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The folding of the human brain mostly takes place in utero, making it challenging to study. After a few pioneer studies looking into it in post-mortem foetal specimen, modern approaches based on neuroimaging have allowed the community to investigate the folding process in vivo, its normal progression, its early disturbances, and its relationship to later functional outcomes. In this review article, we aimed to first give an overview of the current hypotheses on the mechanisms governing cortical folding. After describing the methodological difficulties raised by its study in fetuses, neonates and infants with magnetic resonance imaging (MRI), we reported our current understanding of sulcal pattern emergence in the developing brain. We then highlighted the functional relevance of early sulcal development, through recent insights about hemispheric asymmetries and early factors influencing this dynamic such as prematurity. Finally, we outlined how longitudinal studies have started to relate early folding markers and the child's sensorimotor and cognitive outcome. Through this review, we hope to raise awareness on the potential of studying early sulcal patterns both from a fundamental and clinical perspective, as a window into early neurodevelopment and plasticity in relation to growth in utero and postnatal environment of the child., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

The extreme variability of the folding pattern of the human cortex makes the recognition of cortical sulci, both automatic and manual, particularly challenging. Reliable identification of the human cortical sulci in its entirety, is extremely difficult and is practiced by only a few experts. Moreover, these sulci correspond to more than a hundred different structures, which makes manual labeling long and fastidious and therefore limits access to large labeled databases to train machine learning. Here, we seek to improve the current model proposed in the Morphologist toolbox, a widely used sulcus recognition toolbox included in the BrainVISA package. Two novel approaches are proposed: patch-based multi-atlas segmentation (MAS) techniques and convolutional neural network (CNN)-based approaches. Both are currently applied for anatomical segmentations because they embed much better representations of inter-subject variability than approaches based on a single template atlas. However, these methods typically focus on voxel-wise labeling, disregarding certain geometrical and topological properties of interest for sulcus morphometry. Therefore, we propose to refine these approaches with domain specific bottom-up geometric constraints provided by the Morphologist toolbox. These constraints are utilized to provide a single sulcus label to each topologically elementary fold, the building blocks of the pattern recognition problem. To eliminate the shortcomings associated with the Morphologist's pre-segmentation into elementary folds, we complement this regularization scheme using a top-down perspective which triggers an additional cleavage of the elementary folds when required. All the newly proposed models outperform the current Morphologist model, the most efficient being a CNN U-Net-based approach which carries out sulcus recognition within a few seconds., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020. Published by Elsevier B.V.)

Huntington's disease (HD) is an inherited, autosomal dominant disorder that is characteristically thought of as a degenerative disorder. Despite cellular and molecular grounds suggesting HD could also impact normal development, there has been scarce systems-level data obtained from in vivo human studies supporting this hypothesis. Sulcus-specific morphometry analysis may help disentangle the contribution of coexisting neurodegenerative and neurodevelopmental processes, but such an approach has never been used in HD. Here, we investigated cortical sulcal depth, related to degenerative process, as well as cortical sulcal length, related to developmental process, in early-stage HD and age-matched healthy controls. This morphometric analysis revealed significant differences in the HD participants compared with the healthy controls bilaterally in the central and intra-parietal sulcus, but also in the left intermediate frontal sulcus and calcarine fissure. As the primary visual cortex is not connected to the striatum, the latter result adds to the increasing in vivo evidence for primary cortical degeneration in HD. Those sulcal measures that differed between HD and healthy populations were mainly atrophy-related, showing shallower sulci in HD. Conversely, the sulcal morphometry also revealed a crucial difference in the imprint of the Sylvian fissure that could not be related to loss of grey matter volume: an absence of asymmetry in the length of this fissure in HD. Strong asymmetry in that cortical region is typically observed in healthy development. As the formation of the Sylvian fissure appears early in utero, and marked asymmetry is specifically found in this area of the neocortex in newborns, this novel finding likely indicates the foetal timing of a disease-specific, genetic interplay with neurodevelopment., Competing Interests: Declaration of Competing Interest The authors declare no competing financial interests., (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)

