scholarly journals Р. LEU72MET MUTATION OF GHRELIN GHRL GENE IN CHILDREN WITH GASTROESOPHAGEAL REFLUX DISEASE

2017 ◽  
Vol 3 ◽  
pp. 10-17
Author(s):  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Oleg Hnateyko

Gastroesophageal disease (GERD) is the one of most spread diseases that injures an esophagus. Taking into account the large number of factors that can cause GERD development already in child age, including genetic predisposition, it is necessary to analyze each of them in detail. Aim of this work was to analyze a frequency and possible association type of р. Leu72Met mutation of GHRL gene in children with gastroesophageal reflux disease. The analysis of clinical parameters and course of disease in the group of 100 schoolchildren with GERD was carried out. The molecular-genetic study of c.214C>A locus of GHRL gene by CPR method (rs696217) was carried out in patients with GERD and 40 healthy children from the control group. In 82% of children with GERD was revealed a GHRL 214СС (Leu/Leu) homozygous genotype, at 58% among children from the control group. GHRL 214СА (Leu/ Met) genotype was registered three times more seldom in children of the studied group comparing with ones from the control group: 15,0% and 42,5%, respectively. It was established, that GHRL 214CС genotype presence conditions the increase of GERD development risk in 3,4 times. On the contrary, GHRL 214CА genotype manifests a reliable protective effect that is essentially decreased GERD development risk in a child at such genotype – 0,24 comparing with a conventional unit. There was established alleles and genotypes distribution of c.214C>A (р.Leu72Met) locus of GHRL gene in children with GERD. GHRL 214CС genotype is associated with threefold increase of GERD risk development. Gender differences as to GERD development risk at different genotypes of ghrelin gene were established. At GHRL 214СС (Leu/Leu) genotype the relative GERD risk for boys increased in more than 6 times. There were not established any differences in alleles and genotypes distribution depending on erosive or surface inflammatory changes of a gastrointestinal tract mucosa.

2019 ◽  
Vol 10 (3) ◽  
pp. 40-48
Author(s):  
T. S. Petrenko ◽  
K. Yu. Retyunskiy ◽  
M. D. Borovskikh ◽  
D. R. Devyatkina ◽  
A. V. Pereshitova ◽  
...  

Objective: to study the clinical neuropsychiatric and neuropsychological features of children suffering from systemic somatovegetative disorders.Materials and methods: the study involved children from 5 to 12 years old with an established diagnosis of bronchial asthma — 108 children; atopic dermatitis — 105 children; gastroesophageal reflux disease — 112 children; the control group consisted of 60 same age healthy children. All children underwent clinical-anamnestic, neurological, psychopathological and neuropsychological research.Results: the children with systemic somatovegetative disorders have a significantly high incidence of pathogenic factors of central nervous system damage in early stages of ontogenesis (pathology of pregnancy and childbirth). Early sensory and motor deprivation due to somatic suffering aggravates neuropsychiatric deficiency. Neuropsychological disorders were predominantly represented by a violation of the perception of their body, lack of kinesthetic and motor functions, spatial and quasi-spatial representations.Conclusion: the clinical dynamics of neuropsychiatric disorders in children with systemic somatovegetative disorders corresponds to the dynamics of residual cerebral organic impairment with a stage-age changes of syndromes. The revealed neuropsychological disorders correspond to preferential damage to the first (energy) functional block of the brain.


2014 ◽  
Vol 87 (4) ◽  
pp. 269-276
Author(s):  
Aurelia Spinei ◽  
Alina Monica Picos ◽  
Ina Romanciuc ◽  
Antonela Berar ◽  
Ana Maria Mihailescu

