Results 61 to 70 of about 66,302 (297)

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

Ultrasound-assisted extraction of phytochemicals from green coconut shell: Optimization by integrated artificial neural network and particle swarm technique

Heliyon, 2023
This study employs artificial neural network (ANN) and particle swarm optimization (PSO) to maximize antioxidant and antimicrobial activity from green coconut shells. Phytochemical analysis was carried out on the extract obtained from ultrasound-assisted
Poornima Singh, Vinay Kumar Pandey, Sourav Chakraborty, Kshirod Kumar Dash, Rahul Singh, Ayaz Mukarram shaikh, Kovács Béla   +6 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Emprego da tecnologia supercrítica para a valorização do resíduo de semente de chia (Salvia hispanica) [PDF]

, 2014
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia de Alimentos, Florianópolis, 2014.A chia (Salvia hispanica) é uma planta cultivada nas Américas do Sul e Central, cuja semente é ...
Guindani, Camila
core  

Ultrasound-Assisted Extraction of Total Phenolic Compounds from Inula helenium [PDF]

, 2013
Ultrasound-assisted extraction (UAE) of phenolic compounds from Inula helenium was studied. Effects of ethanol concentration, ultrasonic time, solid-liquid ratio, and number of extractions were investigated.
Chun-Lin Yan, Ya-Ting Tian, Jin Wang, Yong-Ming Zhao, Chun-Yan Guo   +4 more
core   +1 more source

Anthocyanin Extraction from Jaboticaba Skin (Myrciaria cauliflora Berg.) Using Conventional and Non-Conventional Methods

Foods, 2022
This study evaluated the effect of different extraction technologies and conditions in order to obtain jaboticaba skin extracts. Firstly, the skins were extracted by conventional extraction, according to a rotatable central composite design, varying ...
Gabriela Nunes Mattos, Manuela Cristina Pessanha de Araújo Santiago, Ana Carolina Sampaio Doria Chaves, Amauri Rosenthal, Renata Valeriano Tonon, Lourdes Maria Correa Cabral   +5 more
doaj   +1 more source

Ultrasound assisted cyanotoxin extraction for nematode inhibition in soil

Ultrasonics Sonochemistry, 2022
Root-knot nematodes are one of the plant damaging nematodes in agriculture causing a projected annual yield loss of ∼12 % (∼$160 billion) worldwide. Conventional solutions to control these plant-parasitic nematodes involve chemical nematicides. To reduce the use of harmful chemicals, microalgal extracts can be used as greener alternatives for nematode ...
Fatima Haque, Mahendra Thimmanagari, Yi Wai Chiang   +2 more
openaire   +3 more sources

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

The effect of roasting and ultrasound-assisted and conventional extraction systems on bioactive compound properties, fatty acid profile, lipid indices and phenolic constituents of linseed seed and oils

Industrial Crops and Products
Total phenolic amounts of raw linseeds extracted by conventional and ultrasound-assisted extraction systems were established to be between 95.28 (0.min, initial) and 141.61 (30 min) to 112.42 (0.min (initial time)) and 139.36 mgGAE/100 g (60 min ...
Isam A. Mohamed Ahmed, Mehmet Musa Özcan, Nurhan Uslu, Emad Karrar, Fahad Al Juhaimi   +4 more
doaj   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source