Alfonso Torres-Palacios

ORMDL3 gene is associated with asthma in three ethnically diverse populations.

RATIONALE Independent replication of genetic associations in complex diseases, particularly in whole-genome association studies, is critical to confirm the association. OBJECTIVES A whole-genome association study identified ORMDL3 as a promising candidate gene for asthma in white populations. Here, we attempted to confirm the role of ORMDL3 genetic variants in asthma in three ethnically diverse populations: Mexican, Puerto Rican, and African American. METHODS We used family-based analyses to test for association between seven candidate single-nucleotide polymorphisms (SNPs) in and around the ORMDL3 gene and asthma and related phenotypes in 701 Puerto Rican and Mexican parent-child trios. We also evaluated these seven SNPs and an additional ORMDL3 SNP in 264 African American subjects with asthma and 176 healthy control subjects. MEASUREMENTS AND MAIN RESULTS We found significant associations between two SNPs within ORMDL3 (rs4378650 and rs12603332) and asthma in Mexicans and African Americans (P = 0.028 and 0.001 for rs4378650 and P = 0.021 and 0.001 for rs12603332, respectively), and a trend toward association in Puerto Ricans (P = 0.076 and 0.080 for SNPs rs4378650 and rs12603332, respectively). These associations became stronger among Mexican and Puerto Rican subjects with asthma with IgE levels greater than 100 IU/ml. We did not find any association between ORMDL3 SNPs and baseline lung function or response to the bronchodilator albuterol. CONCLUSIONS Our results confirm that the ORMDL3 locus is a risk factor for asthma in ethnically diverse populations. However, inconsistent SNP-level results suggest that further studies will be needed to determine the mechanism by which ORMDL3 predisposes to asthma.

Ludwig's angina: an uncommon cause of chest pain.

A 71-year-old male with coronary artery disease, hypertension, diabetes mellitus, tobacco and opioid dependence came to the emergency room complaining of one episode of retrosternal chest pain oppressive in nature of one day of evolution. He had acute respiratory distress and required mechanical ventilation. The initial impression was myocardial ischemia, but electrocardiography and cardiac enzymes ruled it out. During the following hours, neck and tongue edema developed. He was started on broad-spectrum antibiotics empirically. Neck computed tomography scan revealed a left parapharyngeal and submandibular abscess. The abscess was drained. The source of infection was found on the second molar of the left lower jaw. The patient improved and was successfully weaned from mechanical ventilation. Despite advances in therapy, Ludwig’s angina remains a potentially lethal infection in which early recognition plays a crucial role.