Precision grip in congenital and acquired hemiparesis: similarities in impairments and implications for neurorehabilitation - review

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Yannick eBleyenheuft

2014-06-01

Full Text Available Background: Patients with congenital and acquired hemiparesis incur long-term functional deficits, among which the loss of prehension that may impact their functional independence. Identifying, understanding and comparing the underlying mechanisms of prehension impairments represent an opportunity to better adapt neurorehabilitationObjective: The present review aims to provide a better understanding of precision grip deficits in congenital and acquired hemiparesis and to determine whether the severity and type of fine motor control impairments depend on whether or not the lesions are congenital or acquired in adulthood. Methods: Using combinations of the following key words: fingertip force, grip force, precision grip, cerebral palsy, stroke, pubmed and Scopus databases were used to search studies from 1984 to 2013. Results: Individuals with both congenital and acquired hemiparesis were able to some extent to use anticipatory motor control in precision grip tasks, even if this control was impaired in the paretic hand. In both congenital or acquired hemiparesis, the ability to plan efficient anticipatory motor control when the less-affected hand is used provides a possibility to remediate impairments in anticipatory motor control of the paretic hand. Conclusion: Surprisingly we observed very few differences between the results of studies in children with congenital hemiplegia and stroke patients. We suggest that the underlying specific strategies of neurorehabilitation developed for each one could benefit the other.

Impaired Pitch Perception and Memory in Congenital Amusia: The Deficit Starts in the Auditory Cortex

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Albouy, Philippe; Mattout, Jeremie; Bouet, Romain; Maby, Emmanuel; Sanchez, Gaetan; Aguera, Pierre-Emmanuel; Daligault, Sebastien; Delpuech, Claude; Bertrand, Olivier; Caclin, Anne; Tillmann, Barbara

2013-01-01

Congenital amusia is a lifelong disorder of music perception and production. The present study investigated the cerebral bases of impaired pitch perception and memory in congenital amusia using behavioural measures, magnetoencephalography and voxel-based morphometry. Congenital amusics and matched control subjects performed two melodic tasks (a…

Behavioral effects of congenital ventromedial prefrontal cortex malformation

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Boes Aaron D

2011-12-01

Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

Reversibility of cortical hyperostosis following long-term prostaglandin E1 therapy in infants with ductus-dependent congenital heart disease

DEFF Research Database (Denmark)

Høst, A; Halken, S; Andersen, P E

1988-01-01

Two neonates with complex cyanotic congenital heart disease, receiving long-term prostaglandin E1 infusion, for 59 and 78 days respectively, demonstrated significant radiographic changes of symmetric cortical hyperostosis of the long bones. Bone biopsies from one of the patients elucidated...

Cortical Visual Impairment

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... resolves by one year of life. Is “cortical blindness” the same thing as CVI? Cortical blindness is ... What visual characteristics are associated with CVI? • Distinct color preferences • Variable level of vision loss, often demonstrating ...

Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesis.

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Juenger, Hendrik; Koerte, Inga K; Muehlmann, Marc; Mayinger, Michael; Mall, Volker; Krägeloh-Mann, Ingeborg; Shenton, Martha E; Berweck, Steffen; Staudt, Martin; Heinen, Florian

2014-11-01

Early unilateral brain lesions can lead to different types of corticospinal (re-)organization of motor networks. In one group of patients, the contralesional hemisphere exerts motor control not only over the contralateral non-paretic hand but also over the (ipsilateral) paretic hand, as the primary motor cortex is (re-)organized in the contralesional hemisphere. Another group of patients with early unilateral lesions shows "normal" contralateral motor projections starting in the lesioned hemisphere. We investigated how these different patterns of cortical (re-)organization affect interhemispheric transcallosal connectivity in patients with congenital hemiparesis. Eight patients with ipsilateral motor projections (group IPSI) versus 7 patients with contralateral motor projections (group CONTRA) underwent magnetic resonance diffusion tensor imaging (DTI). The corpus callosum (CC) was subdivided in 5 areas (I-V) in the mid-sagittal slice and volumetric information. The following diffusion parameters were calculated: fractional anisotropy (FA), trace, radial diffusivity (RD), and axial diffusivity (AD). DTI revealed significantly lower FA, increased trace and RD for group IPSI compared to group CONTRA in area III of the corpus callosum, where transcallosal motor fibers cross the CC. In the directly neighboring area IV, where transcallosal somatosensory fibers cross the CC, no differences were found for these DTI parameters between IPSI and CONTRA. Volume of callosal subsections showed significant differences for area II (connecting premotor cortices) and III, where group IPSI had lower volume. The results of this study demonstrate that the callosal microstructure in patients with congenital hemiparesis reflects the type of cortical (re-)organization. Early lesions disrupting corticospinal motor projections to the paretic hand consecutively affect the development or maintenance of transcallosal motor fibers. Copyright © 2014 European Paediatric Neurology Society

Causes of visual impairment in children: a study of 3,210 cases.

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Haddad, Maria Aparecida Onuki; Sei, Mayumi; Sampaio, Marcos Wilson; Kara-José, Newton

2007-01-01

To determine causes of visual impairment in children at the Low Vision Service of the Ophthalmic Clinic at the University of São Paulo and at the Brazilian Association for the Visually Impaired People (Laramara), located in São Paulo, Brazil. This study evaluated 3,210 visually impaired children (49% female, 51% male; average age, 5.9 years). Visual impairment was present in 57% (visually impaired group) and 43% presented another associated disability (multiple disability group). The main causes of visual impairment in the visually impaired group were toxoplasmic macular retinochoroiditis (20.7%), retinal dystrophies (12.2%), retinopathy of prematurity (11.8%), ocular malformation (11.6%), congenital glaucoma (10.8%), optic atrophy (9.7%), and congenital cataracts (7.1%). The main causes of visual impairment in the multiple disability group were optic atrophy (37.7%), cortical visual impairment (19.7%), toxoplasmic macular retinochoroiditis (8.6%), retinopathy of prematurity (7.6%), ocular malformation (6.8%), congenital cataracts (6.1%), and degenerative disorders of the retina and macula (4.8%). The retina was the most frequently affected anatomic site in the visually impaired group (49.2%) and the optic nerve in the multiple disability group (39%). Primary, secondary, and tertiary prevention efforts for childhood blindness and visual rehabilitation must be considered in Latin America.

DECIBEL study: Congenital cytomegalovirus infection in young children with permanent bilateral hearing impairment in the Netherlands

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Korver, A. M. H.; de Vries, J. J. C.; Konings, S.; de Jong, J. W.; Dekker, F. W.; Vossen, A. C. T. M.; Frijns, J. H. M.; Oudesluys-Murphy, A. M.; Wever, C. C.; Beers, M.; Soede, W.; Kant, S. G.; van den Akker-van Marle, M. E.; Rieffe, C.; Ens-Dokkum, M. H.; van Straaten, H. L. M.; Meuwese-Jongejeugd, J.; Elvers, B.; Loeber, G.; Maré, M. J.; Van Zanten, G. A.; Goedegebure, A.; Coster, F.; de Leeuw, M.; Dijkhuizen, J.; Scharloo, M.; Hoeben, D.; Rijpma, G.; Graef, W.; Linschoten, D.; Kuijper, J.; Hof, N. J.; Pans, D.; Jorritsma, F.; van Beurden, M.; ter Huurne, C. T.; Brienesse, P.; Koldewijn, G. J.; Letourneur, K. G.; Seekles, L.; Thijssen, A.; Lievense, A.; van Egdom-van der Wind, M.; Theunissen, S. C. P. M.; Mooij, S.

2009-01-01

A significant number of asymptomatic newborns infected with congenital cytomegalovirus (CMV) will present with permanent childhood hearing impairment (PCHI) during early childhood. To investigate the role of congenital CMV infection in causing PCHI in the Netherlands, and assess the efficacy of two

Cortical visual impairment: Characteristics and treatment

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Vučinić Vesna

2014-01-01

Full Text Available According to the latest studies, Cortical visual impairment – CVI is one of the most common causes of problems and difficulties in visual functioning. It results from the impairment of the central part of visual system, i.e. visual cortex, posterior visual pathway, or both. The diagnosis is usually made in the first three years of life. The aim of this paper is to present the characteristics of children with CVI, and the strategies used for treatment. CVI has a negative impact on almost all developmental domains, visual-perceptive skills, motor skills, cognitive skills, and social skills. In children with CVI, vision ranges from the total inability to see to minimal visual perceptive difficulties, while more than 50% have multiple disabilities. Due to the progress in understanding the patterns of neuron activity and neuroplasticity, as well as the intensive studies of strengths and weaknesses of children with CVI, special treatment has been designed and performed in the last few decades, which provides optimal visual functioning in everyday life for these children.

Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome.

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Harper, Ronald M; Kumar, Rajesh; Macey, Paul M; Harper, Rebecca K; Ogren, Jennifer A

2015-01-01

Congenital central hypoventilation syndrome (CCHS) patients show major autonomic alterations in addition to their better-known breathing deficiencies. The processes underlying CCHS, mutations in the PHOX2B gene, target autonomic neuronal development, with frame shift extent contributing to symptom severity. Many autonomic characteristics, such as impaired pupillary constriction and poor temperature regulation, reflect parasympathetic alterations, and can include disturbed alimentary processes, with malabsorption and intestinal motility dyscontrol. The sympathetic nervous system changes can exert life-threatening outcomes, with dysregulation of sympathetic outflow leading to high blood pressure, time-altered and dampened heart rate and breathing responses to challenges, cardiac arrhythmia, profuse sweating, and poor fluid regulation. The central mechanisms contributing to failed autonomic processes are readily apparent from structural and functional magnetic resonance imaging studies, which reveal substantial cortical thinning, tissue injury, and disrupted functional responses in hypothalamic, hippocampal, posterior thalamic, and basal ganglia sites and their descending projections, as well as insular, cingulate, and medial frontal cortices, which influence subcortical autonomic structures. Midbrain structures are also compromised, including the raphe system and its projections to cerebellar and medullary sites, the locus coeruleus, and medullary reflex integrating sites, including the dorsal and ventrolateral medullary nuclei. The damage to rostral autonomic sites overlaps metabolic, affective and cognitive regulatory regions, leading to hormonal disruption, anxiety, depression, behavioral control, and sudden death concerns. The injuries suggest that interventions for mitigating hypoxic exposure and nutrient loss may provide cellular protection, in the same fashion as interventions in other conditions with similar malabsorption, fluid turnover, or hypoxic exposure.

Impaired Neural Structure and Function Contributing to Autonomic Symptoms in Congenital Central Hypoventilation Syndrome

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Ronald M Harper

2015-10-01

Full Text Available Congenital central hypoventilation syndrome (CCHS patients show major autonomic alterations in addition to their better-known breathing deficiencies. The processes underlying CCHS, mutations in the PHOX2B gene, target autonomic neuronal development, with frame shift extent contributing to symptom severity. Many autonomic characteristics, such as impaired pupillary constriction and poor temperature regulation, reflect parasympathetic alterations, and can include disturbed alimentary processes, with malabsorption and intestinal motility dyscontrol. The sympathetic nervous system changes can exert life-threatening outcomes, with dysregulation of sympathetic outflow leading to high blood pressure, time-altered and dampened heart rate and breathing responses to challenges, cardiac arrhythmia, profuse sweating, and poor fluid regulation. The central mechanisms contributing to failed autonomic processes are readily apparent from structural and functional magnetic resonance imaging studies, which reveal substantial cortical thinning, tissue injury, and disrupted functional responses in hypothalamic, hippocampal, posterior thalamic, and basal ganglia sites and their descending projections, as well as insular, cingulate, and medial frontal cortices, which influence subcortical autonomic structures. Midbrain structures are also compromised, including the raphe system and its projections to cerebellar and medullary sites, the locus coeruleus, and medullary reflex integrating sites, including the dorsal and ventrolateral medullary nuclei. The damage to rostral autonomic sites overlaps metabolic, affective and cognitive regulatory regions, leading to hormonal disruption, anxiety, depression, behavioral control, and sudden death concerns. The injuries suggest that interventions for mitigating hypoxic exposure and nutrient loss may provide cellular protection, in the same fashion as interventions in other conditions with similar malabsorption, fluid turnover

The association of cognitive impairment with gray matter atrophy and cortical lesion load in clinically isolated syndrome.

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Diker, Sevda; Has, Arzu Ceylan; Kurne, Aslı; Göçmen, Rahşan; Oğuz, Kader Karlı; Karabudak, Rana

2016-11-01

Multiple sclerosis can impair cognition from the early stages and has been shown to be associated with gray matter damage in addition to white matter pathology. To investigate the profile of cognitive impairment in clinically isolated syndrome (CIS), and the contribution of cortical inflammation, cortical and deep gray matter atrophy, and white matter lesions to cognitive decline. Thirty patients with clinically isolated syndrome and twenty demographically- matched healthy controls underwent neuropsychologic assessment through the Rao Brief Repeatable Battery, and brain magnetic resonance imaging with double inversion recovery using a 3T scanner. Patients with clinically isolated syndrome performed significantly worse than healthy controls on tests that evaluated verbal memory, visuospatial learning and memory, and verbal fluency. Significant deep gray matter atrophy was found in the patients but cortical volume was not lower than the controls. Visual memory tests correlated with the volume of the hippocampus, cerebral white matter and deep gray matter structures and with cerebellar cortical atrophy. Cortical or white matter lesion load did not affect cognitive test results. In our patients with CIS, it was shown that cognitive impairment was mainly related to cerebral white matter, cerebellar cortical and deep gray matter atrophy, but not with cortical inflammation, at least in the early stage of disease. Copyright © 2016 Elsevier B.V. All rights reserved.

Visual impairment secondary to congenital glaucoma in children: visual responses, optical correction and use of low vision AIDS

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Maria Aparecida Onuki Haddad

2009-01-01

Full Text Available INTRODUCTION: Congenital glaucoma is frequently associated with visual impairment due to optic nerve damage, corneal opacities, cataracts and amblyopia. Poor vision in childhood is related to global developmental problems, and referral to vision habilitation/rehabilitation services should be without delay to promote efficient management of the impaired vision. OBJECTIVE: To analyze data concerning visual response, the use of optical correction and prescribed low vision aids in a population of children with congenital glaucoma. METHOD: The authors analyzed data from 100 children with congenital glaucoma to assess best corrected visual acuity, prescribed optical correction and low vision aids. RESULTS: Fifty-five percent of the sample were male, 43% female. The mean age was 6.3 years. Two percent presented normal visual acuity levels, 29% mild visual impairment, 28% moderate visual impairment, 15% severe visual impairment, 11% profound visual impairment, and 15% near blindness. Sixty-eight percent received optical correction for refractive errors. Optical low vision aids were adopted for distance vision in 34% of the patients and for near vision in 6%. A manual monocular telescopic system with 2.8 × magnification was the most frequently prescribed low vision aid for distance, and for near vision a +38 diopter illuminated stand magnifier was most frequently prescribed. DISCUSSION AND CONCLUSION: Careful low vision assessment and the appropriate prescription of optical corrections and low vision aids are mandatory in children with congenital glaucoma, since this will assist their global development, improving efficiency in daily life activities and promoting social and educational inclusion.

Tactile spatial working memory activates the dorsal extrastriate cortical pathway in congenitally blind individuals.

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Bonino, D; Ricciardi, E; Sani, L; Gentili, C; Vanello, N; Guazzelli, M; Vecchi, T; Pietrini, P

2008-09-01

In sighted individuals, both the visual and tactile version of the same spatial working memory task elicited neural responses in the dorsal "where" cortical pathway (Ricciardi et al., 2006). Whether the neural response during the tactile working memory task is due to visually-based spatial imagery or rather reflects a more abstract, supramodal organization of the dorsal cortical pathway remains to be determined. To understand the role of visual experience on the functional organization of the dorsal cortical stream, using functional magnetic resonance imaging (fMRI) here we examined brain response in four individuals with congenital or early blindness and no visual recollection, while they performed the same tactile spatial working memory task, a one-back recognition of 2D and 3D matrices. The blind subjects showed a significant activation in bilateral posterior parietal cortex, dorsolateral and inferior prefrontal areas, precuneus, lateral occipital cortex, and cerebellum. Thus, dorsal occipito-parietal areas are involved in mental imagery dealing with spatial components in subjects without prior visual experience and in response to a non-visual task. These data indicate that recruitment of the dorsal cortical pathway in response to the tactile spatial working memory task is not mediated by visually-based imagery and that visual experience is not a prerequisite for the development of a more abstract functional organization of the dorsal stream. These findings, along with previous data indicating a similar supramodal functional organization within the ventral cortical pathway and the motion processing brain regions, may contribute to explain how individuals who are born deprived of sight are able to interact effectively with the surrounding world.

Altered topology of neural circuits in congenital prosopagnosia.

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Rosenthal, Gideon; Tanzer, Michal; Simony, Erez; Hasson, Uri; Behrmann, Marlene; Avidan, Galia

2017-08-21

Using a novel, fMRI-based inter-subject functional correlation (ISFC) approach, which isolates stimulus-locked inter-regional correlation patterns, we compared the cortical topology of the neural circuit for face processing in participants with an impairment in face recognition, congenital prosopagnosia (CP), and matched controls. Whereas the anterior temporal lobe served as the major network hub for face processing in controls, this was not the case for the CPs. Instead, this group evinced hyper-connectivity in posterior regions of the visual cortex, mostly associated with the lateral occipital and the inferior temporal cortices. Moreover, the extent of this hyper-connectivity was correlated with the face recognition deficit. These results offer new insights into the perturbed cortical topology in CP, which may serve as the underlying neural basis of the behavioral deficits typical of this disorder. The approach adopted here has the potential to uncover altered topologies in other neurodevelopmental disorders, as well.

Cortical Spreading Depression Closes Paravascular Space and Impairs Glymphatic Flow: Implications for Migraine Headache.

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Schain, Aaron J; Melo-Carrillo, Agustin; Strassman, Andrew M; Burstein, Rami

2017-03-15

Functioning of the glymphatic system, a network of paravascular tunnels through which cortical interstitial solutes are cleared from the brain, has recently been linked to sleep and traumatic brain injury, both of which can affect the progression of migraine. This led us to investigate the connection between migraine and the glymphatic system. Taking advantage of a novel in vivo method we developed using two-photon microscopy to visualize the paravascular space (PVS) in naive uninjected mice, we show that a single wave of cortical spreading depression (CSD), an animal model of migraine aura, induces a rapid and nearly complete closure of the PVS around surface as well as penetrating cortical arteries and veins lasting several minutes, and gradually recovering over 30 min. A temporal mismatch between the constriction or dilation of the blood vessel lumen and the closure of the PVS suggests that this closure is not likely to result from changes in vessel diameter. We also show that CSD impairs glymphatic flow, as indicated by the reduced rate at which intraparenchymally injected dye was cleared from the cortex to the PVS. This is the first observation of a PVS closure in connection with an abnormal cortical event that underlies a neurological disorder. More specifically, the findings demonstrate a link between the glymphatic system and migraine, and suggest a novel mechanism for regulation of glymphatic flow. SIGNIFICANCE STATEMENT Impairment of brain solute clearance through the recently described glymphatic system has been linked with traumatic brain injury, prolonged wakefulness, and aging. This paper shows that cortical spreading depression, the neural correlate of migraine aura, closes the paravascular space and impairs glymphatic flow. This closure holds the potential to define a novel mechanism for regulation of glymphatic flow. It also implicates the glymphatic system in the altered cortical and endothelial functioning of the migraine brain. Copyright © 2017

The Reliability of the CVI Range: A Functional Vision Assessment for Children with Cortical Visual Impairment

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Newcomb, Sandra

2010-01-01

Children who are identified as visually impaired frequently have a functional vision assessment as one way to determine how their visual impairment affects their educational performance. The CVI Range is a functional vision assessment for children with cortical visual impairment. The purpose of the study presented here was to examine the…

Pitch contour impairment in congenital amusia: New insights from the Self-paced Audio-visual Contour Task (SACT).

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Lu, Xuejing; Sun, Yanan; Ho, Hao Tam; Thompson, William Forde

2017-01-01

Individuals with congenital amusia usually exhibit impairments in melodic contour processing when asked to compare pairs of melodies that may or may not be identical to one another. However, it is unclear whether the impairment observed in contour processing is caused by an impairment of pitch discrimination, or is a consequence of poor pitch memory. To help resolve this ambiguity, we designed a novel Self-paced Audio-visual Contour Task (SACT) that evaluates sensitivity to contour while placing minimal burden on memory. In this task, participants control the pace of an auditory contour that is simultaneously accompanied by a visual contour, and they are asked to judge whether the two contours are congruent or incongruent. In Experiment 1, melodic contours varying in pitch were presented with a series of dots that varied in spatial height. Amusics exhibited reduced sensitivity to audio-visual congruency in comparison to control participants. To exclude the possibility that the impairment arises from a general deficit in cross-modal mapping, Experiment 2 examined sensitivity to cross-modal mapping for two other auditory dimensions: timbral brightness and loudness. Amusics and controls were significantly more sensitive to large than small contour changes, and to changes in loudness than changes in timbre. However, there were no group differences in cross-modal mapping, suggesting that individuals with congenital amusia can comprehend spatial representations of acoustic information. Taken together, the findings indicate that pitch contour processing in congenital amusia remains impaired even when pitch memory is relatively unburdened.

Association between cortical thickness and CSF biomarkers in mild cognitive impairment and Alzheimer’s disease

DEFF Research Database (Denmark)

Mohades, Sara; Dubois, Jonathan; Parent, Maxime

regional cortical thinning (CT) measured by Magnetic Resonance Imaging (MRI) and brain amyloidosis (measured by CSF Ab 1-42 concentrations), or tau hyperphosphorylation (tau 181; p-tau) in Alzheimer’s Disease (AD) and Mild Cognitive Impairment (MCI) patients. We test the hypothesis that the association...... (CN; n¼8) were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort. Cortical surface reconstruction and group registration were generated using Freesurfer. A general linear model was used to conduct regressions between CSF markers and cortical thickness. Results: Correlation...

Cortical Visual Impairment in Children: Presentation Intervention, and Prognosis in Educational Settings

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Swift, Suzanne H.; Davidson, Roseanna C.; Weems, Linda J.

2008-01-01

Children with cortical visual impairment (CVI) exhibit distinct visual behaviors which are often misinterpreted. As the incidence of CVI is on the rise, this has subsequently caused an increased need for identification and intervention with these children from teaching and therapy service providers. Distinguishing children with CVI from children…

Impaired perception of harmonic complexity in congenital amusia: a case study.

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Reed, Catherine L; Cahn, Steven J; Cory, Christopher; Szaflarski, Jerzy P

2011-07-01

This study investigates whether congenital amusia (an inability to perceive music from birth) also impairs the perception of musical qualities that do not rely on fine-grained pitch discrimination. We established that G.G. (64-year-old male, age-typical hearing) met the criteria of congenital amusia and demonstrated music-specific deficits (e.g., language processing, intonation, prosody, fine-grained pitch processing, pitch discrimination, identification of discrepant tones and direction of pitch for tones in a series, pitch discrimination within scale segments, predictability of tone sequences, recognition versus knowing memory for melodies, and short-term memory for melodies). Next, we conducted tests of tonal fusion, harmonic complexity, and affect perception: recognizing timbre, assessing consonance and dissonance, and recognizing musical affect from harmony. G.G. displayed relatively unimpaired perception and production of environmental sounds, prosody, and emotion conveyed by speech compared with impaired fine-grained pitch perception, tonal sequence discrimination, and melody recognition. Importantly, G.G. could not perform tests of tonal fusion that do not rely on pitch discrimination: He could not distinguish concurrent notes, timbre, consonance/dissonance, simultaneous notes, and musical affect. Results indicate at least three distinct problems-one with pitch discrimination, one with harmonic simultaneity, and one with musical affect-and each has distinct consequences for music perception.

Pitch contour impairment in congenital amusia: New insights from the Self-paced Audio-visual Contour Task (SACT.

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Xuejing Lu

Full Text Available Individuals with congenital amusia usually exhibit impairments in melodic contour processing when asked to compare pairs of melodies that may or may not be identical to one another. However, it is unclear whether the impairment observed in contour processing is caused by an impairment of pitch discrimination, or is a consequence of poor pitch memory. To help resolve this ambiguity, we designed a novel Self-paced Audio-visual Contour Task (SACT that evaluates sensitivity to contour while placing minimal burden on memory. In this task, participants control the pace of an auditory contour that is simultaneously accompanied by a visual contour, and they are asked to judge whether the two contours are congruent or incongruent. In Experiment 1, melodic contours varying in pitch were presented with a series of dots that varied in spatial height. Amusics exhibited reduced sensitivity to audio-visual congruency in comparison to control participants. To exclude the possibility that the impairment arises from a general deficit in cross-modal mapping, Experiment 2 examined sensitivity to cross-modal mapping for two other auditory dimensions: timbral brightness and loudness. Amusics and controls were significantly more sensitive to large than small contour changes, and to changes in loudness than changes in timbre. However, there were no group differences in cross-modal mapping, suggesting that individuals with congenital amusia can comprehend spatial representations of acoustic information. Taken together, the findings indicate that pitch contour processing in congenital amusia remains impaired even when pitch memory is relatively unburdened.

Visual Attention to Movement and Color in Children with Cortical Visual Impairment

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Cohen-Maitre, Stacey Ann; Haerich, Paul

2005-01-01

This study investigated the ability of color and motion to elicit and maintain visual attention in a sample of children with cortical visual impairment (CVI). It found that colorful and moving objects may be used to engage children with CVI, increase their motivation to use their residual vision, and promote visual learning.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

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Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

Prenatal exposure to arsenic impairs behavioral flexibility and cortical structure in mice

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Kyaw Htet eAung

2016-03-01

Full Text Available Exposure to arsenic from well water in developing countries is suspected to cause developmental neurotoxicity. Although it has been demonstrated that exposure to sodium arsenite (NaAsO2 suppresses neurite outgrowth of cortical neurons in vitro, it is largely unknown how developmental exposure to NaAsO2 impairs higher brain function and affects cortical histology. Here, we investigated the effect of prenatal NaAsO2 exposure on the behavior of mice in adulthood, and evaluated histological changes in the prelimbic cortex (PrL, which is a part of the medial prefrontal cortex that is critically involved in cognition. Drinking water with or without NaAsO2 (85 ppm was provided to pregnant C3H mice from gestational days 8 to 18, and offspring of both sexes were subjected to cognitive behavioral analyses at 60 weeks of age. The brains of female offspring were subsequently harvested and used for morphometrical analyses. We found that both male and female mice prenatally exposed to NaAsO2 displayed an impaired adaptation to repetitive reversal tasks. In morphometrical analyses of Nissl- or Golgi-stained tissue sections, we found that NaAsO2 exposure was associated with a significant increase in the number of pyramidal neurons in layers V and VI of the PrL, but not other layers of the PrL. More strikingly, prenatal NaAsO2 exposure was associated with a significant decrease in neurite length but not dendrite spine density in all layers of the PrL. Taken together, our results indicate that prenatal exposure to NaAsO2 leads to behavioral inflexibility in adulthood and cortical disarrangement in the PrL might contribute to this behavioral impairment.

Conversion Discriminative Analysis on Mild Cognitive Impairment Using Multiple Cortical Features from MR Images

NARCIS (Netherlands)

Guo, Shengwen; Lai, Chunren; Wu, Congling; Cen, Guiyin; Hariharan, A.; Vijayakumari, Anupa A.; Aarabi, Mohammad Hadi; Aballi, John; Nour, Abd Elazeim Abd Alla Mohamed; Abdelaziz, Mohammed; Abdolalizadeh, AmirHussein; Abdollahi, Mahsa; Abdul Aziz, Siti Aishah; Salam, Amritha Abdul; Abdulaziz, Nidhal; Abdulkadir, Ahmed; Abdullah, Sachal; Abdullah, Osama; Abrigo, Jill; Adachi, Noriaki; Adamson, Christopher; Adduru, Viraj; Adel, Tameem; Aderghal, Karim; Ades-Aron, Benjamin; Adeyosoye, Michael; Adlard, Paul; Srinivasa, Ag; Aganj, Iman; Agarwal, Ayush; Agarwal, Anupam; Agarwal, Anchit; Aguero, Cinthya; Aguiar, Pablo; Ahdidan, Jamila; Ahmad, Fayyaz; Ahmad, Rziwan; Ahmadi, Hessam; Ahmed, Nisar; Sid, Farid Ahmed; Ai, Edward; Ai, Qing; Aicha, Benyahia; Aitharaju, Sai; Aiyer, Aditya; Akkus, Zeynettin; Akodad, Sanae; Akramifard, Hamid; Aksman, Leon; Aktas, Said; Al-Janabi, Omar; Al-Nuaimi, Ali; AlAila, BahaaEddin; Alakwaa, Fadhl; Alam, Saruar; Alam, Fakhre; Alam Zaidi, Syed Farhan; Alan, Wiener; Alansari, Mukhtar; Alareqi, Ebrahim; Alberdi, Ane; Albsoul, Mohammad; Alderson, Thomas; Aleem, Hassan; Alex, Aishwarya; Alexander, Jacob; Alexopoulos, Panagiotis; Alfoldi, Jessica; Ali, Ayesha; Ali, Imdad; Alimoradian, Shirin; Aljabar, Paul; Aljabbouli, Hasan; Aljovic, Almir; Allen, Genevera; Alliende, Luz Maria; Almaguel, Frankis; Almgren, Hannes; Montes, Carmen Alonso; Alowaisheq, Tasneem; Alryalat, Saif Aldeen; Alsado, Majd; Alsaedi, Abdalrahman; Alshehri, Haifa; Altaf, Tooba; Altendahl, Marie; Altmann, Andre; Alvand, Ashkan; Filho, Manoel Alves; Alzubi, Raid; Amaral, Robert; Ambatipudi, Mythri; Amernath, Remya; Amlien, Inge; Amoroso, Nicola; Amri, Hakima; Anastasiou, Athanasios; Anbarasi, Jani; Anbarjafari, Gholamreza; Anderson, Wes; Anderson, Jeff; Anderson, Valerie; Anderson, Loretta; Andonov, Jovan; Andova, Vesna; Andreopoulou, Irene; Andrews, K. Abigail; Andrews, Cameron; Angeles, Michel; Anne-Laure, Aziz; Ansari, Ghulam Jillani; Ansari, Sharaf; Anstey, Kaarin; Antunes, Augusto; Aoshuang, Zhang; Aouf, Mazin; Aow Yong, Li Yew; Aporntewan, Chatchawit; Apostolova, Liana; Appiah, Frank; Apsvalka, Dace; Arab, Abazar; Araque Caballero, Miguel Ángel; Arbabyazd, Mohammad; Arbelaez, Pablo; Archer, Kellie; Ardekani, Babak; Aretouli, Eleni; Arfanakis, Konstantinos; Arisi, Ivan; Armentrout, Steven; Arnold, Matthias; Arnold, Steven; Arslan, Salim; Artacho-Perula, Emilio; Arthofer, Christoph; Aruchamy, Srinivasan; Arya, Zobair; Pizarro, Carlos Asensio; Ashford, Wes; Ashraf, Azhaar; Askland, Kathleen; Aslaksen, Per; Aslakson, Eric; Aso, Toshihiko; Astphan, Michele; Ataloglou, Dimitrios; Atay, Meltem; Athanas, Argus; Atri, Roozbeh; Au, April; Aurich, Maike; Avants, Brian; Awasthi, Niharika; Awate, Suyash; Ayaz, Aymen; Son, Yesim Aydin; Aydogan, Dogu Baran; Ayhan, Murat; Ayton, Scott; Aziz, Adel; Azmi, Mohd Hafrizal; Ba, Maowen; Bach, Kevin; Badea, Alexandra; Bag, Asim; Bagewadi, Shweta; Bai, Xiangqi; Bai, Zilong; Bai, Haoli; Baird, Geoffrey; Baiwen, Zhang; Baker, Elizabeth; Baker, John; Bakker, Arnold; Ball, Erika; Ballén Galindo, Miguel Ángel; Banaei, Amin; Bandyopadhyay, Dipankar; Bang, Ki Hun; Bangen, Katherine; Banks, Sarah; Banning, Leonie; Bao, Wan Yun; Barakat, Rita; Barbará, Eduardo; Barber, Philip; Barber, Robert; de Araujo, Flavia Roberta Barbosa; Barnes, Josephine; Barredo, Jennifer; Barret, Olivier; Barrett, Matthew; Barsamian, Barsam; Barsky, Andrey; Bartel, Fabian; Bartoszewicz, Jakub; Bartram-Shaw, David; Barwood, Caroline; Basavaraj, Suryakanth; Basavaraj, Arshitha; Basiouny, Ahmed; Baskaran, Bhuvaneshwari; Basu, Arindam; Baths, Veeky; Bathula, Deepti; Batmanghelich, Nematollah Kayhan; Bauer, Roman; Bauer, Corinna; Bawa, Vanshika; Bayley, Peter; Bayram, Ali; Bazi, Yakoub; Beach, Thomas; Beaudoin, Kristin; Beaulieu, Christian; Becker, Cassiano; Beckett, Laurel; Bedding, Alun; Beer, Simone; Beer, Joanne; Beg, Mirza Faisal; Behfar, Qumars; Behjat, Hamed; Behjat, Hamid; Behseta, Sam; Bekris, Lynn; Suresh, Mahanand Belathur; Belichenko, Nadia; Bellio, Maura; Belyaev, Mikhail; Bemiller, Shane; Ahmed, Olfa Ben; Ben Bouallègue, Fayçal; Benedikt, Michael; Benge, Jared; Benitez, Andreana; Benlloch, Jose María; Benn, Marianne; Benyoussef, El Mehdi; Bergeron, David; Bermudez, Elaine; Bessadok, Alaa; Betzel, Richard; Bezuidenhoudt, Mauritz; Bhagwat, Nikhil; Bhalerao, Shailesh; Bhandari, Anindya; Bhasin, Harsh; Bhati, Radhika; Bhatkoti, Pushkar; Bhatt, Priya; Bhattacharjee, Debotosh; Bhattacharyya, Sudeepa; Bi, Rui; Bi, Jinbo; Bi, Harvy; Biancardi, Alberto; Bidart, Rene; Bilgel, Murat; Billiet, Thibo; Binczyk, Franciszek; Bingsheng, Huang; Bird, Christopher; Bischof, Gérard; Bishnoi, Ram; Biswas, Shameek; Bjelke, David; Black, Sandra; Blackwood, Jennifer; Blaese, Elise; Blair, James; Blanchard, Gilles; Bloom, Toby; Blujus, Jenna; Blusztajn, Jan Krzysztof; Bo, Wu; Bo, Jun; Boda, Ravi; Boellaard, Ronald; Bogorodzki, Piotr; Bokde, Arun; Bolhasani, Ehsan; Bonakdarpour, Borna; Bonazzoli, Matthew; Bône, Alexandre; Borkowsky, Jennifer; Borrajo, Danielle; Bos, Isabelle; Bosco, Paolo; Bott, Nicholas; Rodrigues, Renato Botter Maio Lopes; Boughanmi, Amani; Bougias, Haralabos; Boulier, Thomas; Bourgeat, Pierrick; Bouyagoub, Samira; Bowes, Mike; Boyes, Richard; Bozoki, Andrea; Bradshaw, Tyler; Pereira, Joana Braga; Brahami, Yoann; Brambati, Simona Maria; Bras, Jose; Braskie, Meredith; Brecheisen, Ralph; Bregman, Noa; Brewer, James; Briassouli, Alexia; Brickman, Adam; Bridges, Robert; Brihmat, Nabila; Brinkmann, Benjamin; Britschgi, Markus; Broers, Thomas; Bron, Esther; Brown, Jesse; Brown, Matthew; Brown, Abel; Brown, Maria; Brunberg, James; Bu, Tao; Bubbico, Giovanna; Bubenik, Peter; Bubu, Omonigho; Buchanan, Daniel; Buchholz, Hans-Georg; Buchsbaum, Bradley; Buck, Katharina; Buckley, Rachel; Budgeon, Charley; Buhl, Derek; Sánchez, Manuel Buitrago; Bundela, Saurabh; Burciu, Irina; Burgos, Ninon; Burke, Shanna; Burn, Katherine; Burns, Jeffrey; Burns, Gully; Burzykowski, Tomasz; Bush, Sammie; Buss, Stephanie; Butcher, Bradley; Butt, Victoria; Buxbaum, Joseph; Sandeep, C. 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K.; Glass, Jesse; Glazier, Brad; Gleason, Carey; Glerean, Enrico; Glozman, Tanya; Godbey, Michael; Goettlich, Martin; Gogoi, Minakshi; Gola, Kelly; Golbabaei, Soroosh; Golden, Daniel; Goldstein, Felicia; Gomes, Carlos; de Olivera, Ramon Gomes Durães; Gomez, Isabel; Gomez Gonzalez, Juan Pablo; Gomez-Verdejo, Vanessa; Gong, Weikang; Gong, Enhao; Gong, Kuang; Gonneaud, Julie; Gonzalez, Clio; Gonzalez, Evelio; Gonzalez, Gerardo; Moreira, Eduardo Gonzalez; Goodman, James; Gopinath, Srinath; Gopu, Anusharani; Gordon, Brian; Gordon, David; Gordon, Mark; Gorriz, Juan Manuel; Gors, Dorothy; Göttler, Jens; Gounari, Xanthippi; Goyal, Devendra; Graf, John; Graff, Ariel; Graham, Leah; Graham, Jinko; Grajski, Kamil; Grami, Maziyar; Grand'Maison, Marilyn; Grant, Kiran; Grassi, Elena; Gray, Katherine; Grecchi, Elisabetta; Green, Robert; Green, Elaine; Greenberg, Jonathan; Greening, Steven; Greenwood, Bryson; Gregori, Johannes; Gregory, Michael; Greicius, Michael; Greve, Douglas; Griffin, Jason; Grill, Joshua; Grodner, Kelsey; Grolmusz, Vince; Groot, Perry; Groothuis, Irme; Gross, Alden; Grundstad, Arne; Grundy, Edward; Grzegorczyk, Tomasz; Nandith, G. S.; Gu, David; Gu, Jiena; Gu, Yun; Gu, Ginam; Guan, Sheng; Guan, Yuanfang; Guennel, Tobias; Guerin, Laurent; Guerrero, Ricardo; Guerrier, Laura; Guevara, Pamela; Guggari, Shankru; Roy, Abhijit Guha; Guidotti, Roberto; Guillon, Jérémy; Gulcher, Jeff; Gulia, Sarita; Gumedze, Freedom; Gunawardena, Nishan; Gunn, Roger; Guo, Michael; Guo, Xiao; Guo, Xingzhi; Guo, Yi; Kai, Zhang Guo; Zhao, Ma Guo; Gupta, Navin; Gupta, Anubha; Gupta, Ishaan; Guren, Onan; Gurnani, Ashita; Gurol, Mahmut Edip; Guzman, Gloria; Gyy, Gyy; Rajanna, Vanamala H.; Ha, Seongwook; Haacke, Ewart; Haaksma, Miriam; Habadi, Maryam; Habeck, Christian; Habes, Mohamad; Hackspiel Zarate, Maria Mercedes; Hadimani, Ravi; Hahn, William; Hahn, Tim; Haight, Thaddeus; Hair, Nicole; Haixing, Wang; Hajarolasvadi, Noushin; Hajjar, Ihab; Hajjo, Rima; Halchenko, Yaroslav; Hall, Anette; Hallock, Kevin; Hamdi, Shah Muhammad; Hameed, Farhan; Hamidian, Hajar; Han, Dong; Han, Yang; Han, Hio-Been; Han, Qingchang; Han, Beomsoo; Han, Duke; Han, Shizhong; Han, Xiaoxia; Han, Peipei; Han, Joo Yoon; Han, Dong-Sig; Handsaker, Robert; Hanna-Pladdy, Brenda; Hanseeuw, Bernard; Hansson, Björn; Hao, Yang; Hao, Jhon; Happ, Clara; Harischandra, Dilshan; Haritaoglu, Esin; Harris, Richard; Harris, Breanna; Hart, Brian; Hartzell, James; Harvey, Danielle; Hashimoto, Tsuyoshi; Hasooni, Hossein; Hassan, Moaied; Hassan, Mehdi; Hassanzadeh, Hamid Reza; Hassanzadeh, Oktie; Hatton, Sean; Hawchar, Jinan; Hayashi, Toshihiro; Hayashi, Norio; Hayes, Jasmeet; Hayete, Boris; Haynor, David; He, Linchen; He, Yan; He, Yao; He, Huiguang; Heegaard, Niels; Hefny, Mohamed; Heil, Julius; Heindel, William; Henderson, Samuel; Henf, Judith; Henriquez, Claudio; Herholz, Karl; Hermessi, Haithem; Hernandez, Monica; Herrera, Luis; Hibar, Derrek; Hidane, Moncef; Higuchi, Satomi; Hind, Jade; Hives, Florent; Hoang, Mimi; Hobel, Zachary; Hoffman, John; Hofmeister, Jeremy; Hohman, Timothy; Holder, Daniel; Holguin, Jess; Holmes, Robin; Hong, John; Hongliang, Zou; Hongyu, Guo; Hopkins, Paul; Hor, Soheil; Hornbeck, Russ; Horng, Andy; Horton, Wesley; Hosny, Khalid; Hosseini, Eghbal; Hosseini, Hadi; Hosseini, Zahra; Asl, Ehsan Hosseini; Hou, Beibei; Houghton, Richard; Houghton, Katherine; Householder, Erin; Howlett, James; Hsiao, John; Hsiao, Ing-Tsung; Hsu, Chih-Chin; Hu, Xixi; Hu, Lingjing; Hu, Nan; Hu, Kun; Hu, Tao; Hu, Li; Hu, Xiaolan; Hua, Fei; Huang, Marissa; Huang, Qi; Huang, Michelle; Huang, Chao; Huang, JunMing; Huang, Xingyuan; Huang, Yuhan; Huang, Sing-Hang; Huang, Shuai; Huang, Peiyu; Huang, Chun-Chao; Huang, Zhiyue; Huang, Meiyan; Huang, Zhiwen; Hubrich, Markus; Huestis, Michael; Huey, Edward; Hufton, Andrew; Huijbers, Willem; Huisman, Sjoerd; Hung, Joe; Hunsaker, Naomi; Hunt, Fostor; Huppertz, Hans-Jürgen; Huser, Vojtech; Hussain, Lal; Hutchison, R. Matthew; Hutton, Alexandre; Huyck, Els; Hwang, Jihye; Hyun, JungMoon; Iakovakis, Dimitris; Ibañez, Victoria; Ide, Kayoko; Igarashi, Takuma; Iglesias, Juan Eugenio; Muñoz, Laura Igual; Iidaka, Tetsuya; Ikeuchi, Takeshi; Ikhena, John; Ikuta, Toshikazu; Im, Hyung-Jun; Insausti, Ana; Insel, Philip; Invernizzi, Azzurra; Iosif, Ana-Maria; Ip, Nancy; Irizarry, Sierra; Irmak, Emrah; Irwin, David; Isaza, Mariano; Ishii, Makoto; Ishii, Kenji; Islam, Jyoti; Israel, Ariel; Isufi, Elvin; Ito, Kaori; Ito, Masato; Izquierdo, Walter; Alphin, J.; Akhila, J. A.; Jaberzadeh, Amir; Jackowiak, Edward; Jackson, Eric; Jackson, Chris; Jackson, Jonathan; Jacob, Samson; Jacobsen, Nina; Jacobsen, Jörn; Jacquemont, Thomas; Jacques, Nerline; Jaeger, Ralf; Jafari, Tahere; Jafari-Khouzani, Kourosh; Jagadish, Akshay Kumar; Jagtap, Priti; Jagust, William; Jahr, Joseph; Jain, Shubhankar; Jain, Shubham; Jaiswal, Ayush; Jaiswal, Akshay; Jait, Amine; Jakkoju, Chetan; Jakobsson, Andreas; James, Olga; James, Oliver; Jamlai, Maedeh; Jammeh, Emmanuel; Janardhana, Lajavanthi; Jang, Jinseong; Jang, Jae-Won; Jang, Jinhee; Jang, Hyesue; Janghel, Rekh Ram; Jawahar, Shasvat; Jean, Kharne; Jean-Baptiste, Schiratti; Jedynak, Bruno; Jefferson, Angela; Jennings, Danna; Jennings, Dominique; Jeon, Seun; Jeong, Yong; Jester, Charles; Jethwa, Ketan; Jha, Debesh; Ji, Gong-Jun; Ji, Chong; Ji, Jin; Jia, Bowen; Jiacheng, Lee; Jiajia, Guo; Jian, Weijian; Jiang, Shan; Jiang, Chunxiang; Jianhua, Gao; Jiao, Zhuqing; Jiao, Zeyu; Jiao, Du; Jimenez Alaniz, Juan Ramon; Gomez, Carolina Jimenez; Jiménez-Huete, Adolfo; Jimura, Koji; Jin, Yan; Jin, Zhu; Jogia, Jigar; Johansson, Per; John, Kimberley; Johnsen, Stian; Johnson, Leonard; Johnson, Sterling; Johnson, Kent; Johnston, Jane; Johnston, Stephen; Jomeiri, Alireza; Jonas, Katherine; Jones, Richard; Jones-Davis, Dorothy; Jönsson, Linus; Joseph, Jane; Joshi, Himanshu; Joshi, Shantanu; Joshi, Abhinay; Joyce, Katherine; Juengling, Freimut; Jung, Youngjin; Junker, Viv; Junwei, Ding; Jyothi, Singaraju; Jyotiyana, Monika; Sarthaj, K.; Kachouane, Mouloud; Kadian, Amit; Kaewaramsri, Yothin; Kaicheng, Li; Kaiser, Marcus; Kakinami, Lisa; Kalra, Sanjay; Kam, Hye Jin; Kamarudin, Nur Shazwani; Kaminker, Josh; Kandel, Benjamin; Kandiah, Nagaendran; Kaneko, Tomoki; Kang, Yun Seok; Kang, Ju Hee; Kang, Hakmook; Kang, Jian; Kansal, Anuraag; Kaouache, Mohammed; Kaplan, Adam; Kottaram, Akhil Karazhma; Karim, Faizan; Karimi-Mostowfi, Nicki; Karjoo, Mahboobe; Karlin, Daniel; Karp, Juliana; Karray, Chiheb; Kartsonis, Nick; Karu, Naama; Kasa, Jaya; Kasiri, Keyvan; Katako, Audrey; Kato, Ryo; Katsonis, Panagiotis; Katti, Hkkatti; Kaur, Prabhjot; Kauwe, John; Kawaguchi, Atsushi; Kazemi, Samaneh; Kazemi, Yosra; Rijan, K. C.; Kechin, Andrey; Kelkhoff, Douglas; Kelleher, Thomas; Kellner-Weldon, Frauke; Kennion, Oliver; Kerr, Daniel; Kesler, Shelli; Kesselman, Carl; Kessler, Daniel; Keuken, Max; Keyvanfard, Farzaneh; Khademi, April; Khajehnejad, Moein; Khan, Wasim; Khan, Tabrej; Khan, Hikmat; Khan, Anzalee; Khan, Samreen; Khanmohammadi, Sina; Khasanova, Tatiana; Khazaee, Ali; Khazan, Lenny; Kherif, Ferath; Khl, Aym; KHlif, Mohamed Salah; Khondoker, Mizanur; Khoo, Sok Kean; Khosrowabadi, Reza; Khurshid, Kiran; Kianfard, Reihaneh; Kida, Satoshi; Kiddle, Steven; Kikuchi, Masashi; Killiany, Ron; Kim, Jeongchul; Kim, Jong Hun; Kim, Hyunwoo; Kim, Jongin; Kim, Yeo Jin; Kim, Jung-Jae; Kim, Hang-Rai; Kim, Jaeyeol; Kim, Ki Hwan; Kim, Joseph; Kim, Younghoon; Kim, Mijung; Kim, Jeongsik; Kim, Bohyun; Kim, Taehyun; Kim, Heeyoung; Kim, Seonjik; Kim, Nakyoung; Kim, Byeongnam; Kim, ChanMi; Kim, Jeonghun; Kim, Seong Yoon; Kim, Sunhee; Kingery, Lisle; Kinnunen, Kirsi; Kinomes, Marie; Kirchner, Jan Hendrik; Caldwell, Jessica Kirkland; Kirwan, Brock; Kitamura, Chiemi; Kitty, Kitty; Kiviat, David; Kiyasova, Vera; Klein, Richard; Klein, Alison; Klein, Gregory; Klein, Jan; Kleinman, Aaron; Kling, Mitchel; Klinger, Joern; Klinger, Rebecca; Klink, Katharina; Kocaturk, Mustafa; Koch, Philipp Johannes; Kochova, Elena; Koenig, Loren; Koh, Natalie; Köhler, Jens Erik; Koikkalainen, Juha; Koini, Marisa; Kolachalama, Vijaya; Koncz, Rebecca; Kong, Xiang-Zhen; Kong, Vincent; Kong, Xiangzhen; Kong, Dehan; Kong, Linglong; Konukoglu, Ender; Kopeinigg, Daniel; Kopera, Krzysztof; Koppers, Simon; Korb, Matheus; Korfiatis, Panagiotis; Korolev, Igor; Korolev, Sergey; Korostyshevskiy, Valeriy; Koshiya, Heena; Kost, James; Kotari, Vikas; Koutra, Danai; Koychev, Ivan; Kruthika, K. R.; Krahnke, Tillmann; Krause, Matthew; Kraybill, Matt; Kriebel, Martin; Hari Krishna, M.; Krohn, Stephan; Kruggel, Frithjof; Kuceyeski, Amy; Kuhl, Donald; Kulshreshtha, Devang; Kumar, Santosh; Kumar, Sambath; Kumar, Kuldeep; Kumar, Anil; Kumar, Abhishek; Kumar, A.; Kumar, Saurabh; Kumar, Ashwani; Kumar, Ambar; Kumar, Dinesh; Kumar, Rishab; Kumarasinghe, Janaka; Kundu, Suprateek; Kung, Te-Han; Kuo, Li-Wei; Kuo, Phillip; Channappa, Usha Kuppe; Kuriakose, Elmy; Kurian, P.; Kwan, Kenneth; Kwasigroch, Arkadiusz; Kwon, Young Hye; Kyeong, Sunghyon; Fleur, Claire La; Wungo, Supriyadi La; Labbe, Tomas; Lacombe, Daniel; Lad, Meher; Lahoti, Geet; Lai, Ying Liang; Lai, Catherine; Lai, Dongbing; Laird, Dillon; Lakatos, Anita; Lam, Alice; Lama, Ramesh; Lambert, Christian; Landau, Susan; Landman, Bennett; Landre, Victor; Lane, Elizabeth; Lange, Catharina; Langenieux, Alexandre; Lareau, Caleb; Larson, Katelyn; Latif, Ghazanfar; Lauber, Ross; Lawliet, Z. H.; Lawrence, Emma; Lazar, Anca; Le, Ngan; Le, Thi Khuyen; Le, Matthieu; Guen, Yann Le; Scouiller, Stephanie Le; Leandrou, Stephanos; Leatherday, Christopher; Leavitt, Mackenzie; Ledbetter, Christina; Lee, Hyekyoung; Lee, Wook; Lee, Annie; Lee, Jaehong; Lee, Dongyoung; Lee, Joel; Lee, Song-Ting; Lee, Kuo-Jung; Lee, Subin; Lee, Jaeho; Lee, Catherine; Lee, Gyungtae; Lee, Suzee; Lee, Erik; Lee, Yunseong; Lee, Sang-Gil; Lee, Seonjoo; Lee, Peng Jung; Lee, Hyunna; Lee, Cheng-Hsien; Lee, Hengtong; Lee, Mi Ri; Lee, Ilgu; Lee, Qixiang; Lefterov, Iliya; Leger, Charlie; Lehallier, Benoit; Lei, B.; Lei, Shi; Lei, Hongxing; Lei, Haoyun; Leong, Tze Yun; Leong, Sharlene; Leoutsakos, Jeannie-Marie; Lepore, Natasha; Lerch, Ondrej; Leung, Yip Sang; Leung, Yuk Yee; Leung, Shuyu; Leung, Hoi-Chung; Leung, Ming-Ying; Levakov, Gidon; Levine, Abraham; Li, Chawn; Li, Miranda; Li, Huijie; Li, Junning; Li, Xiaofeng; Li, Yi; Li, Jinchao; Li, Tianhong; Li, Yongming; Li, Xiangrui; Li, Tieqiang; Li, Yan; Li, Fuhai; Li, Feijiang; Li, Shuyang; Li, Zhi; Li, Xing; Li, Rongjian; Li, Rui; Li, Y. U.; Li, Kang; Li, Zhenzhen; Li, Qingqin; Li, Wenjun; Li, Yang; Li, Jialu; Li, Guangyu; Li, Michelle; Li, Yibai; Li, Yupeng; Li, Tao; Li, Zhujun; Li, Yafen; Li, Muwei; Li, Xuan; Li, Yi-Ju; Li, Cen Sing; Li, X. W.; Li, Yingjie; Li, Lin; Li, Yihan Jessie; Li, Yaqing; Li, Xiantao; Li, Xingfeng; Li, Chenxi; Li, Chao; Li, Jicong; Li, Jiewei; Li, Tengfei; Li, Wei; Li, Xinzhong; Li, Nannan; Li, Chunfei; Li, Yeshu; Liang, Chen; Liang, Nanying; Liang, Jingjing; Liang, Shengxiang; Liang, Xiaoyun; Liang, Xia; Liang, Ying; Liberman, Sofia; Libon, David; Liébana, Sergio; Liedes, Hilkka; Lim, Wee Keong; Lim, Yen Ying; Lin, Yenching; Lin, Katherine; Lin, Ming; Lin, Ai-Ling; Lin, Ching-Heng; Lin, Bing; Lin, Lin; Lin, Jyh-Miin; Lin, W. M.; Lin, Chien-Tong; Lin, Liyan; Lin, Jing; Lindberg, Olof; Linesch, Paul; Linn, Kristin; Lippert, Christoph; Litovka, Nikita; Little, Graham; Liu, Man-Yun; Liu, Jin; Liu, Chin-Fu; Liu, Zhaowen; Liu, Eulanca; Liu, Weixiang; Liu, K. E.; Liu, Hao Chen; Liu, Jia; Liu, Richann; Liu, Dongbo; Liu, Victor; Liu, Wenjie; Liu, Tao; Liu, Xiaoli; Liu, Yong; Liu, Lin; Liu, Dan; Liu, Xiuwen; Liu, Mengmeng; Liu, Chia-Shang; Liu, Ying; Liu, Yan; Liu, Xueqing; Liu, Han; Liu, Chien-Liang; Liu, Sidong; Liu, Jundong; Liu, Yang; Liu, Tianming; Liu, Tingshan; Liu, Ning; Liu, Lan; Liuyu, Liuyu; Lizarraga, Gabriel; Llido, Jerome; Lobach, Iryna; Lockhart, Samuel; Loft, Henrik; Lohr, Kelly; Lon, Hoi Kei; Lone, Kashif Javed; Long, Ziyi; Long, Xiaojing; Longo, Frank; Alves, Isadora Lopes; Lopez, Guadalupe; Lorenzi, Marco; Lotan, Eyal; Louie, Gregory; Louis, Maxime; Loukas, Andreas; Love, Seth; Lowe, Deborah; Lu, Bin; Lu, Chia-Feng; Lu, Zixiang; Lu, Lijun; Lu, Pascal; Lu, Shen; Lu, Qing; Lu, Zheshen; Lu, Chuan; Lu, Patty; Lu, Hangquan; Lu, Bo; Luktuke, Yadnyesh; Luo, Wei; Luo, Suhuai; Luo, Sheng; Luo, Shaojun; Luo, Peggy; Luo, Shan; Luo, Weidong; Luo, Liao; Luo, Xiao; Lupton, Michelle; Lutz, Michael; Lv, Eric; Lyu, Juan; Angshul, M.; Radha, M. R.; Dinesh, M. S.; Ma, Xiangyu; Ma, Chao; Ma, Li; Ma, Yu; Ma, Qianli; MacArthur, Daniel; Macey, Paul; Mach, Eric; MacPhee, Imola; Madadi, Mahboubeh; Madan, Christopher; Madan, Bharat; Madero, Giovanny; Madhavan, Radhika; Madhyastha, Tara; Maeno, Nobuhisa; Magsood, Hamzah; Mah, Linda; Mahdavi, Shirin; Mahdavi, Asef; Mahmoud, Abeer; Mahmoud, Hentati; Mahmoud, Kariman; Mahmoudi, Ahmad; Dehkordi, Siamak Mahmoudian; Mahor, Monika; Mahseredjian, Taleen; Mai, Cha; Maia, Rui; Maiti, Taps; Maj, Carlo; Maji, Pradipta; Majidpour, Jafar; Makhlouf, Laouchedi; Makino, Satoshi; Makrievski, Stefan; Makse, Hernan; Malagi, Archana; Malakhova, Katerina; Malamon, John; Malashenkova, Irina; Malchano, Zach; Maleki-Balajoo, Somayeh; Malik, Sadia; Malik, Tamoor; Mallik, Abhirup; Malm, Tarja; Malpas, Charles; Malpica, Norberto; Malviya, Meenakshi; Mamandi, A.; Manandhar, Abinash; Mandal, Pravat; Mandali, Alekhya; Mane, Prajakta; Manning, Emily; Manoufali, Mohamed; Manser, Paul; Mantini, Dante; Mantri, Ninad; Manyakov, Nikolay; Manzak, Dİlek; Mao, Shuai; Maoyu, Tian; Maple Grødem, Jodi; Maravilla, Kenneth; Marco, Simonetti; Marcus, Daniel; Margetis, John; Margolin, Richard; Mariano, Laura; Marinescu, Razvan Valentin; Markett, Sebastian; Markiewicz, Pawel; Marnane, Michael; Maroof, Asif; Marple, Laura; Marques, Cristiane; Marrakchi, Linda; Marshall, Gad; Märtens, Kaspar; Mårtensson, Gustav; Marti, Cristian; Martin, Harold; Martinaud, Olivier; Martinez, Victor; Martinez, Oliver; Martinez, Jesus; Martinez, Carlos; Abadías, Neus Martinez; Torteya, Antonio Martinez; Martini, Jean-Baptiste; Martins, Samuel; Masciotra, Viviane; Masmoudi, Ahmed; Masny, Aliaksandr; Shah, Pir Masoom; Massaro, Tyler; Masumoto, Jun; Matan, Cristy; Mate, Karen; Mateus, Pedro; Mather, Mara; Mather, Karen; Mathew, Jesia; Mathias, Samuel; Mathiyalagan, Tamilalaghan; Matloff, Will; Matsubara, Keisuke; Matsubara, Takashi; Matsuda, Yukihisa; Matthews, Dawn; Mattis, Paul; May, Patrick; Mayburd, Anatoly; Mayo, Chantel; Mayordomo, Elvira; Mbuyi, Gaylord; McCallum, Colleen; McCann, Bryony; McCollough, Todd; McCormick, Shannon; McCurdy, Sean; McDonald, Carrie; McEligot, Archana; McEvoy, Linda; McGeown, William; McGinnis, Scott; McHugh, Thomas; McIntosh, Elissa; McIntosh, Randy; McKenzie, Andrew; McLaren, Donald; McMillan, Corey; McMillan, Alan; McPherson, Brent; McRae-McKee, Kevin; Zaini, Muhammad Hafiz Md; Meadowcroft, Mark; Mecca, Adam; Meda, Shashwath; Medikonda, Venkata Srinu; Meeker, Karin; Megherbi, Thinhinane; Mehmood, Anum; Mehrtash, Alireza; Meiberth, Dix; Meier, Dominik; Meijerman, Antoine; Mejia, Jose; Mekkayil, Lasitha; Meles, Sanne; Melie-Garcia, Lester; Melo, Hans; Melrose, Rebecca; Melzer, Corina; Mendes, Aline; Leon, Ricardo Antonio Mendoza; Gonzalez, Manuel Menendez; Meng, Dewen; Meng, Xianglai; Meng, Guilin; Mengel, David; Menon, Ramesh; Menon, Ravi; Mercado, Flavio; Messick, Viviana; Meyer, Pierre-Francois; Meyer, Carsten; Mezher, Adam; Mi, Liang; Miao, Hongyu; Michailovich, Oleg; Michels, Lars; Mickael, Guedj; Mikhail, Mark; Mikhno, Arthur; Milana, Diletta; Miller, Rachel; Miller, Brendan; Millikin, Colleen; Min, Byung Wook; Minadakis, George; Minghui, Hu; Chinh, Truong Minh; Minkova, Lora; Miranda, Michelle; Misevic, Dusan; Mishra, Amit; Mishra, Chetan; Mishra, Shiwangi; Mishra, Ashutosh; Mishra, Krishna; Misquitta, Karen; Mitchell, Brian; Mithawala, Keyur; Mitnitski, Arnold; Mitra, Sinjini; Mittal, Gaurav; Mittner, Matthias; Miyapuram, Krishna Prasad; Mlalazi, Rebaone; Mo, Daojun; Moghekar, Abhay; Moguilner, Sebastian; Moh, Heba; Mohabir, Mark; Mohajer, Bahram; Mohamed, Moataz; Mohammadi, Sadeq; Mohammadi-Nejad, Ali-Reza; Mohammady, Saed; Taqi, Arwa Mohammed; Mohan, Kishore Kumar; Mohy-Ud-Din, Hassan; Moitra, Dipanjan; Mojaradi, Mehdi; Mojtabavi, Alireza; Molina, Helena; Mollon, Jennifer; Molteni, Erika; Montajabi, Mohaddeseh; Montal, Victor; Montazami, Aram; Monté-Rubio, Gemma; Montembeault, Maxime; Montero-Odasso, Manuel; Montillo, Albert; Moon, Byung-Seung; Moon, Chan; Moon, Chooza; Moore, Archer; Morabito, Francesco C.; Moradi, Masoud; Moraes, Renato; Ballesteros, Orlando Morales; Morales-Henriquez, Daniela; Moratal, David; Moreno, Herman; Morihara, Ryuta; Mormino, Elizabeth; Morris, Jeffrey; Mortamet, Bénédicte; Morton, John; Moscato, Pablo; Rial, Alexis Moscoso; Mossa, Abdela Ahmed; Mottaghi, Setare; Mouelhi, Aymen; Moussavi, Arezou; Moustafa, Ahmed; Mowrey, Wenzhu; Mtetwa, Lungile; Muehlboeck, Sebastian; Mueller, Susanne; Mueller-Sarnowski, Felix; Mufidah, Ratna; Mukherjee, Rik; Mukherjee, Shubhabrata; Müller, Christian; Müller, Hans-Peter; Mullins, Paul; Mullins, Roger; Muncy, Nathan; Munir, Akhtar; Munirathinam, Ramesh; Munoz, David; Munro, Catherine; Muranevici, Gabriela; Rendon, Santiago Murillo; Murilo, Robson; Murphy, Sonya; Muscio, Cristina; Musso, Gabriel; Mustafa, Yasser; Myall, Daniel; Gayathri, N.; Nabavi, Shahab; Nabeel, Eman; Nagele, Robert; Naghshbandi, Hane; Naik, Shruti; Najmitabrizi, Neda; Nakawah, Mohammad Obadah; Nalls, Mike; Namboori, Krishnan; Nancy, Annie; Napolitano, Giulio; Narayan, Manjari; Narkhede, Atul; Naseri, Mahsa; Nasrallah, Ilya; Nasrallah, Fatima; Nassif, Rana; Nath, Sruthi R.; Nathoo, Farouk; Nation, Daniel; Naughton, Brian; Nault, Larry; Nautiyal, Deeksha; Nayak, Deepak Ranjan; Naz, Mufassra; Nazemian, Shayan; Nazeri, Arash; Neckoska, Emilija; Neelamegam, Malinee; Nehary, Ebrahim; Nelson, Peter; Nelson, Linda; Nematzadeh, Hosein; Nerur, Shubha; Nesteruk, Thomas; Neu, Scott; Ng, Yen-Bee; Nguyen, Tin; Nguyen, Thanh; Nguyen, Harrison; Nguyen, Nghi; Trung, Hieu Nguyen; Ni, Lucy; Nian, Yongjian; Nichols, Thomas; Nicodemus, Kristin; Nie, Yunlong; Nielsen, Casper; Nikolov, Robert; Nila, Jessica; Nishioka, Christopher; Njeh, Ines; Njie, Emalick; Nobakht, Samaneh; Noble, Andrew; Noda, Art; Noroozi, Ali; Norton, Derek; Nosarti, Chiara; Nosheny, Rachel; Notsu, Akifumi; Novak, Gerald; Nozadi, Seyed Hossein; Nu, Fen; Nudelman, Kelly; Nunes, Adonay; Nunes, Ana; Núñez, Christian; Nuno, Michelle; Nuriel, Tal; Nygaard, Haakon; Nyquist, Paul; O'Bott, Jacob; O'Charoen, Sirimon; O'Neill, William; O'Rawe, Jonathan; Obrzut, Grzegorz; Och, Ganzorig; Odaibo, David; Odry, Benjamin; Oehmichen, Axel; Ofori, Edward; Ogunsanmi, Abdulfatai; Oguz, Kaya; Oh, Jungsu; Oh, Minyoung; Oh, Hwamee; Ohigashi, Hironori; Oishi, Kenichi; Oishi, Naoya; Okhravi, Hamid; Okonkwo, Ozioma; Okyay, Savaş; Oliveira, Cyrill; Oliveira, João; Oliveira, Francisco; Oliver, Ruth; Olmos, Salvador; Olszowy, Wiktor; Oltra-Cucarella, Javier; Önen, Zehra; Ong, Rowena; Onoda, Keiichi; Onyike, Chiadi; Operto, Grégory; Oppedal, Ketil; Orejuela, Juan; Orhon, Atila; Orozco, Max; Ortuño, Juan; Osadebey, Michael; Osborn, Joseph; Osoba, Osonde; Ostadrahimi, Hamid; Ostovari, Parisa; Otis, Sarah; Overgaard, Shauna; Owen, Catrin Elin; Oxtoby, Neil; Öziç, Muhammet Üsame; Ozkaya, Gorkem; Okur, Ozlem Ozmen; Ozsolak, Fatih; Ozyildirim, Melis; Pa, Judy; Pacheco, Joe; Pack, Gary; Padilla, Daniel; Cerezo, Berizohar Padilla; Padovese, Bruno; Pae, Chongwon; Pagano, Gennaro; Pahuja, Gunjan; Pai, Shraddha; Pajavand, Shahryar; Pajula, Juha; Pak, Kyoungjune; Pakzad, Ashkan; Palaniappan, Mathiyalagan; Palanisamy, Sindhu; Palmqvist, Sebastian; Palsson, Frosti; Pan, Dan; Pan, Tiffany; Pan, Yuqing; Pan, Wei; Pan, Sun; Pan, Hongliang; Pan, Xiaoxi; Pandey, Lokesh; Pang, Qiaoyu; Pangilinan, Erin; Pannetier, Nicolas; Panpan, Xu; Panyavaraporn, Jantana; Pardini, Matteo; Paredes, José; Parikh, Jignesh; Park, Seongbeom; Park, Young Ho; Park, Min Tae; Park, Hyunjin; Park, Sejin; Park, JongSeong; Park, DooHyun; Park, Ji Eun; Park, Yuhyun; Park, Jiyong; Parker, Jason; Parker, Richard; Parodi, Alice; Bautista, Yohn Jairo Parra; Parrish, Marcus; Parthiban, Preethy; Pascariello, Guido; Pascual, Belen; Paskov, Hristo; Pasquini, Lorenzo; Tantaleán, Julio Sergio Eduardo Pastor; Pastur, Lucas; Patel, Raihaan; Patel, Sejal; Paterson, Ross; Paton, Bryan; Patriarche, Julia; Patriat, Rémi; Pattichis, Constantinos; Paul, Debashis; Pawar, Kuldeep; Pawlak, Mikolaj; Paz, Rotem; Pedroto, Maria; Pelekanos, Matthew; Péléraux, Annick; Peng, Dan; Peng, Jing; Pengfei, Tian; Perani, Daniela; Peraza, Luis; Pereira, Fabricio; Pereira, Francisco; Perkins, Diana; Perneczky, Robert; Persad, Umesh; Peter, Jessica; Peters, Mette; Peters, Ruth; Pether, Mark; Petrella, Jeffrey; Petrenko, Roman; Petrone, Paula; Petrov, Dmitry; Pezzatini, Daniele; Pfenning, Andreas; Pham, Chi-Tuan; Philipson, Pete; Phillips, Jeffrey; Phillips, Nicole; Phophalia, Ashish; Phuah, Chia-Ling; Pichai, Shanthi; Pichardo, Cesar; Binette, Alexa Pichet; Pietras, Olga; Pietrzyk, Mariusz; Pike, Kerryn; Pillai, Jagan; Piludu, Francesca; Pineda, Joanna; Ping, He; Pirraglia, Elizabeth; Pither, Richard; Piyush, Ranjan; Pizzi, Nick; Gonzalez, Luis Fernando Planella; Plassard, Andrew; Platero, Carlos; Plocharski, Maciej; Podhorski, Adam; Poggiali, Davide; Poghosyan, Mher; Pohl, Kilian; Poirier, Judes; Polakow, Jean Jacques; Politis, Marios; Poljak, Anne; Poloni, Katia Maria; Poole, Victoria; Poppenk, Jordan; Porsteinsson, Anton; Portelius, Erik; Posta, Filippo; Posthuma, Danielle; 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Nunes; Urrutia, Leandro; Usama, Ahmed; Ustun, Ali Alp; Uus, Alena; Uyar, Muharrem Umit; Visalatchi, V.; Rajinikanth, V.; Vafaei, Amin; Vairre, Darlene; Vaishnavi, Sanjeev; Vaithinathan, Krishnakumar; Vakorin, Vasily; Hernández, Maria Valdés; van Bokhoven, Pieter; Deerlin, Vivianna Van; van der Brug, Marcel; Dijk, Koene Van; van Duijn, Cornelia; van Erp, Theo; van Hooren, Roy; Leemput, Koen Van; van Loenhoud, Anita; Schependom, Jeroen Van; van Velden, Floris; van Westen, Danielle; Vandekar, Simon; Vandijck, Manu; Vanhoutte, Matthieu; Vannini, Patrizia; Vansteenkiste, Elias; Varatharajah, Yogatheesan; Vardarajan, Badri; Varey, Stephen; Vargas, Hernan; Varkey, Julia; Varma, Susheel; Varma, Vijay; Varma, Sudhr; Vasanthakumar, Aparna; Vashi, Tejal; Vasilchuk, Kseniia; Vassileva, Albena; Vatsalan, Dinusha; Vb, Nastaran; Veeramacheneni, Teja; Veeranah, Darvesh; Vejdani, Kaveh; Veldsman, Michele; Velgos, Stefanie; Veloso, Adriano; Vemuri, Prashanthi; Venero, Cesar; Venkataraman, Ashwin; Venkatasubramanian, Palamadai; Venkatraghavan, Vikram; Venugopal, Vinisha; Venugopalan, Janani; Verbeeck, Rudi; Verbel, David; Verbist, Bie; Verdoliva, Luisa; Verma, Ajay Kumar; Verma, Tarun; Verma, Ishan; Veronese, Mattia; Grabovetsky, Alejandro Vicente; Victor, Jonathan; Vieira, Domingos; Vijayaraj, Vinesh Raja; Vikas, Vinutha; Vilaplana, Veronica; Vilaplana, Eduard; Villar, José Ramón; Vincent, Fabrice; Vinkler, Mojmir; Viswanath, Satish; Viswanathan, Srikrishnan; Vitek, Michael; Viti, Mario; Vladutu, Liviu; Vlock, Daniel; Voineskos, Aristotle; Vora, Anvi; Vos, Stephanie; Voyle, Nicola; Vrenken, Hugo; Vu, Tien Duong; Vucetic, Zivjena; Vuksanovic, Vesna; Wachinger, Christian; Wada, Masataka; Wade, Sara; Wagstyl, Konrad; Wahba, Grace; Waldorf, Johannes; Walker, Douglas; Moore, Kim Poki Walker; Walsh, Dominic; Wan, Lin; Wang, Di; Wang, Jane-Ling; Wang, Yongmao; Wang, Huaming; Wang, Miao; Wang, Zi-Rui; Wang, Zheyu; Wang, Z. E.; Wang, Lucy; Wang, Bin; Wang, Lei; Wang, Jason; Wang, Cathy; Wang, Jing; Wang, Xiuyuan; Wang, Dai; Wang, Lingyu; Wang, Jianjia; Wang, Yuan; Wang, Yujiang; Wang, Ming-Liang; Wang, De; Wang, Ling; Wang, Liangliang; Wang, Jianxin; Wang, Zhanyu; Wang, William Shi-Yuan; Wang, HuiFu; Wang, Weixin; Wang, Zhenxun; Wang, Wei; Wang, Junwen; Wang, Yipei; Wang, Shanshan; Wang, Yinying; Wang, Chengjia; Wang, Yuanjia; Wang, Kerry; Wang, Li-San; Wang, Kangcheng; Wang, Rui; Wang, Kai; Wang, Qian; Wang, Xinying; Wang, Xinglong; Wang, Jeff; Wang, Tianyi; Wang, Honglang; Wang, Xuekuan; Wang, Yongxiang; Wang, Hong; Wang, Silun; Waring, Stephen; Warren, David; Wasule, Vijay; Watanabe, Yoshiyuki; Wearn, Alfie; Wee, Chong-Yaw; Wegmayr, Viktor; Wehenkel, Marie; Wei, Rizhen; Wei, Zheng; Wei, Penghu; Wei, Yongbin; Wei, Guohui; Wei, Changshuai; Weichart, Emily; Weiler, Marina; Weise, Christopher; Weisong, Zhong; Weisshuhn, Philip; Weizheng, Yan; Wen, Canhong; Wen, Junhao; Wen, Wei; Wen, Zhenfu; Wen, Hao; Wenzel, Fabian; Werhane, Madeleine; Westaway, Shawn; Westlye, Lars T.; Westman, Eric; Whardana, Adithya; Whitcher, Brandon; Whittington, Alexander; Wicks, Stephen; Wiens, Jenna; Wildsmith, Kristin; Wilhelmsen, Kirk; Wilkinson, Andrea; Willette, Auriel; Williams, Kristin; Williams, Robert; Williams, Rebecca; Wilman, Alan; Wilmot, Beth; Wilson, Lorraine; Win, Juliet; Windpass, F. 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U.; Xiaoxi, Ji; Xiaoya, Zhu; Xiaoying, Qi; Xie, Yuchen; Xie, Zhiyong; Xie, Lei; Xie, Xiancheng; Xin, Huang; Xingyi, Huang; Xiong, Yuanpeng; Xiong, Momiao; Xu, Yongchao; Xu, XiaoYing; Xu, Qiqi; Xu, Lijun; Xu, Hewen; Xu, Yunlong; Xu, Zhilei; Xu, Ziliang; Xu, Jiayuan; Xu, Yadong; Xu, Lu; Xu, Shuoyu; Xue, Fei; Xuesong, Yang; Xz, Zarric; Yadav, Rishi; Yaish, Aviv; Yakushev, Igor; Yamada, Shigeki; Yamamoto, Utako; Yamashita, Alexandre; Yamashita, Fumio; Yan, Li; Yan, Yu; Yan, Jianhua; Yan, Shiju; Yan, Chao-Gan; Yan, Qingyu; Yan, Jingwen; Yan, Chen; Yan, Meng; Yang, Meng; Yang, Bin; Yang, Jiarui; Yang, Zhi; Yang, Xianfeng; Yang, Sli; Yang, Liang; Yang, Robert; Yang, Aleex; Yang, Hyungjeong; Yang, ChengHao; Yang, Haiwei; Yang, Jhih-Ying; Yang, Xu; Yangyang, Xia; Yao, Xufeng; Yaping, Wang; Yaqiong, Bi; Yared, Surafael; Yashin, Anatoliy; Yassine, Hussein; Yau, Tat; Yavorsky, Christian; Ye, Chang; Ye, Byoung Seok; Ye, Joy; Ye, Yongkai; Ye, Yuting; Ye, Wu; Yelampalli, Praveen Kumar Reddy; Thomas Yeo, B. T.; Yi, Zhao; Yi, Wang; Yi, Yuan; Yijing, Ruan; Yilmaz, Zeynep; Yin, Baocai; Yin, Tang-Kai; Ying, Li; Yingjiang, Wu; Yiyun, Yu; Yoichiro, Sato; Yokoyama, Jennifer; Yong, Zhang; Yonghong, Shi; Yonghu, Guo; Yongqi, Huang; Yoo, Inwan; Yoon, So Hoon; Yoon, Jee Seok; Yoon, Seung-Yong; Yoshida, Hisako; Yoshio, Kiyofumi; You, Jia; You, You; You, Xiaozhen; Young, Alexandra; Yu, Peng; Yu, Jaemin; Yu, Lin; Yu, Sui; Yu, Philip S.; Yu, Guan; Yu, Fengli; Yu, Jiaxin; Yu, Shaode; Yu, Suizhi; Yu, Donghyeon; Yuan, Yue; Yuan, Shaofeng; Yuan, Shuai; Yuanyuan, Chen; Yue, Ye; Yue, Cynthia; Yunaiyama, Daisuke; YushaoChen, YushaoChen; Yushkevich, Paul; Yx, W.; Zafeiris, Dimitrios; Zagorchev, Lyubomir; Zalocusky, Kelly; Zamorano, Francisco; Zandifar, Azar; Zanella, Laura; Zang, Yufeng; Zanke, Brent; Zaranek, Alexander Wait; Zawaideh, Mazen; Zawawi, Nour; Zee, Jarcy; Zeighami, Yashar; Zeitzer, Jamie; Zemla, Jeffrey; Zeng, Qi; Zeng, Fan; Zeng, Donglin; Zeng, Wei; Zeng, Yingying; Ženko, Bernard; Zereshki, Ehsan; Zeskind, Benjamin; Zhan, Justin; Zhang, Chenghui; Zhang, Yixuan; Zhang, Xiong; Zhang, Li; Zhang, Zhi; Zhang, Jianlun; Zhang, Jing; Zhang, Jianwei; Zhang, Yufei; Zhang, Sai; Zhang, Shan; Zhang, Xiaoling; Zhang, Changle; Zhang, Qingtian; Zhang, Fan; Zhang, Xiangliang; Zhang, Linda; Zhang, Yingteng; Zhang, Jianhua; Zhang, Xiaoqun; Zhang, Ziwei; Zhang, Ping; Zhang, Tuo; Zhang, Bin; Zhang, Hong; Zhang, Yuping; Zhang, Zhan; Zhang, Yu; Zhang, Jie; Zhang, Lijun; Zhang, ChengZhi; Zhang, Jian; Zhang, Peng; Zhang, Zhengjun; Zhang, Wen; Zhang, Guishan; Zhang, Xixue; Zhang, Tianhao; Zhangyi, Zhangyi; Zhao, Wenting; Zhao, Xuewu; Zhao, Peng; Zhao, Yifei; Zhao, Xing-Ming; Zhao, Di; Zhao, Qian; Zhao, Yang; Zhao, Lu; Zheng, Lijuan; Zheng, Kaiping; Zheng, Weihao; Zheng, Du; Zheng, Muhua; Zheng, Qiang; Zheng, Bichen; Zheng, Lihong; Zhong, Wenxuan; Zhong, Yujia; Zhou, Tian; Zhou, Jiayin; Zhou, Zhen; Zhou, Yongxia; Zhou, Lixin; Zhou, Bowei; Zhou, Juan; Zhou, Qixin; Zhou, Levi; Zhou, Fengfeng; Zhou, Jiayu; Zhou, Luping; Zhou, Yun; Zhou, Yingjie; Zhou, Ying; Zhou, Frankie; Zhu, Zonghai; Zhu, Xiaoya; Zhu, Xiaolu; Zhu, Shanfeng; Zhu, David; Zhu, Hongxiao; Zhu, Lida; Zhu, Xiaofeng; Zhuxin, Jin; Zigon, Robert; Zille, Pascal; Zimmer, Eduardo; Zimmer, Jennifer; Zimmerman, Earl; Zimmerman, Karl; Zimmermann, Joelle; Zipperer, Erin; Zito, Giancarlo; Zou, Yang; Zuo, Maria; Zywiec, Andrew

