Results 91 to 100 of about 8,769 (269)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Surgical Correction of Congenital Planovalgus Foot Deformity in Children

N.N. Priorov Journal of Traumatology and Orthopedics, 2011
During the period from 2002 to 2008 seventeen children with III degree of congenital planovalgus foot deformity (29 feet) were operated on at orthopaedic department of Nizhniy Novgorod Scientific Research Institute of Traumatology and Orthopaedics using new technique of surgical correction. In all cases long term results were assessed within the period
Maksim Valer'evich Vlasov, A B Bogos'yan, N A Tenilin, M V Vlasov, A B Bogos'yan, N A Tenin   +5 more
openaire   +1 more source

Reverse club foot. Rigid and recalcitrant talipes calcaneovalgus

, 1987
We describe a congenital deformity of the foot which is characterised by calcaneus at the ankle and valgus at the subtalar joint; spontaneous improvement does not occur and serial casting results in incomplete or impermanent correction of the ...
MB Menelaus, ER Edwards
core   +1 more source

Complex foot deformity and Illizarov technique: a record-based study

, 2020
Background: Complex foot deformities may occur as a result of trauma, poliomyelitis, osteomyelitis, burn contractures, neuromuscular diseases or may present as a resistant congenital contracture such as clubfoot.
Nayak, Arun K., Takalkar, Anant A., Kumar, Roshan, Kumar S., Naveen, Kulkarni, Anirudh C., Sajan, Alvin   +5 more
core   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Brain–Computer Interfaces: The Dawn of a New Era in Disease Treatment

Exploration, EarlyView.
This study investigates the potential of brain–computer interface (BCI) technology in treating neuropsychiatric disorders, such as movement and communication barriers. Our review examines the history, signal paradigms, and diverse applications of BCI while also discussing ongoing research into novel materials and emerging technologies that offer ...
Yuqi Feng, Wangzheqi Zhang, Jun Chen, Huang Wu, Lei Wu, Yanhao Qiu, Xiaoming Deng, Chenglong Zhu, Yisheng Chen, Zhijie Zhao, Changli Wang, Xiaomin Zhang   +11 more
wiley   +1 more source

MANAGEMENT OF ATYPICAL CLUBFOOT BY PONSETI METHOD

Travmatologiâ i Ortopediâ Rossii, 2016
From May 2006 to August 2009 analyzed 28 clinical observations (34 feet) for children aged from 7 days to 1.5 years with severe atypical congenital clubfoot (Pirani 5,6 points), treated by the method of I. Ponseti.
V. F. Blandinsky, M. A. Vavilov, T. E. Torno, A. V. Donskoy   +3 more
doaj   +1 more source

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients [PDF]

, 2013
Background Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms.
Fujak, Albert, Schilling, Lisa, Forst, Jürgen, Raimund Forst, Forst, Raimund, Lisa Schilling, Albert Fujak, Jürgen Forst   +7 more
core   +1 more source

Dental Rehabilitation of the Scapular Tip in Maxillary Reconstruction

Head &Neck, EarlyView.
ABSTRACT Introduction The fibula‐free flap has traditionally been utilized to perform dental rehabilitation following maxillectomy. The purpose of this study is to present our experience with dental implantation of the scapula–tip‐free flap in midface reconstruction.
Leba M. Sarkis, John Lee, Karl Cuddy, Brian Rittenberg, Majd Al Mardini, Christopher MKL Yao, Sharon Tzelnick, David Goldstein, Ralph Gilbert, John R. de Almeida   +9 more
wiley   +1 more source

Validation of the fullPIERS model for predicting severe maternal outcomes in preeclampsia in five Brazilian centers

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The objective of this study is to validate the fullPIERS (Pre‐eclampsia Integrated Estimate of Risk) prognostic model in a large, multicenter cohort of Brazilian women with preeclampsia and to determine the optimal cutoff for clinical application in the Brazilian context.
Pedro do Valle Teichmann, José Paulo Siqueira Guida, Maria Laura Costa, Leila Katz, Melania Maria Amorim, Jussara Mayrink, Giorgio Tondello, Sergio Hofmeister de Almeida Martins Costa, José Geraldo Lopes Ramos   +8 more
wiley   +1 more source