فهرست مطالب
Govaresh
Volume:21 Issue: 4, 2017
- تاریخ انتشار: 1395/12/04
- تعداد عناوین: 7
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- مقاله مروری
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صفحه 220بطور کلی هر دو شکل بیماری های رایج و بیماری های نادر می توانند در افراد خانواده ها بروز نمایند، بنابراین، جمع آوری سابقه خانوادگی می تواند یک ابزار غربالگری قدرتمند برای شناسایی این بیماری ها بشمار رود که باید درهربارمراجعه افراد به روزشده و افراد بیمارباید ازاهمیت آن درحفظ سلامت خود و بستگان آگاه شوند. برای آگاهی بیشتر در مشخص نمودن الگوی وراثتی بیماری ها، دراین مقاله درابتدا شواهد موجود درشباهت ژنتیکی درون و بین جمعیت های انسانی و تنوع ژنتیکی بشر را به اختصار توضیح خواهیم داد و سپس به اهمیت انجام مشاوره پزشکی و رسم شجره نامه و لزوم جمع آوری نمونه های بیولوژی برای انجام مطالعات ژنتیکی خواهیم پرداخت.کلیدواژگان: ژنتیک، وراثت، سابقه خانوادگی، شجره نامه، مشاوره ژنتیک
- مقاله پژوهشی
- مقاله گزارش مورد
- مقاله پژوهشی
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Page 193BackgroundUpper gastrointestinal bleeding (UGIB) remains a common medical problem worldwide. It is an emergency medical condition, which may require hospital admission. UGIB also increases the risk of morbidity, and mortality and uses health care resources. The aim of this study was to determine the endoscopic findings and their frequencies in patients with UGIB with regard to age in Tehrans Taleghani Hospital.Materials And MethodsThe medical records and endoscopy reports of 990 patients, who underwent endoscopy for UGIB in Tehrans Taleghani Hospital over a period of 2 years from 2010 to 2012, were retrospectively analyzed.ResultsA total of 990 patients consisted of 594 (60%) men and 396 (40%) women had endoscopy for UGIB. Mean (±SD) age of the patients was 54 (±17.2) years. The commonest (45.5%) cause of UGIB was peptic ulcer disease, which included; duodenal ulcer (26.4%), gastric ulcer (19.1%), followed by esophageal and gastric varices (19.5%). Malignant conditions (cancers) contributed to 14.7%, which included gastric cancer (7.2%), esophageal cancer (5.5%), and duodenal cancer (2%). Other less frequent causes of UGIB were esophageal ulcer (6.7%), erosive gastritis (6.3%), Mallory-Weiss syndrome (5.4%), and Dieulafoys lesion (1.2%). Normal endoscopic findings were recorded in 0.7% of the patients with UGIB.ConclusionPeptic ulcer diseases are the commonest cause of UGIB followed by esophageal and gastric varices.Keywords: Upper gastrointestinal bleeding, Endoscopy, Iran
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Page 194BackgroundCeliac disease (CD) is an auto-immune disorder. The prevalence of CD has been estimated mainly based on serological tests. The aim of this study was to evaluate the seroprevalence of celiac disease in the adult general population of Mashhad, northeast of Iran and pitfall of serology in epidemiological studies considering the importance of serology titer.Materials And Methods1558 subjects aged 35 to 65 years and 1025 individuals aged between 15 to 35 years were selected randomly from multistage cluster sampling papulation for this cross sectional study. Anti-tissue transglutaminase (tTG)-IgA assay was performed by ELISA(Enzyme-Linked Immunosorbent Assay). The manufactures cut-off point of anti tTG was 20 IU/mL and the prevalence of positive serology was estimated based on being just above the upper limit of normal (20 IU/mL), twice or three times above the normal value at 40 and 60 IU/mL, respectively.ResultsIn both age group 35-65 year-old and 15 to 35 years adults, the prevalence of positive serology was 1.2% for anti-tTG level more than 60 IU/mL, which was three times of the kit references (95% CI: 0.7- 1.9) and (95% CI: 0.7-2.1), and based on our previous study in Mashhad if we consider the cut-off point as 76 IU/mL antitTG for mucosal atrophy, the prevalence of CD would be 0.69.ConclusionEpidemiological data of CD is mainly based on serology and as these tests are to some extent non-specific at lower levels, the accuracy of the previous reported prevalence of CD in some studies are questionable and level of anti-tTG is important.Keywords: Celiac disease, Tissue transglutaminase, Prevalence, Serology