Background and aim. Patients with disabilities have a higher prevalence of caries and dental erosions than general population. This particularity may be assessed by the study of microcrystallization of saliva. We investigated the oral liquid microcrystallization in children with gastroesophageal reflux disease (GERD), a condition associated with dental erosions. Material and methods. 54 children have been clinically examined: 27 children suffering from GERD with ages between 13 and 15, were included in the study group, and 27 healthy children - the control group. The study of crystallographic changes of the oral liquid was performed using the method developed by Shatohina, Razumov SN, Shabalin VN (2006) with the scanning electron microscope VEGA TESCAN TS 5130 MM. Results. The degree of microcrystalization of the oral liquid in children with GERD was considerably reduced, (1.73±0.11 points) and was lower than in children in the control group (3.22±0.16 points) (p<0.01, RR=2). The degree of micro-crystallization of oral liquid in children with GERD was 1.86 times lower than in healthy children. This was correlated with the duration of gastroesophageal reflux. Conclusion. The study of structural particularities of dehydrated droplet of oral liquid in children with GERD has elucidated a number of markers of the changes produced in the oral cavity. These can be used in the screening research in prevention of caries and dental erosions. 


2017 ◽  
Vol 86 (3) ◽  
pp. 207
Author(s):  
Marta Dats-Opoka ◽  
Halyna Makukh

Introduction. Considering the steady growth of the gastroesophageal reflux disease (GERD) in children in recent decades, the difficulty of GERD diagnosing in children, the variety of GERD clinical and morphological features as well as the factors that cause it, including genetic predisposition, a detailed analysis of each of them remains relevant.Aim. To analyze the peculiarities of nutritional status in children with GERD and its correlation with the different genotypes of C825T polymorphic loci of GNB3 gene as well as its association with different GERD clinical manifestations.Material and Methods. The analysis of GERD clinical features was carried out and the nutritional status in 100 children of school age was estimated. Molecular and genetic research of C825T loci of GNB3 gene using PCR method (rs5443) was carried out in the studied group (100 children) and in 40 healthy children that formed the control group.Results. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD and healthy children in the control group did not have any statistically significant difference (χ2 = 0.27, р = 0.87). Among more than a half of the children in both groups, the GNB3 825ST heterozygous genotype were detected (54.0% of the experimental group and 57.5% of the control group), according to de Vries et al. data is a factor of GERD increased risk. The association between the genotype of C825T locus of GNB3 gene and the data of intragastric endoscopy with pH monitoring was found: in patients with hyperacidic GERD the genotype 825CT was predominantly revealed, and in children with normal and hypoacidic GERD a higher frequency of the 825TT genotype was found. In children with GERD having a lack of the nutritional status (61%), the genotype 825CT (61.82%, p = 0.013) and 825TT (100%, p = 0.005) of the GNB3 gene were detected significantly more often.Conclusions. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD was determined. Differences in GERD development depending on the different GNB3 genotypes were not detected. The distribution of the genotypes of C825T loci of the GNB3 gene remained unchanged at different GERD clinical manifestations. The presence of 825CT and 825TT genotypes of GNB3 gene in patients with GERD is associated with a decrease in physical development signs. The association between genotype of C825T loci of GNB3 gene and pH intragastric endoscopy data was identified: in patients with hyperacidity GERD 825CC genotype was usually found, and in children with normal- and hypoacidity GERD 825TT genotype was usually found.


2020 ◽  
Vol 10 (12) ◽  
pp. 4368
Author(s):  
Gabriela Ghiga ◽  
Nicoleta Gimiga ◽  
Daniel Vasile Timofte ◽  
Oana Maria Rosu ◽  
Vladimir Poroch ◽  
...  

Gastroesophageal reflux disease (GERD) is a common digestive condition, representing one of the most frequent reasons for medical examination, especially in pediatric gastroenterology departments. GERD could be associated with biochemical alterations representing either its systemic manifestations or markers of complications. The aim of our paper was to evaluate biochemical parameters secondary to GERD in children. Two hundred and sixty-seven children of both genders aged between 1 month and 18 years who displayed suggestive symptoms for this condition were included in the study and were monitored for a period of 5 years. Depending on the range of symptoms and technical possibilities, the following procedures/investigations were performed: esophageal pH monitoring and imagistic or endoscopic examination, besides specific biochemical investigations. The cohort was sub-divided into two groups: one that included 213 children with confirmed GERD who represented the study group and 54 healthy children where GERD had been excluded, the control group. Out of all the investigated children, 39.0% displayed low hemoglobin values, 43.7% displayed low values of erythrocyte indices (MCH), and 68.5% had increased erythrocyte sedimentation rate (ESR) values, while increased eosinophil levels were recorded in 46.9% of the cases. Such parameters were proven to be a biomarker of suspected eosinophilic esophagitis, whereas 32.9% of the cases displayed high blood glucose values that could be correlated with gastroesophageal reflux symptoms. Other measured parameters (such as magnesium, aminotransferases and proteins) remained within the normal limits, without statistically significant differences compared to in the control group. This condition is diagnosed based on invasive investigations, which are often difficult to accept by the patients’ parents. The biochemical modifications correlated to the clinical manifestations can anticipate the progression of the disease, thus limiting the necessity of performing invasive diagnosis tests.


