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Alkaptonuria is an inborn error of metabolism inherited as an autosomal recessive disorder due to a mutation in the homogentisic acid dioxygenase gene. It occurs rarely (global prevalence of alkaptonuria is 1 in 100,000 to 250,000), and mainly affects the joints and connective tissue of the body due to deposition of homogentisic acid giving affected areas a blue-black discoloration (ochronosis). In this case report, we present a male patient, aged 47 years, with joint and scleral involvement. He had been diagnosed many years ago with the disease by gas chromatography. His symptoms kept progressively worsening since he was recently prescribed physiotherapy and vitamin C for his disease, which has not been shown to be an effective treatment. A main reason for his disease deterioration was also the lack of nitisinone availability in his home country, as well as in the subcontinent region generally. We also presen a summary of some previously reported cases and treatment regimens to compare our case and present the comparison as a learning source for future physicians. [ABSTRACT FROM AUTHOR]

Objective: To assess the knowledge and perception of medical students regarding the utility and applications of artificial intelligence in medicine., Methods: The cross-sectional study was conducted at the Shifa College of Medicine, Islamabad, Pakistan, from February to August 2021, and comprised medical students regardless of gender or year of studies. Data was collected using a pretested questionnaire. Differences in perceptions were explored relative to gender and the year of studies. Data was analysed using SPSS 23., Results: Of the 390 participants, 168(43.1%) were males and 222(56.9%) were females. The overall mean age was 20±1.65 years. There were 121(31%) students from the first year of studies, 122(31.3%) second year, 30(7.7%) from third year, 73(18.7%) from fourth year, and 44(11.3%) from the fifth year. Most participants 221(56.7%) had a good familiarity with artificial intelligence, and 226(57.9%) agreed that the biggest advantage of using artificial intelligence in healthcare was its ability to speed up the processes. In terms of gender of year of studies, there were no significant differences on both counts (p>0.05)., Conclusions: Medical students, regardless of age and year of studies, were found to have a good understanding of the usage and application of artificial intelligence in medicine.