Prevalence of HLA DQ 2, 8 in children with celiac disease

2021 ◽  
pp. 1-6
Author(s):  
Seyed Mohsen Dehghani ◽  
Naqi Dara ◽  
Behrooz Gharesifar ◽  
Iraj Shahramian ◽  
Fatemeh Dalili ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Normal Population ◽  
Failure To Thrive ◽  
Hla Typing ◽  
Control Group ◽  
P Value ◽  
Normal Children ◽  
Hla Dq ◽  
Inducing Factors ◽  
Hla Dq2

OBJECTIVE: Celiac disease is a chronic disease that affect small bowel by making its villi become atrophic. Various environmental and genetic factors have been identify as inducing factors for celiac disease. Most of the patients has one of the HLA DQ forms. Although the prevalence of these genes are variable in different areas of the world, we do not have a comprehensive information about this issue in our region. Thus the aim of present study is to investigate the prevalence of HLA DQ typing of patients who visited Emam Reza Gastroenterology clinic of Shiraz(IRAN). METHODS: In this case-control study all under 18 years old children who were diagnosed with celiac disease and have visited Emam Reza gastroenterology clinic were investigated. The diagnosis of celiac disease was made by history, physical exam, serologic test, and histopathology of duodenal biopsy. Blood sample was taken and HLA typing performed using PCR method at Motahari clinic cytology laboratory. Also those people who neither them self nor their first degree relatives were not case of celiac disease and underwent HLA typing for other reason were identified as control group. The statistical analysis was done using SPSS 18 software. The p value < 0.05 was identified as statistically significant. RESULTS: A total of 139 patients with celiac disease and 146 normal children were studied. The mean age of the patient with celiac disease were 9.1 years old with standard deviation of 3.4 years old. 64% of the celiac patients were girls and 36% were boys. While this proportion was 54.4% for boy and 48.6% for girls in control group. The most common HLA in celiac patients group were HLA DQ2 and 8 but the most common ones in control group were HLA DQ 8 and 5. Failure to Thrive were the most common signs of the celiac patients with a prevalence of 60 children. Total IgA titer were normal in 98.6% of the patients and TTG IgA titer were positive in 93.5% of the patients. The most common co existing disease with the celiac disease were diabetes with a prevalence of 30 children (66.7%). CONCLUSION: present study reveals that the prevalence of the HLA DQ2 and 8 among patients with celiac disease is 72.6% and 53% in our normal population.

scholarly journals The Association of Myasthenia Gravis with HLA class II Antigens in Iraqi Patients

2013 ◽  
Vol 10 (1) ◽  
pp. 126-132
Author(s):  
Baghdad Science Journal
Keyword(s):  
Myasthenia Gravis ◽  
Class Ii ◽  
Hla Class Ii ◽  
Control Group ◽  
P Value ◽  
Hla Dq ◽  
Healthy Control ◽  
Hla Dr3 ◽  
Class Ii Antigens ◽  
Hla Dq2

The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigen (HLA) haplotypes differ between ethnic populations, so this study determined the association of HLA class II antigens with myasthenia gravis (MG) in Iraq.The study included Iraqi patients diagnosed with MG and two control groups the first of 54 insulin dependent diabetes mellitus patients and the second of 237 subjects as a normal control group. The test used was microlymphocytotoxicity test.The work was done in the Teaching Laboratories/Medical City/Baghdad.Results: positive associations were observed (etiological risk factors) as follows: 1. HLA-DR locus showed one positively associated allele when compared to healthy control and this was HLA-DR3 (RR: 21.05, EF0.73, & P value ? 0.05), While when compared to IDDM control no significant association appeared (since the same allele is positively associated with IDDM). 2. HLA-DQ locus showed only one positively associated allele when compared to healthy control; this was HLA-DQ2 (RR 4.67, EF 0.50, and P value ? 0.05). While no significant association appeared when compared to IDDM control. Other important clinical association were observed; association with age, gender, strong stressful events, thymoma, and other autoimmune disorders. Conclusion: The positively associated antigens which were found as follows HLA-DR3 and HLA-DQ2, while no negative association was detected.

