Preview

Experimental and Clinical Gastroenterology

Advanced search
No 6 (2023)

LEADING ARTICLE

5-13 1045
Abstract

The aim of the study was to investigate the intestinal microbiome in children with autism spectrum disorders (ASD). The study was observational, cohort, comparative. All the patients included in it were divided into 2 groups. The first (comparison group main) group (n=43) consisted of children preschool aged of 1 and 2 health groups; the second (n=38, main group) children with an established diagnosis of ASD. It was stated that children with ASD are characterized by the most frequent (p=0.001) detection of intestinal dysbiosis; the detection of significant disorders in the form of intestinal dysbiosis of 3-4 degrees (p=0.001); a significant decrease in the total bacterial mass of the intestinal microbiota (γ=0.29, p=0.006); a decrease in the representation of the main representatives of the philometabolic nucleus of the microbiota: Lactobacillus (p<0.05); Bifidobacterium (p<0.05); Bacteroides (p<0.05) and a number of individual producers of polyunsaturated fatty acids (0.001<p≤0.050). A negative relationship was found between the integral indicator of autism severity and the representation of typical E.coli (R=0.57; F=4.17; p<0.045). In that way Autism spectrum disorders in preschool children are associated with changes in intestinal biocenosis. The structure of microbiome differed significantly from that typical for healthy children. There is a relationship between the severity of dysbiotic disorders and the severity of cognitive disorders in absent-minded.

14-21 435
Abstract
Purpose: to evaluate the effectiveness of eradication therapy for Hp infection in Perm and the Perm region. Materials and methods: a retrospective analysis of 88 case histories of patients who underwent eradication of Hp infection was carried out at the Perm Medical Center (GASTROCENTER). Primary infection with H. pylori was confirmed by: serological blood test or determination of Hp antigen in feces, rapid urease test, and C13 urease breath test. Hp eradication therapy regimens, depending on the source of prescription, included standard triple therapy with the addition of bismuth preparations for a period of 14 days (main group) or 7-10-day triple therapy (control group). Results and discussion: the main indications for Hp eradication were: chronic gastritis and gastroesophageal reflux disease. In the main group, all patients received Hp eradication therapy with the inclusion of: esomeprazole (emanera) 40 mg, amoxicillin 1000 mg, clarithromycin (fromilid) 50 mg and bismuth tripotassium dicitrate (ulcavis) 240 mg twice a day for 14 days. The control group included patients who received Hp eradication schemes with various proton pump inhibitors, amoxicillin and clarithromycin or metronidazole or levofloxacin or even rifaximin for 7 or 10 days. Adverse events: abdominal pain and diarrhea occurred in both groups. Patients of the main group complained about bitterness in the mouth, where all patients received clarithromycin. Approximately the same small number of patients complained of nausea. With a differentiated assessment by groups, in the main group, Hp eradication was highly effective and reached 93%, while in the control group it was significantly lower and did not exceed 48% (p=0,00087) Conclusions: modern detection of Hp infection and its eradication is an effective approach to the prevention of atrophic gastritis, gastric cancer and peptic ulcer of the stomach and duodenum. The “gold” standard for diagnosing Hp infection is the 13C-urease breath test. For residents of Perm and the Perm Territory, it is recommended to use Hp eradication with the appointment of a 14-day regimen with the inclusion of esomeprazole (Emaner), clarithromycin (Fromilide), amoxicillin and bismuth tripotassium dicitrate (Ulkavis) as the first line of therapy.

CLINICAL GASTROENTEROLOGY

22-31 261
Abstract
The aim of the study was to describe the socio-demographic characteristics, features of the course and treatment of patients with ulcerative colitis. From March 2019 to March 2021, information was collected and systematized on patients over 18 years old in the Nizhny Novgorod region suffering from IBD. The registry included and analyzed 150 unique records of patients with ulcerative colitis. According to the analysis, the number of men and women with ulcerative colitis is comparable: men - 47.3% and 52.7%. The median age of all patients was 43.0 [19.0-83.0] years. Determination of a subjective assessment of the time of onset of the first symptoms found that the median age is 37.0 [14.7-83.2] years. The median duration of the disease at the time of inclusion in the study was 26.1 [3.4; 104.5] month. During the first year, it is possible to detect pathology in 85.3% of cases: for a period of less than 3 months in 63.3% of patients, within 3 to 6 months in 16.0%, in the period from 6- up to 12 months in 6.0%. Among the examined patients, the prevalence of total colitis was established - 54.6%; in second place - the leftside colitis - 34.0%, the least common was proctitis - 11.3%. According to our data, the “average patient” will be a woman or a man of average working age who seeks medical help in a timely manner, which allows a diagnosis to be made within the first 3 months from the onset of the first symptoms; however, despite such an optimistic start, in the vast majority of cases there is a total colitis and there is no adequate control over the disease - high activity of the disease (moderate attack) and a chronic recurrent course remain, which in turn leads to the appointment of repeated courses of corticosteroids and only in a quarter of cases, therapy is changed to genetically engineered biological agents.
32-38 187
Abstract
Objective: To characterize the main indicators of oncological care for patients with colon cancer in the Perm region. Materials and methods: the calculation of the main indicators of oncological statistics of all cases of colon cancer (C18), as well as rectum and rectosigmoid junction (C19-21), included in the database “Information on patients with malignant neoplasms” in the Perm region. Results. Over the past 10 years, there has been a positive trend in the Perm Territory in terms of early detection of colorectal cancer. Against the background of the growing incidence as such, which corresponds to the all-Russian trends, there is no increase in mortality from the disease. Almost all patients now, in comparison with the initial period of statistical analysis, are undergoing morphological verification of malignant neoplasms and the selection of appropriate treatment. Conclusion. In the Perm Territory, for 10 years, there has been a trend towards optimizing oncological care for patients with colorectal cancer, the indicators are comparable to the all-Russian indicators.
39-46 350
Abstract
Objective: To study the literature on role of B-lymphocytes and plasma cells in the pathogenesis of Crohn’s disease (CD) and ulcerative colitis (UC). Materials and methods: We analyzed 86 literature sources from the Scopus, Web of Science, Google scholar, PubMed databases, as well as those that are freely available on Google. Results. CD and UC are a serious public health problem due to their wide prevalence, objective difficulties in treatment due to the complexity of pathogenesis and the ongoing search for effective drugs. To date, the most successful methods of pathogenetic therapy are anticytokines and the use of drugs aimed at suppressing the T-cell response. Conclusion. It is shown that when using existing methods of treatment in some patients, they are not effective. The study of B-lymphocytes and plasma cells of the lamina propria of the intestinal mucosa as a possible therapeutic target in the treatment of UC and CD is relevant.
47-52 289
Abstract
Introduction. Chronic liver diseases are a significant medical problem all over the world. To date, there is a need to develop a set of laboratory tests, including genetic ones, to determine the risk of development and progression of steatosis, fibrosis and cirrhosis of the liver of various etiologies. Aim: To investigate the serum concentration of vasculoendothelial growth factor (VEGF) and the frequency of occurrence of VEGFA gene polymorphism genotypes in the region -634G/C (rs2010963) in patients with steatosis, fibrosis and cirrhosis of the liver in the Perm Region. Materials and methods: 258 people were examined, including 52 patients with non-alcoholic liver steatosis, 95 patients with chronic hepatitis C and liver fibrosis, 46 people with cirrhosis of the liver of viral (HCV) and alcoholic etiology and 65 practically healthy individuals. The serum concentration of VEGF was determined by enzyme immunoassay. Polymorphisms of the VEGFA gene in region -634G/C were analyzed by polymerase chain reaction. Result: The development of steatosis, fibrosis and cirrhosis of the liver is accompanied by endothelial damage with activation of neoangiogenesis due to hyperproduction of VEGF (p=0.001, p=0.0001 and p=0.001, respectively) in the blood serum. Elevated serum VEGF values in patients confirmed the presence of endothelial dysfunction in liver pathology. The study of the single nucleotide polymorphism of the VEGFA gene (G634C) showed a higher incidence of recessive allele C in patients with steatosis and cirrhosis in 54.81% (p=0.01) and 48.9% (p=0.04) of cases than in the control group -37.69%, which suggested the presence of an association of the carrier of allele C of this polymorphism in the form of genotypes CC or GC with a risk of developing steatosis and cirrhosis of the liver. Conclusion. Determination of the genetic marker VEGFA in the region -634G/C allows us to assess the increased risk of developing chronic liver diseases when exposed to various etiological factors.
