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Introduction@#Cases of gastric cancer have been declining worldwide in recent years. However, gastric cancer incidence increased in the last decade in Mongolia. In Mongolia, over 80% of gastric cancer cases are diagnosed during the late stage. Several studies have revealed that serum pepsinogens (PGs) level reflects, indirectly, histological and functional characteristics of the gastric mucosa.@*Goal@#We aimed to evaluate the risk of gastric cancer and its precancerous condition based on serum PGI, PGI/II biomarkers.@*Materials and Methods@#This case-control study enrolled 114 subjects, including patients with gastric cancer (n=36), atrophic gastritis (n=40) and healthy controls (n=138). The questionnaires were obtained to determine risk factors. Serum PGI, PGII, and H. pylori IgG levels were measured by ELISA (Pepsinogen I ELISA; Pepsinogen II ELISA; H.Pylori IgG ELISA; BIOHIT Plc, Helsinki, Finland). PGI to PGII ratio was calculated. Patients were classified into the ABC(D) group according to Miki K approach. Also, we developed new scoring system based on some risk factors and serum PGI, PGI/II ratio. Logistic regressions were performed to evaluate risk and expressed by odds ratio (OR) and 95% confidence intervals (95%CI).@*Results@#Mean age of the subjects was 60±10.9 years. H.Pylori was positive in 67 subjects. The serum PGI and PGI/II ratio levels were significantly decreased in gastric cancer and atrophic gastritis groups compared to the healthy control. According to classification ABC(D), group D (OR 5.04, 95% CI 1.13-22.50) had higher proportion of atrophic gastritis cases, group C (OR 6.19, 95% CI 1.04-36.78) had higher proportion of gastric cancer cases than others. Additionally, we created a risk prediction scoring system with a score ranging from 0 to 7, based on variables age, family history of gastric cancer, prior disease history, PGI and PGI/II ratio levels. For the atrophic gastritis patients, 17 (42.5%) were classified into medium-risk category (OR 4.49, 95% CI 1.38-14.58) and 17 (42.5%) were classified into high-risk category (OR 7.69, 95% CI 2.16-27.43). Whereas, 11 (30.6%) patients with gastric cancer were classified into medium-risk category (OR 4.35, 95% CI 1.13-16.85), 21 (58.3%) were classified into high-risk category (OR 14.25, 95% CI 3.60-56.43).@*Conclusion@#The methods based on serum PGI and PGI/II may identify a high risk population of gastric cancer and atrophic gastritis.
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Background@#The incidence of gastric cancer has been declining worldwide in recent years; on the contrary, it has increased in the last decade in Mongolia. In Mongolia, over 80% of gastric cancer cases are diagnosed in the late stage. We performed a gastroduodenoscopy for screening and histological evaluation to diagnose gastric cancer. These methods are an effective diagnostic modality for gastric diseases; however, invasive and cause discomfort, making it an undesirable procedure for patients. @*Aims@#To determine serum PGs and H.pylori IgG in atrophic gastritis and gastric cancer patients and evaluate the risk by ABC(D) classification. @*Materials and Methods@#We selected 40 atrophic gastritis and 36 newly diagnosed gastric cancer patients from National Cancer Center of Mongolia, before surgery and other therapies. Besides, we enrolled population-based 38 healthy controls. Subjects of three groups were matched by age (±1) and sex. Written informed consents were obtained from all subjects. The fasting blood samples were collected and tested PGI, PGII, and H.Pylori IgG