scholarly journals Intestinal anti-tissue transglutaminase IgA deposits as a complementary method for the diagnostic evaluation of celiac disease in patients with low-grade histological lesions

2021 ◽  
Author(s):  
María Roca ◽  
Ester Donat ◽  
Etna Masip ◽  
Verónica Ballester ◽  
Isabel Gómez ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Pediatric Population ◽  
Histological Study ◽  
Final Diagnosis ◽  
Low Grade ◽  
Positive Serology ◽  
Histological Lesion ◽  
Complementary Method

Summary Evaluating the usefulness of intestinal anti-transglutaminase IgA (anti-TG2 IgA) deposits detection as a complementary or decision-supporting tool in the diagnosis of celiac disease (CD) in patients with low degree of enteropathy. Small intestinal biopsies (SIB) were performed from 2008 to 2017 in patients on suspicion of CD (positive CD serology and/or symptoms) referred to our Pediatric Gastroenterology Unit. We determined anti-TG2 IgA deposits by using double immunofluorescence in all the patients in whom Marsh 0 or Marsh1 was detected in the conventional histological study and in a random selection of patients with clearly positive serology and histological Marsh 2-3 lesion. 75 pediatric patients were split into 3 groups according to the final diagnosis: 1) 13 children with a Marsh 0 or 1, negative CD serology and final non-CD diagnosis;none presented intestinal anti-TG2 IgA deposits; 2) 15 potential CD cases (Marsh 0 or 1 and CD-associated antibodies), detecting anti-TG2 IgA deposits in 12; on follow-up, another biopsy performed in 11/15 showed villi atrophy in 7 and a Marsh 2 lesion in two of them, patients being finally diagnosed as CD cases; and 3) 47 children with Marsh 2-3 histological lesion and final CD diagnosis; all of them had intestinal anti-TG2 IgA deposits. Anti-TG2 deposits are a useful complementary tool for CD diagnosis in pediatric population with digestive pathologies suggestive of CD. It is especially helpful in those with low grade lesion, in which anti-TG2 deposits are predictive of the development of more severe lesions on follow-up.

scholarly journals Efficacy Study of Anti-Endomysium Antibodies for Celiac Disease Diagnosis: A Retrospective Study in a Spanish Pediatric Population

2019 ◽  
Vol 8 (12) ◽  
pp. 2179 ◽  
Author(s):  
María Roca ◽  
Ester Donat ◽  
Natalia Marco-Maestud ◽  
Etna Masip ◽  
David Hervás-Marín ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Retrospective Study ◽  
Villous Atrophy ◽  
Tissue Transglutaminase ◽  
Pediatric Population ◽  
Final Diagnosis ◽  
Disease Diagnosis ◽  
Histological Lesion ◽  
Asymptomatic Children ◽  
Endomysium Antibodies

The aim of this study was to assess the efficacy of anti-endomysium antibodies (EMA) as a serological marker for celiac disease (CD) diagnosis in a pediatric population. A retrospective study of pediatric patients who underwent a CD serological markers study: EMA and anti-tissue transglutaminase antibodies (anti-TG2). Clinical symptomatology, degree of histological lesion, human leukocyte antigen (HLA) haplotype compatible with CD (HLA DQ2 and/or DQ8), and final diagnosis were taken into account. We included 445 patients who were classified in two groups according to the final diagnosis. Group 1: 232 children with CD, 91.4% of whom exhibited small intestinal villous atrophy, 228 being EMA-positive and four EMA-negative. Group 2: 213 children with a non-CD diagnosis, 212 EMA negative and one EMA positive. Both antibodies, EMA and anti-TG2, reached similar sensitivities, 98% and 99% respectively, while EMA had a higher specificity (99%) than anti-TG2 (93%). By using both markers combined, compared to using anti-TG2 alone, 5.7% of patients are better diagnosed. However, when we compare the efficacy of EMA and anti-TG2 in asymptomatic and symptomatic patients, the sensitivity of EMA is 98% irrespective of symptoms, thus higher than for anti-TG2 ≥10 × upper limit of normal (ULN) (respectively 77% and 84%). Our results support the use of EMA to increase CD diagnostic accuracy in a non-biopsy approach, especially in asymptomatic children.

Characterization of molecular features of pediatric urothelial bladder carcinomas.