53-60 249
Abstract
The aim. To study risk factors, clinical features, anthropometric, biochemical and metabolic parameters, parameters of the functional state of the endothelium, the level of interleukin-6 (IL-6) and markers of hemostasis in patients with non-alcoholic liver steatosis in the early postmenopausal period living in Perm. Materials and methods. 100 women in the early postmenopausal period were examined: 70 patients with the clinical form non-alcoholic liver steatosis and overweight or obesity of varying severity (49.9±1.1 years) and 30 practically healthy women without obesity and liver pathology (47.3±2.6 years). Biochemical parameters, lipid spectrum, insulin, leptin, leptin receptors, interleukin-6 (IL-6), markers of endothelial dysfunction, hemostasis parameters were determined in the blood of all subjects, body mass index (BMI), free leptin index, NOMA-IR and Caro were calculated. Liver steatosis was determined by ultrasound examination. Results. General weakness (35%), severity (35%) and pain (15%) in the right hypochondrium (35%), dyspepsia - belching (25%), nausea (15%), heartburn (10%), flatulence (10%). Hypertension was observed in 60% of women, type 2 diabetes mellitus - in 24%. All patients had a genoid type of obesity. 34% of women with non-alcoholic liver steatosis were overweight, 29% were obese of the 1st degree, 23% were obese of the 2nd degree, and 14% of patients were obese of the 3rd degree. Conclusion: In the examined women with non-alcoholic liver steatosis in the early postmenopausal period living in Perm, risk factors for the development of obesity were identified: consumption of high-calorie foods with high fat and sugar content and hypokinesia, and the course of the disease was accompanied by the development of dyslipidemia, insulin and leptin resistance, inflammatory syndrome with activation of proinflammatory cytokine IL-6 and hyperfibrinogenemia, and also endothelial dysfunction, the severity of which increased during the transition from 1 to 2-3 degrees of obesity.
61-71 225
Abstract
Purpose of the study. The prevalence of diseases of the gastroduodenal zone and cardiovascular pathology among the working population is alarming. In order to develop phenotypes of comorbidity of acid-dependent diseases of the gastroduodenal zone and the syndrome of arterial hypertension in hazardous workers, a study of the state of health was carried out. Materials and methods. 4 observation groups were formed, aged 40 to 60 years, with work experience of more than 10 years. The first group consisted of 51 patients with arterial hypertension, the second - 26 patients with acid-dependent diseases, the third - 25 workers with comorbid pathology. The fourth group consisted of 24 workers without this pathology. The clinical examination was carried out as part of clinical examinations in the conditions of the departmental clinical hospital of Russian Railways. To clarify the psycho-emotional status, psychometric testing was carried out using the Stilberger-Khanin anxiety scale and the SANT test. A biochemical blood test included the determination of the level of alanine aminotransferase, aspartate aminotransferase, glucose, creatinine, lipid spectrum, antibody titer to Helycobacter pylori, the amount of endothelin-1, monocytic chemoattractant protein-1. Instrumental studies: fibrogastroduodenoscopy, daily monitoring of blood pressure. Results and conclusions. Indicators of general morbidity among employees of locomotive crews are higher than those of the industry. In the structure of chronic diseases, the prevalence of isolated arterial hypertension and erosive and ulcerative lesions of the gastroduodenal zone exceeds 60%, and the calculated probability coefficient of the combination is 6 times higher than the population one. The development of comorbidity of arterial hypertension and erosive and ulcerative lesions of the gastroduodenal zone under conditions of long-term exposure to a complex of production factors in trained workers was accompanied by the prevalence of personal and situational anxiety as a reflection of the maladjustment syndrome. The main pathophysiological determining modules in each group of patients were identified: the dyscirculatory-inflammatory module was identified as a phenotype of the comorbidity of the studied pathologies. The data obtained allow us to form a personalized approach to the prevention and treatment of comorbid pathology.

