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

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis

Continuous EEG Monitoring in Critically Ill Children and Prognostic Factors for Short-term Outcome: An Observational Study

Aim: To evaluate the association of etiology, continuous electroencephalography (cEEG) findings and neuroimaging findings with short-term outcomes for patients admitted to a pediatric intensive care unit (PICU) for acute encephalopathy. Materials and Methods: A total of 24 children admitted to a PICU for acute encephalopathy were enrolled into this study. The etiology, treatment, duration of stay in the PICU, their demographic information and their past medical history were recorded. cEEG was initiated as quickly as possible following admission to the PICU and continued for at least 24 hours. Their short-term prognosis was evaluated by the Pediatric Cerebral Performance Category score (PCPC) at PICU discharge. Results: The most common cause was traumatic brain injury comprising 25% (n=6) of all cases. Other common causes were asphyxia (hanging, foreign body aspiration, drowning) (n=4, 16.67%) and intoxication (n=3, 12.5%). Twenty-two patients underwent cranial imaging. The most common findings in CT were hemorrhage (n=6, 30%) and ischemia/edema (n=6, 30%). Fourteen patients had unfavorable PCPC outcome scores. There was a tendency for poorer outcomes in those patients with hemorrhage/fracture or ischemia/edema in the imaging and for those patients who needed either pre-hospital CPR or had non-convulsive seizures but without statistical significance. Conclusion: cEEG in critically ill children is useful for detecting both epileptic and non-epileptic events. The use of cEEG in PICUs can be helpful for the better management of cases

Cerebral sinovenous thrombosis in children: A single-center experience

Objective: The study aimed to evaluate the patients with a diagnosis of cerebral sinovenous thrombosis in terms of clinical findings, etiology and underlying risk factors, imaging findings, treatment, and prognosis in the long term. Materials and Methods: Medical records of 19 patients whose ages ranged between 0 days and 17 years with clinical and radiological cerebral sinovenous thrombosis in Ege University Department of Child Neurology were retrospectively evaluated. Results: Nine of nineteen cases were female (47.3%). The median age was 84 months (0-201 months). The most common complaint at the presentation was headache (n=12) and the most common physical examination finding was papilledema (n=11). In etiology, otitis/mastoiditis in three cases, iron deficiency anemia in three cases, sinusitis in two cases, catheter use in four cases, Behcet's disease in three cases were determined. The most common observed genetic factors causing thrombosis was methylenetetrahydrofolate reductase mutation. The transverse sinus (68.4%) is the sinus where thrombosis is most frequently observed. As a result of an average follow-up of 12 months (2-72 months), hemiparesis (n=3/19, 15.7%) and epilepsy (n=5/19, 26.3%) were recorded as sequelae findings, and no mortality was observed. Conclusion: In cases presenting with headache, evaluation of papilledema on funduscopic examination should not be skipped. Neurological imaging should be performed in the change of consciousness of poor feeding infants and children with infections in the head and neck area or underlying chronic diseases. When cerebral sinovenous thrombosis is detected, anticoagulant therapy should be started immediately

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)

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

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)