Results 51 to 60 of about 2,546 (143)

Current Strategies and Future Prospects of Achondroplasia Treatment : A Systemic Review

Journal of Education, Health and Sport
Introduction and Purpose: Achondroplasia, the most common form of dwarfism, results from mutations in the FGFR3 gene. The disorder causes disproportionate short stature due to a gain-of-function mutation in FGFR3, impacting bone growth.
Daria Bednarczyk, Wiktoria Pysiewicz, Wiktor Garbarczyk, Agnieszka Napieralska, Albert Kapla, Michalina Jurkiewicz, Julia Białeta, Katarzyna Rowińska, Karolina Siembab, Alicja Černohorská   +9 more
doaj   +1 more source

Association of Plaque Characteristics With New Ischemic Lesions After Carotid Artery Stenting

CNS Neuroscience &Therapeutics, Volume 31, Issue 3, March 2025.
Carotid PET/MR‐related indicators (high PET uptake, high SCAIL scores, AHA VI type plaques) can effectively predict the risk of new ischemic lesions after carotid artery stenting, aiding in the early identification of high‐risk patients for recurrent ischemic stroke.
Senhao Zhang, Mengmeng Feng, Fan Yu, Xin Meng, Yue Zhang, Bixiao Cui, Tao Wang, Weizhao Lu, Hongwei Yang, Shaozhen Yan, Jie Lu   +10 more
wiley   +1 more source

A Rare Cause of Obstructive Chronic Hydrocephalus in an Adult Patient: A Case Report of Fourth Ventricle\'s Foramina Idiopathic Stenosis

Iranian Journal of Neurosurgery, 2015
Background & Importance: Idiopathic stenosis of the foramina of Magendie and Luschka is a rare cause of obstructive hydrocephalus involving the fourth ventricle.
Ibrahima Tine, Abdou A. Diop, Ababacar Mbengue, Abdou K. Wimenga, Paterne S. Mudekereza, Seydou B. Badiane   +5 more
doaj  

Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia

The Journal of Clinical Investigation
Achondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3).
Marco Angelozzi, Arnaud Molin, Anirudha Karvande, Ángela Fernández-Iglesias, Samantha Whipple, Andrew M. Bloh, Véronique Lefebvre   +6 more
doaj   +1 more source

4th ventricular entrapment as a surgical entity: Case report with review of the literature discussing different treatment modalities

Interdisciplinary Neurosurgery
Introduction: Entrapped fourth ventricle (EFV) is a rare entity that has been reported previously as double compartment hydrocephalus, isolated fourth ventricle, encysted fourth ventricle, and trapped fourth ventricle.
Ali Amine, Sarah Kawtharani, Mohamad El Housheimy, Wael Shouman, Firas Rammal, Joelle Hassanieh   +5 more
doaj   +1 more source

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences

Orphanet Journal of Rare Diseases
Background Achondroplasia is the most common form of disproportionate short stature and can lead to serious medical complications, including foramen magnum and spinal stenosis.
Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, Valentina Camurri, Michaela Veronika Gonfiantini, Chiara Leoni, Milena Mariani, Osvaldo Palmacci, Matteo Porro, Simone Riganti, Caterina Tedesco, Berardo Rinaldi, Emanuela Scarano, Concetta Schiavariello, Angelo Selicorni, Stefano Stagi, Fabio Verdoni, Giuseppe Zampino, Mohamad Maghnie, Roberta Onesimo   +19 more
doaj   +1 more source

The Awake Resting Breathing and Thoraco‐Abdominal Pattern In Children With Achondroplasia: A Pilot Cross‐Sectional Study

Health Science Reports, Volume 8, Issue 4, April 2025.
Antonella LoMauro, Gabriella Tringali, Alessandro Sartorio, Marco Sessa, Andrea Aliverti   +4 more
wiley   +1 more source

Foramen Magnum Stenosis and Spinal Cord Compression in Achondroplasia [PDF]

Anesthesiology, 2019
Michale S, Ok, Usha D, Nagaraj, Mohamed, Mahmoud   +2 more
openaire   +2 more sources

Poster Session 2

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Rotatory Vertebral Artery Syndrome in Foramen Magnum Stenosis [PDF]

Research in Vestibular Science, 2018
Ileok Jung, Jin-Man Jung, Moon Ho Park
openaire   +1 more source