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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Nervous System Malformations (11):
- Holoprosencephaly
- Dandy-Walker Syndrome
- Central Nervous System Vascular Malformations
- Malformations of Cortical Development
- Central Nervous System Cysts
- Hydranencephaly
- Hereditary Sensory and Autonomic Neuropathies
- Neural Tube Defects
- Septo-Optic Dysplasia
- Hereditary Motor and Sensory Neuropathies
- Acrocallosal Syndrome
Recent article
Nervous System Malformations
Prenatal Diagnosis (31)1 2011
Abstract
To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities.
Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-...
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PMID: 21210483
PDF is available here.
PDF is available here.
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Neurological Surgery (38)12 2010
Abstract
Journal de Radiologie (91)9 Pt 2 2010
Abstract
Abstract
Human Genetics (128)1 2010
Abstract
We review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region....
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PMID: 20437059
PDF is available here.
PDF is available here.
Abstract
A 44-year-old man with progressive ataxia, facial weakness, bilateral adduction deficits, and abducting nystagmus was initially misdiagnosed and treated for multiple sclerosis because a midbrain anatomic cleft had been overlooked on brain MRI. Six cases of "midbrain (or mesencephalic) cleft" or "key...
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PMID: 20393349
PDF is available here.
PDF is available here.
Abstract
Our case is the first instance of the chiasmal spur being discovered and photographed intraoperatively....
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PMID: 20431488
PDF is available here.
PDF is available here.
Abstract
Neurosurgery (66)3 Suppl 2010
Abstract
Cerebellum (9)1 2010
Abstract
We present the case of a patient with Chiari II malformation mimicking partial rhombencephalosynapsis....
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PMID: 19821003
PDF is available here.
PDF is available here.
Abstract
Abstract
Monochorionic biamniotic (MC/BA) twin pregnancies are at higher risk for twin-to-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR) and structural defects.
During an 18 months period all MC/BA twins referred to our unit for clinical surveillance were evaluated. Chori...
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PMID: 20939222
PDF is available here.
PDF is available here.
Przeglad lekarski (67)4 2010
Abstract
Prenatal MRI in congenital central nervous system defects allows to obtain much more important therapeutic data and complement or correct the fetal sonographic diagnosis. Prenatal MRI allows to plan gynaecological, neonatal, neurosurgical treatment, and to predict neurological defects. It also impro...
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PMID: 20687357
PDF is available here.
PDF is available here.
Przeglad lekarski (67)1 2010
Abstract
The paper compares effectiveness of NDT-Bobath and Vojta methods in the treatment of selected dysfunctions of the nervous system in children. It evaluates applicability of both methods in prenatal and perinatal injury of the central nervous system, myelomeningocele, Down syndrome and spasticity. The...
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PMID: 20509578
PDF is available here.
PDF is available here.
Turkish Neurosurgery (20)1 2010
Abstract
We aimed to describe our case with ACC.
Our case was a newborn infant with a large full thickness skin and skull defect on the scalp at birth. He also had hypoplasia on the fingers, omphalocele, ectopic anus, cleft lip and palate anomalies and multiple cardiac anomalies. We planned further evaluatio...
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PMID: 20066625
PDF is available here.
PDF is available here.
Abstract
We have generated Sulf1- and Sulf2-deficient mice. Phenotypic analysis of these animals revealed higher embryonic lethality of Sulf2 knockout mice, which can be associated with neuroanatomical malformations during embryogenesis. Sulf1 seems not to be essential for developmental or postnatal viabilit...
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PMID: 19602058
PDF is available here.
PDF is available here.
Abstract
Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9), being 0.36% of the CNS (IC=95%,(0.29-0.43)). The most common CNS malformation was meningomielocele (10.4%). Young maternal age (p=0.005); low birth weight (p=0.015); large cephalic perimeter (p=0.00...
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PMID: 19838508
PDF is available here.
PDF is available here.
Epileptic Disorders (11)3 2009
Abstract
We discuss neuropathological findings and available classification systems in children and adult patients. Particular emphasis will be paid to the classification system for focal cortical dysplasias (FCD), which can be histopathologically distinguished as type I and II. Also mild forms of cortical m...
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PMID: 19736171
PDF is available here.
PDF is available here.
