Results 51 to 60 of about 1,700 (192)

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia [PDF]

, 2021
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 ...
Al-Hashel, Jasem Y., Armstrong-Javors, Amy, Ballon, Katleen, Brooks, Stephanie, Burglen, Lydie, Bustos, Bernabe, Calame, Daniel G., Carroll, Christopher J., De Luca, Chiara, Efthymiou, Stephanie, Gonzalez-Latapi, Paulina, Graham, Brett H., Gu, Shen, Hackenberg, Annette, Hernandez, Alejandro, Hickey, Scott E., High, Frances A., Houlden, Henry, Hunter, Jill, Isohanni, Pirjo, Joset, Pascal, Kamel, Walaa A., Krainc, Dimitri, Lubbe, Steven J., Lupski, James R., Maqbool, Shazia, Marafi, Dana, Maroofian, Reza, Mencacci, Niccolo E., Meng, Linyan, Mitani, Tadahiro, Pehlivan, Davut, Posey, Jennifer E., Qebibo, Leila, Rahman, Fatima, Rauch, Anita, Ravelli, Claudia, Saadi, Nebal W., Sahin, Yavuz, Shao, Yunru, Steindl, Katharina, Suomalainen, Anu, Van Esch, Hilde, Wangler, Michael F., Yang, Yaping   +44 more
core   +2 more sources

Efficacy and Safety of a Defined Two‐Dose Protocol of Autologous Platelet‐Rich Plasma (PRP) Injection for Refractory Chronic Non‐Healing Wounds: A Prospective Clinical Study

International Wound Journal, Volume 23, Issue 5, May 2026.
ABSTRACT Chronic non‐healing wounds represent a major global public health challenge. Their persistence is frequently attributed to localized biological deficits that cause them unresponsive to conventional therapeutic modalities. While Platelet‐Rich Plasma (PRP) has demonstrated promising results as an adjunctive treatment by delivering highly ...
Nathathai Wanchutrirat, Kamonwan Jenwitheesuk, Kriangsak Jenwitheesuk, Wiyada Punjaruk, Palakorn Surakunprapha, Kengkart Winaikosol, Pattama Punyawong, Pimthawan Vachirodom, Kaweesak Saothonglang, Weerin Sawangkajohn, Thitinan Kasetthat   +10 more
wiley   +1 more source

Reconstruction of midface defect from idiopathic destructive process using Medpor implant [PDF]

, 2017
Importance Reconstruction of the midface remains a challenging task for even the most experienced surgeon, with a host of reconstructive options including free tissue transfer, allografts, or prosthetic implants. Presented here is a case of idiopathic
Franko, Joel, Harris, Michael S., Shipchandler, Taha Z., Vernon, Dominic   +3 more
core   +1 more source

Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework

Diagnostics
Background and Clinical Significance: Parry–Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare disorder characterized by progressive unilateral hemifacial atrophy, with potential involvement of the cranial bones and the brain.
Cristian Turlea, Andrei I. Cucu, Alexandru Carauleanu, Roxana Covali, Camelia Tamas, Mihnea A. Popa, Victor Constantinescu, Anca P. Morosan, Elena Porumb-Andrese, Iulian Prutianu, Claudia F. Costea, Amelian Bobu, Adriana Hristea, Alexandru Nemtoi   +13 more
doaj   +1 more source

Orofacial myofunctional characterization in Parry-Romberg syndrome [PDF]

, 2015
Objetivo: Caracterizar os aspectos miofuncionais orofaciais de pacientes acometidos pela síndrome de Parry-Romberg, por meio de protocolos clínicos padronizados e da Eletromiografia de Superfície (EMGs) dos músculos mastigatórios.
Andrade, Claudia Regina Furquim de, Mangilli, Laura Davison, Rocha, Bruna Rainho, Sassi, Fernanda Chiarion   +3 more
core   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Computer Vision Technologies in Movement Disorders: A Systematic Review

Movement Disorders Clinical Practice, Volume 12, Issue 9, Page 1229-1243, September 2025.
Abstract Background Evaluation of movement disorders primarily relies on phenomenology. Despite refinements in diagnostic criteria, the accuracy remains suboptimal. Such a gap may be bridged by machine learning and video technology, which permit objective, quantitative, non‐invasive motor analysis.
Pasquale Maria Pecoraro, Luca Marsili, Alberto J. Espay, Matteo Bologna, Lazzaro di Biase   +4 more
wiley   +1 more source

Facial contouring with parascapular free flap: A case series of 22 cases

Indian Journal of Plastic Surgery, 2013
Background: The facial asymmetry correction in complex craniofacial malformations presents a challenging problem for reconstructive surgeons. Progressive hemifacial atrophy (HFA) and hemifacial microsomia (HFM) can manifest in different grades of ...
Guru Dayal Singh Kalra, Ram Krishna Gupta   +1 more
doaj   +1 more source

Clinical and therapeutic course in head variants of linear morphea in adults: a retrospective review. [PDF]

, 2022
Parry Romberg Syndrome (PRS) and en coup de sabre (ECDS) are head variants of linear morphea with functional and structural implications. This study describes the clinical course, autoimmune co-morbidities, complications, and treatment of adults with PRS/
Fan, Winnie, Gandelman, Jocelyn, Haemel, Anna, Jacobson, Rebecca, Obiakor, Bianca   +4 more
core   +1 more source

Investigating the Mechanism of Conditioning Versus Postoperative Electrical Stimulation to Enhance Nerve Regeneration: One Therapy, Two Distinct Effects

Muscle &Nerve, Volume 72, Issue 1, Page 15-33, July 2025.
ABSTRACT Regeneration after peripheral nerve injury is often insufficient for functional recovery. Postoperative electrical stimulation (PES) following injury and repair significantly improves clinical outcomes; recently, conditioning electrical stimulation (CES), delivered before nerve injury, has been introduced as a candidate for clinical ...
Paige B. Hardy, Bonnie Y. Wang, K. Ming Chan, Christine A. Webber, Jenna‐Lynn B. Senger   +4 more
wiley   +1 more source