10 research outputs found
Transient side shift of cluster headache attacks after unilateral greater occipital nerve injection
Attacks of cluster headache (CH) are usually side-locked in most, but not all, patients. In a few patients, the side may alternate between or, rarely, within cluster episodes. We observed seven cases in whom the side of CH attacks temporarily shifted immediately or shortly after unilateral injection of the greater occipital nerve (GON) with corticosteroids. In five patients with previously side-locked CH attacks and in two patients with previously side-alternating CH attacks, a side shift for several weeks occurred immediately (N = 6) or shortly (N = 1) after GON injection. We concluded that unilateral GON injections might cause a transient side shift of CH attacks through inhibition of the ipsilateral hypothalamic attack generator causing relative overactivity of the contralateral side. The potential benefit of bilateral GON injection in patients who experienced a side shift after unilateral injection should be formally investigated. Paroxysmal Cerebral Disorder
Assessing facial weakness in myasthenia gravis with facial recognition software and deep learning
ObjectiveMyasthenia gravis (MG) is an autoimmune disease leading to fatigable muscle weakness. Extra-ocular and bulbar muscles are most commonly affected. We aimed to investigate whether facial weakness can be quantified automatically and used for diagnosis and disease monitoring.MethodsIn this cross-sectional study, we analyzed video recordings of 70 MG patients and 69 healthy controls (HC) with two different methods. Facial weakness was first quantified with facial expression recognition software. Subsequently, a deep learning (DL) computer model was trained for the classification of diagnosis and disease severity using multiple cross-validations on videos of 50 patients and 50 controls. Results were validated using unseen videos of 20 MG patients and 19 HC.ResultsExpression of anger (p = 0.026), fear (p = 0.003), and happiness (p Neurological Motor Disorder
The face of myasthenia gravis
Myasthenia gravis (MG) is characterized by fluctuating weakness and fatigability of skeletal muscles. In most patients, extraocular and bulbar muscles are affected first, leading to diplopia, ptosis, and weakness of facial muscles.(1)We recorded the faces of 38 healthy controls and 52 patients with MG while performing a standardized set of facial expressions. These images were averaged using Python version 3.8.0. This resulted in highly similar faces with no recognizable individual features. The only discernible differences are typical clinical hallmarks of the disease: ptosis and generalized facial weakness around the eyes and mouth resulting in less vivid facial expression (figure).Neurological Motor Disorder
Increased use of illicit drugs in a Dutch cluster headache population
Paroxysmal Cerebral Disorder
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Common genetic variants influence human subcortical brain structures
The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction