Results Whole exome sequencing revealed a novel missense sequence variant, not seen in around 6800 controls, mapping to exon 8 of the MEFV gene (c.1730C>A; p.T577N), co-segregating perfectly with disease in this family. Other mutations at the same amino acid (c.1730C>G; p.T577S; c.1729A>T; p.T577S) were found in a family of Turkish descent, with autosomal dominant inheritance of FMF-like phenot...

We present a method that combines software model checking with a standard protocol security model to provide meaningful security analysis of protocol implementations in a completely automated manner. Our approach incorporates a standard symbolic attacker model and provides analogous guarantees about protocol implementations as previous work does for protocol specifications. We have implemented ...

Introduction Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be coincidental due to the very high rate of ...

Ultra -high molecular weight polyethylene (UHMWPE) is the current material of choice for bearing surface applications in total joint arthroplasty. In an effort to enhance the wear properties of the material many companies have recently resorted to electron beam and gamma irradiation of the components prior to the machining. It is of considerable interest to accurately determine the dose absorbe...

Introduction PFAPA syndrome is the most common cause of periodic fevers in children. In the clinical setting of children with periodic fever, there are a minority of patients in which to differentiate between PFAPA and monogenic periodic fevers is not immediate. The Gaslini score would provide a useful tool in this setting, calculating the probability to carry a mutation for monogenic periodic ...

Aim: The purpose of this study was to see how folate and + zinc treatment affected endocrine markers sperm properties in sub fertile males. Methods: methodical research addition meta-analysis carried out. From 1969 May 2020, databases were searched by Medline, Scopus, Google scholar, Persian have been examined that used the set pertinent keywords comprising "folate or folic acid AND (infertilit...

The influence of surface charge of nanomaterials on toxicological effects is not yet fully understood. We investigated the inflammatory response, the acute phase response and the genotoxic effect of two different titanium dioxide nanoparticles (TiO2 NPs) following a single intratracheal instillation. NRCWE-001 was unmodified rutile TiO2 with endogenous negative surface charge, whereas NRCWE-002...

The in vitro activity of R 51,211 (itraconazole, accepted generic name; Janssen Pharmaceutica, Beerse, Belgium), a new orally active triazole, was compared with those of two existing orally active azoles, ketoconazole and BAY n 7133, and a topical agent, Ro 14-4767/002. An agar dilution procedure (Kimmig agar) was performed with 148 isolates of pathogenic fungi. Incubation was at 30 degrees C f...

Department of Biochemistry and Biotechnology, Faculty of Science, Annamalai University, Annamalainagar 608 002, Tamilnadu, India