Medical oddity ushers in discovery of unheard-of immunity gene mutations and a better way to screen them
Researchers baffled by an infant’s rare encephalitis case unusual in children found unheard-of mutations and a new way to examine the “immunity gene.”
Brain MRI of the 10-month old boy with anti-NMDAR encephalitis obtained on day 4. The axial T2 weighted image (T2WI) in A and B and the axial fluid attenuation inversion recovery (FLAIR) image in C and D showed high intensity regions in the bilateral thalamus. New “immunity gene” mutations that researchers discovered to be deleterious were found in the infant.
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IMAGE: Brain MRI of the 10-month old boy with anti-NMDAR encephalitis obtained on day 4. The axial T2 weighted image (T2WI) in A and B and the axial fluid attenuation inversion. view more
Credit: Satoshi Okada
An infant s odd case of rare encephalitis not typically found in children led researchers to discover never before seen genetic mutations and a more accurate technique to examine the IRAK4 gene responsible for innate immunity.
The IRAK4 gene instructs the production of a protein that plays a key role in the early recognition and response to invading pathogens. Inherited mutations in this gene can cause an immune system disorder that leaves the body susceptible to recurrent infections of pus-forming pyogenic bacteria. Cases of IRAK4 deficiency are quite rare and only about 10 familial instances were identified so far in Japan.
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AI that detects post-stroke depression type can help stroke survivors get right treatment
An AI might soon help stroke survivors get the right treatment by detecting a patient’s post-stroke depression type, a frequently seen neuropsychiatric manifestation after a stroke that could impair functional recovery.
Associated neurological symptoms tend to hinder the detection of post-stroke depression. Researchers from Hiroshima University devised an AI that can diagnose three types of post-stroke mood disorders using 36 evaluation indices obtained from functional, physical, and cognitive tests on 274 patients.
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An AI developed by Japanese researchers might soon help stroke survivors get the right treatment by detecting a patient’s post-stroke depression (PSD) type, a frequently seen but often overlooked neuropsychiatric manifestation after a stroke that could impair functional recovery.