Results 121 to 130 of about 89,859 (308)

DRINet for medical image segmentation [PDF]

, 2018
Convolutional neural networks (CNNs) have revolutionized medical image analysis over the past few years. The UNet architecture is one of the most well-known CNN architectures for semantic segmentation and has achieved remarkable successes in many ...
Bentley, P, Chen, L, Fujiwara, M, Misawa, K, Mori, K, Rueckert, D   +5 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Curative effect analysis of minimally invasive puncture external ventricular drainage combined with early lumbar drainage in the treatment of intraventricular hemorrhage

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
This paper aims to evaluate the effect of minimally invasive puncture external ventricular drainage (EVD) combined with early lumbar drainage (LD) for clearance of hematoma in the third and fourh ventricles in patients with intraventricular hemorrhage
Jian YU, Ting-zhong WANG, Fei GAO, Liang WANG, Xian-lin ZHAO   +4 more
doaj  

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause of Movement Disorder

Caspian Journal of Neurological Sciences, 2016
We report a rare genetic disorder case of neuroacanthocytosis with clinical profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated ...
Ali Ghabeli-Juibary, Fariborz Rezaeitalab   +1 more
doaj  

Chinese expert consensus on the management of hydraulic-coupled intracranial pressure monitoring via external ventricular drainage

Chinese Journal of Contemporary Neurology and Neurosurgery
Intracranial pressure (ICP) monitoring serves as a critical component in the management of neurocritical care patients. Hydraulic-coupled intracranial pressure monitoring via external ventricular drainage (EVD-ICP) monitoring offers a clinically ...
Chinese Neurosurgical Intensive Care Management Collaborative Group, Minimally Invasive and Non-Invasive Professional Committee of Chinese Research Hospital Association, Neurosurgery Branch of the He'nan Medical Doctor Association, Neurosurgery Professional Committee of He'nan Medical Science Popularization Society   +3 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Finite Element Analysis of Normal Pressure Hydrocephalus: Influence of CSF Content and Anisotropy in Permeability

Applied Bionics and Biomechanics, 2010
Hydrocephalus is a cerebral disease where brain ventricles enlarge and compress the brain parenchyma towards the skull leading to symptoms like dementia, walking disorder and incontinence. The origin of normal pressure hydrocephalus is still obscure.
K. Shahim, J.-M. Drezet, J.-F. Molinari, R. Sinkus, S. Momjian   +4 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source