2017-01-01

Neuroimaging measurements derived from magnetic resonance imaging provide important information required for detecting changes related to the progression of mild cognitive impairment (MCI). Cortical features and changes play a crucial role in revealing unique anatomical patterns of brain regions,

Brain volumes predict neurodevelopment in adolescents after surgery for congenital heart disease.

Science.gov (United States)

von Rhein, Michael; Buchmann, Andreas; Hagmann, Cornelia; Huber, Reto; Klaver, Peter; Knirsch, Walter; Latal, Beatrice

2014-01-01

Patients with complex congenital heart disease are at risk for neurodevelopmental impairments. Evidence suggests that brain maturation can be delayed and pre- and postoperative brain injury may occur, and there is limited information on the long-term effect of congenital heart disease on brain development and function in adolescent patients. At a mean age of 13.8 years, 39 adolescent survivors of childhood cardiopulmonary bypass surgery with no structural brain lesions evident through conventional cerebral magnetic resonance imaging and 32 healthy control subjects underwent extensive neurodevelopmental assessment and cerebral magnetic resonance imaging. Cerebral scans were analysed quantitatively using surface-based and voxel-based morphometry. Compared with control subjects, patients had lower total brain (P = 0.003), white matter (P = 0.004) and cortical grey matter (P = 0.005) volumes, whereas cerebrospinal fluid volumes were not different. Regional brain volume reduction ranged from 5.3% (cortical grey matter) to 11% (corpus callosum). Adolescents with cyanotic heart disease showed more brain volume loss than those with acyanotic heart disease, particularly in the white matter, thalami, hippocampi and corpus callosum (all P-values Brain volume reduction correlated significantly with cognitive, motor and executive functions (grey matter: P < 0.05, white matter: P < 0.01). Our findings suggest that there are long-lasting cerebral changes in adolescent survivors of cardiopulmonary bypass surgery for congenital heart disease and that these changes are associated with functional outcome.

Alterations of whole-brain cortical area and thickness in mild cognitive impairment and Alzheimer's disease.

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Li, Chuanming; Wang, Jian; Gui, Li; Zheng, Jian; Liu, Chen; Du, Hanjian

2011-01-01

Gray matter volume and density of several brain regions, determined by magnetic resonance imaging (MRI), are decreased in Alzheimer's disease (AD). Animal studies have indicated that changes in cortical area size is relevant to thinking and behavior, but alterations of cortical area and thickness in the brains of individuals with AD or its likely precursor, mild cognitive impairment (MCI), have not been reported. In this study, 25 MCI subjects, 30 AD subjects, and 30 age-matched normal controls were recruited for brain MRI scans and Functional Activities Questionnaire (FAQ) assessments. Based on the model using FreeSurfer software, two brain lobes were divided into various regions according to the Desikan-Killiany atlas and the cortical area and thickness of every region was compared and analyzed. We found a significant increase in cortical area of several regions in the frontal and temporal cortices, which correlated negatively with MMSE scores, and a significant decrease in cortical area of several regions in the parietal cortex and the cingulate gyrus in AD subjects. Increased cortical area was also seen in some regions of the frontal and temporal cortices in MCI subjects, whereas the cortical thickness of the same regions was decreased. Our observations suggest characteristic differences of the cortical area and thickness in MCI, AD, and normal control subjects, and these changes may help diagnose both MCI and AD.

Impaired cognitive control mediates the relationship between cortical thickness of the superior frontal gyrus and role functioning in schizophrenia.

Science.gov (United States)

Tully, Laura M; Lincoln, Sarah Hope; Liyanage-Don, Nadia; Hooker, Christine I

2014-02-01

Structural abnormalities in the lateral prefrontal cortex (LPFC) are well-documented in schizophrenia and recent evidence suggests that these abnormalities relate to functional outcome. Cognitive control mechanisms, reliant on the LPFC, are impaired in schizophrenia and predict functional outcome, thus impaired cognitive control could mediate the relationship between neuroanatomical abnormalities in the LPFC and functional outcome. We used surface-based morphometry to investigate relationships between cortical surface characteristics, cognitive control, and measures of social and role functioning in 26 individuals with schizophrenia and 29 healthy controls. Results demonstrate that schizophrenia participants had thinner cortex in a region of the superior frontal gyrus (BA10). Across all participants, decreased cortical thickness in this region related to decreased cognitive control and decreased role functioning. Moreover, cognitive control fully mediated the relationship between cortical thickness in the superior frontal gyrus and role functioning, indicating that neuroanatomical abnormalities in the LPFC adversely impact role functioning via impaired cognitive control processes. Copyright © 2013 Elsevier B.V. All rights reserved.

A population-based study of visual impairment among pre-school children in Beijing: the Beijing study of visual impairment in children.

Science.gov (United States)

Lu, Qing; Zheng, Yuanyuan; Sun, Baochen; Cui, Tongtong; Congdon, Nathan; Hu, Ailian; Chen, Jianhua; Shi, Jiliang

2009-06-01

To evaluate the prevalence and causes of visual impairment among Chinese children aged 3 to 6 years in Beijing. Population-based prevalence survey. Presenting and pinhole visual acuity were tested using picture optotypes or, in children with pinhole vision children with pinhole vision children aged 3 to 6 years (95.3% of sample). Subjects with bilateral correctable low vision (presenting vision or= 6/18) numbered 57 (0.322%; 95% confidence interval [CI], 0.237% to 0.403%), while 14 (0.079%; 95% CI, 0.038% to 0.120%) had bilateral uncorrectable low vision (best-corrected vision of or= 3/60), and 5 subjects (0.028%; 95% CI, 0.004% to 0.054%) were bilaterally blind (best-corrected acuity visual impairment included: refractive error in 57 children (75%), hereditary factors (microphthalmos, congenital cataract, congenital motor nystagmus, albinism, and optic nerve disease) in 13 children (17.1 %), amblyopia in 3 children (3.95%), and cortical blindness in 1 child (1.3%). The cause of visual impairment could not be established in 2 (2.63%) children. The prevalence of visual impairment did not differ by gender, but correctable low vision was significantly (P children. The leading causes of visual impairment among Chinese preschool-aged children are refractive error and hereditary eye diseases. A higher prevalence of refractive error is already present among urban as compared with rural children in this preschool population.

Pronounced impairment of everyday skills and self-care in posterior cortical atrophy.

Science.gov (United States)

Shakespeare, Timothy J; Yong, Keir X X; Foxe, David; Hodges, John; Crutch, Sebastian J

2015-01-01

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by progressive visual dysfunction and parietal, occipital, and occipitotemporal atrophy. The aim of this study was to compare the impact of PCA and typical Alzheimer's disease (tAD) on everyday functional abilities and neuropsychiatric status. The Cambridge Behavioural Inventory-Revised was given to carers of 32 PCA and 71 tAD patients. PCA patients showed significantly greater impairment in everyday skills and self-care while the tAD group showed greater impairment in aspects of memory and orientation, and motivation. We suggest that PCA poses specific challenges for those caring for people affected by the condition.

Are Language and Social Communication Intact in Children with Congenital Visual Impairment at School Age?

Science.gov (United States)

Tadic, Valerie; Pring, Linda; Dale, Naomi

2010-01-01

Background: Development of children with congenital visual impairment (VI) has been associated with vulnerable socio-communicative outcomes often bearing striking similarities to those of sighted children with autism. To date, very little is known about language and social communication in children with VI of normal intelligence. Methods: We…

Examining pitch and numerical magnitude processing in congenital amusia: A quasi-experimental pilot study.

Science.gov (United States)

Nunes-Silva, Marilia; Moura, Ricardo; Lopes-Silva, Júlia Beatriz; Haase, Vitor Geraldi

2016-08-01

Congenital amusia is a developmental disorder associated with deficits in pitch height discrimination or in integrating pitch sequences into melodies. This quasi-experimental pilot study investigated whether there is an association between pitch and numerical processing deficits in congenital amusia. Since pitch height discrimination is considered a form of magnitude processing, we investigated whether individuals with amusia present an impairment in numerical magnitude processing, which would reflect damage to a generalized magnitude system. Alternatively, we investigated whether the numerical processing deficit would reflect a disconnection between nonsymbolic and symbolic number representations. This study was conducted with 11 adult individuals with congenital amusia and a control comparison group of 6 typically developing individuals. Participants performed nonsymbolic and symbolic magnitude comparisons and number line tasks. Results were available from previous testing using the Montreal Battery of Evaluation of Amusia (MBEA) and a pitch change detection task (PCD). Compared to the controls, individuals with amusia exhibited no significant differences in their performance on both the number line and the nonsymbolic magnitude tasks. Nevertheless, they showed significantly worse performance on the symbolic magnitude task. Moreover, individuals with congenital amusia, who presented worse performance in the Meter subtest, also presented less precise nonsymbolic numerical representation. The relationship between meter and nonsymbolic numerical discrimination could indicate a general ratio processing deficit. The finding of preserved nonsymbolic numerical magnitude discrimination and mental number line representations, with impaired symbolic number processing, in individuals with congenital amusia indicates that (a) pitch height and numerical magnitude processing may not share common neural representations, and (b) in addition to pitch processing, individuals with

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

2010-06-15

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

Science.gov (United States)

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-01-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

Science.gov (United States)

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-04-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

APC/C-Cdh1 coordinates neurogenesis and cortical size during development

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Delgado-Esteban, Maria; García-Higuera, Irene; Maestre, Carolina; Moreno, Sergio; Almeida, Angeles

2013-12-01

The morphology of the adult brain is the result of a delicate balance between neural progenitor proliferation and the initiation of neurogenesis in the embryonic period. Here we assessed whether the anaphase-promoting complex/cyclosome (APC/C) cofactor, Cdh1—which regulates mitosis exit and G1-phase length in dividing cells—regulates neurogenesis in vivo. We use an embryo-restricted Cdh1 knockout mouse model and show that functional APC/C-Cdh1 ubiquitin ligase activity is required for both terminal differentiation of cortical neurons in vitro and neurogenesis in vivo. Further, genetic ablation of Cdh1 impairs the ability of APC/C to promote neurogenesis by delaying the exit of the progenitor cells from the cell cycle. This causes replicative stress and p53-mediated apoptotic death resulting in decreased number of cortical neurons and cortex size. These results demonstrate that APC/C-Cdh1 coordinates cortical neurogenesis and size, thus posing Cdh1 in the molecular pathogenesis of congenital neurodevelopmental disorders, such as microcephaly.

The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

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Kletke, S; Batmanabane, V; Dai, T; Vincent, A; Li, S; Gordon, K A; Papsin, B C; Cushing, S L; Héon, E

2017-07-01

The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Pragmatic Abilities in Children with Congenital Visual Impairment: An Exploration of Non-literal Language and Advanced Theory of Mind Understanding

NARCIS (Netherlands)

Pijnacker, J.; Vervloed, M.P.J.; Steenbergen, B.

2012-01-01

Children with congenital visual impairment have been reported to be delayed in theory of mind development. So far, research focused on first-order theory of mind, and included mainly blind children, whereas the majority of visually impaired children is not totally blind. The present study set out to

The association between intra- and juxta-cortical pathology and cognitive impairment in multiple sclerosis by quantitative T2* mapping at 7 T MRI.

Science.gov (United States)

Louapre, Céline; Govindarajan, Sindhuja T; Giannì, Costanza; Madigan, Nancy; Nielsen, A Scott; Sloane, Jacob A; Kinkel, Revere P; Mainero, Caterina

2016-01-01

Using quantitative T 2 * at 7 Tesla (T) magnetic resonance imaging, we investigated whether impairment in selective cognitive functions in multiple sclerosis (MS) can be explained by pathology in specific areas and/or layers of the cortex. Thirty-one MS patients underwent neuropsychological evaluation, acquisition of 7 T multi-echo T 2 * gradient-echo sequences, and 3 T anatomical images for cortical surfaces reconstruction. Seventeen age-matched healthy subjects served as controls. Cortical T 2 * maps were sampled at various depths throughout the cortex and juxtacortex. Relation between T 2 *, neuropsychological scores and a cognitive index (CI), calculated from a principal component analysis on the whole battery, was tested by a general linear model. Cognitive impairment correlated with T 2 * increase, independently from white matter lesions and cortical thickness, in cortical areas highly relevant for cognition belonging to the default-mode network (p < 0.05 corrected). Dysfunction in different cognitive functions correlated with longer T 2 * in selective cortical regions, most of which showed longer T 2 * relative to controls. For most tests, this association was strongest in deeper cortical layers. Executive dysfunction, however, was mainly related with pathology in juxtameningeal cortex. T 2 * explained up to 20% of the variance of the CI, independently of conventional imaging metrics (adjusted-R 2 : 52-67%, p < 5.10 - 4 ). Location of pathology across the cortical width and mantle showed selective correlation with impairment in differing cognitive domains. These findings may guide studies at lower field strength designed to develop surrogate markers of cognitive impairment in MS.

Impaired encoding of rapid pitch information underlies perception and memory deficits in congenital amusia

OpenAIRE

Philippe Albouy; Marion Cousineau; Anne Caclin; Barbara Tillmann; Isabelle Peretz

2016-01-01

Recent theories suggest that the basis of neurodevelopmental auditory disorders such as dyslexia or specific language impairment might be a low-level sensory dysfunction. In the present study we test this hypothesis in congenital amusia, a neurodevelopmental disorder characterized by severe deficits in the processing of pitch-based material. We manipulated the temporal characteristics of auditory stimuli and investigated the influence of the time given to encode pitch information on participa...

Chronic post-stroke oropharyngeal dysphagia is associated with impaired cortical activation to pharyngeal sensory inputs.

Science.gov (United States)

Cabib, C; Ortega, O; Vilardell, N; Mundet, L; Clavé, P; Rofes, L

2017-11-01

The role of afferent sensory pathways in the pathophysiology of post-stroke oropharyngeal dysphagia is not known. We hypothesized that patients with chronic post-stroke dysphagia (PSD) would show impaired sensory cortical activation in the ipsilesional hemisphere. We studied 28 chronic unilateral post-stroke patients [17 PSD and 11 post-stroke non-dysphagic patients (PSnD)] and 11 age-matched healthy volunteers. Event-related sensory-evoked potentials to pharyngeal stimulation (pSEP) and sensory thresholds were assessed. We analyzed pSEP peak latency and amplitude (N1, P1, N2 and P2), and neurotopographic stroke characteristics from brain magnetic resonance imaging. Healthy volunteers presented a highly symmetric bihemispheric cortical pattern of brain activation at centroparietal areas (N1-P1 and N2-P2) to pharyngeal stimuli. In contrast, an asymmetric pattern of reduced ipsilesional activation was found in PSD (N2-P2; P = 0.026) but not in PSnD. PSD presented impaired safety of swallow (penetration-aspiration score: 4.3 ± 1.6), delayed laryngeal vestibule closure (360.0 ± 70.0 ms) and higher National Institute of Health Stroke Scale (7.0 ± 6.2 vs. 1.9 ± 1.4, P = 0.001) and Fazekas scores (3.0 ± 1.4 vs. 2.0 ± 1.1; P dysphagia is associated with stroke severity and degree of leukoaraoisis. Impaired conduction and cortical integration of pharyngeal sensory inputs at stroke site are key features of chronic PSD. These findings highlight the role of sensory pathways in the pathophysiology of post-stroke oropharyngeal dysphagia and offer a potential target for future treatments. © 2017 EAN.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Basic visual function and cortical thickness patterns in posterior cortical atrophy.

Science.gov (United States)

Lehmann, Manja; Barnes, Josephine; Ridgway, Gerard R; Wattam-Bell, John; Warrington, Elizabeth K; Fox, Nick C; Crutch, Sebastian J

2011-09-01

Posterior cortical atrophy (PCA) is characterized by a progressive decline in higher-visual object and space processing, but the extent to which these deficits are underpinned by basic visual impairments is unknown. This study aimed to assess basic and higher-order visual deficits in 21 PCA patients. Basic visual skills including form detection and discrimination, color discrimination, motion coherence, and point localization were measured, and associations and dissociations between specific basic visual functions and measures of higher-order object and space perception were identified. All participants showed impairment in at least one aspect of basic visual processing. However, a number of dissociations between basic visual skills indicated a heterogeneous pattern of visual impairment among the PCA patients. Furthermore, basic visual impairments were associated with particular higher-order object and space perception deficits, but not with nonvisual parietal tasks, suggesting the specific involvement of visual networks in PCA. Cortical thickness analysis revealed trends toward lower cortical thickness in occipitotemporal (ventral) and occipitoparietal (dorsal) regions in patients with visuoperceptual and visuospatial deficits, respectively. However, there was also a lot of overlap in their patterns of cortical thinning. These findings suggest that different presentations of PCA represent points in a continuum of phenotypical variation.

Pragmatic Abilities in Children with Congenital Visual Impairment: An Exploration of Non-Literal Language and Advanced Theory of Mind Understanding

Science.gov (United States)

Pijnacker, Judith; Vervloed, Mathijs P. J.; Steenbergen, Bert

2012-01-01

Children with congenital visual impairment have been reported to be delayed in theory of mind development. So far, research focused on first-order theory of mind, and included mainly blind children, whereas the majority of visually impaired children is not totally blind. The present study set out to explore whether children with a broader range of…

Cortical atrophy rates in Alzheimer's patients and subjects with mild cognitive impairment from the AddNeuroMed data collection

DEFF Research Database (Denmark)

Eskildsen, Simon Fristed; Westman, Eric; Gwadry-Sridhar, Femida

2010-01-01

Background: The AddNeuroMed project is a multi-centre European project which aims to identify biomarkers in Alzheimer's disease (AD). In this study we measured the rate of cortical atrophy in AD patients, subjects with mild cognitive impairment (MCI), and healthy controls (HC) using MRI. Methods...... quality control for both the acquisition and image processing were included in the study. Cortical thickness was measured using FACE (fast accurate cortex extraction) and averaged within main lobes using a stereotaxic atlas. Atrophy rates were calculated as percent decrease in cortical thickness and rate...

Impaired response inhibition and excess cortical thickness as candidate endophenotypes for trichotillomania

DEFF Research Database (Denmark)

Odlaug, Brian Lawrence; Chamberlain, Samuel R; Derbyshire, Katie L

2014-01-01

occupying an intermediate position. Permutation cluster analysis revealed significant excesses of cortical thickness in patients and their relatives compared to controls, in right inferior/middle frontal gyri (Brodmann Area, BA 47 & 11), right lingual gyrus (BA 18), left superior temporal cortex (BA 21......Trichotillomania is characterized by repetitive pulling out of one's own hair. Impaired response inhibition has been identified in patients with trichotillomania, along with gray matter density changes in distributed neural regions including frontal cortex. The objective of this study...

Visual impairment evaluation in 119 children with congenital Zika syndrome.

Science.gov (United States)

Ventura, Liana O; Ventura, Camila V; Dias, Natália de C; Vilar, Isabelle G; Gois, Adriana L; Arantes, Tiago E; Fernandes, Luciene C; Chiang, Michael F; Miller, Marilyn T; Lawrence, Linda

2018-06-01

To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P visual development milestones were less achieved by infants with CZS compared to controls (P visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Brain mapping in a patient with congenital blindness – a case for multimodal approaches

Directory of Open Access Journals (Sweden)

Jarod L Roland

2013-07-01

Full Text Available Recent advances in basic neuroscience research across a wide range of methodologies have contributed significantly to our understanding of human cortical electrophysiology and functional brain imaging. Translation of this research into clinical neurosurgery has opened doors for advanced mapping of functionality that previously was prohibitively difficult, if not impossible. Here we present the case of a unique individual with congenital blindness and medically refractory epilepsy who underwent neurosurgical treatment of her seizures. Pre-operative evaluation presented the challenge of accurately and robustly mapping the cerebral cortex for an individual with a high probability of significant cortical re-organization. Additionally, a blind individual has unique priorities in one’s ability to read Braille by touch and sense the environment primarily by sound than the non-vision impaired person. For these reasons we employed additional measures to map sensory, motor, speech, language, and auditory perception by employing a number of cortical electrophysiologic mapping and functional magnetic resonance imaging methods. Our data show promising results in the application of these adjunctive methods in the pre-operative mapping of otherwise difficult to localize, and highly variable, functional cortical areas.

Impaired cortical processing of inspiratory loads in children with chronic respiratory defects

Directory of Open Access Journals (Sweden)

Clément Annick

2007-09-01

Full Text Available Abstract Background Inspiratory occlusion evoked cortical potentials (the respiratory related-evoked potentials, RREPs bear witness of the processing of changes in respiratory mechanics by the brain. Their impairment in children having suffered near-fatal asthma supports the hypothesis that relates asthma severity with the ability of the patients to perceive respiratory changes. It is not known whether or not chronic respiratory defects are associated with an alteration in brain processing of inspiratory loads. The aim of the present study was to compare the presence, the latencies and the amplitudes of the P1, N1, P2, and N2 components of the RREPs in children with chronic lung or neuromuscular disease. Methods RREPs were recorded in patients with stable asthma (n = 21, cystic fibrosis (n = 32, and neuromuscular disease (n = 16 and in healthy controls (n = 11. Results The 4 RREP components were significantly less frequently observed in the 3 groups of patients than in the controls. Within the patient groups, the N1 and the P2 components were significantly less frequently observed in the patients with asthma (16/21 for both components and cystic fibrosis (20/32 and 14/32 than in the patients with neuromuscular disease (15/16 and 16/16. When present, the latencies and amplitudes of the 4 components were similar in the patients and controls. Conclusion Chronic ventilatory defects in children are associated with an impaired cortical processing of afferent respiratory signals.

Hearing impairment in children with congenital cytomegalovirus (CMV) infection based on distortion product otoacoustic emissions (DPOAE) and brain evoked response audiometry stimulus click (BERA Click) examinations

Science.gov (United States)

Airlangga, T. J.; Mangunatmadja, I.; Prihartono, J.; Zizlavsky, S.

2017-08-01

Congenital cytomegalovirus (congenital CMV) infection is a leading factor of nongenetic sensorineural hearing loss in children. Hearing loss caused by CMV infection does not have a pathognomonic configuration hence further research is needed. The development of knowledge on hearing loss caused by congenital CMV infection is progressing in many countries. Due to a lack of research in the context of Indonesia, this study assesses hearing impairment in children with congenital CMV infection in Indonesia, more specifically in the Cipto Mangunkusumo Hospital. Our objective was to profile hearing impairment in children 0-5 years of age with congenital CMV infection using Distortion Product Otoacoustic Emissions (DPOAE) and Brain Evoked Response Audiometry Stimulus Click (BERA Click) examinations. This cross-sectional study was conducted in the Cipto Mangunkusum Hospital from November, 2015 to May 2016 with 27 children 0-5 years of age with congenital CMV infection. Of individual ears studied, 58.0% exhibited sensorineural hearing loss. There was a significant relationship between developmental delay and incidence of sensorineural hearing loss. Subjects with a developmental delay were 6.57 times more likely (CI 95%; 1.88-22.87) to experience sensorineural hearing loss. Congenital CMV infection has an important role in causing sensorineural hearing loss in children.

Long-term exposure to noise impairs cortical sound processing and attention control.

Science.gov (United States)

Kujala, Teija; Shtyrov, Yury; Winkler, Istvan; Saher, Marieke; Tervaniemi, Mari; Sallinen, Mikael; Teder-Sälejärvi, Wolfgang; Alho, Kimmo; Reinikainen, Kalevi; Näätänen, Risto

2004-11-01

Long-term exposure to noise impairs human health, causing pathological changes in the inner ear as well as other anatomical and physiological deficits. Numerous individuals are daily exposed to excessive noise. However, there is a lack of systematic research on the effects of noise on cortical function. Here we report data showing that long-term exposure to noise has a persistent effect on central auditory processing and leads to concurrent behavioral deficits. We found that speech-sound discrimination was impaired in noise-exposed individuals, as indicated by behavioral responses and the mismatch negativity brain response. Furthermore, irrelevant sounds increased the distractibility of the noise-exposed subjects, which was shown by increased interference in task performance and aberrant brain responses. These results demonstrate that long-term exposure to noise has long-lasting detrimental effects on central auditory processing and attention control.

Impaired EphA4 signaling leads to congenital hydronephrosis, renal injury, and hypertension

DEFF Research Database (Denmark)

Sällström, Johan; Peuckert, Christiane; Gao, Xiang

2013-01-01

Experimental hydronephrosis induced by partial ureteral obstruction at 3 wk of age causes hypertension and renal impairment in adult rats and mice. Signaling by Ephrin receptors (Eph) and their ligands (ephrins) importantly regulates embryonic development. Genetically modified mice, where...... the cytoplasmic domain of the EphA4 receptor has been substituted by enhanced green fluorescent protein (EphA4(gf/gf)), develop spontaneous hydronephrosis and provide a model for further studies of the disorder. The present study aimed to determine if animals with congenital hydronephrosis develop hypertension...... and renal injuries, similar to that of experimental hydronephrosis. Ultrasound and Doppler techniques were used to visualize renal impairment in the adult mice. Telemetric blood pressure measurements were performed in EphA4(gf/gf) mice and littermate controls (EphA4(+/+)) during normal (0.7% NaCl)- and high...

Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

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Self, Lauren; Dagenais, Lynn; Shevell, Michael

2012-08-01

The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Impairments in musical abilities reflected in the auditory brainstem: evidence from congenital amusia.

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Lehmann, Alexandre; Skoe, Erika; Moreau, Patricia; Peretz, Isabelle; Kraus, Nina

2015-07-01

Congenital amusia is a neurogenetic condition, characterized by a deficit in music perception and production, not explained by hearing loss, brain damage or lack of exposure to music. Despite inferior musical performance, amusics exhibit normal auditory cortical responses, with abnormal neural correlates suggested to lie beyond auditory cortices. Here we show, using auditory brainstem responses to complex sounds in humans, that fine-grained automatic processing of sounds is impoverished in amusia. Compared with matched non-musician controls, spectral amplitude was decreased in amusics for higher harmonic components of the auditory brainstem response. We also found a delayed response to the early transient aspects of the auditory stimulus in amusics. Neural measures of spectral amplitude and response timing correlated with participants' behavioral assessments of music processing. We demonstrate, for the first time, that amusia affects how complex acoustic signals are processed in the auditory brainstem. This neural signature of amusia mirrors what is observed in musicians, such that the aspects of the auditory brainstem responses that are enhanced in musicians are degraded in amusics. By showing that gradients of music abilities are reflected in the auditory brainstem, our findings have implications not only for current models of amusia but also for auditory functioning in general. © 2015 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Static and Dynamic Balance in Congenital Severe to Profound Hearing-Impaired Children

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Farideh HajiHeydari

2011-09-01

Full Text Available Background and Aim: Research conducted since the early 1900s has consistently identified differences between deaf and hearing children on performance of a wide variety of motor tasks, most notably balance. Our study was performed to test static and dynamic balance skills in congenital severe to profound hearing impaired children in comparison with normal age-matched children.Methods: This cross-sectional study was conducted on 30 severe to profound hearing impaired and 40 normal children with age 6 to 10 years old. Bruininks-Oseretsky test of motor proficiency 2, balance subset with 9 parts was used for evaluation of balance skills.Results: Hearing-impaired children showed 16.7 to 100% fail results in 7 parts of the balance subset. In normal children fail result was revealed just in 3 parts of the balance subset from 2.5 to 57.5%, and differences between two groups were significant (p<0.0001. There was a significant difference between two groups in two static balance skills of standing on one leg on a line and standing on one leg on a balance beam with eyes closed (p<0.0001.conclusion: It seems that development of static balance skills are longer than dynamic ones. Because severe to profound hearing-impaired children showed more weakness than normal children in both static and dynamic balance abilities, functional tests of balance proficiency can help to identify balance disorders in these children.

The association between intra- and juxta-cortical pathology and cognitive impairment in multiple sclerosis by quantitative T2* mapping at 7 T MRI

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Céline Louapre, MD, PhD

2016-01-01

Location of pathology across the cortical width and mantle showed selective correlation with impairment in differing cognitive domains. These findings may guide studies at lower field strength designed to develop surrogate markers of cognitive impairment in MS.

Symptoms of Autism among Children with Congenital Deafblindness

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Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

Chronic Underactivity of Medial Frontal Cortical β2-Containing Nicotinic Receptors Increases Clozapine-Induced Working Memory Impairment in Female Rats

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Levin, Edward D.; Perkins, Abigail; Brotherton, Terrell; Qazi, Melissa; Berez, Chantal; Montalvo-Ortiz, Janitza; Davis, Kasey; Williams, Paul; Christopher, N. Channelle

2009-01-01

Nicotinic receptor decreases in the frontal cortex and hippocampus are important mediators of cognitive impairment in both schizophrenia and Alzheimer's disease. Drug treatments for these diseases should take into account the impacts of compromised brain function on drug response. This study investigated the impact of compromised nicotinic receptor activity in the frontal cortex in rats on memory function. Since both Alzheimer's disease and schizophrenia can involve psychosis, antipsychotic drugs are often given. The impacts of antipsychotic drugs on cognitive function have been found to be quite variable. It is the hypothesis of this and previous studies that the cognitive effects of antispychotic drugs on cognitive function depend on the integrity of brain systems involved in cognition. Previously in studies of the hippocampus, we found that chronic inhibition of β2-containing nicotinic receptors with dihydro-β-erythrodine (DHβE) impaired working memory and that this effect was attenuated by the antipsychotic drug clozapine. In contrast, chronic hippocampal α7 nicotinic receptor blockade with methyllycaconitine (MLA) potentiated the clozapine-induced memory impairment which is seen in rats without compromised nicotinic receptor activity. The current study determined medial frontal cortical α7 and β2-containing nicotinic receptor involvement in memory and the interactions with antipsychotic drug therapy with clozapine. Chronic DHβE and MLA infusion effects and interactions with systemic clozapine were assessed in female rats tested for memory on the radial-arm maze. Antipsychotic drug interactions with chronic systemic nicotine were investigated because nicotinic procognitive treatment has been proposed. The same local infusion DHβE dose that impaired memory with hippocampal infusion did not impair memory when infused in the medial frontal cortex. Frontal DHβE infusion potentiated clozapine-induced memory impairment, whereas previously the memory

Chronic underactivity of medial frontal cortical beta2-containing nicotinic receptors increases clozapine-induced working memory impairment in female rats.

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Levin, Edward D; Perkins, Abigail; Brotherton, Terrell; Qazi, Melissa; Berez, Chantal; Montalvo-Ortiz, Janitza; Davis, Kasey; Williams, Paul; Christopher, N Channelle

2009-03-17

Nicotinic receptor decreases in the frontal cortex and hippocampus are important mediators of cognitive impairment in both schizophrenia and Alzheimer's disease. Drug treatments for these diseases should take into account the impacts of compromised brain function on drug response. This study investigated the impact of compromised nicotinic receptor activity in the frontal cortex in rats on memory function. Since both Alzheimer's disease and schizophrenia can involve psychosis, antipsychotic drugs are often given. The impacts of antipsychotic drugs on cognitive function have been found to be quite variable. It is the hypothesis of this and previous studies that the cognitive effects of antispychotic drugs on cognitive function depend on the integrity of brain systems involved in cognition. Previously in studies of the hippocampus, we found that chronic inhibition of beta2-containing nicotinic receptors with dihydro-beta-erythrodine (DHbetaE) impaired working memory and that this effect was attenuated by the antipsychotic drug clozapine. In contrast, chronic hippocampal alpha7 nicotinic receptor blockade with methyllycaconitine (MLA) potentiated the clozapine-induced memory impairment which is seen in rats without compromised nicotinic receptor activity. The current study determined medial frontal cortical alpha7 and beta2-containing nicotinic receptor involvement in memory and the interactions with antipsychotic drug therapy with clozapine. Chronic DHbetaE and MLA infusion effects and interactions with systemic clozapine were assessed in female rats tested for memory on the radial-arm maze. Antipsychotic drug interactions with chronic systemic nicotine were investigated because nicotinic procognitive treatment has been proposed. The same local infusion DHbetaE dose that impaired memory with hippocampal infusion did not impair memory when infused in the medial frontal cortex. Frontal DHbetaE infusion potentiated clozapine-induced memory impairment, whereas previously

Conversion Discriminative Analysis on Mild Cognitive Impairment Using Multiple Cortical Features from MR Images

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Shengwen Guo

2017-05-01

Full Text Available Neuroimaging measurements derived from magnetic resonance imaging provide important information required for detecting changes related to the progression of mild cognitive impairment (MCI. Cortical features and changes play a crucial role in revealing unique anatomical patterns of brain regions, and further differentiate MCI patients from normal states. Four cortical features, namely, gray matter volume, cortical thickness, surface area, and mean curvature, were explored for discriminative analysis among three groups including the stable MCI (sMCI, the converted MCI (cMCI, and the normal control (NC groups. In this study, 158 subjects (72 NC, 46 sMCI, and 40 cMCI were selected from the Alzheimer's Disease Neuroimaging Initiative. A sparse-constrained regression model based on the l2-1-norm was introduced to reduce the feature dimensionality and retrieve essential features for the discrimination of the three groups by using a support vector machine (SVM. An optimized strategy of feature addition based on the weight of each feature was adopted for the SVM classifier in order to achieve the best classification performance. The baseline cortical features combined with the longitudinal measurements for 2 years of follow-up data yielded prominent classification results. In particular, the cortical thickness produced a classification with 98.84% accuracy, 97.5% sensitivity, and 100% specificity for the sMCI–cMCI comparison; 92.37% accuracy, 84.78% sensitivity, and 97.22% specificity for the cMCI–NC comparison; and 93.75% accuracy, 92.5% sensitivity, and 94.44% specificity for the sMCI–NC comparison. The best performances obtained by the SVM classifier using the essential features were 5–40% more than those using all of the retained features. The feasibility of the cortical features for the recognition of anatomical patterns was certified; thus, the proposed method has the potential to improve the clinical diagnosis of sub-types of MCI and

Executive abilities in children with congenital visual impairment in mid-childhood.

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Bathelt, Joe; de Haan, Michelle; Salt, Alison; Dale, Naomi Jane

2018-02-01

The role of vision and vision deprivation in the development of executive function (EF) abilities in childhood is little understood; aspects of EF such as initiative, attention orienting, inhibition, planning and performance monitoring are often measured through visual tasks. Studying the development and integrity of EF abilities in children with congenital visual impairment (VI) may provide important insights into the development of EF and also its possible relationship with vision and non-visual senses. The current study investigates non-visual EF abilities in 18 school-age children of average verbal intelligence with VI of differing levels of severity arising from congenital disorders affecting the eye, retina, or anterior optic nerve. Standard auditory neuropsychological assessments of sustained and divided attention, phonemic, semantic and switching verbal fluency, verbal working memory, and ratings of everyday executive abilities by parents were undertaken. Executive skills were compared to age-matched typically-sighted (TS) typically-developing children and across levels of vision (mild to moderate VI [MVI] or severe to profound VI [SPVI]). The results do not indicate significant differences or deficits on direct assessments of verbal and auditory EF between the groups. However, parent ratings suggest difficulties with everyday executive abilities, with the greatest difficulties in those with SPVI. The findings are discussed as possibly reflecting increased demands of behavioral executive skills for children with VI in everyday situations despite auditory and verbal EF abilities in the typical range for their age. These findings have potential implications for clinical and educational practices.

Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

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Lukoshe, Akvile; Hokken-Koelega, Anita C; van der Lugt, Aad; White, Tonya

2014-01-01

Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development

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Xiaoning Chen

2015-01-01

Full Text Available Polymorphisms that alter serotonin transporter SERT expression and functionality increase the risks for autism and psychiatric traits. Here, we investigate how SERT controls serotonin signaling in developing CNS in mice. SERT is transiently expressed in specific sets of glutamatergic neurons and uptakes extrasynaptic serotonin during perinatal CNS development. We show that SERT expression in glutamatergic thalamocortical axons (TCAs dictates sensory map architecture. Knockout of SERT in TCAs causes lasting alterations in TCA patterning, spatial organizations of cortical neurons, and dendritic arborization in sensory cortex. Pharmacological reduction of serotonin synthesis during the first postnatal week rescues sensory maps in SERTGluΔ mice. Furthermore, knockdown of SERT expression in serotonin-producing neurons does not impair barrel maps. We propose that spatiotemporal SERT expression in non-serotonin-producing neurons represents a determinant in early life genetic programming of cortical circuits. Perturbing this SERT function could be involved in the origin of sensory and cognitive deficits associated with neurodevelopmental disorders.

Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development

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Ertl-Wagner, B.; Rummeny, C.; Reiser, M.F.

2003-01-01

Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [de

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism

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Rasmussen, Annett Helleskov; Melikyan, Maria; Globa, Evgenia

2017-01-01

BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high...... seen in uni- or multivariate analysis. CONCLUSION: Not only very low blood glucose, but also insufficient treatment as expressed by delay until expert center hospitalization, increased the risk of neurodevelopmental impairment. This novel finding calls for improvements in spread of knowledge about CHI...

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

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Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Prediction of Alzheimer’s disease in mild cognitive impairment using sulcal morphology and cortical thickness

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Plocharski, Maciej; Østergaard, Lasse Riis

2019-01-01

converters, or MCIc). The purpose of this study was to predict future AD-conversion in patients with MCI using machine learning with sulcal morphology and cortical thickness measures as classification features. 32 sulci per subject were extracted from 1.5T T1-weighted ADNI database MRI scans of 90 MCIc......Mild cognitive impairment (MCI) is an intermediate condition between healthy ageing and dementia. The amnestic MCI is often a high risk factor for subsequent Alzheimer’s disease (AD) conversion. Some MCI patients never develop AD (MCI non-converters, or MCInc), but some do progress to AD (MCI...... subjects as future converters, (89.7% sensitivity, 84.4% specificity, 0.94 AUC), using 10-fold cross-validation. These results using sulcal and cortical features are superior to the state-of-the-art methods. The most discriminating predictive features were observed in the temporal and frontal lobes...

Anosognosia in mild cognitive impairment: Relationship to activation of cortical midline structures involved in self-appraisal

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Ries, Michele L.; Jabbar, Britta M.; Schmitz, Taylor W.; Trivedi, Mehul A.; Gleason, Carey E.; Carlsson, Cynthia M.; Rowley, Howard A.; Asthana, Sanjay; Johnson, Sterling C.

2009-01-01

Awareness of cognitive dysfunction shown by individuals with Mild Cognitive Impairment (MCI), a condition conferring risk for Alzheimer’s disease (AD), is variable. Anosognosia, or unawareness of loss of function, is beginning to be recognized as an important clinical symptom of MCI. However, little is known about the brain substrates underlying this symptom. We hypothesized that MCI participants’ activation of cortical midline structures (CMS) during self-appraisal would covary with level of insight into cognitive difficulties (indexed by a discrepancy score between patient and informant ratings of cognitive decline in each MCI participant). To address this hypothesis, we first compared 16 MCI participants and 16 age-matched controls, examining brain regions showing conjoint or differential BOLD response during self-appraisal. Second, we used regression to investigate the relationship between awareness of deficit in MCI and BOLD activity during self-appraisal, controlling for extent of memory impairment. Between-group comparisons indicated that MCI participants show subtly attenuated CMS activity during self-appraisal. Regression analysis revealed a highly-significant relationship between BOLD response during self-appraisal and self-awareness of deficit in MCI. This finding highlights the level of anosognosia in MCI as an important predictor of response to self-appraisal in cortical midline structures, brain regions vulnerable to changes in early AD. PMID:17445294

Postnatal Ablation of Synaptic Retinoic Acid Signaling Impairs Cortical Information Processing and Sensory Discrimination in Mice.

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Park, Esther; Tjia, Michelle; Zuo, Yi; Chen, Lu

2018-06-06

Retinoic acid (RA) and its receptors (RARs) are well established essential transcriptional regulators during embryonic development. Recent findings in cultured neurons identified an independent and critical post-transcriptional role of RA and RARα in the homeostatic regulation of excitatory and inhibitory synaptic transmission in mature neurons. However, the functional relevance of synaptic RA signaling in vivo has not been established. Here, using somatosensory cortex as a model system and the RARα conditional knock-out mouse as a tool, we applied multiple genetic manipulations to delete RARα postnatally in specific populations of cortical neurons, and asked whether synaptic RA signaling observed in cultured neurons is involved in cortical information processing in vivo Indeed, conditional ablation of RARα in mice via a CaMKIIα-Cre or a layer 5-Cre driver line or via somatosensory cortex-specific viral expression of Cre-recombinase impaired whisker-dependent texture discrimination, suggesting a critical requirement of RARα expression in L5 pyramidal neurons of somatosensory cortex for normal tactile sensory processing. Transcranial two-photon imaging revealed a significant increase in dendritic spine elimination on apical dendrites of somatosensory cortical layer 5 pyramidal neurons in these mice. Interestingly, the enhancement of spine elimination is whisker experience-dependent as whisker trimming rescued the spine elimination phenotype. Additionally, experiencing an enriched environment improved texture discrimination in RARα-deficient mice and reduced excessive spine pruning. Thus, RA signaling is essential for normal experience-dependent cortical circuit remodeling and sensory processing. SIGNIFICANCE STATEMENT The importance of synaptic RA signaling has been demonstrated in in vitro studies. However, whether RA signaling mediated by RARα contributes to neural circuit functions in vivo remains largely unknown. In this study, using a RARα conditional

Decoding Visual Location From Neural Patterns in the Auditory Cortex of the Congenitally Deaf

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Almeida, Jorge; He, Dongjun; Chen, Quanjing; Mahon, Bradford Z.; Zhang, Fan; Gonçalves, Óscar F.; Fang, Fang; Bi, Yanchao

2016-01-01

Sensory cortices of individuals who are congenitally deprived of a sense can exhibit considerable plasticity and be recruited to process information from the senses that remain intact. Here, we explored whether the auditory cortex of congenitally deaf individuals represents visual field location of a stimulus—a dimension that is represented in early visual areas. We used functional MRI to measure neural activity in auditory and visual cortices of congenitally deaf and hearing humans while they observed stimuli typically used for mapping visual field preferences in visual cortex. We found that the location of a visual stimulus can be successfully decoded from the patterns of neural activity in auditory cortex of congenitally deaf but not hearing individuals. This is particularly true for locations within the horizontal plane and within peripheral vision. These data show that the representations stored within neuroplastically changed auditory cortex can align with dimensions that are typically represented in visual cortex. PMID:26423461

Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

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Akvile Lukoshe

Full Text Available BACKGROUND: Prader-Willi Syndrome (PWS is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. METHODS: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL, 12 with maternal uniparental disomy (mUPD and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI was obtained using the FreeSurfer software suite. RESULTS: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. CONCLUSIONS: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to

The sedating antidepressant trazodone impairs sleep-dependent cortical plasticity.

