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1.
Crit Rev Food Sci Nutr ; 62(10): 2820-2835, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33325770

RESUMO

Beer is the most widely consumed alcoholic drink in the world, but it is not suitable for patients who suffer from celiac disease (CD) because its main ingresdients, barley or wheat, contain gluten. Approximately 1% of the world's population is affected by CD, and the development of gluten-free beer is imperative. Gluten-free beers produced using alternative materials, such as rice, sorghum, maize, millet, oats, and pseudocereals (e.g., buckwheat, quinoa and Amaranth), are studied in this review that examines the effects of specific substitutions on the different characteristics of the final beer to ensure the appropriateness of their use. The use of alternatives to malt may affect the quality of gluten-free beer and result in some negative consequences. Accordingly, the influential factors are discussed in terms of the total substitution of malt with other grains in the production of beer. Research results have provided some new alternative solutions for the production of gluten-free beer, such as the use of malted grains to improve hydrolytic enzyme activity, the application of nonconventional mashing procedures involving the decoction method and extrusion cooking techniques to increase the extract yield, the use of exogenous enzymes and nitrogen supplements to improve the sugar and amino acid spectra necessary for yeast fermentation, and the application of combinations of alternative grains to improve the flavor, body and foam stability of gluten-free beers.


Assuntos
Cerveja , Fagopyrum , Cerveja/análise , Fagopyrum/química , Fermentação , Glutens/análise , Plântula/química
2.
Int J Mol Sci ; 23(7)2022 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-35409015

RESUMO

Celiac disease (CD) is an autoimmune disease characterized by an altered immune response stimulated by gliadin peptides that are not digested and cause damage to the intestinal mucosa. The aim of this study was to investigate whether the postbiotic Lactobacillus paracasei (LP) could prevent the action of gliadin peptides on mTOR, autophagy, and the inflammatory response. Most of the experiments performed were conducted on intestinal epithelial cells Caco-2 treated with a peptic-tryptic digest of gliadin (PTG) and P31-43. Furthermore, we pretreated the Caco-2 with the postbiotic LP before treatment with the previously described stimuli. In both cases, we evaluated the levels of pmTOR, p70S6k, and p4EBP-1 for the mTOR pathway, pNFkß, and pERK for inflammation and LC 3 and p62 for autophagy. For autophagy, we also used immunofluorescence analysis. Using intestinal organoids derivate from celiac (CD) patients, we analyzed the effect of gliadin after postbiotic pretreatment with LP on inflammation marker NFkß. Through these experiments, we showed that gliadin peptides are able to induce the increase of the inflammatory response in a more complex model of intestinal epithelial cells. LP postbiotic was able to induce autophagy in Caco-2 cells and prevent gliadin effects. In conclusion, postbiotic pretreatment with LP could be considered for in vivo clinical trials.


Assuntos
Doença Celíaca , Lacticaseibacillus paracasei , Autofagia , Células CACO-2 , Gliadina/química , Humanos , Inflamação/metabolismo , Mucosa Intestinal/metabolismo , Lacticaseibacillus paracasei/metabolismo , Fragmentos de Peptídeos/metabolismo , Peptídeos/farmacologia , Serina-Treonina Quinases TOR/metabolismo
3.
Gynecol Endocrinol ; 36(4): 356-359, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31476950

