scholarly journals Celiac disease in first degree relatives of celiac children

2012 ◽  
Vol 49 (3) ◽  
pp. 204-207 ◽  
Author(s):  
Andreia Oliveira ◽  
Eunice Trindade ◽  
Marta Tavares ◽  
Rosa Lima ◽  
Mariana Terra ◽  
...  

CONTEXT - The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE - In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS - When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS - Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION - The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

2006 ◽  
Vol 36 (6) ◽  
pp. 771-778 ◽  
Author(s):  
I. JANSSEN ◽  
D. VERSMISSEN ◽  
J. À. CAMPO ◽  
I. MYIN-GERMEYS ◽  
J. VAN OS ◽  
...  

Background. The aims of the study were to investigate whether (i) patients with lifetime presence of non-affective psychosis show an external-personal attribution bias for negative events, (ii) this attribution style can also be detected in first-degree relatives of patients with psychosis and subjects with subclinical psychotic experiences, and (iii) this attribution style is related to the presence of psychotic symptoms, in particular delusions.Method. Participants were 23 patients with lifetime presence of non-affective psychosis, a high- risk group of 36 first-degree relatives of patients with non-affective psychosis, a high-risk group of 31 subjects with subclinical psychotic experiences and 46 normal controls. Attribution style was measured by the Internal, Personal and Situational Attribution Questionnaire. Positive symptoms were assessed with the Present State Examination (PSE) and the Scale for the Assessment of Positive Symptoms (SAPS).Results. Relative to the controls, an externalizing bias was apparent in the patient group (β=0·20, p=0·03) but not in the two high-risk groups. There was a dose–response association between externalizing bias and the delusions subscale of the PSE (relative to lowest level: highest level of delusions: β=0·53, p=0·04; intermediate levels of delusions: β=0·23, p=0·35). No significant differences were found in personalizing bias between the four groups.Conclusions. Patients with psychosis tend to use an externalizing bias in their explanations of negative social events, and this bias is associated with the presence of positive psychotic symptoms, in particular delusions. A deviant attribution style is not part of the vulnerability to psychosis.


2020 ◽  
Author(s):  
Jihang Luo ◽  
Puyu Liu ◽  
Leibo Wang ◽  
Yi Huang ◽  
Yuanyan Wang ◽  
...  

Abstract Background Colon cancer is the most common type of gastrointestinal cancer and has high morbidity and mortality. Colon adenocarcinoma(COAD) is the main pathological type of colon cancer. There is a lot of evidence describing the correlation between the prognosis of COAD and the immune system. The objective of the current study was the development of a robust prognostic immune-related gene pairs (IRGPs) model for estimating overall survival of COAD. Methods The gene expression profiles and clinical information of patients with colon adenocarcinoma come from TCGA and GEO databases and are divided into training and validation cohorts. Immune genes were selected which show significantly association with prognosis. Results Among 1647 immune genes, a 17 IRGPs model was built which was significantly associated with OS in the training cohort. In the training and validation data set, the IRGPs model divided patients into high-risk groups and low-risk groups, and the prognosis of the high-risk group was significantly worse( P <0.001). Univariate and multivariate Cox proportional hazard analysis confirmed the feasibility of this model. Functional analysis confirmed that multiple tumor progression and stem cell growth-related pathways in high-risk groups were up-regulated. T cells regulatory and Macrophage M0 were significantly highly expressed in the high-risk group. Conclusion We successfully constructed an IRGPs model that can predict the prognosis of COAD, which provides new insights into the treatment strategy of COAD.