levels by enzyme-linked immunosorbent assay. Also, PGI to PGII ratio (PGI/II ratio) was calculated. We classified subjects into four groups based on ABC(D) classification. All statistical analyses were performed by SPSS (version 26.0, Chicago, IL, USA) software. @*Results@#Median age of the subjects was 62, 52.6% (n=60) were male. Proportions of family history of gastric cancer and previous history of gastric disease were significantly higher in the gastric cancer group compared with atrophic gastritis and healthy control groups (p<0.05, p<0.05). H.pylori was positive in 67 (58.8%) subjects according to H.pylori IgG assay and there was no difference between study groups. The serum PGI level and was significantly decreased in gastric cancer and atrophic gastritis groups as compared to the healthy control (p<0.05, p<0.05). The PGI/II ratio was significantly lower in the gastric cancer group compared with the healthy control (p<0.01). The optimal cut off value of PGI was ≤35.25 ng/ml (AUC 64.3, 95% CI 51.3-77.2, p<0.05) for gastric cancer and PGI was ≤75.07 ng/ml (AUC 65.2, 95% CI 53.0-77.3, p<0.05) for atrophic gastritis. Also, the optimal cut off value of PGI/II ratio was ≤5.27 (AUC 71.6, 95% CI 69.6-82.8, p<0.01) for gastric cancer and PGI/II ratio was ≤6.25 (AUC 62.7, 95% CI 50.1-75.3, p<0.05) for atrophic gastritis. According to classification of atrophic gastritis patients and healthy control, group D had higher proportion of atrophic gastritis cases than group A, B and C (OR 5.04, 95% CI 1.13-22.50, p<0.05). According to classification of gastric cancer patients and healthy control, groups C had higher proportion of gastric cancer cases than group A, B and D (OR 6.19, 95% CI 1.04-36.78, p<0.05).@*Conclusion@#Our findings suggest that PGs level and H.pylori IgG may predict development of gastric cancer and could identifying individuals at high risk of gastric cancer and precancerous lesions who may need endoscopy.
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@#Research of function of vitamin D on immune system has been studying since the study revealed that vitamin D receptor is expressed on the surface of the immune cells. 1,2-dihydroxyvitamin D3 [1,25(OH)2D], physiologically active form, can be generated through hydroxylation of 25-hydroxyvitamin D3 [25(OH)D], inactive form of vitamin D, in a liver, connecting with specific VDR make biological action. Vitamin D make different biological actions depends on connecting with different immunological cells. Some studies indicated that Vitamin D plays pivotal role in antibacterial innate immune responses through regulating reaction of the main cells as macrophages and dendritic cells. Moreover, calcitriol, the active form of vitamin D, is connected with VDRE, modulates the innate immune response through directly inducing expression of catelicithin and β-defensin as antimicrobial peptides, reducing secretion of IL-1b, IL-6, TNF-a, RANKL, COX-2 as proinflammatory cytokines and increasing production of IL-10, an anti-inflammatory cytokine. Vitamin D plays in proliferation and differentiation of T and B cells and regulates the activities of over 500 genes. Vitamin D differently impacts on per se stages of T cells’ proliferation. Vitamin D indirectly mitigates the differentiation from immature B cells to plasma B cells while it directly impacts on regulation of overloaded production of antibodies in plasma B cells. In conclusion, vitamin D modulates the innate- and adaptive immune response through regulation on activation of APCells, proliferation and differentiation of immune cells, secretion of some antibacterial peptides.
