Concurrent protracted febrile myalgia syndrome in a child with diabetic ketoacidosis

Familial Mediterranean Fever (FMF), characterized by recurrent attacks of inflammation in predominantly serosal and synovial membranes, is caused by MEFV gene mutations resulting in abnormal pyrin. Protracted febrile myalgia syndrome (PFMS), a kind of vasculitis requiring corticosteroid treatment, is associated with M694V mutation of MEFV gene. Here, we report a case where the patient developed PFMS leading to the diagnosis of FMF concurrently at the time of treatment for diabetic ketoacidosis (DKA) of new-onset type 1 diabetes mellitus and discuss the possible mechanisms of simultaneous DKA and FMF-associated PFMS. DKA-associated cytokine release may be a predisposing factor or trigger for FMF-associated PFMS

Restless leg syndrome in children with celiac disease

Celiac disease (CD) is an immune-mediated enteropathy triggered by ingestion of dietary gluten in genetically predisposed individuals. The aim of the study was to determine the prevalence of restless leg syndrome (RLS) in children with CD and to investigate the associated factors for RLS. Totally 494 children with the ages ranging between 11-18 years were included. Among those, 226 were under follow-up with CD and constituted the study group while other 268 children did not have any symptoms or signs associated with CD and established the control group. The demographic data, educational status and routine laboratory data of children including complete blood count, ferritin, vitamin B12, foliate and 25 (OH) vitamin D levels were recorded. The RLS prevalence and associated symptoms of children were defined with a questionnaire. There was no statistically significant difference between the 2 groups regarding the age and gender. Moreover, RLS prevalence was also similar in both groups (3.5% vs 3.0% in CD and control groups, respectively, p=0.98). However, interestingly, in CD group, the mean age of the patients at the onset of RLS symptoms was statistically significantly younger (p=0.02) and the disease was more severe (p=0.026) than the control group. In correlation analysis in CD group, the RLS severity significantly negatively correlated with serum ferritin, folic acid or 25 (OH) vitamin D levels in Celiac disease group. In this study we did not determine an increased prevalence of RLS in children with CD. However, in CD group, the age at the onset of RLS symptoms was significantly younger and the disease was more severe in CD group compared with the control cases

Expression Patterns of Micro-RNAs 146a, 181a, and 155 in Subacute Sclerosing Panencephalitis

Subacute sclerosing panencephalitis is caused by persistent brain infection of mutated virus, showing inflammation, neurodegeneration, and demyelination. Although many factors are emphasized in the pathogenesis of subacute sclerosing panencephalitis, the exact mechanism of neurodegeneration remains unknown. Micro-RNAs are small, noncoding RNAs that regulate gene expression at the posttranscriptional levels. Micro-RNAs are essential for normal immune system development; besides they are also implicated in the pathogenesis of many chronic inflammatory disorders. The aim of this study is to investigate the expression patterns of micro-RNAs 146a, 181a, and 155 in peripheral blood mononuclear cells of patients with subacute sclerosing panencephalitis. We enrolled 39 patients with subacute sclerosing panencephalitis and 41 healthy controls. Quantitative analysis of micro-RNAs 146a, 181a, and 155 were performed using specific stem-loop primers followed by real-time polymerase chain reaction. All of 3 micro-RNAs were upregulated in subacute sclerosing panencephalitis patients. In addition, the level of micro-RNA 155 expression was higher in stage 3 patients. But, micro-RNA 146a and 181a expression levels showed no association or correlation with clinically relevant data. Alteration of peripheral blood mononuclear cell micro-RNAs in subacute sclerosing panencephalitis may shed new light on the pathogenesis of disease and may contribute to the aberrant systemic rise in mRNA levels in subacute sclerosing panencephalitis

Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease