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Brain differences linked to autism spectrum disorder (ASD) can manifest before observable symptoms. Studying these early neural precursors in larger and more diverse cohorts is crucial for advancing our understanding of developmental pathways and potentially facilitating earlier identification. EEG is an ideal tool for investigating early neural differences in ASD, given its scalability and high tolerability in infant populations. In this context, we integrated EEG into an existing multi-site MRI study of infants with a higher familial likelihood of developing ASD. This paper describes the comprehensive protocol established to collect longitudinal, high-density EEG data from infants across five sites as part of the Infant Brain Imaging Study (IBIS) Network and reports interim feasibility and data quality results. We evaluated feasibility by measuring the percentage of infants from whom we successfully collected each EEG paradigm. The quality of task-free data was assessed based on the duration of EEG recordings remaining after artifact removal. Preliminary analyses revealed low data loss, with average in-session loss rates at 4.16 % and quality control loss rates at 11.66 %. Overall, the task-free data retention rate, accounting for both in-session issues and quality control, was 84.16 %, with high consistency across sites. The insights gained from this preliminary analysis highlight key sources of data attrition and provide practical considerations to guide similar research endeavors. • Early brain differences linked to ASD have the potential to inform markers for earlier identification. • Multimodal studies of large and diverse cohorts are needed to effectively utilize brain differences as neural indicators. • We integrated an EEG protocol into an existing multi-site MRI study of infants with higher familial likelihood of ASD. • Preliminary data show high EEG collection success (96%) and an average retention of 480 seconds of clean, task-free data. • Feasibility and data quality were consistent across sites, highlighting our EEG protocol's adaptability and scalability. [ABSTRACT FROM AUTHOR]

Background Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features that emerge during the first years of life. Research indicates that abnormalities in brain connectivity are associated with these behavioral features. However, the inclusion of individuals past the age of onset of the defining behaviors complicates interpretation of the observed abnormalities: they may be cascade effects of earlier neuropathology and behavioral abnormalities. Our recent study of network efficiency in a cohort of 24-month-olds at high and low familial risk for ASD reduced this confound; we reported reduced network efficiencies in toddlers classified with ASD. The current study maps the emergence of these inefficiencies in the first year of life. Methods This study uses data from 260 infants at 6 and 12 months of age, including 116 infants with longitudinal data. As in our earlier study, we use diffusion data to obtain measures of the length and strength of connections between brain regions to compute network efficiency. We assess group differences in efficiency within linear mixed-effects models determined by the Akaike information criterion. Results Inefficiencies in high-risk infants later classified with ASD were detected from 6 months onward in regions involved in low-level sensory processing. In addition, within the high-risk infants, these inefficiencies predicted 24-month symptom severity. Conclusions These results suggest that infants with ASD, even before 6 months of age, have deficits in connectivity related to low-level processing, which contribute to a developmental cascade affecting brain organization and eventually higher-level cognitive processes and social behavior. [ABSTRACT FROM AUTHOR]

Purpose To compare the retrievability of 2 potentially retrievable inferior vena cava filter devices. Materials and Methods A retrospective, institutional review board–approved study of Celect (Cook, Inc, Bloomington, Indiana) and Option (Rex Medical, Conshohocken, Pennsylvania) filters was conducted over a 33-month period at a single institution. Fluoroscopy time, significant filter tilt, use of adjunctive retrieval technique, and strut perforation in the inferior vena cava were recorded on retrieval. Fisher exact test and Mann-Whitney-Wilcoxon test were used for comparison. Results There were 99 Celect and 86 Option filters deployed. After an average of 2.09 months (range, 0.3–7.6 mo) and 1.94 months (range, 0.47–9.13 mo), respectively, 59% (n = 58) of patients with Celect filters and 74.7% (n = 65) of patients with Option filters presented for filter retrieval. Retrieval failure rates were 3.4% for Celect filters versus 7.7% for Option filters ( P = .45). Median fluoroscopy retrieval times were 4.25 minutes for Celect filters versus 6 minutes for Option filters ( P = .006). Adjunctive retrieval techniques were used in 5.4% of Celect filter retrievals versus 18.3% of Option filter retrievals ( P = .045). The incidence of significant tilting was 8.9% for Celect filters versus 16.7% for Option filters ( P = .27). The incidence of strut perforation was 43% for Celect filters versus 0% for Option filters ( P < .0001). Conclusions Retrieval rates for the Celect and Option filters were not significantly different. However, retrieval of the Option filter required a significantly increased amount of fluoroscopy time compared with the Celect filter, and there was a significantly greater usage of adjunctive retrieval techniques for the Option filter. The Celect filter had a significantly higher rate of strut perforation. [ABSTRACT FROM AUTHOR]

Human large-scale functional brain networks are hypothesized to undergo significant changes over development. Little is known about these functional architectural changes, particularly during the second half of the first year of life. We used multivariate pattern classification of resting-state functional connectivity magnetic resonance imaging (fcMRI) data obtained in an on-going, multi-site, longitudinal study of brain and behavioral development to explore whether fcMRI data contained information sufficient to classify infant age. Analyses carefully account for the effects of fcMRI motion artifact. Support vector machines (SVMs) classified 6 versus 12 month-old infants (128 datasets) above chance based on fcMRI data alone. Results demonstrate significant changes in measures of brain functional organization that coincide with a special period of dramatic change in infant motor, cognitive, and social development. Explorations of the most different correlations used for SVM lead to two different interpretations about functional connections that support 6 versus 12-month age categorization. [ABSTRACT FROM AUTHOR]

Abstract: Background: A severe form of perinatal hypoxic-ischaemic encephalopathy (HIE) carries a high risk of perinatal death and severe neurological sequelae while in mild HIE only discrete cognitive disorders may occur. Aim: To compare total brain volumes and region-specific cortical measurements between young adults with mild-moderate perinatal HIE and a healthy control group of the same age. Methods: MR imaging was performed in a cohort of 14 young adults (9 males, 5 females) with a history of mild or moderate perinatal HIE. The control group consisted of healthy participants, matched with HIE group by age and gender. Volumetric analysis was done after the processing of MR images using a fully automated CIVET pipeline. We measured gyrification indexes, total brain volume, volume of grey and white matter, and of cerebrospinal fluid. We also measured volume, thickness and area of the cerebral cortex in the parietal, occipital, frontal, and temporal lobe, and of the isthmus cinguli, parahippocampal and cingulated gyrus, and insula. Results: The HIE patient group showed smaller absolute volumetric data. Statistically significant (p < 0.05) reductions of gyrification index in the right hemisphere, of cortical areas in the right temporal lobe and parahippocampal gyrus, of cortical volumes in the right temporal lobe and of cortical thickness in the right isthmus of the cingulate gyrus were found. Comparison between the healthy group and the HIE group of the same gender showed statistically significant changes in the male HIE patients, where a significant reduction was found in whole brain volume; left parietal, bilateral temporal, and right parahippocampal gyrus cortical areas; and bilateral temporal lobe cortical volume. Conclusions: Our analysis of total brain volumes and region-specific corticometric parameters suggests that mild-moderate forms of perinatal HIE lead to reductions in whole brain volumes. In the study reductions were most pronounced in temporal lobe and parahippocampal gyrus. [Copyright &y& Elsevier]

Abstract: The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X syndrome [FXS]). We investigated brain volume in 37 participants, using the fully automated Civet pipeline anatomical magnetic resonance imaging. 3 groups with intellectual deficiency: autism (AUT); its most associated FXS; and its most opposite Williams syndrome (WS) were compared with each other and with normal controls (NC). We report increased total and regional gray and white matter brain volume in AUT and FXS relative to WS and NC. These findings are discussed in light of the possibilities leading for the enlarged brain volume in children with the AUT phenotype. We speculate that this excess suggests reduced regression of neuronal processes “pruning” in cortical and subcortical regions in AUT/FXS, which may be due to a mutation in specific genes involved in pruning and/or a lack of socio-emotional environmental experience during a critical developmental period. [Copyright &y& Elsevier]

Abstract: The skin gives rise to a diverse spectrum of malignant tumours derived from the varied constituents of the epidermis and dermis. It is possible to discuss only a few of these in this article; the more common lesions derived from the epidermal keratinoctyes (basal and squamous cell carcinomas) together with melanomas (derived mainly from epidermal melanocytes) are presented. Some rarer but biologically aggressive tumours such as Merkel cell carcinoma and angiosarcoma are also discussed. Our understanding of the molecular biology of cutaneous tumours continues to evolve rapidly particularly for melanomas and in the coming years genetic profiling of individual tumours with targeted therapy is likely to play an important role in management. [Copyright &y& Elsevier]