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Introduction@#In 2018, a total of 901 new cases of gastric cancer were recorded, of which 64.8% in males and 34.2% in females. The incidence rate of gastric cancer was 28.5 per 100 000 population, which 38.2 for males and 19.2 for females.@*Goal@#We aimed to investigate the associations between some risk factors and gastric cancer among the Mongolian population. @*Materials and Methods@#A case-control study was conducted between November 2017 and September 2019. We selected 120 cases from National cancer center of Mongolia who newly diagnosed gastric cancer. And 120 controls were selected by matching by sex, age and the place of residence. Informed consents were obtained from all subjects. All subjects were personally interviewed with researchers used by a structured questionnaire consisting of 86 questions. The SPSS 21 (version 16.0, SPSS Inc., Chicago, IL, USA) software was used for all analyses.@*Results@#The mean age was 59.2±11.4 (26-85) years. Habits of having dinner after 6.00 pm (OR 1.42, 95%CI 1.11-1.83, p=0.008), having leftover meals (OR 2.22, 95%CI 1.27-3.86, p=0.008), daily consumption of tea with salt (OR 1.97, 95%CI 1.18-3.30, p=0.01), smoking on an empty stomach (OR 2.44, 95%CI 1.11-5.37, p=0.033), weekly consumption of ham and smoked meat (OR 1.5, 95%CI 1.17- 2.13, p=0.02), and consumption of fat grease (OR 2.09, 95%CI .03-4.24, p=0.038) were significantly increased gastric cancer risk. In contrast, habit of eating at regular times (OR 0.43, 95%CI 0.25-0.73, p=0.002), chewing thoroughly (OR 0.39, 95%CI 0.23-0.67, p=0.001), cooking meat thoroughly until it’s tender (OR 0.48, 95%CI 0.25-0.97, p=0.047), daily consumption of vegetables (OR 0.45, 95%CI 0.27-0.76, p=0.003), and daily consumption of fruit juice (OR 0.36, 95%CI 0.15-0.85, p=0.026) were significantly reduced gastric cancer risk. Furthermore, having first-degree relatives diagnosed with gastric cancer had 2-3 fold higher increased risk of gastric cancer (parents OR 2.88, 95%CI 1.07- 7.78, p=0.038, sibling (OR 3.09, 95%CI 1.09-8.81, p=0.036). Also, previous records of the digestive disease increased risk of gastric cancer (OR 3.65, 95%CI 2.10-6.35, p<0.0001).@*Conclusion@#Dietary habits, family history of gastric cancer and previous records of digestive disease were associated with risk of gastric cancer. Thus, prevention effort could be focused on the population with a family history of gastric cancer, changing bad dietary habit and screening precancerous disease of gastric cancer.
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Introduction@#Cancer is a major public health issue both in Asia and in Mongolia. The most prevalent cancer related deaths in Mongolia are registered for the stomach, esophagus and liver. @*Purpose@#We aimed to investigate the incidence of stomach and esophageal cancer in Mongolian population. @*Materials and Methods@#Epidemiologic data were collected from 2009 to 2018 through the oncology cabinet of all hospitals and medical centers from all provinces, soums (the smallest unit of provinces) and major districts of the capital city. The incidence of stomach and esophageal cancer was calculated by appropriate methods and it was presented by ArcGIS Pro 9.2 software. A P-value of less than 0.05 was considered to be statistically significant and based on two side hypotheses. All calculations were performed in the IBM SPSS Statistics software. The study design in concordance with ethical guidelines was approved by the Ethics Committee of Ministry of Health Mongolia. All clinical investigations were conducted according to the principles laid down in the Declaration of Helsinki.@*Results@#The incidence of esophageal cancer in last ten years (2009-2018) was 10.09 in 100000 populations and the highest incidence were registered in Uvs (38.13), Bayan-Ulgii (24.15) and Zavkhan (18.18) provinces, respectively. The incidence of stomach cancer was 20.33 in 100000 populations and the highest incidences were registered in Uvs (53.01), Khovd (46.02) and Darkhan-Uul (40.50) provinces, respectively. @*Conclusion@#</br> 1. Incidence rates for esophageal and stomach cancer are high among the Mongolian population. In the last decade, the incidence of esophageal cancer had not decreased significantly, but it’s constant. </br> In our study, the esophageal cancer incidence was 10.09 per 100’000 people, which includes one of the high incidence rate countries according to the WHO classification. More than 10 aimags incidence rate of esophageal cancer was higher than the National average. Most of them have occurred in the western region of the country. Most of the Western, some of Khangai and Eastern soums have had the highest incidence of esophageal cancer what we have shown on the mapping. </br> 2. The incidence rates of stomach cancer were registered as 20.33 per 100’000 people in the last 10 years at the national level. It has shown that according to the WHO classification, our country is also one of the countries with the highest incidence of stomach cancer. The stomach cancer incidence trend was increased in the last 10 decades. Therefore, some of aimag’s soums has included the highest rate classification. In addition, some soums in the Western, Khangai, and Eastern aimags had have a very high incidence of stomach cancer. </br> According to results in the above, the nationwide targeted prevention program is needed especially where the highest incidence rates. Also there is a lack of cooperation between national organizations to accurate registration of gastrointestinal cancer and to fight against these harmful cancers.
