Abstract Background Unsupervised learning can discover various unseen abnormalities, relying on large-scale unannotated medical images of healthy subjects. Towards this, unsupervised methods reconstruct a 2D/3D single image to detect outliers either in the learned feature space or from high reconstruction loss. However, without considering continuity between multiple adjacent slices, they canno...

Several tubulin isotypes, including Tuba1a, are associated with brain malformations. In this issue, Belvindrah et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201607074) show that Tuba1a and Tuba8 differentially regulate microtubule organization in neurons, and they provide insights into the mechanisms by which Tuba1a mutations disrupt adult mouse brain morphology.

abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...

This paper simply encapsulate the recent developments in the field of Symmetry based approaches to detect tumor and then came up with a new parameter which plays a crucial role in proving that a high degree of Symmetry is present in an axial normal human brain MRI (Magnetic resonance Imaging) and this symmetry get affected or not present in anomalous cases highlighting the fact that tumor might...

Dandy-Walker Malformation (DWM) is a rare congenital anomaly of the posterior cranial fossa. Features DWM include hypoplasia cerebellar vermis, enlargement fossa, and cystic dilatation fourth ventricle. MRI modality to confirm diagnosis. Treatment usually symptomatic required when signs hydrocephalus develop. Rare cases asymptomatic diagnosed incidentally are reported in literature. We report c...

Persistent left superior vena cava (PLSVC) is the most common congenital cardiac anomaly occurring in around 0.4% of the general population, and 1.3-4.5% in those with additional cardiac defects. Eighty-two percent of PLSVC coexists with a right superior vena cava. Usually PLSVC is asymptomatic, but can cause difficulties during central venous cannulation from the left side. There are a few cas...

Congenital amusia is a lifelong disability that prevents afflicted individuals from enjoying music as ordinary people do. The deficit is limited to music and cannot be explained by prior brain lesion, hearing loss, or any cognitive or socio-affective disturbance. Recent behavioral results suggest that this disorder is critically dependent on fine-grained pitch discrimination. Here, we present n...

holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptu...