Therapeutic Effects of Green Tea on Nonalcoholic Fatty Liver Disease in 10-16-Year-Old Children

Introduction: Nonalcoholic Fatty Liver Disease (NAFLD) is characterised by fat accumulation in the liver. Treatment of NAFLD in children is an important issue but the options are limited. Green tea has antioxidant and anti-hyperlipidemic effects but studies; on the effect of green tea in children are limited. Aim: To investigate effect of green tea on NAFLD in children. Materials and Methods: In this study. 52 children aged 10-16 years with NAFLD were divided into two groups of 26 each: Intervention and control. For both groups, modification of diet and intensification of physical activity were prescribed for three months. Intervention group was also treated with green tea tablets. Sonography and measurements of liver enzymes {Alanine Aminotransferase (ALT) and Aspartate Aminotransferase (AST)}, lipid profile and Body Mass Index (BMI) were conducted before and after the intervention. The data were analysed by the Statistical Package for the Social Sciences (SPSS) version 19.0 using ANCOVA. Results: After treatment with green tea, fatty liver grade decreased significantly in the intervention group compared to control group (p<0.0001). In addition, this treatment caused significant decrease in ALT, AST, and triglyceride levels and significant increase in High-Density Lipoprotein (HDL) level (p<0.05), but Low-Density Lipoprotein (LDL) level did not decrease significantly in the intervention group compared to control. Conclusion: Oral prescription of green tea was effective in improving fatty liver grade, decreasing hepatic fat accumulation and improving liver function, weight loss and reducing ALT and AST without any side effects. These effects can be due to green tea compounds such as polyphenols especially catechin and antioxidant and anti-hyperlipidemic effects. Keywords Author Keywords:Alanine aminotransferase; Aspartate aminotransferase; Green tea extract; Nonalcoholic steatohepatiti

A novel missense mutation in the TGF-β-binding protein-like domain 3 of FBN1 causes Weill–Marchesani syndrome with intellectual disability

Background: Weill–Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant form of the disease occurs due to a mutation in FBN1, and the recessive form results from mutations in ADAMTS10, ADAMTS17, or LTP2 genes. Materials and Methods: The family recruited in this study was a consanguineous Iranian family with an intellectually disabled girl referred to the Sadra Genetics laboratory, Shahrekord, Iran. The clinical history of family members was investigated. Whole-Exome Sequencing (WES) for the proband was performed. Sanger sequencing was used to assess the segregation of candidate variants in the other family members. Results: Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-β-binding protein-like (TB) domain of the FBN1 gene (NM000138: c.2066A>G: (p. Glu689Gly), NP_000129.3, in exon 17 of the gene). Co-segregation analysis with Sanger sequencing confirmed this mutation in the affected members of the pedigree. Conclusion: Our findings represent an autosomal dominant form of specific WMS resulting from a substitution mutation in the FBN1 gene. In addition to the typical manifestations of the disorder, mild intellectual disability (ID) was identified in the 8-year-old proband. Given the fact that ID is primarily reported in ADAMTS10 mutated cases, this family was clinically and genetically a novel case