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@#Gastric and esophageal cancer is a significant global health issue. The epidemiology of these tumors has significantly increased over the past several years especially in developing and developed countries. Many dietary exposures have been proposed to protect against or increase risk for esophageal and gastrointestinal (GI) cancers, including poor diets, foods, individual nutrients, methods of food preparation, and habits of consumption. Overweight/obese status is associated with an increased risk for many cancer types such as esophageal, gallbladder, kidney, pancreatic and gastric cancer. The association between obesity and cancer is strong. Nowadays there is a recognized decrease in incidence and mortality of distal gastric cancer and an increase in incidence and mortality of proximal esophageal cancer. In Mongolia, gastric cancer is the second most common cancer in males and the third most common in females. It is very important to understand how diet and nutrition affect to gastric and esophageal cancers. In this review we will discuss the effect of diet in locally advanced gastro-esophageal cancer. Although we tried to conclude all published articles about gastric and esophageal cancers in Mongolia. </br> In this survey, is considered dietary risks into 5 groups as following; </br> • Insufficient nutrition education(don’t know food and nutrients significance and food hygiene, don’t know right consumption of food) </br> • Bad habits (hot tea and meals, salty tea and food, low consumption of fruits and vegetables, sometimes eating breakfast, most of daily energy of food in the night, high amount of sugar, a drink of caffeine, overweight and etc.) </br> • Food processing technology (such as overcooking, pickling, preserving, frying, excessive salt in tea fried and etc). </br> • Chemical contaminants in food products (various inorganic fertilizers, heavy metals and etc.) </br> • Household economic capacity is influencing</br> Diet can be used as a tool to evoke the positive/desirable biological responses of an organism aiming to maximize health and protection against diseases (chronic/non-communicable diseasesparticularly cancer) by mostly means of prevention.
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Introduction@#Gastric cancer is still one of the most leading causes of mortality in the world. The highest mortality rate of gastric cancer is estimated in Mongolia. South Korea and Japan, where leading the incidence of gastric cancer, mortality rates are observed in 51th and 31nd rank respectively. In Mongolia, gastric cancer is the second leading site, after liver cancer.@*Goal@#We aimed to determine the cause of late diagnosis of gastric cancer and to evaluate supply of upper endoscopy devices and human resource for gastric cancer in the general hospital of provinces and districts. @*Materials and Methods@#In this study, 84 patients suffering from gastric cancer (42 patients in III, IV TNM stage; 42 patients in I, II TNM stage)were investigated in National Cancer Center, Mongolia. A survey questionnaire which included age, gender, education, income, risk factors and clinical questions was detected from all patients. And we conducted study of supply of upper endoscopy devices and human resource for gastric cancer in general hospitals of from 21 provinces and general hospitals of 6 districts by questionnaire. @*Results@#Seventy three(86.9%) patients were over 50 years old and the highest rates of gastric cancer were in group of 61-70 years (40.5%). From the results, the reason to visiting hospital was significantly different between two groups. 55.1% of patients suffering from early-stage gastric cancer were voluntarily diagnosed by upper endoscopy. In contrary, 55.8% of patients suffering from late-stage gastric cancer have visited the hospital due to worsening symptoms or dysphagia and vomiting. Factors such as age, gender, education, employment status and income had no significant effect on late diagnosis of gastric cancer. In totally 24(89%)general hospitals out of 27 had upper endoscopy devices and 22 (81.5%) hospitals had endoscopist. Although 75% of total general hospitals conduct annual cancer screening, 64% of them do not perform the endoscopy in annual screening.@*Conclusion@#In our country, late diagnosis of gastric cancer is related to the attitudes of patients for preventing and screening disease. Therefore, it is important to improve the health education of the population and to develop healthy, right attitudes and practices. And the study revealed that general hospitals have insufficient for upper endoscopy devices and human resource.
