Results 71 to 80 of about 508,254 (320)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Limb Body Wall Complex: First Trimester Ultrasonographic Diagnosis of a Case with Exencephaly and Megacystis

Gynecology Obstetrics & Reproductive Medicine, 2015
Limb Body Wall Complex (LBWC) is a rare developmental anomaly which is classified together with midline defects. Despite the anomaly arises from an error occuring during the embryonic folding, the exact pathophysiological mechanisms are poorly understood.
Mert Turğal, Aslıhan Yazıcıoğlu, Özgür Özyüncü, M. Sinan Beksaç   +3 more
doaj  

Treatment of Complex Multiple Lesions in the Knee With MACI (Autologous Cultured Chondrocytes on Porcine Collagen Membrane)

Video Journal of Sports Medicine
Background: Multiple chondral lesions in the knee are difficult to manage. A few treatment options are available. Considering the number of lesions, size, location, and total surface area, the autologous cultured chondrocytes on porcine collagen membrane
Wayne Gersoff MD
doaj   +1 more source

Digital Technology Used In Rehabilitation Of Maxillary Defects

International Dental Journal
Aim or purpose: To explore the course for a digital maxillofacial prosthesis system, aiming to improve clinical treatment for patients with maxillary defects. Materials and methods: The patient with maxillary defects were selected from clinic.
Xiaoyu Gu, Siyi Wang
doaj   +1 more source

“It’s Just Not Right”: The Ethics of Insider Trading [PDF]

, 1993
The Supreme Court doctrine defining insider trading and a competing theory called the misappropriation theory are criticized, focusing on the case of United States vs Chestman.
Scheppele, Kim Lane
core   +1 more source

Detection of Single Nucleotide Polymorphism Rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate [PDF]

, 2019
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of ...
Shehzad, H. (Husnain), Shehzad, O. (Osheen)   +1 more
core   +2 more sources

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Exposure to polychlorinated biphenyls and hexachlorobenzene, semen quality and testicular cancer risk [PDF]

, 2015
PURPOSE: We carried out a case-control study to investigate the possible role of occupational and environmental exposure to endocrine disruptors in the onset of testicular cancer (TC). METHODS: We evaluated 125 TC patients and 103 controls.
CATTARUZZA, Maria Sofia, F. Giannandrea, GANDINI, Loredana, LENZI, Andrea, LOMBARDO, Francesco, M. Gallo, PAOLI, Donatella, R. Turci   +7 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

The Iowa Perinatal Letter, April-May-June 2007, Vol. 28, no.2 [PDF]

, 2007
This newsletter from The Department of Public Health about perinatal health care and ...

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