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The phenotypic diagnosis of von Willebrand disease (VWD) is a multistep process with classification dependent on the quantification of von Willebrand factor (VWF) multimeric structure. VWF multimer analysis is a technically challenging, lengthy and non‐standardised assay, usually performed in specialist laboratories. Recently, a new semi‐automated multimer assay, the Hydragel 5 von Willebrand multimers (H5VWM) has become available. This study, performed in two European centres, compared existing in‐house multimer assays to the H5VWM in individuals with and without VWD. Overall agreement of 91.1% was observed in 74 individuals with normal VWF levels, 57 patients grouped as type 1 VWD, 33 type 2A, 16 type 2B, 28 type 2M, 11 type 2N. Patients tested following Desmopressin or VWF concentrate, with thrombotic thrombocytopenic purpura and acquired von Willebrand syndrome were also evaluated. Many of the discrepancies between methods were in patients with genetic mutations linked to more than one type of VWD including p.R1374C/H and p.R1315C. Quantifiable multimer results were available within one working day. Densitometry improved the interpretation of the multimers with slight structural variations that were not apparent by visual inspection of the in‐house method. 5VWM was a rapid, sensitive, standardised assay which used existing technology and could be included as an initial screen of VWF multimers in a VWD diagnostic algorithm in conjunction with traditional multimer analysis.

In high-risk cutaneous squamous-cell carcinoma, adjuvant cemiplimab prolonged disease-free survival and reduced recurrence risk as compared with placebo. No new safety concerns with cemiplimab were seen.

Background Gaze processing deficits are a seminal, early, and enduring behavioral deficit in autism spectrum disorder (ASD); however, a comprehensive characterization of the neural processes mediating abnormal gaze processing in ASD has yet to be conducted. Methods This study investigated whole-brain patterns of neural synchrony during passive viewing of direct and averted eye gaze in ASD adolescents and young adults ( M Age  = 16.6) compared to neurotypicals (NT) ( M Age  = 17.5) while undergoing magnetoencephalography. Coherence between each pair of 54 brain regions within each of three frequency bands (low frequency (0 to 15 Hz), beta (15 to 30 Hz), and low gamma (30 to 45 Hz)) was calculated. Results Significantly higher coherence and synchronization in posterior brain regions (temporo-parietal-occipital) across all frequencies was evident in ASD, particularly within the low 0 to 15 Hz frequency range. Higher coherence in fronto-temporo-parietal regions was noted in NT. A significantly higher number of low frequency cross-hemispheric synchronous connections and a near absence of right intra-hemispheric coherence in the beta frequency band were noted in ASD. Significantly higher low frequency coherent activity in bilateral temporo-parieto-occipital cortical regions and higher gamma band coherence in right temporo-parieto-occipital brain regions during averted gaze was related to more severe symptomology as reported on the Autism Diagnostic Interview-Revised (ADI-R). Conclusions The preliminary results suggest a pattern of aberrant connectivity that includes higher low frequency synchronization in posterior cortical regions, lack of long-range right hemispheric beta and gamma coherence, and decreased coherence in fronto-temporo-parietal regions necessary for orienting to shifts in eye gaze in ASD; a critical behavior essential for social communication.

Autism spectrum disorder (ASD) is an etiologically and clinically heterogeneous group of neurodevelopmental disorders, diagnosed exclusively by the behavioral phenotype. The neural basis of altered social, communicative, somatosensory, and restricted and repetitive behaviors remains largely unknown. Magnetoencephalography (MEG) provides a vital method of inquiry to identify the neurophysiological mechanisms of ASD, better illuminate etiologically distinct subgroups, understand the developmental trajectories of aberrant connectivity and track outcome. MEG is a neuroimaging methodology that can localize sources of electrical activity within the brain with millisecond resolution by noninvasively measuring the magnetic fields arising from such activity. This review addresses the central MEG findings exploring auditory, visual and somatosensory processing, higher-order/executive functioning, and resting state in individuals with ASD over the past decade and a half. We offer a summary of emerging trends related to neurophysiological alterations, aberrant hemispheric specialization and connectivity, as well as limitations in the literature and recommendations for future MEG investigations.