Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever

WOS: 000382833300002PubMed ID: 27225717Introduction. Familial Mediterranean fever (FMF) is a recessively inherited disease which is characterized by recurrent episodic fever, abdominal pain, and polyserositis. It is caused by mutations in the MEFV gene, encoding the pyrin protein. The most important complication of FMF is secondary (AA) amyloidosis that leads to kidney failure. This study aimed to identify the frequency and distribution of MEFV mutations in Turkish patients with FMF-associated AA amyloidosis. Materials and Methods. A total of 57 patients with FMF-associated AA amyloidosis and 60 healthy controls were included in this study. We analyzed the MEFV gene for E148Q, M694V, M680I, and V726A mutations and R202Q variant by polymerase chain reaction and restriction fragment length polymorphism methods. Results. The male-female ratio was 0.72. The mean age of the patients was 29.8 +/- 12.8 years. Among the patients, the rate of the MEFV mutations was found to be 77.2%. The most frequently observed genotype was homozygous M694V mutation, which was present in 17 patients (29.8%, P <.001), followed by compound heterozygous M680I/ M694V (14.3%, P =.01). The R202Q allele frequencies were significantly different between patients and control group (P =.02; odds ratio, 0.53; 95% confidence interval, 0.30 to 0.94). Conclusions. In this study, mutation analysis of MEFV gene confirmed that the most frequent mutation was homozygous M694V genotype. R202Q may be important in patients with FMF-associated AA amyloidosis. Thus, it is suggested that investigation of R202Q should be considered as a genetic test for Turkish FMF patients

Sodium Nitroprusside as a Nitric Oxide Donor in a Rat Intestinal Ischemia-Reperfusion Model

AIM: The aim of this study was to investigate the efficacy of sodium nitroprusside in the reduction of the intestinal ischemiareperfusion injury as a nitric oxide donor after intraperitoneal administration. METHODS: The histopathological examinations and tissue malonyldialdehyde levels of 35 Wistar albino rats that were subjected to ischemia-reperfusion, were performed in 5 groups. The groups include Control, Ischemia -reperfusion, Sodium nitroprusside, NG-Nitro-L-Arginine Methyl Ester (L-NAME) and Sodium nitroprusside+L-NAME. Each rat was subjected to ischemia for 40 minutes and reperfusion for 30 minutes, except the control group. The medications were done intraperitoneally as saline 4 ml/kg, Sodium nitroprusside 5 mg/kg, L-NAME 10 mg/kg just before reperfusions. RESULTS: Significant tissue injury in histological sections and an increase in tissue levels of Malonyldialdehyde was detected in the I/R group. The efficacy of intraperitoneal administration of Sodium nitroprusside in both Sodium nitroprusside alone and Sodium nitroprusside+L-NAME groups was found statistically significant for the reducing of injury scores (p<0.05). The difference between the Ischemia/reperfusion and Sodium nitroprusside groups was found statistically significant as in the Ischemia/reperfusion and Sodium nitroprusside+L-NAME groups due to the tissue Malonyldialdehyde levels (p<0.05). There was no statistical difference between Ischemia/reperfusion and L-NAME groups. CONCLUSION: Ischemia/reperfusion induced injury might be reduced by the intraperitoneal administration of Sodium nitroprusside, even in the presence of L-NAME, in the rat intestinal model

Cardiac thrombi in a patient with protein-C and S deficiencies: a case report

We report a case of multiple mobile intra-cardiac thrombi accompanying recurrent pulmonary embolism that has been successfully treated by fibrinolytic therapy. Control transesophageal echocardiographic examination showed that prolonged thrombolytic treatment completely removed the thrombi. Surgical removal of emboli has been validated but cannot be proposed to all patients since it is a high-risk intervention. Fibrinolysis is generally efficient but exposes the patient to risk of migration of the intra-cavity thrombus, with occasionally deleterious evolution. Systemic thrombolytic therapy is usually recommended if (a) it is not contraindicated and (b) the thrombi are demonstrated in more than one cardiac chamber, entailing a higher risk of surgical intervention. However, the infusion rate and duration of thrombolytic therapy are important determinants of successful and uncomplicated lysis. Low dose and long infusion time should be chosen to avoid fragmentation of the thrombus and related complications. © 2004 Ercan et al; licensee BioMed Central Ltd

