Results 51 to 60 of about 75,837 (152)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Differences in Pes Planus and Pes Cavus subtalar eversion/inversion before and after prolonged running, using a two-dimensional digital analysis

, 2017
In sports, there is a constant discussion about the hyper-pronation and supination of the foot during loading and its relation to injuries or dis-comfort. The purpose of the present study was to investigate the possi-ble differences in the subtalar joint
Charlotte Sinclair, Sjöström, Rita, Sjöström, Rita,, Rita Sjöström, Svantesson, Ulla,, Sinclair, C., Alricsson, Marie, Svantesson, Ulla, Sinclair, Charlotte,, Alricsson, M., Sinclair, Charlotta, Sinclair, Charlotta,, Marie Alricsson, Ulla Svantesson, Alricsson, Marie,, Sjöström, R.   +15 more
core   +1 more source

Endoscopic Calcaneoplasty Achieves Excellent Functional Outcomes in Haglund's Deformity

Arthroscopy, Sports Medicine, and Rehabilitation, Volume 8, Issue 5, October 2026.
Purpose To evaluate the functional outcomes of endoscopic calcaneoplasty for patients with Haglund's deformity who are recalcitrant to conservative management and to assess complication rates and the proportion of patients achieving minimal clinically important difference in functional outcome scores.
Samuel Sing Li Ong, Raj Kumar Socklingam, Ing How Moo, Charles Kam King Kon   +3 more
wiley   +1 more source

Are in-shoe pressure characteristics in symptomatic idiopathic pes cavus related to the location of foot pain?

, 2008
People who have extremely high arched feet may be subject to substantial levels of foot pain, despite the lack of obvious pathology. This study sought to investigate the effect of pes cavus on pain intensity and location and on the magnitude and ...
Crosbie, Jack (R17347), Burns, Joshua (R10995), Joshua Burns, Jack Crosbie   +3 more
core   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, Volume 41, Issue 10, Page 2564-2591, October 2026.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

Pengaruh Penggunaan Medial Arch Support Terhadap Keseimbangan Dinamis Pada Kaki Pes Cavus Pada Orang Tua Lanjut Usia (LANSIA) [PDF]

, 2019
Background: According to The World Health Organization (WHO), in the Southeast Asia the Elderly population is 8% or around 142 million people. Feet function for shock absorber, Generally there are three types of foot structure, namely neutral or normal ...
Fathi, Muhammad, Ningsih, Cica Tri Mandasari, Cica Tri Mandasari Ningsih, Muhammad Fathi   +3 more
core   +1 more source

Static analysis of plantar pressures and kinetic parameters in pes cavus versus normal feet: a case–control study

Frontiers in Physics
BackgroundAt least 10% of the population has cavus feet. This type of foot, characterized by a high medial arch, is usually accompanied by muscle imbalances, calluses, and pain in the hindfoot, lateral column, and forefoot.
Lucía Martínez-Salvador, Helena Silva-Migueis, Ricardo Becerro-de-Bengoa-Vallejo, Marta Losa-Iglesias, Javier Bayod-López, Israel Casado-Hernández, Juan Gómez-Salgado, Juan Gómez-Salgado, Daniel López-López   +8 more
doaj   +1 more source

Beyond Aesthetics: A Matched‐Controlled Study of Static and Dynamic Foot Characteristics of 83 Professional Ballet Dancers

Journal of Foot and Ankle Research, Volume 19, Issue 3, September 2026.
ABSTRACT Background Professional ballet dancers are exposed to substantial repetitive loading of the lower extremities particularly the feet. The aesthetic and technical demands of ballet may lead to morphological adaptations overtime. This study aimed to compare static and dynamic foot characteristics between professional dancers and active controls ...
Tabea Arens, Mareike Sproll, Anja Hauschild, Christoph Kniewasser, Luisa Helfrich, Luisa Kosch, Astrid Zech   +6 more
wiley   +1 more source

Morphology of the Hindfoot in Pes Cavus

Foot & Ankle Orthopaedics, 2016
Category: Hindfoot Introduction/Purpose: The characteristic cavovarus deformity includes an adducted forefoot, an elevated longitudinal arch, and a hindfoot varus.
Timo Schmid MD, Manuel Roth, Steffen Schumann PhD, MSc, Fabian Krause MD   +3 more
doaj   +1 more source