Results 21 to 30 of about 106,981 (266)

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

The Architects Collaborative in Cyprus: Archaeo-Tourism and Landscape Configurations 

Architectural Histories
The Amathus Beach Hotel was the first project for The Architects Collaborative in Cyprus, which it undertook in collaboration with local Greek Cypriot architectural firm Colakides & Associates. Completed in 1973, the project was embarked on at a time
Panayiota Pyla, Savia Palate
doaj   +2 more sources

Double Tongue Flaps for Anterior Huge Palatal Fistula Closure

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Even though it is widely accepted that the tongue flap is effective and feasible for repair of huge palatal fistula, there still exist a few failed cases due to the severity or complicated situation.
Xia Zhou, MD, Lian Ma, PhD
doaj   +1 more source

Minor salivary gland mucoepidermoid carcinoma in an adolescent - A curious clinical presentation

Journal of Indian Academy of Oral Medicine and Radiology, 2020
Salivary gland tumors (SGTs) are classified as benign, malignant epithelial, soft tissue, hematolymphoid or secondary tumors. SGTs commonly affect the parotid gland and among the minor salivary glands, the hard palate is the commonest site as it harbors ...
M S Archana, Anu Babu, Geeta Sharma
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

A Blood‐Derived Double‐Network Hydrogel with Robust Wet Adhesion for Keratinized Mucosa Regeneration via Neutrophil Phenotype Reprogramming and Mechanophysical Niche Modulation

Advanced Science, EarlyView.
The iPRF‐MA/Alg‐NHS/Lut@EGCG (PGAE) double‐network hydrogel achieves durable wet adhesion in the oral environment. It simultaneously reprograms neutrophils from NETosis to phagocytosis for biofilm clearance, and activates the FAK‐RhoA‐YAP mechanotransduction pathway in gingival fibroblasts to drive extracellular matrix remodeling, thereby promoting ...
Sicong Ren, Xinting Yang, Jingxia Chen, Yihan Wang, Jian Feng, Jing Zhou, Jiaxin Luo, Jingjie Zhai, Quan Lin, Yanmin Zhou   +9 more
wiley   +1 more source

QRICH1 Disrupts Endoplasmic Reticulum Homeostasis and Amplifies NF‐κB Signaling in Periodontal Ligament Stem Cells to Exacerbate Diabetic Periodontitis

Advanced Science, EarlyView.
QRICH1 has been established as a key factor contributing to impaired osteogenic potential and accelerated apoptosis of PDLSCs in diabetic periodontitis. QRICH1 not only significantly enhances UPR‐associated apoptotic signaling but also amplifies NF‐κB‐mediated inflammatory responses. Its inhibition restores osteogenic capacity and reduces alveolar bone
Han Li, Xiaoyu Yang, He Wang, Yunchun Kuang, Yiyao Hu, Houxuan Li, Shuhong Li, Deping Zeng, Jie Li, Jinlin Song   +9 more
wiley   +1 more source

Colgajos faríngeos personalizados según los hallazgos de la videofluoroscopia ambulatoria y la videonasofaringoscopia en quirófano. Resultados preliminaries

Anales Médicos
Antecedentes: El colgajo faríngeo (PF) es el procedimiento más común para corregir el VPI residual en pacientes con fisura palatina previamente reparada.
Kongkrit Chaiyasate, Matthew Rontal, Prasad Thottam, Kenneth Shaheen, Cheryl L. Lozon, Pablo A. Ysunza   +5 more
doaj   +1 more source

Oro-facial clefts at a tertiary level hospital of eastern Nepal: A retrospective insight

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Introduction: There are only a few centers providing care to orofacial cleft patients across Nepal. However, no adequate data have been reported regarding the epidemiology, pattern, and association of cleft in children from eastern Nepal.
Mehul R Jaisani, Ashok Dongol, Pradeep Acharya, Anjani Kumar Yadav, Alok Sagtani, Leeza Pradhan, Pallavi Vyas Jaisani, Sean Laverick   +7 more
doaj   +1 more source

From Flexible to Conformable Pressure Sensors: Mechanisms, Materials, and Biomedical Applications

Advanced Electronic Materials, EarlyView.
This review highlights recent progress, challenges and future opportunities in pressure sensing for advanced biomedical applications. We summarize key transduction mechanisms and emerging material strategies, discuss representative wearable and implantable applications for continuous physiological monitoring and provide a focused perspective on barrier
Rishabh B. Mishra, Andrea Ottomaniello, Virgilio Mattoli   +2 more
wiley   +1 more source