Decreased soluble cell adhesion molecules after tirofiban infusion in patients with unstable angina pectoris

AIM: The inflammatory response, initiated by neutrophil and monocyte adhesion to endothelial cells, is important in the pathogenesis of acute coronary syndromes. Platelets play an important role in inflammatory process by interacting with monocytes and neutrophils. In this study, we investigated the effect of tirofiban on the levels of cell adhesion molecules (soluble intercellular adhesion molecule-1, sICAM-1, and vascular cell adhesion molecule-1, sVCAM-1) in patients with unstable angina pectoris (AP). METHODS: Thirty-five patients with unstable AP (Group I), ten patients with stable AP (Group II) and ten subjects who had angiographycally normal coronary arteries (Group III) were included the study. Group I was divided into two subgroups for the specific treatment regimens: Group IA (n = 15) received tirofiban and Group IB (n = 20) did not. Blood samples for investigating the cell adhesion molecules were drawn at zero time (baseline; 0 h) in all patients and at 72 h in Group I. RESULTS: The baseline levels of sICAM-1 and sVCAM-1 were higher in Group I than in Groups II and III. They were higher in Group IA than in Group IB. However, the sICAM-1 and sVCAM-1 levels decreased significantly in Group IA after tirofiban infusion. In contrast, these levels remained unchanged or were increased above the baseline value in Group IB at 72 h. CONCLUSION: The levels of cell adhesion molecules in patients with unstable AP decreased significantly after tirofiban infusion. Inhibition of platelet function by specific glycoprotein IIb/IIIa antagonists may decrease platelet-mediated inflammation and the ischemic end-point

DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo

Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 30 -untranslated region of the DAT1 gene and in exon 3 of the dopamine D4 receptor (DRD4) gene differ among four groups (31 subjects with SCT but no ADHD, 146 individuals with ADHD but no SCT, 67 subjects with SCT + ADHD, and 92 healthy controls). Methods: We compared the sociodemographic profiles, neurocognitive domains, and prevalence of two VNTRs in SCT and ADHD subjects versus typically developing (TD) controls. Results: The SCT without ADHD group had a higher proportion of females and lower parental educational attainment. Subjects in this group performed worse on neuropsychological tests, except for psychomotor speed and commission errors, compared to controls. However, the ADHD without SCT group performed significantly worse on all neuropsychological domains than controls. We found that 4R homozygosity for the DRD4 gene was most prevalent in the ADHD without SCT group. The SCT without ADHD group had the highest 7R allele frequency, differing significantly from the ADHD without SCT group. Conclusion: The 7R allele of DRD4 gene was found to be significantly more prevalent in SCT cases than in ADHD cases. No substantial neuropsychological differences were found between SCT and ADHD subjects

Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Performance analysis of electrical flight control actuation system in a commercial transport aircraft

Purpose In more than 100 years of aviation, significant progress has been made in flight control systems. The aircrafts that have entered service for the past ten years tend towards power-by-wire flight control with electrical actuators. The purpose of this study is to analyse the effects of electrical actuation on power consumption, weight and fuel consumption on a commercial transport aircraft. Design/methodology/approach The Airbus A321-200 aircraft was chosen as a case study for analysing the effects of electrical actuation on the flight control actuation system (FCAS) architecture, and Pacelab SysArc software was used for design, modelling and analysis. As alternatives to the existing system, hybrid and all-electric models are built to a set of design guidelines with certain limitations. Findings Compared to the existing FCAS architecture model, 80 kg weight savings in the hybrid FCAS architecture model and 171 kg weight savings in the all-electric FCAS architecture model were observed. In terms of fuel consumption, it has been observed that there is 0.25% fuel savings in the hybrid FCAS architecture model, and 0.48% fuel savings in the all-electric FCAS architecture model compared to the existing FCAS architecture model at 3200 NM. Practical implications In line with the data obtained from this study, it is predicted that electrical actuation is more preferable in aircraft, considering its positive effects on weight and fuel consumption. Originality/value In this study, three different models were created: the existing FCAS architecture of a commercial transport aircraft, the hybrid FCAS architecture and the all-electric FCAS architecture. Hybrid and all-electric models are built according to a set of design guidelines, with certain limitations. Then, similar flight missions consisting of the same flight conditions are defined to analyse the effects of power consumption, weight, and fuel consumption comparatively