2020 ◽  
Vol 92 (8) ◽  
pp. 66-72
Author(s):  
V. S. Kropochev ◽  
S. V. Morozov ◽  
M. A. Lantseva ◽  
A. N. Sasunova ◽  
V. I. Pilipenko ◽  
...  

Aim. To evaluate nutritional patterns in patients with gastroesophageal reflux disease (GERD) compared to the control group without GERD. Materials and methods. The data of complex examination of patients referred to perform esophageal pH-impedance recording and who gave written informed consent to participate in the study served as a source data. All the participants underwent complex examination, including clinical data (presence of heartburn and acid regurgitation), symptom evaluation (GERD-Q questionnaire), esophagogastroscopy, esophageal pH-impedance recordings and food frequency questionnaire. Diagnosis of GERD was based on GERD-Q score 8, acid exposure time 6%, number of gastroesophageal refluxes 80/day by 24-hrs esophageal pH-impedance recordings. Nutritional patterns were assessed with the use of healthy eating pyramid principles. Results. Overall 165 patients were enrolled and the data of 150 of them (34 with confirmed GERD and 116 of the control group) were available for the final analysis. The patients of the both groups consumed lower compared to the recommended amounts of dairy and higher amounts of meat. Those with GERD consumed larger amounts of fruits (0.910.68 compared to the values of healthy eating pyramid vs 0.520.57 in the control group, p=0.001), and fats (0.690.55 vs 0.490.55, p=0.001). Compared to the controls, patients with GERD consumed lower amounts of vegetables (0.860.46 of the healthy eating pyramid vs 0.940.63 in the control group, р=0.004) and sugars confectionaries (0.380.39 vs 1.930.98, p=0.0001). Conclusion. Nutritional patterns of patients with gastroesophageal reflux disease significantly differ compared to the control group. The obtained data may be used for diet modification in patients with arterial hypertension.


2020 ◽  
Vol 3 (1) ◽  
pp. 11-16
Author(s):  
Iryna Romash

Introduction. It has been scientifically confirmed that the risk of developing gastroesophageal reflux disease (GERD) increases especially with generalized or regional disruption of connective tissue structure, which is widespread among the population. Patients with such comorbid pathology may have a wide range of symptoms that may go beyond the general symptoms of heartburn and regurgitation. The symptoms and complications of GERD affect general health, daily and social functioning, physical and emotional activity. It also affects the quality of life (QoL) associated with health through frequent breaks during sleep, work and social activities. Purpose. study the dynamics of the level of quality of life and social functioning in patients with gastroesophageal reflux disease in combination with the syndrome of undifferentiated connective tissue dysplasia. Methodology. A total of 120 patients were included in the study: 65 men and 55 women: in 75 of them (Group II) GERD occurred on the background of UCTD, in 45 (Group I) as an independent disease. The control group consisted of 12 healthy individuals. The study was comprehensive. The Medical Outcomes Study 36-Item Short-Form Health Status (SF-36),the Gastrointestinal Symptom Rating Scale (GSRS) and the scale of "Personal and social performance" (PSP) -  were used to study patients in detail. Results and Discussion. Analyzing the results obtained on the basis of the GSRS questionnaire (Table 1), in patients with GERD on the background of UCTD, compared with patients of group I and the control group, there is a significant increase in three and four from the five scales. QoL in patients of Group II on the scale "Abdominal pain" were 14.3 ± 0.4 points, in Group I - 5.6 ± 1.3 points, in the Control Group - 2.4 ± 0.8 points, on the scale "Reflux syndrome": 13.7 ± 0.9, 10.5 ± 1.3 and 3.1 ± 0.9, respectively. "Dyspeptic syndrome" - 15.3 ± 0.4 points in Group II, 12.2 ± 0.6- in Group I and 6.1 ± 0.3- in the control group. "Constipation syndrome" 9.5 ± 0.8, 5.6 ± 1.03 and 5.7 ± 0.4, respectively (p <0,05). Conclusions: In this research we investigated the effect of comorbid pathology on QoL in patients with GERD, which developed against the background of UCTD. The results confirm that patients with such combined pathology have a lower level of quality of life and social functioning, and the tactics of treatment of such patients should take into account these changes