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@#Gastric cancer is the second leading cause of death worldwide. About half of the incidence of stomach cancer has been reported in East Asian countries. In Mongolia, gastric cancer is the second most common cancer in males and the third most common in females. The age-standardized mortality rate for gastric cancer was 29.3 per 100,000 in 2016, ranking second after liver cancer. Pepsinogen (PG) is a proenzyme of pepsin, by chief and mucous neck cells in the gastric mucosa. On the basis of the source of secretion, PGs are subdivided into 2 types: PG I and II. PG I is only secreted from the fundic glands in the corpus of the stomach, whereas PG II is secreted from the corpus, as well as the pyloric glands in the antrum and proximal duodenum. PG is excreted mainly into the stomach lumen, but approximately 1% diffuses into the blood stream. Atrophic gastritis and intestinal metaplasia are well-known risk factors for gastric neoplasms including dysplasia. To identify these premalignant gastric conditions, histological biopsy or image-enhanced endoscopy is performed. Gastric cancer is usually preceded by a decades-long precancerous process driven by Helicobacter pylori infection and environmental conditions with well-defined successive lesions. In the advanced stages, they are characterized by glandular atrophy and intestinal metaplasia. These changes involve loss of the original glands and result in decrease of the mass of chief cells of the gastric corpus, where PGI is produced. Loss of chief cells leads to lower PGI levels and PGI/PGII ratio in the peripheral blood. Serum PG levels are therefore a key tool to be used in screening programs. Serum PG measurements could provide a simple and noninvasive method for screening gastric neoplasms.
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@#Gastric cancer has been and still considered one of the most common causes of cancer-related mortality and it continues to be a major public health issue. The incidence and mortality of gastric cancer in Mongolia is the highest in the world. For this reason, this paper provides the information about current status of gastric cancer in Mongolia in the first section. Morbidity and mortality of gastric cancer increased steadily during the last decade. In the second section we overview the most important factors that can accelerate the risk of gastric cancer. Evidence from case-control, cohort studies and meta-analysis have suggested that the risk of gastric cancer is related to several factors including genetics, Helicobacter pylori, other factors related to the environment and lifestyle. Risk factors could have different effects on the onset and the evolution of gastric cancer.
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@#Familial hypercholesterolemia (FH) (OMIM#143890) is the most common metabolic autosomal disorder. The prevalence of the homozygous FH has been reported as 1 in a million in the general population, compared to much more mild form heterozygous FH with prevalence of 1 in 200-500. Mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (ApoB), proprotein convertase subtilin/kexin9 (PCSK9), and low-density lipoprotein receptor adapter protein 1 (LDLRAP1) genes have been linked to FH. These mutations result in a disorder in low-density lipoprotein cholesterol (LDL-C) catabolism, and significantly increasing the levels of LDL-C, total cholesterol in serum, leading to specific clinical signs such as tendon xanthoma, corneal arcus, cardiovascular diseases, and early death from coronary heart disease if left unattended. Therefore, there is an ardent need for early diagnosis followed by aggressive therapeutic intervention and lifestyle modification. Currently, FH can be diagnosed either clinically or genetically. There have three main clinical diagnostic criteria for FH: the US MedPed Program, the Simon Broom Register Group in the UK, and the Netherland’s criteria. The occurrence of so many different LDLR mutations and their widespread distribution throughout the gene imposes severe practical limitations on simple genetic screening. Indeed, exon by exon sequencing of LDLR and other genes in each patient is the best screening genetic methods of choice. Although the hypercholesterolemia associated with FH can be controlled with cholesterol-lowering drug therapy (statins and other), patient response can vary quite widely.