Epileptic Disorders (11)3 2009
Abstract
I and II. Some subtle FCD, which were previously cryptic to imaging investigation, can now be recognized by MRI, however their detection and specification remains challenging. This review will re-visit the neuroimaging findings, including structural MRI, PET, co-registered PET/MRI, MEG and diffusion...
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PMID: 19720583
PDF is available here.
PDF is available here.
Abstract
Orvosi Hetilap (150)27 2009
Abstract
MRI investigation, as an imaging technique, has been gaining more and more importance in prenatal diagnostics. It has become essential due to its advantages in diagnosing the malformations of the central nervous system. Similarly to ultrasonography, its reliability is greatly dependent on the knowle...
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PMID: 19531461
PDF is available here.
PDF is available here.
Abstract
We address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD. Finally, the last part of this presentation will address the correlation between MCD and epilepsy....
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PMID: 19623469
PDF is available here.
PDF is available here.
Nippon Ganka Gakkai zasshi (113)6 2009
Abstract
To report two familial cases of optic nerve hypoplasia including superior segmental optic hypoplasia (SSOH).
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PMID: 19606808
PDF is available here.
PDF is available here.
Abstract
Prenatal Diagnosis (29)4 2009
Abstract
We review the current state of knowledge regarding the investigation, management and prognosis of the most common and important CNS malformations. We also discuss the post-natal management of these conditions both in the neonate and subsequent pregnancies for the families....
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PMID: 19333959
PDF is available here.
PDF is available here.
Prenatal Diagnosis (29)4 2009
Abstract
In the following review, the early development of the central nervous system (CNS), as described by embryologists and anatomists in modern embryological textbooks, is compared with sonoanatomic descriptions from two-dimensional (2D) and three-dimensional (3D) ultrasound studies, week by week in the...
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PMID: 19194866
PDF is available here.
PDF is available here.
Human Genetics (125)2 2009
Abstract
We studied XCI patterns in DNA extracted from peripheral blood leukocytes of 35 girls with typical Aicardi syndrome (AIC) from 0.25 to 16.42 years of age, using the human androgen receptor assay. Data on 33 informative samples showed non-random XCI in 11 (33%), defined as a >80:20% skewed ratio of o...
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PMID: 19116729
PDF is available here.
PDF is available here.
Brain and Development (31)3 2009
Abstract
Sonography is the method of choice for prenatal malformation screening but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal magnetic resonance imaging (MRI) is considered as a valuable second line imaging tool for confirmation, complet...
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PMID: 18762395
PDF is available here.
PDF is available here.
Neuroreport (20)3 2009
Abstract
We speculate that impairments in executive function in VLBW children may be influenced by disturbed connectivity between posterior brain regions and the prefrontal cortex....
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PMID: 19444947
PDF is available here.
PDF is available here.
Child's Nervous System (25)2 2009
Abstract
Prenatal diagnosis of CNS pathologies should result in parental counseling. Sufficient diagnostic information, statistical data, and experience of the involved professionals are essential. These results show that in detecting congenital CNS abnormalities fMRI is superior to ultrasound and should be...
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PMID: 19039594
PDF is available here.
PDF is available here.
Clinical Neurophysiology (120)1 2009
Abstract
EMG activity is enhanced and the cortical SEP recovery cycle and BCR are hyperexcitable in vaginismus. SIGNIFICANCE: The neurophysiological abnormalities in patients with vaginismus indicate concomitant CNS changes in this disorder....
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PMID: 19071060
PDF is available here.
PDF is available here.
Abstract
Ataxia was present in all patients, but daily life activities were partly restricted in only one. Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological scores on both attention and hyperactivity/impulsivity scales. Only two patients ha...
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PMID: 18407532
PDF is available here.
PDF is available here.
Abstract
Refractory, convulsive status epilepticus has significant mortality and morbidity. Urgent resective surgery may be of benefit in selected cases where medical therapies have failed. At our institution, from January 1992 until December 2005, urgent resective surgery was performed in three children wit...
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PMID: 18460420
PDF is available here.
PDF is available here.
Pediatric Neurosurgery (45)6 2009
Abstract
The mean intracranial volumes expanded by 10.5% in the DO group 1 month after surgery and by 13.1% in the CO group on the immediate postoperative day. Further expansion was observed 6 months postoperatively, i.e. 10.3 and 4.7% in the DO and CO groups, respectively. Operation time and anesthesia time...
