Thoracoscopic enucleation of esophageal leiomyoma in patient with men I syndrome

Minimal invasive thoracic surgery is growing rapidly and may become the standard of care for certain diseases. Its benefits over traditional surgery, including reduced morbidities and hospital stay, have been well established in several reports. We herein report a case of midesophageal leiomyoma in a patient with MEN I syndrome successfully enucleated by thoracoscopy highlighting the technical details of the procedure

The effect of UGT1A1 promoter polymorphism in the development of hyperbilirubinemia and cholelithiasis in hemoglobinopathy patients.

Present study was aimed to explore the effect of (TA)n UGT1A1 gene promoter polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in Sickle-Cell Anemia (SCA) and beta-Thalasemia major (bTH) in Kuwaiti subjects compared to other population. This polymorphism was analyzed and correlated to total bilirubin and cholelithiasis in 270 age, gender, ethnically matched subjects (92 bTH, 116 SCA and 62 Controls) using PCR, dHPLC, fragment analysis and direct sequencing. Four genotypes of UGT1A1 were detected in this study (TA6/6, TA6/7, TA6/8 and TA7/7). (TA)6/8 was found only in four individuals; hence it was not included in the analysis. There was a statistically significant association of genotypes with serum total bilirubin levels in both bTH and SCA groups (p<0.001). Subjects with (TA)7/7 had the highest total serum bilirubin level (178.7 ± 3.5 µmole/l). A significant association was observed between allele (TA)7 and cholelithiasis development (p = 0.0001). The 40%, 67.5% and 100% of SCA with (TA)6/6, (TA)6/7 and (TA)7/7 respectively developed cholelithiasis and were subsequently cholecystectomized. Our results confirm UGT1A1 (TA)7 allele as one of the factors accounting for the hyperbilirubinemia and cholelithiasis observed in SCA and bTH

Thoracoscopic enucleation of esophageal leiomyoma in patient with MEN I syndrome

Minimal invasive thoracic surgery is growing rapidly and may become the standard of care for certain diseases. Its benefits over traditional surgery, including reduced morbidities and hospital stay, have been well established in several reports. We herein report a case of midesophageal leiomyoma in a patient with MEN I syndrome successfully enucleated by thoracoscopy highlighting the technical details of the procedure

Bilirubin levels ( µmol/L) in SCA patients with and without gallstone disease.

<p>Bilirubin levels ( µmol/L) in SCA patients with and without gallstone disease.</p

Allele and genotype frequencies of <i>UGT1A1</i> promoter polymorphism in SCA diagnosed with or without gall stone.

<p>Allele and genotype frequencies of <i>UGT1A1</i> promoter polymorphism in SCA diagnosed with or without gall stone.</p

Characteristics of study subjects.

<p>Characteristics of study subjects.</p

Global distribution of the <i>UGT1A1</i> promoter TATA box polymorphism.

<p>Global distribution of the <i>UGT1A1</i> promoter TATA box polymorphism.</p

Allele and genotype frequencies of <i>UGT1A1</i> promoter <i>polymorphism</i> in β-Thalassemia, Sickle Cell Anemia and Healthy Controls (# total Bilirubin measured in µmol/L).

<p>Allele and genotype frequencies of <i>UGT1A1</i> promoter <i>polymorphism</i> in β-Thalassemia, Sickle Cell Anemia and Healthy Controls (# total Bilirubin measured in µmol/L).</p

Analysis of <i>UGT1A1</i> promoter polymorphism in SCA and bTH subjects using logistic regression.

<p>Analysis of <i>UGT1A1</i> promoter polymorphism in SCA and bTH subjects using logistic regression.</p