2021 ◽  
Vol 105 (1-3) ◽  
pp. 559-563
Author(s):  
Seungmin Lee ◽  
Kwang Yeol Paik

Background The aim of this study is to examine whether pancreaticogastrostomy (PG) or pancreaticojejunostomy (PJ) is the better reconstructive method to reduce postoperative pancreatic fistula (POPF) after pancreaticoduodenectomy (PD) according to the fistula risk. Methods An institutional database was reviewed for patients undergoing PD between January 2008 and August 2019. A total of 159 patients were stratified into 4 groups according to the Clinical Risk Score-Pancreatic Fistula. POPF according to 4 risk groups was compared between PJ and PG. Results Of the 159 patients, 82 underwent PG (51.6%) and 77 underwent PJ (48.4%) reconstruction. POPF rate was 17.1% (n = 14) in the PG group and 12.9% (n = 10) in the PJ group (P = 0.51). POPF rates were not different in intermediate, low, and negligible risks between 2 reconstructive methods. In the high-risk group (n = 47), there were 4 POPFs (22.2%) in PJ group and 9 (31.0%) in the PG group, respectively (P = 0.74). Conclusion In PD, there was no superior method of reconstruction with regard to POPF, even in high-risk glands.


2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Morten Lindhardt ◽  
Nete Tofte ◽  
Gemma Currie ◽  
Marie Frimodt-Moeller ◽  
Heiko Von der Leyen ◽  
...  

Abstract Background and Aims In the PRIORITY study, it was recently demonstrated that the urinary peptidome-based classifier CKD273 was associated with increased risk for progression to microalbuminuria. As a prespecified secondary outcome, we aim to evaluate the classifier CKD273 as a determinant of relative reductions in eGFR (CKD-EPI) of 30% and 40% from baseline, at one timepoint without requirements of confirmation. Method The ‘Proteomic prediction and Renin angiotensin aldosterone system Inhibition prevention Of early diabetic nephRopathy In TYpe 2 diabetic patients with normoalbuminuria trial’ (PRIORITY) is the first prospective observational study to evaluate the early detection of diabetic kidney disease in subjects with type 2 diabetes (T2D) and normoalbuminuria using the CKD273 classifier. Setting 1775 subjects from 15 European sites with a mean follow-up time of 2.6 years (minimum of 7 days and a maximum of 4.3 years). Patients Subjects with T2D, normoalbuminuria and estimated glomerular filtration rate (eGFR) ≥ 45 ml/min/1.73m2. Participants were stratified into high- or low-risk groups based on their CKD273 score in a urine sample at screening (high-risk defined as score &gt; 0.154). Results In total, 12 % (n = 216) of the subjects had a high-risk proteomic pattern. Mean (SD) baseline eGFR was 88 (15) ml/min/1.73m2 in the low-risk group and 81 (17) ml/min/1.73m2 in the high-risk group (p &lt; 0.01). Baseline median (interquartile range) urinary albumin to creatinine ratio (UACR) was 5 (3-8) mg/g and 7 (4-12) mg/g in the low-risk and high-risk groups, respectively (p &lt; 0.01). A 30 % reduction in eGFR from baseline was seen in 42 (19.4 %) subjects in the high-risk group as compared to 62 (3.9 %) in the low-risk group (p &lt; 0.0001). In an unadjusted Cox-model the hazard ratio (HR) for the high-risk group was 5.7, 95 % confidence interval (CI) (3.9 to 8.5; p&lt;0.0001). After adjustment for baseline eGFR and UACR, the HR was 5.2, 95 % CI (3.4 to 7.8; p&lt;0.0001). A 40 % reduction in eGFR was seen in 15 (6.9 %) subjects in the high-risk group whereas 22 (1.4 %) in the low-risk group developed this endpoint (p&lt;0.0001). In an unadjusted Cox-model the HR for the high-risk group was 5.0, 95 % CI (2.6 to 9.6; p&lt;0.0001). After adjustment for baseline eGFR and UACR, the HR was 4.8, 95 % CI (2.4 to 9.7; p&lt;0.0001). Conclusion In normoalbuminuric subjects with T2D, the urinary proteomic classifier CKD273 predicts renal function decline of 30 % and 40 %, independent of baseline eGFR and albuminuria.


