Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with a number of mutations of the MEFV gene. To date 246 variants responsible for the disease were identified, one such a variant is E148Q in exon 2. The role of E148Q variant in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of ...

BACKGROUND Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is t...

A patient with erythroleukemia and heterozygous for the Mediterranean variant of the X-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) was studied to determine the number and type of progenitor cells in which the disease arose. G6PD mosaicism was assessed by the different rate of utilization of 2-deoxy-glucose-6-phosphate (2dG6P) by normal and Mediterranean variants of G6PD. Erythroleuke...

Two patients with acute monocytic leukemia and heterozygous for the Mediterranean variant of the X-linked enzyme, glucose-6-phosphate dehydrogenase (G6PD), were investigated to determine the number and type of progenitor cells involved. Mosaicism for Mediterranean G6PD was assessed by the different rate of utilization of 2-deoxy glucose-6-phosphate (2dG6P) by normal and Mediterranean variants o...

LETTER TO ETITOR G6PD (Glucose-6-Phosphate Dehydrogenase) enzyme deficiency is the most common inherited enzyme deficiency so far reported. 1 This enzyme deficiency affects 400 million people worldwide. 2 Most cases of the disease are from tropical regions of Africa, the Middle East, tropical and subtropical regions of Asia and the Mediterranean margin, arise from the process of natural selecti...

BACKGROUND/AIMS The traditional Mediterranean diet is frequently being considered as a prototype for dietary recommendations. We have investigated a weekly menu typical of the Greek variant of the Mediterranean diet to examine the compatibility with the nutritional recommendations of the Scientific Committee for Food of the European Commission, concerning macronutrients and certain micronutrien...

Glucose-6-phosphate dehydrogenase (G6PD) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of NADPH. In the present study we have analyzed the G6PD gene mutations in 76 patients with a history of favism in Khorasan province in Iran. DNA samples were analyzed for...

STUDY QUESTION Is there an association between polycystic ovary syndrome (PCOS) and the sex hormone-binding globulin (SHBG) rs1799941, rs6257, rs6259 and rs727428 variants in a large series of Mediterranean women? SUMMARY ANSWER The rs727428 and rs6259 variants are associated with PCOS in Mediterranean women. WHAT IS KNOWN ALREADY The level of SHBG, the primary plasma transport protein for ...

The fibrolamellar variant of hepatocellular carcinoma (HCC) is an uncommon tumour with distinctive clinical and histological features. Although the first case of fibrolamellar hepatocellular carcinoma (FI-HCC) was described by Edmondson in 1956, and later confirmed in five patients by Peters, the majority of reports followed those of Berman et al. and Craig et al. A case of FI-HCC, which is rar...

OBJECTIVE To evaluate the G6PD(C563T) Mediterranean mutation among Jordanian females who were admitted to Princess Rahma Teaching Hospital (PRTH) with/or previous history of favism. STUDY DESIGN A descriptive study. PLACE AND DURATION OF STUDY Jordanian University of Science and Technology and PRTH, from October 2003 to October 2004. METHODOLOGY After obtaining approval from the Ethics Co...