RESUMO

The immune system seems to be involved in the pathogenesis of endometriosis. Peritoneal chronic inflammation is present and natural killer cells and macrophages abnormalities have been reported in women with the disease. Moreover, a higher production of serum autoantibodies has been found, which could be related to various factors; some still need to be clarified. The correlation between endometriosis and autoimmune diseases is still unclear with few and conflicting available data. The aim of this study was to evaluate the prevalence of autoimmune diseases, as conditions with a possible common pathogenetic factor, in women affected by endometriosis, in order to address future research on its pathogenesis. This retrospective case-control study includes one hundred and forty-eight women with endometriosis and 150 controls. All women were aged between 18 and 45. Informed consent was obtained from all participants of the study. Considered autoimmune diseases include systemic lupus erythematosus (SLE), celiac disease (CD), inflammatory bowel disease (IBD), and autoimmune thyroiditis. Statistical comparison of patients and control group was performed by means of chi-square test or Fisher's exact test as appropriate. Statistical comparison of parametric variable (age) among the groups was performed by t-test for unpaired data. Age was expressed as mean. A value of .05 or less was considered as significant. In the case group, five patients were affected by IBD, while the disease was not observed in the control group (p = .07). SLE was found in eight patients in the case group, while only one was found in the control group (p = .01). Fifteen women in the case group were affected by CD, while the disease was present only in one woman in the control group (p<.0001). A significant correlation was also found between endometriosis and autoimmune thyroiditis: 80 patients with endometriosis had thyroid diseases versus 14 patients in the control group (p<.0001). Our study reports an association between endometriosis and autoimmune disorders, showing a higher prevalence of autoimmune diseases in women affected by endometriosis. These results support a possible autoimmune pathogenesis of endometriosis.


Assuntos
Doenças Autoimunes/epidemiologia , Endometriose/epidemiologia , Doenças Peritoneais/epidemiologia , Adolescente , Adulto , Doenças Autoimunes/complicações , Estudos de Casos e Controles , Endometriose/complicações , Feminino , Doença de Hashimoto/complicações , Doença de Hashimoto/epidemiologia , Humanos , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/epidemiologia , Enteropatias/complicações , Enteropatias/epidemiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , Pessoa de Meia-Idade , Doenças Peritoneais/complicações , Prevalência , Estudos Retrospectivos , Tireoidite Autoimune/complicações , Tireoidite Autoimune/epidemiologia , Adulto Jovem
4.
J Proteome Res ; 18(9): 3394-3403, 2019 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-31333027

RESUMO

Rye, wheat, and barley contain gluten, proteins that trigger immune-mediated inflammation of the small intestine in people with celiac disease (CD). The only treatment for CD is a lifelong gluten-free diet. To be classified as gluten-free by the World Health Organization the gluten content must be below 20 mg/kg, but Australia has a more rigorous standard of no detectable gluten and not made from wheat, barley, rye, or oats. The purpose of this study was to devise an LC-MS/MS method to detect rye in food. An MS-based assay could overcome some of the limitations of immunoassays, wherein antibodies often show cross-reactivity and lack specificity due to the diversity of gluten proteins in commercial food and the homology between rye and wheat gluten isoforms. Comprehensive proteomic analysis of 20 rye cultivars originating from 12 countries enabled the identification of a panel of candidate rye-specific peptide markers. The peptide markers were assessed in 16 cereal and pseudocereal grains, and in 10 breakfast cereals and 7 snack foods. One of two spelt flours assessed was contaminated with rye at a level of 2%, and trace levels of rye were found in a breakfast cereal that should be gluten-free based on its labeled ingredients.


Assuntos
Cromatografia Líquida , Glutens/isolamento & purificação , Secale/genética , Espectrometria de Massas em Tandem , Austrália , Avena/genética , Doença Celíaca/dietoterapia , Doença Celíaca/prevenção & controle , Grão Comestível/genética , Farinha/análise , Análise de Alimentos , Glutens/genética , Hordeum/genética , Humanos , Peptídeos/genética , Peptídeos/isolamento & purificação , Proteômica , Triticum/genética
5.
Eur Ann Allergy Clin Immunol ; 47(2): 54-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25781195

RESUMO

OBJECTIVES: The aim of this study was to investigate if co-morbid conditions as hepatitis C virus infection and celiac disease may be associated to undifferentiated connective tissue disease. METHODS: We studied retrospectively and prospectively 52 patients with diagnosis of undifferentiated connective tissue disease, subdivided, according to Vaz criteria, in systemic lupus erythematosus, systemic sclerosis and Sjögren's syndrome-like subgroups. Serological markers of celiac disease as anti-gliadin, anti-endomysium and anti-tissue transglutaminase antibodies were investigated. An esophagogastroduodenoscopy with duodenal biopsy and histological examination was proposed to patients with positive celiac disease serology. In addition antibodies directed to hepatitis C virus and total IgA-antibodies were investigated. RESULTS: Six patients (11,5%) were positive for celiac disease serological tests although two of them were asymptomatic. Four patients underwent an esophagogastroduodenoscopy, showing total or subtotal villous atrophy at duodenal biopsies. Hepatitis C virus serology was negative in all patients and none had IgA deficiency. 83% of celiac patients showed a scleroderma-like phenotype. We observed a statistically higher incidence of autoimmune symptoms in patients with gluten sensitivity. Fatigue and myalgia regressed early after the beginning of gluten-free diet. CONCLUSIONS: In our cohort of patients the prevalence of celiac disease was higher than that reported in the general population. We believe that all patients with diagnosis of undifferentiated connective tissue disease, especially those with a systemic sclerosis-like presentation, should be investigated for celiac disease, even in absence of gastrointestinal symptoms. Gluten-free diet should be early recommended to all patients having undifferentiated connective tissue disease and gluten sensitivity.