2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi152-vi153
Author(s):  
Ryan Rui Yang ◽  
Kay Ka-Wai Li ◽  
Ho-Keung Ng

Abstract In the 2016 WHO classification of tumors of the CNS, isocitrate dehydrogenase (IDH) mutation is a main classifier for lower-grade astrocytomas and IDH mutated astrocytomas is now regarded as a single group with good prognosis. However, the molecular and clinical heterogeneity among IDH-mutant lower-grade astrocytomas have only rarely been investigated. In this study, we recruited 161 IDH-mutant lower-grade astrocytomas, and examined PDGFRA amplification, CDKN2A deletion, and CDK4 amplification by FISH analysis, TERT promoter mutation by Sanger sequencing, and ATRX loss and p53 expression by immunohistochemistry. We identified PDGFRA amplification, CDKN2A deletion, and CDK4 amplification in 18.6%, 14.9%, and 18.0% of our cohort respectively, and these alterations occurred in a mutually exclusive fashion. PDGFRA amplification was associated with shorter PFS (p< 0.0001) and OS (p< 0.0001). In tumors without PDGFRA amplification, CDKN2A deletion was associated with a shorter PFS (p=0.0332). Tumors were then divided into three risk groups based on the presence of molecular alterations: high-risk (PDGFRA amplification), intermediate-risk (CDKN2A deletion or CDK4 amplification) and low-risk (neither CDKN2A deletion, CDK4 amplification nor PDGFRA amplification). These three risk groups were significantly different in overall survival with mean survivals of 40.2, 62.9, and 71.8 months. The high-risk group also demonstrated a shorter PFS compared to intermediate- (p=0.036) and low-risk (p< 0.0001) groups. Our data illustrate that IDH-mutant lower-grade astrocytomas is not a homogeneous group and should be molecularly stratified for risk.


2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Kristina Baraba Dekanić ◽  
Ivona Butorac Ahel ◽  
Lucija Ružman ◽  
Jasmina Dolinšek ◽  
Jernej Dolinšek ◽  
...  

Introduction. Celiac disease (CD) is an autoimmune disease triggered by gluten in genetically predisposed individuals. Despite the increasing prevalence of CD, many patients remain undiagnosed. Standard serology tests are expensive and invasive, so several point-of-care tests (POC) for CD have been developed. We aimed to determine the prevalence of CD in first-grade pupils in Primorje-Gorski Kotar County, Croatia, using a POC test. Methods. A Biocard celiac test that detects IgA antibodies to tissue transglutaminase in whole blood was used to screen for celiac disease in healthy first-grade children born in 2011 and 2012 who consumed gluten without restrictions. Results. 1478 children were tested, and none of them were tested positive with a rapid test. In 10 children (0,6%), IgA deficiency has been suspected; only 4 of them agreed to be tested further for total IgA, anti-tTG, and anti-DGP antibodies. IgA deficiency was confirmed in 3 patients, and in all 4 children, CD has been excluded. Conclusion. Our results have not confirmed the usefulness of the POC test in screening the general population of first-grade schoolchildren. Further research is needed to establish the true epidemiology of CD in Primorje-Gorski Kotar County and to confirm the value of the rapid test in comparison with standard antibody CD testing.


2020 ◽  
Vol 2020 ◽  
pp. 1-15
Author(s):  
Jianfeng Zheng ◽  
Benben Cao ◽  
Xia Zhang ◽  
Zheng Niu ◽  
Jinyi Tong

Cervical cancer (CC) is a common gynecological malignancy for which prognostic and therapeutic biomarkers are urgently needed. The signature based on immune-related lncRNAs (IRLs) of CC has never been reported. This study is aimed at establishing an IRL signature for patients with CC. A cohort of 326 CC and 21 normal tissue samples with corresponding clinical information was included in this study. Twenty-eight IRLs were collected according to the Pearson correlation analysis between the immune score and lncRNA expression ( p < 0.01 ). Four IRLs (BZRAP1-AS1, EMX2OS, ZNF667-AS1, and CTC-429P9.1) with the most significant prognostic values ( p < 0.05 ) were identified which demonstrated an ability to stratify patients into the low-risk and high-risk groups by developing a risk score model. It was observed that patients in the low-risk group showed longer overall survival (OS) than those in the high-risk group in the training set, valid set, and total set. The area under the curve (AUC) of the receiver operating characteristic curve (ROC curve) for the four-IRL signature in predicting the one-, two-, and three-year survival rates was larger than 0.65. In addition, the low-risk and high-risk groups displayed different immune statuses in GSEA. These IRLs were also significantly correlated with immune cell infiltration. Our results showed that the IRL signature had a prognostic value for CC. Meanwhile, the specific mechanisms of the four IRLs in the development of CC were ascertained preliminarily.


