the international and Indian literature for existing guidelines, systematic reviews, meta-analyses and trials. Thereafter, two virtual structured meetings of the group were held on 2nd and 22nd August, 2020. The management guidelines were formulated by the group and circulated to the participants for comments. The final guidelines were approved by all experts, and adopted by the IAP executive board. Recommendations: The NCG suggests Lactobacillus GG as a conditional recommendation with low-to-moderate level evidence or Saccharomyces boulardii as a conditional recom-mendation with very low-to-low level evidence as adjuvant therapy in acute diarrhea. The NCG also recommends the use of combination probiotics in neonatal necrotizing enterocolitis (NEC), as these reduce the risk of NEC stage II and above, late-onset sepsis, mortality and also time to achieve full feeds. The NCG does not recommend the use of any kind of probiotics in the therapy of acute dysentery, persistent diarrhea, Clostridium difficile diarrhea and chronic diarrheal conditions such as celiac disease, diarrheapredominant irritable bowel syndrome and inflammatory bowel disease in children. Risk of antibiotic-associated diarrhea (AAD) is high with some antibiotics and most of these cases present as mild diarrhea. The NCG recommends probiotics only in special situations of AAD. L. rhamnoses GG or S. boulardii may be used for the prevention of AAD. VSL#3, a combination probiotic, may be used as an adjuvant in active pouchitis, and for prevention of recurrences and maintenance of remission in pouchitis.

Hipotireoidismo e doença celíaca: correlações e implicações terapêuticas / Hypothyroidism and celiac disease: correlations and therapeutic implications

O hipotireoidismo é definido como uma hipofunção da tireoide, tendo como principal causa, atualmente, as doenças autoimunes da glândula, caracterizadas por uma resposta imune local e redução da produção dos hormônios tireoidianos. A doença celíaca (DC), por sua vez, é definida como uma enteropatia autoimune permanente desencadeada pelo glúten, na qual há produção de diversos autoanticorpos. Uma parcela significativa de pacientes com hipotireoidismo requer doses maiores de T4 para alcançar os níveis ideais de TSH, incluindo os pacientes celíacos. Ademais, dentre as causas que diversificam a apresentação clínica da DC destaca-se o hipotireoidismo. Com o objetivo de estabelecer associações entre ambas as doenças foi realizada uma revisão embasada nos bancos de dados MEDLINE e SciELO. Os resultados mostram que as doenças autoimunes comumente se associam e representam fatores de risco entre si. Porém, o rastreamento indiscriminado dessas ainda é inviável e pouco benéfico. Por isso, saber quando suspeitar clinicamente e como investigar o hipotireoidismo e/ou a DC é de extrema importância. [au]

Hypothyroidism represents a thyroid hypofunction, main caused by autoimmune diseases of the gland, characterized by a local thyroid immune response that reduces the production of thyroid hormones. Celiac disease (CD), on the other hand, is a permanent autoimmune enteropathy, triggered by gluten, causing the production of several autoantibodies. A significant percentage of individuals with hypothyroidism requires higher doses of T4 to achieve optimal TSH levels, among which are celiac patients. Also, among different causes that diversify the clinical presentation of CD, one of the most common is hypothyroidism. Thus, with focus on establishing associations between both diseases, a review based on MEDLINE and SciELO was developed. Results show that autoimmune diseases commonly are associated and represent risk factors for each other. However, the indiscriminate screening of these diseases is still impracticable and has little benefit. Therefore, knowing when to suspect clinically and how to investigate hypothyroidism and/or CD is extremely important. [au]