Genetic Variants and Haplotypes of TOMM40, APOE, and APOC1 are Related to the Age of Onset of Late-onset Alzheimer Disease in a Colombian Population.

BACKGROUND: The Apolipoprotein E (APOE) gene is the main risk factor for late-onset Alzheimer disease (LOAD). Genetic variants and haplotypes in regions near the APOE locus may be associated with LOAD in the Colombian population. OBJECTIVE: We evaluated frequencies and risk of genetic variants and haplotypes in APOE, TOMM40, and APOC1 promoters, also in putative regulatory enhancer elements (TOMM40 IVS2-4 and TOMM40 IVS6), and in cis-regulatory elements (ME1 and BCR). MATERIALS AND METHODS: Our case-control association study was carried out in 50 patients with LOAD and 50 controls. We determined frequencies and odd ratios for genetic variants and haplotypes. RESULTS: We found a significant association between LOAD and genetic variants at the TOMM40 promoter, at TOMM40 IVS2-4 and TOMM40 IVS6 regulatory enhancer elements, and at the APOC1 promoter. Particularly, variants of Poly-T and APOC1 promoter could anticipate the age of onset of LOAD in our population. We identified three risk haplotypes in TOMM40 (ACGGAG, ACGGGG, and ATAGGC) related to LOAD's age of onset. We also found other risk or protection haplotypes at the TOMM40 and APOE promoters, at TOMM40 IVS2-4, TOMM40 IVS6 regulatory enhancer elements, and at ME1. CONCLUSION: Genetic variants and haplotypes near the APOE locus are related to LOAD risk and accelerated onset of LOAD in the Colombian population.

Surface enhanced Raman scattering of amino acids assisted by gold nanoparticles and Gd(3+) ions.

The surface enhanced raman scattering (SERS) signal from the l-tyrosine (tyr) molecule adsorbed on gold nanoparticles (Au-tyr) is compared with the SERS signal assisted by the presence of gadolinium ions (Gd(3+)) coordinated with the Au-tyr system. An enhancement factor of the SERS signal in the presence of Gd(3+) ions was ∼5 times higher than that produced by l-tyrosine adsorbed on gold nanoparticles. The enhancement of the SERS signal can be attributed to a corresponding increase in the local electric field due to the presence of Gd(3+) ions in the vicinity of a gold dimer configuration. This scenario was confirmed by solving numerically Maxwell equations, showing an increase of 1 order of magnitude in the local electric scattered field when the Gd(3+) ion is located in between a gold dimer compared with naked gold nanoparticles.

Prediction ability for growth and maternal traits using SNP arrays based on different marker densities in Nellore cattle using the ssGBLUP.

This study aimed to investigate the prediction ability for growth and maternal traits using different low-density customized SNP arrays selected by informativeness and distribution of markers across the genome employing single-step genomic BLUP (ssGBLUP). Phenotypic records for adjusted weight at 210 and 450 days of age were utilized. A total of 945 animals were genotyped with high-density chip, and 267 individuals born after 2008 were selected as validation population. We evaluated 11 scenarios using five customized density arrays (40 k, 20 k, 10 k, 5 k and 2 k) and the HD array was used as desirable scenario. The GEBV predictions and BIF (Beef Improvement Federation) accuracy were obtained with BLUPF90 family programs. Linear regression was used to evaluate the prediction ability, inflation, and bias of GEBV of each customized array. An overestimation of partial GEBVs in contrast with complete GEBVs and increase of BIF accuracy with the density arrays diminished were observed. For all traits, the prediction ability was higher as the array density increased and it was similar with customized arrays higher than 10 k SNPs. Level of inflation was lower as the density array increased of and was higher for MW210 effect. The bias was susceptible to overestimation of GEBVs when the density customized arrays decreased. These results revealed that the BIF accuracy is sensible to overestimation using low-density customized arrays while the prediction ability with least 10,000 informative SNPs obtained from the Illumina BovineHD BeadChip shows accurate and less biased predictions. Low-density customized arrays under ssGBLUP method could be feasible and cost-effective in genomic selection.

Computed tomography findings of Crouzon syndrome: A case report.

Crouzon syndrome is a genetic condition characterized by a premature fusion of skull sutures resulting in head and facial deformities. Crouzon syndrome is usually suspected at birth through physical examination or in the antenatal period via ultrasonographic assessment. Once Crouzon syndrome is suspected, advanced imaging methods such as three-dimensional computed tomography must be requested, showing early signs of cranial sutures fusion. In this paper, we present a case of a six-year-old girl who was taken to a pediatrician control appointment due to abnormal facies. During the physical examination, a suspicion of Crouzon syndrome was raised. Therefore, a head computed tomography was requested, showing asymmetrical calvarium thickening, diffuse indentation of the inner table of the skull, and moderate hydrocephalus with a big cyst in the posterior fossa. Due to these findings, the patient was remitted to maxillofacial surgery for further evaluation; however, the medical appointment could not be achieved as a consequence of the poor medical insurance of the girl. This paper aims to describe and discuss the computed tomography findings of Crouzon syndrome.

