Common Inflammation-Related Candidate Gene Variants and Acute Kidney Injury in 2647 Critically Ill Finnish Patients

Acute kidney injury (AKI) is a syndrome with high incidence among the critically ill. Because the clinical variables and currently used biomarkers have failed to predict the individual susceptibility to AKI, candidate gene variants for the trait have been studied. Studies about genetic predisposition to AKI have been mainly underpowered and of moderate quality. We report the association study of 27 genetic variants in a cohort of Finnish critically ill patients, focusing on the replication of associations detected with variants in genes related to inflammation, cell survival, or circulation. In this prospective, observational Finnish Acute Kidney Injury (FINNAKI) study, 2647 patients without chronic kidney disease were genotyped. We defined AKI according to Kidney Disease: Improving Global Outcomes (KDIGO) criteria. We compared severe AKI (Stages 2 and 3, n = 625) to controls (Stage 0, n = 1582). For genotyping we used iPLEX(TM) Assay (Agena Bioscience). We performed the association analyses with PLINK software, using an additive genetic model in logistic regression. Despite the numerous, although contradictory, studies about association between polymorphisms rs1800629 in TNFA and rs1800896 in IL10 and AKI, we found no association (odds ratios 1.06 (95% CI 0.89-1.28, p = 0.51) and 0.92 (95% CI 0.80-1.05, p = 0.20), respectively). Adjusting for confounders did not change the results. To conclude, we could not confirm the associations reported in previous studies in a cohort of critically ill patients

Características cefalométricas do padrão face longa Cephalometric characteristics assessment of long face pattern

Este estudo determinou as características cefalométricas dos indivíduos portadores de Padrão Face Longa em comparação com indivíduos Padrão I. Um total de 73 telerradiografias em norma lateral, sendo 34 Padrão Face Longa e 39 Padrão I, foram selecionadas com base na morfologia facial, não considerando as relações oclusais e sagitais. Foram avaliados: padrão de crescimento facial, alturas faciais anteriores e posterior, relação maxilo-mandibular, além das relações dentárias com suas bases apicais. De uma forma geral, os indivíduos Padrão Face Longa apresentaram grandes desvios em relação aos indivíduos Padrão I, sendo a doença decorrente de um desequilíbrio entre os componentes verticais. Pôde-se observar que os valores das grandezas AFAT, AFAI, AFATperp, AFAIperp, 1-PP, 6-PP, 1-PM, SNB, ANB, ângulo goníaco, ângulo plano mandibular, além das proporções AFAI/AFAT e AFAIperp/AFATperp, estavam significantemente alterados para os indivíduos Padrão Face Longa. Com base nos resultados obtidos neste estudo, verificou-se que esses indivíduos caracterizavam-se pelo padrão de crescimento vertical e por um aumento da altura facial anterior inferior - conseqüentemente, da altura facial anterior total - estando a deformidade localizada abaixo do plano palatino. Foram observados ainda um retrognatismo maxilar e mandibular, além da presença de extrusão dentária anterior (superior e inferior) e póstero-superior, com os incisivos superiores bem posicionados em suas bases e os inferiores lingualizados.<br>This study aimed to determine cephalometric characteristics of long face pattern patients in comparison to Class I pattern patients. A total of 73 lateral norm telerradiographs, 34 long face pattern and 39 Class I pattern individuals, were selected and compared with regards to facial morphology, not considering occlusal and sagital relationships. Additionally, evaluations were also made on facial growth pattern, anterior and posterior facial heights, maxillary-mandibular relationship, as well as apical bases relationship and dental characteristics. In short, long face pattern individuals presented a large number of deviations compared to Class I pattern individuals, dysplasia being due to a disproportion among vertical components. It was observed that the values of variables TAFH, LAFH, TAFHperp, LAFHperp, 1-PP, 6-PP, 1-MP, SNB, ANB, goniac angle, mandibular plane angle, and the proportions among the facial heights were significantly altered in long face pattern individuals. Based on the results obtained from the present study, it has been verified that those individuals were characterized by the vertical growth pattern and by an increase of anterior and inferior facial height, the deformity being located below the palatal plane. It was also possible to verify a maxillary and mandibular retrognathism, as well as the presence of anterior (upper and lower) and posterosuperior dental extrusion, with apical incisors in apical base, and linguoclinated lower incisors

Heme oxygenase-1 repeat polymorphism in septic acute kidney injury

Abstract Acute kidney injury (AKI) is a syndrome that frequently affects the critically ill. Recently, an increased number of dinucleotide repeats in the HMOX1 gene were reported to associate with development of AKI in cardiac surgery. We aimed to test the replicability of this finding in a Finnish cohort of critically ill septic patients. This multicenter study was part of the national FINNAKI study. We genotyped 300 patients with severe AKI (KDIGO 2 or 3) and 353 controls without AKI (KDIGO 0) for the guanine–thymine (GTn) repeat in the promoter region of the HMOX1 gene. The allele calling was based on the number of repeats, the cut off being 27 repeats in the S–L (short to long) classification, and 27 and 34 repeats for the S–M–L₂ (short to medium to very long) classification. The plasma concentrations of heme oxygenase-1 (HO-1) enzyme were measured on admission. The allele distribution in our patients was similar to that published previously, with peaks at 23 and 30 repeats. The S-allele increases AKI risk. An adjusted OR was 1.30 for each S-allele in an additive genetic model (95% CI 1.01–1.66; p = 0.041). Alleles with a repeat number greater than 34 were significantly associated with lower HO-1 concentration (p&lt;0.001). In septic patients, we report an association between a short repeat in HMOX1 and AKI risk