ABSTRACT
Background: Proinflammatory cytokines have been known to be elevated in patients with Chronic Heart Failure [CHF]. Given the importance of proinflammatory cytokines in the context of the failing heart, the prevalence of Tumor Necrosis Factor-alpha [TNF-alpha], Interleukin [IL]-6 polymorphisms in patients with CHF was studied due to ischemic heart disease
Methods: Forty three patients with ischemic heart failure were enrolled in this study and compared with 140 healthy individuals. The allele and genotype frequency of four Single Nucleotide Polymorphisms [SNPs] within the IL-6 [-174, nt565] and TNF-alpha [-308, -238] genes were determined, using Polymerase Chain Reaction with Sequence-Specific Primers [PCR-SSP] assay
Results: The frequency of the TNF-alpha [-238] A/A genotype was significantly higher in patients comparing to controls [p=0.043], while TNF-alpha G/A genotype at the same position decreased significantly, in comparison with controls [p=0.018]. The most frequent haplotype for TNF-alpha was A/A in the patient group in comparison with controls [p=0.003]. There was no significant difference in allele and genotype frequencies of IL-6 at positions -174 and nt565, and TNF-alpha at position -308
Conclusion: Certain alleles, genotypes, and haplotypes in TNF-alpha, but not IL-6, gene were overrepresented in patients with ischemic heart failure, which may, in turn, predispose individuals to this disease
ABSTRACT
Background: Inflammatory cytokines have been known to be associated with Chronic Heart Failure [CHF]. Given the importance of cytokines in the context of the failing heart, the prevalence of Interleukin-2 [IL-2] and Interferon-gamma [IFN-Gamma] polymorphisms was studied in patients with CHF due to ischemic heart disease in a casecontrol study
Methods: Fifty-six Iranian patients with CHF were enrolled in this study as the case group and compared with 139 healthy subjects, using polymerase chain reaction with sequence-specific primers method, so as to determine the frequency of alleles, genotypes and haplotypes of IFN-Gamma [+874 A/T] and IL-2 [-330 G/T, +166 G/T] SNPs
Results: The GG genotype at IL-2 -330 in patients with CHF was significantly overrepresented in comparison with the control group [p=0.013]. Such a positive genotypic association was also observed for IL-2 +166/TT [p=0.022]. Meanwhile, the GT genotype frequency at IL-2 -330/GT in the patient group was significantly lower than the one in healthy controls [p=0.049]. No significant association was detected between the IFN-Gamma gene polymorphisms and individuals' susceptibility to CHF
Conclusion: Certain genotypes in IL-2 gene were overrepresented in patients with CHF, which could render individuals more vulnerable to this disease
ABSTRACT
Maturity onset diabetes of the young type 2 [MODY] is an inherited disorder due to mutations in glucokinase [GCK] gene, which lead to mild fasting hyperglycemia. Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 [c.1010delA] in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication. The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes
Subject(s)
Humans , Male , Glucokinase/genetics , Mutation , Child , Genes , Hyperglycemia , FastingABSTRACT
Myiasis is the invasion of animal or human tissues by the larval stage of flies [diptera]. It is an accidental infestation in human. In this report a rural fifty-six-year old patient with myiasis on the scalp is presented. He was referred to clinic with a mass on his left temporo-occipital area. There was no history of trauma to his head or presence of ulcer on his scalp. On physical examination an ulcer sized 2x3 centimeters full of larvae was observed. The diagnosis of myiasis was made. Larvae were removed, tetanus vaccine was inoculated and oral antibiotics were prescribed. Parasitological examination determined the causative agent as Chrysomya bezziana