Sepsis is systemic response to infection with bacteria, viruses, fungi, protozoa, or rickettsiae. If not recognized and treated early, the progression from sepsis to severe sepsis, septic shock, and multiple organ dysfunction syndrome (MODS) are seen (1).Although pharmacologic, laboratory, and surgical advances have improved the outcomes of many infections, the mortality of sepsis and septic shock is high. The incidence of sepsis is more than 500,000 cases each year in the United States. The mortality rate is between 30% and 80% (2). Severe sepsis is a primary cause of death, especially in intensive care units.The systemic inflammatory response to infection (systemic inflammatory response syndrome-SIRS) is a complex situation (3). At the beginning of infection, pathogen-associated microbial patterns (PAMPs) are recognized by pattern recognition receptors (PRRs-cellular receptors expressed on extracellular membranes) and NF-kappa B (NF-KB) release. NF-KB is an important intracellular protein and translocated to the nucleus then the gene transcription of proinflammatory (tumor necrosis factor-α [TNF-α], interleukin [IL]-1, interleukin-6 [IL-6] and anti-inflammatory [IL-10] cytokines) (4). They trigger many physiologic responses such as stimulation of polymorphonuclear neutrophils, stimulation of the kallikrein-kinin system, activation of factor XII and extrinsic pathway, production of tissue factor (TF), and the activation of coagulation cascade and the complement system (5).Why do some children show mild clinical symptoms against infectious agents and others die within a few hours?Genetic epidemiologic studies suggest that variations in host genetic factors influence the outcome of sepsis (3,6-9). Several genetic polymorphisms have been identified in patients with sepsis and septic shock, including the TNF-α and TNF-β genes, the IL-1 family, the IL-6, the IL-10, the CD-14, the angiotensin-converting enzyme, Summary: Several genetic polymorphisms have been identified in patients with sepsis and severe sepsis, such as the tumor necrosis factor-α (TNF-α) and TNF-β genes, the interleukin-1 (IL-1) family, the IL-6, the IL-10, the CD-14, the Toll-like receptors, plasminogen activator inhibitor type 1, and the factor V 1691G-A mutations. In this study, the relationship between the TNF-α 308G/A, the IL-6-174 G/C, the PAI-1, the FVL, the EPCR, and the Cathepsin G (Ars 125Ser) polymorphisms and the development and outcome of sepsis in pediatric patients was studied. TNF-α 308 G/A, PAI-1 4G/4G, and EPCR mutations influence the risk of severe sepsis in children. IL-6 174 G/C, FVL, and Cathepsin G (Ars 125 Ser) did not influence the incidence and mortality of severe sepsis.

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Inherited gene defects related to the coagulation system have been reported as risk factors for ischemic stroke. These gene defects include a G-A transition at nucleotide 1691 in exon 10 of the Factor V gene causing activated protein C resistance; a G-A transition in the 3' untranslated region of the prothrombin gene at nucleotide position 20210 (G-A), which is associated with increased levels of prothrombin activity; and a C-T polymorphism at nucleotide 677 in the methylenetetrahydrofolate reductase gene responsible for an alanine to valine substitution, resulting in the synthesis of a thermolabile form of methylenetetrahydrofolate reductase that causes increased levels of homocysteine. The case-control study included 28 patients with cerebral infarction; all were 18 years of age or younger (range, 10 months to 18 years). Seven (25%) of the 28 patients were heterozygous for the FV1691 mutation. Five (17.8%) of the patients carried the PT20210A mutation. Two (7.1%) of the patients carried both mutations. When compared to controls, the difference was significant for both mutations (P = .007; .04). The frequency of allele T of methylenetetrahydrofolate reductase 677 was 0.3214, which was not significant when compared to controls (0.231; P = .3). A total of 12 (42.8%) patients carried one or both of the mutations FV1691 G-A and PT20210 G-A. From our data, it appears that FV1691 G-A and PT20210 G-A are associated with cerebral infarct risk independently. Risk assessment of double prothrombotic gene alterations did not reveal synergy between these mutations. In conclusion, the presence of FV1691 A and PT20210 A mutations but not the methylenetetrahydrofolate reductase 677 TT mutation correlate with the occurrence of cerebral infarction in children.

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Two hundred and twenty-eight patients with acute rheumatic fever (ARF), who were admitted to Dr Sami Ulus Children's Hospital between January 1990 and November 1992, were evaluated. Compared with the 1980s, an increase in the frequency of the disease was observed. The majority of patients (56.5%) were between 9 and 12 years old and 36.8% were admitted in winter. One hundred patients had arthritis only, 59 carditis and 40 chorea; 5 had carditis and chorea and 24 had arthritis and carditis. Nineteen percent of patients had a history of a previous attack. Seven of 84 patients with carditis had congestive heart failure and 2 had pericarditis. Cardiomegaly was present in 36 patients. The mitral valve was affected in 77 patients, tricuspid valve in 1 patient and both miral and aortic valves in 6 patients. One patient died as a result of severe congestive cardiac failure. Twenty-one patients had a recurrent attack. We observed that ARF is still a significant cause of morbidity in our country. As the disease is preventable by the eradication of streptococcus, we conclude that more effort should be made in the early detection and treatment of streptococcal infections.

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This study was undertaken to investigate the effects of acute infections (e.g., upper respiratory tract infection, acute gastroenteritis, urinary tract infection) on total blood count, the relation of these effects with acute phase reactants, and the level of improvement in the total blood count after the resolution of acute infection. A total of 113 previously healthy children between the ages of 6 months and 12 years were enrolled in the study. The control group consisted of 43 healthy children with proper age and gender distribution. A total of 55.7% of the patients had a decrease of 0.10-2.40 g/dL in Hb values on the 3rd day of acute infections. The comparisons of the 1st, 3rd, and 15th day Htc, RBC, MCV, MCHC, RDW values of the study and control groups revealed no significant differences. 7he 1st day SI, SIBC, and TS values of the study group were low in majority of the patients. Then they gradually increased, finally reaching at their normal levels on the 15th day. There was no significant difference between the sTfR and sTfR/log ferritin values of the study and control groups.

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