Results 71 to 80 of about 38,591 (268)

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration

Advanced Healthcare Materials, EarlyView.
This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli, Deepak Gupta, Yogendra Pratap Singh, Pallab Datta, Muhammad Rizwan, Mehmet Baykara, Ibrahim T. Ozbolat   +6 more
wiley   +1 more source

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Medicina, 2019
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia   +10 more
doaj   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Probiotic‐Based Materials as Living Therapeutics

Advanced Materials, EarlyView.
Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio, Graham J. Day, Manuel Salmeron‐Sanchez   +2 more
wiley   +1 more source

Evaluating the Role of Genetic Testing for Inborn Errors of Immunity in Pediatric Patients with Very Early-Onset and Early-Onset Inflammatory Bowel Disease

Journal of Human Immunity
Introduction The incidence of inflammatory bowel disease (IBD) has significantly increased in developing countries over the last decade with a rising prevalence among the pediatric population. Very early-onset IBD (VEOIBD), defined as IBD in children younger than 6 years, requires a comprehensive diagnostic approach
Sarah Afzal, Elisabeth Hoyte, Rachel Bensen, David Lewis, Alka Goyal, Yael Gernez   +5 more
openaire   +1 more source

Excessive DNA Double‐Strand Breaks–Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency

Advanced Science, EarlyView.
Neural tube defects (NTDs) are among the most common congenital malformations. However, the underlying etiology and mechanism remain elusive. Here, the role of DNA double‐strand breaks (DSBs) in 3D genome organization within the NTDs with folate deficiency is reported.
Ting Zhang, Lin Lin, Jianting Li, Caihua Li, Shengjun Liang, Xuemei Bai, Fang Wang, Yihua Bao, Dan Guo, Xiaochen Bo, Hao Li, Hebing Chen, Qiu Xie   +12 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, EarlyView.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 more
wiley   +1 more source

Integrated ‘Shield‐Spear’ Biological Patch for Fibrosis‐Free Bladder Reconstruction

Advanced Science, EarlyView.
Fibrosis‐free bladder reconstruction remains challenging. This study pioneers an integrated “shield‐spear” patch: The outer anionic hydrogel layer captures GATA6+ macrophages to suppress collagen overexpression, while the inner S100 aptamer‐engineered EVs target Schwann cells to downregulate the TGFβ/Smad pathway—inhibiting fibrosis with enhanced wound
Xiaoqi Wu, Huitong Ruan, Xiaolin Zhang, Weihan Zheng, Muhetaierjiang Mutailifu, Ling Wang, Liu Yu, Ruijun Peng, Rui Zhao, Zihan Wang, Jie Xu, Shaochuan Li, Yaobin Wu, Wenguo Cui, Mujun Lu   +14 more
wiley   +1 more source