31 research outputs found

    Akhenaten’s mystery remains

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    Prevalence and Clinical Significance of Hepatitis B Basal Core Promoter and Precore Gene Mutations in Southern Iranian Patients

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    Background and Aims: To investigate the prevalence and pattern of PC and BCP mutations and their clinical significance in patients with genotype D chronic hepatitis B infection in the Fars province of southern Iran. Materials and Methods: From January 2007 to March 2008, we evaluated 44 patients with chronic hepatitis B infection who were referred to our hepatology clinics affiliated with the Shiraz University of Medical Science. All Patients were HBeAg Negative and HBeAb positive. Basal core promoter and precore mutations in these patients were evaluated with clinical phenotype and laboratory tests. Results: The mean age of the patients was 37.21 ± 10.54 years. Twenty-seven patients (61.4) had no mutations, whereas 17 patients (38.6) had mutations in the precore or basal core promoter regions or both. The mean serum ALT level in mutation-free patients was 59.74 ± 55.86 IUL, whereas patients with PC and BCP mutations had a mean serum ALT level of 71.35 ± 59.49 IUL. The mean serum AST level in patients with mutations was higher than for patients without mutations (59.53 ± 41.35 IUL vs. 40.65 ± 25.21 IUL, respectively). There was no statistically significant difference between the mutation and mutation-free groups in terms of age, sex, and liver enzyme levels (P > 0.05). Fourteen of the 44 patients (31.8) had mutations in the precore region (G 1896A). 17 patients (38.6) had mutations in basal core promoter region. Conclusion: This study revealed a high prevalence of precore and basal core promoter mutations in southern Iran. Although no statistically significant difference was noted in liver enzymes, patients with mutations had igher liver enzymes in comparison with mutation-free patients

    Loeys-Dietz syndrome: A possible solution for Akhenaten’s and his family’s mystery syndrome

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    The presence of a familial disease among royal members of 18th dynasty of the new kingdom who ruled in Egypt from the mid-16th to the early 11th centuries BC has been established, largely prompted by the bizarre body shape of Akhenaten (the iconoclastic pharaoh of this dynasty) and his family, as demonstrated in statues and artwork. It had been thought previously that this was an expression of a revolutionised artistic style that followed radical reforms by Akhenaten of Egyptian society, but recent studies on mummies confirmed the presence of a constellation of corresponding pathologies. Several illnesses have been suggested to solve this enigma; we propose Loeys-Dietz syndrome as a probable diagnosis for this genetic affliction within the royal family

    Single left coronary artery with origin of right coronary artery from left circumflex: a case report

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    which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background: A 40-years-old female presented with intermittent chest pain and dyspnea on exertion. Case Presentation: Electrocardiography showed sinus rhythm with ST-depression in inferior and lateral leads. Subsequent exercise treadmill testing revealed significant ST-depression in V4–V5 and V6 leads. Coronary angiography later showed a single left coronary artery with right coronary artery arising from left circumflex artery, a rare anomaly of coronary arteries. No atheromatous lesion was seen during angiography. Conclusion: The dignosis of this anomaly is importsnt because the symptoms cannot be differentiated from atherosclerotic coronary artery disease. Case presentation A 40-years-old female was admitted to the hospital with intermittent substernal chest pain and dyspnea. She visited our outpatient clinic because of exacerbation o

    European guideline on obesity care in patients with gastrointestinal and liver diseases - Joint ESPEN/UEG guideline

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    BACKGROUND: Patients with chronic gastrointestinal (GI) disease such as inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, gastroesophageal reflux disease (GERD), pancreatitis, and chronic liver disease (CLD) often suffer from obesity because of coincidence (IBD, IBS, celiac disease) or related pathophysiology (GERD, pancreatitis and CLD). It is unclear if such patients need a particular diagnostic and treatment that differs from the needs of lean GI patients. The present guideline addresses this question according to current knowledge and evidence. OBJECTIVE: The objective of the guideline is to give advice to all professionals working in the field of gastroenterology care including physicians, surgeons, dietitians and others how to handle patients with GI disease and obesity. METHODS: The present guideline was developed according to the standard operating procedure for ESPEN guidelines, following the Scottish Intercollegiate Guidelines Network (SIGN) grading system (A, B, 0, and good practice point (GPP)). The procedure included an online voting (Delphi) and a final consensus conference. RESULTS: In 100 recommendations (3x A, 33x B, 24x 0, 40x GPP, all with a consensus grade of 90% or more) care of GI patients with obesity - including sarcopenic obesity - is addressed in a multidisciplinary way. A particular emphasis is on CLD, especially fatty liver disease, since such diseases are closely related to obesity, whereas liver cirrhosis is rather associated with sarcopenic obesity. A special chapter is dedicated to obesity care in patients undergoing bariatric surgery. The guideline focuses on adults, not on children, for whom data are scarce. Whether some of the recommendations apply to children must be left to the judgment of the experienced pediatrician. CONCLUSION: The present guideline offers for the first time evidence-based advice how to care for patients with chronic GI diseases and concomitant obesity, an increasingly frequent constellation in clinical practice

    European guideline on obesity care in patients with gastrointestinal and liver diseases - Joint European Society for Clinical Nutrition and Metabolism / United European Gastroenterology guideline

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    Background Patients with chronic gastrointestinal (GI) disease such as inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, gastroesophageal reflux disease (GERD), pancreatitis, and chronic liver disease (CLD) often suffer from obesity because of coincidence (IBD, IBS, celiac disease) or related pathophysiology (GERD, pancreatitis and CLD). It is unclear if such patients need a particular diagnostic and treatment that differs from the needs of lean GI patients. The present guideline addresses this question according to current knowledge and evidence. Objective The objective of the guideline is to give advice to all professionals working in the field of gastroenterology care including physicians, surgeons, dietitians and others how to handle patients with GI disease and obesity. Methods The present guideline was developed according to the standard operating procedure for European Society for Clinical Nutrition and Metabolism guidelines, following the Scottish Intercollegiate Guidelines Network grading system (A, B, 0, and good practice point [GPP]). The procedure included an online voting (Delphi) and a final consensus conference. Results In 100 recommendations (3x A, 33x B, 24x 0, 40x GPP, all with a consensus grade of 90% or more) care of GI patients with obesity - including sarcopenic obesity - is addressed in a multidisciplinary way. A particular emphasis is on CLD, especially fatty liver disease, since such diseases are closely related to obesity, whereas liver cirrhosis is rather associated with sarcopenic obesity. A special chapter is dedicated to obesity care in patients undergoing bariatric surgery. The guideline focuses on adults, not on children, for whom data are scarce. Whether some of the recommendations apply to children must be left to the judgment of the experienced pediatrician. Conclusion The present guideline offers for the first time evidence-based advice how to care for patients with chronic GI diseases and concomitant obesity, an increasingly frequent constellation in clinical practice
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