SURGICAL GASTROENTEROLOGY

72-78 622
Abstract
The aim is to evaluate the long-term results of splenorenal anastomosis (SRA) in the treatment of portal hypertension a year or more after surgery. Materials and methods. The long-term results of the imposition of CPA after one to ten years have been studied. Life expectancy, the number of bleeding recurrences, and the severity of thrombocytopenia were assessed based on the results of fibrogastroscopy, duplex scanning (DS), and computed tomography with bolus enhancement. Results. One-year survival rate was 96.77%, three-year - 87.09%, five-year - 74.19%, ten-year - 22.58%. Within three years after bypass surgery, no recurrence of bleeding was observed, while in half of the patients (54.28%) the varicose veins of the esophagus disappeared, in the rest (45.72%) they decreased to grade I. Recurrence of bleeding occurred in six patients (17.14%) after 5-13 years, in one case massive, which was accompanied by shunt thrombosis (2.85%) according to the results of DS. For the rest, its function was preserved. The median platelet count one year and three after CP did not differ and was 110 x109 and 105 x109. It was found that the larger the diameter of the portal vein and the lower the volume velocity of blood flow in it, the smaller was the increase in platelets in the long-term period (r=0.90, p=0.037; r=0.87, p=0.01). Conclusions. After performing splenorenal bypass surgery for portal hypertension for the purpose of primary and secondary prevention of gastric bleeding, its recurrence occurred in 17.14% 5-13 years after surgery. After the correction of portal hypertension, there was a tendency to increase the number of platelets in the long-term postoperative period, which was dependent on the volume velocity of blood flow in the portal vein and the degree of its expansion before surgical treatment.
79-83 266
Abstract
The aim of the study - to improve the results of simultaneous surgical treatment of patients with large ventral hernias and incisional hernias W3 and concomitant surgical pathology of the abdominal organs. Material and methods. The article analyzes the results of surgical treatment of 450 patients with primary and postoperative hernias of the abdominal wall. 95 (21.1%) patients were urgently operated on. In 76 (16.9%) patients with large ventral and incisional W3 hernias, posterior separation hernioplasty was performed using TAP technology. In the presence of concomitant surgical pathology of the abdominal organs, simultaneous surgical interventions were performed. Results. In sublay and IPOM groups, 14 (3.7%) patients underwent laparoscopic sleeve resection of the stomach, 16 (4.3%) patients - laparoscopic cholecystectomy, and 4 (1.1%) patients -TAPP hernioplasty. In TAR group, 9 (11.8%) patients underwent open cholecystectomy, 12 (15.8%) - transverse abdominoplasty, 3 (3.9%) - open sleeve resection of the stomach, 2 (2.6%) - closure of the colostomy. The average duration of pain in the postoperative period was 4.5±0.9 days. The average duration of hospitalization was 9.7±1.1 days. In the postoperative period, 2 patients developed surgical site infection. There was no mortality. Conclusions. Modern simultaneous interventions in surgical gastroenterology and herniology with risk stratification of specific and nonspecific complications are an actuale social, medical and economic problem. An individual and differentiated approach to choice of simultaneous surgical intervention method taking into surgical and anesthetic risks and patients comorbidity, can reduce the percentage of postoperative complications and improve patient’s life quality.
84-88 520
Abstract
Acute esophageal variceal bleeding (AEVB) is a serious complication of liver cirrhosis and is leading cause in hepatic failure and death. Endoscopic variceal ligation (EVL) is the mainstream treatment mode for management of esophageal varices. The aim of the study was to investigate survival rate in urgent - elective (secondary AEVB prophylaxis) and elective (primary AEVB prophylaxis) groups. This article intends to investigate regimens and long-term outcomes of primary or secondary prophylaxis of AEVB in 161 cirrhotic patients. A new risk factor for cirrhosis decompensation stratification is proposed. It is based on a number of necessary EVL bands to achieve sustained (at least 12 months) varix elimination. This study showed that survival rate was strongly inversely dependent on this newly proposed varix elimination index.
89-99 629
Abstract
In abdominal surgery, after operations on the abdominal cavity, it is possible to develop disturbances in the normal coordinated propulsive motility of the gastrointestinal tract. This episode of gastrointestinal hypomotility or the state of dynamic ileus is referred to as postoperative ileus (POI) or postoperative gastrointestinal tract paresis. The incidence of POI in the clinic of abdominal surgery ranges from 10 to 30%. Chewing gum has been used in surgery to relieve postoperative intestinal obstruction since the early 21st century. The present review considers the main randomized clinical trials, reviews and meta-analyses on the study of the effect of chewing gum in abdominal surgery for the prevention of postoperative ileus. The data presented in the review indicate the effectiveness and safety of the use of chewing gum in the postoperative period for the prevention of POI in abdominal surgery and surgical interventions in related areas.

REVIEW

100-104 304
Abstract
Parkinson’s disease (PD) is a steadily progressive neurodegenerative disease of the nervous system, which combines “motor” (motor) and “non-motor” manifestations in the clinical picture. In recent years, much attention has been paid to the “non-motor” symptoms of PD, an important place among which is occupied by vegetative ones. The review pays special attention to gastrointestinal disorders, such as constipation, irritable bowel syndrome, as well as the role of the intestinal microbiota in the development of Parkinson’s disease.
105-112 402
Abstract
This review consolidates the data of recent Russian and foreign research works, considering how gut microbiota composition and gut metabolites can affect metabolic disorders. From the standpoint of modern concepts, the authors discuss the functions of the immune system responsible for maintaining relationships with symbiotic microorganisms, analyze the accumulated information on the participation of metabolites of gut microflora in the development of pathological conditions. According to the results of the last two decades achieved, challenges ahead include translation of findings and mechanisms into clinical practice and development of therapeutic options and regimens that target metabolic risks by modulation of gut microbes and metabolites.
113-120 426
Abstract
The article is devoted to the difficulties of differential diagnosis of irritable bowel syndrome (IBS) and gluten-associated diseases. A clinical example illustrating the features of the diagnosis of these conditions is given
121-129 312
Abstract
Non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (DM2) often coexist and share common pathogenic mechanisms& Being components of the metabolic syndrome, these pathologic conditions exacerbate each other’s course, increase the risk of adverse cardiovascular outcomes in comorbid patients. The main focus in the treatment of patients with DM2 and NAFLD is aimed at reducing insulin resistance and slowing down the transition of steatosis and/or steatohepatitis into a more progressive stage. For this aim, a number of hypoglycemic drugs are used in diabetology, which have demonstrated their beneficial effects on the NAFLD. This article presents the results of clinical and experimental studies on the use of the following groups of drugs in patients with NAFLD: biguanides, glucagon-like peptide-1 agonists, type 4 dipeptidylpeptidase inhibitors, thiazolidindiones and type 2 glucoze-sodium transporter inhibitors. The most promising in the treatment of patients with type 2 diabetes and NAFLD are pioglitazone, liraglutide and dapagliflozin.
130-139 702
Abstract
The review presents current data on the relationship and mutual influence of gastroesophageal reflux disease, gastroduodenal ulcer, liver disease, inflammatory bowel disease and coronary heart disease. Universal and disease-specific risk factors, comorbidity mechanisms, including those associated with basic therapy, were analyzed. The review is based on the results of meta-analyses, population-based studies and may be an addition to current clinical guidelines on comorbid pathology.
140-145 365
Abstract
The results of studies of the level of biomarkers of oxidative stress and the antioxidant system in children with Crohn’s disease and ulcerative colitis are presented. The relationship between nosology and the feature of redox imbalance was demonstrated, which was proved by a significant difference in the level of reduced glutathione in erythrocytes between groups of subjects. Children with Crohn’s disease have a lower level of reduced erythrocyte glutathione compared to patients with ulcerative colitis. This pattern can be explained by different types of inflammation in these diseases. Crohn’s disease has a productive granulomatous chronic inflammation, in which one of the mechanisms of development and flow is incomplete phagocytosis. Oxidative stress and deficiency of glutathione, which is part of the antioxidant system, make a large contribution to the defect in phagocytosis, and the persistence of oxidative imbalance will lead to an increase in inflammation activity due to the preservation of immune dysregulation. The study presents a variant of using binary logistic regression to search for a model of a method for the differential diagnosis of inflammatory bowel diseases, where the independent variable is the content of reduced erythrocyte glutathione.