Assuntos
Doença Celíaca/epidemiologia , Doenças do Tecido Conjuntivo/epidemiologia , Adulto , Idoso , Autoanticorpos/sangue , Biomarcadores/sangue , Biópsia , Doença Celíaca/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Doença Celíaca/imunologia , Comorbidade , Doenças do Tecido Conjuntivo/sangue , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/imunologia , Dieta Livre de Glúten , Duodeno/patologia , Endoscopia Gastrointestinal , Feminino , Hepatite C/epidemiologia , Humanos , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prevalência , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Cidade de Roma/epidemiologia , Escleroderma Sistêmico/epidemiologia , Testes Sorológicos , Síndrome de Sjogren/epidemiologia , Adulto Jovem
6.
Nutrients ; 16(8)2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38674808

RESUMO

BACKGROUND: Celiac disease is a gluten-related pathology, highly prevalent and heterogeneous in its clinical presentation, which leads to delays in diagnosis and misdiagnosis. The analysis of duodenal intraepithelial lymphocytes (IELs) by flow cytometry (lymphogram) is emerging as a discriminative tool in the diagnosis of various forms of celiac disease (CD). AIMS: The aim of this study was to validate IEL lymphogram performance in the largest adult series to our knowledge, in support of its use as a diagnostic tool and as a biomarker of the dynamic celiac process. METHODS: This was a retrospective study including 768 adult patients (217 with active CD, 195 on a gluten-free diet, 15 potential CD patients, and 411 non-celiac controls). The IEL subset cut-off values were established to calculate the diagnostic accuracy of the lymphogram. RESULTS: A complete celiac lymphogram profile (≥14% increase in T cell receptor [TCR]γδ IELs and simultaneous ≤4% decrease in surface-negative CD3 [sCD3-] IELs) was strongly associated with active and potential forms in over 80% of the confirmed patients with CD, whereas the remaining patients with CD had partial lymphogram profiles (≥14% increase in TCRγδ or ≤4% decrease in sCD3- IELs), with lower diagnostic certainty. None of these patients had a non-celiac lymphogram. Quantifying the TCRγδ versus sCD3- imbalance as a ratio (≥5) is a discriminative index to discard or suspect CD at diagnosis. CONCLUSIONS: We have validated the IEL lymphogram's diagnostic efficiency (79% sensitivity, 98% specificity), with an LR+ accuracy of 36.2. As expected, the increase in TCRγδ IELs is a reliable marker for celiac enteropathy, while changes in sCD3- IEL levels throughout the dynamic CD process are useful biomarkers of mucosal lesions.


Assuntos
Doença Celíaca , Citometria de Fluxo , Linfócitos Intraepiteliais , Humanos , Doença Celíaca/diagnóstico , Masculino , Adulto , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Linfócitos Intraepiteliais/imunologia , Citometria de Fluxo/métodos , Duodeno/patologia , Idoso , Dieta Livre de Glúten , Adulto Jovem , Biomarcadores , Adolescente , Mucosa Intestinal/patologia
7.
Cureus ; 16(9): e68603, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39371695