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Page 220In general¡ both common illnesses and rare diseases can develop in people and their relatives in families. Therefore¡ taking family history is an effective screening tool to detect such diseases and patients should be aware of its importance in families health with updating information in regular visiting. For more information on identifying the genetic pattern of diseases¡ in this article¡ we will first explain the evidence for genetic similarities within and between human populations and the human genetic variation. Then¡ we will address the importance of medical counseling and pedigree drawing and will clarify the necessity of biological samples and their collection in human genetic studies.Keywords: Genetics, Inheritance, Familial History, Pedigree, Genetic counseling
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Page 229BackgroundPancreatic cancer (PC) is classified as one of the most deadly cancers. Since the role of diet in modifying the effects of known risk factors of PC has been well established¡ exploring the dietary intakes in relation to the etiology of PC can be useful for elucidating the mechanisms of the disease progression.Materials And MethodsThis study was conducted within the Golestan prospective cohort study. The estimated intake of total fat and various dietary fat sources was calculated using a validated semi-quantitative food frequency questionnaire. The relationship between these dietary intakes and risk of PC was examined using Cox Regression and hazard ratio (HR) with 95% confidence interval (CI 95%) was reported.ResultsDuring 383¡630 person-years follow-up and after excluding subjects with incomplete baseline information¡ a total of 48¡676 adults were studied. Until October 30¡ 2014¡ 54 cases of PC were confirmed by medical professionals¡ based on the medical records and the exact cause of death using the criteria of the International Statistical Classification of Diseases and Related Health Problems 10 (ICD10). After adjusting for potential confounders we did not observe any statistically significant relationship between the intake of total fat and various dietary fat sources and risk of PC. There was only a significant positive association between the risk of PC and daily intake of butter¡ cream¡ and solid vegetable oil in the age-adjusted regression models (HR=2.10; 95% CI=1.04-4.21; P for trend=0.03). However¡ this relationship was not remained significant anymore in the fully adjusted models.ConclusionBased on the results of the current research¡ after taking into account all of the potential confounding factors¡ dietary intake of total fat as well as various dietary fat sources had no significant association with the risk of PC. However¡ it is likely that consuming substantially less saturated and trans fat sources such as dairy fats as well as solid vegetable oils may be beneficial to reduce the risk of this cancer.Keywords: Cohort studies, Pancreatic cancer, Dietary intakes, Dietary fat sources
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Page 237BackgroundHelicobacter pylori (H. pylori) is the cause of most cases of peptic ulcers and gastric cancers and cause some of the most important cause of stomach cancer and lymphoma. The objective of this study was to evaluate the time trend of Helicobacter pylori prevalence and presence of intestinal Metaplasia over the period of 7 years in gastritis Iranian patients.Materials And MethodsIn this cross-section study data related to H. pylori and intestinal Metaplasia (IM) among 14¡860 consecutive gastritis patients¡ who referred to the gastrointestinal department of Tehrans Taleghani Hospital in Iran¡ was examined across the sex and age group.ResultsThe overall prevalence rate among patient with H. pylori infection was 83.5% (12406/14860) and 11¡394 (84.1%) of them were related to the gastritis. The prevalence rate of H. pylori among patient with gastritis significantly higher )pConclusionThe results of this study showed that the prevalence of H. pylori infection in Iranian population has declined in recent years; nevertheless it seems to be highly prevalent in Iran. We also find a significant positive relationship between H. pylori infection and IM with gastritis. There is no association between sex and infection but in contrast with the most studies its prevalence decreased with age.Keywords: Prevalence, H. pylori, Gastritis, Intestinal metaplasia, Iranian population