scholarly journals HLA Haplotype Association with Celiac Disease in Albanian Pediatric Patients from Kosovo

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Atifete Ramosaj-Morina ◽  
Marija Burek Kamenaric ◽  
Mehmedali Azemi ◽  
Lidvana Spahiu ◽  
Zorana Grubic ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Statistical Significance ◽  
Population Data ◽  
Control Group ◽  
Hla Dq ◽  
The Individual ◽  
Hla Haplotypes ◽  
The Given ◽  
Hla Dq2

Genetic predisposition to celiac disease (CD) is strongly associated with the presence of HLA alleles in the individual genotype encoding HLA-DQ2 and/or HLA-DQ8 heterodimers. The main aim of this study was to analyze the HLA-A, -B, -DRB1, and -DQ allele and five-locus haplotype frequencies in 60 Albanian pediatric CD patients and 124 non-CD children from Kosovo. The most prevalent haplotype in patients was the ancestral AH 8.1 haplotype present in 22.5% of the cases compared to 2.8% of the controls (P<0.0001). Additionally, two other haplotypes were also overrepresented in patients (HLA-A∗02~B∗50~DRB1∗07~DQA1∗02:01~DQB1∗02:02 and HLA-A∗68~B∗44~DRB1∗07~DQA1∗02:01~DQB1∗02:02). Analysis showed that 95.0% of CD patients and 43.3% of controls were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers. The most frequent CD-predisposing HLA-DQ haplotypes in patients were HLA-DQ2.5 (46.7%) and HLA-DQ2.2 (11.6%), while the most prevalent genotypes were HLA-DQ2.5/DQX (58.3%) and HLA-DQ2.5/DQ2.2 (20.0%). The frequency of the HLA-DQ8 heterodimer among CD patients (4.2%) compared to the control group (8.1%) was without statistical significance. The given data demonstrate differences in the distribution of HLA haplotypes among Albanian CD patients from Kosovo in comparison to other European and non-European populations, as well as provide additional population data to supplement the thus far undisputed importance of the role of HLA-DQ2 and HLA-DQ8 heterodimers in the development of CD.

scholarly journals Mitochondrial Dysfunction in Early Diagnosed Autism Spectrum Disorder Children

2017 ◽  
Vol 26 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed
Keyword(s):  
Autism Spectrum Disorder ◽  
Mitochondrial Dysfunction ◽  
Venous Blood ◽  
Autism Spectrum ◽  
Serum Lactate ◽  
Spectrum Disorder ◽  
Control Group ◽  
P Value ◽  
Blood Ammonia ◽  
Normal Children

Background: Mitochondrial dysfunction and abnormal brain bioenergetics can cause autism.Cellular function impairment due to mitochondrial dysfunction may cause cognitive impairment, language deficits and abnormal energy metabolism in autism.Objective: The aim of this study was to evaluate biochemical evidence of the mitochondrial dysfunction by measuring blood ammonia, serum lactate, alanine aminotransferase (ALT), aspartate aminotransferase (AST) and creatinine kinase (CK) in autism spectrum disorder children.Methods: This observational type of analytical study with case-control design was conducted in the Department of Physiology of Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka. For this study, a total number of 20 Subjects were randomly selected, among which 10 were apparently healthy subjects (control group-A) for comparison and 10 were diagnosed children with autism spectrum disorder (study group-B). 5ml venous blood was collected from both groups for analysis serum CK, AST, ALT, lactate and blood ammonia. Blood ammonia, serum lactate, AST, ALT and CK level were estimated in all children by standard laboratory method. Independent sample‘t’ test was used for statistical analysis. P value <0.05 was accepted as significant. The mean of all the measured biochemical variables in normal children were within normal ranges.Result: Blood ammonia, serum lactate, AST, CK were found significantly higher in autism spectrum disorder children in comparison to control Conclusion: From the result of this study it may be concluded that mitochondrial dysfunction occur in autistic spectrum disorder children .J Dhaka Medical College, Vol. 26, No.1, April, 2017, Page 43-47

scholarly journals Evaluation of the Utility of Amino Acid Citrulline as a Surrogate Metabolomic Biomarker for the Diagnosis of Celiac Disease