2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 345-345
Author(s):  
Ana Collazo Lorduy ◽  
Mireia Castillo-Martin ◽  
Grace Hyun ◽  
Nataliya Gladoun ◽  
Carlos Cordon-Cardo
Keyword(s):  
Bladder Cancer ◽  
Mutational Analysis ◽  
Pediatric Population ◽  
Pcr Amplification ◽  
Low Grade ◽  
Pediatric Tumors ◽  
Rare Entity ◽  
Ki 67 ◽  
Molecular Features

345 Background: Bladder cancer is a rare entity in the pediatric population making it difficult to define surveillance protocols and long term outcomes. Notably, most pediatric tumors are low grade and non-muscle invasive and do not recur. In order to determine the source of the different natural history between pediatric population and adults, we hypothesized that pediatric bladder cancer may potentially stem from different molecular pathways than its adult form. Our main objective was to study the molecular pathogenesis in this rare disease using immunohistochemical (IHC) and mutational analysis of the main known genes involved in bladder cancer. Methods: Paraffin-embedded tissue slides of bladder tumors from three pediatric patients were retrospectively identified from our institution's pathology archives (1990-present) and re-evaluated. Clinical data was reviewed. FGFR3, H-RAS, and PI3K mutational analysis of the most well-known mutated spots was conducted by PCR amplification and Sanger sequencing. IHC analysis was conducted using antibodies against p53, Pten, Rb, EGFR, Her2Neu and ki-67. Results: Two patients had low-grade Ta disease, whereas the other tumor was classified as a Papillary Urothelial Neoplasm of Low Malignant Potential (PUNLMP). None of the lesions recurred. Two patients were female and one was male. The ages at diagnosis were 13, 11, and 17, with a mean follow-up of 5.2 years (Range: 1.5-8.0 years). All specimens showed H-RAS G12V mutation, whereas they were characterized by wild-type FGFR3 and PI3K. Nuclear p53 was not detected, whereas PTEN and Rb expression were maintained. EGFR was homogenously expressed in the three cases, and Her2Neu was negative. The proliferation rate analyzed by Ki-67 expression was very low in all cases (<5%). Conclusions: Pediatric tumors may arise from a pathway that is not initiated by FGFR3 or p53 mutations, but by H-RAS mutations. This distinction may explain the relatively few recurrences seen in the pediatric population. Molecular investigation of larger series of pediatric tumors is warranted, and will aid in determining the surveillance and the clinical follow up, if any, needed in this rare entity.

scholarly journals Strong Association of Celiac Disease Serology with Idiopathic Autoimmune Hemolytic Anemia from Western India

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4807-4807
Author(s):  
Kiran C. Shah ◽  
Kanjaksha Ghosh ◽  
Kanchan Mishra ◽  
Prashant K Naik
Keyword(s):  
Celiac Disease ◽  
Western Blot ◽  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Tissue Transglutaminase ◽  
Population Characteristics ◽  
High Dose ◽  
Western India ◽  
Immune Hemolytic Anemia

Abstract Idiopathic autoimmune hemolytic anemia (AIHA) may be associated with positive autoimmune serology and some of the patients develop autoimmune disorder, malignancy on long follow up. There are no cohort studies on AIHA from India with long follow up. As AIHA has no known etiology and different populations of the world differ in their genetic makeup, environment background, it is likely that underlying conditions associated with AIHA will also vary in different countries with different population characteristics. Present study evaluates association of autoimmune markers along with follow up of a cohort of 21 well characterized AIHA patients from Gujarat, a western state of India. The cohort comprises of 2 men and 19 women aged between 20-72 years (Mean 36 years), followed up for a varying period of 6 month to 25 years (Mean 41/2years) after the diagnosis. AIHA was diagnosed by classical criteria of clinical presentation with severe weakness with feeling of being unwell, pallor and yellow discoloration coupled with laboratory parameters showing low hemoglobin (3.7-7.2 g/dL), high serum bilirubin level ( 2.1-3.8 mg/dl) , high reticulocyte count (5-69%) and strong direct anti human globulin(AHG) test coupled with absence of any other disease on detailed biochemical, flow cytometry (PNH, clonal disorders excluded) and other relevant imaging studies. Bone marrow examination was done in all patients. Splenomegaly of varying degree was present in 16/21 (78%) of the patients. All patients except 3/21 (14%) received red cell transfusions following the diagnosis as the Hb levels were very low. Best cross matched red cells were provided along with high dose prednisolone (1 mg/kg body weight). One of the patients, a 32 year old lady presented with intense hemolysis, hepatosplenomegaly, lymphadenopathy and hemophagocytosis in peripheral blood and in the marrow. After their stabilization the patients were tested for several autoimmune markers e.g. ANA, Anti ds-DNA, Antiparietal Cell, Antithyroid, AntiCardiolipin, Anti-β2glycoprotein, anti-tissue transglutaminase antibody IgA and lupus anticoagulants. 11/21 patients became AHG negative within one year, however they continued to show positive reaction by western blot test. 7/21 (34%) positive for LA screening test (3 confirmed by platelet neutralization (14%), 2/21 positive for anti-β2 glycoprotein antibody. Anticardiolipin antibody and antiparietal cell antibody was negative in all. 4/21 were positive for antithyroid antibody and one of them needed thyroxine. 7/21 (34%) were ANA positive (6/7 anti dsDNA positive), one of them went on to develop SLE. One patient with LA positivity developed DVT in left leg and portal vein thrombosis. Most striking association in our cohort was seen with anti-transglutaminase antibody IgA, 8/21 (38%) were strongly positive for the antibody and 6/21 (28%) were in the borderline range. Hence 66% of our cohort had abnormal serology for celiac disease. AIHA in all our patients were well controlled 16/21 (78%) with steroid and azathioprine only, 4/21 underwent (18%) splenectomy. Single patient presenting with extensive hemophagocytosis and immune hemolytic anemia received weekly courses of Rituximab (375mg/m2), 4 cycles and her Hb was stabilized. Association of Celiac disease marker with AIHA in a large majority of patients needs further exploration. Western blot can be used when AHG tests become negative during follow up. Disclosures No relevant conflicts of interest to declare.

