Results 71 to 80 of about 363,284 (303)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

An isolated double-inlet right ventricular malformation: a case report and review of the literature

Journal of Medical Case Reports
Background Double-inlet right ventricle is an extremely rare and complex cardiac malformation characterized by the opening of both atria into the right ventricle and is usually associated with other major cardiac malformations.
William Borghol, Faisal Alfaksh, Saja Karaja, Lyne Barakat, Saleh Takkem   +4 more
doaj   +1 more source

Right and Left Ventricular Strain Patterns After the Atrial Switch Operation for D-Transposition of the Great Arteries—A Magnetic Resonance Feature Tracking Study

Frontiers in Cardiovascular Medicine, 2019
Introduction: Adult survivors of the atrial switch operation for transposition of the great arteries present with a systemic morphologic right ventricle and a subpulmonary morphologic left ventricle.
Barbara Elisabeth Ursula Burkhardt, Barbara Elisabeth Ursula Burkhardt, Christian Johannes Kellenberger, Christian Johannes Kellenberger, Francesca Daniela Franzoso, Francesca Daniela Franzoso, Julia Geiger, Julia Geiger, Angela Oxenius, Angela Oxenius, Emanuela Regina Valsangiacomo Buechel, Emanuela Regina Valsangiacomo Buechel   +11 more
doaj   +1 more source

An exercise on developing an ontology-epistemology about schizophrenia and neuroanatomy [PDF]

, 2009
This paper describes preliminary ideas on formalizing some concepts of neuroanatomy into ontological and epistemological terms. We envisage the application of this ontology on the assimilation of facts about medical knowledge about neuroimages from ...
Danilo Nunes Santos, Marcos Vinicius dos Santos, Paulo Eduardo Santos, Rodolpho Freire   +3 more
core   +2 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Extraction of epi-cardium contours from unseen images using a shape database [PDF]

, 2004
Accurate segmentation of the myocardium in cardiac magnetic resonance images can be restricted by image noise and low discrimination between the epi-cardium boundary and other organs.
Ghita, Ovidiu, Lynch, Michael, Whelan, Paul F.   +2 more
core   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

A case of isolated right ventricle noncompaction with ST-Elevation chest leads

Heart Views, 2016
Non-compaction of ventricular myocardium (NCVM) is a rare genetic disorder caused by intrauterine arrest of endomyocardial development. Left ventricle is the usual site of NCVM with very rare reports of isolated right ventricular non-compaction (IRVNC ...
Sourabh Aggarwal, Jagadeesh Kalavakunta, Vishal Gupta   +2 more
doaj   +1 more source

Importance of the right ventricle in valvular heart disease [PDF]

, 2017
The importance of the right ventricle as a determinant of clinical symptoms, exercise capacity, peri-operative survival and postoperative outcome has been underestimated for a long time.
Hess, O. M., Nagel, E., Stuber, M.
core  

A parallel interaction potential approach coupled with the immersed boundary method for fully resolved simulations of deformable interfaces and membranes [PDF]

, 2016
In this paper we show and discuss the use of a versatile interaction potential approach coupled with an immersed boundary method to simulate a variety of flows involving deformable bodies.
de Tullio, Marco D, Lohse, Detlef, Meschini, Valentina, Ostilla-Monico, Rodolfo, Querzoli, Giorgio, Spandan, Vamsi, Verzicco, Roberto   +6 more
core   +3 more sources