A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients

Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip® Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A—9.70%. Consequently, we determined that R761H (n?=?23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations.     

Arch-first technique via clamshell incision: successful surgical reoperation for aortic arch dissection

We report a case of successful reoperation for aortic arch dissection with use of the "arch-first" technique in a patient who had Marfan syndrome. Extracorporeal circulation was initiated via right subclavian artery cannulation, and the chest was entered through a clamshell incision for the best exposure. When the patient was cooled to 18 degrees C, the perfusion was stopped. After the 1st aortic arch anastomosis to a 30-mm Dacron graft, cerebral perfusion was reestablished via the right subclavian artery. The aortic repair was then completed. The cerebral ischemic time was 18 minutes, the aortic cross-clamp time was 69 minutes, and the total extracorporeal circulation time was 334 minutes. The patient was discharged from the hospital on postoperative day 10 with no neurologic impairment. The arch-first technique shortens the duration of brain ischemia. When combined with a clamshell incision, the technique is particularly helpful for reoperation of the aortic arch and thoracic aorta.     

Atrial fibrillation and risk of clinical events in chronic heart failure with and without left ventricular systolic dysfunction: results from the Candesartan in Heart failure-Assessment of Reduction in Mortality and morbidity (CHARM) program.

OBJECTIVES: We assessed the risk of adverse cardiovascular (CV) outcomes associated with atrial fibrillation (AF) in the Candesartan in Heart failure-Assessment of Reduction in Mortality and morbidity (CHARM) program, which enrolled patients with chronic heart failure (CHF) and a broad range of ejection fractions (EFs). BACKGROUND: Atrial fibrillation is associated with an increased risk of adverse CV outcomes in patients with CHF and reduced EF. The risk of AF in patients with CHF and preserved left ventricular ejection fraction (PEF) is unknown. METHODS: A total of 7,599 patients with symptomatic CHF were randomized to candesartan or placebo. Patients were divided by baseline EF (< or =40% or >40%) in low or preserved EF groups. Major outcomes were cardiovascular death or hospitalization for worsening heart failure, and all-cause mortality. Median follow-up was 37.7 months. RESULTS: A total of 670 (17%) patients in the low EF group and 478 (19%) in the PEF group had AF at baseline. Atrial fibrillation predicted a high risk of cardiovascular morbidity and mortality regardless of baseline EF. Patients with AF and low EF had the highest absolute risk for adverse CV outcomes. However, AF was associated with greater relative increased risk of the major outcomes in patients with PEF than in patients with low EF: hazard ratio 1.72 (95% confidence interval [CI] 1.45 to 2.06) versus 1.29 (95% CI 1.14 to 1.46), respectively. The same was true for the risk of all-cause mortality. Candesartan was associated with similar treatment effects regardless of baseline rhythm. CONCLUSIONS: Atrial fibrillation is associated with an increased risk of CV outcomes in patients with CHF and either reduced EF or PEF. Candesartan improved outcomes similarly regardless of baseline rhythm.     

Diagnostic value of screening tests in subgroups of women with recurrent pregnancy loss

Objective: To evaluate the diagnostic value of screening laboratory tests in women who had recurrent pregnancy loss (RPL).

Methods: A total of 252 women with RPL managed in our tertiary referral research and education hospital were included in the study. Risk factors recorded involved age, gravidity, parity, number of prior live births, number of pregnancy losses, and thrombophlia tests. The cases were divided into three different groups and each group was analyzed separately.

Results: There was no statistically significant difference between the first and second groups in terms of clinical and laboratory parameters (p?>?0.05). In the third group, there was a statistically significant difference among cases in terms of parity, gravidity, number of pregnancy losses, serum AT III levels, APCR, and age of the women. According to the logistic regression model, odds ratios (95% CI) were 6.116 (3.797–9.852), 5.665 (2.657–12.079), 4.763 (3.099–7.321), 4.729 (3.080–7.260), 2.820 (1.836–4.333), and 1.911 (1.232–2.965), respectively.