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Sara J Aton

2009-07-01

Full Text Available Recent findings indicate that certain classes of hypnotics that target GABA(A receptors impair sleep-dependent brain plasticity. However, the effects of hypnotics acting at monoamine receptors (e.g., the antidepressant trazodone on this process are unknown. We therefore assessed the effects of commonly-prescribed medications for the treatment of insomnia (trazodone and the non-benzodiazepine GABA(A receptor agonists zaleplon and eszopiclone in a canonical model of sleep-dependent, in vivo synaptic plasticity in the primary visual cortex (V1 known as ocular dominance plasticity.After a 6-h baseline period of sleep/wake polysomnographic recording, cats underwent 6 h of continuous waking combined with monocular deprivation (MD to trigger synaptic remodeling. Cats subsequently received an i.p. injection of either vehicle, trazodone (10 mg/kg, zaleplon (10 mg/kg, or eszopiclone (1-10 mg/kg, and were allowed an 8-h period of post-MD sleep before ocular dominance plasticity was assessed. We found that while zaleplon and eszopiclone had profound effects on sleeping cortical electroencephalographic (EEG activity, only trazodone (which did not alter EEG activity significantly impaired sleep-dependent consolidation of ocular dominance plasticity. This was associated with deficits in both the normal depression of V1 neuronal responses to deprived-eye stimulation, and potentiation of responses to non-deprived eye stimulation, which accompany ocular dominance plasticity.Taken together, our data suggest that the monoamine receptors targeted by trazodone play an important role in sleep-dependent consolidation of synaptic plasticity. They also demonstrate that changes in sleep architecture are not necessarily reliable predictors of how hypnotics affect sleep-dependent neural functions.

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

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Alorainy, Ibrahim A.

2006-01-01

More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

Murine model for congenital CMV infection and hearing impairment

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Tao Liu

2011-02-01

Full Text Available Abstract Background Congenital cytomegalovirus (CMV infection is the leading cause of sensorineural hearing loss (SNHL, and SNHL is the most frequent sequela of congenital CMV infection. But the pathogenic mechanism remains unknown, and there is no ideal CMV intrauterine infection animal model to study the mechanisms by which SNHL develops. Methods We established the congenital murine cytomegalovirus (MCMV infection model by directly injecting the virus into the placenta on day 12.5 of gestation. Then, we observed the development and the MCMV congenital infection rate of the fetuses on the day they were born. Furthermore, we detected the auditory functions, the conditions of the MCMV infection, and the histological change of the inner ears of 28-day-old and 70-day-old offspring. Results Both the fetal loss rate and the teratism rate of offspring whose placentas were inoculated with MCMV increased, and their body length, head circumference, and weight decreased. The hearing level of offspring both decreased at both 28- and 70-days post birth; the 70-day-old mice developed lower hearing levels than did the 28-day old mice. No significant inflammatory changes in the cochleae of the mice were observed. MCMV DNA signals were mainly detected in the spiral ganglion neurons and the endolymph area, but not in the perilymph area. The number of neurons decreased, and their ultrastructures changed. Moreover, with age, the number of neurons dramatically decreased, and the ultrastructural lesions of neurons became much more severe. Conclusions The results suggest that the direct injection of MCMV into the placenta may efficiently cause fetal infection and disturb the intrauterine development of the fetus, and placental inoculation itself has no obvious adverse effects on offspring. The reduction in the number of spiral ganglion neurons and the ultrastructural lesions of the neurons may be the major cause of congenital CMV infection-induced progressive SNHL.

Visuo-Spatial Imagery Impairment in Posterior Cortical Atrophy: A Cognitive and SPECT Study

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Simona Gardini

2011-01-01

Full Text Available This study investigated the cognitive profile and the cerebral perfusion pattern in a highly educated 70 year old gentleman with posterior cortical atrophy (PCA. Visuo-perceptual abilities, spatial memory, spatial representation and navigation, visuo-spatial mental imagery, semantic and episodic-autobiographical memory were assessed. Regional cerebral blood flow (rCBF was imaged with SPECT. Cognitive testing showed visual-perceptual impairment, apperceptive visual and landmark agnosia, topographical disorientation with way-finding deficits, impaired map learning and poor mental image generation. Semantic memory was normal, while episodic-autobiographical memory was impaired. Reduced rCBF was found mainly in the right hemisphere, in the precentral gyrus, posterior cingulate and middle temporal gyri, cuneus and precuneus, in the left superior temporal and lingual gyri and in the parahippocampus bilaterally. Hypoperfusion in occipito-parietal regions was associated with visuo-spatial deficits, whereas deficits in visuo-spatial mental imagery might reflect dysfunction related to hypoperfusion in the parahippocampus and precuneus, structures which are responsible for spatial and imagery processing. Dissociating performance between preserved semantic memory and poor episodic-autobiographical recall is consistent with a pattern of normal perfusion in frontal and anterior temporal regions but abnormal rCBF in the parahippocampi. The present findings indicate that PCA involves visuo-spatial imagery deficits and provide further validation to current neuro-cognitive models of spatial representation and topographical disorientation.

Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

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Li Xin; Li Minglin; Yang Zhiyong

1997-01-01

To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

Abeta(1-42) injection causes memory impairment, lowered cortical and serum BDNF levels, and decreased hippocampal 5-HT(2A) levels

DEFF Research Database (Denmark)

Christensen, R; Marcussen, Anders Bue; Wörtwein, Gitta

2008-01-01

was used to monitor Abeta(1-42) induced memory impairment. Memory impairment was seen 22 days after injection of Abeta(1-42) in the experimental group and until termination of the experiments. In the Abeta(1-42) injected animals we saw an abolished increase in serum BDNF levels that was accompanied...... by significant lower BDNF levels in frontal cortex and by an 8.5% reduction in hippocampal 5-HT(2A) receptor levels. A tendency towards lowered cortical 5-HT(2A) was also observed. These results indicate that the Abeta(1-42) associated memory deficit is associated with an impaired BDNF regulation, which...

Increased 20-HETE synthesis explains reduced cerebral blood flow but not impaired neurovascular coupling after cortical spreading depression in rat cerebral cortex

DEFF Research Database (Denmark)

Fordsmann, Jonas Christoffer; ko, Rebecca; Choi, Hyun B

2013-01-01

Cortical spreading depression (CSD) is associated with release of arachidonic acid (AA), impaired neurovascular coupling, and reduced cerebral blood flow (CBF), caused by cortical vasoconstriction. We tested the hypothesis that the released AA is metabolized by the cytochrome P450 enzyme to produce...... neurovascular coupling after CSD. These findings suggest that CSD-induced increments in 20-HETE cause the reduction in CBF after CSD, and that the attenuation of stimulation-induced CBF responses after CSD has a different mechanism. We suggest that blockade of 20-HETE synthesis may be clinically relevant...

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

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Teodora Chamova

2015-01-01

Full Text Available Congenital cataracts, facial dysmorphism, neuropathy (CCFDN syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

The genetic landscape of familial congenital hydrocephalus.

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Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

International Nuclear Information System (INIS)

Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

1990-01-01

We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

Rehabilitation of cortical blindness secondary to stroke.

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Gaber, Tarek A-Z K

2010-01-01

Cortical blindness is a rare complication of posterior circulation stroke. However, its complex presentation with sensory, physical, cognitive and behavioural impairments makes it one of the most challenging. Appropriate approach from a rehabilitation standpoint was never reported. Our study aims to discuss the rehabilitation methods and outcomes of a cohort of patients with cortical blindness. The notes of all patients with cortical blindness referred to a local NHS rehabilitation service in the last 6~years were examined. Patients' demographics, presenting symptoms, scan findings, rehabilitation programmes and outcomes were documented. Seven patients presented to our service, six of them were males. The mean age was 63. Patients 1, 2 and 3 had total blindness with severe cognitive and behavioural impairments, wandering and akathisia. All of them failed to respond to any rehabilitation effort and the focus was on damage limitation. Pharmacological interventions had a modest impact on behaviour and sleep pattern. The 3 patients were discharged to a nursing facility. Patients 4, 5, 6 and 7 had partial blindness with variable severity. All of them suffered from significant memory impairment. However, none suffered from any behavioural, physical or other cognitive impairment. Rehabilitation efforts on 3 patients were carried out collaboratively between brain injury occupational therapists and sensory disability officers. All patients experienced significant improvement in handicap and they all maintained community placements. This small cohort of patients suggests that the rehabilitation philosophy and outcomes of these 2 distinct groups of either total or partial cortical blindness differ significantly.

Are language and social communication intact in children with congenital visual impairment at school age?

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Tadić, Valerie; Pring, Linda; Dale, Naomi

2010-06-01

Development of children with congenital visual impairment (VI) has been associated with vulnerable socio-communicative outcomes often bearing striking similarities to those of sighted children with autism.(1) To date, very little is known about language and social communication in children with VI of normal intelligence. We examined the presentation of language and social communication of 15 children with VI and normal-range verbal intelligence, age 6-12 years, using a standardised language assessment and parental reports of everyday social and communicative behaviours. Their profiles were compared to those of typically developing sighted children of similar age and verbal ability. Compared to their sighted peers, and relative to their own good and potentially superior structural language skills, children with VI showed significantly poorer use of language for social purposes. Pragmatic language weaknesses were a part of a broader socio-communicative profile of difficulties, present in a substantial proportion of these children and consistent with the pattern found in sighted children with autism. There are ongoing socio-communicative and pragmatic language difficulties in children with congenital VI at school age, despite their good intellectual abilities and advanced linguistic skills. Further research is required to unpack the underlying causes and factors maintaining this vulnerability in such children.

Assessment of Cortical Visual Impairment in Infants with Periventricular Leukomalacia: a Pilot Event-Related fMRI Study

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Yu, Bing; Guo, Qiyong [Shengjing Hospital of China Medical University, Shenyang (China); Fan, Guoguang [The First Hospital of China Medical University, Shenyang (China); Liu, Na [Greater China Region of Philips, Shanghai (China)

2011-08-15

We wanted to investigate the usefulness of event-related (ER) functional MRI (fMRI) for the assessment of cortical visual impairment in infants with periventricular leukomalacia (PVL). FMRI data were collected from 24 infants who suffered from PVL and from 12 age-matched normal controls. Slow ER fMRI was performed using a 3.0T MR scanner while visual stimuli were being presented. Data analysis was performed using Statistical Parametric Mapping software (SPM2), the SPM toolbox MarsBar was used to analyze the region of interest data, and the time to peak (TTP) of hemodynamic response functions (HRFs) was estimated for the surviving voxels. The number of activated voxels and the TTP values of HRFs were compared. Pearson correlation analysis was performed to compare visual impairment evaluated by using Teller Acuity Cards (TAC) with the number of activated voxels in the occipital lobes in all patients. In all 12 control infants, the blood oxygenation level-dependent (BOLD) signal was negative and the maximum response was located in the anterior and superior part of the calcarine fissure, and this might correspond to the anterior region of the primary visual cortex (PVC). In contrast, for the 24 cases of PVL, there were no activated pixels in the PVC in four subjects, small and weak activations in six subjects, deviated activations in seven subjects and both small and deviated activations in three subjects. The number of active voxels in the occipital lobe was significantly correlated with the TAC-evaluated visual impairment (p < 0.001). The mean TTP of the HRFs was significantly delayed in the cases of PVL as compared with that of the normal controls. Determining the characteristics of both the BOLD response and the ER fMRI activation may play an important role in the cortical visual assessment of infants with PVL.

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

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Flavio Mantelli

2015-01-01

Full Text Available Neurotrophic keratitis (NK is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

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Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

2009-01-01

Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

MR imaging of fukuyama congenital muscular dystrophy; a case report

International Nuclear Information System (INIS)

Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

2000-01-01

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature

Educational achievement among long-term survivors of congenital heart defects: a Danish population-based follow-up study

DEFF Research Database (Denmark)

Olsen, Morten; Hjortdal, Vibeke E.; Mortensen, Laust Hvas

2011-01-01

Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education.......Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education....

Reorganization of motor cortex and impairment of motor performance induced by hindlimb unloading are partially reversed by cortical IGF-1 administration.

Science.gov (United States)

Mysoet, Julien; Canu, Marie-Hélène; Gillet, Christophe; Fourneau, Julie; Garnier, Cyril; Bastide, Bruno; Dupont, Erwan

2017-01-15

Immobilization, bed rest, or sedentary lifestyle, are known to induce a profound impairment in sensorimotor performance. These alterations are due to a combination of peripheral and central factors. Previous data conducted on a rat model of disuse (hindlimb unloading, HU) have shown a profound reorganization of motor cortex and an impairment of motor performance. Recently, our interest was turned towards the role of insulin-like growth factor 1 (IGF-1) in cerebral plasticity since this growth factor is considered as the mediator of beneficial effects of exercise on the central nervous system, and its cortical level is decreased after a 14-day period of HU. In the present study, we attempted to determine whether a chronic subdural administration of IGF-1 in HU rats could prevent deleterious effects of HU on the motor cortex and on motor activity. We demonstrated that HU induces a shrinkage of hindlimb cortical representation and an increase in current threshold to elicit a movement. Administration of IGF-1 in HU rats partially reversed these changes. The functional evaluation revealed that IGF-1 prevents the decrease in spontaneous activity found in HU rats and the changes in hip kinematics during overground locomotion, but had no effect of challenged locomotion (ladder rung walking test). Taken together, these data clearly indicate the implication of IGF-1 in cortical plastic mechanisms and in behavioral alteration induced by a decreased in sensorimotor activity. Copyright © 2016 Elsevier B.V. All rights reserved.

Spatial contrast sensitivity vision loss in children with cortical visual impairment.

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Good, William V; Hou, Chuan; Norcia, Anthony M

2012-11-19

Although cortical visual impairment (CVI) is the leading cause of bilateral vision impairment in children in Western countries, little is known about the effects of CVI on visual function. The aim of this study was to compare visual evoked potential measures of contrast sensitivity and grating acuity in children with CVI with those of age-matched typically developing controls. The swept parameter visual evoked potential (sVEP) was used to measure contrast sensitivity and grating acuity in 34 children with CVI at 5 months to 5 years of age and in 16 age-matched control children. Contrast thresholds and spatial frequency thresholds (grating acuities) were derived by extrapolating the tuning functions to zero amplitude. These thresholds and maximal suprathreshold response amplitudes were compared between groups. Among 34 children with CVI, 30 had measurable but reduced contrast sensitivity with a median threshold of 10.8% (range 5.0%-30.0% Michelson), and 32 had measurable but reduced grating acuity with median threshold 0.49 logMAR (9.8 c/deg, range 5-14 c/deg). These thresholds were significantly reduced, compared with age-matched control children. In addition, response amplitudes over the entire sweep range for both measures were significantly diminished in children with CVI compared with those of control children. Our results indicate that spatial contrast sensitivity and response amplitudes are strongly affected by CVI. The substantial degree of loss in contrast sensitivity suggests that contrast is a sensitive measure for evaluating vision deficits in patients with CVI.

Congenital visual pathway abnormalities : A window onto cortical stability and plasticity

NARCIS (Netherlands)

Hoffmann, Michael B.; Dumoulin, Serge O.

2015-01-01

Sensory systems project information in a highly organized manner to the brain, where it is preserved in maps of the sensory structures. These sensory projections are altered in congenital abnormalities, such as anophthalmia, albinism, achiasma, and hemihydranencephaly. Consequently, these

Impaired social interaction and enhanced sensitivity to phencyclidine-induced deficits in novel object recognition in rats with cortical cholinergic denervation.

Science.gov (United States)

Savage, S; Kehr, J; Olson, L; Mattsson, A

2011-11-10

Dysregulated cholinergic neurotransmission has been implicated in the pathophysiology of schizophrenia, particularly negative symptoms and cognitive deficits. The aim of the present study was to evaluate the role of neocortical cholinergic innervation and of the N-methyl-d-aspartate (NMDA) receptor antagonist phencyclidine (PCP) on social interaction and novel object recognition (NOR), a declarative memory task. The cholinergic corticopetal projection was lesioned by local infusion of the immunotoxin 192 IgG-saporin into nucleus basalis magnocellularis of adult male Lister hooded rats. Behavior was assessed 2.5 weeks later in a social interaction paradigm followed by the NOR task. We found that selective cholinergic denervation of neocortex led to a significant reduction in duration of social interaction, specifically active social interaction. Acute administration of PCP (1.0 mg/kg, s.c.) caused a marked decrease of active social interaction, such that there was no longer a difference between intact and denervated animals. Neither cholinergic denervation alone, nor PCP (1.0 mg/kg, s.c.) alone blocked the ability of rats to recognize a novel object. However, when animals lacking cortical cholinergic innervation were challenged by PCP, they were no longer able to recognize a novel object. This study indicates that rats lacking cholinergic innervation of neocortex have impaired social interaction and specifically that the duration of active contact is shortened. Animals with severe cortical cholinergic hypofunction maintain the ability to perform in a declarative memory test, although the task is carried out less intensively. However, a provocation of psychosis-like behavior by a dose of PCP that does not by itself impair performance in normal animals, will abolish the ability to recognize novel objects in animals lacking cortical cholinergic innervation. The present findings support a possible role for cortical cholinergic hypofunction in the negative and cognitive

Gray matter trophism, cognitive impairment, and depression in patients with multiple sclerosis.

Science.gov (United States)

Pravatà, Emanuele; Rocca, Maria A; Valsasina, Paola; Riccitelli, Gianna C; Gobbi, Claudio; Comi, Giancarlo; Falini, Andrea; Filippi, Massimo

2017-12-01

Cognitive impairment and depression frequently affects patients with multiple sclerosis (MS). However, the relationship between the occurrence of depression and cognitive impairment and the development of cortical atrophy has not been fully elucidated yet. To investigate the association of cortical and deep gray matter (GM) volume with depression and cognitive impairment in MS. Three-dimensional (3D) T1-weighted scans were obtained from 126 MS patients and 59 matched healthy controls. Cognitive impairment was assessed using the Brief Repeatable Battery of Neuropsychological Tests and depression with the Montgomery-Asberg Depression Rating Scale (MADRS). Using FreeSurfer and FIRST software, we assessed cortical thickness (CTh) and deep GM volumetry. Magnetic resonance imaging (MRI) variables explaining depression and cognitive impairment were investigated using factorial and classification analysis. Multivariate regression models correlated GM abnormalities with symptoms severity. Compared with controls, MS patients exhibited widespread bilateral cortical thinning involving all brain lobes. Depressed MS showed selective CTh decrease in fronto-temporal regions, whereas cognitive impairment MS exhibited widespread fronto-parietal cortical and subcortical GM atrophy. Frontal cortical thinning was the best predictor of depression ( C-statistic = 0.7), whereas thinning of the right precuneus and high T2 lesion volume best predicted cognitive impairment ( C-statistic = 0.8). MADRS severity correlated with right entorhinal cortex thinning, whereas cognitive impairment severity correlated with left entorhinal and thalamus atrophy. MS-related depression is linked to circumscribed CTh changes in areas deputed to emotional behavior, whereas cognitive impairment is correlated with cortical and subcortical GM atrophy of circuits involved in cognition.

Enhanced limbic/impaired cortical-loop connection onto the hippocampus of NHE rats: Application of resting-state functional connectivity in a preclinical ADHD model.

Science.gov (United States)

Zoratto, F; Palombelli, G M; Ruocco, L A; Carboni, E; Laviola, G; Sadile, A G; Adriani, W; Canese, R

2017-08-30

Due to a hyperfunctioning mesocorticolimbic system, Naples-High-Excitability (NHE) rats have been proposed to model for the meso-cortical variant of attention deficit/hyperactivity disorder (ADHD). Compared to Naples Random-Bred (NRB) controls, NHE rats show hyperactivity, impaired non-selective attention (Aspide et al., 1998), and impaired selective spatial attention (Ruocco et al., 2009a, 2014). Alteration in limbic functions has been proposed; however, resulting unbalance among forebrain areas has not been assessed yet. By resting-state functional Magnetic-Resonance Imaging (fMRI) in vivo, we investigated the connectivity of neuronal networks belonging to limbic vs. cortical loops in NHE and NRB rats (n=10 each). Notably, resting-state fMRI was applied using a multi-slice sagittal, gradient-echo sequence. Voxel-wise connectivity maps at rest, based on temporal correlation among fMRI time-series, were computed by seeding the hippocampus (Hip), nucleus accumbens (NAcc), dorsal striatum (dStr), amygdala (Amy) and dorsal/medial prefrontal cortex (PFC), both hemispheres. To summarize patterns of altered connection, clearly directional connectivity was evident within the cortical loop: bilaterally and specularly, from orbital and dorsal PFCs through dStr and hence towards Hip. Such network communication was reduced in NHE rats (also, with less mesencephalic/pontine innervation). Conversely, enhanced network activity emerged within the limbic loop of NHE rats: from left PFC, both through the NAcc and directly, to the Hip (all of which received greater ventral tegmental innervation, likely dopamine). Together with tuned-down cortical loop, this potentiated limbic loop may serve a major role in controlling ADHD-like behavioral symptoms in NHE rats. Copyright © 2017 Elsevier B.V. All rights reserved.

Impaired encoding of rapid pitch information underlies perception and memory deficits in congenital amusia.

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Albouy, Philippe; Cousineau, Marion; Caclin, Anne; Tillmann, Barbara; Peretz, Isabelle

2016-01-06

Recent theories suggest that the basis of neurodevelopmental auditory disorders such as dyslexia or specific language impairment might be a low-level sensory dysfunction. In the present study we test this hypothesis in congenital amusia, a neurodevelopmental disorder characterized by severe deficits in the processing of pitch-based material. We manipulated the temporal characteristics of auditory stimuli and investigated the influence of the time given to encode pitch information on participants' performance in discrimination and short-term memory. Our results show that amusics' performance in such tasks scales with the duration available to encode acoustic information. This suggests that in auditory neuro-developmental disorders, abnormalities in early steps of the auditory processing can underlie the high-level deficits (here musical disabilities). Observing that the slowing down of temporal dynamics improves amusics' pitch abilities allows considering this approach as a potential tool for remediation in developmental auditory disorders.

Cortical thickness abnormalities in late adolescence with online gaming addiction.

Science.gov (United States)

Yuan, Kai; Cheng, Ping; Dong, Tao; Bi, Yanzhi; Xing, Lihong; Yu, Dahua; Zhao, Limei; Dong, Minghao; von Deneen, Karen M; Liu, Yijun; Qin, Wei; Tian, Jie

2013-01-01

Online gaming addiction, as the most popular subtype of Internet addiction, had gained more and more attention from the whole world. However, the structural differences in cortical thickness of the brain between adolescents with online gaming addiction and healthy controls are not well unknown; neither was its association with the impaired cognitive control ability. High-resolution magnetic resonance imaging scans from late adolescence with online gaming addiction (n = 18) and age-, education- and gender-matched controls (n = 18) were acquired. The cortical thickness measurement method was employed to investigate alterations of cortical thickness in individuals with online gaming addiction. The color-word Stroop task was employed to investigate the functional implications of the cortical thickness abnormalities. Imaging data revealed increased cortical thickness in the left precentral cortex, precuneus, middle frontal cortex, inferior temporal and middle temporal cortices in late adolescence with online gaming addiction; meanwhile, the cortical thicknesses of the left lateral orbitofrontal cortex (OFC), insula, lingual gyrus, the right postcentral gyrus, entorhinal cortex and inferior parietal cortex were decreased. Correlation analysis demonstrated that the cortical thicknesses of the left precentral cortex, precuneus and lingual gyrus correlated with duration of online gaming addiction and the cortical thickness of the OFC correlated with the impaired task performance during the color-word Stroop task in adolescents with online gaming addiction. The findings in the current study suggested that the cortical thickness abnormalities of these regions may be implicated in the underlying pathophysiology of online gaming addiction.

Postmortem Findings for 7 Neonates with Congenital Zika Virus Infection.

Science.gov (United States)

Sousa, Anastácio Q; Cavalcante, Diane I M; Franco, Luciano M; Araújo, Fernanda M C; Sousa, Emília T; Valença-Junior, José Telmo; Rolim, Dionne B; Melo, Maria E L; Sindeaux, Pedro D T; Araújo, Marialva T F; Pearson, Richard D; Wilson, Mary E; Pompeu, Margarida M L

2017-07-01

Postmortem examination of 7 neonates with congenital Zika virus infection in Brazil revealed microcephaly, ventriculomegaly, dystrophic calcifications, and severe cortical neuronal depletion in all and arthrogryposis in 6. Other findings were leptomeningeal and brain parenchymal inflammation and pulmonary hypoplasia and lymphocytic infiltration in liver and lungs. Findings confirmed virus neurotropism and multiple organ infection.

Hearing after congenital deafness: central auditory plasticity and sensory deprivation.

Science.gov (United States)

Kral, A; Hartmann, R; Tillein, J; Heid, S; Klinke, R

2002-08-01

The congenitally deaf cat suffers from a degeneration of the inner ear. The organ of Corti bears no hair cells, yet the auditory afferents are preserved. Since these animals have no auditory experience, they were used as a model for congenital deafness. Kittens were equipped with a cochlear implant at different ages and electro-stimulated over a period of 2.0-5.5 months using a monopolar single-channel compressed analogue stimulation strategy (VIENNA-type signal processor). Following a period of auditory experience, we investigated cortical field potentials in response to electrical biphasic pulses applied by means of the cochlear implant. In comparison to naive unstimulated deaf cats and normal hearing cats, the chronically stimulated animals showed larger cortical regions producing middle-latency responses at or above 300 microV amplitude at the contralateral as well as the ipsilateral auditory cortex. The cortex ipsilateral to the chronically stimulated ear did not show any signs of reduced responsiveness when stimulating the 'untrained' ear through a second cochlear implant inserted in the final experiment. With comparable duration of auditory training, the activated cortical area was substantially smaller if implantation had been performed at an older age of 5-6 months. The data emphasize that young sensory systems in cats have a higher capacity for plasticity than older ones and that there is a sensitive period for the cat's auditory system.

Prosthetic management of congenital anophthalmia-microphthalmia patient

Directory of Open Access Journals (Sweden)

Himanshi Aggarwal

2015-01-01

Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

Audio-Tactile Integration in Congenitally and Late Deaf Cochlear Implant Users

Science.gov (United States)

Nava, Elena; Bottari, Davide; Villwock, Agnes; Fengler, Ineke; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

2014-01-01

Several studies conducted in mammals and humans have shown that multisensory processing may be impaired following congenital sensory loss and in particular if no experience is achieved within specific early developmental time windows known as sensitive periods. In this study we investigated whether basic multisensory abilities are impaired in hearing-restored individuals with deafness acquired at different stages of development. To this aim, we tested congenitally and late deaf cochlear implant (CI) recipients, age-matched with two groups of hearing controls, on an audio-tactile redundancy paradigm, in which reaction times to unimodal and crossmodal redundant signals were measured. Our results showed that both congenitally and late deaf CI recipients were able to integrate audio-tactile stimuli, suggesting that congenital and acquired deafness does not prevent the development and recovery of basic multisensory processing. However, we found that congenitally deaf CI recipients had a lower multisensory gain compared to their matched controls, which may be explained by their faster responses to tactile stimuli. We discuss this finding in the context of reorganisation of the sensory systems following sensory loss and the possibility that these changes cannot be “rewired” through auditory reafferentation. PMID:24918766

Audio-tactile integration in congenitally and late deaf cochlear implant users.

Directory of Open Access Journals (Sweden)

Elena Nava

Full Text Available Several studies conducted in mammals and humans have shown that multisensory processing may be impaired following congenital sensory loss and in particular if no experience is achieved within specific early developmental time windows known as sensitive periods. In this study we investigated whether basic multisensory abilities are impaired in hearing-restored individuals with deafness acquired at different stages of development. To this aim, we tested congenitally and late deaf cochlear implant (CI recipients, age-matched with two groups of hearing controls, on an audio-tactile redundancy paradigm, in which reaction times to unimodal and crossmodal redundant signals were measured. Our results showed that both congenitally and late deaf CI recipients were able to integrate audio-tactile stimuli, suggesting that congenital and acquired deafness does not prevent the development and recovery of basic multisensory processing. However, we found that congenitally deaf CI recipients had a lower multisensory gain compared to their matched controls, which may be explained by their faster responses to tactile stimuli. We discuss this finding in the context of reorganisation of the sensory systems following sensory loss and the possibility that these changes cannot be "rewired" through auditory reafferentation.

Congenital Deafness Reduces, But Does Not Eliminate Auditory Responsiveness in Cat Extrastriate Visual Cortex.

Science.gov (United States)

Land, Rüdiger; Radecke, Jan-Ole; Kral, Andrej

2018-04-01

Congenital deafness not only affects the development of the auditory cortex, but also the interrelation between the visual and auditory system. For example, congenital deafness leads to visual modulation of the deaf auditory cortex in the form of cross-modal plasticity. Here we asked, whether congenital deafness additionally affects auditory modulation in the visual cortex. We demonstrate that auditory activity, which is normally present in the lateral suprasylvian visual areas in normal hearing cats, can also be elicited by electrical activation of the auditory system with cochlear implants. We then show that in adult congenitally deaf cats auditory activity in this region was reduced when tested with cochlear implant stimulation. However, the change in this area was small and auditory activity was not completely abolished despite years of congenital deafness. The results document that congenital deafness leads not only to changes in the auditory cortex but also affects auditory modulation of visual areas. However, the results further show a persistence of fundamental cortical sensory functional organization despite congenital deafness. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Deprivation amblyopia and congenital hereditary cataract.

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Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

2013-01-01

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

Cortical thickness abnormalities in late adolescence with online gaming addiction.

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Kai Yuan

Full Text Available Online gaming addiction, as the most popular subtype of Internet addiction, had gained more and more attention from the whole world. However, the structural differences in cortical thickness of the brain between adolescents with online gaming addiction and healthy controls are not well unknown; neither was its association with the impaired cognitive control ability. High-resolution magnetic resonance imaging scans from late adolescence with online gaming addiction (n = 18 and age-, education- and gender-matched controls (n = 18 were acquired. The cortical thickness measurement method was employed to investigate alterations of cortical thickness in individuals with online gaming addiction. The color-word Stroop task was employed to investigate the functional implications of the cortical thickness abnormalities. Imaging data revealed increased cortical thickness in the left precentral cortex, precuneus, middle frontal cortex, inferior temporal and middle temporal cortices in late adolescence with online gaming addiction; meanwhile, the cortical thicknesses of the left lateral orbitofrontal cortex (OFC, insula, lingual gyrus, the right postcentral gyrus, entorhinal cortex and inferior parietal cortex were decreased. Correlation analysis demonstrated that the cortical thicknesses of the left precentral cortex, precuneus and lingual gyrus correlated with duration of online gaming addiction and the cortical thickness of the OFC correlated with the impaired task performance during the color-word Stroop task in adolescents with online gaming addiction. The findings in the current study suggested that the cortical thickness abnormalities of these regions may be implicated in the underlying pathophysiology of online gaming addiction.

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

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Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

2018-03-01

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Brain lesions in congenital nystagmus as detected by computed tomography

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Lo, Chin-Ying

1982-01-01

Computed tomography (CT) was performed in a series of 60 cases with congenital nystagmus. The type of nystagmus was pendular in 20 and jerky in 40 cases. The age ranged from 3 months to 13 years. Abnormal CT findings of the central nervous system were detected in 31 cases (52%). There were 5 major CT findings: midline anomalies, cortical atrophy, ventricular dilatation, brain stem atrophy and low density area. The midline anomalies involved cavum septi pellucidi, cavum Vergae, cavum veli interpositi and partial agenesis of corpus callosum. The abnormal CT findings were more prominent in pendular type than in jerky type. The incidence of congenital nystagmus and positive CT findings were the same in the first and the second birth. There was a history of abnormalities during the prenatal or perinatal period in 28 out of the 60 cases (47%). This feature seemed to play a significant role in the occurrence of congenital nystagmus. The observed organic lesions in the central nervous system by CT would contribute to the elucidation of pathomechanism of congenital nystagmus. (author)

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.

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Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2014-07-01

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Decreased prefrontal cortical dopamine transmission in alcoholism.

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Narendran, Rajesh; Mason, Neale Scott; Paris, Jennifer; Himes, Michael L; Douaihy, Antoine B; Frankle, W Gordon

2014-08-01

Basic studies have demonstrated that optimal levels of prefrontal cortical dopamine are critical to various executive functions such as working memory, attention, inhibitory control, and risk/reward decisions, all of which are impaired in addictive disorders such as alcoholism. Based on this and imaging studies of alcoholism that have demonstrated less dopamine in the striatum, the authors hypothesized decreased dopamine transmission in the prefrontal cortex in persons with alcohol dependence. To test this hypothesis, amphetamine and [11C]FLB 457 positron emission tomography were used to measure cortical dopamine transmission in 21 recently abstinent persons with alcohol dependence and 21 matched healthy comparison subjects. [11C]FLB 457 binding potential, specific compared to nondisplaceable uptake (BPND), was measured in subjects with kinetic analysis using the arterial input function both before and after 0.5 mg kg-1 of d-amphetamine. Amphetamine-induced displacement of [11C]FLB 457 binding potential (ΔBPND) was significantly smaller in the cortical regions in the alcohol-dependent group compared with the healthy comparison group. Cortical regions that demonstrated lower dopamine transmission in the alcohol-dependent group included the dorsolateral prefrontal cortex, medial prefrontal cortex, orbital frontal cortex, temporal cortex, and medial temporal lobe. The results of this study, for the first time, unambiguously demonstrate decreased dopamine transmission in the cortex in alcoholism. Further research is necessary to understand the clinical relevance of decreased cortical dopamine as to whether it is related to impaired executive function, relapse, and outcome in alcoholism.

Deficits of congenital amusia beyond pitch: Evidence from impaired categorical perception of vowels in Cantonese-speaking congenital amusics.

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Caicai Zhang

Full Text Available Congenital amusia is a lifelong disorder of fine-grained pitch processing in music and speech. However, it remains unclear whether amusia is a pitch-specific deficit, or whether it affects frequency/spectral processing more broadly, such as the perception of formant frequency in vowels, apart from pitch. In this study, in order to illuminate the scope of the deficits, we compared the performance of 15 Cantonese-speaking amusics and 15 matched controls on the categorical perception of sound continua in four stimulus contexts: lexical tone, pure tone, vowel, and voice onset time (VOT. Whereas lexical tone, pure tone and vowel continua rely on frequency/spectral processing, the VOT continuum depends on duration/temporal processing. We found that the amusic participants performed similarly to controls in all stimulus contexts in the identification, in terms of the across-category boundary location and boundary width. However, the amusic participants performed systematically worse than controls in discriminating stimuli in those three contexts that depended on frequency/spectral processing (lexical tone, pure tone and vowel, whereas they performed normally when discriminating duration differences (VOT. These findings suggest that the deficit of amusia is probably not pitch specific, but affects frequency/spectral processing more broadly. Furthermore, there appeared to be differences in the impairment of frequency/spectral discrimination in speech and nonspeech contexts. The amusic participants exhibited less benefit in between-category discriminations than controls in speech contexts (lexical tone and vowel, suggesting reduced categorical perception; on the other hand, they performed inferiorly compared to controls across the board regardless of between- and within-category discriminations in nonspeech contexts (pure tone, suggesting impaired general auditory processing. These differences imply that the frequency/spectral-processing deficit might be

Deficits of congenital amusia beyond pitch: Evidence from impaired categorical perception of vowels in Cantonese-speaking congenital amusics.

Science.gov (United States)

Zhang, Caicai; Shao, Jing; Huang, Xunan

2017-01-01

Congenital amusia is a lifelong disorder of fine-grained pitch processing in music and speech. However, it remains unclear whether amusia is a pitch-specific deficit, or whether it affects frequency/spectral processing more broadly, such as the perception of formant frequency in vowels, apart from pitch. In this study, in order to illuminate the scope of the deficits, we compared the performance of 15 Cantonese-speaking amusics and 15 matched controls on the categorical perception of sound continua in four stimulus contexts: lexical tone, pure tone, vowel, and voice onset time (VOT). Whereas lexical tone, pure tone and vowel continua rely on frequency/spectral processing, the VOT continuum depends on duration/temporal processing. We found that the amusic participants performed similarly to controls in all stimulus contexts in the identification, in terms of the across-category boundary location and boundary width. However, the amusic participants performed systematically worse than controls in discriminating stimuli in those three contexts that depended on frequency/spectral processing (lexical tone, pure tone and vowel), whereas they performed normally when discriminating duration differences (VOT). These findings suggest that the deficit of amusia is probably not pitch specific, but affects frequency/spectral processing more broadly. Furthermore, there appeared to be differences in the impairment of frequency/spectral discrimination in speech and nonspeech contexts. The amusic participants exhibited less benefit in between-category discriminations than controls in speech contexts (lexical tone and vowel), suggesting reduced categorical perception; on the other hand, they performed inferiorly compared to controls across the board regardless of between- and within-category discriminations in nonspeech contexts (pure tone), suggesting impaired general auditory processing. These differences imply that the frequency/spectral-processing deficit might be manifested

Impaired decision-making and selective cortical frontal thinning in Cushing's syndrome.

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Crespo, Iris; Esther, Granell-Moreno; Santos, Alicia; Valassi, Elena; Yolanda, Vives-Gilabert; De Juan-Delago, Manel; Webb, Susan M; Gómez-Ansón, Beatriz; Resmini, Eugenia

2014-12-01

Cushing's syndrome (CS) is caused by a glucocorticoid excess. This hypercortisolism can damage the prefrontal cortex, known to be important in decision-making. Our aim was to evaluate decision-making in CS and to explore cortical thickness. Thirty-five patients with CS (27 cured, eight medically treated) and thirty-five matched controls were evaluated using Iowa gambling task (IGT) and 3 Tesla magnetic resonance imaging (MRI) to assess cortical thickness. The IGT evaluates decision-making, including strategy and learning during the test. Cortical thickness was determined on MRI using freesurfer software tools, including a whole-brain analysis. There were no differences between medically treated and cured CS patients. They presented an altered decision-making strategy compared to controls, choosing a lower number of the safer cards (P behaviour was driven by short-term reward and long-term punishment, indicating learning problems because they did not use previous experience as a feedback factor to regulate their choices. These alterations in decision-making and the decreased cortical thickness in frontal areas suggest that chronic hypercortisolism promotes brain changes which are not completely reversible after endocrine remission. © 2014 John Wiley & Sons Ltd.

High Insulin Levels in KK-Ay Diabetic Mice Cause Increased Cortical Bone Mass and Impaired Trabecular Micro-Structure

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Cen Fu

2015-04-01

Full Text Available Type 2 diabetes mellitus (T2DM is a chronic disease characterized by hyperglycemia, hyperinsulinemia and complications, including obesity and osteoporosis. Rodents have been widely used to model human T2DM and investigate its effect on the skeleton. We aimed to investigate skeletal alterations in Yellow Kuo Kondo (KK-Ay diabetic mice displaying high insulin and glucose levels. Bone mineral density (BMD, micro-architecture and bone metabolism-related genes were analyzed. The total femoral areal BMD (aBMD, cortical volumetric BMD (vBMD and thickness were significantly increased in KK-Ay mice, while the trabecular vBMD and mineralized bone volume/tissue volume (BV/TV, trabecular thickness and number were decreased compared to C57BL mice. The expression of both osteoblast-related genes, such as osteocalcin (OC, bone sialoprotein, Type I Collagen, osteonectin, RUNX2 and OSX, and osteoclast-related genes, such as TRAP and TCIRG, were up-regulated in KK-Ay mice. Correlation analyses showed that serum insulin levels were positively associated with aBMD, cortical vBMD and thickness and negatively associated with trabecular vBMD and micro-architecture. In addition, serum insulin levels were positively related to osteoblast-related and osteoclast-related gene expression. Our data suggest that high insulin levels in KK-Ay diabetic mice may increase cortical bone mass and impair trabecular micro-structure by up-regulating osteoblast-and osteoclast-related gene expression.

Congenital Cytomegalovirus Infection: Child Development, Quality of Life and Impact on Daily Life.

NARCIS (Netherlands)

Korndewal, Marjolein J; Oudesluys-Murphy, Anne Marie; Kroes, Aloys C M; Vossen, Ann C T M; de Melker, Hester E

2017-01-01

Congenital cytomegalovirus (cCMV) infection is the most common congenital infection worldwide and can lead to long-term impairments such as developmental delay. It is currently unknown how this affects the daily life of children and their parents. Children For this study, children with cCMV were

SPECT in patients with cortical visual loss.

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Silverman, I E; Galetta, S L; Gray, L G; Moster, M; Atlas, S W; Maurer, A H; Alavi, A

1993-09-01

Single-photon emission computed tomography (SPECT) with 99mTc-hexamethylpropyleneamine oxime (HMPAO) was used to investigate changes in cerebral blood flow in seven patients with cortical visual impairment. Traumatic brain injury (TBI) was the cause of cortical damage in two patients, cerebral ischemia in two patients and carbon monoxide (CO) poisoning, status epilepticus and Alzheimer's Disease (AD) each in three separate patients. The SPECT scans of the seven patients were compared to T2-weighted magnetic resonance image (MRI) scans of the brain to determine the correlation between functional and anatomical findings. In six of the seven patients, the qualitative interpretation of the SPECT studies supported the clinical findings (i.e., the visual field defect) by revealing altered regional cerebral blood flow (rCBF) in the appropriate regions of the visual pathway. MR scans in all of the patients, on the other hand, were either normal or disclosed smaller lesions than those detected by SPECT. We conclude that SPECT may reveal altered rCBF in patients with cortical visual impairment of various etiologies, even when MRI studies are normal or nondiagnostic.

Reduced Discrimination in the Tritanopic Confusion Line for Congenital Color Deficiency Adults.

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Costa, Marcelo F; Goulart, Paulo R K; Barboni, Mirella T S; Ventura, Dora F

2016-01-01

In congenital color blindness the red-green discrimination is impaired resulting in an increased confusion between those colors with yellow. Our post-receptoral physiological mechanisms are organized in two pathways for color perception, a red-green (protanopic and deuteranopic) and a blue-yellow (tritanopic). We argue that the discrimination losses in the yellow area in congenital color vision deficiency subjects could generate a subtle loss of discriminability in the tritanopic channel considering discrepancies with yellow perception. We measured color discrimination thresholds for blue and yellow of tritanopic channel in congenital color deficiency subjects. Chromaticity thresholds were measured around a white background (0.1977 u', 0.4689 v' in the CIE 1976) consisting of a blue-white and white-yellow thresholds in a tritanopic color confusion line of 21 congenital colorblindness subjects (mean age = 27.7; SD = 5.6 years; 14 deuteranomalous and 7 protanomalous) and of 82 (mean age = 25.1; SD = 3.7 years) normal color vision subjects. Significant increase in the whole tritanopic axis was found for both deuteranomalous and protanomalous subjects compared to controls for the blue-white (F 2,100 = 18.80; p color confusion axis is significantly reduced in congenital color vision deficiency compared to normal subjects. Since yellow discrimination was impaired the balance of the blue-yellow channels is impaired justifying the increased thresholds found for blue-white discrimination. The weighting toward the yellow region of the color space with the deuteranomalous contributing to that perceptual distortion is discussed in terms of physiological mechanisms.

[Congenital intestinal lymphangiectasia].

Science.gov (United States)

Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

2011-03-01

Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

Cortical areas involved in Arabic number reading.

Science.gov (United States)

Roux, F-E; Lubrano, V; Lauwers-Cances, V; Giussani, C; Démonet, J-F

2008-01-15

Distinct functional pathways for processing words and numbers have been hypothesized from the observation of dissociated impairments of these categories in brain-damaged patients. We aimed to identify the cortical areas involved in Arabic number reading process in patients operated on for various brain lesions. Direct cortical electrostimulation was prospectively used in 60 brain mappings. We used object naming and two reading tasks: alphabetic script (sentences and number words) and Arabic number reading. Cortical areas involved in Arabic number reading were identified according to location, type of interference, and distinctness from areas associated with other language tasks. Arabic number reading was sustained by small cortical areas, often extremely well localized (area (Brodmann area 45), the anterior part of the dominant supramarginal gyrus (Brodmann area 40; p area (Brodmann area 37; p areas.

Abnormal cortical development after premature birth shown by altered allometric scaling of brain growth.

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Olga Kapellou

2006-08-01

Full Text Available We postulated that during ontogenesis cortical surface area and cerebral volume are related by a scaling law whose exponent gives a quantitative measure of cortical development. We used this approach to investigate the hypothesis that premature termination of the intrauterine environment by preterm birth reduces cortical development in a dose-dependent manner, providing a neural substrate for functional impairment.We analyzed 274 magnetic resonance images that recorded brain growth from 23 to 48 wk of gestation in 113 extremely preterm infants born at 22 to 29 wk of gestation, 63 of whom underwent neurodevelopmental assessment at a median age of 2 y. Cortical surface area was related to cerebral volume by a scaling law with an exponent of 1.29 (95% confidence interval, 1.25-1.33, which was proportional to later neurodevelopmental impairment. Increasing prematurity and male gender were associated with a lower scaling exponent (p < 0.0001 independent of intrauterine or postnatal somatic growth.Human brain growth obeys an allometric scaling relation that is disrupted by preterm birth in a dose-dependent, sexually dimorphic fashion that directly parallels the incidence of neurodevelopmental impairments in preterm infants. This result focuses attention on brain growth and cortical development during the weeks following preterm delivery as a neural substrate for neurodevelopmental impairment after premature delivery.

Sexual functioning is impaired in adults with congenital heart disease

NARCIS (Netherlands)

P. Opic (Petra); J.W. Roos-Hesselink (Jolien); J.A.A.E. Cuypers (Judith); M. Witsenburg (Maarten); A.E. van den Bosch (Annemien); R.T. van Domburg (Ron); A.J.J.C. Bogers (Ad); E.M.W.J. Utens (Elisabeth)

2013-01-01

textabstractBackground: To investigate the overall sexual functioning and disease specific sexual problems in congenital heart disease (ConHD) patients, for both genders and different cardiac diagnostic groups, and compare these with Dutch normative data. Also disease specific sexual problems were

Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment.

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Shimizu, Yoshio; Kamoda, Tomohiro; Nagata, Michio; Yoh, Keigyo; Hashimoto, Yuko; Matsui, Akira; Yoshikawa, Hiroyuki; Yamagata, Kunihiro; Koyama, Akio

2009-01-01

We report a successful case of pregnancy in a female patient with congenital chloride diarrhea (CLD) and reduced renal function due to interruption of treatment. CLD is an autosomal recessive disorder of intestinal electrolyte absorption caused by mutations in the solute carrier family 26, member 3 (SLC26A3) gene, and continuous production of watery diarrhea induces dehydration, metabolic alkalosis and many kinds of electrolyte disturbances in CLD patients. The patient in our case was a 24-year-old female CLD patient with moderate renal impairment; a renal biopsy specimen showed minimal glomerular changes, but tubulointerstitial damage by crystal formation, consistent with renal function data. One year after our initial examination and reinstitution of therapy, the patient got married and soon conceived. There were no major problems during the course of pregnancy, and the patient successfully delivered a healthy full-term infant vaginally. The symptoms and clinical course of the patient were particularly mild, and we discuss possible reasons for these observations from a perspective of genotype, phenotype and environmental conditions.

[Visual impairment and blindness in children in a Malawian school for the blind].

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Schulze Schwering, M; Nyrenda, M; Spitzer, M S; Kalua, K

2013-08-01

The aim of this study was to determine the anatomic sites of severe visual impairment and blindness in children in an integrated school for the blind in Malawi, and to compare the results with those of previous Malawian blind school studies. Children attending an integrated school for the blind in Malawi were examined in September 2011 using the standard WHO/PBL eye examination record for children with blindness and low vision. Visual acuity [VA] of the better eye was classified using the standardised WHO reporting form. Fifty-five pupils aged 6 to 19 years were examined, 39 (71 %) males, and 16 (29 %) females. Thirty eight (69%) were blind [BL], 8 (15 %) were severely visually impaired [SVI], 8 (15 %) visually impaired [VI], and 1 (1.8 %) was not visually impaired [NVI]. The major anatomic sites of visual loss were optic nerve (16 %) and retina (16 %), followed by lens/cataract (15 %), cornea (11 %) and lesions of the whole globe (11 %), uveal pathologies (6 %) and cortical blindness (2 %). The exact aetiology of VI or BL could not be determined in most children. Albinism accounted for 13 % (7/55) of the visual impairments. 24 % of the cases were considered to be potentially avoidable: refractive amblyopia among pseudophakic patients and corneal scaring. Optic atrophy, retinal diseases (mostly albinism) and cataracts were the major causes of severe visual impairment and blindness in children in an integrated school for the blind in Malawi. Corneal scarring was now the fourth cause of visual impairment, compared to being the commonest cause 35 years ago. Congenital cataract and its postoperative outcome were the commonest remedial causes of visual impairment. Georg Thieme Verlag KG Stuttgart · New York.

Sexual functioning is impaired in adults with congenital heart disease

NARCIS (Netherlands)

Opić, Petra; Roos-Hesselink, Jolien W.; Cuypers, Judith A. A. C.; Witsenburg, Maarten; van den Bosch, Annemien; van Domburg, Ron T.; Bogers, Ad J. J. C.; Utens, Elisabeth M. W. J.

2013-01-01

To investigate the overall sexual functioning and disease specific sexual problems in congenital heart disease (ConHD) patients, for both genders and different cardiac diagnostic groups, and compare these with Dutch normative data. Also disease specific sexual problems were investigated. From a

Multimodal surface-based morphometry reveals diffuse cortical atrophy in traumatic brain injury.

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Sorenson Donna J

2009-12-01

Full Text Available Abstract Background Patients with traumatic brain injury (TBI often present with significant cognitive deficits without corresponding evidence of cortical damage on neuroradiological examinations. One explanation for this puzzling observation is that the diffuse cortical abnormalities that characterize TBI are difficult to detect with standard imaging procedures. Here we investigated a patient with severe TBI-related cognitive impairments whose scan was interpreted as normal by a board-certified radiologist in order to determine if quantitative neuroimaging could detect cortical abnormalities not evident with standard neuroimaging procedures. Methods Cortical abnormalities were quantified using multimodal surfaced-based morphometry (MSBM that statistically combined information from high-resolution structural MRI and diffusion tensor imaging (DTI. Normal values of cortical anatomy and cortical and pericortical DTI properties were quantified in a population of 43 healthy control subjects. Corresponding measures from the patient were obtained in two independent imaging sessions. These data were quantified using both the average values for each lobe and the measurements from each point on the cortical surface. The results were statistically analyzed as z-scores from the mean with a p Results The TBI patient showed significant regional abnormalities in cortical thickness, gray matter diffusivity and pericortical white matter integrity that replicated across imaging sessions. Consistent with the patient's impaired performance on neuropsychological tests of executive function, cortical abnormalities were most pronounced in the frontal lobes. Conclusions MSBM is a promising tool for detecting subtle cortical abnormalities with high sensitivity and selectivity. MSBM may be particularly useful in evaluating cortical structure in TBI and other neurological conditions that produce diffuse abnormalities in both cortical structure and tissue properties.

Congenital intestinal lymphangiectasia

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Popović Dušan Đ.

2011-01-01

Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

An unusual CXT presentation of congenital cerebral toxoplasmosis in an 8 month-old boy with AIDS

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Taccone, A.; Fondelli, M.P.; Marzoli, A. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Diagnostic Radiology); Ferrea, G. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Infectious Diseases)

1992-04-01

We report on a 8-month-old boy with AIDS, born of an asymptomatic mother with positive HTLV-III serology. He was hospitalized in the Intensive Care Unit because of anemia, fever and hepatosplenomegaly. Chest X-ray showed pneumonia and subsquent blood cultures were positive for Candida albicans. After 3 days of Amphotericine B treatment, the patient was transferred to Infectious Disease Department. After 30 days of hospitalization, the patient developed a rapid neurological impairment evolving into coma. CT scan showed a round, ring-shaped low density lesion with hyperdense and enhancing haemorragic centre in the left basal ganglia and a smaller hypodense lesion on the right. There was also evidence of cortical atrophy and mild ventricular dilatation. Such lesions are more commonly described in children with AIDS and congenital cytomegalic inclusion virus (CMV) encephalitis. In this case toxoplasma cysts were shown microscopically reinforcing the contention that in patients with AIDS, toxoplasma gondii infection may occur with atypical manifestation. (orig.).

An unusual CXT presentation of congenital cerebral toxoplasmosis in an 8 month-old boy with AIDS

International Nuclear Information System (INIS)

Taccone, A.; Fondelli, M.P.; Marzoli, A.; Ferrea, G.

1992-01-01

We report on a 8-month-old boy with AIDS, born of an asymptomatic mother with positive HTLV-III serology. He was hospitalized in the Intensive Care Unit because of anemia, fever and hepatosplenomegaly. Chest X-ray showed pneumonia and subsquent blood cultures were positive for Candida albicans. After 3 days of Amphotericine B treatment, the patient was transferred to Infectious Disease Department. After 30 days of hospitalization, the patient developed a rapid neurological impairment evolving into coma. CT scan showed a round, ring-shaped low density lesion with hyperdense and enhancing haemorragic centre in the left basal ganglia and a smaller hypodense lesion on the right. There was also evidence of cortical atrophy and mild ventricular dilatation. Such lesions are more commonly described in children with AIDS and congenital cytomegalic inclusion virus (CMV) encephalitis. In this case toxoplasma cysts were shown microscopically reinforcing the contention that in patients with AIDS, toxoplasma gondii infection may occur with atypical manifestation. (orig.)

Cholinergic systems are essential for late-stage maturation and refinement of motor cortical circuits

Science.gov (United States)

Ramanathan, Dhakshin S.; Conner, James M.; Anilkumar, Arjun A.

2014-01-01

Previous studies reported that early postnatal cholinergic lesions severely perturb early cortical development, impairing neuronal cortical migration and the formation of cortical dendrites and synapses. These severe effects of early postnatal cholinergic lesions preclude our ability to understand the contribution of cholinergic systems to the later-stage maturation of topographic cortical representations. To study cholinergic mechanisms contributing to the later maturation of motor cortical circuits, we first characterized the temporal course of cortical motor map development and maturation in rats. In this study, we focused our attention on the maturation of cortical motor representations after postnatal day 25 (PND 25), a time after neuronal migration has been accomplished and cortical volume has reached adult size. We found significant maturation of cortical motor representations after this time, including both an expansion of forelimb representations in motor cortex and a shift from proximal to distal forelimb representations to an extent unexplainable by simple volume enlargement of the neocortex. Specific cholinergic lesions placed at PND 24 impaired enlargement of distal forelimb representations in particular and markedly reduced the ability to learn skilled motor tasks as adults. These results identify a novel and essential role for cholinergic systems in the late refinement and maturation of cortical circuits. Dysfunctions in this system may constitute a mechanism of late-onset neurodevelopmental disorders such as Rett syndrome and schizophrenia. PMID:25505106

Pitch perception and production in congenital amusia: Evidence from Cantonese speakers.

Science.gov (United States)

Liu, Fang; Chan, Alice H D; Ciocca, Valter; Roquet, Catherine; Peretz, Isabelle; Wong, Patrick C M

2016-07-01

This study investigated pitch perception and production in speech and music in individuals with congenital amusia (a disorder of musical pitch processing) who are native speakers of Cantonese, a tone language with a highly complex tonal system. Sixteen Cantonese-speaking congenital amusics and 16 controls performed a set of lexical tone perception, production, singing, and psychophysical pitch threshold tasks. Their tone production accuracy and singing proficiency were subsequently judged by independent listeners, and subjected to acoustic analyses. Relative to controls, amusics showed impaired discrimination of lexical tones in both speech and non-speech conditions. They also received lower ratings for singing proficiency, producing larger pitch interval deviations and making more pitch interval errors compared to controls. Demonstrating higher pitch direction identification thresholds than controls for both speech syllables and piano tones, amusics nevertheless produced native lexical tones with comparable pitch trajectories and intelligibility as controls. Significant correlations were found between pitch threshold and lexical tone perception, music perception and production, but not between lexical tone perception and production for amusics. These findings provide further evidence that congenital amusia is a domain-general language-independent pitch-processing deficit that is associated with severely impaired music perception and production, mildly impaired speech perception, and largely intact speech production.

Early Visual Deprivation Severely Compromises the Auditory Sense of Space in Congenitally Blind Children

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Vercillo, Tiziana; Burr, David; Gori, Monica

2016-01-01

A recent study has shown that congenitally blind adults, who have never had visual experience, are impaired on an auditory spatial bisection task (Gori, Sandini, Martinoli, & Burr, 2014). In this study we investigated how thresholds for auditory spatial bisection and auditory discrimination develop with age in sighted and congenitally blind…

Theory of mind deficit in adult patients with congenital heart disease.

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Chiavarino, Claudia; Bianchino, Claudia; Brach-Prever, Silvia; Riggi, Chiara; Palumbo, Luigi; Bara, Bruno G; Bosco, Francesca M

2015-10-01

This article provides the first assessment of theory of mind, that is, the ability to reason about mental states, in adult patients with congenital heart disease. Patients with congenital heart disease and matched healthy controls were administered classical theory of mind tasks and a semi-structured interview which provides a multidimensional evaluation of theory of mind (Theory of Mind Assessment Scale). The patients with congenital heart disease performed worse than the controls on the Theory of Mind Assessment Scale, whereas they did as well as the control group on the classical theory-of-mind tasks. These findings provide the first evidence that adults with congenital heart disease may display specific impairments in theory of mind. © The Author(s) 2013.

Right perceptual bias and self-face recognition in individuals with congenital prosopagnosia.

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Malaspina, Manuela; Albonico, Andrea; Daini, Roberta

2016-01-01

The existence of a drift to base judgments more on the right half-part of facial stimuli, which falls in the observer's left visual field (left perceptual bias (LPB)), in normal individuals has been demonstrated. However, less is known about the existence of this phenomenon in people affected by face impairment from birth, namely congenital prosopagnosics. In the current study, we aimed to investigate the presence of the LPB under face impairment conditions using chimeric stimuli and the most familiar face of all: the self-face. For this purpose we tested 10 participants with congenital prosopagnosia and 21 healthy controls with a face matching task using facial stimuli, involving a spatial manipulation of the left and the right hemi-faces of self-photos and photos of others. Even though congenital prosopagnosics performance was significantly lower than that of controls, both groups showed a consistent self-face advantage. Moreover, congenital prosopagnosics showed optimal performance when the right side of their face was presented, that is, right perceptual bias, suggesting a differential strategy for self-recognition in those subjects. A possible explanation for this result is discussed.

Immediate improvement of motor function after epilepsy surgery in congenital hemiparesis.