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Page 238Esophageal perforation is a rare yet very serious condition¡ which usually needs surgical repair. In spite of its rarity¡ esophageal perforation could become extremely dangerous and even life-threatening. Therefore it needs immediate surgical intervention. The first symptom to appear is pain. Perforation in the middle and lower third of the esophagus might as well cause difficulty in swallowing¡ dyspnea¡ and chest pain. A 61-year-old man presented to the Emergency Room due to sensation of a foreign body and epigastric pain after meal for which he underwent upper endoscopy. The foreign body was seen in the lower third of the esophagus. Considering the bilateral penetration of the sharp foreign body to the esophageal wall¡ no effort was made to bring the foreign body out. The patient underwent computed tomography (CT) without contrast¡ which showed right posterolateral mediastinal air leakage and slight pleural effusion in the right hemithorax. As recommended by thoracic surgeon¡ instead of thoracotomy¡ the foreign body was brought out in the operating room by endoscopy (under preparation in order to convert the procedure to thoracotomy if needed). After the procedure¡ a CT with oral contrast was done¡ which showed free air and leakage of contrast to the right posterolateral hemithorax as well as an increase in the pleural effusion. Normal saline was immediately injected to both sides of the perforation site by endoscopy in order to prevent further leakage. The patient was observed by both surgery and gastroenterology teams for a week to undergo thoracotomy in case he develops mediastinitis. After a week¡ he underwent Gastrografin swallow and then Barium swallow. The patient was discharged from the hospital because no evidence of remaining perforation or any microperforations were seen. Esophageal perforation is a surgical emergency usually happening due to diagnostic and pass through esophagous to go to the therapeutic actions. Most swallowed foreign bodies stomach¡ but sharp objects may cause perforation in esophagus. Foreign bodies mostly get trapped in the physiologic constrictions. Dysphagia and odynophagia are subcutanneous common symptoms of foreign body invasion in to the esophagous. Emphysema is a diagnostic key for the matter of esophageal perforation. Treatment for such condition differs among various patients.Keywords: Dysphagia, Esophageal Cysts, Endoscopic Ultrasound
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Page 243BackgroundThe aim of this study was to translate and evaluate the validity and reliability of the Nepean Dyspepsia Index (NDI)¡ as a disease-specific quality of life scale in patients with functional dyspepsia.Materials And MethodsForward-backward translation was done. 80 patients with dyspepsia from the outpatient department of Imam Reza Hospital were assessed. Data were analyzed using SPSS software version 20 and face validity¡ content validity (CVR)(pls spell out)¡ construct validity (Spearman''s rrho)¡ and reliability (test-retest and Cronbach''s Alpha) were evaluated.ResultsCVR was between 0.80-1¡ which demonstrated good content validity. Test-retest reliability was good with correlation coefficient of 0.89 and intraclass correlation coefficient of 0.96. Internal consistency revealed α value of 0.93¡ which was well above the agreeable value of 0.70. These both indicate a good reliability. Spearman''s correlation coefficient was 0.48. between all NDI items and subscales which indicates moderate to good construct validity.(it seems that this sentence is not complete because in this format it is meaningless)ConclusionThis study demonstrates that the Persian translation of SF-NDI (pls spell out the highlighted part) is a valid and reliable instrument to measure health related quality of life (HRQoL) in Iranian patients with dyspepsia. It also shows that HRQoL is significantly higher in patients with high school diploma or higher educational levels.Keywords: Functional dyspepsia, Health related quality of life, Validity, Reliability, Nepean Dyspepsia Index