RESUMO

Background and aims Celiac disease (CD) is a chronic autoimmune disease that is characterized by inflammation of the intestinal mucosa, primarily triggered by gluten. So far, the effective management of CD only includes a gluten-free diet. For early diagnosis and management, adequate knowledge and a positive attitude towards CD are crucial. This study aims to investigate the CD-related knowledge and attitudes of the public in Riyadh, Saudi Arabia. Methods A cross-sectional online survey was conducted among individuals aged 16 and older. The data regarding demographic factors, knowledge, and attitudes about CD was collected via an online questionnaire. Statistical analysis was conducted using version 26 of SPSS (IBM Corp., Armonk, NY). Results In the current study, 669 individuals responded to the online survey. The majority of participants (82.1%) were familiar with CD. A total of 59.9% of respondents had adequate knowledge, 32.3% had outstanding knowledge, and 7.8% reported no knowledge of CD. The majority (69.5%) of respondents held negative attitudes concerning CD. The correlation between age and CD knowledge (P<0.05) and attitude (P<0.05) was statistically significant. Similarly, the correlation between occupation and CD knowledge (P<0.05) and attitude (P<0.05) was statistically significant. However, no significant association between gender and CD knowledge (p=0.720) or attitude (p=0.244) was found in males and females. Conclusion This study revealed that the majority of the residents of Riyadh, Saudi Arabia, had an adequate or excellent understanding of CD. However, the majority of respondents had a negative attitude towards CD management.

8.
Cureus ; 16(9): e68845, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39376805

RESUMO

Small bowel adenocarcinoma (SBA) is an uncommon gastrointestinal malignancy, with the duodenum being the most commonly affected site. This report describes a 33-year-old woman who initially presented with abdominal pain and vomiting. Initial imaging revealed abnormalities of the proximal jejunum. Endoscopic evaluation initially revealed celiac disease (CD); however, with disease progression, the patient developed bowel obstruction that led to surgical intervention with an open duodenal biopsy. The open duodenal biopsy confirmed the presence of duodenal adenocarcinoma (DA). This case demonstrates the diagnostic complexity of DA in the presence of concurrent CD due to overlapping presentations. Physicians must maintain a high suspicion of DA in the setting of progressive and difficult-to-treat CD, as early diagnosis and management of DA can significantly improve patient outcomes.

9.
Healthcare (Basel) ; 12(11)2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38891207

RESUMO

BACKGROUND: Globally, approximately 1.4% of people have celiac disease (CD), induced by gluten sensitivity. If left untreated, it causes small intestinal inflammation and villous atrophy, which can result in failure to thrive, anemia, osteoporosis, malabsorption, and even malignancy. The only treatment option available is a gluten-free diet (GFD). Few studies have looked at the role and perception of telehealth in relation to CD and selective nutrition both before and after the COVID-19 pandemic. AIM: Our goal was to screen and investigate the research conducted both before and after the COVID-19 pandemic concerning the utilization of telehealth applications and solutions in CD and other GFD-dependent circumstances. METHODS: We employed a narrative review approach to explore articles that were published in scholarly journals or organizations between the years 2000 and 2024. Only English-language publications were included. PubMed and Google Scholar searches were mainly conducted using the following keywords: telemedicine, telehealth, telecare, eHealth, m-health, COVID-19, SARS-CoV-2, celiac disease, and gluten-free diet (GFD). Manual searches of the references in the acquired literature were also carried out, along with the authors' own personal contributions of their knowledge and proficiency in this field. RESULTS: Only a few studies conducted prior to the COVID-19 outbreak examined the viewpoints and experiences of adult patients with CD with relation to in-person clinic visits, as well as other options such as telehealth. The majority of patients believed that phone consultations were appropriate and beneficial. Video conferencing and telemedicine became more popular during the COVID-19 pandemic, demonstrating the effectiveness of using these technologies for CD on a global basis. In recent years, urine assays for gluten identification have become accessible for use at home. These tests could be helpful for CD monitoring with telemedicine assistance. CONCLUSIONS: The extended knowledge gathered from the COVID-19 pandemic is expected to complement pre-COVID-19 data supporting the usefulness of telemedicine even after the emergent pandemic, encouraging its wider adoption in standard clinical practice. The monitoring and follow-up of CD patients and other GFD-dependent conditions can greatly benefit from telemedicine.

