Results 111 to 120 of about 13,217 (261)

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

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Predicting Vascularized Bone Graft Viability Using 1-Week Postoperative Bone SPECT/CT After Maxillofacial Reconstructive Surgery. [PDF]

Nucl Med Mol Imaging, 2020
Kim H, Lee K, Ha S, Shin E, Ahn KM, Lee JH, Ryu JS.   +6 more
europepmc   +1 more source

Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion, Peta‐Lee Sacks, Lu Hui Png, Ruoxin Hua, Rhea Darbari Kaul, Raquel Alvarado, Christine Choy, Raymond Sacks, Peter Earls, Raewyn G. Campbell, Larry Kalish, Richard J. Harvey   +11 more
wiley   +1 more source

Medial Femoral Condyle Vascularized Bone Graft for Treatment of Midshaft Clavicle Recalcitrant Nonunion With Use of the Transverse Cervical Artery as an Anastomosis. [PDF]

J Am Acad Orthop Surg Glob Res Rev, 2020
Belyea CM, Lansford JL, Golden JB, Shin EH, Gumboc RDL.   +4 more
europepmc   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

Animal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun, Tong Ma, Ran Chen, Lan Shen, Xun Tang, Zhiqiang Shen, Hongbin Zhao   +6 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

Injectable Bone Cements: A Generational Framework for Bioactivity, Porosity, and Mechanobiological Design at the Nanoscale

Advanced NanoBiomed Research, EarlyView.
Key demographic, biological, and material considerations that drive the need for advanced injectable bone cement technologies. Injectable bone cements (IBCs) are widely used in orthopaedic and craniofacial applications due to their minimally invasive delivery and ability to provide early mechanical stabilisation.
Frank Fei, Yogambha Ramaswamy, Young Jung No   +2 more
wiley   +1 more source

Chitosan/Gelatin Hydrogels With Hydroxyapatite/Silver Nanoparticles: A Dual Antimicrobial and Biocompatible Platform for Bone Regeneration

Journal of Applied Polymer Science, EarlyView.
Chitosan/gelatin hydrogels containing hydroxyapatite or hydroxyapatite/silver nanoparticles were developed and evaluated for bone tissue engineering applications, demonstrating biocompatibility and antimicrobial activity. ABSTRACT Bone tissue engineering demands multifunctional biomaterials capable of promoting regeneration while preventing local ...
Elisabeth Assis Martins Machado, Anne Caroline da Silva Rocha, Lívia Rodrigues de Menezes   +2 more
wiley   +1 more source