EXPERIMENTAL GASTROENTEROLOGY

146-152 276
Abstract
The aim of the research was a comparative analysis of the effect of electromagnetic radiation and acute alcohol intoxication on the parameters of mineral metabolism and antioxidant protection in erythrocytes and blood plasma of rats. Materials and methods. The research was performed on 128 white non-linear rats. The study was conducted on five experimental models: acute ethanol poisoning, acute ethanol poisoning against the background of preliminary alcoholization, exposure to electromagnetic radiation for 1, 2 and 3 months. Spectrophotometrically determined the content of iron, copper, transferrin, ceruloplasmin and the activity of gamma-glutamyl transpeptidase in the blood plasma of rats, the content of glutathione in blood erythrocytes. Results and discussion. A unidirectional nature of changes in the indicators of antioxidant protection and mineral metabolism in acute alcohol intoxication and electromagnetic irradiation was established, which consists in a decrease in the content of iron, transferrin, an increase in the content of ceruloplasmin, glutathione, and gamma-glutamyl transpeptidase activity. At the same time, a decrease in the iron content and a change in the parameters of antioxidant protection in the blood plasma are more pronounced in acute ethanol poisoning than in electromagnetic irradiation. Conclusions. Ceruloplasmin, transferrin, glutathione and gamma-glutamyl transpeptidase are targets for the action of electromagnetic radiation and ethanol. Determination of the activity of gamma-glutamyl transpeptidase in blood plasma has a prognostic value for determining the degree of liver damage not only with alcohol intoxication, but also with electromagnetic irradiation of the decimeter range.
153-156 219
Abstract
Biliary intraepithelial neoplasia (BilIN) according to modern data is considered as an obligate precancer of the bile ducts. As BILIN progresses, cholangiocarcinoma often develops, characterized by a low five-year survival rate. The aim of this work is to describe the morphological characteristics of BilIN in the epithelium of nonparasitic liver cysts. The material is described after primary and repeated (15) surgical interventions in 99 patients. The morphological manifestations of intraepithelial neoplasia in non-parasitic dysontogenetic liver cysts were studied, their role in the development of liver cholangiocarcinoma was established.
157-164 276
Abstract
Introduction. Despite the numerous studies carried out to improve the technique for abdominal operations using new suture materials, stitching technologies and various types of intestinal sutures, the failure of intestinal anastomoses sutures remains a serious surgical problem in both adult and pediatric practice. The purpose of our study is a comparative analysis of the healing of the interintestinal fistula using various types of sutures in an experiment on animals (newborn rabbits). Materials and methods. The experiment was performed on 15 newborn rabbits with reproduction of a model of intestinal obstruction at the level of the ileum and the imposition of end-to-end small-intestinal anastomoses and de Lorimier-Harrison plication with interrupted and continuous sutures. 3 groups were formed: the imposition of a plication anastomosis using a single-row continuous suture (group I (n = 5)), an end-to-end anastomosis using a single-row continuous suture (group II (n = 5)), group III (n = 5) - end-to-end anastomosis with a single-row interrupted suture. With the help of modern morphological research methods, the degree of the infiltrative-destructive process in the peri-anastomosed areas has been studied. Results. It was found that when using all types of sutures in the areas surrounding the anastomosis (with an implicit advantage of a continuous suture), similar morphological changes were observed, indicating the remodeling of the mucous membrane (RM), low regenerative potential of the small intestine. Deeper degenerative changes in the small intestine SO were observed during the correction of intestinal obstruction using an interrupted suture. Conclusion. The use of a continuous suture (in some cases (3 out of 5) has some advantage over the interrupted suture in the form of a relative preservation of the proliferative compartment zone with the presence of highly specialized cells. Counting Paneth cells, as an indicator of the regenerative capabilities of the small intestine CO, is a promising and objective method for assessing the quality small bowel anastomosis.