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Pascoal, Tharick; Paglioli, Eliseu; Palmini, André; Menezes, Rafael; Staudt, Martin

2013-08-01

Hemispherectomy often leads to a loss of contralateral hand function. In some children with congenital hemiparesis, however, paretic hand function remains unchanged. An immediate improvement of hand function has never been reported. A 17-year-old boy with congenital hemiparesis and therapy-refractory seizures due to a large infarction in the territory of the middle cerebral artery underwent epilepsy surgery. Intraoperatively, electrical cortical stimulation of the affected hemisphere demonstrated preserved motor projections from the sensorimotor cortex to the (contralateral) paretic hand. A frontoparietal resection was performed, which included a complete disconnection of all motor projections originating in the sensorimotor cortex of the affected hemisphere. Surprisingly, the paretic hand showed a significant functional improvement immediately after the operation. This observation demonstrates that, in congenital hemiparesis, crossed motor projections from the affected hemisphere are not always beneficial, but can be dysfunctional, interfering with ipsilateral motor control over the paretic hand by the contralesional hemisphere. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis

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Jieqiong Wang

2017-09-01

Full Text Available Previous studies on congenital amusia mainly focused on the impaired fronto-temporal pathway. It is possible that neural pathways of amusia patients on a larger scale are affected. In this study, we investigated changes in structural connections by applying both tract-based and network-based analysis to DTI data of 12 subjects with congenital amusia and 20 demographic-matched normal controls. TBSS (tract-based spatial statistics was used to detect microstructural changes. The results showed that amusics had higher diffusivity indices in the corpus callosum, the right inferior/superior longitudinal fasciculus, and the right inferior frontal-occipital fasciculus (IFOF. The axial diffusivity values of the right IFOF were negatively correlated with musical scores in the amusia group. Network-based analysis showed that the efficiency of the brain network was reduced in amusics. The impairments of WM tracts were also found to be correlated with reduced network efficiency in amusics. This suggests that impaired WM tracts may lead to the reduced network efficiency seen in amusics. Our findings suggest that congenital amusia is a disconnection syndrome.

Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis.

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Wang, Jieqiong; Zhang, Caicai; Wan, Shibiao; Peng, Gang

2017-01-01

Previous studies on congenital amusia mainly focused on the impaired fronto-temporal pathway. It is possible that neural pathways of amusia patients on a larger scale are affected. In this study, we investigated changes in structural connections by applying both tract-based and network-based analysis to DTI data of 12 subjects with congenital amusia and 20 demographic-matched normal controls. TBSS (tract-based spatial statistics) was used to detect microstructural changes. The results showed that amusics had higher diffusivity indices in the corpus callosum, the right inferior/superior longitudinal fasciculus, and the right inferior frontal-occipital fasciculus (IFOF). The axial diffusivity values of the right IFOF were negatively correlated with musical scores in the amusia group. Network-based analysis showed that the efficiency of the brain network was reduced in amusics. The impairments of WM tracts were also found to be correlated with reduced network efficiency in amusics. This suggests that impaired WM tracts may lead to the reduced network efficiency seen in amusics. Our findings suggest that congenital amusia is a disconnection syndrome.

Functional specialisation within the cortical language network: effects of cortical dysfunction.

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Vandenberghe, R

2007-01-01

In the 1990's neuroanatomical models of language and semantic memory have been mainly based on functional neuroimaging studies of brain activity in healthy volunteers and correlational studies between structural lesions in patients and behavioral deficits. In this paper we present a novel approach where we test models that have been developed in healthy volunteers by means of functional imaging in patients in combination with behavioral studies. Study populations consist of patients with focal cortical stroke (n = 2), amnestic mild cognitive impairment (n = 14) and primary progressive aphasia (n = 18). The experiments provide converging evidence that 1. the integrity of the right mid- and anterior fusiform gyrus is required for full and detailed retrieval of knowledge of visual attributes of concrete entities 2. the left posterior superior temporal sulcus is critically involved in lexical-semantic retrieval 3. the anterior temporal pole to the left functions as an associative structure that links the representations of meaning that are distribured over the cortical brain surface. Our experiments also provide us with new insight into the degradation and re-organisation of the language system in cortical neurodegenerative disease.

Congenital Unilateral Deafness Affects Cerebral Organization of Reading

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Alice Mado Proverbio

2013-06-01

Full Text Available It is known that early sensory deprivation modifies brain functional structure and connectivity. The aim of the present study was to investigate the neuro-functional organization of reading in a patient with profound congenital unilateral deafness. Using event-related potentials (ERPs, we compared cortical networks supporting the processing of written words in patient RA (completely deaf in the right ear since birth and in a group of control volunteers. We found that congenital unilateral hearing deprivation modifies neural mechanisms of word reading. Indeed, while written word processing was left-lateralized in controls, we found a strong right lateralization of the fusiform and inferior occipital gyri activation in RA. This finding goes in the same direction of recent proposals that the ventral occipito-temporal activity in word reading seem to lateralize to the same hemisphere as the one involved in spoken language processing.

Functional neural substrates of posterior cortical atrophy patients.

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Shames, H; Raz, N; Levin, Netta

2015-07-01

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome in which the most pronounced pathologic involvement is in the occipito-parietal visual regions. Herein, we aimed to better define the cortical reflection of this unique syndrome using a thorough battery of behavioral and functional MRI (fMRI) tests. Eight PCA patients underwent extensive testing to map their visual deficits. Assessments included visual functions associated with lower and higher components of the cortical hierarchy, as well as dorsal- and ventral-related cortical functions. fMRI was performed on five patients to examine the neuronal substrate of their visual functions. The PCA patient cohort exhibited stereopsis, saccadic eye movements and higher dorsal stream-related functional impairments, including simultant perception, image orientation, figure-from-ground segregation, closure and spatial orientation. In accordance with the behavioral findings, fMRI revealed intact activation in the ventral visual regions of face and object perception while more dorsal aspects of perception, including motion and gestalt perception, revealed impaired patterns of activity. In most of the patients, there was a lack of activity in the word form area, which is known to be linked to reading disorders. Finally, there was evidence of reduced cortical representation of the peripheral visual field, corresponding to the behaviorally assessed peripheral visual deficit. The findings are discussed in the context of networks extending from parietal regions, which mediate navigationally related processing, visually guided actions, eye movement control and working memory, suggesting that damage to these networks might explain the wide range of deficits in PCA patients.

Congenital varicella syndrome: cranial MRI in a long-term survivor

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Deasy, N.P.; Jarosz, J.M.; Cox, T.C.S.; Hughes, E.

1999-01-01

Congenital varicella syndrome is a rare disorder which follows maternal infection in the first or early second trimester. The syndrome comprises a number of malformations including microcephaly, cortical destruction and limb hypoplasia. We describe a case where there has been long-term survival following second trimester maternal infection. The clinical findings, including the characteristic lower limb hypoplasia, are documented, as are the appearances on cranial MRI indicating an encephaloclastic porencephaly. (orig.) (orig.)

Reduced Discrimination in the Tritanopic Confusion Line for Congenital Color Deficiency Adults

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Marcelo Fernandes Costa

2016-03-01

Full Text Available In congenital color blindness the red-green discrimination is impaired resulting in an increased confusion between those colors with yellow. Our post-receptoral physiological mechanisms are organized in two pathways for color perception, a red-green (protanopic and deuteranopic and a blue-yellow (tritanopic. We argue that the discrimination losses in the yellow area in congenital color vision deficiency subjects could generate a subtle loss of discriminability in the tritanopic channel considering discrepancies with yellow perception. We measured color discrimination thresholds for blue and yellow of tritanopic channel in congenital color deficiency subjects. Chromaticity thresholds were measured around a white background (0.1977 u’, 0.4689 v’ in the CIE 1976 consisting of a blue-white and white-yellow thresholds in a tritanopic color confusion line of 21 congenital colorblindness subjects (mean age = 27.7; SD= 5.6 years; 14 deuteranomalous and 7 protanomalous and of 82 (mean age = 25.1; SD= 3.7 years normal color vision subjects. Significant increase in the whole tritanopic axis was found for both deuteranomalous and protanomalous subjects compared to controls for the blue-white (F2,100= 18.80; p< 0.0001 and white-yellow (F2,100= 22.10; p< 0.0001 thresholds. A Principal Component Analysis found a weighting toward to the yellow thresholds induced by deuteranomalous subjects. In conclusion, the discrimination in the tritanopic color confusion axis is significantly reduced in congenital color vision deficiency compared to normal subjects. Since yellow discrimination was impaired the balance of the blue-yellow channels is impaired justifying the increased thresholds found for blue-white discrimination. The weighting toward the yellow region of the color space with the deuteranomalous contributing to that perceptual distortion is discussed in terms of physiological mechanisms.

Cortical thickness in de novo patients with Parkinson disease and mild cognitive impairment with consideration of clinical phenotype and motor laterality.

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Danti, S; Toschi, N; Diciotti, S; Tessa, C; Poletti, M; Del Dotto, P; Lucetti, C

2015-12-01

Parkinson's disease (PD) is a progressive neurodegenerative disorder with motor and non-motor symptoms, including cognitive deficits. Several magnetic resonance imaging approaches have been applied to investigate brain atrophy in PD. The aim of this study was to detect early structural cortical and subcortical changes in de novo PD whilst distinguishing cognitive status, clinical phenotype and motor laterality. Eighteen de novo PD with mild cognitive impairment (PD-MCI), 18 de novo PD without MCI (PD-NC) and 18 healthy control subjects were evaluated. In the PD-MCI group, nine were tremor dominant and nine were postural instability gait disorder (PIGD) phenotype; 11 had right-sided symptom dominance and seven had left-sided symptom dominance. FreeSurfer was used to measure cortical thickness/folding, subcortical structures and to study group differences as well as the association with clinical and neuropsychological data. Parkinson's disease with MCI showed regional thinning in the right frontal, right middle temporal areas and left insula compared to PD-NC. A reduction of the volume of the left and right thalamus and left hippocampus was found in PD-MCI compared to PD-NC. PD-MCI PIGD showed regional thinning in the right inferior parietal area compared to healthy controls. A decreased volume of the left thalamus was reported in PD-MCI with right-sided symptom dominance compared to PD-NC and PD-MCI with left-sided symptom dominance. When MCI was present, PD patients showed a fronto-temporo-parietal pattern of cortical thinning. This cortical pattern does not appear to be influenced by motor laterality, although one-sided symptom dominance may contribute to volumetric reduction of specific subcortical structures. © 2015 EAN.

Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

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Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

2017-03-01

Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

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Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

2014-03-28

Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Impaired holistic processing of left-right composite faces in congenital prosopagnosia.

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Liu, Tina T; Behrmann, Marlene

2014-01-01

Congenital prosopagnosia (CP) refers to a lifelong impairment in face processing despite normal visual and intellectual skills. Many studies have suggested that the key underlying deficit in CP is one of a failure to engage holistic processing. Moreover, there has been some suggestion that, in normal observers, there may be greater involvement of the right than left hemisphere in holistic processing. To examine the proposed deficit in holistic processing and its potential hemispheric atypicality in CP, we compared the performance of 8 CP individuals with both matched controls and a large group of non-matched controls on a novel, vertical composite task. In this task, participants judged whether a cued half of a face (either left or right half) was the same or different at study and test, and the two face halves could be either aligned or misaligned. The standard index of holistic processing is one in which the unattended face half influences performance on the cued half and this influence is greater in the aligned than in the misaligned condition. Relative to controls, the CP participants, both at a group and at an individual level, did not show holistic processing in the vertical composite task. There was also no difference in performance as a function of hemifield of the cued face half in the CP individuals, and this was true in the control participants, as well. The findings clearly confirm the deficit in holistic processing in CP and reveal the useful application of this novel experimental paradigm to this population and potentially to others as well.

Cortical thickness abnormalities associated with dyslexia, independent of remediation status

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Ma, Yizhou; Koyama, Maki S.; Milham, Michael P.; Castellanos, F. Xavier; Quinn, Brian T.; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

2014-01-01

Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the “reading network.” Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same “double hit” of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status. PMID:25610779

The Mechanism of Speech Processing in Congenital Amusia: Evidence from Mandarin Speakers

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Liu, Fang; Jiang, Cunmei; Thompson, William Forde; Xu, Yi; Yang, Yufang; Stewart, Lauren

2012-01-01

Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing. This study investigated speech processing in a group of Mandarin speakers with congenital amusia. Thirteen Mandarin amusics and thirteen matched controls participated in a set of tone and intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance on word discrimin...

Quantitative Postural Analysis of Children With Congenital Visual Impairment.

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de Pádua, Michelle; Sauer, Juliana F; João, Silvia M A

2018-01-01

The aim of this study was to compare the postural alignment of children with visual impairment with that of children without visual impairment. The sample studied was 74 children of both sexes ages 5 to 12 years. Of these, 34 had visual impairment and 40 were control children. Digital photos from the standing position were used to analyze posture. Postural variables, such as tilt of the head, shoulder position, scapula position, lateral deviation of the spine, ankle position in the frontal plane and head posture, angle of thoracic kyphosis, angle of lumbar lordosis, pelvis position, and knee position in the frontal and sagittal planes, were measured with the Postural Assessment Software 0.63, version 36 (SAPO, São Paulo, Brazil), with markers placed in predetermined bony landmarks. The main results of this study showed that children with visual impairment have increased head tilt (P Visual impairment influences postural alignment. Children with visual impairment had increased head tilt, uneven shoulders, greater lateral deviation of the spine, thoracic kyphosis, lower lumbar lordosis, and more severe valgus deformities on knees. Copyright © 2017. Published by Elsevier Inc.

Dual Pathology Causing Congenital Bladder Outlet Obstruction.

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Kwong, Ruth; Johal, Navroop S; Upasani, Anand; Paul, Anu; Cuckow, Peter

2017-12-07

Anterior urethral syringocele is an uncommon congenital deformity characterised by cystic dilatation of bulbo-urethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves (PUV). Copyright © 2017. Published by Elsevier Inc.

Quantitative analysis of gait in the visually impaired.

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Nakamura, T

1997-05-01

In this comparative study concerning characteristics of independent walking by visually impaired persons, we used a motion analyser system to perform gait analysis of 15 late blind (age 36-54, mean 44.3 years), 15 congenitally blind (age 39-48, mean 43.8 years) and 15 sighted persons (age 40-50, mean 44.4 years) while walking a 10-m walkway. All subjects were male. Compared to the sighted, late blind and congenitally blind persons had a significantly slower walking speed, shorter stride length and longer time in the stance phase of gait. However, the relationships between gait parameters in the late and congenitally blind groups were maintained, as in the sighted group. In addition, the gait of the late blind showed a tendency to approximate the gait patterns of the congenitally blind as the duration of visual loss progressed. Based on these results we concluded that the gait of visually impaired persons, through its active use of non-visual sensory input, represents an attempt to adapt to various environmental conditions in order to maintain a more stable posture and to effect safe walking.

Cortical thickness, surface area, and folding alterations in male youths with conduct disorder and varying levels of callous–unemotional traits

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Graeme Fairchild

2015-01-01

Conclusions: Cortical thinning in the superior temporal gyrus may contribute to the social cognitive impairments displayed by youths with CD, whereas reduced OFC SA may lead to impairments in emotion regulation and reward processing in youths with CD. The increased cortical folding observed in the insula may reflect a maturational delay in this region and could mediate the link between CU traits and empathy deficits. Altered cortical folding was observed in childhood-onset and adolescence-onset forms of CD.

Enhanced tactile encoding and memory recognition in congenital blindness.

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D'Angiulli, Amedeo; Waraich, Paul

2002-06-01

Several behavioural studies have shown that early-blind persons possess superior tactile skills. Since neurophysiological data show that early-blind persons recruit visual as well as somatosensory cortex to carry out tactile processing (cross-modal plasticity), blind persons' sharper tactile skills may be related to cortical re-organisation resulting from loss of vision early in their life. To examine the nature of blind individuals' tactile superiority and its implications for cross-modal plasticity, we compared the tactile performance of congenitally totally blind, low-vision and sighted children on raised-line picture identification test and re-test, assessing effects of task familiarity, exploratory strategy and memory recognition. What distinguished the blind from the other children was higher memory recognition and higher tactile encoding associated with efficient exploration. These results suggest that enhanced perceptual encoding and recognition memory may be two cognitive correlates of cross-modal plasticity in congenital blindness.

Congenital prosopagnosia: A case report

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Rodrigo Rizek Schultz

Full Text Available Abstract Prosopagnosia is a visual agnosia characterized by an inability to recognize previously known human faces and to learn new faces. The aim of this study was to present a forty-six year-old woman with congenital prosopagnosia, and to discuss the neural bases of perception and recognition of faces. The patients had a lifetime impairment in recognizing faces of family members, close friends, and even her own face in photos. She also had impairment in recognizing animals such as discriminating between cats and dogs. The patient's basic visual skills showed impairment in identifying and recognizing the animal form perception on the coding subtest of the WAIS-R, recognizing overlapping pictures (Luria, and in identifying silhouettes depicting animals and objects (VOSP. Unconventional tests using pictures evidenced impairment in her capacity to identify famous faces, facial emotions and animals. Her face perception abilities were preserved, but recognition could not take place. Therefore, it appears that the agnosia in this case best fits the group of categories termed "associative".

Cognitive impairment and medial temporal lobe structure in young adults with a depressive episode.

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Donix, Markus; Haussmann, Robert; Helling, Franziska; Zweiniger, Anne; Lange, Jan; Werner, Annett; Donix, Katharina L; Brandt, Moritz D; Linn, Jennifer; Bauer, Michael; Buthut, Maria

2018-09-01

Cognitive deficits are common in patients with a depressive episode although the predictors for their development and severity remain elusive. We investigated whether subjective and objective cognitive impairment in young depressed adults would be associated with cortical thinning in medial temporal subregions. High-resolution magnetic resonance imaging, cortical unfolding data analysis, and comprehensive assessments of subjective and objective cognitive abilities were performed on 27 young patients with a depressive episode (mean age: 29.0 ± 5.8 years) and 23 older participants without a history of a depressive disorder but amnestic mild cognitive impairment (68.5 ± 6.6 years) or normal cognition (65.2 ± 8.7 years). Thickness reductions in parahippocampal, perirhinal and fusiform cortices were associated with subjective memory deficits only among young patients with a depressive episode and a measurable cognitive impairment. Long-term longitudinal data would be desirable to determine the trajectories of cognitive impairment associated with depression in patients with or without cortical structure changes. The presence of clinically significant cognitive deficits in young people with a depressive episode may identify a patient population with extrahippocampal cortical thinning. Copyright © 2018 Elsevier B.V. All rights reserved.

Intonation Processing in Congenital Amusia: Discrimination, Identification and Imitation

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Liu, Fang; Patel, Aniruddh D.; Fourcin, Adrian; Stewart, Lauren

2010-01-01

This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing. In total, 16 British amusics and 16 matched controls completed five intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance…

Nursing diagnoses in children with congenital heart disease: a survival analysis.

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Martins da Silva, Viviane; Lopes, Marcos Venícios de Oliveira; Leite de Araujo, Thelma

2007-01-01

To analyze the relationship between nursing diagnoses and survival rates in children with congenital heart disease. A total of 270 observations were carried out in 45 children with congenital heart disease who were followed for 15 days. Differences in mean survival times were identified in children not more than 4 months of age with respect to the following diagnoses: impaired gas exchange, ineffective breathing pattern, activity intolerance, delayed growth and development, and decreased cardiac output. The main diagnoses are identified early in the hospitalization period and are conditions resulting from hemodynamic alterations and prescribed medical treatment. Congenital heart disease provokes serious hemodynamic alterations that generate human responses, which should be treated proactively.

Cortical Cerebral Microinfarcts on 3 Tesla MRI in Patients with Vascular Cognitive Impairment.

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Ferro, Doeschka A; van Veluw, Susanne J; Koek, Huiberdina L; Exalto, Lieza G; Biessels, Geert Jan

2017-01-01

Cerebral microinfarcts (CMIs) are small ischemic lesions that are a common neuropathological finding in patients with stroke or dementia. CMIs in the cortex can now be detected in vivo on 3 Tesla MRI. To determine the occurrence of CMIs and associated clinical features in patients with possible vascular cognitive impairment (VCI). 182 memory-clinic patients (mean age 71.4±10.6, 55% male) with vascular injury on brain MRI (i.e., possible VCI) underwent a standardized work-up including 3 Tesla MRI and cognitive assessment. A control group consisted of 70 cognitively normal subjects (mean age 70.6±4.7, 60% male). Cortical CMIs and other neuroimaging markers of vascular brain injury were rated according to established criteria. Occurrence of CMIs was higher (20%) in patients compared to controls (10%). Among patients, the presence of CMIs was associated with male sex, history of stroke, infarcts, and white matter hyperintensities. CMI presence was also associated with a diagnosis of vascular dementia and reduced performance in multiple cognitive domains. CMIs on 3 Tesla MRI are common in patients with possible VCI and co-occur with imaging markers of small and large vessel disease, likely reflecting a heterogeneous etiology. CMIs are associated with worse cognitive performance, independent of other markers of vascular brain injury.

Molecular imaging of serotonin degeneration in mild cognitive impairment.

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Smith, Gwenn S; Barrett, Frederick S; Joo, Jin Hui; Nassery, Najlla; Savonenko, Alena; Sodums, Devin J; Marano, Christopher M; Munro, Cynthia A; Brandt, Jason; Kraut, Michael A; Zhou, Yun; Wong, Dean F; Workman, Clifford I

2017-09-01

Neuropathological and neuroimaging studies have consistently demonstrated degeneration of monoamine systems, especially the serotonin system, in normal aging and Alzheimer's disease. The evidence for degeneration of the serotonin system in mild cognitive impairment is limited. Thus, the goal of the present study was to measure the serotonin transporter in vivo in mild cognitive impairment and healthy controls. The serotonin transporter is a selective marker of serotonin terminals and of the integrity of serotonin projections to cortical, subcortical and limbic regions and is found in high concentrations in the serotonergic cell bodies of origin of these projections (raphe nuclei). Twenty-eight participants with mild cognitive impairment (age 66.6±6.9, 16 males) and 28 healthy, cognitively normal, demographically matched controls (age 66.2±7.1, 15 males) underwent magnetic resonance imaging for measurement of grey matter volumes and high-resolution positron emission tomography with well-established radiotracers for the serotonin transporter and regional cerebral blood flow. Beta-amyloid imaging was performed to evaluate, in combination with the neuropsychological testing, the likelihood of subsequent cognitive decline in the participants with mild cognitive impairment. The following hypotheses were tested: 1) the serotonin transporter would be lower in mild cognitive impairment compared to controls in cortical and limbic regions, 2) in mild cognitive impairment relative to controls, the serotonin transporter would be lower to a greater extent and observed in a more widespread pattern than lower grey matter volumes or lower regional cerebral blood flow and 3) lower cortical and limbic serotonin transporters would be correlated with greater deficits in auditory-verbal and visual-spatial memory in mild cognitive impairment, not in controls. Reduced serotonin transporter availability was observed in mild cognitive impairment compared to controls in cortical and limbic

Overview of Usher's Syndrome: Congenital Deafness and Progressive Loss of Vision

Science.gov (United States)

Vernon, McCay

1974-01-01

Usher's syndrome, a genetic condition causing congenital profound hearing loss and a progressive blindness due to retinitis pigmentosa, affects an estimated three to six percent of children in educational and rehabilitative programs for the hearing impaired. (Author)

Cortical Thinning and Altered Cortico-Cortical Structural Covariance of the Default Mode Network in Patients with Persistent Insomnia Symptoms.

Science.gov (United States)

Suh, Sooyeon; Kim, Hosung; Dang-Vu, Thien Thanh; Joo, Eunyeon; Shin, Chol

2016-01-01

Recent studies have suggested that structural abnormalities in insomnia may be linked with alterations in the default-mode network (DMN). This study compared cortical thickness and structural connectivity linked to the DMN in patients with persistent insomnia (PI) and good sleepers (GS). The current study used a clinical subsample from the longitudinal community-based Korean Genome and Epidemiology Study (KoGES). Cortical thickness and structural connectivity linked to the DMN in patients with persistent insomnia symptoms (PIS; n = 57) were compared to good sleepers (GS; n = 40). All participants underwent MRI acquisition. Based on literature review, we selected cortical regions corresponding to the DMN. A seed-based structural covariance analysis measured cortical thickness correlation between each seed region of the DMN and other cortical areas. Association of cortical thickness and covariance with sleep quality and neuropsychological assessments were further assessed. Compared to GS, cortical thinning was found in PIS in the anterior cingulate cortex, precentral cortex, and lateral prefrontal cortex. Decreased structural connectivity between anterior and posterior regions of the DMN was observed in the PIS group. Decreased structural covariance within the DMN was associated with higher PSQI scores. Cortical thinning in the lateral frontal lobe was related to poor performance in executive function in PIS. Disrupted structural covariance network in PIS might reflect malfunctioning of antero-posterior disconnection of the DMN during the wake to sleep transition that is commonly found during normal sleep. The observed structural network alteration may further implicate commonly observed sustained sleep difficulties and cognitive impairment in insomnia. © 2016 Associated Professional Sleep Societies, LLC.

Long-term ocular prognosis in 327 children with congenital toxoplasmosis.

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Wallon, Martine; Kodjikian, Laurent; Binquet, Christine; Garweg, Justus; Fleury, Jacques; Quantin, Catherine; Peyron, François

2004-06-01

Retinochoroiditis is the most frequent consequence of congenital toxoplasmosis. Early diagnosis and treatment are believed to reduce the risk of visual impairment. We report on the clinical evolution of ocular lesions and final visual function in a prospective cohort of congenitally infected children who were identified during monthly maternal prenatal screening. The study included 327 congenitally infected children who were monitored for up to 14 years at the Croix Rousse Hospital in Lyon, France. Data on date of maternal infection; time and type of therapy; antenatal, neonatal, and postnatal work-ups; and ocular status were analyzed. All mothers but 52 had been treated. Pyrimethamine and sulfadiazine was given in utero to 38% of children and after birth to 72% of newborns. Fansidar was given for an average duration of 337 days in all but 2 children. After a median follow-up of 6 years, 79 (24%) children had at least 1 retinochoroidal lesion. In 23 (29%) of them, at least 1 new event had been diagnosed up to 10 years after detection of the first lesions: reactivation of an existing lesion (1 case), new lesion in a previously healthy location (19 cases), or both (3 cases). Fifty-five children had lesions in 1 eye; of the 45 children for whom final visual acuity data were available, 31 (69%) had normal vision. Twenty-four children had lesions in both eyes; of the 21 for whom final visual acuity data were available, 11 had normal vision in both eyes. None had bilateral visual impairment. Clinicians, parents, and elder children with congenital infection should be informed that late-onset retinal lesions and relapse can occur many years after birth but that the overall ocular prognosis of congenital toxoplasmosis is satisfactory when infection is identified early and treated accordingly.

Diagnostic pitfalls in the assessment of congenital hypopituitarism.

Science.gov (United States)

Cavarzere, Paolo; Biban, Paolo; Gaudino, Rossella; Perlini, Silvia; Sartore, Lorenzo; Chini, Lorenza; Silvagni, Davide; Antoniazzi, Franco

2014-12-01

The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific. To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment. We analyzed a cohort of five children with congenital hypopituitarism, describing their clinical, biochemical and radiological characteristics from the birth to diagnosis. As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases, the clinicians hypothesized a metabolic disease delaying the diagnosis, which was performed in only two cases within the neonatal period. In the other three cases, the diagnosis was formulated at 2, 5 and 8 years of life because there was severe and precocious growth impairment. It is important to suspect congenital hypopituitarism in the presence of persistent neonatal hypoglycemia associated with jaundice and of a precocious and severe reduction of the growth velocity in childhood. In all these cases, it is necessary to undertake a hypothalamic-pituitary magnetic resonance imaging scan as soon as possible, and to start appropriate treatment.

Auditory cortical function during verbal episodic memory encoding in Alzheimer's disease.

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Dhanjal, Novraj S; Warren, Jane E; Patel, Maneesh C; Wise, Richard J S

2013-02-01

Episodic memory encoding of a verbal message depends upon initial registration, which requires sustained auditory attention followed by deep semantic processing of the message. Motivated by previous data demonstrating modulation of auditory cortical activity during sustained attention to auditory stimuli, we investigated the response of the human auditory cortex during encoding of sentences to episodic memory. Subsequently, we investigated this response in patients with mild cognitive impairment (MCI) and probable Alzheimer's disease (pAD). Using functional magnetic resonance imaging, 31 healthy participants were studied. The response in 18 MCI and 18 pAD patients was then determined, and compared to 18 matched healthy controls. Subjects heard factual sentences, and subsequent retrieval performance indicated successful registration and episodic encoding. The healthy subjects demonstrated that suppression of auditory cortical responses was related to greater success in encoding heard sentences; and that this was also associated with greater activity in the semantic system. In contrast, there was reduced auditory cortical suppression in patients with MCI, and absence of suppression in pAD. Administration of a central cholinesterase inhibitor (ChI) partially restored the suppression in patients with pAD, and this was associated with an improvement in verbal memory. Verbal episodic memory impairment in AD is associated with altered auditory cortical function, reversible with a ChI. Although these results may indicate the direct influence of pathology in auditory cortex, they are also likely to indicate a partially reversible impairment of feedback from neocortical systems responsible for sustained attention and semantic processing. Copyright © 2012 American Neurological Association.

Cortical hypermetabolism in MCI subjects: a compensatory mechanism?

International Nuclear Information System (INIS)

Ashraf, A.; Fan, Z.; Brooks, D.J.; Edison, P.

2015-01-01

Alzheimer's disease (AD) is associated with amyloid accumulation that takes place decades before symptoms appear. Cognitive impairment in AD is associated with reduced glucose metabolism. However, neuronal plasticity/compensatory mechanisms might come into play before the onset of dementia. The aim of this study was to determine whether there is evidence of cortical hypermetabolism as a compensatory mechanism before amyloid deposition takes place in subjects with amnestic mild cognitive impairment (aMCI). Nine AD subjects and ten aMCI subjects had both [ 11 C]PIB and [ 18 F]FDG PET scans with arterial input in order to quantify the amyloid deposition and glucose metabolism in vivo in comparison with healthy control subjects who underwent either [ 11 C]PIB or [ 18 F]FDG PET scans. The [ 11 C]PIB PET scans were quantified using [ 11 C]PIB target region to cerebellum uptake ratio images created by integrating the activity collected from 60 to 90 min, and regional cerebral glucose metabolism was quantified using spectral analysis. In MCI subjects, cortical hypermetabolism was observed in four amyloid-negative subjects and one amyloid-positive subject, while hypometabolism was seen in five other MCI subjects with high amyloid load. Subjects with hypermetabolism and low amyloid did not convert to AD during clinical follow-up for 18 months in contrast to four amyloid-positive hypometabolic subjects who did convert to AD. This preliminary study suggests that compensatory hypermetabolism can occur in aMCI subjects, particularly in those who are amyloid-negative. The increase in metabolic rate in different cortical regions with predominance in the occipital cortex may be a compensatory response to the neuronal damage occurring early in the disease process. It may also reflect recruitment of relatively minimally affected cortical regions to compensate for reduced function in the temporoparietal cortical association areas. (orig.)

Cortical hypermetabolism in MCI subjects: a compensatory mechanism?

Energy Technology Data Exchange (ETDEWEB)

Ashraf, A.; Fan, Z.; Brooks, D.J.; Edison, P. [Imperial College London, Neurology Imaging Unit, Division of Brain Sciences, London (United Kingdom)

2014-09-30

Alzheimer's disease (AD) is associated with amyloid accumulation that takes place decades before symptoms appear. Cognitive impairment in AD is associated with reduced glucose metabolism. However, neuronal plasticity/compensatory mechanisms might come into play before the onset of dementia. The aim of this study was to determine whether there is evidence of cortical hypermetabolism as a compensatory mechanism before amyloid deposition takes place in subjects with amnestic mild cognitive impairment (aMCI). Nine AD subjects and ten aMCI subjects had both [{sup 11}C]PIB and [{sup 18}F]FDG PET scans with arterial input in order to quantify the amyloid deposition and glucose metabolism in vivo in comparison with healthy control subjects who underwent either [{sup 11}C]PIB or [{sup 18}F]FDG PET scans. The [{sup 11}C]PIB PET scans were quantified using [{sup 11}C]PIB target region to cerebellum uptake ratio images created by integrating the activity collected from 60 to 90 min, and regional cerebral glucose metabolism was quantified using spectral analysis. In MCI subjects, cortical hypermetabolism was observed in four amyloid-negative subjects and one amyloid-positive subject, while hypometabolism was seen in five other MCI subjects with high amyloid load. Subjects with hypermetabolism and low amyloid did not convert to AD during clinical follow-up for 18 months in contrast to four amyloid-positive hypometabolic subjects who did convert to AD. This preliminary study suggests that compensatory hypermetabolism can occur in aMCI subjects, particularly in those who are amyloid-negative. The increase in metabolic rate in different cortical regions with predominance in the occipital cortex may be a compensatory response to the neuronal damage occurring early in the disease process. It may also reflect recruitment of relatively minimally affected cortical regions to compensate for reduced function in the temporoparietal cortical association areas. (orig.)

Shaping the aging brain: Role of auditory input patterns in the emergence of auditory cortical impairments

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Brishna Soraya Kamal

2013-09-01

Full Text Available Age-related impairments in the primary auditory cortex (A1 include poor tuning selectivity, neural desynchronization and degraded responses to low-probability sounds. These changes have been largely attributed to reduced inhibition in the aged brain, and are thought to contribute to substantial hearing impairment in both humans and animals. Since many of these changes can be partially reversed with auditory training, it has been speculated that they might not be purely degenerative, but might rather represent negative plastic adjustments to noisy or distorted auditory signals reaching the brain. To test this hypothesis, we examined the impact of exposing young adult rats to 8 weeks of low-grade broadband noise on several aspects of A1 function and structure. We then characterized the same A1 elements in aging rats for comparison. We found that the impact of noise exposure on A1 tuning selectivity, temporal processing of auditory signal and responses to oddball tones was almost indistinguishable from the effect of natural aging. Moreover, noise exposure resulted in a reduction in the population of parvalbumin inhibitory interneurons and cortical myelin as previously documented in the aged group. Most of these changes reversed after returning the rats to a quiet environment. These results support the hypothesis that age-related changes in A1 have a strong activity-dependent component and indicate that the presence or absence of clear auditory input patterns might be a key factor in sustaining adult A1 function.

Recruitment of the auditory cortex in congenitally deaf cats by long-term cochlear electrostimulation.

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Klinke, R; Kral, A; Heid, S; Tillein, J; Hartmann, R

1999-09-10

In congenitally deaf cats, the central auditory system is deprived of acoustic input because of degeneration of the organ of Corti before the onset of hearing. Primary auditory afferents survive and can be stimulated electrically. By means of an intracochlear implant and an accompanying sound processor, congenitally deaf kittens were exposed to sounds and conditioned to respond to tones. After months of exposure to meaningful stimuli, the cortical activity in chronically implanted cats produced field potentials of higher amplitudes, expanded in area, developed long latency responses indicative of intracortical information processing, and showed more synaptic efficacy than in naïve, unstimulated deaf cats. The activity established by auditory experience resembles activity in hearing animals.

Widespread cortical thinning in patients with neuromyelitis optica spectrum disorder.

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Kim, S-H; Kwak, K; Hyun, J-W; Jeong, I H; Jo, H-J; Joung, A; Kim, J-H; Lee, S H; Yun, S; Joo, J; Lee, J-M; Kim, H J

2016-07-01

Studies on cortical involvement and its relationship with cognitive function in patients with neuromyelitis optica spectrum disorder (NMOSD) remain scarce. The objective of this study was to compare cortical thickness on magnetic resonance imaging (MRI) between patients with NMOSD and multiple sclerosis (MS) and to investigate its relationship with clinical features and cognitive function. This observational clinical imaging study of 91 patients with NMOSD, 52 patients with MS and 44 healthy controls was conducted from 1 December 2013 to 30 April 2015 at the institutional referral center. Three tesla MRI of the brain and neuropsychological tests were performed. Cortical thickness was measured using three-dimensional surface-based analysis. Both sets of patients exhibited cortical thinning throughout the entire brain cortex. Patients with MS showed a significantly greater reduction in cortical thickness over broad regions of the bilateral frontal and parieto-temporal cortices and the left precuneus compared to those with NMOSD. Memory functions in patients with MS were correlated with broad regional cortical thinning, whereas no significant associations were observed between cortical thickness and cognitive function in patients with NMOSD. Widespread cortical thinning was observed in patients with NMOSD and MS, but the extent of cortical thinning was greater in patients with MS. The more severe cortical atrophy may contribute to memory impairment in patients with MS but not in those with NMOSD. These results provide in vivo evidence that the severity and clinical relevance of cortical thinning differ between NMOSD and MS. © 2016 EAN.

Quality of life in Swedish children with congenital ichthyosis

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Agneta Gånemo

2010-05-01

Full Text Available Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their family. Fifteen children aged 5-16 years with lamellar ichthyosis, Netherton’s syndrome, epidermolytic hyperkeratosis or Harlequin ichthyosis, were investigated concerning the effect of their ichthyosis on their quality of life. This was measured with the established Children’s Dermatology Life Quality Index (CDLQI, and the Dermatitis Family Impact questionnaire (DFI modified by substituting the word ichthyosis for eczema. The questionnaires covered the preceding seven days and each had a maximum score of 30: the higher the score, the greater the Quality of Life impairment. The median score was 9.0 (range 2-19 for the CDLQI and 9.0 (range 3-21 for DFI. There was a significant correlation between the DFI and the CDLQI scores. The item in the CDLQI questionnaire that showed the highest score was “itchy, scratchy, sore or painful skin” and the most highly scored item in the DFI questionnaire was effect on “housework, e.g. washing, cleaning”; both items related to the children’s symptoms. The results of the study clearly establish that congenital ichthyosis impairs the quality of life of the affected children and their families.

Title: Cytoskeletal proteins in cortical development and diseasesubtitle: Actin associated proteins in periventricular heterotopia

Directory of Open Access Journals (Sweden)

Gewei eLian

2015-04-01

Full Text Available The actin cytoskeleton regulates many important cellular processes in the brain, including cell division and proliferation, migration, and cytokinesis and differentiation. These developmental processes can be regulated through actin dependent vesicle and organelle movement, cell signaling, and the establishment and maintenance of cell junctions and cell shape. Many of these processes are mediated by extensive and intimate interactions of actin with cellular membranes and proteins. Disruption in the actin cytoskeleton in the brain gives rise to periventricular heterotopia (PH, a malformation of cortical development, characterized by abnormal neurons clustered deep in the brain along the lateral ventricles. This disorder can give rise to seizures, dyslexia and psychiatric disturbances. Anatomically, PH is characterized by a smaller brain (impaired proliferation, heterotopia (impaired initial migration and disruption along the neuroependymal lining (impaired cell-cell adhesion. Genes causal for PH have also been implicated in actin-dependent processes. The current review provides mechanistic insight into actin cytoskeletal regulation of cortical development in the context of this malformation of cortical development.

Brain inflammation accompanies amyloid in the majority of mild cognitive impairment cases due to Alzheimer's disease.

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Parbo, Peter; Ismail, Rola; Hansen, Kim V; Amidi, Ali; Mårup, Frederik H; Gottrup, Hanne; Brændgaard, Hans; Eriksson, Bengt O; Eskildsen, Simon F; Lund, Torben E; Tietze, Anna; Edison, Paul; Pavese, Nicola; Stokholm, Morten G; Borghammer, Per; Hinz, Rainer; Aanerud, Joel; Brooks, David J

2017-07-01

See Kreisl (doi:10.1093/awx151) for a scientific commentary on this article.Subjects with mild cognitive impairment associated with cortical amyloid-β have a greatly increased risk of progressing to Alzheimer's disease. We hypothesized that neuroinflammation occurs early in Alzheimer's disease and would be present in most amyloid-positive mild cognitive impairment cases. 11C-Pittsburgh compound B and 11C-(R)-PK11195 positron emission tomography was used to determine the amyloid load and detect the extent of neuroinflammation (microglial activation) in 42 mild cognitive impairment cases. Twelve age-matched healthy control subjects had 11C-Pittsburgh compound B and 10 healthy control subjects had 11C-(R)-PK11195 positron emission tomography for comparison. Amyloid-positivity was defined as 11C-Pittsburgh compound B target-to-cerebellar ratio above 1.5 within a composite cortical volume of interest. Supervised cluster analysis was used to generate parametric maps of 11C-(R)-PK11195 binding potential. Levels of 11C-(R)-PK11195 binding potential were measured in a selection of cortical volumes of interest and at a voxel level. Twenty-six (62%) of 42 mild cognitive impairment cases showed a raised cortical amyloid load compared to healthy controls. Twenty-two (85%) of the 26 amyloid-positive mild cognitive impairment cases showed clusters of increased cortical microglial activation accompanying the amyloid. There was a positive correlation between levels of amyloid load and 11C-(R)-PK11195 binding potentials at a voxel level within subregions of frontal, parietal and temporal cortices. 11C-(R)-PK11195 positron emission tomography reveals increased inflammation in a majority of amyloid positive mild cognitive impairment cases, its cortical distribution overlapping that of amyloid deposition. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Abnormalities of fixation, saccade and pursuit in posterior cortical atrophy.

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Shakespeare, Timothy J; Kaski, Diego; Yong, Keir X X; Paterson, Ross W; Slattery, Catherine F; Ryan, Natalie S; Schott, Jonathan M; Crutch, Sebastian J

2015-07-01

whose frequency correlated significantly with generalized reductions in cortical thickness. Patients with both posterior cortical atrophy and typical Alzheimer's disease showed lower gain in smooth pursuit compared to controls. The current study establishes that eye movement abnormalities are near-ubiquitous in posterior cortical atrophy, and highlights multiple aspects of saccadic performance which distinguish posterior cortical atrophy from typical Alzheimer's disease. We suggest the posterior cortical atrophy oculomotor profile (e.g. exacerbation of the saccadic gap/overlap effect, preserved saccadic velocity) reflects weak input from degraded occipito-parietal spatial representations of stimulus location into a superior collicular spatial map for eye movement regulation. This may indicate greater impairment of identification of oculomotor targets rather than generation of oculomotor movements. The results highlight the critical role of spatial attention and object identification but also precise stimulus localization in explaining the complex real world perception deficits observed in posterior cortical atrophy and many other patients with dementia-related visual impairment. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain.

Congenitally corrected transposition of great arteries with ischemic symptoms in middle age

International Nuclear Information System (INIS)

Zaidi, Syed M.; Al-Sharary, Mabrooke M.; Sajid, Najeb U.; Al-Khuwaitir, Tarig S.

2007-01-01

Congenitally corrected transposition of great arteries (CCTGA) is a rare congenital disease first described by Von Rokitansky in 1875. Transposition of the great arteries comprises 2.6-7.8% of all cases of congenital heart disease, and if uncorrected, is commonly fatal in first year of life. Patients with corrected transposition of the great arteries without associated defects may remain undiagnosed until adult life. Symptoms occur rarely before the fourth and fifth decades, when rhythm disturbance, left atrioventricular valve regurgitation and moderately impaired systemic ventricular function cause congestive cardiac failure. We report here a case of drug overdose with ischemic symptoms and CCTGA without associated anomalies in a 40-year-old male. (author)

Impairment of preoperative language mapping by lesion location: a functional magnetic resonance imaging, navigated transcranial magnetic stimulation, and direct cortical stimulation study.

Science.gov (United States)

Ille, Sebastian; Sollmann, Nico; Hauck, Theresa; Maurer, Stefanie; Tanigawa, Noriko; Obermueller, Thomas; Negwer, Chiara; Droese, Doris; Boeckh-Behrens, Tobias; Meyer, Bernhard; Ringel, Florian; Krieg, Sandro M

2015-08-01

Language mapping by repetitive navigated transcranial magnetic stimulation (rTMS) is increasingly used and has already replaced functional MRI (fMRI) in some institutions for preoperative mapping of neurosurgical patients. Yet some factors affect the concordance of both methods with direct cortical stimulation (DCS), most likely by lesions affecting cortical oxygenation levels. Therefore, the impairment of the accuracy of rTMS and fMRI was analyzed and compared with DCS during awake surgery in patients with intraparenchymal lesions. Language mapping was performed by DCS, rTMS, and fMRI using an object-naming task in 27 patients with left-sided perisylvian lesions, and the induced language errors of each method were assigned to the cortical parcellation system. Subsequently, the receiver operating characteristics were calculated for rTMS and fMRI and compared with DCS as ground truth for regions with (w/) and without (w/o) the lesion in the mapped regions. The w/ subgroup revealed a sensitivity of 100% (w/o 100%), a specificity of 8% (w/o 5%), a positive predictive value of 34% (w/o: 53%), and a negative predictive value (NPV) of 100% (w/o: 100%) for the comparison of rTMS versus DCS. Findings for the comparison of fMRI versus DCS within the w/ subgroup revealed a sensitivity of 32% (w/o: 62%), a specificity of 88% (w/o: 60%), a positive predictive value of 56% (w/o: 62%), and a NPV of 73% (w/o: 60%). Although strengths and weaknesses exist for both rTMS and fMRI, the results show that rTMS is less affected by a brain lesion than fMRI, especially when performing mapping of language-negative cortical regions based on sensitivity and NPV.

Follow-up brain imaging of 37 children with congenital Zika syndrome: case series study.

Science.gov (United States)

Petribu, Natacha Calheiros de Lima; Aragao, Maria de Fatima Vasco; van der Linden, Vanessa; Parizel, Paul; Jungmann, Patricia; Araújo, Luziany; Abath, Marília; Fernandes, Andrezza; Brainer-Lima, Alessandra; Holanda, Arthur; Mello, Roberto; Sarteschi, Camila; Duarte, Maria do Carmo Menezes Bezerra

2017-10-13

Objective  To compare initial brain computed tomography (CT) scans with follow-up CT scans at one year in children with congenital Zika syndrome, focusing on cerebral calcifications. Design  Case series study. Setting  Barão de Lucena Hospital, Pernambuco state, Brazil. Participants  37 children with probable or confirmed congenital Zika syndrome during the microcephaly outbreak in 2015 who underwent brain CT shortly after birth and at one year follow-up. Main outcome measure  Differences in cerebral calcification patterns between initial and follow-up scans. Results  37 children were evaluated. All presented cerebral calcifications on the initial scan, predominantly at cortical-white matter junction. At follow-up the calcifications had diminished in number, size, or density, or a combination in 34 of the children (92%, 95% confidence interval 79% to 97%), were no longer visible in one child, and remained unchanged in two children. No child showed an increase in calcifications. The calcifications at the cortical-white matter junction which were no longer visible at follow-up occurred predominately in the parietal and occipital lobes. These imaging changes were not associated with any clear clinical improvements. Conclusion  The detection of cerebral calcifications should not be considered a major criterion for late diagnosis of congenital Zika syndrome, nor should the absence of calcifications be used to exclude the diagnosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Mapping cortical mesoscopic networks of single spiking cortical or sub-cortical neurons.

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Xiao, Dongsheng; Vanni, Matthieu P; Mitelut, Catalin C; Chan, Allen W; LeDue, Jeffrey M; Xie, Yicheng; Chen, Andrew Cn; Swindale, Nicholas V; Murphy, Timothy H

2017-02-04

Understanding the basis of brain function requires knowledge of cortical operations over wide-spatial scales, but also within the context of single neurons. In vivo, wide-field GCaMP imaging and sub-cortical/cortical cellular electrophysiology were used in mice to investigate relationships between spontaneous single neuron spiking and mesoscopic cortical activity. We make use of a rich set of cortical activity motifs that are present in spontaneous activity in anesthetized and awake animals. A mesoscale spike-triggered averaging procedure allowed the identification of motifs that are preferentially linked to individual spiking neurons by employing genetically targeted indicators of neuronal activity. Thalamic neurons predicted and reported specific cycles of wide-scale cortical inhibition/excitation. In contrast, spike-triggered maps derived from single cortical neurons yielded spatio-temporal maps expected for regional cortical consensus function. This approach can define network relationships between any point source of neuronal spiking and mesoscale cortical maps.

Morphometric Changes in the Cortical Microvascular Network in Alzheimer's Disease

NARCIS (Netherlands)

Richard, E.; van Gool, W.A.; Hoozemans, J.J.M.; van Haastert, E.S.; Eikelenboom, P.; Rozemuller, A.J.M.; van de Berg, W.D.J.

2010-01-01

Alzheimer's disease (AD) pathology is accompanied by abnormalities of the microvasculature. Despite the potential importance of morphometric changes in the cortical capillary network on neuronal dysfunction and cognitive impairment, few autopsy studies have addressed this issue. In the present

 Cortical Atrophy is Associated with Accelerated Cognitive Decline in Mild Cognitive Impairment with Subsyndromal Depression.

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Gonzales, Mitzi M; Insel, Philip S; Nelson, Craig; Tosun, Duygu; Mattsson, Niklas; Mueller, Susanne G; Sacuiu, Simona; Bickford, David; Weiner, Michael W; Mackin, R Scott

2017-09-01

To investigate the association between cognitive decline and cortical atrophy in individuals with mild cognitive impairment (MCI) and chronic subsyndromal symptoms of depression (SSD) over a 4-year period. Prospective cohort study. Multicenter, clinic-based. Within the Alzheimer's Disease Neuroimaging Initiative repository, the Neuropsychiatric Inventory was used to identify individuals with MCI and stable endorsement (SSD group N = 32) or no endorsement (non-SSD group N = 69) of depressive symptoms across time points. Repeated measures of cognitive outcomes, cortical atrophy, and their associations were evaluated with mixed effects models adjusting for age, education, sex, and APOE genotype. The SSD group demonstrated accelerated decline on measures of global cognition (Alzheimer Disease Assessment Scale; df = 421, t = 2.242, p = 0.025), memory (Wechsler Memory Scale-Revised Logical Memory II; df = 244, t = -2.525, p = 0.011), information processing speed (Trail Making Test Parts A [df = 421, t = 2.376, p = 0.018] and B [df = 421, t = 2.533, p = 0.012]), and semantic fluency (Category Fluency; df = 424, t = -2.418, p = 0.016), as well as accelerated frontal lobe (df = 341, t = -2.648, p = 0.008) and anterior cingulate (df = 341, t = -3.786, p confrontation naming or for rate of atrophy in any other regions. Accelerated frontal lobe and anterior cingulate atrophy was associated with cognitive decline on measures of global cognition, information processing speed, and semantic fluency (all p < 0.05), but not memory. Individuals with chronic SSD may represent an MCI subgroup that is highly vulnerable to accelerated cognitive decline, an effect that may be governed by frontal lobe and anterior cingulate atrophy. Published by Elsevier Inc.

Motor cortex stimulation does not lead to functional recovery after experimental cortical injury in rats.

Science.gov (United States)

Schönfeld, Lisa-Maria; Jahanshahi, Ali; Lemmens, Evi; Bauwens, Matthias; Hescham, Sarah-Anna; Schipper, Sandra; Lagiere, Melanie; Hendrix, Sven; Temel, Yasin

2017-01-01

Motor impairments are among the major complications that develop after cortical damage caused by either stroke or traumatic brain injury. Motor cortex stimulation (MCS) can improve motor functions in animal models of stroke by inducing neuroplasticity. In the current study, the therapeutic effect of chronic MCS was assessed in a rat model of severe cortical damage. A controlled cortical impact (CCI) was applied to the forelimb area of the motor cortex followed by implantation of a flat electrode covering the lesioned area. Forelimb function was assessed using the Montoya staircase test and the cylinder test before and after a period of chronic MCS. Furthermore, the effect of MCS on tissue metabolism and lesion size was measured using [18F]-fluorodesoxyglucose (FDG) μPET scanning. CCI caused a considerable lesion at the level of the motor cortex and dorsal striatum together with a long-lasting behavioral phenotype of forelimb impairment. However, MCS applied to the CCI lesion did not lead to any improvement in limb functioning when compared to non-stimulated control rats. Also, MCS neither changed lesion size nor distribution of FDG. The use of MCS as a standalone treatment did not improve motor impairments in a rat model of severe cortical damage using our specific treatment modalities.

The enemy within: propagation of aberrant corticostriatal learning to cortical function in Parkinson's disease

Directory of Open Access Journals (Sweden)

Jeff A Beeler

2013-09-01

Full Text Available Motor dysfunction in Parkinson’s disease is believed to arise primarily from pathophysiology in the dorsal striatum and its related corticostriatal and thalamostriatal circuits during progressive dopamine denervation. One function of these circuits is to provide a filter that selectively facilitates or inhibits cortical activity to optimize cortical processing, making motor responses rapid and efficient. Corticostriatal synaptic plasticity mediates the learning that underlies this performance-optimizing filter. Under dopamine denervation, corticostriatal plasticity is altered, resulting in aberrant learning that induces inappropriate basal ganglia filtering that impedes rather than optimizes cortical processing. Human imaging suggests that increased cortical activity may compensate for striatal dysfunction in PD patients. In this Perspective article, we consider how aberrant learning at corticostriatal synapses may impair cortical processing and learning and undermine potential cortical compensatory mechanisms. Blocking or remediating aberrant corticostriatal plasticity may protect cortical function and support cortical compensatory mechanisms mitigating the functional decline associated with progressive dopamine denervation.

Cortical disconnection of the ipsilesional primary motor cortex is associated with gait speed and upper extremity motor impairment in chronic left hemispheric stroke.

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Peters, Denise M; Fridriksson, Julius; Stewart, Jill C; Richardson, Jessica D; Rorden, Chris; Bonilha, Leonardo; Middleton, Addie; Gleichgerrcht, Ezequiel; Fritz, Stacy L

2018-01-01

Advances in neuroimaging have enabled the mapping of white matter connections across the entire brain, allowing for a more thorough examination of the extent of white matter disconnection after stroke. To assess how cortical disconnection contributes to motor impairments, we examined the relationship between structural brain connectivity and upper and lower extremity motor function in individuals with chronic stroke. Forty-three participants [mean age: 59.7 (±11.2) years; time poststroke: 64.4 (±58.8) months] underwent clinical motor assessments and MRI scanning. Nonparametric correlation analyses were performed to examine the relationship between structural connectivity amid a subsection of the motor network and upper/lower extremity motor function. Standard multiple linear regression analyses were performed to examine the relationship between cortical necrosis and disconnection of three main cortical areas of motor control [primary motor cortex (M1), premotor cortex (PMC), and supplementary motor area (SMA)] and motor function. Anatomical connectivity between ipsilesional M1/SMA and the (1) cerebral peduncle, (2) thalamus, and (3) red nucleus were significantly correlated with upper and lower extremity motor performance (P ≤ 0.003). M1-M1 interhemispheric connectivity was also significantly correlated with gross manual dexterity of the affected upper extremity (P = 0.001). Regression models with M1 lesion load and M1 disconnection (adjusted for time poststroke) explained a significant amount of variance in upper extremity motor performance (R 2  = 0.36-0.46) and gait speed (R 2  = 0.46), with M1 disconnection an independent predictor of motor performance. Cortical disconnection, especially of ipsilesional M1, could significantly contribute to variability seen in locomotor and upper extremity motor function and recovery in chronic stroke. Hum Brain Mapp 39:120-132, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Prominent microglial activation in cortical white matter is selectively associated with cortical atrophy in primary progressive aphasia.

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Ohm, Daniel T; Kim, Garam; Gefen, Tamar; Rademaker, Alfred; Weintraub, Sandra; Bigio, Eileen; Mesulam, M-Marsel; Rogalski, Emily; Geula, Changiz

2018-04-21

Primary progressive aphasia (PPA) is a clinical syndrome characterized by selective language impairments associated with focal cortical atrophy favouring the language dominant hemisphere. PPA is associated with Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD), and significant accumulation of activated microglia. Activated microglia can initiate an inflammatory cascade that may contribute to neurodegeneration, but their quantitative distribution in cortical white matter and their relationship with cortical atrophy are unknown. We investigated white matter activated microglia and their association with grey matter atrophy in 10 PPA cases with either AD or FTLD-TDP pathology. Activated microglia were quantified with optical density measures of HLA-DR immunoreactivity in two regions with peak cortical atrophy, and one non-atrophied region within the language dominant hemisphere of each PPA case. Non-atrophied contralateral homologues of the language dominant regions were examined for hemispheric asymmetry. Qualitatively, greater densities of activated microglia were observed in cortical white matter when compared to grey matter. Quantitative analyses revealed significantly greater densities of activated microglia in the white matter of atrophied regions compared to non-atrophied regions in the language dominant hemisphere (p<0.05). Atrophied regions of the language dominant hemisphere also showed significantly more activated microglia compared to contralateral homologues (p<0.05). White matter activated microglia accumulate more in atrophied regions in the language dominant hemisphere of PPA. While microglial activation may constitute a response to neurodegenerative processes in white matter, the resultant inflammatory processes may also exacerbate disease progression and contribute to cortical atrophy. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Differential impact of partial cortical blindness on gaze strategies when sitting and walking - an immersive virtual reality study.

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Iorizzo, Dana B; Riley, Meghan E; Hayhoe, Mary; Huxlin, Krystel R

2011-05-25

The present experiments aimed to characterize the visual performance of subjects with long-standing, unilateral cortical blindness when walking in a naturalistic, virtual environment. Under static, seated testing conditions, cortically blind subjects are known to exhibit compensatory eye movement strategies. However, they still complain of significant impairment in visual detection during navigation. To assess whether this is due to a change in compensatory eye movement strategy between sitting and walking, we measured eye and head movements in subjects asked to detect peripherally-presented, moving basketballs. When seated, cortically blind subjects detected ∼80% of balls, while controls detected almost all balls. Seated blind subjects did not make larger head movements than controls, but they consistently biased their fixation distribution towards their blind hemifield. When walking, head movements were similar in the two groups, but the fixation bias decreased to the point that fixation distribution in cortically blind subjects became similar to that in controls - with one major exception: at the time of basketball appearance, walking controls looked primarily at the far ground, in upper quadrants of the virtual field of view; cortically blind subjects looked significantly more at the near ground, in lower quadrants of the virtual field. Cortically blind subjects detected only 58% of the balls when walking while controls detected ∼90%. Thus, the adaptive gaze strategies adopted by cortically blind individuals as a compensation for their visual loss are strongest and most effective when seated and stationary. Walking significantly alters these gaze strategies in a way that seems to favor walking performance, but impairs peripheral target detection. It is possible that this impairment underlies the experienced difficulty of those with cortical blindness when navigating in real life. Copyright © 2011 Elsevier Ltd. All rights reserved.

Meaningful modalities : Stimulating the use of tactile-bodily interaction and communication in everyday situations with persons who are congenitally deafblind and their communication partners

NARCIS (Netherlands)

Huiskens, Hermelinde

2015-01-01

The dual sensory impairment that characterizes congenital deafblindness, confronts communication partners of persons who are congenitally deafblind with serious challenges regarding interaction and communication. In order to create interaction and communication in everyday practice, communication

Congenital anomalies of the spine: radiologic findings

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

2003-04-01

Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

Automated Volumetry and Regional Thickness Analysis of Hippocampal Subfields and Medial Temporal Cortical Structures in Mild Cognitive Impairment

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Yushkevich, Paul A.; Pluta, John B.; Wang, Hongzhi; Xie, Long; Ding, Song-Lin; Gertje, E. C.; Mancuso, Lauren; Kliot, Daria; Das, Sandhitsu R.; Wolk, David A.

2014-01-01

We evaluate a fully automatic technique for labeling hippocampal subfields and cortical subregions in the medial temporal lobe (MTL) in in vivo 3 Tesla MRI. The method performs segmentation on a T2-weighted MRI scan with 0.4 × 0.4 × 2.0 mm3 resolution, partial brain coverage, and oblique orientation. Hippocampal subfields, entorhinal cortex, and perirhinal cortex are labeled using a pipeline that combines multi-atlas label fusion and learning-based error correction. In contrast to earlier work on automatic subfield segmentation in T2-weighted MRI (Yushkevich et al., 2010), our approach requires no manual initialization, labels hippocampal subfields over a greater anterior-posterior extent, and labels the perirhinal cortex, which is further subdivided into Brodmann areas 35 and 36. The accuracy of the automatic segmentation relative to manual segmentation is measured using cross-validation in 29 subjects from a study of amnestic Mild Cognitive Impairment (aMCI), and is highest for the dentate gyrus (Dice coefficient is 0.823), CA1 (0.803), perirhinal cortex (0.797) and entorhinal cortex (0.786) labels. A larger cohort of 83 subjects is used to examine the effects of aMCI in the hippocampal region using both subfield volume and regional subfield thickness maps. Most significant differences between aMCI and healthy aging are observed bilaterally in the CA1 subfield and in the left Brodmann area 35. Thickness analysis results are consistent with volumetry, but provide additional regional specificity and suggest non-uniformity in the effects of aMCI on hippocampal subfields and MTL cortical subregions. PMID:25181316

Childhood Hearing Impairment: How Do Parents Feel About It ...

African Journals Online (AJOL)

-Briggs. Abstract. Background Hearing impairment or deafness is a major disabling condition worldwide. Etiology of the hearing loss range from congenital to acquired, and includes common and preventable childhood infections like otitis ...

Processing of emotional faces in congenital amusia: An emotional music priming event-related potential study.