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PMID: 20110756
PDF is available here.
PDF is available here.
Abstract
We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the or...
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PMID: 19700879
PDF is available here.
PDF is available here.
Revista de Neurologia (48)1 2009
Abstract
The diagnostic and therapeutic protocol for all paroxysmal phenomena in emergencies consists of three successive phases: diagnosis of the cause of the epilepsy, integration of the significance of the seizure within the clinical context, and designing the therapeutic scheme. Each phase will depend on...
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PMID: 19145565
PDF is available here.
PDF is available here.
Journal of Pediatric Surgery (43)12 2008
Abstract
Fifty-three cases of omphalocele were observed. Twenty-seven cases were classified as small, with 26 classified as large. A predominance of males was noted in the small omphalocele group (78% vs 42%; P = .01). Intestinal anomalies, including Meckel's diverticulum and intestinal atresia, were only se...
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PMID: 19040938
PDF is available here.
PDF is available here.
Ophthalmology (115)12 2008
Abstract
Ophthalmologists should be aware that saccadic dysfunction (typically with head thrusts) and primary position nystagmus (typically see-saw) in a developmentally delayed child suggest the diagnosis of Joubert syndrome, especially if a dystrophic retinal appearance is also present. Our findings of asy...
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PMID: 19041481
PDF is available here.
PDF is available here.
Abstract
Morning glory disk anomaly (MGDA) is a congenital malformation of the optic disk that is usually unilateral. It has characteristic fundus findings, including enlarged optic disk opening and funnel-shaped excavation of the peripapillary fundus. Optical coherence tomography (OCT) with micrometer resol...
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PMID: 18823805
PDF is available here.
PDF is available here.
Journal of Neuroscience (28)49 2008
Abstract
We have previously reported that mGluR5 signaling via PLC-beta1 regulates the development of whisker patterns within S1 (barrel) cortex of mice (Hannan et al., 2001). However, whether these defects arise from the loss of postsynaptic mGluR5 signaling, and whether the level of mGluR5 is important for...
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PMID: 19052194
PDF is available here.
PDF is available here.
Abstract
We show that miR-124a, a nervous-system-specific miRNA, is associated with the Drosophila homolog of FMRP (dFMR1) in vivo. Ectopic expression of wild-type but not mutant miR-124a precursors decreased dendritic branching of dendritic arborization sensory neurons, which was partially rescued by the lo...
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PMID: 19005053
PDF is available here.
PDF is available here.
Journal of Neuroscience (28)46 2008
Abstract
We discuss the role of cytoskeleton, motor proteins, and mechanisms of nuclear translocation in radial and tangential migration of neurons. We will also discuss how these and other events essential for normal migration of neurons can be disrupted by genetic and environmental factors that contribute...
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PMID: 19005035
PDF is available here.
PDF is available here.
Bosnian journal of basic medical sciences / Udruzenje basicnih mediciniskih znanosti = Association of Basic Medical Sciences (8)4 2008
Abstract
Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. The aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department, Neonatal In...
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PMID: 19125708
PDF is available here.
PDF is available here.
Abstract
The toxic effect of non-steroidal anti-inflammatory drugs (NSAIDs) during development has been widely investigated. While it has been shown that these drugs impair central nervous development and compromise the neural activity, the effects of these substances on the development of peripheral nerves...
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PMID: 18678241
PDF is available here.
PDF is available here.
Abstract
We investigated whether knockout of Fmr1 in the mouse model of fragile X altered dendrite morphology in developing spinal cord motor neurons. We find that Fmr1 knockout leads to modest alterations in the distribution of dendritic arbor across the span of the motor neuron dendritic tree in 2- and 4-w...
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PMID: 18638539
PDF is available here.
PDF is available here.
Annals of Neurology (64)5 2008
Abstract
Brain magnetic resonance images were normal in 3 of 27 patients; in another 5, only nonspecific abnormalities (ventricular dilatation, periventricular white matter abnormalities, or both) were seen. The remaining 19 patients had a spectrum of structural defects, ranging from complete lissencephaly i...
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PMID: 19067344
PDF is available here.
PDF is available here.