CLINICAL CASES

165-169 257
Abstract
A patient with paroxysmal atrial fibrillation has been taking amiodarone for 20 years with short breaks in order to maintain sinus rhythm or restore it. His disease was complicated by iatrogenic, drug-induced complications in the liver, peripheral and central nervous system, speech motility, thyroid gland, and skin. Cancellation of amiodarone contributed to the relief of organ complications of taking this drug after 3-6-9 months.
170-175 694
Abstract
Introduction. Hereditary metabolic diseases include a large group of diseases caused by genetic mutations with a high potential risk of transmitting this disorder to future offspring. Manifesting at any age and accompanied by recurrent and progressive clinical symptoms, some of these mutations become incompatible with life, while most lead to gross violations of the normal physiological process of child development. The paper presents a clinical case of hereditary urea synthesis disorder caused by deficiency of ornithine transcarbamylase of mitochondrial matrix in liver (hyperammonemia type 2) as a result of mutation of the OTC gene (MIM 300461). The disease recessive, linked with the X-chromosome and is associated with a high risk of mortality due to accumulation of toxic concentrations of ammonia. Materials and methods. The boy E., born in 2015. Introduction of protein-based complimentary foods and increase in its portion volume is associated with decrease in appetite, regurgitation, nausea, vomiting, flatulence, dyspepsia appear, and sharp weakness progresses. There is a significant increase in the blood concentration of intracellular liver enzymes. Physical development is slowed due to poor weight gain, and neuropsychiatric development lags significantly. Repeatedly examined in the hospital at the place of residence. Results obtained. A total of 47 genes with mutations causing hereditary diseases with predominant liver damage were studied by mass parallel sequencing. Substitution of c.523G>A (p.Asn175Asp) in the OTC gene in hemizygous state was detected. Clinical diagnosis was established: urea cycle metabolism disorder, hyperammonemia, ornithine transcarbamylase deficiency, E 72.2. Dietary recommendations were given. Carbaglu, Recordati, France at the rate of 100 mg/kg/24 h was prescribed on vital signs. Against the background of the therapy and dietary recommendations the condition of the child had a pronounced positive trend. Conclusions. Since the true incidence of this pathology in Russia has not been established (many cases of metabolic disorders of the urea cycle remain undiagnosed), the presented clinical case will allow clinicians, using modern possibilities of structural and functional analysis of the human genome, to make a timely diagnosis and prescribe adequate therapy, thereby not only prolonging the life of a young patient but also significantly improving its quality.
176-179 1919
Abstract
The causative agent of HPgV infection (HGV, GBV-C) was first described as hepatitis G virus, which was not confirmed during further researches. Human pegivirus-1 cannot be the cause of hepatitis and is not even pathogenic. The article presents an autopsy observation of the fulminant course of hepatitis of unclear etiology with HPgV persistence. Given the difficulties in establishing the etiology of cryptogenic hepatitis, initially, when analyzing this case, it was proposed to link the presence of HPgV with the development of fulminant hepatitis. Despite the detection of the virus in the blood and the hepatitis clinic, there are no causal relationships between these phenomena, as the article provides data from various researches. The wide spread of the virus in the human population and the absence of its etiological role in the development of pathological processes are shown.
180-184 275
Abstract

The purpose of the article is to draw the attention of gastroenterologists to the need for a more thorough diff erential diagnosis in patients with atypical paroxysmal abdominal pain.

A clinical case of a patient with an abdominal variant of focal epilepsy is illustrated. Attention is focused on the diagnostic criteria of the disease, the importance of conducting an electroencephalographic study and consulting a neurologist for paroxysmal abdominal pain, which will allow timely diagnosis and treatment.

185-190 501
Abstract

Celiac disease (gluten enteropathy) is a chronic genetically determined autoimmune T–cell-mediated enteropathy characterized by persistent intolerance to specific proteins of the endosperm of some cereals with the development of atrophic enteropathy and associated malabsorption syndrome.

Despite the growing interest in pathology, as well as the sufficient prevalence of the disease, this diagnosis often remains difficult to make.

The article presents a clinical case of an atypical form of celiac disease in a boy who was admitted to the hospital in a serious condition with a clinical picture of dynamic intestinal obstruction, which required extensive differential diagnosis.

Repeated laboratory tests (clinical, biochemical), instrumental methods of examination, including fi broesophagogastroduodenoscopy with biopsy material sampling followed by morphological diagnostics allowed us to conclude the presence of celiac disease in this patient.



Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1682-8658 (Print)