Exploring the role of ChatGPT in clinical decision-making in otorhinolaryngology: a ChatGPT designed study.

PURPOSE: Since the beginning of 2023, ChatGPT emerged as a hot topic in healthcare research. The potential to be a valuable tool in clinical practice is compelling, particularly in improving clinical decision support by helping physicians to make clinical decisions based on the best medical knowledge available. We aim to investigate ChatGPT's ability to identify, diagnose and manage patients with otorhinolaryngology-related symptoms. METHODS: A prospective, cross-sectional study was designed based on an idea suggested by ChatGPT to assess the level of agreement between ChatGPT and five otorhinolaryngologists (ENTs) in 20 reality-inspired clinical cases. The clinical cases were presented to the chatbot on two different occasions (ChatGPT-1 and ChatGPT-2) to assess its temporal stability. RESULTS: The mean score of ChatGPT-1 was 4.4 (SD 1.2; min 1, max 5) and of ChatGPT-2 was 4.15 (SD 1.3; min 1, max 5), while the ENTs mean score was 4.91 (SD 0.3; min 3, max 5). The Mann-Whitney U test revealed a statistically significant difference (p < 0.001) between both ChatGPT's and the ENTs's score. ChatGPT-1 and ChatGPT-2 gave different answers in five occasions. CONCLUSIONS: Artificial intelligence will be an important instrument in clinical decision-making in the near future and ChatGPT is the most promising chatbot so far. Despite needing further development to be used with safety, there is room for improvement and potential to aid otorhinolaryngology residents and specialists in making the most correct decision for the patient.

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed CNGB1-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the CNGB1 gene and expands the mutational spectrum of CNGB1-related disease by reporting two novel variants.