Research highlights for August 2022

Feenstra et al. (1) aimed to compare phenotype–genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome.

The retrospective study found that patients with Usher syndrome tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.

The authors also reported 18 novel variants in genes associated with Usher syndrome, expanding the genetic spectrum of known pathogenic variants.

The relationship between dietary acrylamide and osteoporotic fractures was investigated in Veronese et al. (2).

4,436 participants took part in the study, which found that those with a higher acrylamide intake reported a significantly higher risk of any fracture (HR = 1.37; 95% CI 1.12–1.68; p for trend = 0.009), forearm (HR = 1.73; 95% CI 1.09–2.77; p for trend = 0.04), spine (HR = 2.21; 95% CI 1.14–4.31; p for trend = 0.04), and hip fracture (HR = 4.09; 95% CI 1.29–12.96; p for trend = 0.046).

The GBD 2019 LRI Collaborators (3) assessed the burden and trends of lower respiratory infections (LRIs) and corresponding risk factors.

The authors estimated that globally, in 2019 there were 257 million LRI incident episodes in males and 232 million in females. LRIs accounted for 1·30 million male deaths and 1·20 million female deaths.

The results showed an overall global decline in LRI incidence and mortality rates between 1990 and 2019; however, the pace of decline was unequal across age groups.

Hossain et al. (4) assessed COVID‐19 vaccine hesitancy and associated factors, beliefs and barriers associated with COVID-19 vaccination in Bangladeshi residents.

They found that 70% of participants surveyed were either vaccinated or willing to be vaccinated, while 26.42% were hesitant, with participants who reported good knowledge of COVID-19 having a higher acceptance rate and lower level of hesitancy.

A systematic review examining the prevalence of persistent anosmia, hyposmia, ageusia, and hypogeusia, as well as eye/vision and ear/hearing related long-COVID symptoms was undertaken by Trott et al. (5).

The authors found that the prevalence of anosmia was 12.2%, hyposmia 29.9%, ageusia 11.7%, and hypogeusia 31.2%, with several eye/vision and ear/hearing symptoms also reported.

Since changes in taste, smell, vision, and hearing are associated with decreases in quality of life and also reduced overall well-being, future research is required to ascertain the mechanisms behind this phenomenon and the creation of therapeutic interventions.

References

1. Feenstra, H. M., Al-Khuzaei, S., Shah, M., Broadgate, S., Shanks, M., Kamath, A., Yu, J., Jolly, J. K., MacLaren, R. E., Clouston, P., Halford, S., Downes, S. M., 2022. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes, 13(8). doi: 10.3390/genes13081423

2. Veronese, N., Bolzetta, F., Cacco, C., Cester, A., Smith, L., Demurtas, J., Cooper, C., Rizzoli, R., Caruso, M. G., Notarnicola, M., Reginster, J., Maggi, S., Barbagallo, M., Trott, M., Dominguez, L. J., 2022. Dietary acrylamide and incident osteoporotic fractures: an 8-year prospective cohort study. Aging Clinical and Experimental Research. doi: 10.1007/s40520-022-02214-9

3. Kyu, H. H., Vongpradith, A., Sirota, S. B., Novotney, A., Troeger, C. E., Doxey, M. C., et al. (Pardhan, S.), 2022. Age–sex differences in the global burden of lower respiratory infections and risk factors, 1990–2019: results from the Global Burden of Disease Study 2019. The Lancet Infectious Diseases. doi: 10.1016/S1473-3099(22)00510-2

4. Hossain, M. S., Islam, M. S., Pardhan, S., Banik, R., Ahmed, A., Islam, M. Z., Mahabub, M. S., Sikder, M. T., 2022. Beliefs, barriers and hesitancy towards the COVID-19 vaccine among Bangladeshi residents: Findings from a cross-sectional study. PLOS ONE, 17(8), e0269944. doi: 10.1371/journal.pone.0269944

5. Trott, M., Driscoll, R., Pardhan, S., 2022. The prevalence of sensory changes in post-COVID syndrome: A systematic review and meta-analysis. Frontiers in Medicine. doi: 10.3389/fmed.2022.980253