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Background @#Low triglycerides and cholesterol was associated with hepatitis C virus (HCV) infection. Chronic HCV infection is the main cause of liver injury and it may influence to serum lipid levels. We aimed to evaluate the effect of antiviral treatment on the change of lipid profiles during interferon-based anti-HCV treatment. @*Material and Methods @#Totally 863 patients who completed the interferon-based antiviral therapy in Kaohsiung Medical University Hospital were included in this present study. The lipid profile measured and assessed in the baseline of the treatment and after 6 months of completion of the treatment. @*Results @#The most of the patients (81.2%) were achieved sustained virological response (SVR) by antiviral therapy. There was no significant difference between baseline triglycerides (TG) levels in the SVR group and non SVR groups. The TG levels at 6 months after completion of the treatment was significantly elevated in SVR group (102.9±57.0 mg/dL, p=0.0001) but did not elevated in non SVR group (94.5±45.6 mg/dL, p=0.690) compared with baseline TG levels. </br> After adjusting patients by four indexes for fibrosis (FIB4) in cut-off point 3.25, serum TG levels significantly increased in low FIB4 group (103.2±57.9 mg/dL, p=0.0001) but not in high FIB4 group (98.1±49.6 mg/dL, p=0.095) after 6 months end of the treatment. Serum TG level was increased greater in patients who had low FIB4 score and patients who achieved SVR (baseline 89.1±34.8 mg/dL; 6 months after treatment 104.3±59.3 mg/dL, paired T test p=0.0001). @*Conclusion@#The eradication of HCV is the main cause of the increase of lipids after Pegylated Interferon and Ribavirin treatment. </br> However advanced fibrosis also has an effect in increase of TG after the treatment.
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BackgroundIn the worldwide, each year registered about 357 million new cases of sexual transmitted diseases.39 % of all infectious diseases were STI diseases in Mongolia in 2013 and which also 56.8 % of totalinfectious diseases Dornod province.ObjectiveTo investigate sexual transmitted diseases among the population of Dornod province and its commonrisk-factors.Materials and MethodsIn the survey were chosen 600 persons which is aged from 15 to 64 by random selection methodand divided into 6 cluster and each cluster had 100 persons. In the survey attended 300 male, 300female.ResultsThe survey respondents were married 59.1%, 50.7% of the employed, and 49.3% of the unemployed.2,1% of the survey population has already been tried drug abuse, but in the group of age 15-24,indicate level of the knowledge about drug abusing is very low which is 29,4%, a little or less knowabout drug abusing 35,6%, not know about drug abusing 35%. In other hand beverage usage levelwas very high which is 67% and 51,3% is using an alcohol in the last year constantly.Examination of specialized doctors 38.3% were suspected of sexual transmitted infections. Theyincluded laboratory testing.The 4.9 percent of total respondents had sexually transmitted diseases. It were syphilis 57.1%,gonorrhea 10.2%, trichomonasis 6.1%.The 83 percent of total respondents had sexual intercourse. The average age of first sexualintercourse was 18 ± 1 (95% CI 16.8 - 19.1), 7.1% had two or more sexual partners. Men had toused alcohol while sexual intercourse was 32.1 percent. Women were 49.2 percent and 38.5 percentof people infected with sexually transmitted diseases not use condoms during sexual intercourse.Conclusion1. One in 20 people surveyed, women aged 15-24 and men aged 35-44 have sexual transmissioninfection.2. Risk factors are had two or more sexual partners, had to used alcohol while sexual intercourseand using condoms during sex with casual partners are not enough.
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Introduction: Leading cause of mortality was cardiovascular disease alone last two decade and occurs5500-6000 deaths annually in Mongolia. Familial hypercholesterolemia is the most common inheritedmetabolic disorders and is characterized by severely elevated LDL-cholesterol levels. The prevalenceof the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from1 in 160,000 to 1 in 1,000, 000.Goal: To identify Heterozygous Familial hypercholesterolemia among the patients with cardiovasculardisease and study clinical features.Materials and Methods: After view medical examination patients with coronary heart disease andcerebral vascular disease, we selected 183 patients among 26 family who possible to have HeterozygousFamilial hypercholesterolemia. We analyzed family history, clinical examination and lipid parameters.And identifi ed Heterozygous Familial hypercholesterolemia by diagnostic criteria of Netherlands.Results: The mean age for males was 42.3±14, for females was 45.8±15 and gender distribution was42.6% (78) male, 57.4% (105) female. Hypertension occurred in 80.9% (148). BMI was increasedwith age in both sexes (P<0.001). The frequency of tendon xanthoma was 26.8% (49) and cornealarcus was 36.6% (67). The level of total cholesterol and LDL-C were signifi cantly elevated in patients.Identity Heterozygous Familial hypercholesterolemia by criteria of Netherlands was certain-36.1%,probable-42.6%, possible-18.6%, unlikely FH-2.7%.Conclusion: Identifi cation of these individuals at an early age and an aggressive treatment of all knownrisk factors are important for reduce mortality of cardiovascular disease. The Netherland’s criteria issuitable for diagnosing Familial hypercholesterolemia in the Mongolian population, although it does notdiagnose the condition at the genetic level.