The field of neuroinformatics has expanded dramatically during the past decade building on the development of new technologies in brain research as well as in computing. The activities are diverse, from data management and standardization that has become essential due to the large amount of data generated and the needs to share it, to the development of sophisticated software necessary for the analyses and visualization of such data. NeuroDevNet is a Canadian initiative, funded by the Networks of Centres of Excellence, devoted to the study of brain development with the goal to translate this knowledge into improved diagnosis, prevention and treatment of neurodevelopmental disorders. The NeuroDevNet Neuroinformatics Core is dedicated to helping researchers across the network with their data management, standardization and sharing, as well as to implement innovative solutions to facilitate their research. It is an essential component to NeuroDevNet, enabling active collaboration across the country and optimizing this unique endeavor. [Copyright &y& Elsevier]

The NeuroDevNet Autism Spectrum Disorder Demonstration Project interfaces at many levels with the network''s research themes and priorities. Our interdisciplinary team aims to improve understanding of genetic factors underlying vulnerability to autism spectrum disorders (ASDs) to develop better diagnostic strategies and, ultimately, to pinpoint molecular pathways relevant to developing biologically based treatments. Linking our existing longitudinal ASD cohorts with both genetics and neuroimaging studies will provide, for the first time, integrated data on how the genetic variation influences brain and behavioral development in ASD. Importantly, as our science progresses and we translate this information to the health care system, we will also educate policy makers, media, and business, so an informed society is prepared to capitalize on new genomic advances and effectively integrate these into health services for the broader community. We believe that this research has the potential to transform assessment and care for individuals with ASD. [Copyright &y& Elsevier]

Abstract: The skin gives rise to a diverse spectrum of malignant tumours derived from the varied constituents of the epidermis and dermis. It is possible to discuss only a few of these in this article; the more common lesions derived from the epidermal keratinoctyes (basal and squamous cell carcinomas) together with melanomas (derived mainly from epidermal melanocytes) are presented. Some rarer but biologically aggressive tumours such as Merkel cell carcinoma and angiosarcoma are also discussed. Our understanding of the molecular biology of cutaneous tumours continues to evolve rapidly particularly for melanomas and in the coming years genetic profiling of individual tumours with targeted therapy is likely to play an important role in management. [ABSTRACT FROM AUTHOR]

Background: The optimal method for closing gastrotomies after transgastric instrumentation has yet to be determined. Objective: To compare gastrotomy closure with endoscopically delivered bioabsorbable plugs with no closure. Design: Prospective, controlled study. Setting: Animal laboratory. Subjects: Twenty-three dogs undergoing endoscopic transgastric peritoneoscopy between July and August 2007. Interventions: Endoscopic anterior wall gastrotomies were performed with balloon dilation to allow passage of the endoscope into the peritoneal cavity. The plug group (n = 12) underwent endoscopic placement of a 4 × 6-cm bioabsorbable mesh plug in the perforation, whereas the no-treatment group (n = 11) did not. Animals underwent necropsy 2 weeks after the procedure. Main Outcome Measurements: Complications related to gastrotomy closure, gastric burst pressures, relationship of burst perforation to gastrotomy, and the degree of adhesions and inflammation at the gastrotomy site. Results: After the gastrotomy, all dogs survived without any complications. At necropsy, burst pressures were 77 ± 11 mm Hg and 76 ± 15 mm Hg (P = .9) in the plug group and no-treatment group, respectively. Perforations occurred at the site of the gastrotomy in 2 of 12 animals in the plug group and in none of the 11 dogs in the no-treatment group (P = .5). Finally, there were minimal adhesions in all dogs (11/11) in the no-treatment group and minimal adhesions in 3 and moderate adhesions or inflammatory masses in 9 of the 12 animals in the plug group (P = .004). Limitations: Small number of subjects, animal model, no randomization. Gastrotomy trauma during short peritoneoscopy may not be applicable to longer procedures. Conclusions: After endoscopic gastrotomy, animals that were left untreated did not show any clinical ill effects and demonstrated adequate healing, with fewer adhesions and less inflammation compared with those treated with a bioabsorbable plug. [Copyright &y& Elsevier]

Abstract: The traditional dichotomous classification of Spitz naevus versus Spitzoid melanoma is challenged by a group of lesions that deviates from the prototypic Spitz naevus; these lesions (Spitzoid tumours of uncertain malignant potential [STUMP]) remain difficult to define using objective criteria. Clinical series and comparative molecular genetic studies support the concept that Spitzoid lesions form a family of melanocytic tumours distinct from ordinary naevi and common types of melanoma. A bipolar classification of naevus versus melanoma does not readily accommodate the recognized diverse spectrum of pathological features and behaviour observed in Spitz lesions and it has been proposed that they be viewed as part of a continuum with significant modification of the current terminology. These proposals remain controversial. [Copyright &y& Elsevier]

Background: Filaggrin is a key protein involved in skin barrier function. Recently, mutations in the filaggrin gene, FLG, were identified in European families with ichthyosis vulgaris (IV) and shown to be an important predisposing factor for atopic dermatitis (AD). Objective: To study the role of FLG mutations in IV/AD in Japan. Methods: The known filaggrin mutations were studied by genotyping and new mutations identified by DNA sequencing. Results: The European-specific mutations R501X and 2282del4 were absent from 253 Japanese individuals. We therefore sequenced the FLG gene in 4 Japanese families with IV and identified 2 novel mutations, 3321delA and S2554X. Immunohistologic and ultrastructural observations indicated that both truncation mutations lead to a striking reduction of keratohyalin granules in the epidermis. We screened 143 Japanese patients with AD for these FLG null mutations and identified them in 8 patients with AD (5.6%), including S2554X in 6 patients (4.2%) and 3321delA in 2 patients (1.4%). Both null variants were absent from 156 unrelated Japanese nonatopic and nonichthyotic controls, giving a significant statistical association between the FLG mutations and AD (χ2 P value, .0015). This is the first report of FLG mutations in a non-European population. Conclusion: Our data indicate that FLG mutations in Japan are unique from those found in European-origin populations. Clinical implications: Filaggrin null variants are also significant predisposing factors for AD in Japan and, on the basis of the recent European studies, may predict a more severe and persistent form of atopy. [Copyright &y& Elsevier]

Summary: Primary cutaneous carcinosarcoma is a biphasic tumour containing both malignant epithelial and malignant mesenchymal elements. To date, only 26 cases have been reported in the literature. However, our findings suggest that this may reflect underreporting and possibly underdiagnosis. We present five cases and a comprehensive review of the literature: The disease most commonly presents in the eighth and ninth decades of life, is twice as common in males and may be related to sun exposure. Surgery is the primary therapeutic modality. Despite treatment, 27% of cases developed metastatic disease. Both epithelial and mesenchymal elements have been implicated in disease spread. We hope to raise awareness of this uncommon but serious disease and to assist clinicians in its management. [Copyright &y& Elsevier]

Summary: Langerhans cell histiocytosis (LCH) has been described in association with a variety of neoplasms preceding, after, or synchronous with the other tumor. In some cases, a neoplasm may arise as a complication of therapy for LCH, and in others, the association may be coincidental. Synchronous occurrence has been reported most commonly in association with malignant lymphoma in which discrete proliferations of Langerhans cells (LCs) histologically indistinguishable from LCH are seen. In most cases, these LCs are closely related to or intermingling with the primary pathology. The nature of LCs in this context remains elusive with debate as to whether they represent a true clonal neoplasm or an exaggerated reactive phenomenon. The lack of evidence for LCH progression or disease elsewhere strongly supports the latter. We have encountered 5 examples of LCH-like proliferations occurring in the context of other lymphoproliferative disorders. These include 2 cases of mycosis fungoides and 1 of cutaneous B-cell pseudolymphoma, associations that to our knowledge have not been described before. Two patients were female, and the clonality of the LC proliferation was assessed using laser capture microdissection and the human androgen receptor. The results showed that the LCs forming discrete nodules in a case of cutaneous B-cell pseudolymphoma and a case of Hodgkin''s lymphoma were polyclonal. This suggests that, at least in a proportion of cases, the aggregates of LCs occasionally identified within other lymphoproliferative lesions represent a reactive proliferation rather than a potentially aggressive second neoplasm. [Copyright &y& Elsevier]

Abstract: This contribution focuses on tumours derived from epidermal cells and those derived from constituents of the dermis. [Copyright &y& Elsevier]

Cognitive neuroscience aims to provide biologically relevant accounts of cognition. Contemporary research linking spatial patterns of neural activity to psychological constructs describes 'where' hypothesised functions occur, but not 'how' these regions contribute to cognition. Technological, empirical, and conceptual advances allow this mechanistic gap to be closed by embedding patterns of functional activity in macro- and microscale descriptions of brain organisation. Recent work on the default mode network (DMN) and the multiple demand network (MDN), for example, highlights a microarchitectural landscape that may explain how activity in these networks integrates varied information, thus providing an anatomical foundation that will help to explain how these networks contribute to many different cognitive states. This perspective highlights emerging insights into how microarchitecture can constrain network accounts of human cognition. Characterising the mechanisms of human cognition can benefit from integrating local microstructural properties with the macroscale organisation of the brain. Digitised datasets of the human brain, including histology, brain maps, transcriptomics, and high-resolution imaging, provide unprecedented opportunities to link microarchitectural features to functional networks that contribute to complex thought. Microarchitectural heterogeneity of higher cognitive networks [e.g., the default mode network (DMN) and multiple demand network (MDN)] underpins their broad involvements in cognition. The positioning of the DMN and the MDN with respect to hierarchical and parallel processing streams supports and sheds light onto their functional differences. Complex functional dynamics and the inter-relationship between functional networks may be better understood by taking a multidimensional perspective informed by changes in local microarchitecture. [ABSTRACT FROM AUTHOR]

Objective: The objective of the study was to characterize total and regional volumetric brain growth in healthy fetuses during the second and third trimesters of pregnancy, using an automated method. Study Design: We developed and validated an automated method to quantify global and regional in vivo brain volumes using fetal magnetic resonance imaging. We then computed the percentage of growth for each brain structure in a cohort of 64 healthy fetuses (25.4-36.6 weeks'' gestational age). Results: The cerebellum demonstrated the greatest maturation rate, with a 4-fold increase (384%) in volume between 25.4 and 36.6 weeks, and a relative growth rate of 12.87% per week. Both total brain and cerebral volumes increased by 230% and brain stem volume by 134% over the same gestational age period. Conversely, lateral ventricular volume decreased by 4.18% per week. Conclusion: The availability and ongoing validation of normative fetal brain growth trajectories will provide important tools for early detection of impaired fetal brain growth upon which to manage high-risk pregnancies. [ABSTRACT FROM AUTHOR]

Abstract: Malignant eccrine spiradenoma (MES) is a rare adnexal tumour derived from cutaneous sweat glands. We describe a case of MES arising on the tip of the right middle toe. The lesion had been managed as a non-specific chronic ulcer for 4 years. The lesion was treated by elective amputation. We wish to emphasise through this case report the importance of keeping this rare but potentially lethal tumour in mind when managing chronic non-healing ulcers in extremities. [Copyright &y& Elsevier]

Abstract: The choice of representation has a fundamental influence on the network analysis results of an empirical data set. The answers to two basic questions — how to define a node and how to define an edge between a pair of nodes — are not obvious in the network analysis of brain imaging data. We considered the first question in the case of magnetic resonance imaging (MRI)-based cortical thickness networks. We selected network nodes to represent vertices of a cortical surface mesh or cortical brain regions. The first network represents the maximal level of detail available in the analysis of cortical thickness networks, while the latter network represents the typical level of detail in the current network analysis studies. We compared the network analysis results between these two representations. The basic network measures behaved approximately as expected when the level of detail increased. However, the overall connectivity of nodes was greater in the vertex level, degree of clustering was smaller in the vertex level, and the node centralities were different between the levels. Further, many parameters of vertex-level network were more robust to the selection of the correlation threshold used to define the edges of network. We conclude that albeit many qualitative network properties were consistent between the two resolution levels, the vertex-level resolution revealed details that were not visible at the regional-level networks, and this additional detail could be useful for some applications. Finally, a similar methodology as the one used here could be used to study effects of the sampling density in other brain-imaging-based networks, for example, in resting-state functional MRI. [Copyright &y& Elsevier]

Abstract: Computer simulations have played a critical role in functional magnetic resonance imaging (fMRI) research, notably in the validation of new data analysis methods. Many approaches have been used to generate fMRI simulations, but there is currently no generic framework to assess how realistic each one of these approaches may be. In this article, a statistical technique called parametric bootstrap was used to generate a simulation database that mimicked the parameters found in a real database, which comprised 40 subjects and five tasks. The simulations were evaluated by comparing the distributions of a battery of statistical measures between the real and simulated databases. Two popular simulation models were evaluated for the first time by applying the bootstrap framework. The first model was an additive mixture of multiple components and the second one implemented a non-linear motion process. In both models, the simulated components included the following brain dynamics: a baseline, physiological noise, neural activation and random noise. These models were found to successfully reproduce the relative variance of the components and the temporal autocorrelation of the fMRI time series. By contrast, the level of spatial autocorrelation was found to be drastically low using the additive model. Interestingly, the motion process in the second model intrisically generated some slow time drifts and increased the level of spatial autocorrelations. These experiments demonstrated that the bootstrap framework is a powerful new tool that can pinpoint the respective strengths and limitations of simulation models. [Copyright &y& Elsevier]