10.
Cureus ; 15(9): e44549, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37790051

RESUMO

Gluten sensitivity is defined as a chronic intolerance to gluten ingestion in genetically predisposed individuals. The etiology is thought to be immune-mediated and has a variable dermatologic presentation. Celiac disease (CD) is one of the most common forms of gluten intolerance and encompasses a wide range of extra-intestinal pathology, including cutaneous, endocrine, nervous, and hematologic systems. Psoriasis, another long-term inflammatory skin condition, has been linked to significant symptomatic improvement with a gluten-free diet (GFD). Palmoplantar pustulosis (PP), a variant of psoriasis, and aphthous stomatitis, which causes recurrent oral ulcers, have also exhibited beneficial results after the dietary elimination of gluten. In addition to this, dermatitis herpetiformis (DH), another immune-mediated skin disorder, is genetically similar to CD and has, therefore, shown tremendous improvement with a GFD. Another highly prevalent long-term skin condition called atopic dermatitis (AD), however, has revealed inconsistent results with gluten elimination and would require further research in the future to yield concrete results. Hereditary angioedema (HA) has shown an association with gluten intolerance in some patients who had symptomatic benefits with a GFD. Similarly, vitiligo and linear IgA bullous dermatosis have also shown some clinical evidence of reversal with a GFD. On the contrary, rosacea enhances the risk of developing CD. This narrative review emphasizes the potential impact of gluten intolerance on different cutaneous conditions and the potential therapeutic effect of a GFD on various symptomatic manifestations. There is a need for additional clinical and observational trials to further expand on the underlying pathophysiology and provide conclusive and comprehensive recommendations for possible dietary interventions.

11.
Cureus ; 15(8): e43839, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37736457

RESUMO

This study presents the case of a 23-year-old woman diagnosed with celiac disease (CD), a condition triggered by an immune response to gluten, leading to inflammation in the small intestine. The patient manifested typical gastrointestinal symptoms, including diarrhea, abdominal pain, and vomiting, complemented by extra-intestinal signs such as fatigue and skin rashes. Diagnosis was corroborated through the presence of tTG-IgA antibodies and distinct histological changes in the duodenum. A notable finding was the patient's iron deficiency anemia, directly linked to the duodenal damage caused by CD. Effective management, encompassing a strict gluten-free diet and iron supplementation, resulted in marked improvement in her condition. This case accentuates the significance of early CD detection, especially in patients exhibiting a combination of gastrointestinal and extra-intestinal symptoms. Emphasis is placed on the pivotal role of timely diagnosis, adherence to a gluten-free regimen, and sustained monitoring to ensure patient well-being and prevent complications.

12.
Nutrients ; 14(12)2022 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-35745182

RESUMO

Celiac disease (CD) is an autoimmune disease with the destruction of small intestinal villi, which occurs in genetically predisposed individuals. At the present moment, a gluten-free diet (GFD) is the only way to restore the functionality of gut mucosa. However, there is an open debate on the effects of long-term supplementation through a GFD, because some authors report an unbalance in microbial taxa composition. METHODS: For microbiome analysis, fecal specimens were collected from 46 CD individuals in GFD for at least 2 years and 30 specimens from the healthy controls (HC). Data were analyzed using an ensemble of software packages: QIIME2, Coda-lasso, Clr-lasso, Selbal, PICRUSt2, ALDEx2, dissimilarity-overlap analysis, and dysbiosis detection tests. RESULTS: The adherence to GFD restored the alpha biodiversity of the gut microbiota in celiac people but microbial composition at beta diversity resulted as different to HC. The microbial composition of the CD subjects was decreased in a number of taxa, namely Bifidobacterium longum and several belonging to Lachnospiraceae family, whereas Bacteroides genus was found to be more abundant. Predicted metabolic pathways among the CD bacterial communities revealed an important role in tetrapyrrole biosynthesis. CONCLUSIONS: CD patients in GFD had a non-dysbiotic microbial composition for the crude alpha diversity metrics. We found significant differences in beta diversity, in certain taxon, and pathways between subjects with inactive CD in GFD and controls. Collectively, our data may suggest the development of new GFD products by modulating the gut microbiota through diet, supplements of vitamins, and the addition of specific prebiotics.