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Zhishuai, Jin; Hong, Liu; Daxing, Wu; Pin, Zhang; Xuejing, Lu

2017-01-01

Congenital amusia is characterized by lifelong impairments in music perception and processing. It is unclear whether pitch detection deficits impact amusic individuals' perception of musical emotion. In the current work, 19 amusics and 21 healthy controls were subjected to electroencephalography (EEG) while being exposed to music excerpts and emotional faces. We assessed each individual's ability to discriminate positive- and negative-valenced emotional faces and analyzed electrophysiological indices, in the form of event-related potentials (ERPs) recorded at 32 sites, following exposure to emotionally positive or negative music excerpts. We observed smaller N2 amplitudes in response to facial expressions in the amusia group than in the control group, suggesting that amusics were less affected by the musical stimuli. The late-positive component (LPC) in amusics was similar to that in controls. Our results suggest that the neurocognitive deficit characteristic of congenital amusia is fundamentally an impairment in musical information processing rather than an impairment in emotional processing.

Processing of emotional faces in congenital amusia: An emotional music priming event-related potential study

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Jin Zhishuai

2017-01-01

Full Text Available Congenital amusia is characterized by lifelong impairments in music perception and processing. It is unclear whether pitch detection deficits impact amusic individuals' perception of musical emotion. In the current work, 19 amusics and 21 healthy controls were subjected to electroencephalography (EEG while being exposed to music excerpts and emotional faces. We assessed each individual's ability to discriminate positive- and negative-valenced emotional faces and analyzed electrophysiological indices, in the form of event-related potentials (ERPs recorded at 32 sites, following exposure to emotionally positive or negative music excerpts. We observed smaller N2 amplitudes in response to facial expressions in the amusia group than in the control group, suggesting that amusics were less affected by the musical stimuli. The late-positive component (LPC in amusics was similar to that in controls. Our results suggest that the neurocognitive deficit characteristic of congenital amusia is fundamentally an impairment in musical information processing rather than an impairment in emotional processing.

Congenital amusia: a group study of adults afflicted with a music-specific disorder.

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Ayotte, Julie; Peretz, Isabelle; Hyde, Krista

2002-02-01

The condition of congenital amusia, commonly known as tone-deafness, has been described for more than a century, but has received little empirical attention. In the present study, a research effort has been made to document in detail the behavioural manifestations of congenital amusia. A group of 11 adults, fitting stringent criteria of musical disabilities, were examined in a series of tests originally designed to assess the presence and specificity of musical disorders in brain-damaged patients. The results show that congenital amusia is related to severe deficiencies in processing pitch variations. The deficit extends to impairments in music memory and recognition as well as in singing and the ability to tap in time to music. Interestingly, the disorder appears specific to the musical domain. Congenital amusical individuals process and recognize speech, including speech prosody, common environmental sounds and human voices, as well as control subjects. Thus, the present study convincingly demonstrates the existence of congenital amusia as a new class of learning disabilities that affect musical abilities.

Shortened cortical silent period in adductor spasmodic dysphonia: evidence for widespread cortical excitability.

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Samargia, Sharyl; Schmidt, Rebekah; Kimberley, Teresa Jacobson

2014-02-07

The purpose of this study was to compare cortical inhibition in the hand region of the primary motor cortex between subjects with focal hand dystonia (FHD), adductor spasmodic dysphonia (AdSD), and healthy controls. Data from 28 subjects were analyzed (FHD n=11, 53.25 ± 8.74 y; AdSD: n=8, 56.38 ± 7.5 y; and healthy controls: n=941.67 ± 10.85 y). All subjects received single pulse TMS to the left motor cortex to measure cortical silent period (CSP) in the right first dorsal interosseus (FDI) muscle. Duration of the CSP was measured and compared across groups. A one-way ANCOVA with age as a covariate revealed a significant group effect (p<0.001). Post hoc analysis revealed significantly longer CSP duration in the healthy group vs. AdSD group (p<0.001) and FHD group (p<0.001). These results suggest impaired intracortical inhibition is a neurophysiologic characteristic of FHD and AdSD. In addition, the shortened CSP in AdSD provides evidence to support a widespread decrease in cortical inhibition in areas of the motor cortex that represent an asymptomatic region of the body. These findings may inform future investigations of differential diagnosis as well as alternative treatments for focal dystonias. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Bipolar disorder type I and II show distinct relationships between cortical thickness and executive function.

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Abé, C; Rolstad, S; Petrovic, P; Ekman, C-J; Sparding, T; Ingvar, M; Landén, M

2018-06-15

Frontal cortical abnormalities and executive function impairment co-occur in bipolar disorder. Recent studies have shown that bipolar subtypes differ in the degree of structural and functional impairments. The relationships between cognitive performance and cortical integrity have not been clarified and might differ across patients with bipolar disorder type I, II, and healthy subjects. Using a vertex-wise whole-brain analysis, we investigated how cortical integrity, as measured by cortical thickness, correlates with executive performance in patients with bipolar disorder type I, II, and controls (N = 160). We found focal associations between executive function and cortical thickness in the medial prefrontal cortex in bipolar II patients and controls, but not in bipolar I disorder. In bipolar II patients, we observed additional correlations in lateral prefrontal and occipital regions. Our findings suggest that bipolar disorder patients show altered structure-function relationships, and importantly that those relationships may differ between bipolar subtypes. The findings are line with studies suggesting subtype-specific neurobiological and cognitive profiles. This study contributes to a better understanding of brain structure-function relationships in bipolar disorder and gives important insights into the neuropathophysiology of diagnostic subtypes. © 2018 The Authors Acta Psychiatrica Scandinavica Published by John Wiley & Sons Ltd.

Deficits in long-term recognition memory reveal dissociated subtypes in congenital prosopagnosia.

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Rainer Stollhoff

Full Text Available The study investigates long-term recognition memory in congenital prosopagnosia (CP, a lifelong impairment in face identification that is present from birth. Previous investigations of processing deficits in CP have mostly relied on short-term recognition tests to estimate the scope and severity of individual deficits. We firstly report on a controlled test of long-term (one year recognition memory for faces and objects conducted with a large group of participants with CP. Long-term recognition memory is significantly impaired in eight CP participants (CPs. In all but one case, this deficit was selective to faces and didn't extend to intra-class recognition of object stimuli. In a test of famous face recognition, long-term recognition deficits were less pronounced, even after accounting for differences in media consumption between controls and CPs. Secondly, we combined test results on long-term and short-term recognition of faces and objects, and found a large heterogeneity in severity and scope of individual deficits. Analysis of the observed heterogeneity revealed a dissociation of CP into subtypes with a homogeneous phenotypical profile. Thirdly, we found that among CPs self-assessment of real-life difficulties, based on a standardized questionnaire, and experimentally assessed face recognition deficits are strongly correlated. Our results demonstrate that controlled tests of long-term recognition memory are needed to fully assess face recognition deficits in CP. Based on controlled and comprehensive experimental testing, CP can be dissociated into subtypes with a homogeneous phenotypical profile. The CP subtypes identified align with those found in prosopagnosia caused by cortical lesions; they can be interpreted with respect to a hierarchical neural system for face perception.

Deficits in long-term recognition memory reveal dissociated subtypes in congenital prosopagnosia.

Science.gov (United States)

Stollhoff, Rainer; Jost, Jürgen; Elze, Tobias; Kennerknecht, Ingo

2011-01-25

The study investigates long-term recognition memory in congenital prosopagnosia (CP), a lifelong impairment in face identification that is present from birth. Previous investigations of processing deficits in CP have mostly relied on short-term recognition tests to estimate the scope and severity of individual deficits. We firstly report on a controlled test of long-term (one year) recognition memory for faces and objects conducted with a large group of participants with CP. Long-term recognition memory is significantly impaired in eight CP participants (CPs). In all but one case, this deficit was selective to faces and didn't extend to intra-class recognition of object stimuli. In a test of famous face recognition, long-term recognition deficits were less pronounced, even after accounting for differences in media consumption between controls and CPs. Secondly, we combined test results on long-term and short-term recognition of faces and objects, and found a large heterogeneity in severity and scope of individual deficits. Analysis of the observed heterogeneity revealed a dissociation of CP into subtypes with a homogeneous phenotypical profile. Thirdly, we found that among CPs self-assessment of real-life difficulties, based on a standardized questionnaire, and experimentally assessed face recognition deficits are strongly correlated. Our results demonstrate that controlled tests of long-term recognition memory are needed to fully assess face recognition deficits in CP. Based on controlled and comprehensive experimental testing, CP can be dissociated into subtypes with a homogeneous phenotypical profile. The CP subtypes identified align with those found in prosopagnosia caused by cortical lesions; they can be interpreted with respect to a hierarchical neural system for face perception.

Role of hippocampal and prefrontal cortical signaling pathways in dextromethorphan effect on morphine-induced memory impairment in rats.

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Ghasemzadeh, Zahra; Rezayof, Ameneh

2016-02-01

Evidence suggests that dextromethorphan (DM), an NMDA receptor antagonist, induces memory impairment. Considering that DM is widely used in cough-treating medications, and the co-abuse of DM with morphine has recently been reported, the aims of the present study was (1) to investigate whether there is a functional interaction between morphine and DM in passive avoidance learning and (2) to assess the possible role of the hippocampal and prefrontal cortical (PFC) signaling pathways in the effects of the drugs on memory formation. Our findings indicated that post-training or pre-test administration of morphine (2 and 6 mg/kg) or DM (10-30 mg/kg) impaired memory consolidation and retrieval which was associated with the attenuation of the levels of phosphorylated Ca(2+)/calmodulin-dependent protein kinase II (p-CAMKII) and cAMP responsive element-binding protein (p-CREB) in the targeted sites. Moreover, the memory impairment induced by post-training administration of morphine was reversed by pre-test administration of the same dose of morphine or DM (30 mg/kg), indicating state-dependent learning (SDL) and a cross-SDL between the drugs. It is important to note that the levels of p-CAMKII/CAMKII and p-CREB/CREB in the hippocampus and the PFC increased in drugs-induced SDL. In addition, DM administration potentiated morphine-induced SDL which was related to the enhanced levels of hippocampal and PFC CAMKII-CREB signaling pathways. It can be concluded that there is a relationship between the hippocampus and the PFC in the effect of DM and/or morphine on memory retrieval. Moreover, a cross SDL can be induced between the co-administration of DM and morphine. Interestingly, CAMKII-CREB signaling pathways also mediate the drugs-induced SDL. Copyright © 2015 Elsevier Inc. All rights reserved.

Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

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Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L

1983-07-01

Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

Impact of prenatal environmental stress on cortical development

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Seiji eIshii

2015-05-01

Full Text Available Prenatal exposure of the developing brain to various types of environmental stress increases susceptibility to neuropsychiatric disorders such as autism, attention deficit hyperactivity disorder and schizophrenia. Given that even subtle perturbations by prenatal environmental stress in the cerebral cortex impair the cognitive and memory functions, this review focuses on underlying molecular mechanisms of pathological cortical development. We especially highlight recent works that utilized animal exposure models, human specimens or/and induced Pluripotent Stem (iPS cells to demonstrate: 1. molecular mechanisms shared by various types of environmental stressors, 2. the mechanisms by which the affected extracortical tissues indirectly impact the cortical development and function, and 3. interaction between prenatal environmental stress and the genetic predisposition of neuropsychiatric disorders. Finally, we discuss current challenges for achieving a comprehensive understanding of the role of environmentally disturbed molecular expressions in cortical maldevelopment, knowledge of which may eventually facilitate discovery of interventions for prenatal environment-linked neuropsychiatric disorders.

Congenital amusia persists in the developing brain after daily music listening.

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Mignault Goulet, Geneviève; Moreau, Patricia; Robitaille, Nicolas; Peretz, Isabelle

2012-01-01

Congenital amusia is a neurodevelopmental disorder that affects about 3% of the adult population. Adults experiencing this musical disorder in the absence of macroscopically visible brain injury are described as cases of congenital amusia under the assumption that the musical deficits have been present from birth. Here, we show that this disorder can be expressed in the developing brain. We found that (10-13 year-old) children exhibit a marked deficit in the detection of fine-grained pitch differences in both musical and acoustical context in comparison to their normally developing peers comparable in age and general intelligence. This behavioral deficit could be traced down to their abnormal P300 brain responses to the detection of subtle pitch changes. The altered pattern of electrical activity does not seem to arise from an anomalous functioning of the auditory cortex, because all early components of the brain potentials, the N100, the MMN, and the P200 appear normal. Rather, the brain and behavioral measures point to disrupted information propagation from the auditory cortex to other cortical regions. Furthermore, the behavioral and neural manifestations of the disorder remained unchanged after 4 weeks of daily musical listening. These results show that congenital amusia can be detected in childhood despite regular musical exposure and normal intellectual functioning.

Sensitivity of cortical auditory evoked potential detection for hearing-impaired infants in response to short speech sounds

Directory of Open Access Journals (Sweden)

Bram Van Dun

2012-01-01

Full Text Available

Background: Cortical auditory evoked potentials (CAEPs are an emerging tool for hearing aid fitting evaluation in young children who cannot provide reliable behavioral feedback. It is therefore useful to determine the relationship between the sensation level of speech sounds and the detection sensitivity of CAEPs.

Design and methods: Twenty-five sensorineurally hearing impaired infants with an age range of 8 to 30 months were tested once, 18 aided and 7 unaided. First, behavioral thresholds of speech stimuli /m/, /g/, and /t/ were determined using visual reinforcement orientation audiometry (VROA. Afterwards, the same speech stimuli were presented at 55, 65, and 75 dB SPL, and CAEP recordings were made. An automatic statistical detection paradigm was used for CAEP detection.

Results: For sensation levels above 0, 10, and 20 dB respectively, detection sensitivities were equal to 72 ± 10, 75 ± 10, and 78 ± 12%. In 79% of the cases, automatic detection p-values became smaller when the sensation level was increased by 10 dB.

Conclusions: The results of this study suggest that the presence or absence of CAEPs can provide some indication of the audibility of a speech sound for infants with sensorineural hearing loss. The detection of a CAEP provides confidence, to a degree commensurate with the detection probability, that the infant is detecting that sound at the level presented. When testing infants where the audibility of speech sounds has not been established behaviorally, the lack of a cortical response indicates the possibility, but by no means a certainty, that the sensation level is 10 dB or less.

Pattern of Corticospinal Projections Defined by Brain Mapping During Resective Epilepsy Surgery in a Patient with Congenital Hemiparesis and Intractable Epilepsy.

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Yang, Chen-Ya; Chen, Hsin-Hung; Chen, Chien; Chiu, Jan-Wei; Chou, Chen-Liang; Yang, Tsui-Fen

2017-11-01

Congenital or early-onset brain structural lesions often cause contralateral hemiparesis, cognitive deficits, developmental delays, and seizures. Seizure is the most debilitating condition, as it greatly impairs quality of life in both the affected individuals and their caregivers and prevents them from active social participation. A 34-year-old man with hemiparesis and early-onset seizures since childhood owing to a congenital brain lesion developed intractable seizures in the last 2 years and was subsequently admitted for resective epileptic surgery. During the operation, we employed an innovative intraoperative neurophysiologic monitoring technique. In contrast to routine application for transcranial stimulation, we recorded compound muscle action potentials over the bilateral limb muscles simultaneously, instead of over the contralateral muscles only, to determine the patterns of the corticospinal projections. Transcranial stimulation over the bilateral hemispheres was applied before craniotomy, and direct cortical stimulation over the lesioned hemisphere was applied after craniotomy. By integrating both approaches, we could first identify the pattern of corticospinal projections before craniotomy and then accurately define the noneloquent area, which guided the resection to successfully accomplish the surgical goal. This technique is simple because no patient participation is required. We believe that it has the potential to replace conventional preoperative functional magnetic resonance imaging and transcranial magnetic stimulation in resective epilepsy surgery, particularly for young patients. Not only can it improve the safety of surgical procedures, but also it can help predict functional outcome. Copyright © 2017 Elsevier Inc. All rights reserved.

Fractionating the musical mind: insights from congenital amusia.

Science.gov (United States)

Stewart, Lauren

2008-04-01

Music, like language, is acquired effortlessly in early life and fulfils a multitude of social, cultural and emotional functions. However, those with a disorder recently termed 'congenital amusia' (CA) fail to recognise common tunes from their culture, do not hear when notes are 'out of tune' and sometimes report that music sounds like a 'din' or 'banging'. The core deficit appears to be a problem in discriminating pitch direction, a building block for the representation of melodic contour. Familial studies suggest the disorder is heritable and associated with structural differences in temporal and frontal cortices. The disorder provides a window onto the neuro-cognitive architecture of musical processing, and the possible etiologies of disordered development.

Orthodontic Management of Congenitally Missing Maxillary Lateral Incisors: A Case Report

OpenAIRE

Paduano, Sergio; Cioffi, Iacopo; Rongo, Roberto; Cupo, Antonello; Bucci, Rosaria; Valletta, Rosa

2014-01-01

This case report describes the orthodontic treatment of a woman, aged 15 years, with permanent dentition, brachyfacial typology, with congenitally missing maxillary lateral incisors. Multibracket straightwire fixed appliance was used to open the space for dental implant placement, and treat the impaired occlusion. The missing lateral incisors were substituted with oral implants.

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

OpenAIRE

Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

2001-01-01

A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of i...

Mediterranean diet, micronutrients and macronutrients, and MRI measures of cortical thickness.

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Staubo, Sara C; Aakre, Jeremiah A; Vemuri, Prashanthi; Syrjanen, Jeremy A; Mielke, Michelle M; Geda, Yonas E; Kremers, Walter K; Machulda, Mary M; Knopman, David S; Petersen, Ronald C; Jack, Clifford R; Roberts, Rosebud O

2017-02-01

The Mediterranean diet (MeDi) is associated with reduced risk of cognitive impairment, but it is unclear whether it is associated with better brain imaging biomarkers. Among 672 cognitively normal participants (mean age, 79.8 years, 52.5% men), we investigated associations of MeDi score and MeDi components with magnetic resonance imaging measures of cortical thickness for the four lobes separately and averaged (average lobar). Higher MeDi score was associated with larger frontal, parietal, occipital, and average lobar cortical thickness. Higher legume and fish intakes were associated with larger cortical thickness: legumes with larger superior parietal, inferior parietal, precuneus, parietal, occipital, lingual, and fish with larger precuneus, superior parietal, posterior cingulate, parietal, and inferior parietal. Higher carbohydrate and sugar intakes were associated with lower entorhinal cortical thickness. In this sample of elderly persons, higher adherence to MeDi was associated with larger cortical thickness. These cross-sectional findings require validation in prospective studies. Copyright © 2016 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Metabolic mapping of the effects of the antidepressant fluoxetine on the brains of congenitally helpless rats

OpenAIRE

Shumake, Jason; Colorado, Rene A.; Barrett, Douglas W.; Gonzalez-Lima, F.

2010-01-01

Antidepressants require adaptive brain changes before efficacy is achieved, and they may impact the affectively disordered brain differently than the normal brain. We previously demonstrated metabolic disturbances in limbic and cortical regions of the congenitally helpless rat, a model of susceptibility to affective disorder, and we wished to test whether administration of fluoxetine would normalize these metabolic differences. Fluoxetine was chosen because it has become a first-line drug for...

Congenital toxoplasmosis and prenatal care state programs

Science.gov (United States)

2014-01-01

Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

Mitochondrial dysfunction precedes depression of AMPK/AKT signaling in insulin resistance induced by high glucose in primary cortical neurons.

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Peng, Yunhua; Liu, Jing; Shi, Le; Tang, Ying; Gao, Dan; Long, Jiangang; Liu, Jiankang

2016-06-01

Recent studies have demonstrated brain insulin signaling impairment and mitochondrial dysfunction in diabetes. Hyperinsulinemia and hyperlipidemia arising from diabetes have been linked to neuronal insulin resistance, and hyperglycemia induces peripheral sensory neuronal impairment and mitochondrial dysfunction. However, how brain glucose at diabetic conditions elicits cortical neuronal insulin signaling impairment and mitochondrial dysfunction remains unknown. In the present study, we cultured primary cortical neurons with high glucose levels and investigated the neuronal mitochondrial function and insulin response. We found that mitochondrial function was declined in presence of 10 mmol/L glucose, prior to the depression of AKT signaling in primary cortical neurons. We further demonstrated that the cerebral cortex of db/db mice exhibited both insulin resistance and loss of mitochondrial complex components. Moreover, we found that adenosine monophosphate-activated protein kinase (AMPK) inactivation is involved in high glucose-induced mitochondrial dysfunction and insulin resistance in primary cortical neurons and neuroblastoma cells, as well as in cerebral cortex of db/db mice, and all these impairments can be rescued by mitochondrial activator, resveratrol. Taken together, our results extend the finding that high glucose (≥10 mmol/L) comparable to diabetic brain extracellular glucose level leads to neuronal mitochondrial dysfunction and resultant insulin resistance, and targeting mitochondria-AMPK signaling might be a promising strategy to protect against diabetes-related neuronal impairment in central nerves system. We found that high glucose (≥10 mmol/L), comparable to diabetic brain extracellular glucose level, leads to neuronal mitochondrial dysfunction and resultant insulin resistance in an AMPK-dependent manner, and targeting mitochondria-AMPK signaling might be a promising strategy to protect against diabetes-related neuronal impairment in central

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

Disrupted cortical connectivity theory as an explanatory model for autism spectrum disorders

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Kana, Rajesh K.; Libero, Lauren E.; Moore, Marie S.

2011-12-01

Recent findings of neurological functioning in autism spectrum disorder (ASD) point to altered brain connectivity as a key feature of its pathophysiology. The cortical underconnectivity theory of ASD (Just et al., 2004) provides an integrated framework for addressing these new findings. This theory suggests that weaker functional connections among brain areas in those with ASD hamper their ability to accomplish complex cognitive and social tasks successfully. We will discuss this theory, but will modify the term underconnectivity to ‘disrupted cortical connectivity’ to capture patterns of both under- and over-connectivity in the brain. In this paper, we will review the existing literature on ASD to marshal supporting evidence for hypotheses formulated on the disrupted cortical connectivity theory. These hypotheses are: 1) underconnectivity in ASD is manifested mainly in long-distance cortical as well as subcortical connections rather than in short-distance cortical connections; 2) underconnectivity in ASD is manifested only in complex cognitive and social functions and not in low-level sensory and perceptual tasks; 3) functional underconnectivity in ASD may be the result of underlying anatomical abnormalities, such as problems in the integrity of white matter; 4) the ASD brain adapts to underconnectivity through compensatory strategies such as overconnectivity mainly in frontal and in posterior brain areas. This may be manifested as deficits in tasks that require frontal-parietal integration. While overconnectivity can be tested by examining the cortical minicolumn organization, long-distance underconnectivity can be tested by cognitively demanding tasks; and 5) functional underconnectivity in brain areas in ASD will be seen not only during complex tasks but also during task-free resting states. We will also discuss some empirical predictions that can be tested in future studies, such as: 1) how disrupted connectivity relates to cognitive impairments in skills

Orthodontic Management of Congenitally Missing Maxillary Lateral Incisors: A Case Report

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Sergio Paduano

2014-01-01

Full Text Available This case report describes the orthodontic treatment of a woman, aged 15 years, with permanent dentition, brachyfacial typology, with congenitally missing maxillary lateral incisors. Multibracket straightwire fixed appliance was used to open the space for dental implant placement, and treat the impaired occlusion. The missing lateral incisors were substituted with oral implants.

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

Science.gov (United States)

van der Linden, Vanessa; Pessoa, André; Dobyns, William; Barkovich, A James; Júnior, Hélio van der Linden; Filho, Epitacio Leite Rolim; Ribeiro, Erlane Marques; Leal, Mariana de Carvalho; Coimbra, Pablo Picasso de Araújo; Aragão, Maria de Fátima Viana Vasco; Verçosa, Islane; Ventura, Camila; Ramos, Regina Coeli; Cruz, Danielle Di Cavalcanti Sousa; Cordeiro, Marli Tenório; Mota, Vivian Maria Ribeiro; Dott, Mary; Hillard, Christina; Moore, Cynthia A

2016-12-02

Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted. All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was documented to have decelerated as early as 5 months of age, and 11 infants had microcephaly. These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. These findings support the recommendation for comprehensive medical and developmental follow-up of infants exposed to Zika virus prenatally. Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference (4).

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

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Schneider, Eberhard; Märker, Tina; Daser, Angelika; Frey-Mahn, Gabriele; Beyer, Vera; Farcas, Ruxandra; Schneider-Rätzke, Brigitte; Kohlschmidt, Nicolai; Grossmann, Bärbel; Bauss, Katharina; Napiontek, Ulrike; Keilmann, Annerose; Bartsch, Oliver; Zechner, Ulrich; Wolfrum, Uwe; Haaf, Thomas

2009-02-15

A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupting the open reading frame of transcript PDZD7-C (without PDZ domain) and the 5'-untranslated region of transcript PDZD7-D (with one PDZ and two prolin-rich domains). The chromosome 11 breakpoint was localized in an intergenic segment. Reverse transcriptase-polymerase chain reaction analysis revealed PDZD7 expression in the human inner ear. A murine Pdzd7 transcript that is most similar in structure to human PDZD7-D is known to be expressed in the adult inner ear and retina. PDZD7 shares sequence homology with the PDZ domain-containing genes, USH1C (harmonin) and DFNB31 (whirlin). Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). Protein-protein interaction assays revealed the integration of PDZD7 in the protein network related to the human Usher syndrome. Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome.

Visual Dysfunction in Posterior Cortical Atrophy

Science.gov (United States)

Maia da Silva, Mari N.; Millington, Rebecca S.; Bridge, Holly; James-Galton, Merle; Plant, Gordon T.

2017-01-01

Posterior cortical atrophy (PCA) is a syndromic diagnosis. It is characterized by progressive impairment of higher (cortical) visual function with imaging evidence of degeneration affecting the occipital, parietal, and posterior temporal lobes bilaterally. Most cases will prove to have Alzheimer pathology. The aim of this review is to summarize the development of the concept of this disorder since it was first introduced. A critical discussion of the evolving diagnostic criteria is presented and the differential diagnosis with regard to the underlying pathology is reviewed. Emphasis is given to the visual dysfunction that defines the disorder, and the classical deficits, such as simultanagnosia and visual agnosia, as well as the more recently recognized visual field defects, are reviewed, along with the evidence on their neural correlates. The latest developments on the imaging of PCA are summarized, with special attention to its role on the differential diagnosis with related conditions. PMID:28861031

Visual Dysfunction in Posterior Cortical Atrophy

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Mari N. Maia da Silva

2017-08-01

Full Text Available Posterior cortical atrophy (PCA is a syndromic diagnosis. It is characterized by progressive impairment of higher (cortical visual function with imaging evidence of degeneration affecting the occipital, parietal, and posterior temporal lobes bilaterally. Most cases will prove to have Alzheimer pathology. The aim of this review is to summarize the development of the concept of this disorder since it was first introduced. A critical discussion of the evolving diagnostic criteria is presented and the differential diagnosis with regard to the underlying pathology is reviewed. Emphasis is given to the visual dysfunction that defines the disorder, and the classical deficits, such as simultanagnosia and visual agnosia, as well as the more recently recognized visual field defects, are reviewed, along with the evidence on their neural correlates. The latest developments on the imaging of PCA are summarized, with special attention to its role on the differential diagnosis with related conditions.

Testicular Growth During Puberty in Boys With and Without a History of Congenital Cryptorchidism

DEFF Research Database (Denmark)

Sadov, Sergey; Koskenniemi, Jaakko J; Virtanen, Helena E

2016-01-01

CONTEXT: The pattern of testicular growth during puberty may provide important information about early testicular damage and reproductive potential in adulthood. OBJECTIVE: To evaluate pubertal testicular growth in boys with congenital cryptorchidism and controls. DESIGN: Longitudinal case...... mL by orchidometer and 25 mm by ruler as cut-offs in definition of the onset of puberty. An orchidometer size of 3 mL and ruler length of 25 mm corresponded to 1.6 and 1.7 mL by ultrasound (with Lambert's formula), respectively. CONCLUSIONS: Testicular growth in puberty was impaired in congenitally...

Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

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Nelson Itiro Miyague

2003-03-01

Full Text Available OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4% were diagnosed with congenital heart disease, 201 (4.4% with acquired heart disease, 52 (1.2% with arrhythmias, and 2,268 (50% were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.

Predictive timing functions of cortical beta oscillations are impaired in Parkinson's disease and influenced by L-DOPA and deep brain stimulation of the subthalamic nucleus

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A. Gulberti

2015-01-01

Full Text Available Cortex-basal ganglia circuits participate in motor timing and temporal perception, and are important for the dynamic configuration of sensorimotor networks in response to exogenous demands. In Parkinson's disease (PD patients, rhythmic auditory stimulation (RAS induces motor performance benefits. Hitherto, little is known concerning contributions of the basal ganglia to sensory facilitation and cortical responses to RAS in PD. Therefore, we conducted an EEG study in 12 PD patients before and after surgery for subthalamic nucleus deep brain stimulation (STN-DBS and in 12 age-matched controls. Here we investigated the effects of levodopa and STN-DBS on resting-state EEG and on the cortical-response profile to slow and fast RAS in a passive-listening paradigm focusing on beta-band oscillations, which are important for auditory–motor coupling. The beta-modulation profile to RAS in healthy participants was characterized by local peaks preceding and following auditory stimuli. In PD patients RAS failed to induce pre-stimulus beta increases. The absence of pre-stimulus beta-band modulation may contribute to impaired rhythm perception in PD. Moreover, post-stimulus beta-band responses were highly abnormal during fast RAS in PD patients. Treatment with levodopa and STN-DBS reinstated a post-stimulus beta-modulation profile similar to controls, while STN-DBS reduced beta-band power in the resting-state. The treatment-sensitivity of beta oscillations suggests that STN-DBS may specifically improve timekeeping functions of cortical beta oscillations during fast auditory pacing.

Predictive timing functions of cortical beta oscillations are impaired in Parkinson's disease and influenced by L-DOPA and deep brain stimulation of the subthalamic nucleus.

Science.gov (United States)

Gulberti, A; Moll, C K E; Hamel, W; Buhmann, C; Koeppen, J A; Boelmans, K; Zittel, S; Gerloff, C; Westphal, M; Schneider, T R; Engel, A K

2015-01-01

Cortex-basal ganglia circuits participate in motor timing and temporal perception, and are important for the dynamic configuration of sensorimotor networks in response to exogenous demands. In Parkinson's disease (PD) patients, rhythmic auditory stimulation (RAS) induces motor performance benefits. Hitherto, little is known concerning contributions of the basal ganglia to sensory facilitation and cortical responses to RAS in PD. Therefore, we conducted an EEG study in 12 PD patients before and after surgery for subthalamic nucleus deep brain stimulation (STN-DBS) and in 12 age-matched controls. Here we investigated the effects of levodopa and STN-DBS on resting-state EEG and on the cortical-response profile to slow and fast RAS in a passive-listening paradigm focusing on beta-band oscillations, which are important for auditory-motor coupling. The beta-modulation profile to RAS in healthy participants was characterized by local peaks preceding and following auditory stimuli. In PD patients RAS failed to induce pre-stimulus beta increases. The absence of pre-stimulus beta-band modulation may contribute to impaired rhythm perception in PD. Moreover, post-stimulus beta-band responses were highly abnormal during fast RAS in PD patients. Treatment with levodopa and STN-DBS reinstated a post-stimulus beta-modulation profile similar to controls, while STN-DBS reduced beta-band power in the resting-state. The treatment-sensitivity of beta oscillations suggests that STN-DBS may specifically improve timekeeping functions of cortical beta oscillations during fast auditory pacing.

Characteristics of childhood uveitis leading to visual impairment and blindness in the Netherlands.

Science.gov (United States)

Hettinga, Ymkje M; Verhagen, Fleurieke H; van Genderen, Maria; de Boer, Joke H

2014-12-01

To investigate the clinical characteristics of childhood uveitis leading to visual impairment or blindness. In this descriptive study, we reviewed data from the medical records of 58 children with visual impairment or blindness due to childhood uveitis, which were seen at an institute for visually impaired patients (Bartiméus) between January 1981 and December 2012, in a retrospective, cross-sectional manner. Thirty-two of the 58 children (55%) were visually impaired and 26 (45%) were legally blind. Uveitis was posterior in 76% of all cases. Infectious uveitis represented 74% of all cases, of which 86% was congenital. Five patients (9%) had uveitis related to a systemic disease, and ten patients (17%) had idiopathic uveitis. There was a decrease in infectious causes over the last decades (p = 0.04) and an increase in idiopathic uveitis (p children with posterior uveitis remained constant. There was an overall decrease in the number of children with uveitis referred to Bartiméus. The number of ocular complications at the time of intake was higher in children with acquired disease compared with congenital diseases (p children with non-infectious uveitis compared with infectious uveitis (p = 0.04). Most comorbidities that were noted were seen in children with infectious uveitis. Most patients suffering from visual impairment or blindness due to childhood uveitis had posterior and/or infectious uveitis, mostly congenital. There is a shift in causes which shows a decrease in infectious causes and an increase in idiopathic causes. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

Brain regions associated with cognitive impairment in patients with Parkinson disease: quantitative analysis of cerebral blood flow using 123I iodoamphetamine SPECT.

Science.gov (United States)

Hattori, Naoya; Yabe, Ichiro; Hirata, Kenji; Shiga, Tohru; Sakushima, Ken; Tsuji-Akimoto, Sachiko; Sasaki, Hidenao; Tamaki, Nagara

2013-05-01

Cognitive impairment is a representative neuropsychiatric presentation that accompanies Parkinson disease (PD). The purpose of this study was to localize the cerebral regions associated with cognitive impairment in patients with PD using quantitative SPECT. Thirty-two patients with PD (mean [SD] age, 75 [8] years; 25 women; Hoehn-Yahr scores from 2 to 5) underwent quantitative brain SPECT using 123I iodoamphetamine. Parametric images of regional cerebral blood flow (rCBF) were spatially normalized to the standard brain atlas. First, voxel-by-voxel comparison between patients with PD with versus without cognitive impairment was performed to visualize overall trend of regional differences. Next, the individual quantitative rCBF values were extracted in representative cortical regions using a standard region-of-interest template to compare the quantitative rCBF values. Patients with cognitive impairment showed trends of lower rCBF in the left frontal and temporal cortices as well as in the bilateral medial frontal and anterior cingulate cortices in the voxel-by-voxel analyses. Region-of-interest-based analysis demonstrated significantly lower rCBF in the bilateral anterior cingulate cortices (right, 25.8 [5.5] vs 28.9 [5.7] mL per 100 g/min, P left, 25.8 [5.8] vs 29.1 [5.7] mL per 100 g/min, P left frontal and temporal cortices as well as in the bilateral medial frontal and anterior cingulate cortices. The results suggested dysexecutive function as an underlining mechanism of cognitive impairment in patients with PD.

Dementia with impaired glucose metabolism in late onset metachromatic leukodystrophy

DEFF Research Database (Denmark)

Johannsen, P.; Ehlers, L.; Hansen, Hans Jacob

2001-01-01

and attention deficits with a slow psychomotor speed. MR brain imaging displayed confluent hyperintensities of periventricular and subcortical white matter. Low levels of arylsulfatase A confirmed the diagnosis. Impaired cortical glucose metabolism especially of the medial temporal and frontal cortices...... was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism....

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

NARCIS (Netherlands)

Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; Dharmaraj, S.; Lopez, I.; Ivings, L.; Williams, G.A.; Springell, K.; Woods, C.G.; Jafri, H.; Rashid, Y.; Strom, T.M.; Zwaag, B. van der; Gosens, I.; Kersten, F.F.J.; Wijk, E. van; Veltman, J.A.; Zonneveld, M.N.; Beersum, S.E.C. van; Maumenee, I.H.; Wolfrum, U.; Cheetham, M.E.; Ueffing, M.; Cremers, F.P.M.; Inglehearn, C.F.; Roepman, R.

2007-01-01

Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We

A music perception disorder (congenital amusia) influences speech comprehension.

Science.gov (United States)

Liu, Fang; Jiang, Cunmei; Wang, Bei; Xu, Yi; Patel, Aniruddh D

2015-01-01

This study investigated the underlying link between speech and music by examining whether and to what extent congenital amusia, a musical disorder characterized by degraded pitch processing, would impact spoken sentence comprehension for speakers of Mandarin, a tone language. Sixteen Mandarin-speaking amusics and 16 matched controls were tested on the intelligibility of news-like Mandarin sentences with natural and flat fundamental frequency (F0) contours (created via speech resynthesis) under four signal-to-noise (SNR) conditions (no noise, +5, 0, and -5dB SNR). While speech intelligibility in quiet and extremely noisy conditions (SNR=-5dB) was not significantly compromised by flattened F0, both amusic and control groups achieved better performance with natural-F0 sentences than flat-F0 sentences under moderately noisy conditions (SNR=+5 and 0dB). Relative to normal listeners, amusics demonstrated reduced speech intelligibility in both quiet and noise, regardless of whether the F0 contours of the sentences were natural or flattened. This deficit in speech intelligibility was not associated with impaired pitch perception in amusia. These findings provide evidence for impaired speech comprehension in congenital amusia, suggesting that the deficit of amusics extends beyond pitch processing and includes segmental processing. Copyright © 2014 Elsevier Ltd. All rights reserved.

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

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Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

2001-01-01

A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of intractable diarrhoea in neonates.

 PMID:11668168

Cortical cholinergic hypofunction and behaviorial impairment produced by basal forebrain lesions in the rat

International Nuclear Information System (INIS)

Lerer, B.E.; Friedman, E.; Gamzu, E.

1986-01-01

The authors confirm the cortical ChAT and passive avoidance deficits resulting from bilateral KA lesions of the magnocellular nuclei of the basal forebrain (MNBF). Because of reported passive avoidance deficits, the authors were interested in whether bilateral MNBF lesions would interfere with learning in an active avoidance paradigm. Samples of rat cortex were stored at -80 C until assayed. ChAT was assayed by a modification method under saturating conditions; 20 mM choline and 2 mM C 14-acetylcoenzyme. The behavioral deficits assumed to be indicative of learning and memory problems were accompanied by a 20% decrease in cortical ChAT

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

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Coralie Fassier

2013-01-01

Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP, a heterogeneous group of genetic diseases characterized by degeneration of the corticospinal tracts. We previously reported that mice harboring a deletion in Spg4, generating a premature stop codon, develop progressive axonal degeneration characterized by focal axonal swellings associated with impaired axonal transport. To further characterize the molecular and cellular mechanisms underlying this mutant phenotype, we have assessed microtubule dynamics and axonal transport in primary cultures of cortical neurons from spastin-mutant mice. We show an early and marked impairment of microtubule dynamics all along the axons of spastin-deficient cortical neurons, which is likely to be responsible for the occurrence of axonal swellings and cargo stalling. Our analysis also reveals that a modulation of microtubule dynamics by microtubule-targeting drugs rescues the mutant phenotype of cortical neurons. Together, these results contribute to a better understanding of the pathogenesis of SPG4-linked HSP and ascertain the influence of microtubule-targeted drugs on the early axonal phenotype in a mouse model of the disease.

Congenital amusia persists in the developing brain after daily music listening.

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Geneviève Mignault Goulet

Full Text Available Congenital amusia is a neurodevelopmental disorder that affects about 3% of the adult population. Adults experiencing this musical disorder in the absence of macroscopically visible brain injury are described as cases of congenital amusia under the assumption that the musical deficits have been present from birth. Here, we show that this disorder can be expressed in the developing brain. We found that (10-13 year-old children exhibit a marked deficit in the detection of fine-grained pitch differences in both musical and acoustical context in comparison to their normally developing peers comparable in age and general intelligence. This behavioral deficit could be traced down to their abnormal P300 brain responses to the detection of subtle pitch changes. The altered pattern of electrical activity does not seem to arise from an anomalous functioning of the auditory cortex, because all early components of the brain potentials, the N100, the MMN, and the P200 appear normal. Rather, the brain and behavioral measures point to disrupted information propagation from the auditory cortex to other cortical regions. Furthermore, the behavioral and neural manifestations of the disorder remained unchanged after 4 weeks of daily musical listening. These results show that congenital amusia can be detected in childhood despite regular musical exposure and normal intellectual functioning.

Impairment in visual cognition in patients with Parkinson disease

International Nuclear Information System (INIS)

Hirayama, Kazumi; Ishioka, Toshiyuki

2007-01-01

Neural pathway for visual information processing involves retina, lateral geniculate body, primary visual cortex, and higher visual cortical areas, all of which have been reported to be disordered either functionally or pathologically in Parkinson disease (PD). As elementary visual disorders, there have been studies that reported reduced contrast sensitivity for middle to high spatial frequencies and impaired blue color perception. Most of those studies suggested retina as the damaged cite that is responsible for the impairments, whereas some studies pointed to the possible cortical involvement. Impairments of higher visual functions also have been reported. In the dorsal stream, impairments of object localization, depth perception, and mental rotation have been reported. In the ventral stream, object perception and visual integration of objects have been found to be impaired. A meta-analysis study, however, concluded that although there may be impairments in higher order functions like attention and problem solving capacity there is no firm evidence for the impairments of higher visual functions. Neuroimaging studies have found a relationship between reduced metabolism centered in the parietal lobe and impaired performance in higher visual functions. Impaired identification of overlapping figures has been reported in dementia with Lewy bodies a disease that is akin to PD. Capacity to discriminate textured areas has been found to be damaged in PD. We conducted a fluorodeoxyglucose-positron emission tomography (FDG-PET) study to explore the relationship between brain metabolism and perception of overlapping figures, perception of shapes defined by texture differences and perception of subjective contours in PD. It revealed that there is a correlation between reduced activation in lateral occipital complex and impaired performance for these tasks, suggesting some compromised ventral rout functions. (author)

Using Short-Term Group Counseling with Visually Impaired Adolescents.

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Johnson, C. L., Jr.; Johnson, J. A.

1991-01-01

A group counseling approach was used to enhance the self-concept of 10 congenitally visually impaired adolescents. Group sessions focused on such topics as self-perception, assertiveness, friendship, familial relationships, and independent living skills. Evaluation found significant improvement in self-concept, attitudes toward blindness, and…

Persistent increase in oxygen consumption and impaired neurovascular coupling after spreading depression in rat neocortex.

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Piilgaard, Henning; Lauritzen, Martin

2009-09-01

Cortical spreading depression (CSD) is associated with a dramatic failure of brain ion homeostasis and increased energy metabolism. There is strong clinical and experimental evidence to suggest that CSD is the mechanism of migraine, and involved in progressive neuronal injury in stroke and head trauma. Here we tested the hypothesis that single episodes of CSD induced acute hypoxia, and prolonged impairment of neurovascular and neurometabolic coupling. Cortical spreading depression was induced in rat frontal cortex, whereas cortical electrical activity and local field potentials (LFPs) were recorded by glass microelectrodes, cerebral blood flow (CBF) by laser-Doppler flowmetry, and tissue oxygen tension (tpO(2)) with polarographic microelectrodes. Cortical spreading depression increased cerebral metabolic rate of oxygen (CMRO(2)) by 71%+/-6.7% and CBF by 238%+/-48.1% for 1 to 2 mins. For the following 2 h, basal tpO(2) and CBF were reduced whereas basal CMRO(2) was persistently elevated by 8.1%+/-2.9%. In addition, within first hour after CSD we found impaired neurovascular coupling (LFP versus CBF), whereas neurometabolic coupling (LFP versus CMRO(2)) remained unaffected. Impaired neurovascular coupling was explained by both reduced vascular reactivity and suppressed function of cortical inhibitory interneurons. The protracted effects of CSD on basal CMRO(2) and neurovascular coupling may contribute to cellular dysfunction in patients with migraine and acutely injured cerebral cortex.

78 FR 7659 - Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems

Science.gov (United States)

2013-02-04

.... People with non- mosaic Down syndrome may also have congenital heart disease, impaired vision, hearing..., or interference, as well as the resulting functional limitations and their progression, may vary... senses and speech, neurological, or mental disorders. Otherwise, we evaluate the specific functional...

Hippocampal damage and memory impairment in congenital cyanotic heart disease.

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Muñoz-López, Mónica; Hoskote, Aparna; Chadwick, Martin J; Dzieciol, Anna M; Gadian, David G; Chong, Kling; Banks, Tina; de Haan, Michelle; Baldeweg, Torsten; Mishkin, Mortimer; Vargha-Khadem, Faraneh

2017-04-01

Neonatal hypoxia can lead to hippocampal atrophy, which can lead, in turn, to memory impairment. To test the generalizability of this causal sequence, we examined a cohort of 41 children aged 8-16, who, having received the arterial switch operation to correct for transposition of the great arteries, had sustained significant neonatal cyanosis but were otherwise neurodevelopmentally normal. As predicted, the cohort had significant bilateral reduction of hippocampal volumes relative to the volumes of 64 normal controls. They also had significant, yet selective, impairment of episodic memory as measured by standard tests of memory, despite relatively normal levels of intelligence, academic attainment, and verbal fluency. Across the cohort, degree of memory impairment was correlated with degree of hippocampal atrophy suggesting that even as early as neonatal life no other structure can fully compensate for hippocampal injury and its special role in serving episodic long term memory. © 2017 Wiley Periodicals, Inc. © 2017 The Authors. Hippocampus Published by Wiley Periodicals, Inc.

Risk Factors for Gross Motor Dysfunction in Infants with Congenital Heart Disease

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Long, Suzanne H.; Eldridge, Bev J.; Galea, Mary P.; Harris, Susan R.

2011-01-01

Infants with congenital heart disease (CHD) that is severe enough to require early surgery are at risk for cognitive and motor delays, as well as musculoskeletal impairments, and are best managed by an interdisciplinary team during their hospital stay and after discharge. The purpose of this article is to review some of the risk factors associated…

Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

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Nakahashi, Masumi; Tsushima, Yoshito; Amanuma, Makoto; Endo, Keigo [Gunma University Graduate School of Medicine, Department of Diagnostic Radiology and Nuclear Medicine, Maebashi, Gunma (Japan); Sato, Noriko; Ota, Miho [National Center Hospital of Neurology and Psychiatry, Department of Radiology, Kodaira, Tokyo (Japan); Yagishita, Akira [Tokyo Metropolitan Neurological Hospital, Department of Neuroradiology, Kokubunji, Tokyo (Japan); Saito, Yoshiaki; Sugai, Kenji; Sasaki, Masayuki [National Center Hospital of Neurology and Psychiatry, Department of Child Neurology, Kodaira, Tokyo (Japan); Natsume, Jun [Nagoya University Graduate School of Medicine, Department of Pediatrics, Nagoya, Aichi (Japan)

2009-12-15

Hemimegalencephaly is a well-known congenital malformation. However, localized megalencephaly, which may be one of the subtypes of hemimegalencephaly, has not been separately investigated. In the present study, we attempted to characterize the clinical and magnetic resonance (MR) imaging features of localized megalencephaly in comparison with ordinary diffuse hemimegalencephaly and multilobar cortical dysplasia. MR findings for 43 patients with hemimegalencephaly and ten with multilobar cortical dysplasia, which is the differential diagnosis of localized megalencephaly, were retrospectively reviewed. Clinical findings such as the onset and severity of seizures and imaging findings including the affected area of the brain, structures outside of the hemisphere, and interval morphological changes were examined. Of the 43 patients, 11 showed signs of localized megalencephaly (25.6%). Localized megalencephaly was predominantly seen on the left side (72.7%) and had a tendency toward severe-grade seizures compared to multilobar cortical dysplasia. The frequencies of the extracerebral abnormalities in the diffuse hemimegalencephaly, localized megalencephaly, and multilobar cortical dysplasia groups were 84.4%, 36.4%, and 0.0%, respectively. There were three localized megalencephaly patients whose affected areas shrank and whose images were similar to those of multilobar cortical dysplasia. Localized megalencephaly accounts for one quarter of all hemimegalencephaly cases in this study. The incidence of extracerebral abnormalities in patients with localized hemimegalencephaly was almost half that of patients with diffuse hemimegalencephaly. Extracerebral abnormalities were absent in patients with multilobar cortical dysplasia. Associated extracerebral abnormalities may be a clue to differentiating localized megalencephaly from multilobar cortical dysplasia. (orig.)

The 170ms Response to Faces as Measured by MEG (M170 Is Consistently Altered in Congenital Prosopagnosia.

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Andreas Lueschow

Full Text Available Modularity of face processing is still a controversial issue. Congenital prosopagnosia (cPA, a selective and lifelong impairment in familiar face recognition without evidence of an acquired cerebral lesion, offers a unique opportunity to support this fundamental hypothesis. However, in spite of the pronounced behavioural impairment, identification of a functionally relevant neural alteration in congenital prosopagnosia by electrophysiogical methods has not been achieved so far. Here we show that persons with congenital prosopagnosia can be distinguished as a group from unimpaired persons using magnetoencephalography. Early face-selective MEG-responses in the range of 140 to 200ms (the M170 showed prolonged latency and decreased amplitude whereas responses to another category (houses were indistinguishable between subjects with congenital prosopagnosia and unimpaired controls. Latency and amplitude of face-selective EEG responses (the N170 which were simultaneously recorded were statistically indistinguishable between subjects with cPA and healthy controls which resolves heterogeneous and partly conflicting results from existing studies. The complementary analysis of categorical differences (evoked activity to faces minus evoked activity to houses revealed that the early part of the 170ms response to faces is altered in subjects with cPA. This finding can be adequately explained in a common framework of holistic and part-based face processing. Whereas a significant brain-behaviour correlation of face recognition performance and the size of the M170 amplitude is found in controls a corresponding correlation is not seen in subjects with cPA. This indicates functional relevance of the alteration found for the 170ms response to faces in cPA and pinpoints the impairment of face processing to early perceptual stages.

Meningeal defects alter the tangential migration of cortical interneurons in Foxc1hith/hith mice

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Zarbalis Konstantinos

2012-01-01

Full Text Available Abstract Background Tangential migration presents the primary mode of migration of cortical interneurons translocating into the cerebral cortex from subpallial domains. This migration takes place in multiple streams with the most superficial one located in the cortical marginal zone. While a number of forebrain-expressed molecules regulating this process have emerged, it remains unclear to what extent structures outside the brain, like the forebrain meninges, are involved. Results We studied a unique Foxc1 hypomorph mouse model (Foxc1hith/hith with meningeal defects and impaired tangential migration of cortical interneurons. We identified a territorial correlation between meningeal defects and disruption of interneuron migration along the adjacent marginal zone in these animals, suggesting that impaired meningeal integrity might be the primary cause for the observed migration defects. Moreover, we postulate that the meningeal factor regulating tangential migration that is affected in homozygote mutants is the chemokine Cxcl12. In addition, by using chromatin immunoprecipitation analysis, we provide evidence that the Cxcl12 gene is a direct transcriptional target of Foxc1 in the meninges. Further, we observe migration defects of a lesser degree in Cajal-Retzius cells migrating within the cortical marginal zone, indicating a less important role for Cxcl12 in their migration. Finally, the developmental migration defects observed in Foxc1hith/hith mutants do not lead to obvious differences in interneuron distribution in the adult if compared to control animals. Conclusions Our results suggest a critical role for the forebrain meninges to promote during development the tangential migration of cortical interneurons along the cortical marginal zone and Cxcl12 as the factor responsible for this property.

Disrupted cortical connectivity theory as an explanatory model for autism spectrum disorders.

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Kana, Rajesh K; Libero, Lauren E; Moore, Marie S

2011-12-01

Recent findings of neurological functioning in autism spectrum disorder (ASD) point to altered brain connectivity as a key feature of its pathophysiology. The cortical underconnectivity theory of ASD (Just et al., 2004) provides an integrated framework for addressing these new findings. This theory suggests that weaker functional connections among brain areas in those with ASD hamper their ability to accomplish complex cognitive and social tasks successfully. We will discuss this theory, but will modify the term underconnectivity to 'disrupted cortical connectivity' to capture patterns of both under- and over-connectivity in the brain. In this paper, we will review the existing literature on ASD to marshal supporting evidence for hypotheses formulated on the disrupted cortical connectivity theory. These hypotheses are: 1) underconnectivity in ASD is manifested mainly in long-distance cortical as well as subcortical connections rather than in short-distance cortical connections; 2) underconnectivity in ASD is manifested only in complex cognitive and social functions and not in low-level sensory and perceptual tasks; 3) functional underconnectivity in ASD may be the result of underlying anatomical abnormalities, such as problems in the integrity of white matter; 4) the ASD brain adapts to underconnectivity through compensatory strategies such as overconnectivity mainly in frontal and in posterior brain areas. This may be manifested as deficits in tasks that require frontal-parietal integration. While overconnectivity can be tested by examining the cortical minicolumn organization, long-distance underconnectivity can be tested by cognitively demanding tasks; and 5) functional underconnectivity in brain areas in ASD will be seen not only during complex tasks but also during task-free resting states. We will also discuss some empirical predictions that can be tested in future studies, such as: 1) how disrupted connectivity relates to cognitive impairments in skills such

Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children

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Masoud Motasaddi Zarandy

2016-03-01

Full Text Available Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-threatening, we decided to study the frequency of congenital heart diseases in children with congenital sensory-neural deafness.  Materials and Methods: All children who had undergone cochlear implantation surgery due to SNHL and who had attended our hospital for speech therapy during 2008–2011 were evaluated by Doppler echocardiography.  Results: Thirty-one children (15 boys and 16 girls with a mean age of 55.70 months were examined, and underwent electrocardiography (ECG and echocardiography. None of the children had any signs of heart problems in their medical records. Most of their heart examinations were normal, one patient had expiratory wheeze, four (12% had mid-systolic click, and four (12% had an intensified S1 sound. In echocardiography, 15 children (46% had mitral valve prolapse (MVP and two (6% had minimal mitral regurgitation (MR. Mean ejection fraction (EF was 69% and the mean fractional shortening (FS was 38%.  Conclusion:  This study indicates the need for echocardiography and heart examinations in children with SNHL.

Autobiographic narratives of congenital blind people

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Maria Elisa Caputo Ferreira

2009-12-01

Full Text Available The research carried out in Juiz de Fora, MG, Brazil, intended at investigating, together with men and women who suffer from congenital visual impairment, how they felt about diversity, body image, self-esteem and vanity. The investigation of autobiographical accounts was the option for this study. Initially, 20 (twenty interviews were analyzed and 6 (six autobiographical accounts, selected from the peculiarities of each single interviewee – each one containing his/her single life lessons - followed suit. The conclusion reached is that the subjects had undergone an exhausting process of acceptance of their own impairment. If, on the one hand, the blindness comes with angst, uncertainties, and many difficulties, on the other hand, these circumstances lead the blind to face the ups and downs of life with courage, determination and will to live. Surprisingly, in the study the body was not approached at a source of concern or are which should be emphasized.

76 FR 66006 - Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems

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2011-10-25

... term ``extreme'' in our rules for determining functional equivalence for children.\\5\\ \\5\\ See 20 CFR... may also have congenital heart disease, impaired vision, hearing problems, and other disorders. We... like them, the degree of deviation, interruption, or interference, as well as the resulting functional...

Intonation processing deficits of emotional words among Mandarin Chinese speakers with congenital amusia: an ERP study

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Lu, Xuejing; Ho, Hao Tam; Liu, Fang; Wu, Daxing; Thompson, William F.

2015-01-01

Background: Congenital amusia is a disorder that is known to affect the processing of musical pitch. Although individuals with amusia rarely show language deficits in daily life, a number of findings point to possible impairments in speech prosody that amusic individuals may compensate for by drawing on linguistic information. Using EEG, we investigated (1) whether the processing of speech prosody is impaired in amusia and (2) whether emotional linguistic information can compensate for this i...

Cortical thickness, surface area, and folding alterations in male youths with conduct disorder and varying levels of callous-unemotional traits.

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Fairchild, Graeme; Toschi, Nicola; Hagan, Cindy C; Goodyer, Ian M; Calder, Andrew J; Passamonti, Luca

2015-01-01

Previous studies have reported changes in gray matter volume in youths with conduct disorder (CD), although these differences are difficult to interpret as they may have been driven by alterations in cortical thickness, surface area (SA), or folding. The objective of this study was to use surface-based morphometry (SBM) methods to compare male youths with CD and age and sex-matched healthy controls (HCs) in cortical thickness, SA, and folding. We also tested for structural differences between the childhood-onset and adolescence-onset subtypes of CD and performed regression analyses to assess for relationships between CD symptoms and callous-unemotional (CU) traits and SBM-derived measures. We acquired structural neuroimaging data from 20 HCs and 36 CD participants (18 with childhood-onset CD and 18 with adolescence-onset CD) and analyzed the data using FreeSurfer. Relative to HCs, youths with CD showed reduced cortical thickness in the superior temporal gyrus, reduced SA in the orbitofrontal cortex (OFC), and increased cortical folding in the insula. There were no significant differences between the childhood-onset and adolescence-onset CD subgroups in cortical thickness or SA, but several frontal and temporal regions showed increased cortical folding in childhood-onset relative to adolescence-onset CD participants. Both CD subgroups also showed increased cortical folding relative to HCs. CD symptoms were negatively correlated with OFC SA whereas CU traits were positively correlated with insula folding. Cortical thinning in the superior temporal gyrus may contribute to the social cognitive impairments displayed by youths with CD, whereas reduced OFC SA may lead to impairments in emotion regulation and reward processing in youths with CD. The increased cortical folding observed in the insula may reflect a maturational delay in this region and could mediate the link between CU traits and empathy deficits. Altered cortical folding was observed in childhood-onset and

Multiple sclerosis with predominant, severe cognitive impairment

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Staff, Nathan P.; Lucchinetti, Claudia F.; Keegan, B. Mark

2009-01-01

Objective To describe the characteristics of multiple sclerosis (MS) presenting with severe cognitive impairment as its primary disabling manifestation. Design Retrospective case series. Setting Tertiary referral center. Patients Patients were identified through the Mayo Clinic data retrieval system (1996–2008) with definite MS (McDonald criteria) and severe cognitive impairment as their primary neurological symptom without accompanying significant MS-related impairment or alternative diagnosis for cognitive dysfunction. Twenty-three patients meeting inclusion criteria were compared regarding demographics, clinical course and radiological features. Main Outcome Measures Demographic, clinical, and radiological characteristics of the disease. Results Twelve patients were men. The median age of the first clinical symptom suggestive of CNS demyelination was 33 years, and severe MS-related cognitive impairment developed at a median of 39 years. Cognitive impairment could be dichotomized as subacute fulminant (n=9) or chronic progressive (n=14) in presentation, which corresponded to subsequent relapsing or progressive MS courses. Study patients commonly exhibited psychiatric (65%), mild cerebellar (57%) and cortical symptoms and signs (e.g. seizure, aphasia, apraxia) (39%). Fourteen of 21 (67%), where documented, smoked cigarettes. Brain MRI demonstrated diffuse cerebral atrophy in 16 and gadolinium enhancing lesions in 11. Asymptomatic spinal cord MRI lesions were present in 12 of 16 patients (75%). Immunomodulatory therapies were generally ineffective in improving these patients. Conclusions We describe patients with MS whose clinical phenotype is characterized by severe cognitive dysfunction and prominent cortical and psychiatric signs presenting as a subacute fulminant or chronic progressive clinical course. Cigarette smokers may be over represented in this phenotype. PMID:19752304

Impairment of GABA transporter GAT-1 terminates cortical recurrent network activity via enhanced phasic inhibition

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Daniel Simon Razik

2013-09-01

Full Text Available In the central nervous system, GABA transporters (GATs very efficiently clear synaptically released GABA from the extracellular space, and thus exert a tight control on GABAergic inhibition. In neocortex, GABAergic inhibition is heavily recruited during recurrent phases of spontaneous action potential activity which alternate with neuronally quiet periods. Therefore, such activity should be quite sensitive to minute alterations of GAT function. Here, we explored the effects of a gradual impairment of GAT-1 and GAT-2/3 on spontaneous recurrent network activity – termed network bursts and silent periods – in organotypic slice cultures of rat neocortex. The GAT-1 specific antagonist NO-711 depressed activity already at nanomolar concentrations (IC50 for depression of spontaneous multiunit firing rate of 42 nM, reaching a level of 80% at 500-1000 nM. By contrast, the GAT-2/3 preferring antagonist SNAP-5114 had weaker and less consistent effects. Several lines of evidence pointed towards an enhancement of phasic GABAergic inhibition as the dominant activity-depressing mechanism: network bursts were drastically shortened, phasic GABAergic currents decayed slower, and neuronal excitability during ongoing activity was diminished. In silent periods, NO-711 had little effect on neuronal excitability or membrane resistance, quite in contrast to the effects of muscimol, a GABA mimetic which activates GABAA receptors tonically. Our results suggest that an enhancement of phasic GABAergic inhibition efficiently curtails cortical recurrent activity and may mediate antiepileptic effects of therapeutically relevant concentrations of GAT-1 antagonists.

The impact of the maternal-foetal environment on outcomes of surgery for congenital heart disease in neonates.