Introduction: Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) is a syndrome that combines dermatological, articular and osseous inflammatory manifestations. Bilateral laryngeal immobility relative to cricoarytenoid joint origin is very uncommon. This article presents a case of bilateral cricoarytenoid joint ankylosis in a SAPHO syndrome context., Case Report: A 53-year-old patient presenting with a two year history of intermittent bouts of dyspnea. A SAPHO syndrome was discussed on repeated thoracic CT-scan. The link between dyspnea and SAPHO syndrome had not been made immediately given the absence of any known anteriority. However, having ruled out other etiologies and after having had to perform a tracheotomy due a worsening of the respiratory condition, this diagnosis was considered. Treatment by corticosteroids and infliximab permitted a clinical improvement of the patient., Conclusion: This clinical case report should increase awareness of possible cricoarytenoid joint involvement in SAPHO., (Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

Prenatal processes are likely critical for the differences in cognitive ability and disease risk that unfold in postnatal life. Prenatally established cortical folding patterns are increasingly studied as an adult proxy for earlier development events - under the as yet untested assumption that an individual's folding pattern is developmentally fixed. Here, we provide the first empirical test of this stability assumption using 263 longitudinally-acquired structural MRI brain scans from 75 typically developing individuals spanning ages 7 to 32 years. We focus on the anterior cingulate cortex (ACC) - an intensely studied cortical region that presents two qualitatively distinct and reliably classifiable sulcal patterns with links to postnatal behavior. We show - without exception-that individual ACC sulcal patterns are fixed from childhood to adulthood, at the same time that quantitative anatomical ACC metrics are undergoing profound developmental change. Our findings buttress use of folding typology as a postnatally-stable marker for linking variations in early brain development to later neurocognitive outcomes in ex utero life., (Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Segregating the human cortex into distinct areas based on structural connectivity criteria is of widespread interest in neuroscience. This paper presents a groupwise connectivity-based parcellation framework for the whole cortical surface using a new high quality diffusion dataset of 79 healthy subjects. Our approach performs gyrus by gyrus to parcellate the whole human cortex. The main originality of the method is to compress for each gyrus the connectivity profiles used for the clustering without any anatomical prior information. This step takes into account the interindividual cortical and connectivity variability. To this end, we consider intersubject high density connectivity areas extracted using a surface-based watershed algorithm. A wide validation study has led to a fully automatic pipeline which is robust to variations in data preprocessing (tracking type, cortical mesh characteristics and boundaries of initial gyri), data characteristics (including number of subjects), and the main algorithmic parameters. A remarkable reproducibility is achieved in parcellation results for the whole cortex, leading to clear and stable cortical patterns. This reproducibility has been tested across non-overlapping subgroups and the validation is presented mainly on the pre- and postcentral gyri., (Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.)

We present a method for fMRI data group analysis that makes the link between two distinct frameworks: surface-based techniques, which process data in the domain defined by the surface of the cortex, and structural techniques, which use object-based representations of the data as opposed to voxel-based ones. This work is a natural surface-based extension of the volume-based structural approach presented in a previous paper. A multi-scale surface-based representation of individual activation maps is first computed for each subject. Then the inter-subject matching and the activation detection decision are performed jointly by optimization of a Markovian model. Finally, a significance measure is computed in a non-parametric way for the results, in order to assess their relevance and control the risk of type I error. The method is applied on simulated and real data and the results are compared to those produced by standard analyses. The surface-based structural analysis is shown to be particularly robust to inter-subject spatial variability and to produce relevant results with good specificity and sensitivity. We also demonstrate the advantages of the surface-based approach by comparing with the results of a 3D structural analysis., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Brain mapping techniques pair similar anatomical information across individuals. In this context, spatial normalization is mainly used to reduce inter-subject differences to improve comparisons. These techniques may benefit from anatomically identified landmarks useful to drive the registration. Automatic labeling, classification or segmentation techniques provide such labels. Most of these approaches depend strongly on normalization, as much as normalization depends on landmark accuracy. We propose in this paper a coherent Bayesian framework to automatically identify approximately 60 sulcal labels per hemisphere based on a probabilistic atlas (a mixture of spam models: Statistical Probabilistic Anatomy Map) estimating simultaneously normalization parameters. This way, the labelization method provides also with no extra computational costs a new automatically constrained registration of sulcal structures. We have limited our study to global affine and piecewise affine registration. The suggested global affine approach outperforms significantly standard affine intensity-based normalization techniques in term of sulci alignments. Further, by combining global and local joint labeling, a final mean recognition rate of 86% has been obtained with much more reliable labeling posterior probabilities. The different methods described in this paper have been integrated since the release version 3.2.1 of the BrainVISA software platform (Riviére et al., 2009)., (Copyright © 2011 Elsevier B.V. All rights reserved.)

This paper advocates the use of shape descriptors based on moments of 3D coordinates for morphometry of the cortical sulci. These descriptors, which have been introduced more than a decade ago, are invariant relatively to rotations, translations and scale and can be computed for any topology. A rapid insight into the derivation of these invariants is proposed first. Then, their potential to characterize shapes is shown from a principal component analysis of the 12 first invariants computed for 12 different deep brain structures manually drawn for 7 different brains. Finally, these invariants are used to find some correlates of handedness and sex among the shapes of 116 different cortical sulci automatically identified in each of 142 brains of the ICBM database.

In this paper we propose a generic automatic approach for the parcellation of the cortical surface into labeled gyri. These gyri are defined from a set of pairs of sulci selected by the user. The selected sulci are first automatically identified in the data, then projected onto the cortical surface. The parcellation stems from two nested Voronoï diagrams computed geodesically to the cortical surface. The first diagram provides the zones of influence of the sulci. The boundary between the two zones of influence of each selected pair of sulci stands for a gyrus seed. A second diagram yields the gyrus parcellation. The distance underlying the Voronoï diagram allows the method to interpolate the gyrus boundaries where the limiting sulci are interrupted. The method is illustrated with 12 different hemispheres.

This paper describes a complete system allowing automatic recognition of the main sulci of the human cortex. This system relies on a preprocessing of magnetic resonance images leading to abstract structural representations of the cortical folding patterns. The representation nodes are cortical folds, which are given a sulcus name by a contextual pattern recognition method. This method can be interpreted as a graph matching approach, which is driven by the minimization of a global function made up of local potentials. Each potential is a measure of the likelihood of the labelling of a restricted area. This potential is given by a multi-layer perceptron trained on a learning database. A base of 26 brains manually labelled by a neuroanatomist is used to validate our approach. The whole system developed for the right hemisphere is made up of 265 neural networks. The mean recognition rate is 86% for the learning base and 76% for a generalization base, which is very satisfying considering the current weak understanding of the variability of the cortical folding patterns.

Epidemiologic studies show that weight loss is commonly associated with Alzheimer's disease. It would be a manifestation of the disease itself. It is not easy to explain weight loss as subjects with Alzheimer's disease have adequete caloric intakes. Several hypothesis are considered: increased energy expenditure, biologic disturbances, dysfunction in body weight regulation, mesial cortex temporal atrophy. However, at the present time, no study can give a proper explanation. The amelioration of nutritional problems, which lead to many complications (infections, bedsores, bedridden subjects, etc), could be one of the best strategies to lessen the burden of the disease.

A group of 27 men with early coronary disease (mean age: 52 years) with cholesterol levels below 6.45 mmol/l and triglycerides levels below 2.3 mmol/l, who underwent a coronary angiography, is compared with a control group of 18 men (CG) with normal angiography. The only significant differences between the two groups are: a triglycerides levels slightly higher in the CM group (1.55 + 0.4 mmol/l) vs 1.18 +/- 0.37 mmol/l, p 0.001), a HDL-cholesterol level slightly lower in the CM group (1.08 +/- 0.19 mmol/l vs 1.26 +/- 0.21 mmol/l, p 0.01) and an Apo AI/Apo B ratio slightly lower in the CM group (1.02 +/- 0.24 vs 1.18 +/- 0.17, p 0.005). In the CM group, 21 patients in 27 present a lipid abnormality requiring, according to the European consensus recommendations, the prescription of hygieno-dietetic measures. In the CM group, 10 patients in 18 present a minimal lipid abnormality, also requiring hygieno-dietetic measures. These results are compared with the recommendations of the European consensus.

A new case of partial monosomy of the short arm of chromosome 12 is described in a 17-year-old girl and compared with other observations reported in the literature. The breakpoints were localized to region 12p11----12p.12.1. Qualitative and quantitative activity of LDHB allowed a precise assignment of the structural gene to sub-band 12p12.2.

Partial trisomy for the long arm of chromosome 15 was detected in a 21-year-old girl with severe growth and mental retardation. A balanced reciprocal translocation - t(7;15)(q35;q14) - is present in the mother.