Population screening for celiac disease: Follow up of patients identified by positive serology

2007 ◽  
Vol 22 (4) ◽  
pp. 532-535 ◽  
Author(s):  
Raanan Shamir ◽  
Vered Yehezkely-Schildkraut ◽  
Corina Hartman ◽  
Rami Eliakim
Keyword(s):  
Celiac Disease ◽  
Population Screening ◽  
Positive Serology

scholarly journals THE PREVALENCE OF CELIAC DISEASE IN PATIENTS WITH IRON-DEFICIENCY ANEMIA IN CENTER AND SOUTH AREA OF IRAN

2015 ◽  
Vol 52 (4) ◽  
pp. 278-282 ◽  
Author(s):  
Mahmud BAGHBANIAN ◽  
Ali FARAHAT ◽  
Hasan Ali VAHEDIAN ◽  
Elham SHEYDA ◽  
Mohamad Reza ZARE-KHORMIZI
Keyword(s):  
Celiac Disease ◽  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Significant Relationship ◽  
Tissue Transglutaminase ◽  
Deficiency Anemia ◽  
P Value ◽  
Pathological Changes ◽  
Positive Serology ◽  
Significant Difference

Background - Celiac disease is an immune-mediated enteropathy due to a permanent sensitivity to gluten in genetically susceptible people. Iron-deficiency anemia is the most widely experienced anemia in humans. Iron-deficiency anemia additionally is a common extra intestinal manifestation of celiac disease. Objective - To investigate correlation between tTg levels and histological alterations and then to determine the prevalence of celiac disease in Center and South area patients of Iran with iron deficiency anemia. Methods - A total of 402 patients aged 12-78 years who presented with iron-deficiency anemia were included in this study. Hemoglobin, mean corpuscular volume and serum ferritin were determined. Venous blood samples for anti-tissue transglutaminase antibody immunoglobuline A and G were obtained from these patients. Upper gastrointestinal endoscopy was recommended to patients who had positive serology. Results - Of 402 patients with iron-deficiency anemia, 42 (10.4%) had positive serology for celiac disease. The small intestine biopsy of all patients with positive serology showed pathological changes (Marsh I, II & III). There was not significant difference in the mean hemoglobin level between iron-deficiency anemia patients with celiac disease and without celiac disease, duodenal biopsy results did not show significant relationship between the severity of pathological changes and levels of anti-tTG IgG (P -value: 0/869) but significant relationship was discovered between pathological changes and levels of anti-tTG IgA (P -value: 0/004). Conclusion - Screening of celiac disease by anti-tissue transglutaminase antibody should be completed as a routine investigation in patients with iron-deficiency anemia. Also physicians must consider celiac disease as a possible reason of anemia in all patients with iron deficiency anemia.

An Attempt of Specific Desensitising Treatment with Gliadin in Celiac Disease

2005 ◽  
Vol 18 (4) ◽  
pp. 709-714 ◽  
Author(s):  
G. Patriarca ◽  
N. Pogna ◽  
G. Cammarota ◽  
D. Schiavino ◽  
C. Lombardo ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Clinical Manifestations ◽  
Current Treatment ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Dietary Regimen ◽  
New Approach ◽  
Tissue Transglutaminase Antibodies

Gluten-free diet is the current treatment of celiac disease. We decided to verify the occurrence of histological and serological modification and/or clinical manifestations during a gradual and progressive introduction of gliadin in the diet and if it may induce a tolerance to food, as it occurs in allergic patients. We studied the case of a celiac woman with complete clinical and histological remittance after 10 years of gluten free diet. She took increasing daily doses of gliadin, reaching the final dose of 9 g of gliadin (15 g of gluten) in 6 months. Then she started a free dietary regimen. During the 15-month follow-up period esophago-gastro-duodenoscopy showed normal Kerckring folds and villi. Anti-gliadin, anti-endomysium and anti-tissue-transglutaminase antibodies, as well as the haematological and biochemical parameters remained normal. Our results represent a new approach in the research concerning celiac disease, and could provide a future line of study for its management.