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Gaynor, James William; Parry, Samuel; Moldenhauer, Julie S; Simmons, Rebecca A; Rychik, Jack; Ittenbach, Richard F; Russell, William W; Zullo, Erin; Ward, John Laurenson; Nicolson, Susan C; Spray, Thomas L; Johnson, Mark P

2018-02-13

Pregnancies with congenital heart disease in the foetus have an increased prevalence of pre-eclampsia, small for gestational age and preterm birth, which are evidence of an impaired maternal-foetal environment (MFE). The impact of an impaired MFE, defined as pre-eclampsia, small for gestational age or preterm birth, on outcomes after cardiac surgery was evaluated in neonates (n = 135) enrolled in a study evaluating exposure to environmental toxicants and neuro-developmental outcomes. The most common diagnoses were transposition of the great arteries (n = 47) and hypoplastic left heart syndrome (n = 43). Impaired MFE was present in 28 of 135 (21%) subjects, with small for gestational age present in 17 (61%) patients. The presence of an impaired MFE was similar for all diagnoses, except transposition of the great arteries (P MFE (14 vs 38 days, P MFE (11.7% vs 2.8%, P = 0.104). However, for the entire cohort, survival at 36 months was greater for those without an impaired MFE (96% vs 68%, P = 0.001). For patients with hypoplastic left heart syndrome, survival was also greater for those without an impaired MFE (90% vs 43%, P = 0.007). An impaired MFE is common in pregnancies in which the foetus has congenital heart disease. After cardiac surgery in neonates, the presence of an impaired MFE was associated with lower survival at 36 months of age for the entire cohort and for the subgroup with hypoplastic left heart syndrome. © The Author(s) 2018. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

Neurological outcomes in symptomatic congenital cytomegalovirus-infected infants after introduction of newborn urine screening and antiviral treatment.

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Nishida, Kosuke; Morioka, Ichiro; Nakamachi, Yuji; Kobayashi, Yoko; Imanishi, Takamitsu; Kawano, Seiji; Iwatani, Sota; Koda, Tsubasa; Deguchi, Masashi; Tanimura, Kenji; Yamashita, Daisuke; Nibu, Ken-Ichi; Funakoshi, Toru; Ohashi, Masanobu; Inoue, Naoki; Iijima, Kazumoto; Yamada, Hideto

2016-02-01

Newborn screening for urinary cytomegalovirus (CMV) and early introduction of antiviral treatment are expected to improve neurological outcomes in symptomatic congenital CMV-infected infants. This cohort study prospectively evaluated neurological outcomes in symptomatic congenital CMV-infected infants following the introduction of hospital-based newborn urinary CMV screening and antiviral treatment. Following institutional review board approval and written informed consent from their parents, newborns were prospectively screened from 2009 to 2014 for urinary CMV-DNA by PCR within 1 week after birth at Kobe University Hospital and affiliated hospitals. CMV-positive newborns were further examined at Kobe University Hospital, and those diagnosed as symptomatic were treated with valganciclovir for 6 weeks plus immunoglobulin. Clinical neurological outcomes were evaluated at age ⩾12 months and categorized by the presence and severity of neurologic sequelae. Urine samples of 6348 newborns were screened, with 32 (0.50%) positive for CMV. Of these, 16 were diagnosed with symptomatic infection and 12 received antiviral treatment. Four infants developed severe impairment (33%), three developed mild impairment (25%), and five developed normally (42%). This is the first Japanese report of neurological assessments in infants with symptomatic congenital CMV infection who received early diagnosis and antiviral treatment. Urinary screening, resulting in early diagnosis and treatment, may yield better neurological outcomes in symptomatic congenital CMV-infected infants. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Grammatical Impairments in PPA.

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Thompson, Cynthia K; Mack, Jennifer E

2014-09-01

Grammatical impairments are commonly observed in the agrammatic subtype of primary progressive aphasia (PPA-G), whereas grammatical processing is relatively preserved in logopenic (PPA-L) and semantic (PPA-S) subtypes. We review research on grammatical deficits in PPA and associated neural mechanisms, with discussion focused on production and comprehension of four aspects of morphosyntactic structure: grammatical morphology, functional categories, verbs and verb argument structure, and complex syntactic structures. We also address assessment of grammatical deficits in PPA, with emphasis on behavioral tests of grammatical processing. Finally, we address research examining the effects of treatment for progressive grammatical impairments. PPA-G is associated with grammatical deficits that are evident across linguistic domains in both production and comprehension. PPA-G is associated with damage to regions including the left inferior frontal gyrus (IFG) and dorsal white matter tracts, which have been linked to impaired comprehension and production of complex sentences. Detailing grammatical deficits in PPA is important for estimating the trajectory of language decline and associated neuropathology. We, therefore, highlight several new assessment tools for examining different aspects of morphosyntactic processing in PPA. Individuals with PPA-G present with agrammatic deficit patterns distinct from those associated with PPA-L and PPA-S, but similar to those seen in agrammatism resulting from stroke, and patterns of cortical atrophy and white matter changes associated with PPA-G have been identified. Methods for clinical evaluation of agrammatism, focusing on comprehension and production of grammatical morphology, functional categories, verbs and verb argument structure, and complex syntactic structures are recommended and tools for this are emerging in the literature. Further research is needed to investigate the real-time processes underlying grammatical impairments in

Value of renal cortical thickness as a predictor of renal function impairment in chronic renal disease patients

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Samia Rafael Yamashita

2015-02-01

Full Text Available Objective: To determine the presence of linear relationship between renal cortical thickness, bipolar length, and parenchymal thickness in chronic kidney disease patients presenting with different estimated glomerular filtration rates (GFRs and to assess the reproducibility of these measurements using ultrasonography. Materials and Methods: Ultrasonography was performed in 54 chronic renal failure patients. The scans were performed by two independent and blinded radiologists. The estimated GFR was calculated using the Cockcroft-Gault equation. Interobserver agreement was calculated and a linear correlation coefficient (r was determined in order to establish the relationship between the different renal measurements and estimated GFR. Results: The correlation between GFR and measurements of renal cortical thickness, bipolar length, and parenchymal thickness was, respectively, moderate (r = 0.478; p < 0.001, poor (r = 0.380; p = 0.004, and poor (r = 0.277; p = 0.116. The interobserver agreement was considered excellent (0.754 for measurements of cortical thickness and bipolar length (0.833, and satisfactory for parenchymal thickness (0.523. Conclusion: The interobserver reproducibility for renal measurements obtained was good. A moderate correlation was observed between estimated GFR and cortical thickness, but bipolar length and parenchymal thickness were poorly correlated.

Metabolic mapping of the effects of the antidepressant fluoxetine on the brains of congenitally helpless rats.

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Shumake, Jason; Colorado, Rene A; Barrett, Douglas W; Gonzalez-Lima, F

2010-07-09

Antidepressants require adaptive brain changes before efficacy is achieved, and they may impact the affectively disordered brain differently than the normal brain. We previously demonstrated metabolic disturbances in limbic and cortical regions of the congenitally helpless rat, a model of susceptibility to affective disorder, and we wished to test whether administration of fluoxetine would normalize these metabolic differences. Fluoxetine was chosen because it has become a first-line drug for the treatment of affective disorders. We hypothesized that fluoxetine antidepressant effects may be mediated by decreasing metabolism in the habenula and increasing metabolism in the ventral tegmental area. We measured the effects of fluoxetine on forced swim behavior and regional brain cytochrome oxidase activity in congenitally helpless rats treated for 2 weeks with fluoxetine (5mg/kg, i.p., daily). Fluoxetine reduced immobility in the forced swim test as anticipated, but congenitally helpless rats responded in an atypical manner, i.e., increasing climbing without affecting swimming. As hypothesized, fluoxetine reduced metabolism in the habenula and increased metabolism in the ventral tegmental area. In addition, fluoxetine reduced the metabolism of the hippocampal dentate gyrus and dorsomedial prefrontal cortex. This study provided the first detailed mapping of the regional brain effects of an antidepressant drug in congenitally helpless rats. All of the effects were consistent with previous studies that have metabolically mapped the effects of serotonergic antidepressants in the normal rat brain, and were in the predicted direction of metabolic normalization of the congenitally helpless rat for all affected brain regions except the prefrontal cortex. Copyright (c) 2010 Elsevier B.V. All rights reserved.

Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.

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Sethuraman, G; Sreenivas, V; Yenamandra, V K; Gupta, N; Sharma, V K; Marwaha, R K; Bhari, N; Irshad, M; Kabra, M; Thulkar, S

2015-01-01

Patients with congenital ichthyosis, especially those with darker skin types, are at increased risk of developing vitamin D deficiency and rickets. The relationships between 25-hydroxyvitamin D [25(OH)D], parathyroid hormone (PTH) and bone health have not been studied previously, in ichthyosis. To determine the threshold levels of 25(OH)D and PTH for impaired bone health in children with congenital ichthyosis. In this cross-sectional study, 119 children with ichthyosis and 168 controls were recruited. Serum 25(OH)D, PTH, calcium, phosphate and alkaline phosphatase (ALP) were measured. Radiological screening for rickets was carried out only in children with ichthyosis. Forty-seven children with ichthyosis had either clinical or radiological evidence of rickets. The correlation between serum 25(OH)D and PTH showed that a serum level of 25(OH)D 8 ng mL(-1) was associated with a significant increase in PTH. The correlation between PTH and ALP showed that a serum PTH level of 75 pg mL(-1) was associated with a significant increase in ALP levels. Of the different clinical phenotypes of ichthyosis, both autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis (EI) were found to have significantly increased PTH, ALP and radiological rickets scores compared with common ichthyosis. Serum levels of 25(OH)D ≤ 8 ng mL(-1) and PTH ≥ 75 pg mL(-1) significantly increases the risk for development of rickets [odds ratio (OR) 2·8; 95% confidence interval (CI) 1·05-7·40; P = 0·04] in ichthyosis. Among the different types, patients with ARCI (OR 4·83; 95% CI 1·74-13·45; P < 0·01) and EI (OR 5·71; 95% CI 1·74-18·79; P < 0·01) are at an increased risk of developing rickets. © 2014 British Association of Dermatologists.

Impairments of motor-cortex responses to unilateral and bilateral direct current stimulation in schizophrenia

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Alkomiet eHasan

2013-10-01

Full Text Available Transcranial direct current stimulation (tDCS is a non-invasive stimulation technique that can be applied to modulate cortical activity through induction of cortical plasticity. Since various neuropsychiatric disorders are characterised by fluctuations in cortical activity levels (e.g. schizophrenia, tDCS is increasingly investigated as a treatment tool. Several studies have shown that the induction of cortical plasticity following classical, unilateral tDCS is reduced or impaired in the stimulated and non-stimulated primary motor cortices (M1 of schizophrenia patients. Moreover, an alternative, bilateral tDCS setup has recently been shown to modulate cortical plasticity in both hemispheres in healthy subjects, highlighting another potential treatment approach. Here we present the first study comparing the efficacy of unilateral tDCS (cathode left M1, anode right supraorbital with simultaneous bilateral tDCS (cathode left M1, anode right M1 in schizophrenia patients. tDCS-induced cortical plasticity was monitored by investigating motor-evoked potentials induced by single-pulse transcranial magnetic stimulation applied to both hemispheres. Healthy subjects showed a reduction of left M1 excitability following unilateral tDCS on the stimulated left hemisphere and an increase in right M1 excitability following bilateral tDCS. In schizophrenia, no plasticity was induced following both stimulation paradigms. The pattern of these results indicates a complex interplay between plasticity and connectivity that is impaired in schizophrenia patients. Further studies are needed to clarify the biological underpinnings and clinical impact of these findings.

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

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Cannie, Mieke M. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Radiology, Brussels (Belgium); UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Devlieger, Roland; Catte, Luc de; Valk, Elise van der [University Hospitals Leuven, Department of Obstetrics and Gynecology, Leuven (Belgium); Leyder, Mina; Foulon, Walter [UZ Brussel, Vrije Universiteit Brussel, Department of Obstetrics, Brussel (Belgium); Claus, Filip [University Hospitals Leuven, Department of Radiology, Leuven (Belgium); Onze-Lieve-Vrouw Hospital, Department of Radiology, Aalst (Belgium); Leus, Astrid [UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Cossey, Veerle [University Hospitals Leuven, Neonatal Intensive Care Unit, Leuven (Belgium); Foulon, Ina [UZ Brussel, Vrije Universiteit Brussel, Department of Otolaryngology - Head and Neck Surgery, Brussel (Belgium); Cos, Teresa; Jani, Jacques C. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Obstetrics and Gynecology, Brussels (Belgium); Bernaert, Anja [Sint-Augustinus Hospital, Department of Radiology, Antwerp (Belgium); Oyen, Raymond [University Hospitals Leuven, Department of Radiology, Leuven (Belgium)

2016-10-15

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

International Nuclear Information System (INIS)

Cannie, Mieke M.; Devlieger, Roland; Catte, Luc de; Valk, Elise van der; Leyder, Mina; Foulon, Walter; Claus, Filip; Leus, Astrid; Cossey, Veerle; Foulon, Ina; Cos, Teresa; Jani, Jacques C.; Bernaert, Anja; Oyen, Raymond

2016-01-01

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

Reversible cortical blindness in a case of hepatic encephalopathy

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Amlan Kanti Biswas

2016-01-01

Full Text Available Hepatic encephalopathy is a frequent and often fatal manifestation of chronic liver disease. The pathogenesis of hepatic encephalopathy is believed to be multifactorial including impaired blood-brain barrier function, imbalance between the excitatory and inhibitory neurotransmitters in cortex, accumulation of various toxic and false neurotransmitters, and lack of nutrients like oxygen and glucose. Signs and symptoms of hepatic encephalopathy varies and commonly ranges from personality changes, disturbed consciousness, sleep pattern alternation, intellectual deterioration, speech disturbances, asterixis to frank coma and even death. Reversible or transient cortical blindness is rare manifestation of hepatic encephalopathy. It may even precede the phase of altered consciousness in such patients. Very few similar cases have been reported worldwide. Hence, we would like to report a case of transient cortical blindness in a patient of hepatic encephalopathy.

Does tonality boost short-term memory in congenital amusia?

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Albouy, Philippe; Schulze, Katrin; Caclin, Anne; Tillmann, Barbara

2013-11-06

Congenital amusia is a neuro-developmental disorder of music perception and production. Recent findings have demonstrated that this deficit is linked to an impaired short-term memory for tone sequences. As it has been shown before that non-musicians' implicit knowledge of musical regularities can improve short-term memory for tone information, the present study investigated if this type of implicit knowledge could also influence amusics' short-term memory performance. Congenital amusics and their matched controls, who were non-musicians, had to indicate whether sequences of five tones, presented in pairs, were the same or different; half of the pairs respected musical regularities (tonal sequences) and the other half did not (atonal sequences). As previously reported for non-musician participants, the control participants showed better performance (as measured with d') for tonal sequences than for atonal ones. While this improvement was not observed in amusics, both control and amusic participants showed faster response times for tonal sequences than for atonal sequences. These findings suggest that some implicit processing of tonal structures is potentially preserved in congenital amusia. This observation is encouraging as it strengthens the perspective to exploit implicit knowledge to help reducing pitch perception and memory deficits in amusia. © 2013 Elsevier B.V. All rights reserved.

Impaired socio-emotional processing in a developmental music disorder

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Lima, César F.; Brancatisano, Olivia; Fancourt, Amy; Müllensiefen, Daniel; Scott, Sophie K.; Warren, Jason D.; Stewart, Lauren

2016-01-01

Some individuals show a congenital deficit for music processing despite normal peripheral auditory processing, cognitive functioning, and music exposure. This condition, termed congenital amusia, is typically approached regarding its profile of musical and pitch difficulties. Here, we examine whether amusia also affects socio-emotional processing, probing auditory and visual domains. Thirteen adults with amusia and 11 controls completed two experiments. In Experiment 1, participants judged emotions in emotional speech prosody, nonverbal vocalizations (e.g., crying), and (silent) facial expressions. Target emotions were: amusement, anger, disgust, fear, pleasure, relief, and sadness. Compared to controls, amusics were impaired for all stimulus types, and the magnitude of their impairment was similar for auditory and visual emotions. In Experiment 2, participants listened to spontaneous and posed laughs, and either inferred the authenticity of the speaker’s state, or judged how much laughs were contagious. Amusics showed decreased sensitivity to laughter authenticity, but normal contagion responses. Across the experiments, mixed-effects models revealed that the acoustic features of vocal signals predicted socio-emotional evaluations in both groups, but the profile of predictive acoustic features was different in amusia. These findings suggest that a developmental music disorder can affect socio-emotional cognition in subtle ways, an impairment not restricted to auditory information. PMID:27725686

Congenital cytomegalovirus infection: treatment, sequelae and follow-up.

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Lombardi, Giuseppina; Garofoli, Francesca; Stronati, Mauro

2010-10-01

Cytomegalovirus (CMV) is the most common cause of congenital infection affecting about 1% of all the live births worldwide. Its prevalence in the developed world seems to be slightly lower, ranging between 0.6 and 0.7%. Symptoms can be detected at birth in 10-15% of the congenitally infected of which 50-90% will develop sequelae, the most frequent being sensorineural hearing loss (SNHL), visual defect, psychomotor impairment, mental retardation, cerebral palsy and seizures. Eighty-five to 90% of the infected newborns are asymptomatic but 10-15% of them are equally at risk for sensorineural sequelae, like 20-30% of all the infected children. Therefore it is important a time prolonged and closer follow-up of infected children that we propose should be until 6 years of age. This should lead to an early intervention, better management and eventually even control the long-term sequelae. Infants born with symptomatic congenital infection have a worse prognosis than those with no evidence of clinical disease, and ganciclovir (GCV) intravenous 6 mg/kg every 12 h for 6 weeks is the most used therapy for symptomatic newborns. Valganciclovir (V-GCV) syrup is a pro-drug of GCV and presents high oral bioavailability. To date, it is possible to administer this drug at home, and the tolerability profile may allow for wider indications and longer treatments.

Congenital Hypothyroidism

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... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

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L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

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D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

The role of imaging in congenital adrenal hyperplasia

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Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge; Elias, Paula Condé Lamparelli

2014-01-01

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

The role of imaging in congenital adrenal hyperplasia

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Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

2014-10-15

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

Abnormality of cerebral cortical glucose metabolism in temporal lobe epilepsy with cognitive function impairment

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Bang-Hung Yang; Tsung-Szu Yeh; Tung-Ping Su; Jyh-Cheng Chen; Ren-Shyan Liu

2004-01-01

Objective: People with epilepsy commonly report having problems with their memory. Many indicate that memory difficulties significantly hinder their functioning at work, in school, and at home. Besides, some studies have reported that memory performance as a prognostic factor is of most value in patients with risk of refractory epilepsy and when used in a multidisciplinary setting. However, the cerebral cortical areas involving memory impairment in epilepsy is still unknown. The purpose of this study was to access changes of cerebral glucose metabolism of epilepsy patients using [F-18] fluorodeoxyglucose positron emission tomography (FDG PET). Method: Nine temporal lobe epilepsy patients were studied. Each patient was confirmed with lesions in right mesial temporal lobe by MRI, PET and EEG. Serial cognition function tests were performed. Regional cerebral glucose metabolism (rCMRglc) was measured by PET at 45 minutes after injection of 370 MBq of FDG. Parametric images were generated by grand mean scaling each scan to 50. The images were then transformed into standard stereotactic space. Statistical parametric mapping (SPM2) was applied to find the correlations between verbal memory, figure memory, perception intelligent quotation (PIQ) and rCMRglc in epilepsy patients. The changes of rCMRglc were significant if corrected p value was less than 0.05. Results: There was no significant relationship between figure memory score and verbal memory score. FDG-PET scan showed changes of rCMRglc positive related with verbal memory score in precentral gyms of right frontal lobe (Brodmann area 4, corrected p < 0.001, voxel size 240) and cingulated gyms of right limbic lobe (Brodmann area 32, corrected p=0.002, voxel size 143). No negative relationship was demonstrable between verbal memory and rCMRglc in this study. Besides, significanfiy positive correlation between figure memory was shown in cuneus of right occipital lobe (Brodmann area 18, corrected p < 0.001, voxel size

Chronic kidney disease in congenital heart disease patients: a narrative review of evidence.

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Morgan, Catherine; Al-Aklabi, Mohammed; Garcia Guerra, Gonzalo

2015-01-01

Patients with congenital heart disease have a number of risk factors for the development of chronic kidney disease (CKD). It is well known that CKD has a large negative impact on health outcomes. It is important therefore to consider that patients with congenital heart disease represent a population in whom long-term primary and secondary prevention strategies to reduce CKD occurrence and progression could be instituted and significantly change outcomes. There are currently no clear guidelines for clinicians in terms of renal assessment in the long-term follow up of patients with congenital heart disease. Consolidation of knowledge is critical for generating such guidelines, and hence is the purpose of this view. This review will summarize current knowledge related to CKD in patients with congenital heart disease, to highlight important work that has been done to date and set the stage for further investigation, development of prevention strategies, and re-evaluation of appropriate renal follow-up in patients with congenital heart disease. The literature search was conducted using PubMed and Google Scholar. Current epidemiological evidence suggests that CKD occurs in patients with congenital heart disease at a higher frequency than the general population and is detectable early in follow-up (i.e. during childhood). Best evidence suggests that approximately 30 to 50 % of adult patients with congenital heart disease have significantly impaired renal function. The risk of CKD is higher with cyanotic congenital heart disease but it is also present with non-cyanotic congenital heart disease. Although significant knowledge gaps exist, the sum of the data suggests that patients with congenital heart disease should be followed from an early age for the development of CKD. There is an opportunity to mitigate CKD progression and negative renal outcomes by instituting interventions such as stringent blood pressure control and reduction of proteinuria. There is a need to

The mechanism of speech processing in congenital amusia: evidence from Mandarin speakers.

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Fang Liu

Full Text Available Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing. This study investigated speech processing in a group of Mandarin speakers with congenital amusia. Thirteen Mandarin amusics and thirteen matched controls participated in a set of tone and intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance on word discrimination in natural speech and their gliding tone analogs. They also performed worse than controls on discriminating gliding tone sequences derived from statements and questions, and showed elevated thresholds for pitch change detection and pitch direction discrimination. However, they performed as well as controls on word identification, and on statement-question identification and discrimination in natural speech. Overall, tasks that involved multiple acoustic cues to communicative meaning were not impacted by amusia. Only when the tasks relied mainly on pitch sensitivity did amusics show impaired performance compared to controls. These findings help explain why amusia only affects speech processing in subtle ways. Further studies on a larger sample of Mandarin amusics and on amusics of other language backgrounds are needed to consolidate these results.

The mechanism of speech processing in congenital amusia: evidence from Mandarin speakers.

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Liu, Fang; Jiang, Cunmei; Thompson, William Forde; Xu, Yi; Yang, Yufang; Stewart, Lauren

2012-01-01

Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing. This study investigated speech processing in a group of Mandarin speakers with congenital amusia. Thirteen Mandarin amusics and thirteen matched controls participated in a set of tone and intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance on word discrimination in natural speech and their gliding tone analogs. They also performed worse than controls on discriminating gliding tone sequences derived from statements and questions, and showed elevated thresholds for pitch change detection and pitch direction discrimination. However, they performed as well as controls on word identification, and on statement-question identification and discrimination in natural speech. Overall, tasks that involved multiple acoustic cues to communicative meaning were not impacted by amusia. Only when the tasks relied mainly on pitch sensitivity did amusics show impaired performance compared to controls. These findings help explain why amusia only affects speech processing in subtle ways. Further studies on a larger sample of Mandarin amusics and on amusics of other language backgrounds are needed to consolidate these results.

INCITE: A randomised trial comparing constraint induced movement therapy and bimanual training in children with congenital hemiplegia

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Gilmore Rose

2010-01-01

Full Text Available Abstract Background Congenital hemiplegia is the most common form of cerebral palsy (CP accounting for 1 in 1300 live births. These children have limitations in capacity to use the impaired upper limb and bimanual coordination deficits which impact on daily activities and participation in home, school and community life. There are currently two diverse intensive therapy approaches. Traditional therapy has adopted a bimanual approach (BIM training and recently, constraint induced movement therapy (CIMT has emerged as a promising unimanual approach. Uncertainty remains about the efficacy of these interventions and characteristics of best responders. This study aims to compare the efficacy of CIMT to BIM training to improve outcomes across the ICF for school children with congenital hemiplegia. Methods/Design A matched pairs randomised comparison design will be used with children matched by age, gender, side of hemiplegia and level of upper limb function. Based on power calculations a sample size of 52 children (26 matched pairs will be recruited. Children will be randomised within pairs to receive either CIMT or BIM training. Both interventions will use an intensive activity based day camp model, with groups receiving the same dosage of intervention delivered in the same environment (total 60 hours over 10 days. A novel circus theme will be used to enhance motivation. Groups will be compared at baseline, then at 3, 26 and 52 weeks following intervention. Severity of congenital hemiplegia will be classified according to brain structure (MRI and white matter fibre tracking, cortical excitability using Transcranial Magnetic Stimulation (TMS, functional use of the hand in everyday tasks (Manual Ability Classification System and Gross Motor Function Classification System (GMFCS. Outcomes will address neurovascular changes (functional MRI, functional connectivity, and brain (reorganisation (TMS, body structure and function (range of motion, spasticity

Mapping cortical hand motor representation using TMS: A method to assess brain plasticity and a surrogate marker for recovery of function after stroke?

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Lüdemann-Podubecká, Jitka; Nowak, Dennis Alexander

2016-10-01

Stroke is associated with reorganization within motor areas of both hemispheres. Mapping the cortical hand motor representation using transcranial magnetic stimulation may help to understand the relationship between motor cortex reorganization and motor recovery of the affected hand after stroke. A standardized review of the pertinent literature was performed. We identified 20 trials, which analyzed the relationship between the extent and/or location of cortical hand motor representation using transcranial magnetic stimulation and motor function and recovery of the affected hand. Several correlations were found between cortical reorganization and measures of hand motor impairment and recovery. A better understanding of the relationships between the extent and location of cortical hand motor representation and the motor impairment and motor recovery of the affected hand after stroke may contribute to a targeted use of non-invasive brain stimulation protocols. In the future motor mapping may help to guide brain stimulation techniques to the most effective motor area in an affected individual. Copyright © 2016 Elsevier Ltd. All rights reserved.

Should Individuals Who Do Not Fit the Definition of "Visual Impairment" Be Excluded from Visual Impairment Services?

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Morse, Mary T.

2017-01-01

Cerebral or cortical visual impairment (CVI) is not the unknown condition it was 50 years ago. Although research had been conducted and papers published, it was not until the 1980s that it really became an issue of concern and much debate for educators. This interest was primarily sparked by the increasing numbers of children who had been…

[Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

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Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

2015-01-01

Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

Cognitive impairment after traumatic brain injury: a functional magnetic resonance imaging study using the Stroop task

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Soeda, Akio; Iwama, Toru; Nakashima, Toshihiko; Okumura, Ayumi; Shinoda, Jun; Kuwata, Kazuo

2005-01-01

The anterior cingulate cortex (ACC) plays a key role in cognition, motor function, and emotion processing. However, little is known about how traumatic brain injury (TBI) affects the ACC system. Our purpose was to compare, by functional magnetic resonance imaging (fMRI) studies, the patterns of cortical activation in patients with cognitive impairment after TBI and those of normal subjects. Cortical activation maps of 11 right-handed healthy control subjects and five TBI patients with cognitive impairment were recorded in response to a Stroop task during a block-designed fMRI experiment. Statistical parametric mapping (SPM99) was used for individual subjects and group analysis. In TBI patients and controls, cortical activation, found in similar regions of the frontal, occipital, and parietal lobes, resembled patterns of activation documented in previous neuroimaging studies of the Stroop task in healthy controls. However, the TBI patients showed a relative decrease in ACC activity compared with the controls. Cognitive impairment in TBI patients seems to be associated with alterations in functional cerebral activity, especially less activation of the ACC. These changes are probably the result of destruction of neural networks after diffuse axonal injury and may reflect cortical disinhibition attributable to disconnection or compensation for an inefficient cognitive process. (orig.)

Cognitive impairment after traumatic brain injury: a functional magnetic resonance imaging study using the Stroop task

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Soeda, Akio; Iwama, Toru [Gifu University School of Medicine, Department of Neurosurgery, Gifu City (Japan); Nakashima, Toshihiko; Okumura, Ayumi; Shinoda, Jun [Kizawa Memorial Hospital, Chubu Medical Center for Prolonged Traumatic Brain Dysfunction, Department of Neurosurgery, Minokamo (Japan); Kuwata, Kazuo [Gifu University School of Medicine, Department of Biochemistry and Biophysics, Gifu (Japan)

2005-07-01

The anterior cingulate cortex (ACC) plays a key role in cognition, motor function, and emotion processing. However, little is known about how traumatic brain injury (TBI) affects the ACC system. Our purpose was to compare, by functional magnetic resonance imaging (fMRI) studies, the patterns of cortical activation in patients with cognitive impairment after TBI and those of normal subjects. Cortical activation maps of 11 right-handed healthy control subjects and five TBI patients with cognitive impairment were recorded in response to a Stroop task during a block-designed fMRI experiment. Statistical parametric mapping (SPM99) was used for individual subjects and group analysis. In TBI patients and controls, cortical activation, found in similar regions of the frontal, occipital, and parietal lobes, resembled patterns of activation documented in previous neuroimaging studies of the Stroop task in healthy controls. However, the TBI patients showed a relative decrease in ACC activity compared with the controls. Cognitive impairment in TBI patients seems to be associated with alterations in functional cerebral activity, especially less activation of the ACC. These changes are probably the result of destruction of neural networks after diffuse axonal injury and may reflect cortical disinhibition attributable to disconnection or compensation for an inefficient cognitive process. (orig.)

A pilot study regarding basic knowledge of "cortical visual impairment in children" among ophthalmologists.

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Maitreya, Amit; Rawat, Darshika; Pandey, Shubham

2018-02-01

A pilot study was done to evaluate knowledge regarding "cortical visual impairment (CVI) in children" among ophthalmologists. This study was conducted during the annual conference of a zonal ophthalmological society. All ophthalmologists who attended the conference were requested to participate in this study. Those who agreed were given a validated questionnaire to assess knowledge regarding CVI. Cronbach's alpha of the questionnaire was 0.6. Participants were asked to respond to multiple choice questions by choosing the single best option. The responses obtained were then evaluated. The total number of registered delegates in the conference was 448. A total of 103 ophthalmologists showed interest to participate in the study with a response rate of 22.9%. Only 89/103 interested delegates were included in the study as remaining were unaware of CVI. No participant gave correct answers to all questions. Although more than 80% of them knew the most common association (87%) and site of pathology (84%), only 52% were sure about clinical features and even lesser respondents (39%) knew that magnetic resonance imaging is the correct investigation of choice. The majority responded correctly that these children need eye examination (89%) and can be managed by rehabilitation through multidisciplinary approach (82%), but only 58% could recognize differential diagnoses and had a correct idea regarding the prognosis of CVI. There was no correlation between the number of patients diagnosed per month by the respondent with knowledge of the disease. In this pilot study, ophthalmologists were found to have limited knowledge regarding clinical features, investigation, differential diagnosis, and visual prognosis of CVI in children. There is a need to improve awareness regarding CVI among ophthalmologists.

Cytomegalovirus Congenital Cataract

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Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Regional vulnerability of longitudinal cortical association connectivity

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Rafael Ceschin

2015-01-01

Full Text Available Preterm born children with spastic diplegia type of cerebral palsy and white matter injury or periventricular leukomalacia (PVL, are known to have motor, visual and cognitive impairments. Most diffusion tensor imaging (DTI studies performed in this group have demonstrated widespread abnormalities using averaged deterministic tractography and voxel-based DTI measurements. Little is known about structural network correlates of white matter topography and reorganization in preterm cerebral palsy, despite the availability of new therapies and the need for brain imaging biomarkers. Here, we combined novel post-processing methodology of probabilistic tractography data in this preterm cohort to improve spatial and regional delineation of longitudinal cortical association tract abnormalities using an along-tract approach, and compared these data to structural DTI cortical network topology analysis. DTI images were acquired on 16 preterm children with cerebral palsy (mean age 5.6 ± 4 and 75 healthy controls (mean age 5.7 ± 3.4. Despite mean tract analysis, Tract-Based Spatial Statistics (TBSS and voxel-based morphometry (VBM demonstrating diffusely reduced fractional anisotropy (FA reduction in all white matter tracts, the along-tract analysis improved the detection of regional tract vulnerability. The along-tract map-structural network topology correlates revealed two associations: (1 reduced regional posterior–anterior gradient in FA of the longitudinal visual cortical association tracts (inferior fronto-occipital fasciculus, inferior longitudinal fasciculus, optic radiation, posterior thalamic radiation correlated with reduced posterior–anterior gradient of intra-regional (nodal efficiency metrics with relative sparing of frontal and temporal regions; and (2 reduced regional FA within frontal–thalamic–striatal white matter pathways (anterior limb/anterior thalamic radiation, superior longitudinal fasciculus and cortical spinal tract

Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease

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Volney L. Sheen

2012-01-01

Full Text Available During cortical development, proliferating neural progenitors exhibit polarized apical and basolateral membranes that are maintained by tightly controlled and membrane-specific vesicular trafficking pathways. Disruption of polarity through impaired delivery of proteins can alter cell fate decisions and consequent expansion of the progenitor pool, as well as impact the integrity of the neuroependymal lining. Loss of neuroependymal integrity disrupts radial glial scaffolding and alters initial neuronal migration from the ventricular zone. Vesicle trafficking is also required for maintenance of lipid and protein cycling within the leading and trailing edge of migratory neurons, as well as dendrites and synapses of mature neurons. Defects in this transport machinery disrupt neuronal identity, migration, and connectivity and give rise to a malformation of cortical development termed as periventricular heterotopia (PH. PH is characterized by a reduction in brain size, ectopic clusters of neurons localized along the lateral ventricle, and epilepsy and dyslexia. These anatomical anomalies correlate with developmental impairments in neural progenitor proliferation and specification, migration from loss of neuroependymal integrity and neuronal motility, and aberrant neuronal process extension. Genes causal for PH regulate vesicle-mediated endocytosis along an actin cytoskeletal network. This paper explores the role of these dynamic processes in cortical development and disease.

Dysregulated Expression of Neuregulin-1 by Cortical Pyramidal Neurons Disrupts Synaptic Plasticity

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Amit Agarwal

2014-08-01

Full Text Available Neuregulin-1 (NRG1 gene variants are associated with increased genetic risk for schizophrenia. It is unclear whether risk haplotypes cause elevated or decreased expression of NRG1 in the brains of schizophrenia patients, given that both findings have been reported from autopsy studies. To study NRG1 functions in vivo, we generated mouse mutants with reduced and elevated NRG1 levels and analyzed the impact on cortical functions. Loss of NRG1 from cortical projection neurons resulted in increased inhibitory neurotransmission, reduced synaptic plasticity, and hypoactivity. Neuronal overexpression of cysteine-rich domain (CRD-NRG1, the major brain isoform, caused unbalanced excitatory-inhibitory neurotransmission, reduced synaptic plasticity, abnormal spine growth, altered steady-state levels of synaptic plasticity-related proteins, and impaired sensorimotor gating. We conclude that an “optimal” level of NRG1 signaling balances excitatory and inhibitory neurotransmission in the cortex. Our data provide a potential pathomechanism for impaired synaptic plasticity and suggest that human NRG1 risk haplotypes exert a gain-of-function effect.

Dysregulated expression of neuregulin-1 by cortical pyramidal neurons disrupts synaptic plasticity.

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Agarwal, Amit; Zhang, Mingyue; Trembak-Duff, Irina; Unterbarnscheidt, Tilmann; Radyushkin, Konstantin; Dibaj, Payam; Martins de Souza, Daniel; Boretius, Susann; Brzózka, Magdalena M; Steffens, Heinz; Berning, Sebastian; Teng, Zenghui; Gummert, Maike N; Tantra, Martesa; Guest, Peter C; Willig, Katrin I; Frahm, Jens; Hell, Stefan W; Bahn, Sabine; Rossner, Moritz J; Nave, Klaus-Armin; Ehrenreich, Hannelore; Zhang, Weiqi; Schwab, Markus H

2014-08-21

Neuregulin-1 (NRG1) gene variants are associated with increased genetic risk for schizophrenia. It is unclear whether risk haplotypes cause elevated or decreased expression of NRG1 in the brains of schizophrenia patients, given that both findings have been reported from autopsy studies. To study NRG1 functions in vivo, we generated mouse mutants with reduced and elevated NRG1 levels and analyzed the impact on cortical functions. Loss of NRG1 from cortical projection neurons resulted in increased inhibitory neurotransmission, reduced synaptic plasticity, and hypoactivity. Neuronal overexpression of cysteine-rich domain (CRD)-NRG1, the major brain isoform, caused unbalanced excitatory-inhibitory neurotransmission, reduced synaptic plasticity, abnormal spine growth, altered steady-state levels of synaptic plasticity-related proteins, and impaired sensorimotor gating. We conclude that an "optimal" level of NRG1 signaling balances excitatory and inhibitory neurotransmission in the cortex. Our data provide a potential pathomechanism for impaired synaptic plasticity and suggest that human NRG1 risk haplotypes exert a gain-of-function effect. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Neural correlates of virtual route recognition in congenital blindness

DEFF Research Database (Denmark)

Kupers, Ron; Chebat, Daniel R; Madsen, Kristoffer H

2010-01-01

Despite the importance of vision for spatial navigation, blind subjects retain the ability to represent spatial information and to move independently in space to localize and reach targets. However, the neural correlates of navigation in subjects lacking vision remain elusive. We therefore used...... functional MRI (fMRI) to explore the cortical network underlying successful navigation in blind subjects. We first trained congenitally blind and blindfolded sighted control subjects to perform a virtual navigation task with the tongue display unit (TDU), a tactile-to-vision sensory substitution device...... that translates a visual image into electrotactile stimulation applied to the tongue. After training, participants repeated the navigation task during fMRI. Although both groups successfully learned to use the TDU in the virtual navigation task, the brain activation patterns showed substantial differences. Blind...

Organizational strategy influence on visual memory performance after stroke: cortical/subcortical and left/right hemisphere contrasts.

Science.gov (United States)

Lange, G; Waked, W; Kirshblum, S; DeLuca, J

2000-01-01

To examine how organizational strategy at encoding influences visual memory performance in stroke patients. Case control study. Postacute rehabilitation hospital. Stroke patients with right hemisphere damage (n = 20) versus left hemisphere damage (n = 15), and stroke patients with cortical damage (n = 11) versus subcortical damage (n = 19). Organizational strategy scores, recall performance on the Rey-Osterrieth Complex Figure (ROCF). Results demonstrated significantly greater organizational impairment and less accurate copy performance (i.e., encoding of visuospatial information on the ROCF) in the right compared to the left hemisphere group, and in the cortical relative to the subcortical group. Organizational strategy and copy accuracy scores were significantly related to each other. The absolute amount of immediate and delayed recall was significantly associated with poor organizational strategy scores. However, relative to the amount of visual information originally encoded, memory performances did not differ between groups. These findings suggest that visual memory impairments after stroke may be caused by a lack of organizational strategy affecting information encoding, rather than an impairment in memory storage or retrieval.

Etiology and prevalence rate of bilateral sensorineural hearing impairment in children born in Kobe city over a 10 year period

International Nuclear Information System (INIS)

Yoshioka, Mieko; Naito, Yashushi

2008-01-01

The study was carried out on children born over a 10 year period from 1997 to 2006 in Kobe city and referred to our center for specialist audiological assessment. A total of 107 cases had a bilateral sensorineural hearing impairment averaging 25 dB or over in the better hearing ear during the study period. To ascertain causes of sensorineural hearing impairment, full medical histories were obtained with detailed family history relevant to hearing impairment and perinatal course for adverse etiological factors. The children were investigated for possible congenital infection and chromosomal anomalies. Children with positive family history of deafness in parents or siblings constituted 11.2% of cases (genetic group). Other etiological groups showed the following distribution: syndromal group 5.6%; inner ear anomalies 5.6%; perinatal group 13.1%; congenital infection 11.2%; chromosomal anomalies 16.8%; multiple congenital anomalies 5.6%; causes unknown 30.9%. The high incidence of causes unknown indicates that steps should be taken to yield a diagnosis. The total number of children born in Kobe city was 117,896 during the period from 1997 to 2005, which gave a prevalence rate of hearing impairment of 0.87/1,000 births. Newborn hearing screening identified many children earlier and also provide the opportunity to finetune the evaluation. (author)

Testicular Adrenal Rest Tumors (TARTS With Unusual Histological Features in Congenital Adrenal Hyperplasia (CAH

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Valeri Marianovsky

2015-07-01

Full Text Available Congenital adrenal hyperplasia (CAH patients with testicular adrenal rest tumors (TARTs with testicular enlargement present a serious diagnostic challenge. According to the data TARTs are usually benign. They are rare, resulting in paucity in the medical literature regarding their pathological features. We report a case of bilateral synchronous mass-forming TARTs with marked cytological and nuclear atypia misinterpreted as malignant testicular tumors in a 40-years-old man with CAH and CT and MRI data for pheochromocytoma of the right adrenal gland and paraaortal and paracaval lymphadenomegaly. He was previously diagnosed with adrenal cortical carcinoma of the left adrenal gland.

EEG UPPER/LOW ALPHA FREQUENCY POWER RATIO RELATES TO TEMPORO-PARIETAL BRAIN ATROPHY AND MEMORY PERFORMANCES IN MILD COGNITIVE IMPAIRMENT

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Davide Vito Moretti

2013-10-01

Full Text Available Objective: temporo-parietal cortex thinning is associated to mild cognitive impairment (MCI due to Alzheimer disease (AD. The increase of EEG upper/low alpha power ratio has been associated with AD-converter MCI subjects. We investigated the association of alpha3/alpha2 ratio with patterns of cortical thickness in MCI.Methods: 74 adult subjects with MCI underwent clinical and neuropsychological evaluation, electroencephalogram (EEG recording and high resolution 3D magnetic resonance imaging (MRI. Alpha3/alpha2 power ratio as well as cortical thickness was computed for each subject. Three MCI groups were detected according to increasing tertile values of upper/low alpha power ratio . Difference of cortical thikness among the groups was estimated. Pearson’s r was used to assess the topography of the correlation between cortical thinning and memory impairment.Results: High upper/low alpha power ratio group had total cortical grey matter (CGM volume reduction of 471 mm2 than low upper/low alpha power ratio group (p

Enhanced peripheral visual processing in congenitally deaf humans is supported by multiple brain regions, including primary auditory cortex

Directory of Open Access Journals (Sweden)

Gregory D. Scott

2014-03-01

Full Text Available Brain reorganization associated with altered sensory experience clarifies the critical role of neuroplasticity in development. An example is enhanced peripheral visual processing associated with congenital deafness, but the neural systems supporting this have not been fully characterized. A gap in our understanding of deafness-enhanced peripheral vision is the contribution of primary auditory cortex. Previous studies of auditory cortex that use anatomical normalization across participants were limited by inter-subject variability of Heschl’s gyrus. In addition to reorganized auditory cortex (cross-modal plasticity, a second gap in our understanding is the contribution of altered modality-specific cortices (visual intramodal plasticity in this case, as well as supramodal and multisensory cortices, especially when target detection is required across contrasts. Here we address these gaps by comparing fMRI signal change for peripheral versus perifoveal visual stimulation (11-15° vs. 2°-7° in congenitally deaf and hearing participants in a blocked experimental design with two analytical approaches: a Heschl’s gyrus region of interest analysis and a whole brain analysis. Our results using individually-defined primary auditory cortex (Heschl’s gyrus indicate that fMRI signal change for more peripheral stimuli was greater than perifoveal in deaf but not in hearing participants. Whole-brain analyses revealed differences between deaf and hearing participants for peripheral versus perifoveal visual processing in extrastriate visual cortex including primary auditory cortex, MT+/V5, superior-temporal auditory and multisensory and/or supramodal regions, such as posterior parietal cortex, frontal eye fields, anterior cingulate, and supplementary eye fields. Overall, these data demonstrate the contribution of neuroplasticity in multiple systems including primary auditory cortex, supramodal and multisensory regions, to altered visual processing in

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Fine motor skills and expressive language: a study with children with congenital hypotyreoidism.

Science.gov (United States)

Frezzato, Renata Camargo; Santos, Denise Castilho Cabrera; Goto, Maura Mikie Fukujima; Ouro, Michelle Prado Cabral do; Santos, Carolina Taddeo Mendes Dos; Dutra, Vivian; Lima, Maria Cecília Marconi Pinheiro

2017-03-09

To screen the global development of children with and without congenital hypothyroidism and to investigate the association between fine motor skills and expressive language development in both groups. This is a prospective study of a cohort of children diagnosed with Congenital Hypothyroidism and monitored in a reference service for congenital hypothyroidism of a public hospital and of children without this disorder. The screening was performed using the Bayley Scales of Infant Development III in the cognitive, gross and fine motor skills, and receptive and expressive language domains. The children's performance was expressed in three categories: competent, and non-competent. We screened 117 children with average age of 21 months diagnosed with Congenital Hypothyroidism at birth, with the Thyroid Stimulating Hormone (TSH) level normalized during screening, and 51 children without the condition. The children with Congenital Hypothyroidism presented lower performance in gross and fine motor skills upon comparison between the two groups, and no differences were found in the cognitive and receptive and expressive language domains. The association between fine motor skills and language persisted in the group with Hypothyroidism, demonstrating that the interrelationship of skills is present in all individuals, although this group is two times more likely to present expressive language impairment when fine motor skills are already compromised. In the development process, both skills - motor and expressive language - might be associated and/or dependent on each other in the sample assessed.

Spatial imagery relies on a sensory independent, though sensory sensitive, functional organization within the parietal cortex: a fMRI study of angle discrimination in sighted and congenitally blind individuals.

Science.gov (United States)

Bonino, Daniela; Ricciardi, Emiliano; Bernardi, Giulio; Sani, Lorenzo; Gentili, Claudio; Vecchi, Tomaso; Pietrini, Pietro

2015-02-01

Although vision offers distinctive information to space representation, individuals who lack vision since birth often show perceptual and representational skills comparable to those found in sighted individuals. However, congenitally blind individuals may result in impaired spatial analysis, when engaging in 'visual' spatial features (e.g., perspective or angle representation) or complex spatial mental abilities. In the present study, we measured behavioral and brain responses using functional magnetic resonance imaging in sighted and congenitally blind individuals during spatial imagery based on a modified version of the mental clock task (e.g., angle discrimination) and a simple recognition control condition, as conveyed across distinct sensory modalities: visual (sighted individuals only), tactile and auditory. Blind individuals were significantly less accurate during the auditory task, but comparable-to-sighted during the tactile task. As expected, both groups showed common neural activations in intraparietal and superior parietal regions across visual and non-visual spatial perception and imagery conditions, indicating the more abstract, sensory independent functional organization of these cortical areas, a property that we named supramodality. At the same time, however, comparisons in brain responses and functional connectivity patterns across experimental conditions demonstrated also a functional lateralization, in a way that correlated with the distinct behavioral performance in blind and sighted individuals. Specifically, blind individuals relied more on right parietal regions, mainly in the tactile and less in the auditory spatial processing. In sighted, spatial representation across modalities relied more on left parietal regions. In conclusions, intraparietal and superior parietal regions subserve supramodal spatial representations in sighted and congenitally blind individuals. Differences in their recruitment across non-visual spatial processing in

Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis

OpenAIRE

Bainbridge, James W B; Mehat, Manjit S; Sundaram, Venki; Robbie, Scott J; Barker, Susie E; Ripamonti, Caterina; Georgiadis, Anastasios; Mowat, Freya M; Beattie, Stuart G; Gardner, Peter J; Feathers, Kecia L; Luong, Vy A; Yzer, Suzanne; Balaggan, Kamaljit; Viswanathan, Ananth

2015-01-01

Background Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. Gene therapy can result in modest improvements in night vision, but knowledge of its efficacy in humans is limited. Methods We performed a phase 1-2 open-label trial involving 12 participants to evaluate the safety and efficacy of gene therapy with a recombinant adeno-associated virus 2/2 (rAAV2/2) vector carrying the RPE65 complementary DNA, an...

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Blindness and visual impairment in opera.

Science.gov (United States)

Aydin, Pinar; Ritch, Robert; O'Dwyer, John

2018-01-01

The performing arts mirror the human condition. This study sought to analyze the reasons for inclusion of visually impaired characters in opera, the cause of the blindness or near blindness, and the dramatic purpose of the blindness in the storyline. We reviewed operas from the 18 th century to 2010 and included all characters with ocular problems. We classified the cause of each character's ocular problem (organic, nonorganic, and other) in relation to the thematic setting of the opera: biblical and mythical, blind beggars or blind musicians, historical (real or fictional characters), and contemporary or futuristic. Cases of blindness in 55 characters (2 as a choir) from 38 operas were detected over 3 centuries of repertoire: 11 had trauma-related visual impairment, 5 had congenital blindness, 18 had visual impairment of unknown cause, 9 had psychogenic or malingering blindness, and 12 were symbolic or miracle-related. One opera featured an ophthalmologist curing a patient. The research illustrates that visual impairment was frequently used as an artistic device to enhance the intent and situate an opera in its time.

Early vision impairs tactile perception in the blind.

Science.gov (United States)

Röder, Brigitte; Rösler, Frank; Spence, Charles

2004-01-20

Researchers have known for more than a century that crossing the hands can impair both tactile perception and the execution of appropriate finger movements. Sighted people find it more difficult to judge the temporal order when two tactile stimuli, one applied to either hand, are presented and their hands are crossed over the midline as compared to when they adopt a more typical uncrossed-hands posture. It has been argued that because of the dominant role of vision in motor planning and execution, tactile stimuli are remapped into externally defined coordinates (predominantly determined by visual inputs) that takes longer to achieve when external and body-centered codes (determined primarily by somatosensory/proprioceptive inputs) are in conflict and that involves both multisensory parietal and visual cortex. Here, we show that the performance of late, but not of congenitally, blind people was impaired by crossing the hands. Moreover, we provide the first empirical evidence for superior temporal order judgments (TOJs) for tactile stimuli in the congenitally blind. These findings suggest a critical role of childhood vision in modulating the perception of touch that may arise from the emergence of specific crossmodal links during development.

Incidence of risk factors for hearing impairment in premature babies

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Nikolić Mina

2016-01-01

Full Text Available According to the World Health Organization, the incidence of hearing impairment in newborn population is 1-3 per 1000 (WHO, 2012. Apart from that, many authors have found that the incidence of hearing impairment is twenty times higher, 2-4%, in neonatal intensive care unit (NICU. Thus, a congenital hearing loss is the most frequent sensory or motor deficit that could be diagnosed immediately upon birth. The objective of this study was to determine the incidence of risk factors for hearing impairment in the population of preterm babies. We were especially interested in the impact of gestational age at birth on the incidence of risk factors for hearing loss. A cohort of 150 preterm babies was enrolled in the study. They were hospitalized in the Institute for Neonatology in Belgrade during 2014 and 2015 and the data were obtained from their medical files. The results of this study indicate high incidence of risk factors for hearing impairment in this population of babies. Gestational age at birth had a strong, statistically significant, correlation with risk factor incidence in lower gestational age and vice versa. High incidence of risk factors and their interaction could account for twenty times higher occurrence of congenital and early acquired hearing loss in population of preterm babies compared to term neonates. These results imply the need for systematic audiological surveillance of prematurely born babies at least until 12 months of corrected age.

Progressive posterior cortical dysfunction

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Fábio Henrique de Gobbi Porto

Full Text Available Abstract Progressive posterior cortical dysfunction (PPCD is an insidious syndrome characterized by prominent disorders of higher visual processing. It affects both dorsal (occipito-parietal and ventral (occipito-temporal pathways, disturbing visuospatial processing and visual recognition, respectively. We report a case of a 67-year-old woman presenting with progressive impairment of visual functions. Neurologic examination showed agraphia, alexia, hemispatial neglect (left side visual extinction, complete Balint's syndrome and visual agnosia. Magnetic resonance imaging showed circumscribed atrophy involving the bilateral parieto-occipital regions, slightly more predominant to the right . Our aim was to describe a case of this syndrome, to present a video showing the main abnormalities, and to discuss this unusual presentation of dementia. We believe this article can contribute by improving the recognition of PPCD.

Progressive posterior cortical dysfunction

Science.gov (United States)

Porto, Fábio Henrique de Gobbi; Machado, Gislaine Cristina Lopes; Morillo, Lilian Schafirovits; Brucki, Sonia Maria Dozzi

2010-01-01

Progressive posterior cortical dysfunction (PPCD) is an insidious syndrome characterized by prominent disorders of higher visual processing. It affects both dorsal (occipito-parietal) and ventral (occipito-temporal) pathways, disturbing visuospatial processing and visual recognition, respectively. We report a case of a 67-year-old woman presenting with progressive impairment of visual functions. Neurologic examination showed agraphia, alexia, hemispatial neglect (left side visual extinction), complete Balint’s syndrome and visual agnosia. Magnetic resonance imaging showed circumscribed atrophy involving the bilateral parieto-occipital regions, slightly more predominant to the right. Our aim was to describe a case of this syndrome, to present a video showing the main abnormalities, and to discuss this unusual presentation of dementia. We believe this article can contribute by improving the recognition of PPCD. PMID:29213665

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

Musical familiarity in congenital amusia: evidence from a gating paradigm.

Science.gov (United States)

Tillmann, Barbara; Albouy, Philippe; Caclin, Anne; Bigand, Emmanuel

2014-10-01

Congenital amusia has been described as a lifelong deficit of music perception and production, notably including amusic individuals' difficulties to recognize a familiar tune without the aid of lyrics. The present study aimed to evaluate whether amusic individuals might have acquired long-term knowledge of familiar music, and to test for the minimal amount of acoustic information necessary to access this knowledge (if any) in amusia. Segments of familiar and unfamiliar instrumental musical pieces were presented with increasing duration (250, 500, 1000 msec etc.), and participants provided familiarity judgments for each segment. Results showed that amusic individuals succeeded in differentiating familiar from unfamiliar excerpts with as little acoustic information as did control participants (i.e., within 500 msec). The findings reveal that amusic individuals have stored musical pieces in long-term memory (LTM), and, together with other recent findings, they suggest that congenital amusia might impair conscious access to music processing rather than music processing per se.

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

NARCIS (Netherlands)

Iqbal, Z.; Shahzad, M.; Vissers, L.E.L.M.; Scherpenzeel, M. van; Gilissen, C.; Razzaq, A.; Zahoor, M.Y.; Khan, S.N.; Kleefstra, T.; Veltman, J.A.; Brouwer, A.P.M. de; Lefeber, D.J.; Bokhoven, H. van; Riazuddin, S.

2013-01-01

Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

Directory of Open Access Journals (Sweden)

Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

Energy Technology Data Exchange (ETDEWEB)

Farina, L.; Milanesi, I.; Ciceri, E.; Savoiardo, M. [Dept. of Neuroradiology, Ist. Nazionale Neurologico C. Besta, Milan (Italy); Morandi, L.; Mora, M. [Dept. of Neuromuscular Disorders, Ist. Nazionale Neurologico C. Besta, Milan (Italy); Moroni, I.; Pantaleoni, C. [Dept. of Child Neurology, Ist. Nazionale Neurologico C. Besta, Milan (Italy)

1998-12-01

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin {alpha} 2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin. (orig.) With 4 figs., 11 refs.

Early auditory processing in area V5/MT+ of the congenitally blind brain.

Science.gov (United States)

Watkins, Kate E; Shakespeare, Timothy J; O'Donoghue, M Clare; Alexander, Iona; Ragge, Nicola; Cowey, Alan; Bridge, Holly

2013-11-13

Previous imaging studies of congenital blindness have studied individuals with heterogeneous causes of blindness, which may influence the nature and extent of cross-modal plasticity. Here, we scanned a homogeneous group of blind people with bilateral congenital anophthalmia, a condition in which both eyes fail to develop, and, as a result, the visual pathway is not stimulated by either light or retinal waves. This model of congenital blindness presents an opportunity to investigate the effects of very early visual deafferentation on the functional organization of the brain. In anophthalmic animals, the occipital cortex receives direct subcortical auditory input. We hypothesized that this pattern of subcortical reorganization ought to result in a topographic mapping of auditory frequency information in the occipital cortex of anophthalmic people. Using functional MRI, we examined auditory-evoked activity to pure tones of high, medium, and low frequencies. Activity in the superior temporal cortex was significantly reduced in anophthalmic compared with sighted participants. In the occipital cortex, a region corresponding to the cytoarchitectural area V5/MT+ was activated in the anophthalmic participants but not in sighted controls. Whereas previous studies in the blind indicate that this cortical area is activated to auditory motion, our data show it is also active for trains of pure tone stimuli and in some anophthalmic participants shows a topographic mapping (tonotopy). Therefore, this region appears to be performing early sensory processing, possibly served by direct subcortical input from the pulvinar to V5/MT+.

Key aspects congenital infection

Directory of Open Access Journals (Sweden)

Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

Hearing-impaired child at the pediatrician office from a phoniatrician‘s point of view

International Nuclear Information System (INIS)

Myska, P.

2014-01-01

Early diagnosis of hearing impairment is of crucial importance in a child’s life. For this reason, a pediatrician should perform a hearing exam, along with other necessary specialised tests, immediately after he/she had identified risks of hearing impairment in the newborn‘s anamnesis or had ben warned by the parents about a possible problem. Both the diagnosis of congenital or acquired hearing impairment after birth, and the installment of hearing aids, should take place by the end of the first year in a child’s life at the latest. (author)

Quantifying indices of short- and long-range white matter connectivity at each cortical vertex.

Directory of Open Access Journals (Sweden)

Maria Carmela Padula

Full Text Available Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. After co-registering the extremities of the tractography streamlines with the cortical surface, we computed two measures of connectivity at each cortical vertex: the mean tracts' length, and the proportion of short- and long-range connections. The proposed measures were tested in a clinical sample of 62 patients with 22q11.2 deletion syndrome (22q11DS and 57 typically developing individuals. Using these novel measures, we achieved a fine-grained visualization of the white matter connectivity patterns at each vertex of the cortical surface. We observed an intriguing pattern of both increased and decreased short- and long-range connectivity in 22q11DS, that provides novel information about the nature and topology of white matter alterations in the syndrome. We argue that the method presented in this study opens avenues for additional analyses of the relationship between cortical properties and patterns of underlying structural connectivity, which will help clarifying the intrinsic mechanisms that lead to altered brain structure in neurodevelopmental disorders.

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

Both oophorectomy and obesity impaired solely hippocampal-dependent memory via increased hippocampal dysfunction.

Science.gov (United States)

Mantor, Duangkamol; Pratchayasakul, Wasana; Minta, Wanitchaya; Sutham, Wissuta; Palee, Siripong; Sripetchwandee, Jirapas; Kerdphoo, Sasiwan; Jaiwongkum, Thidarat; Sriwichaiin, Sirawit; Krintratun, Warunsorn; Chattipakorn, Nipon; Chattipakorn, Siriporn C

2018-04-17

Our previous study demonstrated that obesity aggravated peripheral insulin resistance and brain dysfunction in the ovariectomized condition. Conversely, the effect of obesity followed by oophorectomy on brain oxidative stress, brain apoptosis, synaptic function and cognitive function, particularly in hippocampal-dependent and hippocampal-independent memory, has not been investigated. Our hypothesis was that oophorectomy aggravated metabolic impairment, brain dysfunction and cognitive impairment in obese rats. Thirty-two female rats were fed with either a normal diet (ND, n = 16) or a high-fat diet (HFD, n = 16) for a total of 20 weeks. At week 13, rats in each group were subdivided into sham and ovariectomized subgroups (n = 8/subgroup). At week 20, all rats were tested for hippocampal-dependent and hippocampal-independent memory by using Morris water maze test (MWM) and Novel objective recognition (NOR) tests, respectively. We found that the obese-insulin resistant condition occurred in sham-HFD-fed rats (HFS), ovariectomized-ND-fed rats (NDO), and ovariectomized-HFD-fed rats (HFO). Increased hippocampal oxidative stress level, increased hippocampal apoptosis, increased hippocampal synaptic dysfunction, decreased hippocampal estrogen level and impaired hippocampal-dependent memory were observed in HFS, NDO, and HFO rats. However, the hippocampal-independent memory, cortical estrogen levels, cortical ROS production, and cortical apoptosis showed no significant difference between groups. These findings suggested that oophorectomy and obesity exclusively impaired hippocampal-dependent memory, possibly via increased hippocampal dysfunction. Nonetheless, oophorectomy did not aggravate these deleterious effects under conditions of obesity. Copyright © 2017. Published by Elsevier Inc.

Motor features in posterior cortical atrophy and their imaging correlates.

