Neurol Sci
Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.
Published: August 2019
The aim of this study is to investigate the effects of scapular taping on scapular kinematics by three-dimensional electromagnetic system during shoulder elevation in facioscapulohumeral muscular dystrophy patients. A total of 11 patients with facioscapulohumeral muscular dystrophy were included in the study. Scapular anterior-posterior tilt, upward-downward rotation, and internal-external rotations were evaluated using the three-dimensional electromagnetic system during the elevation of the upper limbs in the scapular plane before and after kinesio taping. For maximum humerothoracic elevation, there were no differences between the patients before and after taping on both dominant (p = 0.72) and non-dominant sides (p = 0.64). For scapular internal rotation, upward rotation, and posterior tilt, there were no differences between patients before and after taping during humerothoracic elevation on both dominant and non-dominant sides (p > 0.05). These results showed us that the excessive and abnormal movements of the scapula observed during the humeral elevation in facioscapulohumeral muscular dystrophy patients cannot be supported with flexible methods like kinesio taping. Therefore, we recommend to evaluate the scapula position by applying flexible and rigid taping to the patients who can reach over 90 in humerothoracic elevation in future studies.
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http://dx.doi.org/10.1007/s10072-019-03846-y | DOI Listing |
Int J Mol Sci
January 2025
Programa de Comunicación Celular en Cáncer, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.
DUX4 is typically a repressed transcription factor, but its aberrant activation in Facioscapulohumeral Muscular Dystrophy (FSHD) leads to cell death by disrupting muscle homeostasis. This disruption affects crucial processes such as myogenesis, sarcolemma integrity, gene regulation, oxidative stress, immune response, and many other biological pathways. Notably, these disrupted processes have been associated, in other pathological contexts, with the presence of connexin (Cx) hemichannels-transmembrane structures that mediate communication between the intracellular and extracellular environments.
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Department of Thoracic Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.
A 44-year-old man with a history of facioscapulohumeral muscular dystrophy and pectus excavatum presented with multiyear history of progressive, severe respiratory dysfunction, pain, recurrent respiratory infection, and chest wall deformity. With bioprosthetic engineers, the surgical team customized a 3-dimensional printed model of a sternal implant interacting with the patient's anatomy. After approval from the Food and Drug Administration, the customized sternal plates were created and implanted in a sternal reconstruction operation.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Nice University Hospital, Nice, France.
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining these uncommon phenotypes. Demographics, clinical data and clinical scales of FSHD1 patients were retrospectively evaluated.
View Article and Find Full Text PDFUnlabelled: RNA-driven protein aggregation leads to cellular dysregulation by sequestering regulatory proteins, disrupting normal cellular processes, and contributing to the development of diseases and tumorigenesis. Here, we show that double homeobox 4 (DUX4), an early embryonic transcription factor and causative gene of facioscapulohumeral muscular dystrophy (FSHD), induces the accumulation of stable intranuclear RNAs, including nucleolar-associated RNA and human satellite II (HSATII) repeat RNA. Stable intranuclear RNAs drive protein aggregation in DUX4-expressing muscle cells.
View Article and Find Full Text PDFEur J Hum Genet
December 2024
Aix-Marseille Univ-INSERM, Marseille Medical Genetics, Marseille, France.
The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.
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