2021 ◽  
Vol 14 ◽  
pp. 117863882110606
Author(s):  
Avinash Lomash ◽  
Anupa Prasad ◽  
Raghvendra Singh ◽  
Somesh Kumar ◽  
Rishi Gupta ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Hla Typing ◽  
Assessment And Evaluation ◽  
Plasma Citrulline ◽  
Hla Dq ◽  
Median Plasma ◽  
Latent Potential ◽  
Damage Extent ◽  
Increasing Trends

Introduction: Citrulline is regarded as a biomarker for celiac disease (CD). Its utility for assessment and evaluation of additive predictive value for latent, potential CD and first degree relatives (FDRs) needs exploration. Method: Consecutive 558 index cases diagnosed as per European Society for Pediatric Gastroenterology and Nutrition (ESPGHAN) 2012 guidelines and their 1565 FDRs were evaluated over five and half year period. Serology negative FDRs at initial visit and follow ups were served as controls. HLA typing for DQ2 and DQ8 genotypes, along with plasma and dried blood spot (DBS) filter paper citrulline were evaluated. Results: Median plasma citrulline values were 20.1 and 37.33 µMol/l in cases and controls ( P < .001). Cut off values for Marsh grade 3a, 3b, and 3c were 35.0, 32.8, 25.26 µMol/l in CD patients and 36.51, 30.10, 25.26 µMol/l in biopsy proven FDR. Increasing trends of plasma citrulline levels with decreasing tTG-IgA levels were observed on follow up. Low plasma citrulline levels were observed with HLA DQ 2.5 genotype ( P < .05). Agreement between DBS and plasma citrulline was 94.8%. Conclusion: Citrulline is a good surrogate biomarker for identification of histopathological grade of damage, extent of mucosal recovery and has negative correlation with tTG-IgA. It identifies the silent and latent phase of CD. DBS citrulline provides adequate information and can be used for monitoring CD patients at remote locations.

scholarly journals The importance of genetic factors in the development of celiac disease in children of the Uzbek population

2020 ◽  
pp. 22-27
Author(s):  
Z.M. Abdujabarova ◽  
◽  
A.T. Kamilova ◽  
Keyword(s):  
Celiac Disease ◽  
Relative Risk ◽  
Medical Center ◽  
Class Ii ◽  
Control Group ◽  
Population Genetic Study ◽  
Hla Dq ◽  
Sick Children ◽  
Hla Dqa1 ◽  
Relationship Of

The results of genetic studies have proven the relationship of celiac disease with class II genes of the major histocompatibility complex (HLA), in particular with the DQ locus. The presence of specific alleles at the HLA-DQ locus is necessary, but insufficient, for the realization of the disease phenotype. In Uzbekistan, the distribution of HLA markers in children with celiac disease has not been studied and these studies are required. Purpose — to establish the peculiarities of the distribution of HLA II class celiac disease alleles in children in the Uzbek population. Materials and methods. We examined 54 children with celiac disease of the Uzbek population, who were registered and receiving inpatient treatment at the Republican Specialized Scientific and Practical Medical Center of Pediatrics. The age of the examined children was from 1 to 14 years old, the average age was 7.3±1.9 years. The control group consisted of 109 unrelated Uzbeks without immune diseases. Molecular typing of HLA II class genes was determined by DNA chain reaction polymerase. Results. As a result of gene typing, 48 (88.8%) out of 54 investigated had DQ2 and DQ8 haplotypes associated with celiac disease. Haplotypes with only DQ2 and DQ8 were found in 19 (39.5%) and 7 (14.5%), respectively. DQ2 from 48 children was found in 18 (37.5%) children in the trans-position, in 2 (4,1%) — as two copies of DQ2 dimers, and in 1 (2%) case in combination with DQ8. Only in one case (2%) was DQ8 found as two copies of DQ8 dimers. The frequency of occurrence of the HLA-DRB1*07 and *13 alleles was significantly higher than in the control group. The maximum value of the relative risk and the criterion of reliability are noted in the DQA1*0501 allele, i.e. it is positively associated with celiac disease (χ2=7.28, RR=2.03). Significance criterion and relative risk were observed in sick children with DQB1*0201 (χ2=6.74, RR=1.97) associated with celiac disease. The number of haplotype (DQA1*0501-DQB1*0201) was 36 (75%). Conclusions. A specific predisposition to celiac disease in children of the Uzbek population is associated with the genes HLA-DQA1*0501, HLA-DQB1*0201, HLA-DRB1*07 and *13. Alleles such as DRB1*15, DQA1*0102, DQB1*0303 and *0502, have a protective effect in the development of celiac disease in children of the Uzbek population. A high frequency of carriage of the DRB1*13 — HLA-DQА1*0501 and DQB1*0201 (DQ2 type) haplotype in Uzbeks (75%) was found, which requires a more thorough population genetic study of the Uzbek population for the HLA II class DRB1-DQA1-DQB1 genes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: celiac disease, children, genetics, HLA class II.

