Results 21 to 30 of about 4,300 (205)

Real‐Time Holographic Feedback via Mixed Reality Sensorized Laryngoscope Training System Enhances Pediatric Intubation Training

Advanced Robotics Research, EarlyView.
We proposed a Mixed Reality Sensorized Laryngoscope Training System to provide real‐time holographic torque feedback during pediatric endotracheal intubation simulation. Visualization formats are evaluated to reduce tracking error and visual demand.
Jiaqi Li, Ryman Hashem, Ningzhe Hou, Perla Maiolino, Louis Halamek, Liang He   +5 more
wiley   +1 more source

Microglia‐Targeted Biomimetic Tetrahedral Framework Nucleic Acid Nanovesicles for Synergistic Treatment of Sepsis‐Associated Encephalopathy

Advanced Science, EarlyView.
Sepsis‐associated encephalopathy (SAE) lacks effective therapies. We developed ME@FDsi, a biomimetic nanodrug using a tetrahedral framework nucleic acid to deliver disulfiram and siTNFα. It crosses the blood‐brain barrier, targets M1 microglia, inhibits pyroptosis and inflammation, and scavenges ROS.
Huimin Shi, Qiuxia Gao, Wenying Wang, Bin Li, Yukun Chen, Zhijun Yao, Yujie Li, Junrui Li, Na Li, Gong Gu, Zhimin Hou, Mengyuan Yang, Ruilin Zhang, Hongju Yang, Yuhui Liao, Hongyi Lei   +15 more
wiley   +1 more source

A Pilot Study Exploring Caregivers’ Experiences Related to the Use of a Smart Toothbrush by Children with Autism Spectrum Disorder

Children
Background: Research on caregivers for children with intellectual disabilities, particularly those with autism spectrum disorder (ASD), has highlighted several obstacles to achieving better oral health. These include challenges with tolerating oral care,
Katherine France, Olivia Urquhart, Eugene Ko, Juliana Gomez, Maria Ryan, Matilde Hernandez, Marta Gabinskiy, Patricia M. Corby, Mark S. Wolff   +8 more
doaj   +1 more source

Mastication‐Induced Electrical Stimulation Activates Prg4+ Chondroprogenitors for Osteoarthritis Therapy

Advanced Science, EarlyView.
This study presents a ″trash‐to‐treasure″ strategy that converts harmful joint overloads into beneficial electrical cues. The biodegradable MagPie, by providing piezoelectrical stimulation and releasing Mg2+ during mastication, exerts synergistic pro‐regenerative and anti‐inflammatory effects on Prg4+ cells via the ECM‐mediated FAK‐PI3K‐Akt axis ...
Shi‐Yang Feng, Jing‐Rong Cheng, Yu Qin, Jie Lei, Chen‐Chen Gao, Hong‐Ying Fu, Li‐Ping Wu, Thanh D. Nguyen, Xu‐Liang Deng, Kai‐Yuan Fu, Yang Liu   +10 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Disabilities and Disparities in Oral Health-Related Quality of Life: A Systematic Review and Meta-Analysis in Saudi Arabia

Medicina
Background and Objectives: In Saudi Arabia, persons with disabilities (PWDs) face considerable oral health challenges, including a higher prevalence of dental caries and gingival inflammation, which adversely affects their oral health-related quality of ...
Faris Yahya I. Asiri, Marc Tennant, Estie Kruger   +2 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source