Next Generation Clinical Practice — It’s Man Versus Artificial Intelligence!

Bijarnia‐Mahay, Sunita; Arora, Veronica

doi:10.1007/s13312-019-1671-7

Cited by 4 publications

(3 citation statements)

References 8 publications

(9 reference statements)

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“…However, it has not been described before comparing the 2 enzyme deficiency disorders. Facial recognition software such as Face2gene could be used to train this skill and help manage clinical diagnosis [Bijarnia-Mahay and Arora, 2019]. It is interesting to note that in spite of differences of the substrate specificity between ACOX1 and DBP (namely the branched-chain fatty acids including the side chain of the bile acid intermediates DHCA/THCA), the MRI and the clinical similarities are so prominent.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

2020

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• Disorders of peroxisomes include inherited defects of peroxisomal biogenesis as well as few single enzyme defects. • Acyl CoA oxidase (ACOX1) and D-bifunctional protein (DBP) deficiencies are 2 single enzyme defects in the beta-oxidation pathway of very long-chain fatty acids. Clinical profile of the patients is similar to peroxisomal biogenesis disorders, with some biochemical and radiological differences. Novel Insights • ACOX1 and DBP deficiencies not only show similarity in the clinical presentation, but also in facial dysmorphology and neuroradiological features. • A clinically recognizable facial phenotype and a strikingly similar radiological profile (MRI pattern) can help identify cases of ACOX1 and DBP deficiencies earlier. • Expansion of the genotypic spectrum with a description of 3 homozygous novel mutations (HSD17B4: c.670C>T, c.1807T>C; ACOX1: 1.03-kb exonic deletion).

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Section: Discussion/conclusionmentioning

confidence: 99%

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

2020

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“…These serve as an aid to clinicians to narrow the differential diagnosis especially in genetic disorders where the phenotype is nonspecific. 3 We present a 12-year-old girl patient with mild intellectual disability (ID) and macrocephaly, in whom an initial provisional diagnosis of AMER1 gene-related OSCS was made with the help of the Face2Gene software. This was later confirmed both radiologically and molecularly.…”

Section: Introductionmentioning

confidence: 99%

“…These serve as an aid to clinicians to narrow the differential diagnosis especially in genetic disorders where the phenotype is nonspecific. 3…”

Section: Introductionmentioning

confidence: 99%

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

et al. 2020

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Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and radiological profile of a patient with this rare disorder. A novel heterozygous variant was identified in the AMER1 gene which leads to premature truncation of the AMER1 protein. Facial gestalt recognition using artificial intelligence and radiographic features were used to narrow the differential diagnosis.

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