scholarly journals MELATIH KEMANDIRIAN ANAK DOWN SYNDROME DENGAN MOTOTRAIN

2020 ◽  
Vol 13 (2) ◽  
Author(s):  
Machmudah Machmudah ◽  
Mochammad Shodiq
Keyword(s):  
Down Syndrome ◽  
Intervention Group ◽  
Sampling Technique ◽  
Toilet Training ◽  
Control Group ◽  
P Value ◽  
Maternal Knowledge ◽  
Normal Children ◽  
Children With Down Syndrome ◽  
Mothers And Children

Practicing toilet training from parents to children is quite challenging especially if the child has special needs. For children with Down syndrome, the habit of toilet training takes longer than normal children who can be completed before school age. The purpose of this study was to determine the effectiveness of Mototrain on maternal knowledge and independence of toilet training in children with Down syndrome. Mototrain is an acronym for Module of Toilet Training. The population and sample in this study were parents and students with Down syndrome who had not yet completed their toilet training independence, namely 31 students spread across Grade 1, Grade 2, Grade 3, Grade 4 and Grade 5 in SD C Alpha Kumara. The research design was "Quasi experimental pre-post test with control group", with a purposive sampling technique of 16 mothers and children in the intervention group and 15 mothers and children in the control group. The results showed an increase in maternal knowledge about toilet training and the independence of toilet training in children who used enough after being given psychoeducation and habituation in accordance with MOTOTRAIN (p-value <0.05).

scholarly journals CELIAC DISEASE

2016 ◽  
Vol 23 (07) ◽  
pp. 807-811
Author(s):  
Nagina Shahzadi ◽  
Muhammad Almas Hashmi ◽  
Sadida Bahawal
Keyword(s):  
Celiac Disease ◽  
Health Benefit ◽  
Gluten Free Diet ◽  
Control Group ◽  
P Value ◽  
Gluten Free ◽  
Newly Diagnosed ◽  
And Gender ◽  
Disease Study ◽  
Trial Setting

Objectives: Probiotics are alive organisms which confer health benefit whentaken at an appropriate dosage. This study was done to determine the efficacy of probiotics indecreasing the frequency of diarrhea in children with celiac disease. Study Design: Randomizedcontrolled trial. Setting: Department of Pediatrics/DHQ Allied Hospital, Faisalabad. Period:November 2011 to October 2012. Methods: Newly diagnosed patients with CD having diarrheawere included by consecutive non-probability sampling. Patients were randomized in twogroups using computer generated numbers. One group was given probiotic along with glutenfree diet while other was only prescribed gluten free diet. Reduction in frequency of diarrhea intwo groups was compared after a period of 28 days. Results: A total of 116 cases (58 in eachgroup) were enrolled. Mean age was 9.11 years. The groups were similar in age and gender ofpatients. Comparison of efficacy of probiotics in children with CD was done with control groupwhich revealed reduction in stools frequency to less than half in 86.21% (n=50) in probioticgroup but only 62.07% (n=36) in control group. P-value was 0.00015 which shows a highlysignificant difference in both groups. Conclusion: Probiotics in addition to gluten free diet arehighly effective in reducing the frequency of diarrhea in newly diagnosed patients with CD, incomparison with gluten free diet alone.