2020 ◽  
pp. 014556132093121
Author(s):  
Suying Yan ◽  
Yongxiang Wei ◽  
Xiaojun Zhan ◽  
Linyin Yao ◽  
Xiping Li ◽  
...  

Objectives: To explore the effect of gastroesophageal reflux disease (GERD) on Eustachian tube function in patients with obstructive sleep apnea (OSA). Methods: This was a cross-sectional study. The patients were divided into 4 groups according to OSA and GERD: OSA+GERD group; OSA-only group; GERD-only group; and normal control group. Results: There were no differences among the 4 groups regarding age, sex, smoking history, and alcohol history (all P > .05). The patients in the OSA and OSA+GERD groups had a significantly larger body mass index than those in the control and GERD-only groups (all P < .05). The proportions of patients with abnormal ETS-7 and ETD-Q results were higher in the GERD and OSA+GERD groups compared to the control group ( P < .008). There were no significant differences in ETS-7 and ETD-Q between the control and the OSA-only groups ( P > .008). The multivariable analysis showed that only GERD was independently associated with abnormal ETS-7 results (odds ratio = 3.090, 95% CI: 1.332-7.169, P = .009). Conclusion: Given the high concomitance rate in patients with OSA, GERD might be an important association factor of Eustachian tube dysfunction in patients with OSA.


Nutrients ◽  
2020 ◽  
Vol 12 (6) ◽  
pp. 1813
Author(s):  
Jeffrey M. Beckett ◽  
Neeraj K. Singh ◽  
Jehan Phillips ◽  
Krishnakumar Kalpurath ◽  
Kent Taylor ◽  
...  

Gastroesophageal reflux disease (GERD) affects approximately 20% of Australians. Patients suffer a burning sensation known as heartburn due to the movement of acidic stomach content into the esophagus. There is anecdotal evidence of the effectiveness of prebiotic sugarcane flour in controlling symptoms of GERD. This pilot study aimed to investigate the effectiveness of a prebiotic sugarcane flour in alleviating symptoms in medically-diagnosed GERD patients. This pilot study was a single center, double-blinded, placebo-controlled randomized trial conducted on 43 eligible participants. The intervention group (n = 22) were randomized to receive 3 g of sugarcane flour per day, and the control group (n = 21) received 3 g of cellulose placebo per day. Symptoms of gastroesophageal reflux disease were assessed before and after three weeks treatment using the validated Gastroesophageal Reflux Disease-Health Related Quality of Life questionnaire (GERD-HRQL). After three weeks there were significant differences in symptoms for heartburn, regurgitation, and total symptoms scores (p < 0.05) between the sugarcane flour and placebo. Mean GERD-HRQL scores increased in the placebo group for regurgitation (mean increase 1.7; 95% CI 0.23 to 3.2; p = 0.015) and total symptom scores (2.9; 95% CI 0.26 to 5.7; p = 0.033). In contrast, there were significant reductions in heartburn (mean decrease −2.2; 95% CI −4.2 to −0.14; p = 0.037) and total symptom scores (−3.7; 95% CI −7.2 to −0.11; p = 0.044) in the intervention group. This pilot study has shown significant positive effects of sugarcane flour in the reduction of GERD symptoms, and a larger randomized controlled trial is warranted.


