Results 131 to 140 of about 557,732 (322)

Comparison of Ankle Proprioception Between Pregnant and Non Pregnant Women [PDF]

, 2011
Pregnant women report falls especially during their third trimester. Physiological changes along with ligament laxity can affect the joint proprioception in this population.
R, Preetha, SM, John
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Midfoot and ankle movement coordination during heel rise is disrupted in people with diabetes and peripheral neuropathy

, 2022
Hyo‐Jung Jeong, Baekdong Cha, Jennifer A. Zellers, Ling Chen, Mary K. Hastings   +4 more
openalex   +2 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Extensor digitorum longus (EDL) to extensor hallucis longus (EHL) tendon transfer for delayed EHL tendon rupture following anterior ankle arthroscopy – Case report

, 2023
Jean-Michel Fallah, Luís Simões de Almeida, João Protásio   +2 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Assessing the AIR classification reliability for estimating pronation of the first metatarsal

BMC Musculoskeletal Disorders
Background Hallux valgus (HV) is a multiplanar deformity and surgical treatment is often guided by two-dimensional radiographic parameters. This study assessed the reliability and accuracy of the AIR classification(The first metatarsal head’s lateral ...
Ning Sun, Xuewen Wang, Xiangyu Xu, Heng Li, Wenjing Li, Xiaofeng Gong, Hui Du, Yong Wu   +7 more
doaj   +1 more source

Cadaveric evaluation of first metatarsophalangeal joint preparation using a 2.0 mm MIS burr

Foot & Ankle Surgery: Techniques, Reports & Cases
Minimally invasive techniques for foot and ankle procedures have gained popularity as an alternative to traditional open techniques, with proposed benefits including earlier weight-bearing, improved cosmesis, and decreased postoperative pain. The current
Steven R. Cooperman, DPM, MBA, AACFAS, Lauren M. Christie, DPM, AACFAS, Chad A. Smith, DPM, AACFAS, Jacob M. Perkins, DPM, AACFAS, Vincent G. Vacketta, DPM, FACFAS, Roberto A. Brandão, DPM, FACFAS   +5 more
doaj   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source