Results 51 to 60 of about 108,580 (297)

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Finger island flaps for treatment of dermato-desmogenic flexion contractures of proximal interphalangeal joints

Aktualʹnì Pitannâ Farmacevtičnoï ì Medičnoï Nauki ta Praktiki, 2016
Soft tissue defect will form after operative treatment of the dermato-desmogenic flexion contractures of fingers interphalangeal joints of the 2–3 grades after excision of the scar.
T. S. Antonova , D. V. Іvchenko
doaj   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Biomechanical Evaluation of Fingers Repetitive Voluntary Tasks in Chronic Stroke Survivors

IEEE Access, 2023
A chronic stroke affects hand mobility limiting the normal functioning of the finger joints. The voluntary tasks with a repetitive motion can identify the limitation in the range of motion (ROM) to enhance the hand functioning of stroke survivors ...
Muhammad Adeel, Chih-Wei Peng, I-Jung Lee, Bor-Shing Lin   +3 more
doaj   +1 more source

Limited finger joint mobility in diabetes [PDF]

Archives of Disease in Childhood, 1982
Limited finger joint mobility was assessed in 112 diabetic children, in their first-degree relatives, and in 50 unrelated non-diabetic children. In 42% of the diabetic children there was limited joint mobility, but 14% of them had more severe involvement. Limited joint mobility was correlated with increasing age, early presentation, and longer duration
J E, Brice, D I, Johnston, J L, Noronha
openaire   +2 more sources

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Registration of finger implants in the Dutch arthroplasty registry (LROI)

JPRAS Open
SUMMARY: Finger arthroplasty is commonly used to treat pain in the finger joints due to osteoarthritis or rheumatoid arthritis. Despite the procedure having existed for a relatively long time, it is still unknown which characteristics influence implant ...
Esther van Santbrink, Antonius A. van den Hurk, Anneke Spekenbrink-Spooren, Juliette E. Hommes, Rutger M. Schols, Xavier H.A. Keuter   +5 more
doaj   +1 more source

Validation and application of a computational model for wrist and hand movements using surface markers [PDF]

, 2008
A kinematic model is presented based on surface marker placement generating wrist, metacarpal arch, fingers and thumb movements. Standard calculations are used throughout the model and then applied to the specified marker placement.
Burridge, J.H., Chappell, P.H., Metcalf, C.D., Notley, S.V., Yule, V.T.   +4 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source