Results 51 to 60 of about 2,214,124 (236)

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Griese, Matthias, de Blic, Jacques, Bahuau, Michael, Tredano, Mohammed, Fournet, Jean-Christophe, Elion, Jacques   +5 more
core   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Subclinical cardiac alterations and cardiometabolic profile in adolescents with newly diagnosed polycystic ovary syndrome: A cross‐sectional comparative echocardiographic study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective While cardiometabolic comorbidities have been well established in adults with polycystic ovary syndrome (PCOS), it remains unclear whether the early signs of cardiovascular morbidity emerge during adolescence. This study aimed to investigate whether metabolic and cardiovascular alterations begin in adolescents with PCOS.
Demet Aygün Ari, Melis Pehlivantürk Kizilkan, Musa Öztürk, İlker Ertuğrul, Hayrettin Hakan Aykan, Tevfik Karagöz, Nuray Kanbur, Orhan Derman, Sinem Akgül   +8 more
wiley   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

, 2019
The laboratory diagnosis of inborn errors of metabolism has been revolutionized in recent years, thanks to the amazing developments in the field of DNA sequencing including whole exome and whole genome sequencing (WES and WGS).
Waterham, Hans R., Wanders, Ronald J. A., Kemp, Stephan, van Kuilenburg, André B. P., Houtkooper, Riekelt H., Vaz, Frederic M., van Karnebeek, Clara D., Ferdinandusse, Sacha   +7 more
core   +1 more source

Update on Neuropathies in Inborn Errors of Metabolism

, 2021
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk, Natalia Będkowska, Ewelina Mendela, Justyna Paprocka   +3 more
core   +1 more source

Association Between MRI‐Derived Right‐to‐Left Ventricular Volume Ratio and Regional Left Ventricular Myocardial Dysfunction in Patients With Pulmonary Arterial Hypertension

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Right ventricular (RV) to left ventricular (LV) end‐diastolic volume ratio (RV/LV) is a validated marker of RV dilation in pulmonary arterial hypertension (PAH), yet its impact on LV myocardial function and the underlying mediating pathway is incompletely characterized.
Han Fang, Yuan Li, Jin Wang, Wei‐Feng Yan, Ke Shi, Shi‐Qin Yu, Xue Li, Wen‐Rong Li, Jia‐Ke Li, Jing‐Yi Guo, Li Jiang, Zhi‐Gang Yang   +11 more
wiley   +1 more source

Associations between intake of vitamins E and A and serum concentrations in preterm infants: A retrospective cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Infants in neonatal intensive care are at risk of both deficiency and excess of fat‐soluble vitamins, particularly E and A, due to limited reserves and the need for prolonged intravenous nutrition. We aimed to determine the effects of increased intravenous vitamin intake and to characterise the relationships between vitamin intake ...
A. Bronnert, L. Kremer, JE Harding, FH Bloomfield, B. E. Cormack   +4 more
wiley   +1 more source

CoA synthase plays a critical role in neurodevelopment and neurodegeneration

Frontiers in Cellular Neuroscience
Coenzyme A (CoA), which is widely distributed and vital for cellular metabolism, is a critical molecule essential in both synthesizing and breaking down key energy sources in the body.
Chiara Cavestro, Marco D’Amato, Maria Nicol Colombo, Floriana Cascone, Andrea Stefano Moro, Sonia Levi, Sonia Levi, Valeria Tiranti, Ivano Di Meo   +8 more
doaj   +1 more source

Clinical Spectrum of Inborn Errors of Metabolism in Children in a Tertiary Care Hospital [PDF]

, 2020
INTRODUCTION: Inborn errors of metabolism are the hereditary diseases which occurs due to disturbances in normal biochemical process. Although individual diseases are rare, they collectively cause significant amount of morbidity and mortality.
Jayashree, K R
core