Assuntos
Doença Celíaca , Microbioma Gastrointestinal , Microbiota , Dieta Livre de Glúten , Disbiose/microbiologia , Humanos
13.
Diagnostics (Basel) ; 11(7)2021 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-34359362

RESUMO

Celiac disease (CD) is diagnosed by a combination of specific serology and typical duodenal lesions. The histological confirmation of CD, mandatory in the majority of patients with suspected CD, is based on invasive and poorly tolerated procedures, such as upper gastrointestinal endoscopy. In this study we propose an alternative and non-invasive methodology able to confirm the diagnosis of CD based on the analysis of serum samples using the Raman spectroscopy technique. Three different bands centered at 1650, 1450 and 1003 cm-1 have been considered and the A1450/A1003 and A1650/A1003 ratios have been computed to discriminate between CD and non-CD subjects. The reliability of the methodology was validated by statistical analysis using receiver operating characteristic (ROC) curves. The Youden index was also determined to obtain optimal cut-off points. The obtained results highlighted that the proposed methodology was able to distinguish between CD and non-CD subjects with 98% accuracy. The optimal cut-off points revealed, for both the A1450/A1003 and A1650/A1003 ratios, high values of sensitivity and specificity (>95.0% and >92.0% respectively), confirming that Raman spectroscopy may be considered a valid alternative to duodenal biopsy and demonstrates spectral changes in the secondary structures of the protein network.

14.
J Transl Autoimmun ; 4: 100109, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34189450

RESUMO

Celiac disease is a life-long intestinal autoimmune disease, characterized by the gluten intolerance and chronic enteric inflammation. Traditionally presented by intestinal manifestations, however, a shift toward extra intestinal presentation is taking place. One of the affected organs is the nervous systems presented by neuropsychiatric manifestations, hence the mechanism and pathways are not clear. The presence of neuronal and alpha-enolases and their corresponding antibodies were noticed in the mucosa and serum of celiac disease patients, as well as in other various autoimmune diseases with psycho-neurological manifestations. The aims of the present review are to screen the literature on different isoforms of enolase, mainly alpha enolase, and their specific antibodies and to suggest their potential pathophysiological mechanisms relaying the enolases to intestinal or extraintestinal celiac disease manifestations. The shared aspects between the enolases and celiac disease and the cross-talks between alpha-enolase and tissue transglutaminase suggest new potential pathophysiological mechanisms that might drive celiac disease evolvement.

15.
Saudi J Biol Sci ; 27(6): 1494-1502, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32489286

RESUMO

Celiac disease (CD) is a gastrointestinal disorder whose genetic basis is not fully understood. Therefore, we studied a Saudi family with two CD affected siblings to discover the causal genetic defect. Through whole exome sequencing (WES), we identified that both siblings have inherited an extremely rare and deleterious CPED1 genetic variant (c.241 A > G; p.Thr81Ala) segregating as autosomal recessive mutation, suggesting its putative causal role in the CD. Saudi population specific minor allele frequency (MAF) analysis has confirmed its extremely rare prevalence in homozygous condition (MAF is 0.0004). The Sanger sequencing analysis confirmed the absence of this homozygous variant in 100 sporadic Saudi CD cases. Genotype-Tissue Expression (GTEx) data has revealed that CPED1 is abundantly expressed in gastrointestinal mucosa. By using a combination of systems biology approaches like protein 3D modeling, stability analysis and nucleotide sequence conservation analysis, we have further established that this variant is deleterious to the structural and functional aspects of CPED1 protein. To the best of our knowledge, this variant has not been previously reported in CD or any other gastrointestinal disease. The cell culture and animal model studies could provide further insight into the exact role of CPED1 p.Thr81Ala variant in the pathophysiology of CD. In conclusion, by using WES and systems biology analysis, present study for the first-time reports CPED1 as a potential causative gene for CD in a Saudi family with potential implications to both disease diagnosis and genetic counseling.