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Background and Purpose Liver disease that caused by iron metabolism failure is called Hemochromatosis (clinically “Bronze diabetes”, “Over spotted liver cirrhosis”). The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron the human body absorb from food. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. According to the study there is a real need to study the clinical reveals of hemachromatosis in Mongolian patients. The purpose of the study to determine the hemachromatosis in patients with liver cirrhosis and cancer.Methods and Materials: The study involved 68 patients with diagnosis Liver cirrhosis and HCC (1st stage) who were hospitalized in Clinic of Gastroenterology of Shastin clinical hospital and “Shagdarsuren” Hepatic hospital from April to July, 2011. All patients were increased blood iron and iron compounded proteins (ferritin, transferrin). DNA analyze have made in Molecular Biological Laboratory of Institute of Biology, Mongolia. Sequencing assay has made in Molecular Biological Laboratory of Humboldt University, Germany.Results. The patient’s age was 25-86, the mid aging – 55.42±1.7. The allele frequencies of the C282Y, H63D, and S65C mutation (which in chromosome 6) were 16/136, 11.7% (heterozygous 7, homozygous 2), 9/136, 6.6% (heterozygous 0, homozygous 9), 3/136, 2.2% (heterozygous 0, homozygous 3), equally 28/136, 20.5% (heterozygous 7, homozygous 14). Conclusions. In conclusion, the occurrence of the C282Y, H63D, and S65C mutation within HFE in this studied cohort of hereditary hemochromatosis. Therefore, these data incline that other factors than the HFE gene may play a role in determining hereditary hemochromatosis in Mongolians.
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Background and purpose: Liver disease that caused by iron metabolism failure is called Hemochromatosis (clinically "Bronze diabetes", "Over spotted liver cirrhosis"). The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron the human body absorb from food. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. According to the study there is a real need to study the clinical reveals of hemachromatosis in Mongolian patients. The purpose of the study to determine the hemachromatosis in patients with liver cirrhosis and cancer.Materials and Methods: The study involved 50 patients with diagnosis liver cirrhosis and cancer (1st stage) who were hospitalized in Clinic of gastroenterology of Shastin clinical hospital and "Shagdarsuren" hepatic hospital from April to July, 2011. The special questionnaire was used in the study. The biochemical laboratory examinations were taken and analyzed in lab "MED ANALYTIC". Biochemical tests performed on HumaStar 80 fully automatic analyzer. Determination of Iron level was performed by Photometric colorimetric test for iron with lipid clearing factor (normality 37-148ug/dl), transferring level by Turbidimetric monoreagent for the quantitative determination of transferring (normality 170-340ug/dl), glucose level by (GOD-PAP method) Enzymatic colorimetric test for glucose method without Deproteinisation (normality 75-115ug/dl). The ferritin level performed by ELISA analyzer (normality 15-240ng/ml).Results: The patient's age was 25-86, the mid aging-55.42. From all patients (29 male and 21 female) who were participated in the study, the 25 were with diagnosis liver cirrhosis and 18 of them clinically has the Child Pugh "B" cirrhosis, 7 has Child Pugh "A". The other 25 patients were with diagnosis liver cancer first stage.According to biochemical analyzes iron (n=35;70%); ferritin (n=41;82%); transferring (n=27; 54%); sugar (n=21;42%) levels were elevated.During the liver disease caused by iron overloading the following clinical symptoms were observed:- Skin spotting, n=48 (98%)- Hepatomegaly, n=33 (66%)- Splenomegaly, n=28 (56%)- Diabetes mellitus symptoms, n= 30 (60%)- Cardiovascular disease, n=16 (32%)- Respiratory system disorders, n=11 (22%)- Gonadotrophy, n= 2 (4%)The average serum iron level in case of livercirrhosis was 189.84+18.5mg/dl, in liver cancer 160.4±13.91 mg/ dl, ferritin level in case of liver cirrhosis was 407.69+50.08ng/ml, transferrin 375.68±47.38mg/dl, glucose 121.1±7.15mg/dl, ferritin level in liver cancer was 391.67±47.79ng/ml, transferring 388.76±47.38mg/dl, glucose 114.59±5.78mg/dl.
