scholarly journals Investigation of TAGAP gene polymorphism (rs1738074) in Turkish pediatric celiac patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.

Author(s):  
Elif Karatoprak ◽  
Samet Paksoy

AbstractThe aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.


2018 ◽  
Vol 41 (4) ◽  
pp. 390-396 ◽  
Author(s):  
Paweł Plakwicz ◽  
Joanna Abramczyk ◽  
Julita Wojtaszek-Lis ◽  
Jolanta Sajkowska ◽  
Barbara Warych ◽  
...  

Summary Objectives The aim of this study was to evaluate characteristics of patients with unilateral transmigration of a mandibular canine in the largest study group presented until now. Materials and methods The study group consisted of 93 patients with unilateral transmigration of mandibular canine; the control group included 85 non-affected patients. Type of transmigration, status of deciduous and permanent canines, prevalence of missing teeth, class of occlusion, and space conditions were assessed to draw comparisons between groups. Results In this study, 64.5 per cent patients presented type 1 of transmigration; types 2, 3, 4, and 5 were present in, respectively, 23.7, 5.4, 4.3, and 2.1 per cent patients. There was a clear, statistically significant difference (P < 0.0001) between the mean crown and apex migration and angulation for the three groups of canines (transmigrated, contralateral, and control), whereas no differences were observed for the total number of permanent teeth present. In the study group, 73.1 per cent patients retained their primary canine on the affected side and 18.3 per cent on the contralateral side; in the control group, 22.3 per cent subjects had at least one primary canine. There was a statistically significant difference in the distribution of types of malocclusion between the study and the control groups. Conclusions Transmigration of mandibular canine was associated with the presence of retained primary canine on the affected side, higher mesial tilting of contralateral mandibular canine when compared to the canines in the control group. Additionally, higher prevalence of Angle’s Class I occlusion in patients with canine transmigration was recorded.


Author(s):  
Abdullah Fatih Demirci ◽  
Coskun Ozer Demirtas ◽  
Fatih Eren ◽  
Demet Yilmaz ◽  
Caglayan Keklikkiran ◽  
...  

Background and Aims: Programmed cell death-1 (PD-1) has a vital role in regulating T-cell function, and immune escape mechanism of cancer cells. It was shown that there could be a relationship between single nucleotide polymorphisms (SNPs) in the PD-1 gene and susceptibility to hepatocellular carcinoma (HCC) based on various studies. We aimed to investigate the role of three SNPs within the PD-1 gene in susceptibility to HCC in the Turkish population. Methods: Single nucleotide polymorphisms of PD-1.1, 1.5, and 1.6 were genotyped by using TaqMan Allelic Discrimination Assays in blood samples of 137 HCC and 136 control subjects, matched for age and gender. The genotype, allele and haplotype frequencies were compared in HCC and control groups using logistic regression analysis. Results: Genotype distributions of PD-1.1, PD-1.5 and PD-1.6 SNPs were in Hardy-Weinberg equilibrium. No significant difference was observed in the genotype distribution of PD-1.1, PD-1.5 and PD-1.6 polymorphisms among gender and age-matched HCC (M/F: 96/41; mean age: 61.4 ±11.7 years) and control group (M/F: 94/42; mean age: 61.4±10.1). In the haplotype analysis of PD-1.1/PD-1.5/PD-1.6, no significant difference was found among HCC and control group adjusted for sex and age (all p values>0.1). Conclusion: Our findings, firstly reporting the association of PD-1.5 polymorphism with HCC, and PD-1.1 and PD-1.6 with HCC in the Turkish population, suggest that PD-1 polymorphisms are not predisposing factors for HCC development. Future studies with larger sample sizes and different ethnic populations are required to validate our findings.


2021 ◽  
Author(s):  
Abdulkadir Bucak ◽  
Ayşegül Bükülmez ◽  
Selcuk Kuzu ◽  
Çağlar Günebakan ◽  
Erkan Yıldız ◽  
...  

Abstract Purpose: In this study, our purpose is to evaluate cochlear and vestibular function in juveniles with HSV using audiometry, DPOAEs, and cVEMP tests.Methods: 40 children diagnosed with HSV from the pediatry clinic and 40 age and sex-matched healthy children were evaluated with distortion product otoacoustic emissions, audiometry, and cervical vestibular evoked myogenic potential (cVEMP) test in a tertiary hospital.Results: The audiometry average values ​​for both ears of HSV group and the control subjects were compared, and as a result, median 4.7 dB sensorineural hearing loss (SHL) was found for HSV group compared to control group at 250 Hz and it was statistically significant (p <0.001). An average of 6.4 dB SHL was detected at 8000 Hz (p <0.001). There was a statistically significant difference among HSV and control group regarding measurement results of average p1-n1 latency time of both ears (0.9 milliseconds (ms) increase, P = 0.035). In HSV patients, the median amplitude difference of both ears' average p1 n1 was found to be 5,6 millivolt, statistically significantly decreased compared to the control group (p = 0.003).Conclusion: This study, firstly in literature, demonstrated that HSV may cause hearing loss and vestibular dysfunction in children. We think this might be due to autoimmune mechanisms.


Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Yan-Hong Li ◽  
Jun-Yi Luo ◽  
Bin-Bin Fang ◽  
Guo-Li Du ◽  
Ting Tian ◽  
...  

Abstract Background CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China. Results In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants. Conclusions Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.


2012 ◽  
Vol 36 (2) ◽  
pp. 76-81
Author(s):  
AKM Amirul Morshed ◽  
Shahnoor Islam ◽  
Afiqul Islam

Background: Hb- E - ? thalassemia is a major congenital hematological disease of Bangladesh. These patients have poor growth and delayed maturation mainly due to iron overload but zinc deficiency also has been suggested as a contributing factor. Objectives: To investigate and compare the serum zinc of Hb E ? thalassemia patients and normal children and to see the relationship between serum zinc and growth status. Methods: This cross sectional study on Hb –E ? thalassemia was under taken in the out patient department of Paediatric Haematology and Oncology department of Bangabandhu Sheikh Mujib Medical University from July 2009- May 2010. Total 31 children with Hb- E- ? thalassemia were enrolled for this study and matched 30 healthy children were taken as control. History of the cases were taken thoroughly and examination were done by the investigator himself. Anthropometry were measured properly and plotted in Centre for Disease Control (CDC) chart. Three ml (3 ml) of venous blood samples were drawn from both patient and control. Later on the blood samples were centrifuged and serum was stored at – 20c till analysis for serum sinc level. Serum level of zinc was measured by using Flame Atomic Absorption Spectrophotometry following standard proceduve. Results: Mean serum zinc level in thalassemic group and control group were 97.4?g/dl (SD-18.4) and 99.6?g/dl (SD-18.7) respectively. There was no significant difference between two groups (p=.47). Mean percent of 50th centile of weight achieved was 75.9% in cases and 81% in control. Similarly mean percent of 50th centile of height achieved was 89% in cases and 93% in control. There was significant difference in height for age between both the groups (p=.05). Conclusion: Serum zinc level did not significantly changed in thalassemic group and control group children. But there were significant stunting in Hb –E ? thalassemia patients and no significant difference was found between these children in terms of weight for age. DOI: http://dx.doi.org/10.3329/bjch.v36i2.13083 Bangladesh J Child Health 2012; Vol 36 (2): 76-81


QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
E A Zaky ◽  
E M Fouda ◽  
H A Eldesouky ◽  
A S Abdhakeem

Abstract Aim of work This is a cross sectional case control study to asses vocal folds abnormalities and voice analysis in asthmatic children to detect subclinical changes and to correlate them with their various clinical and functional grading and level of control. Methods the study included 48 asthmatic children (34 males and 14 females ) regularly attending Pediatric chest Clinic, Ain Shams university for follow up.Their median age was 7.8 years ± 2.15 IQR. A 12 age and sex matched healthy children were chosen as control group. For all patients and control the following were done: history taking,General and chest examination, Spirometry Pulmonary functions(FEV1,FVC,), videolaryngoscopy (VLS)and Multidimensional voice analysis (MDVA) . Results VideoLaryngoscopy (VLS) of asthmatic patients showed different abnormalities in 26 cases ( 54.2% ).eg Phonatory west 1mm from the middle line(4 cases), Bilateral vocal folds nodules (4 cases), Bilateral thickening of both vocal folds(3 cases), Vocal fold cyst.(4 cases). Asthmatic children with abnormal finding in (VLS) had a statistical significant lower values of FEV1 and MMEF with higher percentage of poor asthma control. Voice analysis showed impairment of voice acoustics in asthmatic children with significant difference between asthmatic and control as regards voice analysis data with significant higher jitter and shimmer dB (measure of voice amplitude and detector of early hoarseness of voice) . Conclusion Asthmatic patients may have an associated Laryngeal or vocal folds abnormalities which are considered a comorbid condition and one of the causes of poor asthma control. Voice analysis may help in detection of subclinical hoarseness of voice which may be sequelae of chronic cough or side effects of inhaled steroids.