16.
Nutrients ; 11(6)2019 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-31146428

RESUMO

BACKGROUND: Non-Celiac Wheat Sensitivity (NCWS) is still a largely undefined condition, due to the lack of a diagnostic marker. Few data are available about the nutritional characteristics of NCWS patients at diagnosis. AIMS: To evaluate the proportion of NCWS patients who were underweight, normal weight, overweight, or obese at diagnosis, and to search for possible correlations between their Body Mass Index (BMI) and other NCWS-related disease characteristics. PATIENTS AND METHODS: The clinical charts of 145 NCWS patients (125 F, 20 M, mean age 37.1 ± 11.4 years), diagnosed between January 2012 and March 2018, were reviewed. As a comparison, 84 celiac disease (CD) patients (73 F, 11 M, mean age 39.8 ± 13.9 years) were evaluated. All NCWS diagnoses were based on a double-blind placebo-controlled wheat challenge (DBPCWC) method. RESULTS: BMI distribution was similar in the NCWS (6.2% underweight and 15.2% obese subjects) and CD patients (6% underweight and 7.1% obese subjects). Underweight NCWS subjects were significantly younger and had a shorter clinical history than the overweight or obese ones. Unlike the other NCWS patients, none of them had a DQ2 and/or DQ8 haplotype. Overweight and obese NCWS patients were more frequently suffering from associated autoimmune diseases than the other BMI categories (P = 0.05). Compared to the CD controls, NCWS patients showed a higher frequency of Irritable Bowel Syndrome (IBS)-like (P = 0.01) and extraintestinal symptoms (P = 0.03) and a longer clinical history (P = 0.04), whereas weight loss was more frequent in CD (P = 0.02). CONCLUSIONS: NCWS patients showed a BMI distribution similar to CD patients. However, NCWS was found to be a heterogenous condition that regards BMI, and clinical characteristics differed between the underweight and overweight/obese patients.


Assuntos
Índice de Massa Corporal , Sobrepeso/fisiopatologia , Magreza/fisiopatologia , Hipersensibilidade a Trigo/fisiopatologia , Adulto , Autoimunidade , Feminino , Antígenos HLA-DQ/genética , Antígenos HLA-DQ/imunologia , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Sobrepeso/diagnóstico , Sobrepeso/imunologia , Prognóstico , Estudos Retrospectivos , Magreza/diagnóstico , Magreza/imunologia , Hipersensibilidade a Trigo/diagnóstico , Hipersensibilidade a Trigo/imunologia
17.
Nutrients ; 10(10)2018 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-30282900

RESUMO

The gluten-free diet is effective in the majority of celiac disease (CD) patients, but it is burdensome and may influence quality of life (QoL). The aim of the study was to analyze the social and emotional fears and worries influencing the QoL of female CD patients following a gluten-free (GF) diet, as well as to indicate the sociodemographic interfering factors. The study was conducted on a group of 251 female CD patients, while emotional, social and worries subscales of the Celiac Disease Questionnaire (CDQ) were applied, as well as purchase-related emotions and behaviors were assessed. Respondents declaring worse economic status obtained significantly lower scores in the emotional, social and worries subscales of the CDQ than respondents declaring better economic status, while for other factors (CD duration, GFD adherence, BMI, place of residence and educational level) no significant association was stated in the multi-factor analysis. Moreover, respondents declaring worse economic status more often declared that a bad mood affected their purchase decisions than did respondents declaring better economic status. It was stated, that the economic status of CD patient could be one of the most important factors influencing their social and emotional fears and worries. It may be supposed that low economic status may lead some CD patients to choose to relieve stress by purchasing GF products instead of other products.


Assuntos
Ansiedade , Doença Celíaca/dietoterapia , Doença Celíaca/psicologia , Dieta Livre de Glúten/psicologia , Medo , Qualidade de Vida/psicologia , Adolescente , Adulto , Comportamento , Índice de Massa Corporal , Emoções , Feminino , Humanos , Pessoa de Meia-Idade , Cooperação do Paciente , Fatores Socioeconômicos , Inquéritos e Questionários
18.
Autoimmun Rev ; 15(8): 848-53, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27295421

