Co-occurring Usher syndrome Type 1 and Renal Failure.

PURPOSE: To describe a patient with a rare co-occurrence of Usher syndrome type 1C (USH1C) and renal disease, suspected to be secondary to Alport syndrome. METHOD: Case report and literature review of cases with Usher syndrome and renal failure. Clinical examination, color fundus photography, visual field tests, electroretinography and whole exome sequencing were used to diagnose and document the patient's clinical presentation. RESULTS: An 18-year-old female with known history of congenital hearing loss and chronic renal failure, presents with progressive night and peripheral visual impairment suspicious for an inherited retinal disease. Visual field testing, fundus exam and electroretinography findings supported the diagnosis of Usher syndrome. Whole exome sequencing (WES) identified a novel homozygous frameshift variant (c.238del) in USH1C. WES also identified a homozygous COL4A3 variant of unknown significance, which may be responsible for concomitant Alport syndrome. CONCLUSION: By presenting this rare case of co-occurring Usher syndrome Type 1 and renal failure, we highlight the importance of conducting further investigations that could reveal an additional underlying etiology when these entities are present.

Cardiovascular Risk Factors Among Asian Americans: Perspectives on the Role of Acculturation in Cardiovascular Diseases Health Disparities.

The growing prevalence of cardiovascular diseases in the United States (US) has disproportionately affected minority populations more than their white counterparts. A population that is often overlooked is the Asian American population, particularly Southeastern Asian immigrants. Despite having relatively favorable socioeconomic indicators compared to the general US population, Asian Americans, specifically Southeast Asian individuals, face a significant burden of traditional cardiovascular risk factors and are considered a high cardiovascular disease risk group. In addition, most studies have aggregated Asian populations into one major racial group rather than analyzing the different ethnicities among the Asian categorization. While some studies suggest that the acculturation process has some degree of impact on cardiovascular health, there has not been a widely-used tool to measure or ascertain the totality of acculturation. Instead, multiple proxies have been used to measure acculturation, and prior studies have argued for more culturally-tailored acculturation proxies. This paper aims to assess the implications of different acculturation measures on cardiovascular health among Asian Americans, particularly Southeastern Asian immigrants. The following proxies were expanded on in this paper: English spoken at home, length of stay in the US, religiosity and spirituality, and admixed family structures. Previous studies showed that as the length of stay in the US increases, the burden of cardiovascular risk factors increases. However, the impact of English spoken at home, religiosity, and admixed family structure are still inconclusive given the extent of current studies. While most studies suggest that an increase in acculturation increases the risk of cardiovascular disease, it is critical to note that acculturation is a multifaceted process. Therefore, more studies are necessary to appropriately examine the implications of various acculturation processes on cardiovascular risk factors in Asians, specifically Southeastern Asian individuals in the US.