Evaluation of the current disease severity scores in paediatric FMF: Is it necessary to develop a new one?

Objectives: Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease.Methods. Two hundred and fifty-eight children with FMF were cross-sectionally studied. Assessment of the disease severity was performed by using the modified scoring systems of Mor et al. and Pras et al. Genetic analysis was performed using PCR and restriction endonuclease digestion methods for the presence of 15 FMF gene mutations. FMF mutations were grouped into three based on well-known genotypic-phenotypic associations. Correlation between the mutation groups and the severity scoring systems was assessed. The consistency of the severity scoring systems was evaluated.Results. The results of two scoring systems were not statistically consistent with each other (κ = 0.171). This inconsistency persisted even in a more homogeneous subgroup of patients with only homozygote mutations of M694V, M680I and M694I (κ = 0.125). There was no correlation between the mutation groups and either of the scoring systems (P = 0.002, r = 0,196 for scoring systems of Mor et al.; P = 0.009, r = 0.162 for Pras et al.).Conclusions. The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry. © The Author 2011. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved

Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia

PubMe

Comparison of the efficacy of once- and twice-daily colchicine dosage in pediatric patients with familial Mediterranean fever - a randomized controlled noninferiority trial

Background: In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods: In this 24-week, multicenter, randomized controlled noninferiority trial, pediatric patients newly diagnosed with FMF carrying a homozygous or compound heterozygous mutation and not receiving any treatment were included. Patients were randomly assigned using a block randomization method to receive treatment with a once- or twice-daily dosage. Clinical and laboratory characteristics and medication side effects were recorded and compared between groups. The study was carried out in compliance with Good Clinical Practice and the Consolidated Standards for Reporting of Trials (CONSORT) statement. Results: A total of 92 patients were selected, and 79 patients completed the study. There were 42 patients in the once-daily dosage group and 37 in the twice-daily dosage group. The results indicated that the once-daily dosage was not inferior to the twice-daily dosage regarding decrease in attack frequency and duration as well as improvement in clinical findings and Mor severity scores. Alterations in laboratory findings indicating inflammation, such as erythrocyte sedimentation rate, C-reactive protein, and serum amyloid A, were similar in both groups. The rates of drug side effects were similar between the once- and twice-daily dosage groups, implying comparable safety of colchicine, with the exception of diarrhea, which was slightly higher in the once-daily dosage group. Conclusions: Using colchicine with either a once- or twice-daily dosage provides similar clinical and laboratory improvements. Considering both efficacy and safety, colchicine can be prescribed with a once-daily dosage. Trial Registration ID: ClinicalTrials.gov identifier NCT02602028. Registered 5 November 2015

Inspection of endothelial nitric oxide synthase gene polymorphism in patients with henoch schönlein purpura

Objectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schönlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P TT0.001, PGG0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease

How To Manage Intrauterine Growth Restriction Associated With Severe Preeclampsia At 28-34 Weeks Of Gestation?

Aim: To propose optimal management of intrauterine growth restriction (IUGR) cases associated with severe preeclampsia at 28-34 weeks of gestation. Methods: Two hundred pregnant women with severe preeclampsia associated with growth restricted fetuses were followed with doppler velocimetry of umbilical artery between 28-34 weeks of pregnancy. Patients were grouped according to indications for termination of pregnancy, first group consisted of severely affected doppler velocity waveforms (n:100) and the second group consisted of those whose cardiotocography and biophysic profile were unfavorable (n:100). Groups were compared according to perinatal outcomes (cesarean rates, gestational age at delivery, birth weight, Apgar scores and demand for intubation and perinatal deaths). Results: The diagnosis to delivery interval is significantly higher in the second group (p<0.05), whereas there was no significant difference between groups regarding gestational age at delivery and parity (p>0.05). Apgar scores were lower in the first group (p<0.05), and there was increased demand for intubation. Perinatal deaths were also lower in the second group (p<0.05). Cesarean rate was significantly lower compared with first group (p<0.05). Conclusion: Assessment of doppler velocimetry alone may not be enough at decision for termination of pregnancy, biophysic profile and cardiotocography should be added to confirm exact time for delivery of a premature fetus and to improve perinatal outcomes

Retrospective Evaluation of Patients Admitted to the Pediatric Emergency Department with Intoxication

Introduction: In this study, we aimed to retrospectively analyze the demographic and epidemiologic features, clinical course, laboratory results and prognoses of the patients admitted to the department of pediatric emergency due to poisoning. Methods: This trial enrolled a total of 430 patients aged 1 month to 18 years. The medical data of the patients were reviewed retrospectively according to patient's medical record. Demographic data such as age, sex, time of occurrence, time of patient presentation to the emergency department, time to first medical intervention after taking the drug, cause of poisoning, received active substances, ways of taking, number of active substances received, and symptoms at admission to the hospital were analyzed. Results: The study population consisted of 0.74% of all patients who were admitted to the department of pediatric emergency. 243 (56.5%) patients were female and 187 (43.5%) were male. The age of the patients ranged from 4 months to 220 months (72.89±66.38). One hundred-thirteen (26.3%) of our patients were referred to our hospital in the summer, 111 (25.8%) in the spring, 110 (25.6%) in the autumn and 96 (22.3%) in the winter. Eighteen patients were admitted to our emergency department with poisoning in 2014, 193 in 2015, 178 in 2016 and 41 in 2017. 12.3% of our patients were referred to our emergency department between hours 00:00 and 08:00, 35.1% between 08:00 and 16:00 and 52.6% between 16:00 and 24:00. Ninety-six of the patients were admitted to our emergency department due to suicidal poisoning and 334 due to accidental poisoning. Nausea was present at the time of presentation in 142 (33.02%) of our patients, vomiting in 122 (28.37%) and dizziness in 102 (23.72%). Conclusion: We believe that determination of the epidemiological features of the poisonings in our country by large scale studies and public consciousness will contribute significantly to the prevention of childhood poisoning

Chronic kidney disease in children in Turkey

To determine the incidence, etiology and treatment patterns of chronic kidney disease (CKD) in children a questionnaire was sent to pediatric nephrology centers in Turkey, asking them to report patients under the age of 19 years who had estimated glomerular filtration rates (GFRs) of a parts per thousand currency sign75 ml/min per 1.73 m(2) body surface area, diagnosed in 2005. Twenty-nine centers reported 282 patients (123 female/159 male; mean age 8.05 +/- 5.25 years). Urological problems such as vesicoureteral reflux (18.5%), obstructive uropathy (10.7%) and neurogenic bladder (15.1%) were the leading causes of CKD. The majority of the patients were in stage V (32.5%), IV (29.8%) or III (25.8%). Growth retardation (49.6%) and secondary hyperparathyroidism (72.4%) were very frequent. The GFR levels correlated positively with hemoglobin/hematocrit and calcium levels and negatively with phosphorus and parathyroid hormone (PTH) levels (P < 0.05). Renal replacement therapies were initiated in 35.8% of the patients, peritoneal dialysis in 23%, hemodialysis in 10.6% and transplantation in 2.2%. This was the first multi-center, epidemiologic study done in children with CKD in Turkey. The most striking result was the predominance of vesicoureteral reflux (VUR) or related urological problems as the underlying causes of CKD. Thus, early diagnosis and treatment of these conditions are of vital importance to decrease the incidence of CKD in children