Evaluating the Levels of Awareness of and Attitudes on Advance Directives Among Primary Care Physicians in Puerto Rico.

OBJECTIVE: Advance directives (ADs) are legal documents designed to guarantee a patient's preference of care for the future. Primary care physicians (PCPs) have long been identified as key to promoting AD completion among patients. Furthermore, PCPs' levels of awareness of and attitudes toward ADs have been related to positive completion rates in patients. In this project, we sought to identify the levels of awareness and attitudes towards ADs in Puerto Rican PCPs. METHODS: Self-administered questionnaires were distributed at primary care medical conferences in Puerto Rico (PR) to explore the levels of awareness and attitudes of PCPs on ADs. RESULTS: A total of 332 surveys were collected. Overall, PCPs in PR had high selfrated knowledge of ADs, with the highest being reported among internal medicine physicians (8.63 ± 1.51). However, this self-rating was in stark contrast with the lower than 60% level of awareness of and commitment to reading the applicable laws on ADs in PR across all specialties. Puerto Rican PCPs showed strongly positive attitudes towards ADs and recognized them as useful tools for patients, healthcare workers, and families, enabling them to make healthcare decisions. Internal medicine practitioners showed the strongest positive attitudes of all PCPs. Despite the perceived usefulness of ADs, Puerto Rican PCPs had a low predisposition to complete their own ADs in the short term. CONCLUSION: Our results suggest that improvements in the education of health professionals with regard to ADs are needed to increase in physicians both their knowledge of the legal standards governing ADs and their commitment to ensuring that patients complete such directives.

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.

Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of the RSPH4A [c.921+3_6delAAGT] splice site mutation. However, the ancestry of this mutation is still not confirmed. This article describes the two pediatric PCD cases with the Puerto Rican foundermutationand reports an ancestral haplotype analysis of the RSPH4A [c.921+3_6delAAGT] splice site mutation. A median-joining haplotype network was constructed with the genome sequence data from 104 Puerto Rican subjects in the 1000 Genomes Project (1000GP). This study found that the RSPH4A [c.921+3_6delAAGT] splice site mutation was carried to Puerto Rico from Europe by conquistadors or shortly after the conquest and that it gained frequency on the island through genetic drift fueled by a subsequent population expansion.

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation.

Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorithms that include electron microscopy, genetics, and ancillary testing. Genetic mutations in more than 45 genes, including RSPH4A, can lead to PCD. RSPH4A mutations located on chromosome six, affect radial spokes and results in central complex apparatus abnormalities. The RSPH4A [c.921 + 3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. Additionally, there are further diagnostic challenges present in the Puerto Rican population to diagnose PCD. We describe the demographics, clinical features, and RSPH4A genetic variants in 13 patients with clinical PCD affecting 11 Puerto Ricans from unrelated families.