scholarly journals Screening for Celiac Disease in Children with Dental Enamel Defects

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Mostafa Abdel-Aziz El-Hodhod ◽  
Iman Ali El-Agouza ◽  
Hala Abdel-Al ◽  
Noha Samir Kabil ◽  
Khaled Abd El-Moez Bayomi
Keyword(s):  
Celiac Disease ◽  
Serum Calcium ◽  
Tissue Transglutaminase ◽  
Gastrointestinal Symptoms ◽  
Dental Enamel ◽  
Deciduous Teeth ◽  
Control Group ◽  
Normal Children ◽  
Enamel Defects ◽  
Calcium Phosphorus

Background. Dental enamel defects (DEDs) are seen in celiac disease (CD). Aim was to detect frequency of CD among such patients. Methods. This study included 140 children with DED. They were tested for CD. Gluten-free diet (GFD) was instituted for CD patients. A cohort of 720, age and sex-matched, normal children represented a control group. Both groups were evaluated clinically. Serum calcium, phosphorus, alkaline phosphatase, serum IgA, and tissue transglutaminase (tTG) IgG and IgA types were measured. Results. CD was more diagnosed in patients with DEDs (17.86%) compared to controls (0.97%) (P<0.0001). Majority of nonceliac patients showed grade 1 DED compared to grades 1, 2, and 3 DED in CD. Five children had DED of deciduous teeth and remaining in permanent ones. After 1 year on GFD, DED improved better in CD compared to nonceliac patients. Gastrointestinal symptoms did not vary between celiac and nonceliac DED patients. Lower serum calcium significantly predicted CD in this cohort. Conclusion. CD is more prevalent among children with DED than in the general population. These DEDs might be the only manifestation of CD; therefore, screening for CD is highly recommended among those patients especially in presence of underweight and hypocalcemia.

scholarly journals HLA-DQ2/DQ8 frequency in adult patients with celiac disease, their first-degree relatives, and normal population in Turkey

2019 ◽  
Vol 30 (4) ◽  
pp. 321-325 ◽  
Author(s):  
Safak Meric Ozgenel ◽  
◽  
Tuncer Temel ◽  
Hava Uskudar Teke ◽  
Pinar Yildiz ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Normal Population ◽  
Adult Patients ◽  
First Degree Relatives ◽  
Hla Dq2

A Study of Iron Status in Pediatric Patients with large complex Vascular Malfomations

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Mohamed Abdel-Mohsen Ellaboudy ◽  
Iman A Ragab ◽  
Amr Abdel Hamid Abo-Zeid ◽  
Heba G.A Ali ◽  
AliaaMourad Ahmed
Keyword(s):  
Iron Deficiency ◽  
Pediatric Patients ◽  
Vascular Malformations ◽  
Iron Status ◽  
Vascular Anomalies ◽  
Control Group ◽  
P Value ◽  
Normal Children ◽  
Large Complex ◽  
Significant Difference

Abstract Background Complex vascular malformations involving the gastrointestinal tract (GIT) are expected to develop iron deficiency.However, the haemoglobin and iron status of vascular anomalies unrelated to GIT were not addressed. Our aim was to study the frequency of anemia and iron status among pediatric patients with large/complex vascular malformations without evident bleeding and to correlate the findings with the type, site, severity and extension of vascular malformationand treatment with sirolimus. Patients and method A case control study of participants with large complex vascular malformationregistered at Ain Shams University vascular anomalies clinic during the period from June 2019 to June 2020.They were compared to 20 age, sex and socioeconomic standard matched healthy controls. Clinical and laboratory studies for iron status were performed. Results fifty percentof patients were anemic versus 65% of the control group (p value = 0.33).As regards iron status of patients, 35% has combined iron deficiency versus 40% of controls, 20% has functional iron deficiency versus 20% of controls, 5% has absolute iron deficiency versus 10% of controls (p value = 0.90). There was no significant difference between patients receivingsirolimus and who are not as regards anemia and iron status (p value = 0.36, 0.84, respectively). Conclusion The frequency of anemia and it s iron related classification are comparable in children with large vascular malformations with no bleeding manifestations to normal children.

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