Do MEFV mutations influence arterial stiffness in FMF patients?

Background: Pulse wave velocity (PWV) is the most used technique to evaluate the arterial elasticity, which is an early indicator of atherosclerosis. We aimed to evaluate if MEFV Mutations influence arterial stiffness in patients with Familial Mediterranean fever (FMF) Methods: 70 patients diagnosed with FMF and 50 age-and sex-matched controls were included in the study. Genetic analysis of the patients was performed. After the measurement of PWV; the presence of AS was determined. Results: Mean PWV value and arterial stiffness frequency of FMF patients were significantly higher than the control group (p <0.001, p <0.001) respectively. In addition, FMF patients with M694Vmutations had higher PWV values and arterial stiffness frequency than those with other mutations. (p=0.045), (p=0.001). There were no differences within all genetic mutation types in terms of arterial stiffness frequency.Conclusions: As a result, due to subclinical inflammation in FMF patients, they have risk for cardiovascular complications. These patients especially those with M694Vmutations have to be followed more closely because of increased cardiovascular risk and PWV measurements may be a good tool to detect early development of atherosclerosis.

In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency (OTCD) is the most common X-linked hereditary disorder of urea cycle disorders that is caused by neonatal hyperammonemia. OTC gene sequence variations are common causes of OTCD. The current study presents a 28-month-old baby girl proband with phenotypical characteristics of OTCD such as irritability, somnolence, intermittent vomiting, and high levels of serum ammonium. Whole-exome sequencing revealed a de novo c.275G > A p. (Arg92Gln) variant within the OTC gene. In silico analysis revealed a possible differential affinity between wild-type and mutant OTCase, while Arg92Gln decreases the binding ability of OTCase to the substrate, which can disrupt the urea cycle and explains the molecular pathogenicity of clinical hyper-ammonemia. In light of the fact that the genotype and phenotype correlation of OTCD is still uncertain, the present in silico analysis outcome can enhance our knowledge on this complicated, rare, and severe genetic disorder

No relationship between osteoprotegerin concentrations and endothelial dysfunction in non-obese women with and without polycystic ovary syndrome

To investigate the relationships of osteoprotegerin (OPG) concentrations to brachial artery flow-mediated vasodilation (FMD) and the carotid artery intima media thickness (CIMT) in polycystic ovary syndrome (PCOS)

The serum protein α2-Heremans-Schmid glycoprotein/fetuin-a concentration and carotid intima-media thickness in women with polycystic ovary syndrome

Objective: To investigate fetuin-A concentrations and its association with metabolic and sonographic cardiovascular markers in women with polycystic ovary syndrome (PCOS) and healthy subjects

The serum protein alpha 2-Heremans-Schmid glycoprotein/fetuin-a concentration and carotid intima-media thickness in women with polycystic ovary syndrome

Objective: To investigate fetuin-A concentrations and its association with metabolic and sonographic cardiovascular markers in women with polycystic ovary syndrome (PCOS) and healthy subjects

Is there a safer electrosurgical current for endoscopic sphincterotomy in patients with liver cirrhosis?

Endoscopic sphincterotomy bleeding is less frequently observed in patients with cirrhosis who underwent sphincterotomy with alternating mixed current in the pulse cut mode compared with those with blended current

The Prevalence of Barrett Esophagus Diagnosed in the Second Endoscopy A Retrospective, Observational Study at a Tertiary Center

Our study showed that in patients receiving no diagnosis of BE on their first endoscopic examination performed for any reason, the prevalence of BE on their second endoscopy within 6 years was very low (0.66%)

Prevalence of advanced histologic features in diminutive colon polyps

Conclusions : The prevalence of advanced histology in diminutive polyps is quite low (1.3%) which supports the clinical implementation of discard, resect and discard strategies in diminutive polyps