Abstract
We attempted to identify the strengths and weaknesses of each modality from the literature, and to arrive at some practical recommendations on when to use which imaging modality. In conclusion, combining neurosonography and MRI is mostly redundant, but occasionally complementary. Both are operator d...
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PMID: 18928578
PDF is available here.
PDF is available here.
Abstract
Intraspinal neurenteric cysts in children are rare and most occur ventral to the spinal cord. Magnetic resonance imaging (MRI) is the most effective imaging modality. Earlier diagnosis and surgical resection of spinal neurenteric cysts improves prognosis....
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PMID: 19235445
PDF is available here.
PDF is available here.
Neurochirurgie (54)5 2008
Abstract
The diagnosis of lumbosacral dysraphism is now made during the first year of life. Although problems due to filum lipomas are solved when the patient becomes an adult, the lipomas of the lumbar spinal cord can induce late complications. It is therefore necessary to organize a neurological, urologica...
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PMID: 18809185
PDF is available here.
PDF is available here.
Neurochirurgie (54)5 2008
Abstract
Craniovertebral malformations are infrequent in children. Their causes are numerous (Chiari, congenital bone diseases, metabolic diseases, and genetic anomalies). When symptomatic (seldom), these malformations require surgical decompression and fixation. Progress in therapy probably will postpone th...
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PMID: 18804821
PDF is available here.
PDF is available here.
Brain Research (1224) 2008
Abstract
We analyzed projections of the trigeminal sensory system to the red nucleus in 3, 6, and 12 month old dystrophin-deficient mdx mice. The retrograde tracer fluorogold was injected in the magnocellular part of the red nucleus, and the number of labeled neurons in the oral part of the spinal trigeminal...
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PMID: 18603229
PDF is available here.
PDF is available here.
Journal of Neuroscience (28)32 2008
Abstract
Fear extinction is a form of new learning that results in the inhibition of conditioned fear. Trait deficits in fear extinction are a risk factor for anxiety disorders. There are few examples of naturally occurring animal models of impaired extinction. The present study compared fear extinction in a...
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PMID: 18685032
PDF is available here.
PDF is available here.
Abstract
We classify the commonly encountered macrocephaly disorders into useful categories and summarize recent genetic advances. Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided. Some...
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PMID: 18629877
PDF is available here.
PDF is available here.
Abstract
Three to seven days after ultrasound, an MRI of all 26 fetuses without sedation was performed (26.6 +/- 4.0 GW). One healthy twin was not included in this study. MRI confirmed the ultrasonographic diagnosis in 7 cases. Compared to ultrasound, an additional pathology could be detected by MRI in 8 cas...
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PMID: 18484515
PDF is available here.
PDF is available here.
Human Genetics (124)1 2008
Abstract
We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci. The human cytogenetic database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberration...
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PMID: 18563447
PDF is available here.
PDF is available here.
Journal of Neuroscience (28)27 2008
Abstract
We studied the regulation of type III Nrg1 expression and evaluated the effect of decreased expression of the type III Nrg1 isoforms. Type III Nrg1 is transcribed by a promoter distinct from those for other Nrg1 isoforms and, in the adult brain, is expressed in the medial prefrontal cortex, ventral...
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PMID: 18596162
PDF is available here.
PDF is available here.
Seminars in Neurology (28)3 2008
Abstract
We review the practical approach and diagnostic relevance of current seizure and epilepsy classification concepts and principles as a basic framework for good management of patients with epileptic seizures and epilepsy. Inaccurate generalizations about terminology, diagnosis, and treatment may be th...
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PMID: 18777474
PDF is available here.
PDF is available here.
Neuroscience Letters (438)1 2008
Abstract
MR images were used to look for brain structure irregularities in adolescent children with dyslexia by use of combined grey and white matter volume measurements and fractal dimension (FD) of the grey-white matter border. The data were collected from 13 dyslexic adolescent (8 boys and 5 girls) that w...
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PMID: 18456405
PDF is available here.
PDF is available here.
Abstract
The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as he...
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PMID: 18082431
PDF is available here.
PDF is available here.
Journal of Neurology (255)6 2008
Abstract
Review of the literature of pituitary gland duplication and of the combination of morning glory disc anomaly and moya moya disease revealed only one previously reported case. However, the spectrum of this possibly syndromic presentation may be much broader and include various types of anterior midli...
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PMID: 18350354
PDF is available here.
PDF is available here.