Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.

BACKGOUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors.

The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever.

OBJECTIVES: Familial Mediterranean fever (FMF) is one of the most serious inherited inflammatory disorders among Jewish, Armenian, Turkish and Arab populations. The imbalance between pro- and anti-inflammatory cytokines may play a role in its etiology. We have investigated whether tumor necrosis factor-alpha (TNF-α) and plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms are associated with FMF and evaluated the relationship between these polymorphisms and genotypic manifestation of FMF. METHODS: We investigated single nucleotide polymorphisms of the TNF-α promoter at positions -308 G/A and the PAI-1 4G/5G gene polymorphism in peripheral blood leukocytes collected from 177 individuals with FMF with different genotype combinations. All of the polymorphisms of TNF-α and PAI-1 were detected by PCR and restriction fragment length polymorphism analysis. RESULTS: There were no association between the TNF-α/308 genotypes and mutations in FMF. In contrast, the PAI-1 4G/5G gene polymorphism may have a significant effect in FMF disease. CONCLUSIONS: Screening with PAI-1 gene polymorphism tests may be beneficial for tracing future FMF patients. However, further investigations are needed to reach a conclusion on the association between PAI-1 polymorphisms and FMF.

Magnetic resonance enterography in pediatric celiac disease.

OBJECTIVE: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. METHODS: Thirty-one pediatric patients (mean age 11.7±3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. RESULTS: The mean duration of the disease was 5.6±1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2±66.6RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. CONCLUSION: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Magnetic resonance enterography in pediatric celiac disease / A enterografia por ressonância magnética na doença celíaca pediátrica

Abstract Objective: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. Methods: Thirty-one pediatric patients (mean age 11.7 ± 3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. Results: The mean duration of the disease was 5.6 ± 1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2 ± 66.6 RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. Conclusion: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Resumo Objetivo: Avaliar se a enterografia por ressonância magnética (ERM) consegue comprovar/mostrar a extensão da doença em pacientes pediátricos com doença celíaca (DC) comprovada por biópsia, comparar com um grupo de controle e correlacionar os achados da ERM com o nível de anticorpo antiendomísio (EMA) indicador de dieta sem glúten. Métodos: Foram recrutados 31 pacientes pediátricos (idade média entre 11,7 ± 3,1 anos) com DC comprovada por biópsia e 40 pacientes pediátricos em um grupo de controle. As imagens da ERM dos pacientes com DC e no grupo de controle foram avaliadas por dois radiologistas pediátricos às cegas para o padrão da mucosa, presença de espessamento da parede, dilatação luminal do intestino delgado e achados extraintestinais. Os prontuários dos pacientes foram revisados para anotação de características clínicas e achados laboratoriais. A avaliação histopatológica das biópsias duodenais foi feita novamente. Resultados: A duração média da doença foi 5,6 ± 1,8 anos (faixa de 3-7,2 anos). Em 24 (77%) dos pacientes, os níveis EMA estavam elevados (média 119,2 ± 66,6 RU/mL). A ERM revelou um padrão de pregas normal em todos os pacientes; 10 (32%) dos pacientes apresentaram gânglios linfáticos mesentéricos aumentados. Conclusão: Apesar de a maioria dos pacientes ter níveis elevados de EMA, o que indica uma dieta pobre, a ERM não mostrou anomalia na mucosa associada à incapacidade de a ERM detectar alterações leves/precoces de DC nas crianças. Portanto, ela pode não ser útil no acompanhamento da DC pediátrica.

Propofol-ketamine vs propofol-fentanyl for sedation during pediatric upper gastrointestinal endoscopy.

BACKGROUND: The aim of this study was to compare the clinical efficacy and safety of propofol-ketamine with propofol-fentanyl in pediatric patients undergoing diagnostic upper gastrointestinal endoscopy (UGIE). METHODS: This was a prospective, randomized, double blinded comparison of propofol-ketamine with propofol-fentanyl for sedation in patients undergoing elective UGIE. Ninety ASA I-II, aged 1 to 16-year-old patients were included in the study. Heart rate (HR), systolic arterial pressure, peripheral oxygen saturation, respiratory rate (RR) and Ramsey sedation scores of all patients were recorded perioperatively. Patients were randomly assigned to receive either propofol-ketamine (PK; n = 46) or propofol-fentanyl (PF; n = 44). PK group received 1 mg x kg(-1) ketamine + 1.2 mg x kg(-1) propofol, and PF group received 1 microg x kg(-1) fentanyl + 1.2 mg x kg(-1) propofol for sedation induction. Additional propofol (0.5-1 mg x kg(-1)) was administered when a patient showed discomfort in either group. RESULTS: The number of patients who needed additional propofol in the first minute after sedation induction was eight in Group PK (17%), and 22 in Group PF (50%) (P < 0.01) and those who did not need additional propofol throughout the endoscopy were 14 in Group PK (30%) and three in Group PF (7%) (P < 0.01). HR and RR values after induction in Group PF were significantly lower than Group PK (P < 0.01). CONCLUSIONS: Both PK and PF combinations provided effective sedation in pediatric patients undergoing UGIE, but the PK combination resulted in stable hemodynamics and deeper sedation though more side effects.

Amitraz poisoning in children.

There is no information available in the general paediatric literature about amitraz poisoning. In the present study, which is the largest series in the literature, we report 24 children with amitraz poisoning.

Nitric oxide metabolities in acute rheumatic fever.

Acute rheumatic fever (ARF), is a systemic inflammatory disease etiologically related to infection with group A beta hemolytic streptococcus, characterized by a broad spectrum of disorders in cellular immunity. To estimate the activity of the immunopathological process in patients with ARF, plasma nitric oxide metabolities (NOx) concentrations, IL-1alpha and IL-2 levels were investigated in 22 patients with ARF at the time on admission, and after 3 months, in children with chronic rheumatic heart disease (CRHD). Plasma NOx concentrations, IL-1alpha and IL/2 levels in patients with ARF on admission were significantly higher than in the same patients 3 months later, and higher than in CRHD, or controls. Increased plasma NO may be a useful index for the quantitative assessment of the activity during immunological challenge. This information may be useful for the prognosis and monitoring of ARF.