The Medical Segmentation Decathlon.

International challenges have become the de facto standard for comparative assessment of image analysis algorithms. Although segmentation is the most widely investigated medical image processing task, the various challenges have been organized to focus only on specific clinical tasks. We organized the Medical Segmentation Decathlon (MSD)-a biomedical image analysis challenge, in which algorithms compete in a multitude of both tasks and modalities to investigate the hypothesis that a method capable of performing well on multiple tasks will generalize well to a previously unseen task and potentially outperform a custom-designed solution. MSD results confirmed this hypothesis, moreover, MSD winner continued generalizing well to a wide range of other clinical problems for the next two years. Three main conclusions can be drawn from this study: (1) state-of-the-art image segmentation algorithms generalize well when retrained on unseen tasks; (2) consistent algorithmic performance across multiple tasks is a strong surrogate of algorithmic generalizability; (3) the training of accurate AI segmentation models is now commoditized to scientists that are not versed in AI model training.

The emerging neurological spectrum of AARS2-associated disorders.

BACKGROUND: The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase. Defects in this gene have been linked with autosomal recessive inheritance of a variety of different clinical phenotypes. CASE: A 13 year-old boy developed behavioral and psychiatric problems following a mild head injury. At age 21 he developed tremor, parkinsonism, and eye nystagmus. MRI revealed white matter changes consistent with a leukoencephalopathy. Genetic studies revealed two pathogenic mutations in the AARS2 gene (c.647dupG and c.595C > T). LITERATURE REVIEW: Only 47 cases of AARS2-associated disorders have been reported, with equal numbers of males and females, and age at onset ranging from infancy to 44 years. The most common clinical problems include movement disorders (71%), cognitive impairment (67%), corticospinal signs (64%), behavioral or psychiatric features (46%), and eye signs (34%). Imaging evidence suggestive of leukoencephalopathy is common, but not invariant. Premature ovarian failure is frequent in females, but not universal. CONCLUSIONS: Defects in the AARS2 gene are a rare cause for a variety of movement disorders, often associated with brain imaging evidence suggestive of leukoencephalopathy.

Lower functional connectivity of white matter during rest and working memory tasks is associated with cognitive impairments in schizophrenia.

BACKGROUND: Schizophrenia can be understood as a disturbance of functional connections within brain networks. However, functional alterations that involve white matter (WM) specifically, or their cognitive correlates, have seldomly been investigated, especially during tasks. METHODS: Resting state and task fMRI images were acquired on 84 patients and 67 controls. Functional connectivities (FC) between 46 WM bundles and 82 cortical regions were compared between the groups under two conditions (i.e., resting state and during working memory retention period). The FC density of each WM bundle was then compared between groups. Associations of FC with cognitive scores were evaluated. RESULTS: FC measures were lower in schizophrenia relative to controls for external capsule, cingulum (cingulate and hippocampus), uncinate fasciculus, as well as corpus callosum (genu and body) under the rest or the task condition, and were higher in the posterior corona radiata and posterior thalamic radiation during the task condition. FC for specific WM bundles was correlated with cognitive performance assessed by working memory and processing speed metrics. CONCLUSIONS: The findings suggest that the functional abnormalities in patients' WM are heterogeneous, possibly reflecting several underlying mechanisms such as structural damage, functional compensation and excessive effort on task, and that WM FC disruption may contribute to the impairments of working memory and processing speed. This is the first report on WM FC abnormalities in schizophrenia relative to controls and their cognitive associates during both rest and task and highlights the need to consider WM functions as components of brain functional networks in schizophrenia.

Visual-Tactile Spatial Multisensory Interaction in Adults With Autism and Schizophrenia.

Background: Individuals with autism spectrum disorder (ASD) and schizophrenia (SZ) exhibit multisensory processing difficulties and social impairments, with growing evidence that the former contributes to the latter. However, this work has largely reported on separate cohorts, introducing method variance as a barrier to drawing broad conclusions across studies. Further, very few studies have addressed touch, resulting in sparse knowledge about how these two clinical groups may integrate somatic information with other senses. Methods: In this study, we compared adults with ASD (n = 29), SZ (n = 24), and typical developmental histories (TD, n = 37) on two tasks requiring visual-tactile spatial multisensory processing. In the first task (crossmodal congruency), participants judged the location of a tactile stimulus in the presence or absence of simultaneous visual input that was either spatially congruent or incongruent, with poorer performance for incongruence an index of spatial multisensory interaction. In the second task, participants reacted to touch in the presence or absence of dynamic visual stimuli that appeared to approach or recede from the body. Within a certain radius around the body, defined as peripersonal space (PPS), an approaching visual or auditory stimulus reliably speeds reaction times (RT) to touch; outside of this radius, in extrapersonal space (EPS), there is no multisensory effect. PPS can be defined both by its size (radius) and slope (sharpness of the PPS-EPS boundary). Clinical measures were administered to explore relations with visual-tactile processing. Results: Neither clinical group differed from controls on the crossmodal congruency task. The ASD group had significantly smaller and more sharply-defined PPSs compared to the other two groups. Small PPS size was related to social symptom severity across groups, but was largely driven by the TD group, without significant effects in either clinical group. Conclusions: These results suggest that: (1) spatially static visual-tactile facilitation is intact in adults with ASD and SZ, (2) spatially dynamic visual-tactile facilitation impacting perception of the body boundary is affected in ASD but not SZ, and (3) body boundary perception is related to social-emotional function, but not in a way that maps on to clinical status.

A myelin gene causative of a catatonia-depression syndrome upon aging.

Severe mental illnesses have been linked to white matter abnormalities, documented by postmortem studies. However, cause and effect have remained difficult to distinguish. CNP (2',3'-cyclic nucleotide 3'-phosphodiesterase) is among the oligodendrocyte/myelin-associated genes most robustly reduced on mRNA and protein level in brains of schizophrenic, bipolar or major depressive patients. This suggests that CNP reduction might be critical for a more general disease process and not restricted to a single diagnostic category. We show here that reduced expression of CNP is the primary cause of a distinct behavioural phenotype, seen only upon aging as an additional 'pro-inflammatory hit'. This phenotype is strikingly similar in Cnp heterozygous mice and patients with mental disease carrying the AA genotype at CNP SNP rs2070106. The characteristic features in both species with their partial CNP 'loss-of-function' genotype are best described as 'catatonia-depression' syndrome. As a consequence of perturbed CNP expression, mice show secondary low-grade inflammation/neurodegeneration. Analogously, in man, diffusion tensor imaging points to axonal loss in the frontal corpus callosum. To conclude, subtle white matter abnormalities inducing neurodegenerative changes can cause/amplify psychiatric diseases.

Recurring episodes of Bell's mania after cerebrovascular accident.

BACKGROUND: Bell's mania (mania with delirium) is an acute neurobehavioral syndrome of unknown etiology that is characterized by the rapid onset of grandiosity, psychomotor excitement, emotional lability, psychosis, and sleep disruption consistent with mania, coupled with alterations in sensorium, and disorientation characteristic of delirium. Catatonia is a common feature of the syndrome. METHOD: The authors describe a case of recurrent delirium/mania with prominent catatonic features after a cerebellar and pontine stroke, and subsequent successful treatment with lorazepam. RESULTS: Symptoms quickly resolved after antipsychotics were discontinued, with continuation of valproate and lorazepam treatment. DISCUSSION: Failure to recognize this patient's syndrome as a form of catatonia could have had severe, even life-threatening, consequences. The use of neuroleptic medications in cases of delirium/mania with catatonic signs may result in marked clinical deterioration, whereas high-dose lorazepam can ameliorate catatonic signs.