Science.gov (United States)

Ryan, Natalie S; Shakespeare, Timothy J; Lehmann, Manja; Keihaninejad, Shiva; Nicholas, Jennifer M; Leung, Kelvin K; Fox, Nick C; Crutch, Sebastian J

2014-12-01

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by impaired higher visual processing skills; however, motor features more commonly associated with corticobasal syndrome may also occur. We investigated the frequency and clinical characteristics of motor features in 44 PCA patients and, with 30 controls, conducted voxel-based morphometry, cortical thickness, and subcortical volumetric analyses of their magnetic resonance imaging. Prominent limb rigidity was used to define a PCA-motor subgroup. A total of 30% (13) had PCA-motor; all demonstrating asymmetrical left upper limb rigidity. Limb apraxia was more frequent and asymmetrical in PCA-motor, as was myoclonus. Tremor and alien limb phenomena only occurred in this subgroup. The subgroups did not differ in neuropsychological test performance or apolipoprotein E4 allele frequency. Greater asymmetry of atrophy occurred in PCA-motor, particularly involving right frontoparietal and peri-rolandic cortices, putamen, and thalamus. The 9 patients (including 4 PCA-motor) with pathology or cerebrospinal fluid all showed evidence of Alzheimer's disease. Our data suggest that PCA patients with motor features have greater atrophy of contralateral sensorimotor areas but are still likely to have underlying Alzheimer's disease. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Motor features in posterior cortical atrophy and their imaging correlates☆

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Ryan, Natalie S.; Shakespeare, Timothy J.; Lehmann, Manja; Keihaninejad, Shiva; Nicholas, Jennifer M.; Leung, Kelvin K.; Fox, Nick C.; Crutch, Sebastian J.

2014-01-01

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by impaired higher visual processing skills; however, motor features more commonly associated with corticobasal syndrome may also occur. We investigated the frequency and clinical characteristics of motor features in 44 PCA patients and, with 30 controls, conducted voxel-based morphometry, cortical thickness, and subcortical volumetric analyses of their magnetic resonance imaging. Prominent limb rigidity was used to define a PCA-motor subgroup. A total of 30% (13) had PCA-motor; all demonstrating asymmetrical left upper limb rigidity. Limb apraxia was more frequent and asymmetrical in PCA-motor, as was myoclonus. Tremor and alien limb phenomena only occurred in this subgroup. The subgroups did not differ in neuropsychological test performance or apolipoprotein E4 allele frequency. Greater asymmetry of atrophy occurred in PCA-motor, particularly involving right frontoparietal and peri-rolandic cortices, putamen, and thalamus. The 9 patients (including 4 PCA-motor) with pathology or cerebrospinal fluid all showed evidence of Alzheimer's disease. Our data suggest that PCA patients with motor features have greater atrophy of contralateral sensorimotor areas but are still likely to have underlying Alzheimer's disease. PMID:25086839

Altered retrieval of melodic information in congenital amusia: insights from dynamic causal modeling of MEG data.

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Albouy, Philippe; Mattout, Jérémie; Sanchez, Gaëtan; Tillmann, Barbara; Caclin, Anne

2015-01-01

Congenital amusia is a neuro-developmental disorder that primarily manifests as a difficulty in the perception and memory of pitch-based materials, including music. Recent findings have shown that the amusic brain exhibits altered functioning of a fronto-temporal network during pitch perception and short-term memory. Within this network, during the encoding of melodies, a decreased right backward frontal-to-temporal connectivity was reported in amusia, along with an abnormal connectivity within and between auditory cortices. The present study investigated whether connectivity patterns between these regions were affected during the short-term memory retrieval of melodies. Amusics and controls had to indicate whether sequences of six tones that were presented in pairs were the same or different. When melodies were different only one tone changed in the second melody. Brain responses to the changed tone in "Different" trials and to its equivalent (original) tone in "Same" trials were compared between groups using Dynamic Causal Modeling (DCM). DCM results confirmed that congenital amusia is characterized by an altered effective connectivity within and between the two auditory cortices during sound processing. Furthermore, right temporal-to-frontal message passing was altered in comparison to controls, with notably an increase in "Same" trials. An additional analysis in control participants emphasized that the detection of an unexpected event in the typically functioning brain is supported by right fronto-temporal connections. The results can be interpreted in a predictive coding framework as reflecting an abnormal prediction error sent by temporal auditory regions towards frontal areas in the amusic brain.

Altered retrieval of melodic information in congenital amusia: Insights from Dynamic Causal Modeling of MEG data

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Philippe eAlbouy

2015-02-01

Full Text Available Congenital amusia is a neuro-developmental disorder that primarily manifests as a difficulty in the perception and memory of pitch-based materials, including music. Recent findings have shown that the amusic brain exhibits altered functioning of a fronto-temporal network during pitch perception and memory. Within this network, during the encoding of melodies, a decreased right backward frontal-to-temporal connectivity was reported in amusia, along with an abnormal connectivity within and between auditory cortices. The present study investigated whether connectivity patterns between these regions were affected during the retrieval of melodies. Amusics and controls had to indicate whether sequences of six tones that were presented in pairs were the same or different. When melodies were different only one tone changed in the second melody. Brain responses to the changed tone in Different trials and to its equivalent (original tone in Same trials were compared between groups using Dynamic Causal Modeling (DCM. DCM results confirmed that congenital amusia is characterized by an altered effective connectivity within and between the two auditory cortices during sound processing. Furthermore, right temporal-to-frontal message passing was altered in comparison to controls, with an increase in Same trials and a decrease in Different trials. An additional analysis in control participants emphasized that the detection of an unexpected event in the typically functioning brain is supported by right fronto-temporal connections. The results can be interpreted in a predictive coding framework as reflecting an abnormal prediction error sent by temporal auditory regions towards frontal areas in the amusic brain.

A FRMD7 variant in a Japanese family causes congenital nystagmus.

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Kohmoto, Tomohiro; Okamoto, Nana; Satomura, Shigeko; Naruto, Takuya; Komori, Takahide; Hashimoto, Toshiaki; Imoto, Issei

2015-01-01

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

Congenital heart disease

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Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Genetics Home Reference: congenital hypothyroidism

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... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

[Neonatal tumours and congenital malformations].

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Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Somatosensory cortices are required for the acquisition of morphine-induced conditioned place preference.

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Zhiqiang Meng

Full Text Available BACKGROUND: Sensory system information is thought to play an important role in drug addiction related responses. However, how somatic sensory information participates in the drug related behaviors is still unclear. Many studies demonstrated that drug addiction represents a pathological usurpation of neural mechanisms of learning and memory that normally relate to the pursuit of rewards. Thus, elucidate the role of somatic sensory in drug related learning and memory is of particular importance to understand the neurobiological mechanisms of drug addiction. PRINCIPAL FINDINGS: In the present study, we investigated the role of somatosensory system in reward-related associative learning using the conditioned place preference model. Lesions were made in somatosensory cortices either before or after conditioning training. We found that lesion of somatosensory cortices before, rather than after morphine conditioning impaired the acquisition of place preference. CONCLUSION: These results demonstrate that somatosensory cortices are necessary for the acquisition but not retention of morphine induced place preference.

Dance Experience and Associations with Cortical Gray Matter Thickness in the Aging Population.

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Porat, Shai; Goukasian, Naira; Hwang, Kristy S; Zanto, Theodore; Do, Triet; Pierce, Jonathan; Joshi, Shantanu; Woo, Ellen; Apostolova, Liana G

2016-01-01

We investigated the effect dance experience may have on cortical gray matter thickness and cognitive performance in elderly participants with and without mild cognitive impairment (MCI). 39 cognitively normal and 48 MCI elderly participants completed a questionnaire regarding their lifetime experience with music, dance, and song. Participants identified themselves as either dancers or nondancers. All participants received structural 1.5-tesla MRI scans and detailed clinical and neuropsychological evaluations. An advanced 3D cortical mapping technique was then applied to calculate cortical thickness. Despite having a trend-level significantly thinner cortex, dancers performed better in cognitive tasks involving learning and memory, such as the California Verbal Learning Test-II (CVLT-II) short delay free recall (p = 0.004), the CVLT-II long delay free recall (p = 0.003), and the CVLT-II learning over trials 1-5 (p = 0.001). Together, these results suggest that dance may result in an enhancement of cognitive reserve in aging, which may help avert or delay MCI.

Congenital heat disease

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Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

MILD COGNITIVE IMPAIRMENT: STRUCTURAL, METABOLICAL AND NEUROPHYSIOLOGICAL EVIDENCE OF A NOVEL EEG BIOMARKER

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Davide Vito Moretti

2015-07-01

Full Text Available Background: recent studies demonstrate that the alpha 3/alpha 2 power ratio correlates with cortical atrophy, regional hypoperfusion and memory impairment in subjects with mild cognitive impairment (MCI.Methods: evidences were reviewed in subjects with MCI who underwent EEG recording, Magnetic Resonance Imaging (MRI scans and memory evaluation. Alpha3/alpha2 power ratio (alpha2 8.9–10.9 Hz range; alpha3 10.9–12.9 Hz range, cortical thickness, linear EEG coherence and memory impairment have been evaluated in a large group of 74 patients. A subset of 27 subjects within the same group underwent also Single Photon Emission Computed Tomography (SPECT evaluation. Results: in MCI subjects with higher EEG upper/low alpha power ratio a greater temporo-parietal and hippocampal atrophy was found as well as a decrease in regional blood perfusion and memory impairment. In this group, an increase of theta oscillations is associated with a greater interhemispheric coupling between temporal areas. Conclusion: the increase of alpha3/alpha2 power ratio is a promising novel biomarker in identifying MCI subjects at risk for Alzheimer’s disease

Interaction of Dual Sensory Loss, Cognitive Function, and Communication in People Who Are Congenitally Deaf-Blind

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Dammeyer, Jesper

2010-01-01

It is well known that the development of social interaction and communication is important for the development of children and adults who are congenitally deaf-blind, and the development depends on the skills of a partner (such as a teacher of students with visual impairments, a teacher of students who are deaf and hard of hearing, and parents) in…

The role of gamma-band activity in the representation of faces: reduced activity in the fusiform face area in congenital prosopagnosia.

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Christian Dobel

2011-05-01

Full Text Available Congenital prosopagnosia (CP describes an impairment in face processing that is presumably present from birth. The neuronal correlates of this dysfunction are still under debate. In the current paper, we investigate high-frequent oscillatory activity in response to faces in persons with CP. Such neuronal activity is thought to reflect higher-level representations for faces.Source localization of induced Gamma-Band Responses (iGBR measured by magnetoencephalography (MEG was used to establish the origin of oscillatory activity in response to famous and unknown faces which were presented in upright and inverted orientation. Persons suffering from congenital prosopagnosia (CP were compared to matched controls.Corroborating earlier research, both groups revealed amplified iGBR in response to upright compared to inverted faces predominately in a time interval between 170 and 330 ms and in a frequency range from 50-100 Hz. Oscillatory activity upon known faces was smaller in comparison to unknown faces, suggesting a "sharpening" effect reflecting more efficient processing for familiar stimuli. These effects were seen in a wide cortical network encompassing temporal and parietal areas involved in the disambiguation of homogenous stimuli such as faces, and in the retrieval of semantic information. Importantly, participants suffering from CP displayed a strongly reduced iGBR in the left fusiform area compared to control participants.In sum, these data stress the crucial role of oscillatory activity for face representation and demonstrate the involvement of a distributed occipito-temporo-parietal network in generating iGBR. This study also provides the first evidence that persons suffering from an agnosia actually display reduced gamma band activity. Finally, the results argue strongly against the view that oscillatory activity is a mere epiphenomenon brought fourth by rapid eye-movements (micro saccades.

Impaired Cognition in Rats with Cortical Dysplasia: Additional Impact of Early-Life Seizures

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Lucas, Marcella M.; Lenck-Santini, Pierre-Pascal; Holmes, Gregory L.; Scott, Rod C.

2011-01-01

One of the most common and serious co-morbidities in patients with epilepsy is cognitive impairment. While early-life seizures are considered a major cause for cognitive impairment, it is not known whether it is the seizures, the underlying neurological substrate or a combination that has the largest impact on eventual learning and memory. Teasing…

Acetylcholine esterase activity in mild cognitive impairment and Alzheimer's disease

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Herholz, Karl

2008-01-01

Impairment of cholinergic neurotransmission is a well-established fact in Alzheimer's disease (AD), but there is controversy about its relevance at the early stages of the disease and in mild cognitive impairment (MCI). In vivo positron emission tomography imaging of cortical acetylcholine esterase (AChE) activity as a marker of cholinergic innervation that is expressed by cholinergic axons and cholinoceptive neurons has demonstrated a reduction of this enzyme activity in manifest AD. The technique is also useful to measure the inhibition of cerebral AChE induced by cholinesterase inhibitors for treatment of dementia symptoms. A reduction of cortical AchE activity was found consistently in all studies of AD and in few cases of MCI who later concerted to AD. The in vivo findings in MCI and very mild AD are still preliminary, and studies seem to suggest that cholinergic innervation and AChE as the main degrading enzyme are both reduced, which might result in partial compensation of their effect. (orig.)

Congenital orbital teratoma.

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Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Congenital orbital teratoma

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Shereen Aiyub

2013-01-01

Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Tc-99m DTPA and Tc-99m DMSA renal scan findings in patients with congenital megacalyces and megaureter without urinary tract obstruction

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Ahn, Byeong Cheol; Bae, Jin Ho; Jeong, Sin Young; Lee, Jae Tae; Lee, Kyu Bo

2003-01-01

A 10 days old male infant with congenital megacalyces and megaureter, diagnosed by prenatal ultrasonographic screening, underwent Tc-99m DTPA renal scan for evaluation of urinary tract patency, Tc-99m DMSA scan for evaluation of renal cortical damage. He also underwent intravenous urography(IVU) and renal ultrasonography. Tc-99m DTPA renal scan demonstrates intense tracer accumulation in enlarged both renal pelvocalyses and ureters, which rapidly washout diuretics administration. Tc-99m DMSA renal cortical scan shows no remarkable photon defect in both renal cortices and visible tracer uptake in both megaureter areas. Ultasonographic and IVU studies show enlarged both renal calyses and bullously dilated ureters, but no dilatation in renal pelvis. Follow up Tc-99m DTPA renal scan, performed at one year later, also reveals intense tracer accumulation in enlarged both urinary tracts which rapidly washout without diuretics, and shows no significant change compare to the previous Tc-99m DTPA renal scan. Urinary tract obstruction and renal cortical damage can be easily evaluated with Tc-99m DTPA and Tc-99m DMSA scans in patients with megacalyces and megaureter

Tc-99m DTPA and Tc-99m DMSA renal scan findings in patients with congenital megacalyces and megaureter without urinary tract obstruction

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Ahn, Byeong Cheol; Bae, Jin Ho; Jeong, Sin Young; Lee, Jae Tae; Lee, Kyu Bo [Kyungpook National University Medical School, Daegu (Korea, Republic of)

2003-06-01

A 10 days old male infant with congenital megacalyces and megaureter, diagnosed by prenatal ultrasonographic screening, underwent Tc-99m DTPA renal scan for evaluation of urinary tract patency, Tc-99m DMSA scan for evaluation of renal cortical damage. He also underwent intravenous urography(IVU) and renal ultrasonography. Tc-99m DTPA renal scan demonstrates intense tracer accumulation in enlarged both renal pelvocalyses and ureters, which rapidly washout diuretics administration. Tc-99m DMSA renal cortical scan shows no remarkable photon defect in both renal cortices and visible tracer uptake in both megaureter areas. Ultasonographic and IVU studies show enlarged both renal calyses and bullously dilated ureters, but no dilatation in renal pelvis. Follow up Tc-99m DTPA renal scan, performed at one year later, also reveals intense tracer accumulation in enlarged both urinary tracts which rapidly washout without diuretics, and shows no significant change compare to the previous Tc-99m DTPA renal scan. Urinary tract obstruction and renal cortical damage can be easily evaluated with Tc-99m DTPA and Tc-99m DMSA scans in patients with megacalyces and megaureter.

Advances in visual correction and postoperative visual treatment of congenital cataract

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Lin Mei

2014-04-01

Full Text Available Congenital cataract is one of the important diseases that cause irreversible visual impairment on children. Compared with adult cataract, the surgery of congenital cataract is more complicated and the complications are more severer, especially the postoperative amblyopia often leads to bad prognosis. Therefore, the postoperative treatment is necessary to obtain the better visual outcome. The traditional visual correction methods after surgery include the combined use of spectacles, contact lens, and intraocular lens(IOL, but some problems such as IOL power calculation and IOL implantation time are still controversial. Besides, occlusion therapy and visual training are also essential for preventing amblyopia after cataract surgery. Occlusion in an appropriate dose and course must be mastered, accompanied by visual training. Both of the operative eyes and normal eyes will be able to achieve much better visual acuity and color sensitivity, so that the binocular vision can recover and develop as normal function.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

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Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.

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Rawlinson, William D; Boppana, Suresh B; Fowler, Karen B; Kimberlin, David W; Lazzarotto, Tiziana; Alain, Sophie; Daly, Kate; Doutré, Sara; Gibson, Laura; Giles, Michelle L; Greenlee, Janelle; Hamilton, Stuart T; Harrison, Gail J; Hui, Lisa; Jones, Cheryl A; Palasanthiran, Pamela; Schleiss, Mark R; Shand, Antonia W; van Zuylen, Wendy J

2017-06-01

Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelines impairs global efforts to decrease the effect of congenital cytomegalovirus. Data in the literature suggest that congenital cytomegalovirus infection remains a research priority, but data are yet to be translated into clinical practice. An informal International Congenital Cytomegalovirus Recommendations Group was convened in 2015 to address these questions and to provide recommendations for prevention, diagnosis, and treatment. On the basis of consensus discussions and a review of the literature, we do not support universal screening of mothers and the routine use of cytomegalovirus immunoglobulin for prophylaxis or treatment of infected mothers. However, treatment guidelines for infected neonates were recommended. Consideration must be given to universal neonatal screening for cytomegalovirus to facilitate early detection and intervention for sensorineural hearing loss and developmental delay, where appropriate. The group agreed that education and prevention strategies for mothers were beneficial, and that recommendations will need continual updating as further data become available. Copyright © 2017 Elsevier Ltd. All rights reserved.

SLEEP AND OLFACTORY CORTICAL PLASTICITY

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Dylan eBarnes

2014-04-01

Full Text Available In many systems, sleep plays a vital role in memory consolidation and synaptic homeostasis. These processes together help store information of biological significance and reset synaptic circuits to facilitate acquisition of information in the future. In this review, we describe recent evidence of sleep-dependent changes in olfactory system structure and function which contribute to odor memory and perception. During slow-wave sleep, the piriform cortex becomes hypo-responsive to odor stimulation and instead displays sharp-wave activity similar to that observed within the hippocampal formation. Furthermore, the functional connectivity between the piriform cortex and other cortical and limbic regions is enhanced during slow-wave sleep compared to waking. This combination of conditions may allow odor memory consolidation to occur during a state of reduced external interference and facilitate association of odor memories with stored hedonic and contextual cues. Evidence consistent with sleep-dependent odor replay within olfactory cortical circuits is presented. These data suggest that both the strength and precision of odor memories is sleep-dependent. The work further emphasizes the critical role of synaptic plasticity and memory in not only odor memory but also basic odor perception. The work also suggests a possible link between sleep disturbances that are frequently co-morbid with a wide range of pathologies including Alzheimer’s disease, schizophrenia and depression and the known olfactory impairments associated with those disorders.

Congenital cytomegalovirus infection

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Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care.

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Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

2017-01-01

In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness. We compared clinical characteristics and cerebrospinal fluid distribution among 85 patients diagnosed with idiopathic NPH, 17 patients with secondary NPH, and 7 patients with adult-onset congenital NPH. All patients underwent 3-T MRI examinations and tap-tests. The volumes of ventricles and subarachnoid spaces were measured using a 3D workstation based on T2-weighted 3D sequences. The mean intracranial volume for the patients with adult-onset congenital NPH was almost 100 mL larger than the volumes for patients with idiopathic and secondary NPH. Compared with the patients with idiopathic or secondary NPH, patients with adult-onset congenital NPH exhibited larger ventricles but normal sized subarachnoid spaces. The mean volume ratio of the high-convexity subarachnoid space was significantly less in idiopathic NPH than in adult-onset congenital NPH, whereas the mean volume ratio of the basal cistern and Sylvian fissure in idiopathic NPH was >2 times larger than that in adult-onset congenital NPH. The symptoms of gait disturbance, cognitive impairment, and urinary incontinence in patients with adult-onset congenital NPH tended to progress more slowly compared to their progress in patients with idiopathic NPH. Cerebrospinal fluid distributions and

Spatial localization deficits and auditory cortical dysfunction in schizophrenia

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Perrin, Megan A.; Butler, Pamela D.; DiCostanzo, Joanna; Forchelli, Gina; Silipo, Gail; Javitt, Daniel C.

2014-01-01

Background Schizophrenia is associated with deficits in the ability to discriminate auditory features such as pitch and duration that localize to primary cortical regions. Lesions of primary vs. secondary auditory cortex also produce differentiable effects on ability to localize and discriminate free-field sound, with primary cortical lesions affecting variability as well as accuracy of response. Variability of sound localization has not previously been studied in schizophrenia. Methods The study compared performance between patients with schizophrenia (n=21) and healthy controls (n=20) on sound localization and spatial discrimination tasks using low frequency tones generated from seven speakers concavely arranged with 30 degrees separation. Results For the sound localization task, patients showed reduced accuracy (p=0.004) and greater overall response variability (p=0.032), particularly in the right hemifield. Performance was also impaired on the spatial discrimination task (p=0.018). On both tasks, poorer accuracy in the right hemifield was associated with greater cognitive symptom severity. Better accuracy in the left hemifield was associated with greater hallucination severity on the sound localization task (p=0.026), but no significant association was found for the spatial discrimination task. Conclusion Patients show impairments in both sound localization and spatial discrimination of sounds presented free-field, with a pattern comparable to that of individuals with right superior temporal lobe lesions that include primary auditory cortex (Heschl’s gyrus). Right primary auditory cortex dysfunction may protect against hallucinations by influencing laterality of functioning. PMID:20619608

Prevalence of congenital amusia.

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Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

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Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Congenital Heart Defects and CCHD

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... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Cortical tremor: a variant of cortical reflex myoclonus.

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Ikeda, A; Kakigi, R; Funai, N; Neshige, R; Kuroda, Y; Shibasaki, H

1990-10-01

Two patients with action tremor that was thought to originate in the cerebral cortex showed fine shivering-like finger twitching provoked mainly by action and posture. Surface EMG showed relatively rhythmic discharge at a rate of about 9 Hz, which resembled essential tremor. However, electrophysiologic studies revealed giant somatosensory evoked potentials (SEPs) with enhanced long-loop reflex and premovement cortical spike by the jerk-locked averaging method. Treatment with beta-blocker showed no effect, but anticonvulsants such as clonazepam, valproate, and primidone were effective to suppress the tremor and the amplitude of SEPs. We call this involuntary movement "cortical tremor," which is in fact a variant of cortical reflex myoclonus.

Cortical deficits of emotional face processing in adults with ADHD: its relation to social cognition and executive function.

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Ibáñez, Agustin; Petroni, Agustin; Urquina, Hugo; Torrente, Fernando; Torralva, Teresa; Hurtado, Esteban; Guex, Raphael; Blenkmann, Alejandro; Beltrachini, Leandro; Muravchik, Carlos; Baez, Sandra; Cetkovich, Marcelo; Sigman, Mariano; Lischinsky, Alicia; Manes, Facundo

2011-01-01

Although it has been shown that adults with attention-deficit hyperactivity disorder (ADHD) have impaired social cognition, no previous study has reported the brain correlates of face valence processing. This study looked for behavioral, neuropsychological, and electrophysiological markers of emotion processing for faces (N170) in adult ADHD compared to controls matched by age, gender, educational level, and handedness. We designed an event-related potential (ERP) study based on a dual valence task (DVT), in which faces and words were presented to test the effects of stimulus type (faces, words, or face-word stimuli) and valence (positive versus negative). Individual signatures of cognitive functioning in participants with ADHD and controls were assessed with a comprehensive neuropsychological evaluation, including executive functioning (EF) and theory of mind (ToM). Compared to controls, the adult ADHD group showed deficits in N170 emotion modulation for facial stimuli. These N170 impairments were observed in the absence of any deficit in facial structural processing, suggesting a specific ADHD impairment in early facial emotion modulation. The cortical current density mapping of N170 yielded a main neural source of N170 at posterior section of fusiform gyrus (maximum at left hemisphere for words and right hemisphere for faces and simultaneous stimuli). Neural generators of N170 (fusiform gyrus) were reduced in ADHD. In those patients, N170 emotion processing was associated with performance on an emotional inference ToM task, and N170 from simultaneous stimuli was associated with EF, especially working memory. This is the first report to reveal an adult ADHD-specific impairment in the cortical modulation of emotion for faces and an association between N170 cortical measures and ToM and EF.

Cortical Responses to Chinese Phonemes in Preschoolers Predict Their Literacy Skills at School Age.

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Hong, Tian; Shuai, Lan; Frost, Stephen J; Landi, Nicole; Pugh, Kenneth R; Shu, Hua

2018-01-01

We investigated whether preschoolers with poor phonological awareness (PA) skills had impaired cortical basis for detecting speech feature, and whether speech perception influences future literacy outcomes in preschoolers. We recorded ERP responses to speech in 52 Chinese preschoolers. The results showed that the poor PA group processed speech changes differentially compared to control group in mismatch negativity (MMN) and late discriminative negativity (LDN). Furthermore, speech perception in kindergarten could predict literacy outcomes after literacy acquisition. These suggest that impairment in detecting speech features occurs before formal reading instruction, and that speech perception plays an important role in reading development.

Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?

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Cannon, Michael J; Griffiths, Paul D; Aston, Van; Rawlinson, William D

2014-09-01

Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions. Copyright © 2014 John Wiley & Sons, Ltd.

Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia

OpenAIRE

Kolahdouz, Mahsa; Mohammadi, Zahra; Kolahdouz, Parisa; Tajamolian, Masoud; Khanahmad, Hossein

2015-01-01

Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impairment with prevalence value of 1 in 10,000?15,000 live births is the most common etiology of CAH. Because of consanguineous marriages, the frequency of the CAH in Iran is very high. A wide range of...

Impairment of Procedural Learning and Motor Intracortical Inhibition in Neurofibromatosis Type 1 Patients

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Máximo Zimerman

2015-10-01

Interpretations: Collectively, the present results provide evidence that learning of a motor skill is impaired even in clinically intact NF1 patients based, at least partially, on a GABAergic-cortical dysfunctioning as suggested in previous animal work.

Age effects on cortical thickness in young Down's syndrome subjects: a cross-sectional gender study

International Nuclear Information System (INIS)

Romano, Andrea; Moraschi, Marta; Cornia, Riccardo; Stella, Giacomo; Bozzao, Alessandro; Gagliardo, Olga; Chiacchiararelli, Laura; Iani, Cristina; Albertini, Giorgio; Pierallini, Alberto

2015-01-01

The aim of this study was to determine differences in the characteristic pattern of age-related cortical thinning in men and women with Down's syndrome (DS) by means of MRI and automatic cortical thickness measurements and a cross-sectional design, in a large cohort of young subjects. Eighty-four subjects with DS, 30 females (11-35 years, mean age ± SD = 22.8 ± 5.9) and 54 males (11-35 years, mean age ± SD = 21.5 ± 6.5), were examined using a 1.5-T scanner. MRI-based quantification of cortical thickness was performed using FreeSurfer software package. For all subjects participating in the study, the Pearson product-moment correlation coefficient between age and mean cortical thickness values has been evaluated. A significant negative correlation between cortical thickness and age was found in female DS subjects, predominantly in frontal and parietal lobes, bilaterally. In male DS subjects, a significant negative correlation between cortical thickness and age was found in the right fronto-temporal lobes and cingulate regions. Whole brain mean cortical thickness values were significantly negative correlated with age only in female DS subjects. Females with Down's syndrome showed a strong correlation between cortical thickness and age, already in early age. We suggest that the cognitive impairment due to hormonal deficit in the postmenopausal period could be emphasized by the early structural decline of gray matter in female DS subjects. (orig.)

Age effects on cortical thickness in young Down's syndrome subjects: a cross-sectional gender study

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Romano, Andrea; Moraschi, Marta [San Raffaele Foundation Rome, Rehabilitation Facility Ceglie Messapica, Rome (Italy); Cornia, Riccardo; Stella, Giacomo [University of Modena and Reggio Emilia, Department of Education and Human Sciences, Emilia-Romagna (Italy); Bozzao, Alessandro; Gagliardo, Olga [University Sapienza, NESMOS, Department of Neuroradiology, S. Andrea Hospital, Rome (Italy); Chiacchiararelli, Laura [University Sapienza, Department of Medical Physics, S. Andrea Hospital, Rome (Italy); Iani, Cristina [University of Modena and Reggio Emilia, Department of Communication and Economy, Emilia-Romagna (Italy); Albertini, Giorgio [IRCSS San Raffaele Pisana, Department of Paediatrics, Rome (Italy); Pierallini, Alberto [IRCSS San Raffaele Pisana, Department of Radiology, Rome (Italy)

2015-04-01

The aim of this study was to determine differences in the characteristic pattern of age-related cortical thinning in men and women with Down's syndrome (DS) by means of MRI and automatic cortical thickness measurements and a cross-sectional design, in a large cohort of young subjects. Eighty-four subjects with DS, 30 females (11-35 years, mean age ± SD = 22.8 ± 5.9) and 54 males (11-35 years, mean age ± SD = 21.5 ± 6.5), were examined using a 1.5-T scanner. MRI-based quantification of cortical thickness was performed using FreeSurfer software package. For all subjects participating in the study, the Pearson product-moment correlation coefficient between age and mean cortical thickness values has been evaluated. A significant negative correlation between cortical thickness and age was found in female DS subjects, predominantly in frontal and parietal lobes, bilaterally. In male DS subjects, a significant negative correlation between cortical thickness and age was found in the right fronto-temporal lobes and cingulate regions. Whole brain mean cortical thickness values were significantly negative correlated with age only in female DS subjects. Females with Down's syndrome showed a strong correlation between cortical thickness and age, already in early age. We suggest that the cognitive impairment due to hormonal deficit in the postmenopausal period could be emphasized by the early structural decline of gray matter in female DS subjects. (orig.)

Loss of MeCP2 From Forebrain Excitatory Neurons Leads to Cortical Hyperexcitation and Seizures

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Zhang, Wen; Peterson, Matthew; Beyer, Barbara; Frankel, Wayne N.

2014-01-01

Mutations of MECP2 cause Rett syndrome (RTT), a neurodevelopmental disorder leading to loss of motor and cognitive functions, impaired social interactions, and seizure at young ages. Defects of neuronal circuit development and function are thought to be responsible for the symptoms of RTT. The majority of RTT patients show recurrent seizures, indicating that neuronal hyperexcitation is a common feature of RTT. However, mechanisms underlying hyperexcitation in RTT are poorly understood. Here we show that deletion of Mecp2 from cortical excitatory neurons but not forebrain inhibitory neurons in the mouse leads to spontaneous seizures. Selective deletion of Mecp2 from excitatory but not inhibitory neurons in the forebrain reduces GABAergic transmission in layer 5 pyramidal neurons in the prefrontal and somatosensory cortices. Loss of MeCP2 from cortical excitatory neurons reduces the number of GABAergic synapses in the cortex, and enhances the excitability of layer 5 pyramidal neurons. Using single-cell deletion of Mecp2 in layer 2/3 pyramidal neurons, we show that GABAergic transmission is reduced in neurons without MeCP2, but is normal in neighboring neurons with MeCP2. Together, these results suggest that MeCP2 in cortical excitatory neurons plays a critical role in the regulation of GABAergic transmission and cortical excitability. PMID:24523563

Congenital malaria in China.

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Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

Identification of Changes along a Continuum of Speech Intonation is Impaired in Congenital Amusia.

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Hutchins, Sean; Gosselin, Nathalie; Peretz, Isabelle

2010-01-01

A small number of individuals have severe musical problems that have neuro-genetic underpinnings. This musical disorder is termed "congenital amusia," an umbrella term for lifelong musical disabilities that cannot be attributed to deafness, lack of exposure, or brain damage after birth. Amusics seem to lack the ability to detect fine pitch differences in tone sequences. However, differences between statements and questions, which vary in final pitch, are well perceived by most congenital amusic individuals. We hypothesized that the origin of this apparent domain-specificity of the disorder lies in the range of pitch variations, which are very coarse in speech as compared to music. Here, we tested this hypothesis by using a continuum of gradually increasing final pitch in both speech and tone sequences. To this aim, nine amusic cases and nine matched controls were presented with statements and questions that varied on a pitch continuum from falling to rising in 11 steps. The sentences were either naturally spoken or were tone sequence versions of these. The task was to categorize the sentences as statements or questions and the tone sequences as falling or rising. In each case, the observation of an S-shaped identification function indicates that amusics can accurately identify unambiguous examples of statements and questions but have problems with fine variations between these endpoints. Thus, the results indicate that a deficient pitch perception might compromise music, not because it is specialized for that domain but because music requirements are more fine-grained.

[Identification of risk factors for congenital malformations].

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Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Congenital platelet function defects

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... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

Spatiotemporal Propagation of the Cortical Atrophy: Population and Individual Patterns

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Igor Koval

2018-05-01

Full Text Available Repeated failures in clinical trials for Alzheimer’s disease (AD have raised a strong interest for the prodromal phase of the disease. A better understanding of the brain alterations during this early phase is crucial to diagnose patients sooner, to estimate an accurate disease stage, and to give a reliable prognosis. According to recent evidence, structural alterations in the brain are likely to be sensitive markers of the disease progression. Neuronal loss translates in specific spatiotemporal patterns of cortical atrophy, starting in the enthorinal cortex and spreading over other cortical regions according to specific propagation pathways. We developed a digital model of the cortical atrophy in the left hemisphere from prodromal to diseased phases, which is built on the temporal alignment and combination of several short-term observation data to reconstruct the long-term history of the disease. The model not only provides a description of the spatiotemporal patterns of cortical atrophy at the group level but also shows the variability of these patterns at the individual level in terms of difference in propagation pathways, speed of propagation, and age at propagation onset. Longitudinal MRI datasets of patients with mild cognitive impairments who converted to AD are used to reconstruct the cortical atrophy propagation across all disease stages. Each observation is considered as a signal spatially distributed on a network, such as the cortical mesh, each cortex location being associated to a node. We consider how the temporal profile of the signal varies across the network nodes. We introduce a statistical mixed-effect model to describe the evolution of the cortex alterations. To ensure a spatiotemporal smooth propagation of the alterations, we introduce a constrain on the propagation signal in the model such that neighboring nodes have similar profiles of the signal changes. Our generative model enables the reconstruction of personalized

General Concepts in Adult Congenital Heart Disease.

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Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Role of nitric oxide and prostaglandin in the maintenance of cortical and renal medullary blood flow

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S.I Gomez

2008-02-01

Full Text Available This study was undertaken in anesthetized dogs to evaluate the relative participation of prostaglandins (PGs and nitric oxide (NO in the maintenance of total renal blood flow (TRBF, and renal medullary blood flow (RMBF. It was hypothesized that the inhibition of NO should impair cortical and medullary circulation because of the synthesis of this compound in the endothelial cells of these two territories. In contrast, under normal conditions of perfusion pressure PG synthesis is confined to the renal medulla. Hence PG inhibition should predominantly impair the medullary circulation. The initial administration of 25 µM kg-1 min-1 NG-nitro-L-arginine methyl ester produced a significant 26% decrease in TRBF and a concomitant 34% fall in RMBF, while the subsequent inhibition of PGs with 5 mg/kg meclofenamate further reduced TRBF by 33% and RMBF by 89%. In contrast, the initial administration of meclofenamate failed to change TRBF, while decreasing RMBF by 49%. The subsequent blockade of NO decreased TRBF by 35% without further altering RMBF. These results indicate that initial PG synthesis inhibition predominantly alters the medullary circulation, whereas NO inhibition decreases both cortical and medullary flow. This latter change induced by NO renders cortical and RMBF susceptible to a further decrease by PG inhibition. However, the decrease in medullary circulation produced by NO inhibition is not further enhanced by subsequent PG inhibition.

Study of placenta of children born with congenital malformations.

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Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

Intonation processing in congenital amusia: discrimination, identification and imitation.

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Liu, Fang; Patel, Aniruddh D; Fourcin, Adrian; Stewart, Lauren

2010-06-01

This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing. In total, 16 British amusics and 16 matched controls completed five intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance on discrimination, identification and imitation of statements and questions that were characterized primarily by pitch direction differences in the final word. This intonation-processing deficit in amusia was largely associated with a psychophysical pitch direction discrimination deficit. These findings suggest that amusia impacts upon one's language abilities in subtle ways, and support previous evidence that pitch processing in language and music involves shared mechanisms.

Extent of cortical involvement in amyotrophic lateral sclerosis--an analysis based on cortical thickness.

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Thorns, Johannes; Jansma, Henk; Peschel, Thomas; Grosskreutz, Julian; Mohammadi, Bahram; Dengler, Reinhard; Münte, Thomas F

2013-10-18

Besides the defining involvement of upper and lower motor neurons, the involvement of extramotor structures has been increasingly acknowledged in amyotrophic lateral sclerosis (ALS). Here we investigated a group of 14 mildly to moderately affected ALS patients and 14 age-matched healthy control participants using cortical thickness analysis. Cortical thickness was determined from high resolution 3D T1 magnetic resonance images and involved semiautomatic segmentation in grey and white matter, cortical alignment and determination of thickness using the Laplace method. In addition to a whole-cortex analysis a region of interest approach was applied. ALS patients showed regions of significant cortical thinning in the pre- and postcentral gyri bilaterally. Further regions of cortical thinning included superior and inferior parietal lobule, angular and supramarginal gyrus, insula, superior frontal, temporal and occipital regions, thus further substantiating extramotor involvement in ALS. A relationship between cortical thickness of the right superior frontal cortex and clinical severity (assessed by the ALS functional rating scale) was also demonstrated. Cortical thickness is reduced in ALS not only in motor areas but in widespread non-motor cortical areas. Cortical thickness is related to clinical severity.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

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Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

The Right Hemisphere Planum Temporale Supports Enhanced Visual Motion Detection Ability in Deaf People: Evidence from Cortical Thickness.

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Shiell, Martha M; Champoux, François; Zatorre, Robert J

2016-01-01

After sensory loss, the deprived cortex can reorganize to process information from the remaining modalities, a phenomenon known as cross-modal reorganization. In blind people this cross-modal processing supports compensatory behavioural enhancements in the nondeprived modalities. Deaf people also show some compensatory visual enhancements, but a direct relationship between these abilities and cross-modally reorganized auditory cortex has only been established in an animal model, the congenitally deaf cat, and not in humans. Using T1-weighted magnetic resonance imaging, we measured cortical thickness in the planum temporale, Heschl's gyrus and sulcus, the middle temporal area MT+, and the calcarine sulcus, in early-deaf persons. We tested for a correlation between this measure and visual motion detection thresholds, a visual function where deaf people show enhancements as compared to hearing. We found that the cortical thickness of a region in the right hemisphere planum temporale, typically an auditory region, was greater in deaf individuals with better visual motion detection thresholds. This same region has previously been implicated in functional imaging studies as important for functional reorganization. The structure-behaviour correlation observed here demonstrates this area's involvement in compensatory vision and indicates an anatomical correlate, increased cortical thickness, of cross-modal plasticity.

Congenital Heart Information Network

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... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Disrupted Thalamus White Matter Anatomy and Posterior Default Mode Network Effective Connectivity in Amnestic Mild Cognitive Impairment

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Thomas Alderson

2017-11-01

Full Text Available Alzheimer’s disease (AD and its prodromal state amnestic mild cognitive impairment (aMCI are characterized by widespread abnormalities in inter-areal white matter fiber pathways and parallel disruption of default mode network (DMN resting state functional and effective connectivity. In healthy subjects, DMN and task positive network interaction are modulated by the thalamus suggesting that abnormal task-based DMN deactivation in aMCI may be a consequence of impaired thalamo-cortical white matter circuitry. Thus, this article uses a multimodal approach to assess white matter integrity between thalamus and DMN components and associated effective connectivity in healthy controls (HCs relative to aMCI patients. Twenty-six HC and 20 older adults with aMCI underwent structural, functional and diffusion MRI scanning using the high angular resolution diffusion-weighted acquisition protocol. The DMN of each subject was identified using independent component analysis (ICA and resting state effective connectivity was calculated between thalamus and DMN nodes. White matter integrity changes between thalamus and DMN were investigated with constrained spherical deconvolution (CSD tractography. Significant structural deficits in thalamic white matter projection fibers to posterior DMN components posterior cingulate cortex (PCC and lateral inferior parietal lobe (IPL were identified together with significantly reduced effective connectivity from left thalamus to left IPL. Crucially, impaired thalamo-cortical white matter circuitry correlated with memory performance. Disrupted thalamo-cortical structure was accompanied by significant reductions in IPL and PCC cortico-cortical effective connectivity. No structural deficits were found between DMN nodes. Abnormal posterior DMN activity may be driven by changes in thalamic white matter connectivity; a view supported by the close anatomical and functional association of thalamic nuclei effected by AD pathology and

Reduced frontal cortex thickness and cortical volume associated with pathological narcissism.

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Mao, Yu; Sang, Na; Wang, Yongchao; Hou, Xin; Huang, Hui; Wei, Dongtao; Zhang, Jinfu; Qiu, Jiang

2016-07-22

Pathological narcissism is often characterized by arrogant behavior, a lack of empathy, and willingness to exploit other individuals. Generally, individuals with high levels of narcissism are more likely to suffer mental disorders. However, the brain structural basis of individual pathological narcissism trait among healthy people has not yet been investigated with surface-based morphometry. Thus, in this study, we investigated the relationship between cortical thickness (CT), cortical volume (CV), and individual pathological narcissism in a large healthy sample of 176 college students. Multiple regression was used to analyze the correlation between regional CT, CV, and the total Pathological Narcissism Inventory (PNI) score, adjusting for age, sex, and total intracranial volume. The results showed that the PNI score was significantly negatively associated with CT and CV in the right dorsolateral prefrontal cortex (DLPFC, key region of the central executive network, CEN), which might be associated with impaired emotion regulation processes. Furthermore, the PNI score showed significant negative associations with CV in the right postcentral gyrus, left medial prefrontal cortex (MPFC), and the CT in the right inferior frontal cortex (IFG, overlap with social brain network), which may be related to impairments in social cognition. Together, these findings suggest a unique structural basis for individual differences in pathological narcissism, distributed across different gray matter regions of the social brain network and CEN. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.

Early detection of congenital syphilis

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Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Dance Experience and Associations with Cortical Gray Matter Thickness in the Aging Population

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Shai Porat

2016-10-01

Full Text Available Introduction: We investigated the effect dance experience may have on cortical gray matter thickness and cognitive performance in elderly participants with and without mild cognitive impairment (MCI. Methods: 39 cognitively normal and 48 MCI elderly participants completed a questionnaire regarding their lifetime experience with music, dance, and song. Participants identified themselves as either dancers or nondancers. All participants received structural 1.5-tesla MRI scans and detailed clinical and neuropsychological evaluations. An advanced 3D cortical mapping technique was then applied to calculate cortical thickness. Results: Despite having a trend-level significantly thinner cortex, dancers performed better in cognitive tasks involving learning and memory, such as the California Verbal Learning Test-II (CVLT-II short delay free recall (p = 0.004, the CVLT-II long delay free recall (p = 0.003, and the CVLT-II learning over trials 1-5 (p = 0.001. Discussion: Together, these results suggest that dance may result in an enhancement of cognitive reserve in aging, which may help avert or delay MCI.

Genetics Home Reference: critical congenital heart disease

Science.gov (United States)

... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Pitch discrimination associated with phonological awareness: Evidence from congenital amusia.

Science.gov (United States)

Sun, Yanan; Lu, Xuejing; Ho, Hao Tam; Thompson, William Forde

2017-03-13

Research suggests that musical skills are associated with phonological abilities. To further investigate this association, we examined whether phonological impairments are evident in individuals with poor music abilities. Twenty individuals with congenital amusia and 20 matched controls were assessed on a pure-tone pitch discrimination task, a rhythm discrimination task, and four phonological tests. Amusic participants showed deficits in discriminating pitch and discriminating rhythmic patterns that involve a regular beat. At a group level, these individuals performed similarly to controls on all phonological tests. However, eight amusics with severe pitch impairment, as identified by the pitch discrimination task, exhibited significantly worse performance than all other participants in phonological awareness. A hierarchical regression analysis indicated that pitch discrimination thresholds predicted phonological awareness beyond that predicted by phonological short-term memory and rhythm discrimination. In contrast, our rhythm discrimination task did not predict phonological awareness beyond that predicted by pitch discrimination thresholds. These findings suggest that accurate pitch discrimination is critical for phonological processing. We propose that deficits in early-stage pitch discrimination may be associated with impaired phonological awareness and we discuss the shared role of pitch discrimination for processing music and speech.

Impaired holistic coding of facial expression and facial identity in congenital prosopagnosia.

Science.gov (United States)

Palermo, Romina; Willis, Megan L; Rivolta, Davide; McKone, Elinor; Wilson, C Ellie; Calder, Andrew J

2011-04-01

We test 12 individuals with congenital prosopagnosia (CP), who replicate a common pattern of showing severe difficulty in recognising facial identity in conjunction with normal recognition of facial expressions (both basic and 'social'). Strength of holistic processing was examined using standard expression composite and identity composite tasks. Compared to age- and sex-matched controls, group analyses demonstrated that CPs showed weaker holistic processing, for both expression and identity information. Implications are (a) normal expression recognition in CP can derive from compensatory strategies (e.g., over-reliance on non-holistic cues to expression); (b) the split between processing of expression and identity information may take place after a common stage of holistic processing; and (c) contrary to a recent claim, holistic processing of identity is functionally involved in face identification ability. Copyright © 2011 Elsevier Ltd. All rights reserved.

CERAD Neuropsychological Total Scores Reflect Cortical Thinning in Prodromal Alzheimer's Disease

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T. Paajanen

2013-11-01

Full Text Available Background: Sensitive cognitive global scores are beneficial in screening and monitoring for prodromal Alzheimer's disease (AD. Early cortical changes provide a novel opportunity for validating established cognitive total scores against the biological disease markers. Methods: We examined how two different total scores of the Consortium to Establish a Registry for Alzheimer's Disease (CERAD battery and the Mini-Mental State Examination (MMSE are associated with cortical thickness (CTH in mild cognitive impairment (MCI and prodromal AD. Cognitive and magnetic resonance imaging (MRI data of 22 progressive MCI, 78 stable MCI, and 98 control subjects, and MRI data of 103 AD patients of the prospective multicenter study were analyzed. Results: CERAD total scores correlated with mean CTH more strongly (r = 0.34-0.38, p Conclusion: CERAD total scores are sensitive to the CTH signature of prodromal AD, which supports their biological validity in detecting early disease-related cognitive changes.

Introducing a Virtual Lesion Model of Dysphagia Resulting from Pharyngeal Sensory Impairment

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Paul Muhle

2018-01-01

Full Text Available Background/Aims: Performing neurophysiological and functional imaging studies in severely affected patients to investigate novel neurostimulation techniques for the treatment of neurogenic dysphagia is difficult. Therefore, basic research needs to be conducted in healthy subjects. Swallowing is a motor function highly dependent on sensory afferent input. Here we propose a virtual peripheral sensory lesion model to mimic pharyngeal sensory impairment, which is known as a major contributor to dysphagia in neurological disease. Methods: In this randomized crossover study on 11 healthy volunteers, cortical activation during pneumatic pharyngeal stimulation was measured applying magnetoencephalography in two separate sessions, with and without pharyngeal surface anesthesia. Results: Stimulation evoked bilateral event-related desynchronization (ERD mainly in the caudolateral pericentral cortex. In comparison to the no-anesthesia condition, topical anesthesia led to a reduction of ERD in beta (13-30 Hz and low gamma (30-60 Hz frequency ranges (p<0.05 in sensory but also motor cortical areas. Conclusions: Withdrawal of sensory afferent information by topical anesthesia leads to reduced response to pneumatic pharyngeal stimulation in a distributed cortical sensorimotor network in healthy subjects. The proposed paradigm may serve to investigate the effect of neuromodulatory treatments specifically on pharyngeal sensory impairment as relevant cause of neurogenic dysphagia.

Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

Science.gov (United States)

Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

2015-01-01

SUMMARY Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions. Copyright © 2014 John Wiley & Sons, Ltd. PMID:24760655

Persistent increase in oxygen consumption and impaired neurovascular coupling after spreading depression in rat neocortex

DEFF Research Database (Denmark)

Hansen, Henning Piilgaard; Lauritzen, Martin

2009-01-01

trauma. Here we tested the hypothesis that single episodes of CSD induced acute hypoxia, and prolonged impairment of neurovascular and neurometabolic coupling. Cortical spreading depression was induced in rat frontal cortex, whereas cortical electrical activity and local field potentials (LFPs) were......Cortical spreading depression (CSD) is associated with a dramatic failure of brain ion homeostasis and increased energy metabolism. There is strong clinical and experimental evidence to suggest that CSD is the mechanism of migraine, and involved in progressive neuronal injury in stroke and head...... recorded by glass microelectrodes, cerebral blood flow (CBF) by laser-Doppler flowmetry, and tissue oxygen tension (tpO(2)) with polarographic microelectrodes. Cortical spreading depression increased cerebral metabolic rate of oxygen (CMRO(2)) by 71%+/-6.7% and CBF by 238%+/-48.1% for 1 to 2 mins...

Cerebral versus Ocular Visual Impairment: The Impact on Developmental Neuroplasticity.

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Martín, Maria B C; Santos-Lozano, Alejandro; Martín-Hernández, Juan; López-Miguel, Alberto; Maldonado, Miguel; Baladrón, Carlos; Bauer, Corinna M; Merabet, Lotfi B

2016-01-01

Cortical/cerebral visual impairment (CVI) is clinically defined as significant visual dysfunction caused by injury to visual pathways and structures occurring during early perinatal development. Depending on the location and extent of damage, children with CVI often present with a myriad of visual deficits including decreased visual acuity and impaired visual field function. Most striking, however, are impairments in visual processing and attention which have a significant impact on learning, development, and independence. Within the educational arena, current evidence suggests that strategies designed for individuals with ocular visual impairment are not effective in the case of CVI. We propose that this variance may be related to differences in compensatory neuroplasticity related to the type of visual impairment, as well as underlying alterations in brain structural connectivity. We discuss the etiology and nature of visual impairments related to CVI, and how advanced neuroimaging techniques (i.e., diffusion-based imaging) may help uncover differences between ocular and cerebral causes of visual dysfunction. Revealing these differences may help in developing future strategies for the education and rehabilitation of individuals living with visual impairment.

Check-list for the assessment of functional impairment in children with congenital aural atresia.

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Montino, Silvia; Agostinelli, Anna; Trevisi, Patrizia; Martini, Alessandro; Ghiselli, Sara

2017-11-01

Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA. FOS wants to offer a range of assessment providing a profile of the child in comparison to hearing peers and it aims to make clinicians able to identify additional problems and areas of difficulties as well as specific abilities and skills. Secondary, we want to investigate the presence of correlations between disorders and side of CAA. a new Checklist (FOS Checklist) was administered to 68 children with CAA. Feeding abilities are age-adequate in 94,3% of all patients. 54,4% of all patients are in need for further assessment of their oral-motor skills; delays in language development were found in 44,1% of cases. Orofacial development delays have been observed in 57.2% of subjects among the bilateral CAA group, in 53.9% among the right CAA group and in 53.4% among the left CAA group. Patients referred for further language evaluation were 42,9% in the bilateral CAA group, 33.3% in the right CAA group and 33.3% in the left CAA group. According to the χ 2 analysis, referral for further assessment is independent from side of aural atresia. Subjects with bilateral CAA are more likely to be referred for further assessment, both for oral motor aspects and for speech perception and language development. However, there is not a significant statistical difference between the performances of children with bilateral or unilateral CAA. FOS Checklist is simple, reliable and time effective and can be used in everyday clinical practice. FOS enable clinicians to identify additional

Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

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Clairton Marcolongo-Pereira

2010-10-01

ádicos. Em bubalinos todas as malformações diagnosticadas são hereditárias (artrogripose, miotonia e dermatose mecânico-bolhosa ou suspeitas de serem hereditárias (albinismo, megaesôfago e hidranencefalia/hipoplasia cerebelar. Concluiu-se que os defeitos congênitos esporádicos têm pouca importância nas três espécies e que defeitos congênitos de causas ambientais, apesar de pouco freqüentes, podem trazer prejuízos econômicos importantes em determinadas regiões ou estabelecimentos. As doenças hereditárias são importantes não só pela mortalidade mas, também, pela possibilidade de disseminação de genes indesejáveis nas diferentes raças. Em bubalinos a alta frequência de doenças hereditárias na raça Murrah foi atribuída a alta consanguinidade do rebanho brasileiro. Medidas de controle devem ser tomadas para evitar-se a contínua disseminação, principalmente dos genes recessivos, em bubalinos e bovinos.Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88%, 0.36%, and 7.54%, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83% of the congenital defects, known hereditary and probably hereditary diseases represented 6.25%, and 29.16%, respectively, and defects associated to environmental factors represented 16.66%. In cattle, of the 48 congenital defects observed 21 (43.75% affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect, nine (18.75% affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria, nine (18.75% the

Developmental cuprizone exposure impairs oligodendrocyte lineages differentially in cortical and white matter tissues and suppresses glutamatergic neurogenesis signals and synaptic plasticity in the hippocampal dentate gyrus of rats

International Nuclear Information System (INIS)

Abe, Hajime; Saito, Fumiyo; Tanaka, Takeshi; Mizukami, Sayaka; Hasegawa-Baba, Yasuko; Imatanaka, Nobuya; Akahori, Yumi; Yoshida, Toshinori; Shibutani, Makoto

2016-01-01

Developmental cuprizone (CPZ) exposure impairs rat hippocampal neurogenesis. Here, we captured the developmental neurotoxicity profile of CPZ using a region-specific expression microarray analysis in the hippocampal dentate gyrus, corpus callosum, cerebral cortex and cerebellar vermis of rat offspring exposed to 0, 0.1, or 0.4% CPZ in the maternal diet from gestation day 6 to postnatal day (PND) 21. Transcripts of those genes identified as altered were subjected to immunohistochemical analysis on PNDs 21 and 77. Our results showed that transcripts for myelinogenesis-related genes, including Cnp, were selectively downregulated in the cerebral cortex by CPZ at ≥ 0.1% or 0.4% on PND 21. CPZ at 0.4% decreased immunostaining intensity for 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNPase) and CNPase + and OLIG2 + oligodendrocyte densities in the cerebral cortex, whereas CNPase immunostaining intensity alone was decreased in the corpus callosum. By contrast, a striking transcript upregulation for Klotho gene and an increased density of Klotho + oligodendrocytes were detected in the corpus callosum at ≥ 0.1%. In the dentate gyrus, CPZ at ≥ 0.1% or 0.4% decreased the transcript levels for Gria1, Grin2a and Ptgs2, genes related to the synapse and synaptic transmission, and the number of GRIA1 + and GRIN2A + hilar γ-aminobutyric acid (GABA)-ergic interneurons and cyclooxygenase-2 + granule cells. All changes were reversed at PND 77. Thus, developmental CPZ exposure reversibly decreased mature oligodendrocytes in both cortical and white matter tissues, and Klotho protected white matter oligodendrocyte growth. CPZ also reversibly targeted glutamatergic signals of GABAergic interneuron to affect dentate gyrus neurogenesis and synaptic plasticity in granule cells. - Highlights: • We examined developmental cuprizone (CPZ) neurotoxicity in maternally exposed rats. • Multiple brain region-specific global gene expression profiling was performed. • CPZ decreased

Developmental cuprizone exposure impairs oligodendrocyte lineages differentially in cortical and white matter tissues and suppresses glutamatergic neurogenesis signals and synaptic plasticity in the hippocampal dentate gyrus of rats

Energy Technology Data Exchange (ETDEWEB)

Abe, Hajime [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Pathogenetic Veterinary Science, United Graduate School of Veterinary Sciences, Gifu University, 1-1 Yanagido, Gifu-shi, Gifu 501-1193 (Japan); Saito, Fumiyo [Chemicals Evaluation and Research Institute, Japan, 1-4-25 Koraku, Bunkyo-ku, Tokyo 112-0004 (Japan); Tanaka, Takeshi; Mizukami, Sayaka [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Pathogenetic Veterinary Science, United Graduate School of Veterinary Sciences, Gifu University, 1-1 Yanagido, Gifu-shi, Gifu 501-1193 (Japan); Hasegawa-Baba, Yasuko [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Imatanaka, Nobuya; Akahori, Yumi [Chemicals Evaluation and Research Institute, Japan, 1-4-25 Koraku, Bunkyo-ku, Tokyo 112-0004 (Japan); Yoshida, Toshinori [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Shibutani, Makoto, E-mail: mshibuta@cc.tuat.ac.jp [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan)

2016-01-01

Developmental cuprizone (CPZ) exposure impairs rat hippocampal neurogenesis. Here, we captured the developmental neurotoxicity profile of CPZ using a region-specific expression microarray analysis in the hippocampal dentate gyrus, corpus callosum, cerebral cortex and cerebellar vermis of rat offspring exposed to 0, 0.1, or 0.4% CPZ in the maternal diet from gestation day 6 to postnatal day (PND) 21. Transcripts of those genes identified as altered were subjected to immunohistochemical analysis on PNDs 21 and 77. Our results showed that transcripts for myelinogenesis-related genes, including Cnp, were selectively downregulated in the cerebral cortex by CPZ at ≥ 0.1% or 0.4% on PND 21. CPZ at 0.4% decreased immunostaining intensity for 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNPase) and CNPase{sup +} and OLIG2{sup +} oligodendrocyte densities in the cerebral cortex, whereas CNPase immunostaining intensity alone was decreased in the corpus callosum. By contrast, a striking transcript upregulation for Klotho gene and an increased density of Klotho{sup +} oligodendrocytes were detected in the corpus callosum at ≥ 0.1%. In the dentate gyrus, CPZ at ≥ 0.1% or 0.4% decreased the transcript levels for Gria1, Grin2a and Ptgs2, genes related to the synapse and synaptic transmission, and the number of GRIA1{sup +} and GRIN2A{sup +} hilar γ-aminobutyric acid (GABA)-ergic interneurons and cyclooxygenase-2{sup +} granule cells. All changes were reversed at PND 77. Thus, developmental CPZ exposure reversibly decreased mature oligodendrocytes in both cortical and white matter tissues, and Klotho protected white matter oligodendrocyte growth. CPZ also reversibly targeted glutamatergic signals of GABAergic interneuron to affect dentate gyrus neurogenesis and synaptic plasticity in granule cells. - Highlights: • We examined developmental cuprizone (CPZ) neurotoxicity in maternally exposed rats. • Multiple brain region-specific global gene expression profiling

Cortico-cortical communication dynamics

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Per E Roland

2014-05-01

Full Text Available IIn principle, cortico-cortical communication dynamics is simple: neurons in one cortical area communicate by sending action potentials that release glutamate and excite their target neurons in other cortical areas. In practice, knowledge about cortico-cortical communication dynamics is minute. One reason is that no current technique can capture the fast spatio-temporal cortico-cortical evolution of action potential transmission and membrane conductances with sufficient spatial resolution. A combination of optogenetics and monosynaptic tracing with virus can reveal the spatio-temporal cortico-cortical dynamics of specific neurons and their targets, but does not reveal how the dynamics evolves under natural conditions. Spontaneous ongoing action potentials also spread across cortical areas and are difficult to separate from structured evoked and intrinsic brain activity such as thinking. At a certain state of evolution, the dynamics may engage larger populations of neurons to drive the brain to decisions, percepts and behaviors. For example, successfully evolving dynamics to sensory transients can appear at the mesoscopic scale revealing how the transient is perceived. As a consequence of these methodological and conceptual difficulties, studies in this field comprise a wide range of computational models, large-scale measurements (e.g., by MEG, EEG, and a combination of invasive measurements in animal experiments. Further obstacles and challenges of studying cortico-cortical communication dynamics are outlined in this critical review.