Clinical and CT patterns to predict EGFR mutation in patients with non-small cell lung cancer: A systematic literature review and meta-analysis.

PURPOSE: This study aims to determine if the presence of specific clinical and computed tomography (CT) patterns are associated with epidermal growth factor receptor (EGFR) mutation in patients with non-small cell lung cancer. METHODS: A systematic literature review and meta-analysis was carried out in 6 databases between January 2002 and July 2021. The relationship between clinical and CT patterns to detect EGFR mutation was measured and pooled using odds ratios (OR). These results were used to build several mathematical models to predict EGFR mutation. RESULTS: 34 retrospective diagnostic accuracy studies met the inclusion and exclusion criteria. The results showed that ground-glass opacities (GGO) have an OR of 1.86 (95%CI 1.34 -2.57), air bronchogram OR 1.60 (95%CI 1.38 - 1.85), vascular convergence OR 1.39 (95%CI 1.12 - 1.74), pleural retraction OR 1.99 (95%CI 1.72 - 2.31), spiculation OR 1.42 (95%CI 1.19 - 1.70), cavitation OR 0.70 (95%CI 0.57 - 0.86), early disease stage OR 1.58 (95%CI 1.14 - 2.18), non-smoker status OR 2.79 (95%CI 2.34 - 3.31), female gender OR 2.33 (95%CI 1.97 - 2.75). A mathematical model was built, including all clinical and CT patterns assessed, showing an area under the curve (AUC) of 0.81. CONCLUSIONS: GGO, air bronchogram, vascular convergence, pleural retraction, spiculated margins, early disease stage, female gender, and non-smoking status are significant risk factors for EGFR mutation. At the same time, cavitation is a protective factor for EGFR mutation. The mathematical model built acts as a good predictor for EGFR mutation in patients with lung adenocarcinoma.

Popliteal artery pseudoaneurysm caused by non-penetrating trauma in a patient with hereditary multiple osteochondromatosis.

Hereditary multiple osteochondromatosis is a genetic condition characterized by the appearance of numerous osteochondromas, which can cause pseudoaneurysms in rare cases. The following article describes a 15-year-old patient with a history of current massages as part of his gym routine, who arrived at the emergency department with 4 days of pain, and ecchymosis in the right popliteal region. Therefore, duplex ultrasonography and arteriography were performed, confirming the diagnosis of popliteal pseudoaneurysm, which was subsequently treated by open surgery, providing a satisfactory outcome.

Factores asociados a complicaciones en pacientes diabéticos con enfermedad coronaria multivaso intervenidos quirúrgicamente en un centro cardiovascular de alta complejidad / Factors associated with complications in diabetic patients with multivessel coronary disease surgically operated in a highly complex cardiovascular center

Resumen Objetivo: Determinar las características sociodemográficas, clínicas y de procedimiento asociadas a complicaciones en pacientes diabéticos con enfermedad coronaria severa, sometidos a revascularización quirúrgica. Métodos: Estudio de cohortes retrospectivo en pacientes mayores de 18 años con diagnóstico de diabetes mellitus y enfermedad coronaria multivaso, sometidos a revascularización quirúrgica, en el que se evaluaron las características individuales, clínicas y de procedimiento asociadas a complicaciones posquirúrgicas. Se realizó un análisis bivariado y multivariado mediante regresión logística binaria. Resultados: Los factores asociados a complicaciones fueron edad, índice de masa corporal, fracción de eyección del ventrículo izquierdo, clase funcional de la Asociación del Corazón de Nueva York (NYHA, su sigla en inglés por New York Heart Association) preintervención y antecedente de consumo de alcohol y tabaco; de estos, la edad es la variable que persiste con significancia estadística tras el modelo de regresión logística binaria. Conclusión: La incidencia de complicaciones posoperatorias en pacientes diabéticos sometidos a revascularización quirúrgica es comparable con la observada en estudios previos, y el factor asociado encontrado para este grupo de pacientes es la edad. El modelo podría explicar el 23 % del desarrollo de complicaciones en la cohorte estudiada.

Abstract Objective: To determine the sociodemographic, clinical and procedural characteristics associated with complications in diabetic patients with severe coronary disease treated by coronary artery bypass surgery. Methods: A retrospective cohort study in patients over 18 years old with a diagnosis of diabetes mellitus and multivessel coronary disease, undergoing surgical revascularization, where individual, clinical and procedural characteristics associated with surgical complications were evaluated. A bivariate and multivariate analysis was performed using binary logistic regression. Results: The factors associated with complications that were found were: age, body mass index, left ventricular ejection fraction, pre intervention New York Heart Association (NYHA) functional class, alcohol and tobacco history. Of these, age was the only variable that persists with statistical significance after the logistic regression model. Conclusion: The incidence of postoperative complications in diabetic patients undergoing surgical revascularization is comparable to that observed in previous studies. The associated factor found for this group of patients is the age.