Concordance of Intradepartmental Consultations of Barrett’s Dysplasia

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S54-S55
Author(s):  
Fengming Chen ◽  
Yongjun Liu ◽  
Francesca Ruggiero
Keyword(s):  
Patient Management ◽  
Clinical Information ◽  
Final Diagnosis ◽  
Progression Rate ◽  
Low Grade ◽  
Rate Of Progression ◽  
Major Discrepancy ◽  
A Minor ◽  
Optimal Patient Management

Abstract Introduction Barrett’s esophagus (BE) is a well-known precursor to esophageal adenocarcinoma (EAC). Simple BE has an annual rate of progression to EAC of only up to 0.5%, while BE with low-grade dysplasia (LGD) or with high-grade dysplasia (HGD) has a higher progression rate of ~10% and ~40%, respectively. Therefore, accurate diagnosis and grading of dysplasia in BE are critical for optimal patient management. However, grading dysplasia is not well defined in practice, which often results in poor interobserver and/or intraobserver reproducibility. In this study, we aim to (1) investigate the concordance of intradepartmental consultations of BE dysplasia and (2) compare consultant diagnosis with final diagnosis and follow-up diagnosis. Methods We retrospectively reviewed 856 intradepartmental consultation records obtained from May 2017 to March 2018. For cases of Barrett’s dysplasia in biopsy specimens, H&E-stained slides were re-reviewed and the corresponding clinical information was retrieved from the electronic medical record. Results Twenty intradepartmental consultation cases of Barrett’s dysplasia were identified (involving 2 females and 18 males, mean age 67.8 ± 8.6 years, ranging 50-81 years). The most frequent reasons for consultation were indefinite dysplasia (IND) vs LGD and LGD vs HGD. Half of the cases showed concordance between referring pathologist and consultant pathologist(s), while 10% of the case showed a major discrepancy (resulting in significant changes in patient management and/or prognosis) and 40% showed a minor discrepancy (resulting in no significant impact on patient management and/or prognosis). The final diagnoses were changed after consultation for cases with major discrepancy, while 60% of cases with minor discrepancy remained the original diagnoses. Conclusions Intradepartmental consultations are strongly recommended for the challenging cases of BE dysplasia, which can effectively prevent over- or underdiagnosis. For challenging cases such as IND vs LGD, two or more consultants are usually needed to reach an agreement.

scholarly journals Investigation of Tissue Transglutaminase Antibody Normalization in Response to Gluten-Free Diet in Children with Celiac Disease

2021 ◽  
Vol 11 (01) ◽  
pp. e60-e64
Author(s):  
Mohsen Pour Ebrahimi ◽  
Hosein Alimadadi ◽  
Mehri Najafi ◽  
Mohammad Vasei ◽  
Parisa Rahmani
Keyword(s):  
Celiac Disease ◽  
Family History ◽  
Tissue Transglutaminase ◽  
Positive Family History ◽  
Gluten Free Diet ◽  
Histological Evaluation ◽  
Gluten Free ◽  
Significant Difference ◽  
History Of

AbstractA very limited amount of data are available regarding the follow-up of celiac disease (CD) treatment in Iran. The aim of this study is to investigate antitissue transglutaminase (atTG) normalization interval and the associated factors in CD patients. This retrospective study included CD patients enrolled in Children's Medical Center, Tehran University of Medical Sciences. The initial atTG titer and histological evaluation (with Marsh grade ≥2) were recorded. The atTG titer was assessed in each follow-up until the time of normalization where children were strictly on gluten-free diet. The age at the time of diagnosis, gender, Marsh grade at the time of diagnosis, other comorbidities, and family history of CD patients were recorded to determine the association of these factors with antibody normalization interval. In total, 71 patients were recruited in the study of which 34 (47.89%) subjects had atTG level below 20 U/mL at the average interval of 31.36 ( ±  2.89) months (95% confidence interval: 25.7–37.02). There was no significant difference between the antibody normalization interval and different age ranges and Marsh grade. Cox regression demonstrated that gender, age ranges, Marsh grade, positive family history of CD, and the presence of comorbidities did not significantly predict longer antibody normalization interval.

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