Identification of changes along a continuum of speech intonation is impaired in congenital amusia

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Sean eHutchins

2010-12-01

Full Text Available A small number of individuals have severe musical problems that have neuro-genetic underpinnings. This musical disorder is termed congenital amusia, an umbrella term for lifelong musical disabilities that cannot be attributed to deafness, lack of exposure, or brain damage after birth. Amusics seem to lack the ability to detect fine pitch differences in tone sequences. However, differences between statements and questions, which vary in final pitch, are well perceived by most congenital amusic individuals. We hypothesized that the origin of this apparent domain-specificity of the disorder lies in the range of pitch variations, which are very coarse in speech as compared to music. Here, we tested this hypothesis by using a continuum of gradually increasing final pitch in both speech and tone sequences. To this aim, nine amusic cases and nine matched controls were presented with statements and questions that varied on a pitch continuum from falling to rising in 11 steps. The sentences were either naturally spoken or were tone sequence versions of these. The task was to categorize the sentences as statements or questions and the tone sequences, as falling or rising. In each case, the observation of an S-shaped identification function indicates that amusics can accurately identify unambiguous examples of statements and questions but have problems with fine variations between these endpoints. Thus, the results indicate that a deficient pitch perception might compromise music, not because it is specialized for that domain but because music requirements are more fine-grained.

Dance Experience and Associations with Cortical Gray Matter Thickness in the Aging Population

OpenAIRE

Porat, Shai; Goukasian, Naira; Hwang, Kristy S.; Zanto, Theodore; Do, Triet; Pierce, Jonathan; Joshi, Shantanu; Woo, Ellen; Apostolova, Liana G.

2016-01-01

Introduction: We investigated the effect dance experience may have on cortical gray matter thickness and cognitive performance in elderly participants with and without mild cognitive impairment (MCI). Methods: 39 cognitively normal and 48 MCI elderly participants completed a questionnaire regarding their lifetime experience with music, dance, and song. Participants identified themselves as either dancers or nondancers. All participants received structural 1.5-tesla MRI scans and detailed clin...

Comparing the influence of crestal cortical bone and sinus floor cortical bone in posterior maxilla bi-cortical dental implantation: a three-dimensional finite element analysis.

Science.gov (United States)

Yan, Xu; Zhang, Xinwen; Chi, Weichao; Ai, Hongjun; Wu, Lin

2015-05-01

This study aimed to compare the influence of alveolar ridge cortical bone and sinus floor cortical bone in sinus areabi-cortical dental implantation by means of 3D finite element analysis. Three-dimensional finite element (FE) models in a posterior maxillary region with sinus membrane and the same height of alveolar ridge of 10 mm were generated according to the anatomical data of the sinus area. They were either with fixed thickness of crestal cortical bone and variable thickness of sinus floor cortical bone or vice versa. Ten models were assumed to be under immediate loading or conventional loading. The standard implant model based on the Nobel Biocare implant system was created via computer-aided design software. All materials were assumed to be isotropic and linearly elastic. An inclined force of 129 N was applied. Von Mises stress mainly concentrated on the surface of crestal cortical bone around the implant neck. For all the models, both the axial and buccolingual resonance frequencies of conventional loading were higher than those of immediate loading; however, the difference is less than 5%. The results showed that bi-cortical implant in sinus area increased the stability of the implant, especially for immediately loading implantation. The thickness of both crestal cortical bone and sinus floor cortical bone influenced implant micromotion and stress distribution; however, crestal cortical bone may be more important than sinus floor cortical bone.

The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome.

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Mike Sharman

Full Text Available Certain motor activities--like walking or breathing--present the interesting property of proceeding either automatically or under voluntary control. In the case of breathing, brainstem structures located in the medulla are in charge of the automatic mode, whereas cortico-subcortical brain networks--including various frontal lobe areas--subtend the voluntary mode. We speculated that the involvement of cortical activity during voluntary breathing could impact both on the "resting state" pattern of cortical-subcortical connectivity, and on the recruitment of executive functions mediated by the frontal lobe. In order to test this prediction we explored a patient suffering from central congenital hypoventilation syndrome (CCHS, a very rare developmental condition secondary to brainstem dysfunction. Typically, CCHS patients demonstrate efficient cortically-controlled breathing while awake, but require mechanically-assisted ventilation during sleep to overcome the inability of brainstem structures to mediate automatic breathing. We used simultaneous EEG-fMRI recordings to compare patterns of brain activity between these two types of ventilation during wakefulness. As compared with spontaneous breathing (SB, mechanical ventilation (MV restored the default mode network (DMN associated with self-consciousness, mind-wandering, creativity and introspection in healthy subjects. SB on the other hand resulted in a specific increase of functional connectivity between brainstem and frontal lobe. Behaviorally, the patient was more efficient in cognitive tasks requiring executive control during MV than during SB, in agreement with her subjective reports in everyday life. Taken together our results provide insight into the cognitive and neural costs of spontaneous breathing in one CCHS patient, and suggest that MV during waking periods may free up frontal lobe resources, and make them available for cognitive recruitment. More generally, this study reveals how the

Stimulation over primary motor cortex during action observation impairs effector recognition.

Science.gov (United States)

Naish, Katherine R; Barnes, Brittany; Obhi, Sukhvinder S

2016-04-01

Recent work suggests that motor cortical processing during action observation plays a role in later recognition of the object involved in the action. Here, we investigated whether recognition of the effector making an action is also impaired when transcranial magnetic stimulation (TMS) - thought to interfere with normal cortical activity - is applied over the primary motor cortex (M1) during action observation. In two experiments, single-pulse TMS was delivered over the hand area of M1 while participants watched short clips of hand actions. Participants were then asked whether an image (experiment 1) or a video (experiment 2) of a hand presented later in the trial was the same or different to the hand in the preceding video. In Experiment 1, we found that participants' ability to recognise static images of hands was significantly impaired when TMS was delivered over M1 during action observation, compared to when no TMS was delivered, or when stimulation was applied over the vertex. Conversely, stimulation over M1 did not affect recognition of dot configurations, or recognition of hands that were previously presented as static images (rather than action movie clips) with no object. In Experiment 2, we found that effector recognition was impaired when stimulation was applied part way through (300ms) and at the end (500ms) of the action observation period, indicating that 200ms of action-viewing following stimulation was not long enough to form a new representation that could be used for later recognition. The findings of both experiments suggest that interfering with cortical motor activity during action observation impairs subsequent recognition of the effector involved in the action, which complements previous findings of motor system involvement in object memory. This work provides some of the first evidence that motor processing during action observation is involved in forming representations of the effector that are useful beyond the action observation period

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Congenital blindness is associated with large-scale reorganization of anatomical networks.

Science.gov (United States)

Hasson, Uri; Andric, Michael; Atilgan, Hicret; Collignon, Olivier

2016-03-01

Blindness is a unique model for understanding the role of experience in the development of the brain's functional and anatomical architecture. Documenting changes in the structure of anatomical networks for this population would substantiate the notion that the brain's core network-level organization may undergo neuroplasticity as a result of life-long experience. To examine this issue, we compared whole-brain networks of regional cortical-thickness covariance in early blind and matched sighted individuals. This covariance is thought to reflect signatures of integration between systems involved in similar perceptual/cognitive functions. Using graph-theoretic metrics, we identified a unique mode of anatomical reorganization in the blind that differed from that found for sighted. This was seen in that network partition structures derived from subgroups of blind were more similar to each other than they were to partitions derived from sighted. Notably, after deriving network partitions, we found that language and visual regions tended to reside within separate modules in sighted but showed a pattern of merging into shared modules in the blind. Our study demonstrates that early visual deprivation triggers a systematic large-scale reorganization of whole-brain cortical-thickness networks, suggesting changes in how occipital regions interface with other functional networks in the congenitally blind. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

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Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

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Joe Bathelt

2016-01-01

Full Text Available Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observed bilateral reductions in cortical thickness in areas surrounding the temporo-parietal junction, parietal lobule, and inferior frontal lobe, and decreased microstructural integrity of cortical, subcortical-cortical, and interhemispheric white matter projections. These findings are compared to reports for other genetic groups and genetically heterogeneous disorders with a similar presentation. Overlap in the neuroanatomical phenotype suggests a common pathway that particularly affects the development of temporo-parietal and inferior frontal areas, and their connections.

Acetylcholine esterase activity in mild cognitive impairment and Alzheimer's disease

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Herholz, Karl [University of Manchester, Wolfson Molecular Imaging Centre, Clinical Neuroscience, Manchester (United Kingdom); University of Cologne, Cologne (Germany)

2008-03-15

Impairment of cholinergic neurotransmission is a well-established fact in Alzheimer's disease (AD), but there is controversy about its relevance at the early stages of the disease and in mild cognitive impairment (MCI). In vivo positron emission tomography imaging of cortical acetylcholine esterase (AChE) activity as a marker of cholinergic innervation that is expressed by cholinergic axons and cholinoceptive neurons has demonstrated a reduction of this enzyme activity in manifest AD. The technique is also useful to measure the inhibition of cerebral AChE induced by cholinesterase inhibitors for treatment of dementia symptoms. A reduction of cortical AchE activity was found consistently in all studies of AD and in few cases of MCI who later concerted to AD. The in vivo findings in MCI and very mild AD are still preliminary, and studies seem to suggest that cholinergic innervation and AChE as the main degrading enzyme are both reduced, which might result in partial compensation of their effect. (orig.)

Neurodevelopment in children with and without congenital heart block born to anti-Ro/SSA-positive mothers.

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Skog, Amanda; Tingström, Joanna; Salomonsson, Stina; Sonesson, Sven-Erik; Wahren-Herlenius, Marie

2013-01-01

To define factors influencing neurodevelopment in children with and without complete congenital heart block (CHB) born to mothers with Ro/SSA autoantibodies. Medical records of a population-based cohort of siblings with (n = 60) and without (n = 54) CHB born 1974-2009 to anti-Ro/SSA-positive mothers were retrieved from children primary healthcare centres and school health services and used to extract data on neurodevelopment. Impaired neurodevelopment was reported in 16% of the children (18/114) during the follow-up time of 13.0 (8.2-17.5) years, median (quartiles). Reported problems included speech (9%), motor (8%) and learning (8%) impairment, attention deficit (5%) and behavioural impairment (4%). Impairment in motor skill development was more common in boys (p influenced by maternal SLE (p influenced by both maternal SLE (p influence neurodevelopment. Follow-up of neurodevelopment should therefore be considered for children with CHB, especially if the mother is diagnosed with SLE. ©2012 The Author(s)/Acta Paediatrica ©2012 Foundation Acta Paediatrica.

Congenital chylous ascites

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Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

Cortical Thinning in Network-Associated Regions in Cognitively Normal and Below-Normal Range Schizophrenia

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R. Walter Heinrichs

2017-01-01

Full Text Available This study assessed whether cortical thickness across the brain and regionally in terms of the default mode, salience, and central executive networks differentiates schizophrenia patients and healthy controls with normal range or below-normal range cognitive performance. Cognitive normality was defined using the MATRICS Consensus Cognitive Battery (MCCB composite score (T=50 ± 10 and structural magnetic resonance imaging was used to generate cortical thickness data. Whole brain analysis revealed that cognitively normal range controls (n=39 had greater cortical thickness than both cognitively normal (n=17 and below-normal range (n=49 patients. Cognitively normal controls also demonstrated greater thickness than patients in regions associated with the default mode and salience, but not central executive networks. No differences on any thickness measure were found between cognitively normal range and below-normal range controls (n=24 or between cognitively normal and below-normal range patients. In addition, structural covariance between network regions was high and similar across subgroups. Positive and negative symptom severity did not correlate with thickness values. Cortical thinning across the brain and regionally in relation to the default and salience networks may index shared aspects of the psychotic psychopathology that defines schizophrenia with no relation to cognitive impairment.

Exocytosis of gliotransmitters from cortical astrocytes: implications for synaptic plasticity and aging.

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Lalo, Ulyana; Rasooli-Nejad, Seyed; Pankratov, Yuriy

2014-10-01

Maintaining brain function during aging is very important for mental and physical health. Recent studies showed a crucial importance of communication between two major types of brain cells: neurons transmitting electrical signals, and glial cells, which maintain the well-being and function of neurons. Still, the study of age-related changes in neuron-glia signalling is far from complete. We have shown previously that cortical astrocytes are capable of releasing ATP by a quantal soluble N-ethylmaleimide-sensitive factor-attachment protein receptor (SNARE) complex-dependent mechanism. Release of ATP from cortical astrocytes can be activated via various pathways, including direct UV-uncaging of intracellular Ca²⁺ or G-protein-coupled receptors. Importantly, release of both ATP and glutamate from neocortical astrocytes was not observed in brain slices of dominant-negative SNARE (dnSNARE) mice, expressing dnSNARE domain selectively in astrocytes. We also discovered that astrocyte-driven ATP can cause significant attenuation of synaptic inhibition in the pyramidal neurons via Ca²⁺-interaction between the neuronal ATP and γ-aminobutyric acid (GABA) receptors. Furthermore, we showed that astrocyte-derived ATP can facilitate the induction of long-term potentiation of synaptic plasticity in the neocortex. Our recent data have shown that an age-related decrease in the astroglial Ca²⁺ signalling can cause a substantial decrease in the exocytosis of gliotransmitters, in particular ATP. Age-related impairment of ATP release from cortical astrocytes can cause a decrease in the extent of astroglial modulation of synaptic transmission in the neocortex and can therefore contribute to the age-related impairment of synaptic plasticity and cognitive decline. Combined, our results strongly support the physiological relevance of glial exocytosis for glia-neuron communications and brain function.

Congenital nystagmus and negative electroretinography

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Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

CT-guided radiolabelled aerosol studies for assessing pulmonary impairment in children with bronchiectasis

International Nuclear Information System (INIS)

Pifferi, M.; Baldini, M.; Caramella, D.; Bartolozzi, C.; Di Mauro, M.; Cangiotti, A.M.

2000-01-01

Objective. To determine whether CT-guided mucociliary clearance studies allow differentiation between bronchiectasis associated with primary ciliary dyskinesia (PCD) and those unrelated to congenital or genetically transmitted defects. Materials and methods. Fifteen children aged 4-18 years with a CT diagnosis of bronchiectasis were included in the study. Six had PCD, while in nine cases no congenital disorder was demonstrated. Results. CT showed bronchiectasis in 26 (29 %) of 90 lung regions. Radiolabelled aerosol studies were conducted globally for each lung and on the regions affected by bronchiectasis. Global half-time of activity (t 1/2 ) values of patients with PCD were significantly higher (P 1/2 values. Patients with bronchiectasis unrelated to congenital disorders showed significantly higher regional t 1/2 values in the affected regions with respect to the corresponding global pulmonary t 1/2 (P < 0.06). Conclusions. The combination of morphological CT information with functional data concerning the clearance of radiolabelled aerosol adds to our understanding of pulmonary impairment in children with bronchiectasis. In particular, regional studies allow the recognition of different mucociliary clearance patterns in bronchiectasis associated with PCD and those unrelated to congenital or genetically transmitted defects. (orig.)

Nonfluent/Agrammatic PPA with In-Vivo Cortical Amyloidosis and Pick’s Disease Pathology

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Francesca Caso

2013-01-01

Full Text Available The role of biomarkers in predicting pathological findings in the frontotemporal dementia (FTD clinical spectrum disorders is still being explored. We present comprehensive, prospective longitudinal data for a 66 year old, right-handed female who met current criteria for the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA. She first presented with a 3-year history of progressive speech and language impairment mainly characterized by severe apraxia of speech. Neuropsychological and general motor functions remained relatively spared throughout the clinical course. Voxel-based morphometry (VBM showed selective cortical atrophy of the left posterior inferior frontal gyrus (IFG and underlying insula that worsened over time, extending along the left premotor strip. Five years after her first evaluation, she developed mild memory impairment and underwent PET-FDG and PiB scans that showed left frontal hypometabolism and cortical amyloidosis. Three years later (11 years from first symptom, post-mortem histopathological evaluation revealed Pick's disease, with severe degeneration of left IFG, mid-insula, and precentral gyrus. Alzheimer’s disease (AD (CERAD frequent/Braak Stage V was also detected. This patient demonstrates that biomarkers indicating brain amyloidosis should not be considered conclusive evidence that AD pathology accounts for a typical FTD clinical/anatomical syndrome.

Sensory-parietal cortical stimulation improves motor recovery in severe capsular infarct.

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Kim, Ra Gyung; Cho, Jongwook; Ree, Jinkyue; Kim, Hyung-Sun; Rosa-Neto, Pedro; Kim, Jin-Myung; Lee, Min-Cheol; Kim, Hyoung-Ihl

2016-12-01

The prevalence of subcortical white matter strokes in elderly patients is on the rise, but these patients show mixed responses to conventional rehabilitative interventions. To examine whether cortical electrical stimulation can promote motor recovery after white matter stroke, we delivered stimulation to a small or wide region of sensory-parietal cortex for two weeks in a rodent model of circumscribed subcortical capsular infarct. The sham-operated group (SOG) showed persistent and severe motor impairments together with decreased activation in bilateral sensorimotor cortices and striatum. In contrast, sensory-parietal cortex stimulation significantly improved motor recovery: final recovery levels were 72.9% of prelesion levels in the wide stimulation group (WSG) and 37% of prelesion levels in the small stimulation group (SSG). The microPET imaging showed reversal of cortical diaschisis in both groups: in both hemispheres for the WSG, and in the hemisphere ipsilateral to stimulation in the SSG. In addition, we observed activation of the corpus callosum and subcortical corticostriatal structures after stimulation. The results from the c-Fos mapping study were grossly consistent with the microPET imaging. Sensory-parietal cortex stimulation may therefore be a useful strategy for overcoming the limits of rehabilitative training in patients with severe forms of subcortical capsular infarct. © The Author(s) 2015.

Functional MRI study of the brain with malformations of cortical development

International Nuclear Information System (INIS)

Zhang Lei; Zhou Wenjing; Jin Zhen; Li Ke; Zhang Chaoli

2012-01-01

Objective: To explore the patterns of motor and linguistic activation in cortical and its correlations with abnormal gray matter in patients with malformations of cortical development (MCD) and epilepsy. Methods: Seven MCD patients with epilepsy (2 patients with focal cortical dysplasia, 2 heterotopia, 2 schizencephaly, and 1 polymicrogyria) underwent blood-oxygen-level-dependent (BOLD) functional MRI (fMRI) in a 3 T MR scanner when practicing bilateral fingers tapping,toes twisting, verb generation, and picture naming.Functional images were post-processed by using SPM 5 software based on a general linear model (GLM) to generate activations above a uniform threshold with the cluster size (≥30 voxels, P<0.001 corrected). The activations were recognized and classified by two experienced neuroradiologists, and then compared with that in abnormal gray matter. Results: The clusters and intensities of motor activations were mainly located in the sensormotor cortex (SMC) and premotor area (PMA). In linguistic tasks, activations produced by verb generation were found in language-associated cortical regions and PMA with higher activation in Wernicke area, picture naming significantly in the visual cortex, and language in Broca area. Combination of the two linguistic tasks produced significant clusters and intensities in language cortex. For MCD patients with abnormal cortical abnormalities, motor and language task could produce neuronal activities within normal as well as abnormal cortex regions. In 6 patients who underwent respective surgery, epileptic seizures decreased significantly, and the follow-up images demonstrated no new neurological dysfunctions and cognitive impairments. Conclusions: fMRI can visualize neuronal activities in patients with MCD and epilepsy and demonstrate the motor and linguistic activations occurring in normal and abnormal gray matter. It should be cautious for surgery in patient with MCD and epilepsy. (authors)

Cerebral Metabolic Differences Associated with Cognitive Impairment in Parkinson's Disease.

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Yilin Tang

Full Text Available To characterize cerebral glucose metabolism associated with different cognitive states in Parkinson's disease (PD using 18F-fluorodeoxyglucose (FDG and Positron Emission Tomography (PET.Three groups of patients were recruited in this study including PD patients with dementia (PDD; n = 10, with mild cognitive impairment (PD-MCI; n = 20, and with no cognitive impairment (PD-NC; n = 30. The groups were matched for age, sex, education, disease duration, motor disability, levodopa equivalent dose and Geriatric Depression Rating Scale (GDS score. All subjects underwent a FDG-PET study. Maps of regional metabolism in the three groups were compared using statistical parametric mapping (SPM5.PD-MCI patients exhibited limited areas of hypometabolism in the frontal, temporal and parahippocampal gyrus compared with the PD-NC patients (p < 0.01. PDD patients had bilateral areas of hypometabolism in the frontal and posterior parietal-occipital lobes compared with PD-MCI patients (p < 0.01, and exhibited greater metabolic reductions in comparison with PD-NC patients (p < 0.01.Compared with PD-NC patients, hypometabolism was much higher in the PDD patients than in PD-MCI patients, mainly in the posterior cortical areas. The result might suggest an association between posterior cortical hypometabolism and more severe cognitive impairment. PD-MCI might be important for early targeted therapeutic intervention and disease modification.

Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs

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Bello, Oscar Daniel; Cappa, Andrea Isabel; Paola, Matilde de; Zanetti, María Natalia [Instituto de Histología y Embriología, CONICET – Universidad Nacional de Cuyo, Av. Libertador 80, 5500 Mendoza (Argentina); Fukuda, Mitsunori [Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi 980-8578 (Japan); Fissore, Rafael A. [Department of Veterinary and Animal Sciences, University of Massachusetts Amherst, 661 North Pleasant Street, Amherst, MA 01003 (United States); Mayorga, Luis S. [Instituto de Histología y Embriología, CONICET – Universidad Nacional de Cuyo, Av. Libertador 80, 5500 Mendoza (Argentina); Michaut, Marcela A., E-mail: mmichaut@gmail.com [Instituto de Histología y Embriología, CONICET – Universidad Nacional de Cuyo, Av. Libertador 80, 5500 Mendoza (Argentina); Facultad de Ciencias Exactas y Naturales, Universidad Nacional de Cuyo (Argentina)

2016-09-10

Fusion of cortical granules with the oocyte plasma membrane is the most significant event to prevent polyspermy. This particular exocytosis, also known as cortical reaction, is regulated by calcium and its molecular mechanism is still not known. Rab3A, a member of the small GTP-binding protein superfamily, has been implicated in calcium-dependent exocytosis and is not yet clear whether Rab3A participates in cortical granules exocytosis. Here, we examine the involvement of Rab3A in the physiology of cortical granules, particularly, in their distribution during oocyte maturation and activation, and their participation in membrane fusion during cortical granule exocytosis. Immunofluorescence and Western blot analysis showed that Rab3A and cortical granules have a similar migration pattern during oocyte maturation, and that Rab3A is no longer detected after cortical granule exocytosis. These results suggested that Rab3A might be a marker of cortical granules. Overexpression of EGFP-Rab3A colocalized with cortical granules with a Pearson correlation coefficient of +0.967, indicating that Rab3A and cortical granules have almost a perfect colocalization in the egg cortical region. Using a functional assay, we demonstrated that microinjection of recombinant, prenylated and active GST-Rab3A triggered cortical granule exocytosis, indicating that Rab3A has an active role in this secretory pathway. To confirm this active role, we inhibited the function of endogenous Rab3A by microinjecting a polyclonal antibody raised against Rab3A prior to parthenogenetic activation. Our results showed that Rab3A antibody microinjection abolished cortical granule exocytosis in parthenogenetically activated oocytes. Altogether, our findings confirm that Rab3A might function as a marker of cortical granules and participates in cortical granule exocytosis in mouse eggs. - Highlights: • Rab3A has a similar migration pattern to cortical granules in mouse oocytes. • Rab3A can be a marker of

A pilot study of expenditures on, and utilization of resources in, health care in adults with congenital heart disease.

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Moons, P; Siebens, K; De Geest, S; Abraham, I; Budts, W; Gewillig, M

2001-05-01

Congenital cardiac disease may be a chronic condition, necessitating life-long follow-up for a substantial proportion of the patients. Such patients, therefore, are often presumed to be high users of resources for health care. Information on utilization of resources in adults with congenital heart disease, however, is scarce. This retrospective pilot study, performed in Belgium, investigated 192 adults with congenital heart disease to measure the annual expenditures and utilization of health care and compared the findings with data from the general population. We also sought to explore demographic and clinical parameters as predictors for the expenditures. Hospitalization was documented in 20.3% of the patients, with a median length of stay of 5 days. The overall payment by health insurance associations in 1997 was 1794.5 ECU per patient, while patients paid on average 189.5 ECU out-of-pocket. For medication, the average reimbursement and out-of-pocket expenses were estimated at 78 ECU and 20 ECU, respectively. Expenditures for patients with congenital heart disease were considerably higher than the age and gender-corrected expenditures for the general population (411.7 ECU), though this difference was accounted for by only one-eighth of the cohort of those with congenital heart disease. In general, higher expenditures were associated with abnormal left ventricular end-diastolic diameter, female gender, functional impairment and higher age, although the explained variance was limited. Our study has provided pilot data on the economic outcomes for patients with congenital heart diseases. We have identified parameters that could predict expenditure, but which will have to be examined in future research. This is needed to develop guidelines for health insurance for those with congenital heart diseases.

Focal seizures after instillation of cyclomydril to a neonate with congenital CMV infection.

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Hu, L; Dow, K

2014-01-01

We present the case of a term neonate who underwent a diagnostic eye examination on day one for possible genetic disorders. Five minutes after Cyclomydril (0.2% clyclopentolate and 1% phenylephrine) eye drops were instilled, a focal seizure lasting for approximately one hour occurred. The electroencephalograph (EEG) was normal but the magnetic resonance imaging (MRI) revealed calcifications in the bilateral periventricular regions. Urine CMV-DNA and maternal serum CMV-IgM were both positive. Auditory brainstem testing suggested severe sensoneural hearing loss. The baby was treated for congenital CMV infection and did not have further seizures. In this case the congenital CMV infection may have been the predisposing factor to central nervous system (CNS) toxicity induced by cyclopentolate. The exact mechanism is unknown but severe neurological impairment may be considered a contraindication for cyclopentolate eye drops in the neonate. To our knowledge, this is the first report of seizures occurring within the first week of life secondary to cyclomydril eye drops in a term neonate.

Congenital and perinatal cytomegalovirus infection

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Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

Pattern of regional cortical thinning associated with cognitive deterioration in Parkinson's disease.

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Javier Pagonabarraga

Full Text Available BACKGROUND: Dementia is a frequent and devastating complication in Parkinson's disease (PD. There is an intensive search for biomarkers that may predict the progression from normal cognition (PD-NC to dementia (PDD in PD. Mild cognitive impairment in PD (PD-MCI seems to represent a transitional state between PD-NC and PDD. Few studies have explored the structural changes that differentiate PD-NC from PD-MCI and PDD patients. OBJECTIVES AND METHODS: We aimed to analyze changes in cortical thickness on 3.0T Magnetic Resonance Imaging (MRI across stages of cognitive decline in a prospective sample of PD-NC (n = 26, PD-MCI (n = 26 and PDD (n = 20 patients, compared to a group of healthy subjects (HC (n = 18. Cortical thickness measurements were made using the automatic software Freesurfer. RESULTS: In a sample of 72 PD patients, a pattern of linear and progressive cortical thinning was observed between cognitive groups in cortical areas functionally specialized in declarative memory (entorhinal cortex, anterior temporal pole, semantic knowledge (parahippocampus, fusiform gyrus, and visuoperceptive integration (banks of the superior temporal sulcus, lingual gyrus, cuneus and precuneus. Positive correlation was observed between confrontation naming and thinning in the fusiform gyrus, parahippocampal gyrus and anterior temporal pole; clock copy with thinning of the precuneus, parahippocampal and lingual gyrus; and delayed memory with thinning of the bilateral anteromedial temporal cortex. CONCLUSIONS: The pattern of regional decreased cortical thickness that relates to cognitive deterioration is present in PD-MCI patients, involving areas that play a central role in the storage of prior experiences, integration of external perceptions, and semantic processing.

Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

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Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

2009-11-01

To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

High-spatial-resolution mapping of the oxygen concentration in cortical tissue (Conference Presentation)

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Jaswal, Rajeshwer S.; Yaseen, Mohammad A.; Fu, Buyin; Boas, David A.; Sakadžic, Sava

2016-03-01

Due to a lack of imaging tools for high-resolution imaging of cortical tissue oxygenation, the detailed maps of the oxygen partial pressure (PO2) around arterioles, venules, and capillaries remain largely unknown. Therefore, we have limited knowledge about the mechanisms that secure sufficient oxygen delivery in microvascular domains during brain activation, and provide some metabolic reserve capacity in diseases that affect either microvascular networks or the regulation of cerebral blood flow (CBF). To address this challenge, we applied a Two-Photon PO2 Microscopy to map PO2 at different depths in mice cortices. Measurements were performed through the cranial window in the anesthetized healthy mice as well as in the mouse models of microvascular dysfunctions. In addition, microvascular morphology was recorded by the two-photon microscopy at the end of each experiment and subsequently segmented. Co-registration of the PO2 measurements and exact microvascular morphology enabled quantification of the tissue PO2 dependence on distance from the arterioles, capillaries, and venules at various depths. Our measurements reveal significant spatial heterogeneity of the cortical tissue PO2 distribution that is dominated by the high oxygenation in periarteriolar spaces. In cases of impaired oxygen delivery due to microvascular dysfunction, significant reduction in tissue oxygenation away from the arterioles was observed. These tissue domains may be the initial sites of cortical injury that can further exacerbate the progression of the disease.

Multifocal Congenital Hemangiopericytoma.

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Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

Developmental dysgraphia with profound hearing impairment: intervention by auditory methods enabled by cochlear implant.

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Fukushima, Kunihiro; Kawasaki, Akihiro; Nagayasu, Rie; Kunisue, Kazuya; Maeda, Yukihide; Kariya, Shin; Kataoka, Yuko; Nishizaki, Kazunori

2008-06-01

Learning disability combined with hearing impairment (LDHI) is a poor prognostic factor for the language development of hearing impaired children after educational intervention. A typical example of a child with LDHI and effective interventions provided by cochlear implants are presented in this report. A case of congenital cytomegaloviral infection that showed dysgraphia as well as profound deafness was reported and an underlying visual processing problem diagnosed in the present case caused the patient's dysgraphia. The dysgraphia could be circumvented by the use of auditory memory fairly established by a cochlear implant.

Neuropsychiatric symptoms in Vascular Cognitive Impairment: A systematic review

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Chan Tiel

Full Text Available Neuropsychiatric symptoms or Behavioral and Psychological Symptoms of Dementia (BPSD are common and invariably appear at some point during the course of the disease, mediated both by cerebrovascular disease and neurodegenerative processes. Few studies have compared the profiles of BPSD in Vascular Cognitive Impairment (VCI of different subtypes (subcortical or cortical and clinical stages (Vascular Cognitive Impairment No Dementia [VaCIND] and Vascular Dementia [VaD].Objective:To review the BPSD associated with different subtypes and stages of VCI using the Neuropsychiatric Inventory (NPI.Methods:Medline, Scielo and Lilacs databases were searched for the period January 2000 to December 2014, with the key words: "BPSD AND Vascular Dementia, "NPI AND Vascular Dementia" and "NPI AND VCI. Qualitative analysis was performed on studies evaluating BPSD in VCI, using the Neuropsychiatric Inventory (NPI.Results:A total of 82 studies were retrieved of which 13 were eligible and thus included. Among the articles selected, 4 compared BPSD in Subcortical Vascular Dementia (SVaD versus Cortical-Subcortical Vascular Dementia (CSVaD, 3 involved comparisons between SVaD and VaCIND, 1 study analyzed differences between CSVaD and VaCIND, while 5 studies assessed BPSD in CSVaD. Subcortical and Cortical-Subcortical VaD were associated predominantly with Apathy and Depression. VaCIND may present fewer behavioral symptoms than VaD.Conclusion:The profile of BPSD differs for different stages of VCI. Determining the most prevalent BPSD in VCI subtypes might be helpful for improving early diagnosis and management of these symptoms.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

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Nicole, Sophie; Chaouch, Amina; Torbergsen, Torberg; Bauché, Stéphanie; de Bruyckere, Elodie; Fontenille, Marie-Joséphine; Horn, Morten A; van Ghelue, Marijke; Løseth, Sissel; Issop, Yasmin; Cox, Daniel; Müller, Juliane S; Evangelista, Teresinha; Stålberg, Erik; Ioos, Christine; Barois, Annie; Brochier, Guy; Sternberg, Damien; Fournier, Emmanuel; Hantaï, Daniel; Abicht, Angela; Dusl, Marina; Laval, Steven H; Griffin, Helen; Eymard, Bruno; Lochmüller, Hanns

2014-09-01

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly homogenous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy reminiscent of a distal myopathy. MRI and neurophysiological studies were compatible with mild myopathy restricted to distal limb muscles, but decrement (up to 72%) in response to 3 Hz repetitive nerve stimulation pointed towards a neuromuscular transmission defect. Post-exercise increment (up to 285%) was observed in the distal limb muscles in all cases suggesting presynaptic congenital myasthenic syndrome. Immunofluorescence and ultrastructural analyses of muscle end-plate regions showed synaptic remodelling with denervation-reinnervation events. We performed whole-exome sequencing in two kinships and Sanger sequencing in one isolated case and identified five new recessive mutations in the gene encoding agrin. This synaptic proteoglycan with critical function at the neuromuscular junction was previously found mutated in more typical forms of congenital myasthenic syndrome. In our patients, we found two missense mutations residing in the N-terminal agrin domain, which reduced acetylcholine receptors clustering activity of agrin in vitro. Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an unexpected

Cortical processing of swallowing in ALS patients with progressive dysphagia--a magnetoencephalographic study.

Directory of Open Access Journals (Sweden)

Inga K Teismann

Full Text Available Amyotrophic lateral sclerosis (ALS is a rare disease causing degeneration of the upper and lower motor neuron. Involvement of the bulbar motor neurons often results in fast progressive dysphagia. While cortical compensation of dysphagia has been previously shown in stroke patients, this topic has not been addressed in patients suffering from ALS. In the present study, we investigated cortical activation during deglutition in two groups of ALS patients with either moderate or severe dysphagia. Whole-head MEG was employed on fourteen patients with sporadic ALS using a self-paced swallowing paradigm. Data were analyzed by means of time-frequency analysis and synthetic aperture magnetometry (SAM. Group analysis of individual SAM data was performed using a permutation test. We found a reduction of cortical swallowing related activation in ALS patients compared to healthy controls. Additionally a disease-related shift of hemispheric lateralization was observed. While healthy subjects showed bilateral cortical activation, the right sensorimotor cortex was predominantly involved in ALS patients. Both effects were even stronger in the group of patients with severe dysphagia. Our results suggest that bilateral degeneration of the upper motor neuron in the primary motor areas also impairs further adjusted motor areas, which leads to a strong reduction of 'swallowing related' cortical activation. While both hemispheres are affected by the degeneration a relatively stronger activation is seen in the right hemisphere. This right hemispheric lateralization of volitional swallowing observed in this study may be the only sign of cortical plasticity in dysphagic ALS patients. It may demonstrate compensational mechanisms in the right hemisphere which is known to predominantly coordinate the pharyngeal phase of deglutition. These results add new aspects to our understanding of the pathophysiology of dysphagia in ALS patients and beyond. The compensational

Fibrinogen function is impaired in whole blood from patients with cyanotic congenital heart disease

DEFF Research Database (Denmark)

Jensen, A S; Johansson, Pär I.; Bochsen, Louise

2013-01-01

haemoptysis. METHODS: In a prospective study 75 adult CCHD patients had haematocrit, platelet count, and plasma fibrinogen concentration examined. Furthermore thrombelastography(TEG) as well as TEG Functional Fibrinogen(TEG FF) assay evaluating fibrinogen function(FLEV) was performed. Data were compared...... with historical data regarding previous haemoptysis in CCHD patients. RESULTS: Haematocrit was 57±8% and platelet counts in the lower normal range. TEG revealed a hypocoagulable condition with impaired clot formation. TEG values were correlated to haematocrit, indicating that elevated haematocrit causes impaired....... CONCLUSION: Patients with CCHD are hypocoagulable mainly due to impaired fibrinogen function. Despite a low platelet count, platelet function does not seem to be severely affected in CCHD patients. Haemostasis, and especially fibrinogen function, is negatively affected by elevated haematocrit, and fibrinogen...

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

Science.gov (United States)

Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

2016-12-01

Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. Description of the major lesions caused by ZIKV congenital infection. Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and

The Cerebral Cost of Breathing: An fMRI Case-Study in Congenital Central Hypoventilation Syndrome

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Sharman, Mike; Gallea, Cécile; Lehongre, Katia; Galanaud, Damien; Nicolas, Nathalie; Similowski, Thomas; Cohen, Laurent; Straus, Christian; Naccache, Lionel

2014-01-01

Certain motor activities - like walking or breathing - present the interesting property of proceeding either automatically or under voluntary control. In the case of breathing, brainstem structures located in the medulla are in charge of the automatic mode, whereas cortico-subcortical brain networks - including various frontal lobe areas - subtend the voluntary mode. We speculated that the involvement of cortical activity during voluntary breathing could impact both on the “resting state” pattern of cortical-subcortical connectivity, and on the recruitment of executive functions mediated by the frontal lobe. In order to test this prediction we explored a patient suffering from central congenital hypoventilation syndrome (CCHS), a very rare developmental condition secondary to brainstem dysfunction. Typically, CCHS patients demonstrate efficient cortically-controlled breathing while awake, but require mechanically-assisted ventilation during sleep to overcome the inability of brainstem structures to mediate automatic breathing. We used simultaneous EEG-fMRI recordings to compare patterns of brain activity between these two types of ventilation during wakefulness. As compared with spontaneous breathing (SB), mechanical ventilation (MV) restored the default mode network (DMN) associated with self-consciousness, mind-wandering, creativity and introspection in healthy subjects. SB on the other hand resulted in a specific increase of functional connectivity between brainstem and frontal lobe. Behaviorally, the patient was more efficient in cognitive tasks requiring executive control during MV than during SB, in agreement with her subjective reports in everyday life. Taken together our results provide insight into the cognitive and neural costs of spontaneous breathing in one CCHS patient, and suggest that MV during waking periods may free up frontal lobe resources, and make them available for cognitive recruitment. More generally, this study reveals how the active

Reduced modulation of scanpaths in response to task demands in posterior cortical atrophy.

Science.gov (United States)

Shakespeare, Timothy J; Pertzov, Yoni; Yong, Keir X X; Nicholas, Jennifer; Crutch, Sebastian J

2015-02-01

A difficulty in perceiving visual scenes is one of the most striking impairments experienced by patients with the clinico-radiological syndrome posterior cortical atrophy (PCA). However whilst a number of studies have investigated perception of relatively simple experimental stimuli in these individuals, little is known about multiple object and complex scene perception and the role of eye movements in posterior cortical atrophy. We embrace the distinction between high-level (top-down) and low-level (bottom-up) influences upon scanning eye movements when looking at scenes. This distinction was inspired by Yarbus (1967), who demonstrated how the location of our fixations is affected by task instructions and not only the stimulus' low level properties. We therefore examined how scanning patterns are influenced by task instructions and low-level visual properties in 7 patients with posterior cortical atrophy, 8 patients with typical Alzheimer's disease, and 19 healthy age-matched controls. Each participant viewed 10 scenes under four task conditions (encoding, recognition, search and description) whilst eye movements were recorded. The results reveal significant differences between groups in the impact of test instructions upon scanpaths. Across tasks without a search component, posterior cortical atrophy patients were significantly less consistent than typical Alzheimer's disease patients and controls in where they were looking. By contrast, when comparing search and non-search tasks, it was controls who exhibited lowest between-task similarity ratings, suggesting they were better able than posterior cortical atrophy or typical Alzheimer's disease patients to respond appropriately to high-level needs by looking at task-relevant regions of a scene. Posterior cortical atrophy patients had a significant tendency to fixate upon more low-level salient parts of the scenes than controls irrespective of the viewing task. The study provides a detailed characterisation of

Minimally conscious state or cortically mediated state?

Science.gov (United States)

Naccache, Lionel

2018-04-01

Durable impairments of consciousness are currently classified in three main neurological categories: comatose state, vegetative state (also recently coined unresponsive wakefulness syndrome) and minimally conscious state. While the introduction of minimally conscious state, in 2002, was a major progress to help clinicians recognize complex non-reflexive behaviours in the absence of functional communication, it raises several problems. The most important issue related to minimally conscious state lies in its criteria: while behavioural definition of minimally conscious state lacks any direct evidence of patient's conscious content or conscious state, it includes the adjective 'conscious'. I discuss this major problem in this review and propose a novel interpretation of minimally conscious state: its criteria do not inform us about the potential residual consciousness of patients, but they do inform us with certainty about the presence of a cortically mediated state. Based on this constructive criticism review, I suggest three proposals aiming at improving the way we describe the subjective and cognitive state of non-communicating patients. In particular, I present a tentative new classification of impairments of consciousness that combines behavioural evidence with functional brain imaging data, in order to probe directly and univocally residual conscious processes.

Phonological processing in Mandarin speakers with congenital amusia.

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Wang, Xiao; Peng, Gang

2014-12-01

Although there is an emerging consensus that both musical and linguistic pitch processing can be problematic for individuals with a developmental disorder termed congenital amusia, the nature of such a pitch-processing deficit, especially that demonstrated in a speech setting, remains unclear. Therefore, this study tested the performance of native Mandarin speakers, both with and without amusia, on discrimination and imitation tasks for Cantonese level tones, aiming to shed light on this issue. Results suggest that the impact of the phonological deficit, coupled with that of the domain-general pitch deficit, could provide a more comprehensive interpretation of Mandarin amusics' speech impairment. Specifically, when there was a high demand for pitch sensitivity, as in fine-grained pitch discriminations, the operation of the pitch-processing deficit played the more predominant role in modulating amusics' speech performance. But when the demand was low, as in discriminating naturally produced Cantonese level tones, the impact of the phonological deficit was more pronounced compared to that of the pitch-processing deficit. However, despite their perceptual deficits, Mandarin amusics' imitation abilities were comparable to controls'. Such selective impairment in tonal perception suggests that the phonological deficit more severely implicates amusics' input pathways.

Cross-sensory gating in schizophrenia and autism spectrum disorder : EEG evidence for impaired brain connectivity?

NARCIS (Netherlands)

Magnee, Maurice J. C. M.; Oranje, Bob; van Engeland, Herman; Kahn, Rene S.; Kemner, Chantal

Autism spectrum disorders (ASD) and schizophrenia are both neurodevelopmental disorders that have extensively been associated with impairments in functional brain connectivity. Using a cross-sensory P50 suppression paradigm, this study investigated low-level audiovisual interactions on cortical EEG

Impaired hand size estimation in CRPS.

Science.gov (United States)

Peltz, Elena; Seifert, Frank; Lanz, Stefan; Müller, Rüdiger; Maihöfner, Christian

2011-10-01

A triad of clinical symptoms, ie, autonomic, motor and sensory dysfunctions, characterizes complex regional pain syndromes (CRPS). Sensory dysfunction comprises sensory loss or spontaneous and stimulus-evoked pain. Furthermore, a disturbance in the body schema may occur. In the present study, patients with CRPS of the upper extremity and healthy controls estimated their hand sizes on the basis of expanded or compressed schematic drawings of hands. In patients with CRPS we found an impairment in accurate hand size estimation; patients estimated their own CRPS-affected hand to be larger than it actually was when measured objectively. Moreover, overestimation correlated significantly with disease duration, neglect score, and increase of two-point-discrimination-thresholds (TPDT) compared to the unaffected hand and to control subjects' estimations. In line with previous functional imaging studies in CRPS patients demonstrating changes in central somatotopic maps, we suggest an involvement of the central nervous system in this disruption of the body schema. Potential cortical areas may be the primary somatosensory and posterior parietal cortices, which have been proposed to play a critical role in integrating visuospatial information. CRPS patients perceive their affected hand to be bigger than it is. The magnitude of this overestimation correlates with disease duration, decreased tactile thresholds, and neglect-score. Suggesting a disrupted body schema as the source of this impairment, our findings corroborate the current assumption of a CNS involvement in CRPS. Copyright © 2011 American Pain Society. Published by Elsevier Inc. All rights reserved.

Obstructive sleep apnea and cortical thickness in females and males.

Science.gov (United States)

Macey, Paul M; Haris, Natasha; Kumar, Rajesh; Thomas, M Albert; Woo, Mary A; Harper, Ronald M

2018-01-01

Obstructive sleep apnea (OSA) affects approximately 10% of adults, and alters brain gray and white matter. Psychological and physiological symptoms of the disorder are sex-specific, perhaps related to greater injury occurs in female than male patients in white matter. Our objective was to identify influences of OSA separated by sex on cortical gray matter. We assessed cortical thickness in 48 mild-severe OSA patients (mean age±std[range] = 46.5±9.0[30.8-62.7] years; apnea-hypopnea index = 32.6±21.1[6-102] events/hour; 12 female, 36 male; OSA severity: 5 mild, 18 moderate, 25 severe) and 62 controls (mean age = 47.7±8.9[30.9-65.8] years; 22 female, 40 male). All OSA patients were recently-diagnosed via polysomnography, and control subjects screened and a subset assessed with sleep studies. We used high-resolution magnetic resonance imaging to identify OSA-related cortical thinning, based on a model with condition and sex as independent variables. OSA and OSA-by-sex interaction effects were assessed (Pfrontal lobe in female OSA vs. all other groups. Significant thinning within the pre- and post-central gyri and the superior temporal gyrus, extending into the insula, appeared between the general OSA populations vs. control subjects. No areas showed increased thickness in OSA vs. controls or positive female OSA interaction effects. Reduced cortical thickness likely represents tissue atrophy from long term injury, including death of neurons and supporting glia from repeated intermittent hypoxic exposure in OSA, although disease comordities may also contribute to thinning. Lack of polysomnography in all control subjects means results may be confounded by undiagnosed OSA. The greater cortical injury in cognitive areas of female OSA patients may underlie enhanced symptoms in that group. The thinning associated with OSA in male and females OSA patients may contribute to autonomic dysregulation and impaired upper airway sensori-motor function.

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Different Functional and Microstructural Changes Depending on Duration of Mild Cognitive Impairment in Parkinson Disease.

Science.gov (United States)

Shin, N-Y; Shin, Y S; Lee, P H; Yoon, U; Han, S; Kim, D J; Lee, S-K

2016-05-01

The higher cortical burden of Lewy body and Alzheimer disease-type pathology has been reported to be associated with a faster onset of cognitive impairment of Parkinson disease. So far, there has been a few studies only about the changes of gray matter volume depending on duration of cognitive impairment in Parkinson disease. Therefore, our aim was to evaluate the different patterns of structural and functional changes in Parkinson disease with mild cognitive impairment according to the duration of parkinsonism before mild cognitive impairment. Fifty-nine patients with Parkinson disease with mild cognitive impairment were classified into 2 groups on the basis of shorter (parkinsonism before mild cognitive impairment. Fifteen drug-naïve patients with de novo Parkinson disease with intact cognition were included for comparison. Cortical thickness, Tract-Based Spatial Statistics, and seed-based resting-state functional connectivity analyses were performed. Age, sex, years of education, age at onset of parkinsonism, and levodopa-equivalent dose were included as covariates. The group with shorter duration of parkinsonism before mild cognitive impairment showed decreased fractional anisotropy and increased mean and radial diffusivity values in the frontal areas compared with the group with longer duration of parkinsonism before mild cognitive impairment (corrected P parkinsonism before mild cognitive impairment showed decreased resting-state functional connectivity in the default mode network area when the left or right posterior cingulate was used as a seed, and in the dorsolateral prefrontal areas when the left or right caudate was used as a seed (corrected P parkinsonism before mild cognitive impairment showed decreased resting-state functional connectivity mainly in the medial prefrontal cortex when the left or right posterior cingulate was used as a seed, and in the parieto-occipital areas when the left or right caudate was used as a seed (corrected P Parkinson

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

Directory of Open Access Journals (Sweden)

Diana Bancin

2015-03-01

Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

Congenital cataract screening

Directory of Open Access Journals (Sweden)

Zhale Rajavi

2016-01-01

Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

DEFF Research Database (Denmark)

Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie

2014-01-01

and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6 months after......Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... birth. Results 276 fetuses with CHD were identified. 114 (41%) were genetically screened primarily by chromosomal microarray analysis (n=82). Fetuses with identified chromosomal abnormalities were excluded as were multiple gestation fetuses and fetuses with major extra cardiac malformations. Data from...

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

Genetic testing for hearing impairment.

Science.gov (United States)

Topsakal, V; Van Camp, G; Van de Heyning, P

2005-01-01

For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary hearing impairment (HHI) and the comparably low clinical differentiation of the HHIs. In an attempt to keep up with the scientific progress, this article enumerates the indications of genetic testing for HHI from a clinical point of view and describes the most frequently encountered HHIs in Belgium. Domains of recent scientific interest, molecular biological aspects, and some pitfalls with HHIs are highlighted. The overview comprises bilateral congenital hearing loss, late-onset progressive high frequency hearing loss, progressive bilateral cochleo-vestibular deficit, and progressive low frequency hearing loss. Also, several syndromal forms of HHI are summarized, and the availability of genetic tests mentioned. Finally, the requirements for successful linkage analysis, an important genetic research tool for localizing the potential genes of a trait on a chromosome, are briefly described.

Deficiência auditiva na toxoplasmose congênita detectada pela triagem neonatal Hearing loss in congenital toxoplasmosis detected by newborn screening

Directory of Open Access Journals (Sweden)

Gláucia Manzan Queiroz de Andrade

2008-02-01

Full Text Available A toxoplasmose congênita pode causar déficit neurossensorial em até 20% dos casos e o tratamento no primeiro ano de vida melhora o prognóstico. No Brasil, desconhece-se o impacto da infecção na hipoacusia. OBJETIVO: Avaliar a audição de crianças com toxoplasmose congênita identificadas pela triagem neonatal. MATERIAL E MÉTODO: Estudo prospectivo de crianças com toxoplasmose congênita identificadas pela triagem neonatal (IgM anti-T. gondii em Belo Horizonte, durante 2003/2004. Realizada sorologia confirmatória (mãe/filho e consideradas positivas as crianças apresentando IgM e/ou IgA nos primeiros seis meses ou IgG aos 12 meses de vida. Avaliações auditivas ao diagnóstico e após 12 meses incluíram Audiometria Comportamental, Emissões Otoacústicas, Imitanciometria, Audiometria de Tronco Encefálico. RESULTADOS: Dentre 30.808 crianças triadas (97% dos nascidos vivos, 20 apresentavam toxoplasmose congênita, 15 (75% com infecção subclínica. Dezenove crianças realizaram avaliação auditiva. Quatro apresentaram déficit neurossensorial (21,1%. Uma criança apresentou outros fatores de risco para hipoacusia; nas outras três, a toxoplasmose foi o único fator observado. Duas crianças, tratadas adequadamente com antiparasitários, apresentaram déficit auditivo, em desacordo com a literatura. CONCLUSÃO: Os achados sugerem que a toxoplasmose congênita, prevalente no Brasil, é um fator de risco para hipoacusia e o impacto dessa infecção nas perdas auditivas deve ser estudado.Congenital toxoplasmosis may cause sensorineural deficit in up to 20% of the patients and proper treatment in the first year improves prognosis. In Brazil, this infection’s impact on hearing impairment is unknown. AIM: To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. METHOD: This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti

Cortical drive to breathe in amyotrophic lateral sclerosis: a dyspnoea-worsening defence?

Science.gov (United States)

Georges, Marjolaine; Morawiec, Elise; Raux, Mathieu; Gonzalez-Bermejo, Jésus; Pradat, Pierre-François; Similowski, Thomas; Morélot-Panzini, Capucine

2016-06-01

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing diaphragm weakness that can be partially compensated by inspiratory neck muscle recruitment. This disappears during sleep, which is compatible with a cortical contribution to the drive to breathe. We hypothesised that ALS patients with respiratory failure exhibit respiratory-related cortical activity, relieved by noninvasive ventilation (NIV) and related to dyspnoea.We studied 14 ALS patients with respiratory failure. Electroencephalographic recordings (EEGs) and electromyographic recordings of inspiratory neck muscles were performed during spontaneous breathing and NIV. Dyspnoea was evaluated using the Multidimensional Dyspnea Profile.Eight patients exhibited slow EEG negativities preceding inspiration (pre-inspiratory potentials) during spontaneous breathing. Pre-inspiratory potentials were attenuated during NIV (p=0.04). Patients without pre-inspiratory potentials presented more advanced forms of ALS and more severe respiratory impairment, but less severe dyspnoea. Patients with pre-inspiratory potentials had stronger inspiratory neck muscle activation and more severe dyspnoea during spontaneous breathing.ALS-related diaphragm weakness can engage cortical resources to augment the neural drive to breathe. This might reflect a compensatory mechanism, with the intensity of dyspnoea a negative consequence. Disease progression and the corresponding neural loss could abolish this phenomenon. A putative cognitive cost should be investigated. Copyright ©ERS 2016.

Assessment of cortical maturation with prenatal MRI. Part I: normal cortical maturation

Energy Technology Data Exchange (ETDEWEB)

Fogliarini, Celine [Faculte Timone, Centre de Resonance Magnetique Biologique et Medicale, Marseille (France); Chaumoitre, Katia [Hopital Nord, Department of Radiology, Marseille (France); Chapon, Frederique; Levrier, Olivier; Girard, Nadine [Hopital Timone, Department of Neuroradiology, Marseille Cedex 5 (France); Fernandez, Carla; Figarella-Branger, Dominique [Hopital Timone, Department of Pathology, Marseille (France)

2005-08-01

Cortical maturation, especially gyral formation, follows a temporospatial schedule and is a good marker of fetal maturation. Although ultrasonography is still the imaging method of choice to evaluate fetal anatomy, MRI has an increasingly important role in the detection of brain abnormalities, especially of cortical development. Knowledge of MRI techniques in utero with the advantages and disadvantages of some sequences is necessary, in order to try to optimize the different magnetic resonance sequences to be able to make an early diagnosis. The different steps of cortical maturation known from histology represent the background necessary for the understanding of maturation in order to be then able to evaluate brain maturation through neuroimaging. Illustrations of the normal cortical maturation are given for each step accessible to MRI for both the cerebral hemispheres and the posterior fossa. (orig.)

Assessment of cortical maturation with prenatal MRI. Part I: normal cortical maturation

International Nuclear Information System (INIS)

Fogliarini, Celine; Chaumoitre, Katia; Chapon, Frederique; Levrier, Olivier; Girard, Nadine; Fernandez, Carla; Figarella-Branger, Dominique

2005-01-01

Cortical maturation, especially gyral formation, follows a temporospatial schedule and is a good marker of fetal maturation. Although ultrasonography is still the imaging method of choice to evaluate fetal anatomy, MRI has an increasingly important role in the detection of brain abnormalities, especially of cortical development. Knowledge of MRI techniques in utero with the advantages and disadvantages of some sequences is necessary, in order to try to optimize the different magnetic resonance sequences to be able to make an early diagnosis. The different steps of cortical maturation known from histology represent the background necessary for the understanding of maturation in order to be then able to evaluate brain maturation through neuroimaging. Illustrations of the normal cortical maturation are given for each step accessible to MRI for both the cerebral hemispheres and the posterior fossa. (orig.)

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Studies of insulin resistance in congenital generalized lipodystrophy

DEFF Research Database (Denmark)

Søvik, O; Vestergaard, H; Trygstad, O

1996-01-01

suppressed lipid oxidation in the controls. It is concluded that patients with congenital generalized lipodystrophy may present severe insulin resistance with regard to hepatic glucose production as well as muscle glycogen synthesis and lipid oxidation. The results suggest a postreceptor defect in the action......, immunoreactive protein and mRNA levels. The patients had fasting hyperinsulinaemia, and the rate of total glucose disposal was severely impaired, primarily due to a decreased non-oxidative glucose metabolism. In the patient studied with muscle biopsy, the expected activation of glycogen synthase by insulin did...... not occur. In both patients there was severely increased hepatic glucose output in the basal state, suggesting a failure of insulin to suppress hepatic gluconeogenesis. During insulin infusion a substantially elevated rate of lipid oxidation remained in the patients, in contrast to the almost completely...

The cortical signature of amyotrophic lateral sclerosis.

Directory of Open Access Journals (Sweden)

Federica Agosta

Full Text Available The aim of this study was to explore the pattern of regional cortical thickness in patients with non-familial amyotrophic lateral sclerosis (ALS and to investigate whether cortical thinning is associated with disease progression rate. Cortical thickness analysis was performed in 44 ALS patients and 26 healthy controls. Group differences in cortical thickness and the age-by-group effects were assessed using vertex-by-vertex and multivariate linear models. The discriminatory ability of MRI variables in distinguishing patients from controls was estimated using the Concordance Statistics (C-statistic within logistic regression analyses. Correlations between cortical thickness measures and disease progression rate were tested using the Pearson coefficient. Relative to controls, ALS patients showed a bilateral cortical thinning of the primary motor, prefrontal and ventral frontal cortices, cingulate gyrus, insula, superior and inferior temporal and parietal regions, and medial and lateral occipital areas. There was a significant age-by-group effect in the sensorimotor cortices bilaterally, suggesting a stronger association between age and cortical thinning in ALS patients compared to controls. The mean cortical thickness of the sensorimotor cortices distinguished patients with ALS from controls (C-statistic ≥ 0.74. Cortical thinning of the left sensorimotor cortices was related to a faster clinical progression (r = -0.33, p = 0.03. Cortical thickness measurements allowed the detection and quantification of motor and extramotor involvement in patients with ALS. Cortical thinning of the precentral gyrus might offer a marker of upper motor neuron involvement and disease progression.

The cortical signature of amyotrophic lateral sclerosis.

Science.gov (United States)

Agosta, Federica; Valsasina, Paola; Riva, Nilo; Copetti, Massimiliano; Messina, Maria Josè; Prelle, Alessandro; Comi, Giancarlo; Filippi, Massimo

2012-01-01

The aim of this study was to explore the pattern of regional cortical thickness in patients with non-familial amyotrophic lateral sclerosis (ALS) and to investigate whether cortical thinning is associated with disease progression rate. Cortical thickness analysis was performed in 44 ALS patients and 26 healthy controls. Group differences in cortical thickness and the age-by-group effects were assessed using vertex-by-vertex and multivariate linear models. The discriminatory ability of MRI variables in distinguishing patients from controls was estimated using the Concordance Statistics (C-statistic) within logistic regression analyses. Correlations between cortical thickness measures and disease progression rate were tested using the Pearson coefficient. Relative to controls, ALS patients showed a bilateral cortical thinning of the primary motor, prefrontal and ventral frontal cortices, cingulate gyrus, insula, superior and inferior temporal and parietal regions, and medial and lateral occipital areas. There was a significant age-by-group effect in the sensorimotor cortices bilaterally, suggesting a stronger association between age and cortical thinning in ALS patients compared to controls. The mean cortical thickness of the sensorimotor cortices distinguished patients with ALS from controls (C-statistic ≥ 0.74). Cortical thinning of the left sensorimotor cortices was related to a faster clinical progression (r = -0.33, p = 0.03). Cortical thickness measurements allowed the detection and quantification of motor and extramotor involvement in patients with ALS. Cortical thinning of the precentral gyrus might offer a marker of upper motor neuron involvement and disease progression.

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

2003-01-01

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

Effects of Aging on Cortical Neural Dynamics and Local Sleep Homeostasis in Mice.

Science.gov (United States)

McKillop, Laura E; Fisher, Simon P; Cui, Nanyi; Peirson, Stuart N; Foster, Russell G; Wafford, Keith A; Vyazovskiy, Vladyslav V

2018-04-18

Healthy aging is associated with marked effects on sleep, including its daily amount and architecture, as well as the specific EEG oscillations. Neither the neurophysiological underpinnings nor the biological significance of these changes are understood, and crucially the question remains whether aging is associated with reduced sleep need or a diminished capacity to generate sufficient sleep. Here we tested the hypothesis that aging may affect local cortical networks, disrupting the capacity to generate and sustain sleep oscillations, and with it the local homeostatic response to sleep loss. We performed chronic recordings of cortical neural activity and local field potentials from the motor cortex in young and older male C57BL/6J mice, during spontaneous waking and sleep, as well as during sleep after sleep deprivation. In older animals, we observed an increase in the incidence of non-rapid eye movement sleep local field potential slow waves and their associated neuronal silent (OFF) periods, whereas the overall pattern of state-dependent cortical neuronal firing was generally similar between ages. Furthermore, we observed that the response to sleep deprivation at the level of local cortical network activity was not affected by aging. Our data thus suggest that the local cortical neural dynamics and local sleep homeostatic mechanisms, at least in the motor cortex, are not impaired during healthy senescence in mice. This indicates that powerful protective or compensatory mechanisms may exist to maintain neuronal function stable across the life span, counteracting global changes in sleep amount and architecture. SIGNIFICANCE STATEMENT The biological significance of age-dependent changes in sleep is unknown but may reflect either a diminished sleep need or a reduced capacity to generate deep sleep stages. As aging has been linked to profound disruptions in cortical sleep oscillations and because sleep need is reflected in specific patterns of cortical activity, we

HIV Infection Is Associated with Impaired Striatal Function during Inhibition with Normal Cortical Functioning on Functional MRI