Hypersensitivity to nonsteroidal anti-inflammatory drugs (NSAIDs) are frequently encountered in daily clinical practice. The aim of this study was to determine the confirmation rates, risk factors of NSAID hypersensitivity in children and to try to classify them with a standardized diagnostic protocol. All patients with a suspicion of NSAID-induced hypersensitivity were evaluated with European Network for drug Allergy (ENDA) recommendations. The children were classified as selective responders (SRs) or cross-intolerant (CI) depending on the drug provocation test (DPT) results. We evaluated 106 children with a suspicion of NSAID hypersensitivity. NSAID hypersensitivity was confirmed with tests in 31 patients; 4 (12.9%) were diagnosed by skin tests and 27 (87.1%) by DPTs and two patients with a history of anaphylaxis by medical records. Eleven patients (33.3%) were classified as SRs, whereas twenty-two (66.6%) children as CIs. SRs and CIs were further classified as NSAID-induced urticaria/angioedema (n = 8), NSAID-exacerbated cutaneous disease (n = 6) and NSAID-exacerbated respiratory disease (n = 1) and single NSAID-induced urticaria/angioedema and/or anaphylaxis (n = 11). Eight (24.2%) patients could not be categorized according to ENDA/GA2LEN classification; one CI patient could not be classified based on pathomechanisms, seven CIs could not be categorized based on the underlying disease and clinical manifestations. A reaction within an hour of drug intake (aOR:3.0, 95% confidence interval: 1.18-7.67, p = 0.021), a history with multiple NSAIDs hypersensitivity (aOR:2.9, 95% confidence interval: 1.16-7.60, p = 0.022), and family history of atopy (aOR:4.0, 95% confidence interval: 1.50-10.82, p = 0.006) were found as the independent risk factors related to confirmed NSAID hypersensitivity. This study suggests the presence of different phenotypes which do not fit into the current classifications in children with NSAID hypersensitivity.
Aims: Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring, but data are conflicting. Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS (DS mothers); these samples were taken from 47 Turkish mothers having DS children (case group) and 49 control mothers. Investigated polymorphisms include methylenetetrahydrofolate reductase ( MTHFR ) C677T (rs1801133), A1298C (rs1801131), methionine synthase reductase ( MTRR ) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase ( MTHFD1 ) G1958A (rs2236225), reduced folate carrier ( RFC1 ) A80G (rs1051266), and cystathionine β-synthase ( CBS ) 844ins68. Results: The frequency of the MTHFR 677C allele in DS mothers (79.8%) was significantly higher than in controls (66.3%), with a 0.499-fold increased risk of having a DS offspring ( p =0.038 and 95% confidence interval [CI], 0.259-0.961). Mothers with the MTHFD1 1958A allele had a 1.880-fold increased risk of having a child with DS ( p =0.031 and 95% CI, 1.060-3.335). No significant association was found for the other polymorphic variants in this study. Gene-gene interactions were not statistically significant. Conclusion: Polymorphic variants of the enzymes involved in folate metabolism may play an important role in determining the susceptibility of having a DS offspring. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in future studies.
3 August 2017 in Progress in Biophysics and Molecular Biology
Background: Gestational diabetes mellitus (GDM), which has been identified for the first time during pregnancy and is defined as glucose intolerance of varying degrees, is one of the prediabetes states that are at risk for developing type 2 diabetes. MicroRNAs (miRNAs) are associated with pregnancy complications and are even necessary for the regulation of pancreatic development and glucose-induced insulin secretion. This study aims to investigate miRNAs expressed in maternal plasma to detect the availability as a biomarker in the diagnosis of GDM. Methods: In this study, 30 pregnant women with GDM diagnosed according to GDM American Diabetes Association criteria and 30 healthy pregnant women were included and miRNA expression levels were investigated. Circulating 39 miRNAs were analyzed by qRT-PCR using 96.96 Dynamic Array IFCs. Results: The findings showed that the expression level of miR-7-5p significantly upregulated when compared with healthy pregnant women with gestational diabetes (fold change:2.3, p<0.05). Conclusions: There is controversy about what is the most appropriate test for GDM screening. Therefore, supported by further studies, miR-7-5p can be used for the diagnosis of GDM.