Results 41 to 50 of about 53,972 (242)

Dual‐Gene Edited Extracellular Vesicles Remodel the Redox Homeostasis to Inhibit Ferroptosis in Intervertebral Disc Degeneration

Advanced Science, EarlyView.
ABSTRACT Intervertebral disc degeneration (IDD) is driven by ferroptosis of nucleus pulposus cells (NPCs) as a core pathological mechanism. Nucleus pulposus progenitor cells (NPPCs), exhibiting stem cell‐like properties, yield extracellular vesicles (PEVs) with high affinity for NPCs and enable targeted phenotypic regulation.
Jing Yan, Yazhou Lin, Shuo Miao, Minghao Chao, Chengbai Dai, Ziwen Hao, Rui Chen, Ming Guan, Bin Pan, Fenglei Gao, Quan Zhou   +10 more
wiley   +1 more source

Effect of the preoperative assessment of the anteroposterior diameters of the spinal canal and dural area on the efficacy of oblique lumbar interbody fusion in patients with lumbar spinal stenosis

Journal of Orthopaedic Surgery and Research, 2023
Objective The purpose of this study was to quantify the degree of lumbar spinal stenosis by assessing the anterior and posterior vertebral canal diameter and dural area, determine the sensitivity of the anterior and posterior spinal canal diameter, dural
Zhe Lu, Aoran Ding, Qingsong Yu, Haidong Wang, Lei Ma   +4 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Correlation between lumbar spinal canal magnetic resonance imaging grading systems and parameters in lumbar spinal canal compromise

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background There is a need to assess how commonly used classification systems of intervertebral disc degeneration reflect the compromise of neural elements.
Amr Abu Elfadle, Carmen Ali Zarad, Ali Ahmed Abou Elmaaty, Bassem F. Abou El-Nagaa, Ahmed Y. Soliman   +4 more
doaj   +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

Editorial Commentary: Are Intercondylar Notch Osteophytes Predictors of Anterior Cruciate Ligament Injuries?

Arthroscopy, EarlyView.
Abstract The cause of anterior cruciate ligament (ACL) tears is multifactorial. Intrinsic and extrinsic factors are known. Particularly, intrinsic factors can be analyzed and used to assess the potential risk of ACL injuries. Anatomical, hormonal, neuromuscular, and biomechanical determinants are described in this context.
Matthias Brockmeyer
wiley   +1 more source

Extracellular Vesicles‐Based Biological Macromolecule Delivery Systems: Biogenesis, Characterization, and Emerging Clinical Applications

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are nanoscale membrane‐bound structures that play a pivotal role in intercellular communication by transporting bioactive molecules, including proteins, lipids, nucleic acids, and organelles, between cells. Originating from the endosomal pathway, EVs reflect the physiological and pathological status of their parent
Emine İncilay Torunoğlu, Zeynep Betül Sarı, Muhammed Emin Sarı, Erdi Can Aytar   +3 more
wiley   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Prevalence of transthyretin cardiac amyloidosis in undifferentiated heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1176-1182, April 2025.
Abstract Aims Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an increasinglyrecognized cause of heart failure with preserved ejection fraction (HFpEF), which may be diagnosed non‐invasively using 99mTc 3,3‐diphosphono‐1,2‐propanodicarboxylic acid (DPD) scintigraphy‐based diagnostic criteria.
L. Healy, G. Giblin, A. Gray, N. Starr, L. Murphy, D. O'Sullivan, E. Kavanagh, C. Howley, C. Tracey, E. Morrin, A. McDaid, A. Clarke, J.O. O'Neill, E. Joyce, M. O'Connell, N. G. Mahon   +15 more
wiley   +1 more source