PURPOSE: The quality and bias of annotations by annotators (e.g., radiologists) affect the performance changes in computer-aided detection (CAD) software using machine learning. We hypothesized that the difference in the years of experience in image interpretation among radiologists contributes to annotation variability. In this study, we focused on how the performance of CAD software changes with retraining by incorporating cases annotated by radiologists with varying experience. METHODS: We used two types of CAD software for lung nodule detection in chest computed tomography images and cerebral aneurysm detection in magnetic resonance angiography images. Twelve radiologists with different years of experience independently annotated the lesions, and the performance changes were investigated by repeating the retraining of the CAD software twice, with the addition of cases annotated by each radiologist. Additionally, we investigated the effects of retraining using integrated annotations from multiple radiologists. RESULTS: The performance of the CAD software after retraining differed among annotating radiologists. In some cases, the performance was degraded compared to that of the initial software. Retraining using integrated annotations showed different performance trends depending on the target CAD software, notably in cerebral aneurysm detection, where the performance decreased compared to using annotations from a single radiologist. CONCLUSIONS: Although the performance of the CAD software after retraining varied among the annotating radiologists, no direct correlation with their experience was found. The performance trends differed according to the type of CAD software used when integrated annotations from multiple radiologists were used.
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of serum copper and ceruloplasmin. While heterozygous deletion of exons 16 and 17 of the ATP7A gene was detected in the proband, her mother, and her grandmother, only the proband suffered from Menkes disease clinically. Intriguingly, X chromosome inactivation (XCI) analysis demonstrated that the grandmother and the mother showed skewing of XCI toward the allele with the ATP7A deletion and that the proband had extremely skewed XCI toward the normal allele, resulting in exclusive expression of the pathogenic ATP7A mRNA transcripts. Expression bias analysis and recombination mapping of the X chromosome by the combination of whole genome and RNA sequencing demonstrated that meiotic recombination occurred at Xp21-p22 and Xq26-q28. Assuming that a genetic factor on the X chromosome enhanced or suppressed XCI of its allele, the factor must be on either of the two distal regions derived from her grandfather. Although we were unable to fully uncover the molecular mechanism, we concluded that unfavorable switching of skewed XCI caused Menkes disease in the proband.
Menkes Kinky Hair Syndrome , Humans , Infant , Female , Menkes Kinky Hair Syndrome/genetics , X Chromosome Inactivation/genetics , Copper/metabolism , Chromosomes, Human, X/genetics , Mutation
True thymic hyperplasia is defined as an increase in both the size and weight of the gland, while maintaining a normal microscopic architecture. Massive true thymic hyperplasia is a rare type of hyperplasia that compresses adjacent structures and causes various symptoms. Limited reports address the imaging findings of massive true thymic hyperplasia. Herein, we report a case of massive true thymic hyperplasia in a 3-year-old girl with no remarkable medical history. Contrast-enhanced CT revealed an anterior mediastinal mass with a bilobed configuration containing punctate and linear calcifications in curvilinear septa, which corresponded to lamellar bone deposits in the interlobular septa. To our knowledge, this is the first report of massive true thymic hyperplasia with osseous metaplasia. We also discuss the imaging features and etiology of massive true thymic hyperplasia with osseous metaplasia.
Germinoma is a rare CNS germ cell tumor preferentially affecting children and young adults. Intracranial germinomas arise typically in the neurohypophysis and pineal region and occasionally in the basal ganglia and thalamus. Germinomas in the basal ganglia and thalamus are characterized by the ipsilateral cerebral and brainstem hemiatrophy with slowly progressive neurological deficits, which is due to tumor infiltration into the thalamocortical and corticospinal tract and induction of anterograde and retrograde Wallerian degeneration. We report an 11-year-old boy with a mass located in the fornix incidentally discovered on the first work-up of his minor head injury. Imaging findings revealed the ipsilateral atrophy of the mammillary body and the fornix. Stereotactic brain biopsy was performed and the final diagnosis was germinoma. The ipsilateral atrophy of the mammillary body and the fornix implied the transsynaptic degeneration via the Papez circuit. We discuss the unique nature of germinomas and underlying pathological mechanisms.