Proceedings ◽  
2018 ◽  
Vol 2 (25) ◽  
pp. 1538
Author(s):  
Safiye Aktas ◽  
Ayse Pinar Ercetin Ozdemir ◽  
Efe Ozgur Serinan ◽  
Zekiye Altun ◽  
Nur Olgun

Recent studies have shown that cancer cells can deceive phagocytosing macrophage cells through the CD47 protein which gives the message “don’t eat me” or “don’t kill me” to immune components. The efficacy of anti-CD47 treatment approach was shown in cancers such as, non-small cell lung cancer, non-Hodgkin lymphoma, ovarian cancer, and breast cancer. The studies on the immunobiology of neuroblastoma has increased as monoclonal antibody based immunotherapy has shown to be effective in high-risk patients such as anti disialoganglioside. Therefore, the aim of this study was to evaluate the levels of CD47 protein expression among neuroblastoma patients with different risk groups and genetic alterations. This study included paraffin-embedded tumor tissues of 66 neuroblastoma patients (28 girls, 38 boys) with an age range of 0.5 to 108 months with a mean value of 24.9 (±23.5). According to risk classifications 21 were at low risk (31, 8%), 24 were at intermediate risk (36, 4%) and 19 were at high-risk (28, 8%) groups. These samples were evaluated for MYCN amplification, 1p36 LOH, 11q23 deletion and 17q25 gain by real-time PCR. In addition, CD47 expression status (positive or negative) was detected by immunohistochemical analysis. All data was analyzed with Chi-Square and Mann-Whitney U non-parametric tests within SPSS program, version 22.0. p value lower than 0, 5 was found statistically significant. According to the results, patients at low risk did not express CD47, while patients at high-risk group were mostly expressing CD47 (p = 0.049). MYCN amplification positive patients were expressing CD47 protein (p = 0.046). Patients without 17q25 gain were found to be expressing CD47 protein (p = 0.006). In addition, CD47 expression was increasing as age was getting higher in terms of months (p = 0.018). The findings of this study suggest that positive expression pattern of CD47 may be a poor prognostic biomarker especially in high risk 17q gain negative neuroblastoma patients.


2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Juan Castro ◽  
Luis Sanchez ◽  
María Teresa Nuñez ◽  
Ming Lu ◽  
Tomas Castro ◽  
...  

Cancer is known to spread up to 12 years before clinical symptoms occur, but few screening tests exist. Early detection would give the opportunity for early treatment, potentially improving prognosis. To this end, 3388 subjectively healthy individuals of age 45 to 80 who had been exposed to cancer risk factors were screened for the occurrence of circulating tumor cells in their blood. Presence of circulating tumor cells is a suspicious finding indicative of spreading cancer, since cancer metastasizes by way of the blood and offers the opportunities to (a) follow up the individual clinically based on established guidelines for early detection of cancer and (b) evaluate the cells further analytically. 107 individuals showed one or more circulating tumor cells in a 7.5 ml blood sample, which constitutes a positive circulating tumor cell test, based on the iCellate IsoPic™ laboratory test. That number compares favorably with the cancer incidence per 100,000 people/year that is 157.1 in Peru, given that a high-risk group of individuals was screened and that the screening results would be expected to correspond to an accumulated incidence of up to 12 years. The present findings therefore identify screening for circulating tumor cells as a promising new test.


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