Results 101 to 110 of about 300,320 (248)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Radiological characteristics and injury mechanism of Logsplitter injury: a descriptive and retrospective study

BMC Musculoskeletal Disorders
Background Logsplitter Injury is a type of high-energy ankle fracture dislocation. The mechanism of injury has not been described in detail. A detailed understanding of the radiological features and pathological changes can further guide treatment ...
Jing-Qi Liang, Yan Zhang, Yang Yue, Hui Feng, Pei-Long Liu, Xiao-Jun Liang, Hong-Mou Zhao   +6 more
doaj   +1 more source

Cuboid fracture: surgical treatment, midterm follow-up, and management algorithm

Journal of the Foot & Ankle
Objectives: Describe the epidemiology of cuboid fracture, the mechanisms of injury and associated injuries, the progression to osteoarthritis, and propose a surgical management algorithm.
Fernando Vargas, Leonardo Lagos Sepulveda, Mauricio Parra Henriquez, Christian Urbina Bahamonde, Francisco Bravo Gallardo, Christian Bastias Soto   +5 more
doaj   +1 more source

Total ankle replacement and contralateral ankle arthrodesis in 16 patients from the Swedish Ankle Registry: Self-reported function and satisfaction

, 2016
Both total ankle replacement (TAR) and ankle arthrodesis do show some problems in long-term studies. To choose either of these surgical options is a delicate task.
Henricson, Anders, Fredriksson, Martin, Lund University., Carlsson, Åke,   +3 more
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The Inhibitory Effect of the Active Ingredients in the Bushen Huoxue Formula on the IL-17A Signaling Pathway and Its Alleviating Effect on Osteoarthritis

Journal of Inflammation Research
Xuan Wang,1,* Yunheng Zhang,1,* Xin Chang,1 Xiaodong Wen,1 Feng Tian,1 Hanjie Yu,2 Yi Li1 1Department of Foot and Ankle Surgery, Honghui Hospital, Xi’an Jiaotong University, Xi’an, People’s Republic of China; 2Laboratory for Functional ...
Wang X, Zhang Y, Chang X, Wen X, Tian F, Yu H, Li Y   +6 more
doaj  

The forces of ankle joint structures during ergometer cycling

, 1985
The ankle joint moment, joint compressive force, and Achilles tendon force obtained during ergometer cycling were calculated by using a quartz force-measuring transducer mounted on the pedal.
Svensson, O, Ekholm, J, Ericson, Mats O,, Nisell, R   +3 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source