Results 41 to 50 of about 50,330 (260)

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

Impact of early synchronous lip and palatal repair on speech [PDF]

, 2013
<b><i>Aims:</i></b> The purpose of this study was to describe articulation and resonance characteristics of Ugandan English-speaking children with cleft lip and palate (CLP) after synchronous lip and palatal closure (Sommerlad ...
Bettens, Kim, D'haeseleer, Evelien, De Ley, Sophia, Galiwango, George, Hodges, Andrew, Luyten, Anke, Van Lierde, Kristiane, Vermeersch, Hubert   +7 more
core   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +1 more source

A 20-year experience in unilateral cleft lip repair: From Millard to the triple unilimb Z-plasty technique

Indian Journal of Plastic Surgery, 2016
Background: This study describes a 20-year experience of treating patients with unilateral cleft lip. During this time, various techniques were used including Millard's technique and its modification and two types of geometrically designed procedures ...
Percy Rossell-Perry
doaj   +1 more source

An update on the aetiology of orofacial clefts [PDF]

, 2004
Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft ...
Hägg, U, Wong, FK
core  

Single‐ and Dual‐Atom Configurations in Atomically Dispersed Catalysts for Lithium–Sulfur Batteries

Advanced Functional Materials, EarlyView.
Single‐atom and dual‐atom‐based atomically dispersed catalysts (ADCs) effectively address the shuttle effect and sluggish redox kinetics in Li–S batteries. With nearly 100% atomic utilization and tunable coordination environments, ADCs enhance LiPSs adsorption, lower conversion barriers, and accelerate sulfur redox reactions.
Haoyang Xu, Zhenfeng Li, Yue Fei, Ali Mohammadi, Ge Li   +4 more
wiley   +1 more source

Cleft Lip [PDF]

DeckerMed Plastic Surgery, 2020
Cleft lip is one of the most common congenital anomalies that present to plastic surgeons. Care involves a multidisciplinary approach to address both aesthetic and functional needs. This review covers embryology, epidemiology, classification, and anatomy.
openaire   +2 more sources

Mandible Cleft: Report of a Case and Review of the Literature [PDF]

, 2002
Median cleft of the lower lip and associated structures is a relatively rare condition. We report the case of a patient with mandibular cleft. Unlike other reported cases of similar disorders, there was no cleft of the lower lip. The literature on median
Almeida, Luis Eduardo, Togni, Fabricio, Ulbrich, Lucienne   +2 more
core   +1 more source

Nanotherapies for Atherosclerosis: Targeting, Catalysis, and Energy Transduction

Advanced Healthcare Materials, EarlyView.
Atherosclerosis management is hindered by poor drug targeting and plaque heterogeneity. Nanotechnology overcomes these barriers via three core strategies: (1) target‐engineered nanocarriers that achieve lesion‐specific precision via ligand modification, biomimetic camouflage, stimuli‐responsive release, and self‐propelling nanomotors; (2) catalytic ...
Yuqi Yang, Jingguo Qu, Tonghuan Xiao, Xinyang Han, Michael Tin‐Cheung Ying   +4 more
wiley   +1 more source