Author(s):  
Mohadeseh Agahi ◽  
Zahra Noormohammadi ◽  
Iman Salahshourifar ◽  
Niloufar Mahdavi Hezaveh

Objective: Schizophrenia is a complicated mental disorder that affects about 1% of the world's population. It is a complex disease and is approximately 80% inherited. One of the candidate genes in schizophrenia is transcription factor 4 (TCF4), which is positioned on chromosome 18 and is a transcription factor that plays a role in the transcription of Neurexin 1(NRXN1) gene, which is one of the candidate genes for developing schizophrenia. This case-control study aimed to investigate the correlation of TCF4 rs13381800 and NRXN1 rs17039988 polymorphisms with the risk of schizophrenia in a sample of Iranian patients with schizophrenia. Method: A total of 200 individuals were included in this study: 100 patients with schizophrenia (65 males and 35 females), with the mean age of 40.80 ± 11.298 years, and 100 as a control group (63 males and 37 females), with the mean age 32.92 ± 7.391 years. Allele specific polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were done, respectively, for genotyping of rs13381800 (T/C) and rs17039988 (A/C) polymorphisms. Results: The results showed that the frequency of C / C genotype in rs13381800 in patients’ group was 9%, while it was 13% in the control group. Also, the frequency of C / C genotype in rs17039988 was 9% in patients and 7% in control groups. Statistical analysis of polymorphisms showed no correlation between patients and controls in rs13381800 (OR = 1.51; CI = 95%; P = 0.366) and rs17039988 (OR = 0.76; CI = 95%; P = 0.602). Conclusion: No significant difference was found between rs13381800 and rs17039988 genotypes between patients and control groups in terms of gender, age and education in the patients group. Our study suggests that there was no correlation between desired polymorphisms with schizophrenia in the studied population.


2018 ◽  
Vol 15 (2) ◽  
pp. 15-20
Author(s):  
Amir Hossein Movahedian ◽  
Ali Mohammad Shakiba ◽  
Mojtaba Sehat ◽  
Maryam Sadat Razavi ◽  
Marzieh Heydarzadeh Arani

Background and Aims: Syncope is due to brain dysfunction and is a common compliant among children. It accounts for almost 3% of all emergency departments (ED) visits. The aim of this study was to evaluate the QT dispersion in children with syncope in Shahid Beheshti Hospital of Kashan in 2014.Methods: This was a descriptive cross-sectional study performed among 50 children with syncope attacks (case group) referred to the Clinic of Shahid Beheshti Hospital in Kashan during 2014 and 50 healthy children (control group) referred to the center for causes such as a cold or developmental examination. ECG was taken and QT, QTd (QT dispersion), QTc (Corrected QT interval) and QTcd (QTmin-QTmax =QT dispersion) intervals were studied. After proper explanation to the parents, data was obtained from the case and control group and was analyzed using Chisquare, Mann-Whitney, Kolmogorov–Smirnov, Levene›s, Kruskal-Wallis statistical tests.Results: Total, there were 100 children in the study, the participants were divided into two groups of case (n=50) and control (n=50). Among the studied children, a total of 46 of them (46%) were boys. The mean age range of children in the case and control groups were 7.73± 2.33 and 8.09± 2.31 years, respectively (P-value 0.440). The mean QTmax, QTcmax, QTd and QTcd in the case group were 348.80 ± 46.93, 464.94±48.71, 47.80±19.72, 68.36±24.59 ms (millisecond) respectively and 305.28 ±35.52, 395.70 ±50.05, 29.68±13.45, and 45.16±24.46 ms respectively in the control group. There was a significant difference in terms of each of the 4 parameters (P <0.001), and the value of indices in the control group was significantly less than that of the patient group.Conclusion: According to the results of the study, the QTd and QTcd values in the children with syncope attacks were higher than those in the control group. Therefore, precise ECG examination in children suspected of syncope attacks can be helpful in confirming the incidence of syncope. Additionally, the recurrence of attacks can also be predicted in children with higher QTd and QTcd values.


2019 ◽  
Vol 7 (1) ◽  
pp. 53
Author(s):  
Sarmad N. Mageed

Giardiasis is one of the most common intestinal protozoan infections worldwide. The study aimed to determine the levels of a number of biochemical parameters in the sera of children with giardiasis without receiving any medication for the treatment of giardiasis or intestinal helminthic infections in the previous 7 days. The study conducted 34 (19 females and 15 males) children and 34 (18 females and 16 males) healthy children as a control group. The mean ages of infected children and control groups were 8 ± 2 and 7 ± 2 years, respectively. Serum levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), creatinine, urea, sodium, potassium, uric acid, and albumin were determined. AST level in males was significantly higher than healthy children control (14.20 ± 1.896 and 10.06 ± 0.699), respectively (P < 0.05), and no significant difference in females was noticed whereas the significant increases in ALT level were found when compared to control (12.43 ± 0.806 and 8.666 ± 0.449), for female, respectively, whereas no significant change in males was observed. Creatinine levels showed significant decrease in females when compared to control (57.72 ± 1.170 and 73.37 ± 1.635) (P ≤ 0.001), respectively.


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