Methods The HRF panel includes MEFV, MVK, NLRP3, TNFRSF1A, PSTPIP1, LPIN2 and ELANE, which are associated with familial Mediterranean fever (FMF), hyper-IgD syndrome, cryopyrin-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), pyogenic sterile arthritis-pyoderma gangrenosum and acne syndrome, Majeed syndrome, and cyclic/severe congenital neutrope...

Introduction Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amy...

Haematological and biochemical aspects of a new family with heterozygous Hb O Padova [alpha 30(B11) Glu----Lys] is described. This variant has been found on a screening programme of abnormal haemoglobin in cord blood. It was separated by cellulose acetate, isoelectric focusing, citrate agar, DEAE-cellulose chromatography and by cation exchange high-performance liquid chromatography. The heat st...

INTRODUCTION Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area. AIM The aim...

Familial Mediterranean fever (FMF) is an autosomal, recessive disease affecting mainly people of Mediterranean origin. The primary pattern of FMF is acute, self-resolving periodic attacks of high-grade fever, accompanied by either peritonitis, pleuritis, or arthritis and sometimes typical ankle rash that simulates erysipelas. Rare manifestations, such as pericarditis or massive knee effusion, h...

Emergent diseases may alter the structure and functioning of ecosystems by creating new biotic interactions and modifying existing ones, producing cascading processes along trophic webs. Recently, a new variant of the rabbit haemorrhagic disease virus (RHDV2 or RHDVb) arguably caused widespread declines in a keystone prey in Mediterranean ecosystems - the European rabbit (Oryctolagus cuniculus)...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme defect and an important problem in areas with Plasmodium vivax infection because of the risk of haemolysis following administration of primaquine to treat the liver forms of the parasite. We undertook a genotypic survey of 713 male individuals across nine provinces of Afghanistan in which malaria is found, four in ...

Background: Familial Mediterranean fever (FMF) is one of the prototypes auto inflammatory diseases. Besides recurrent serositis, some patients also have musculoskeletal involvement similar to spondyloarthropathies (SpA) (1). These usually more severe disease (2). In addition, experts think FMF can be considered a variant SpA. Objectives: There handful studies in literature that evaluated severi...

Hepatitis B is a serious disease that is endemic in many parts of the world. A significant proportion of patients with chronic hepatitis B (CHB) are infected with a variant form of the hepatitis B virus (HBV) which decreases or abolishes the production of hepatitis B e-antigen (HBeAg). The purpose of this literature review is to describe the epidemiology of HBeAg-negative CHB (e-CHB) worldwide....

Human skin fibroblasts isolated in vitro from subjects carrying the Mediterranean variant of glucose-6-phosphate dehydrogenase exhibit an 85% decrease of this enzymatic activity. There is a 26% and a 94% decrease of the hexose monophosphate shunt and of the reduced nicotinamide adenine dinucleotide phosphate/nicotinamide adenine dinucleotide phosphate ratio, respectively. Incubation with 0.1 mM...