Objective Herein, we investigated the balance of thiol/disulfide, with the hypothesis that the balance between disulfides and thiols, which are natural antioxidants, might be disrupted in patients with familial hypercholesterolemia, which eventually leads to endothelial damage. Methods In this study, we evaluated 51 patients diagnosed with familial hypercholesterolemia and 81 healthy subjects. Blood samples were taken from the patients after a minimum of 12 hours of fasting; samples were immediately centrifuged, stored in Eppendorf tubes, and preserved at −80°C. Results This study found that thiol levels are significantly lower in patients with familial hypercholesterolemia, whereas disulfide levels are higher (independent of age, gender, and body mass index). This means that in such patients, the thiol/disulfide balance changes in favour of disulfide. Conclusions In this study, we found that the thiol/disulfide balance in patients with familial hypercholesterolemia is disrupted in favour of disulfide.
Aim: This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings. Methods: We enrolled cases diagnosed with FMF with a defined variation in at least one allele. The medical charts of the patients were reviewed retrospectively. The patients were grouped as homozygous, compound heterozygous, and simple heterozygous cases, with and without M694V mutation. We compared the data between the subgroups using logistic regression analysis and determined the risk factors for being homozygous or compound heterozygous for M694V. Results: A total of 263 (M/F =109/154) cases were included. The mean age at the onset of symptoms, follow-up duration, and time to diagnosis were 6.75 ± 3.9 (0.25-17) years, 51.78 ± 39.31 (6-166) months, and 9.23 ± 14.44 (1-132) months, respectively. The rates of parental consanguinity, positive family history for FMF, and FMF in a first-degree relative were 15%, 42%, and 31.4% respectively. The most common symptom was abdominal pain (85%). There was no difference between the growth parameters of the cases during the initial and final control periods. The most frequent alleles were M694V , E148Q , and V726A . The most common accompanying disease was IgA vasculitis (20%). Almost 90% of the cases fulfilled all the defined criteria. The rate of patients having a first-degree relative with FMF was higher, Hb values were lower, and the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were higher during the attack period; the ESR and CRP values were higher in the attack-free period; and Pras disease severity scores were higher in homozygous or compound heterozygous cases carrying M694V . The presence of FMF in a first-degree relative increases the probability of being homozygous and compound heterozygous for M694V by a factor of 2.39; and each 1 unit increase in the Pras score increases this probability by a factor of 1.43. The threshold Pras score for this possibility is 5.5 (AUC = 0.651; 95% CI, 0.545-0.757; P = .006; sensitivity, 65%; specificity, 55%). Conclusion: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores ≥5.5 may predict a homozygous or compound heterozygous mutation for M694V .
Background: Since the emergence and worldwide spread of the new coronavirus (COVID-19) pandemic, it has caused people to experience adverse psychological effects. This study aimed to assess anxiety levels during COVID-19 in children with chronic kidney disease (CKD), including nephrotic syndrome (NS) and kidney transplantation (Tx). Methods: A case-controlled, cross-sectional study was conducted with children aged 10-18 years, who had a diagnosis of CKD or NS, or Tx, and followed in our center between April and July 2020. A healthy control group was recruited with age-and gender-matched children. A questionnaire with printed and online versions was designed in three parts: the first addressed demographic characteristics, the second addressed opinions about the pandemic, and the third was the Turkish version of the Revised Child Anxiety and Depression Scale -Child Version. Results: A total of 88 children completed the questionnaire. The patient and control groups were similar in terms of gender, age, household members and history of psychiatric treatment. Both groups stated that coronavirus is a risky disease for children (63.6%), and that they were afraid of contagion (69.3%). Only half of them were receiving realistic and informative answers from family members. In the Revised Child Anxiety and Depression Scale -Child Version, 66% of them received a high score on at least one subscale. The social phobia scores of the control group were higher than those of the patient group, although the proportion of high scores was similar in both groups. The ratio of high-scored participants was higher in CKD patients for panic disorder, and was lower in the immunosuppressive agent group for social phobia. Conclusion:The current COVID-19 pandemic is a disaster that children encounter for the first time in their lives. It does not exclusively cause anxiety among children with chronic kidney diseases but also affects healthy children.
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