Conclusions: We do not recommend the screening of all women with RPL, but in women with high parity and those who had prior live birth pregnancies, increased AT III, and APCR may be diagnostic markers for subsequent pregnancy loss.     

Emotional intelligence and leadership traits among family physicians

Objectives: High emotional intelligence and leadership traits are essential for physicians in managing their responsibilities and thus building successful interactions with patients. This study explored the relationship between emotional intelligence and leadership traits among family physicians.

Methods: Participants (2975 men, 972 women, mean = 42.0 ages, SD = 7.47) were family physicians working at family health-care centers across the seven geographical regions of Turkey who were contacted by e-mail. The Trait Emotional Intelligence Questionnaire (TEIQue) and Leadership Traits Tool were used to collect data. Data were analyzed concerning physicians’ sex, age, health-care experience, and geographical region. The correlation between Trait Emotional Intelligence (TEI) and leadership was also being examined.

Results: Our findings suggest that family physicians’ TEI differs based on sex, age, health-care experience, and the geographical region where they work. Women had higher mean values than did men for well-being, emotionality, and global TEI. Physicians aged younger than 29 years had the lowest mean values for emotional intelligence. As physicians’ health-care experience increased, they received higher scores for emotional intelligence. Physicians working in the Mediterranean had the highest mean TEI scores. There was a positive correlation between family physicians’ emotional intelligence and leadership traits. Higher emotional intelligence was correlated with increased leadership traits.

Conclusion: Emotional intelligence and leadership traits play crucial roles in increasing physicians’ personal and professional development. This may also increase physicians’ caregiving competencies and thus the quality of health services, as well as potentially decreasing physicians’ burnout and health-related costs.     

Neuroprotective effect of edaravone in experimental glaucoma model in rats: a immunofluorescence and biochemical analysis

AIM: To evaluate the neuroprotective activity of systemically administered edaravone in early and late stage of experimental glaucoma in rats. METHODS: In this study, 60 Wistar albino rats were used. Experimental glaucoma model was created by injecting hyaluronic acid to the anterior chamber once a week for 6wk in 46 of 60 subjects. Fourteen subjects without any medication were included as control group. Edaravone administered intraperitoneally 3 mg/kg/d to the 15 of 30 subjects starting at the onset of glaucoma induction and also administered intraperitoneally 3 mg/kg/d to the other 15 subjects starting at three weeks after the onset of glaucoma induction. The other 16 subjects who underwent glaucoma induction was administered any therapy. Retinal ganglion cells (RGCs) have been marked with dextran tetramethylrhodamine (DTMR) retrograde at the end of the sixth week and after 48h, subjects were sacrificed by the method of cardiac perfusion. Alive RGC density was assessed in the whole-mount retina. Whole-mount retinal tissues homogenized and nitric oxide (NO), malondialdehyde (MDA) and total antioxidant capacity (TAC) values were measured biochemically. RESULTS: RGCs counted with Image-Pro Plus program, in the treatment group were found to be statistically significantly protected, compared to the glaucoma group (Bonferroni, P<0.05). The neuroprotective activity of edaravone was found to be more influential by administration at the start of the glaucoma process. Statistically significant lower NO levels were determined in the glaucoma group comparing treatment groups (Bonferroni, P<0.05). MDA levels were found to be highest in untreated glaucoma group, TAC levels were found to be lower in the glaucoma induction groups than the control group (Bonferroni, P<0.05). CONCLUSION: Systemic administration of Edaravone in experimental glaucoma showed potent neuroprotective activity. The role of oxidative stress causing RGC damage in glaucoma was supported by this study results.     

Clinical features and outcomes of 76 patients with COVID-19-related multi-system inflammatory syndrome in children

Clinical Rheumatology - Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding...     

Clinical characteristics of pulmonary artery involvement in patients with Behçet’s syndrome: single-centre experience of 61 patients

Clinical Rheumatology - To report the clinical characteristics of pulmonary artery involvement (PAI) in patients with Behçet’s syndrome (BS) and to define the predictors of relapses. We...