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Autosomal dominant PKD (ADPKD) is the most common monogenic genetic disease, and affects one in 500–1000 humans. Approximately half of all affected patients develop end-stage renal disease in the fifth to sixth decade of life. In a majority of cases (80-85%), the gene involved is PKD1, which is located on chromosome 16 (16q13.3) and encodes polycystin-1, a large receptor-like integral membrane protein that contains several extracellular mo-tifs indicative of cell-cell and cell-matrix interaction. In the remaining (10-15%) cases, the disease is milder and is caused by mutational changes in another gene (PKD2), which is located at chromosome 4 (4q21-23) and encodes polycystin-2, a transmembrane protein, which acts as a nonspecific calcium-permeable channel. ADPKD is gener¬ally a late-onset multisystem disorder characterized by bilateral renal cysts; cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane; vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Renal manifestations include hypertension, renal pain, and renal insufficiency. PKD1 and PKD2 gene mutations result in similar extra-renal manifestations, including PLD and intracranial aneurysms. Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. While most cases manifest peri-/neonatally with a high mortality rate in the first month of life, others survive to adulthood. ARPKD is caused by mutations in the Polycystic Kidney and Hepatic Disease 1 (PKHD1) gene on chromosome 6p12. PKHD1 is an exceptionally large gene (470 kb) with a longest open reading frame transcript of 67 exons predicted to encode a 4,074-amino acid (aa) (447 kDa) multidomain integral membrane protein (fibrocystin/polyductin) of unknown function.
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Hemochromatosis is a common inherited disorder of iron metabolism in which an inappropriate increase in intestinal iron absorption results in deposition of excessive amounts of iron in parenchymal cells with eventual tissue damage and impaired organ function. The human HFE gene was identified as the most common form of hemochromatosis in 1996. A homozygous G A mutation resulting in a cysteine to tyrosine substitution at position 282 (C282Y) is the most common mutation. It is identified in 85–90% of patients with hereditary hemochromatosis in populations of northern European descent. A second relatively common HFE mutation (H63D) results in a substitution of histidine to aspartic acid at codon 63. Homozygosity for H63D is not associated with clinically significant iron overload. Some compound heterozygotes (e.g., one copy each of C282Y and H63D) have moderately increased body iron stores but develop clinical disease only with cofactors such as heavy alcohol intake or hepatic steatosis. Thus, HFE-associated hemochromatosis is inherited as an autosomal recessive trait; heterozygotes have no, or minimal, increase in iron stores. However, this slight increase in hepatic iron can act as a cofactor that modifies the expression of other diseases such as porphyria cutanea tarda (PCT) and nonalcoholic steatohepatitis. Mutations in other genes involved in iron metabolism are responsible for non-HFE-associated hemochromatosis, including juvenile hemochromatosis, which affects persons in the second and third decade of life. Mutations in the genes encoding hepcidin, transferrin receptor 2 (TfR2), and hemojuvelin result in clinicopathologic features indistinguishable from HFE-associated hemochromatosis. However, mutations in ferroportin, responsible for the efflux of iron from enterocytes and most other cell types, result in iron loading of reticuloendothelial cells and macrophages, as well as parenchymal cells.