2020 ◽  
Vol 22 (7) ◽  
Author(s):  
Mehdi Ahmadi ◽  
Mohsen Amiri ◽  
Tahere Rezaeian ◽  
Amir Mansour Rezadoost ◽  
Enayatollah Bakhshi ◽  
...  

Background: Gastroesophageal reflux disease (GERD) is one of the most common gastrointestinal disorders that can disturb patients’ respiratory indices. Proton pump inhibitors (PPIs) such as omeprazole are currently the most common treatment in the patients. PPI-refractory GERD is a clinical problem constituting around 30% of patients with GERD. Objectives: The aim of this study was to investigate the effects of diaphragmatic breathing (DB) and omeprazole on respiratory indices (RI) and diaphragmatic excursion (DEX) in patients with GERD. Methods: This is a clinical trial conducted for eight weeks among 40 patients with severe GERD in Tehran in 2018. The block randomization method was designed to randomize 40 patients into two groups (DB and control) that resulted in equal sample sizes. The control group received omeprazole 20 mg once daily, and the DB group, in addition to omeprazole, performed DB. Respiratory indices, including (Forced Vital Capacity (FVC), Forced Expiratory Volume in 1 second (FEV1), Peak Expiratory Flow (PEF)), and DEX were evaluated before, immediately, and six weeks after the end of intervention by spirometry and ultrasonography; respectively. Results: There was no significant difference in the RI and DEX before the intervention between groups. FVC (P = 0.04) and PEF (P = 0.02) significantly changed in the control group, but FEV1 (P = 0.001), FVC (P = 0.002), PEF (P = 0.001) and DEX (0.001) significantly changed after DB. There was a significant difference in terms of RI between before and followed up in DB. Conclusions: Diaphragmatic breathing with omeprazole had more effects on RI and DEX than omeprazole alone. The positive effects of DB remain at least six weeks after the end of the intervention.


2020 ◽  
Author(s):  
Monica Zavala-Solares ◽  
Gabriela Fonseca-Camarillo ◽  
Miguel Valdovinos ◽  
Julio Granados ◽  
Guido Grajales-Figueroa ◽  
...  

Abstract Background: Patients clinical endoscopic phenotypes in gastroesophageal reflux disease (GERD) are classified as: Barrett's esophagus (BE), erosive esophagitis (EE) and non-erosive gastroesophageal reflux disease (NERD). NERD are subclassified in Abnormal acid exposure (AAE) and Normal acid exposure (NAE) according to pH monitoring study. The aim of this study was to characterize genes involved in the pathophysiology and immune response of GERD.Methods: This is an observational and cross-sectional study. All patients with BE, EE, AAE, NAE and control group were subjected to a superior endoscopy (with biopsies of esophageal mucosa). The cytokine mRNA relative quantification of target genes was conducted by RT-PCR. Changes in gene expression were assessed of the genes associated with inflammation in each disease phenotype. Statistical analysis of differential gene expression was performed by using Dunn's Multiple Comparison non-parametric test. A p value < 0.05 was considered as significant. Results: A total of 82 patients were included and they were divided into the following groups: Group BE 16 (19.51%), Group EE 23 (28.04%), Group AAE 13 (15.86%), NAE (15.86%) and Control Group 17 (20.73%). When comparing with control group we found: patients with BE showed an increased expression of IL-8 (P<0.005) and higher levels of: IL-10 and MMP-3, MMP-9 as well; patients with EE had higher levels of IL-1B, IL-6 and IL-10 (P<0.005), patients with AAE showed an increased expression of Il-1B, Il-6, IFN-γ and TNF-α (P<0.005). AAE had a higher expression of Il-1B and TNF-α than NAE (P<0.005). Conclusions: This study demonstrates the differential expression of mediators of inflammation in the esophageal mucosa of patients in GERD endoscopic phenotypes. MMP3 could be implicated in damage to esophageal mucosa. IL-1B and TNF-α could be a differential diagnosis between AAE and NAE in the non-erosive phenotype from endoscopic biopsies.


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