RESUMO

BACKGROUND: Case reports and case series have indicated a possible association between celiac disease (CD) and systemic lupus erythematosus (SLE), but additional population-based studies are required. The true prevalence of CD in SLE patients is still unknown, but is indeed an important factor when considering the clinical implications, notably the necessity of screening strategies in SLE patients. Our objective was to investigate the association between CD and SLE using a community-based approach in a real-life population database. METHODS: Patients with SLE were compared with age- and sex-matched controls regarding the prevalence of CD in a case-control study. Chi-square and t-tests were used for univariate analysis and a logistic regression model was used for multivariate analysis. The study was performed utilizing the medical database of Clalit Health Services. RESULTS: The study included 5018 patients with SLE and 25,090 age- and sex-matched controls. The prevalence of CD was significantly higher in patients with SLE than in controls in univariate analysis (0.8% and 0.2%, respectively, p<0.001). Also, SLE was associated with CD (OR 3.92, 95% CI 2.55-6.03, p<0.001) in a multivariate logistic regression model. CONCLUSIONS: Patients with SLE had a greater prevalence of CD than matched controls in a large case-control study. A complex combination of genetic, immunological and novel environmental factors may explain this positive association. Physicians should keep in mind that CD can be a tricky diagnosis in SLE patients, yet a treatable condition, probably more common in this population than we used to think.


Assuntos
Doença Celíaca/epidemiologia , Doença Celíaca/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , Adulto , Estudos de Casos e Controles , Doença Celíaca/genética , Doença Celíaca/imunologia , Bases de Dados Factuais , Feminino , Humanos , Israel/epidemiologia , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Deficiência de Vitamina D/epidemiologia , Adulto Jovem
19.
Methods Mol Biol ; 1326: 67-77, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26498614

RESUMO

The IN Cell Analyzer 1000 possesses several distinguishing features that make it a valuable tool in research today. This fully automated high content screening (HCS) system introduced quantitative fluorescent microscopy with computerized image analysis for use in cell-based analysis. Previous studies have focused on live cell assays, where it has proven to be a powerful and robust method capable of providing reproducible, quantitative data. Using HCS as a tool to investigate antigen expression in duodenal biopsies, we developed a novel approach to tissue positioning and mapping. We adapted IN Cell Analyzer 1000's image acquisition and analysis software for the investigation of tissue transglutaminase (tTG) and smooth muscle alpha-actin (SM α-actin) staining in paraffin-embedded duodenal tissue sections from celiac patients and healthy controls. These innovations allowed a quantitative analysis of cellular structure and protein expression. The results from routine biopsy material indicated the intensity of protein expression was altered in celiac disease compared to normal biopsy material.


Assuntos
Doença Celíaca/patologia , Biópsia , Humanos , Microscopia de Fluorescência
20.
J Clin Diagn Res ; 8(12): GC01-3, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25653962

RESUMO

INTRODUCTION: Many studies have shown that the prevalence of celiac disease (CD) is increasing in the patients with irritable bowel syndrome (IBS), but the present evidences are controversy and all of the researches don't suggest evaluation of the patients with IBS for the CD. MATERIALS AND METHODS: In the cross-sectional study, 1000 patients that affected by IBS with the predominant feature of diarrhea who referred to the gastroenterology clinic were evaluated during 2009-2012 years. Blood samples were taken from the patients for ELISA of IgA tissue transglutaminase (TTG) Ab. Then biopsy was taken from the second part of duodenum of all of patients by endoscopy and the sample was referred to pathologist for histopathology evaluation in order to confirm diagnosis. RESULTS: About half of the patients with IBS were women (50.3%) and the mean age ± Standard deviation of the men and women was 29.59±11.41 and 28.42±11.73, respectively. The mean titer of TTG IgA Ab in the women and men affected by IBS was 5.25±17.77 and 7.22±25.4, respectively. Seventy six cases (7.6%) that affected by IBS had high serum level of Ab titer (TTG IgA.Ab≥10) that including 41 women and 35 men. In the patients with high serum level of Ab titer, 57 cases (75%) were affected by celiac disease (based on histopathology report). Therefore, the prevalence of CD was 5.7% among patients with IBS. CONCLUSION: In the current study the incidence of CD was evaluated 5.7 cases per each 100 people with IBS. It's suggested that all of the patients with diarrhea predominant IBS and high serum level of TTG IgA Ab must be examined for evaluation of CD.

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