Five patients were reported in our congenital anomaly registry who had six hands in total with muscular hyperplasia, aberrant muscles, ulnar drift of the fingers in the metacarpophalangeal (MP) joints, flexion contractures of the MP joints, and enlargement of the metacarpal spaces. Thirty patients with unilateral involvement of this condition have been reported previously. We reviewed these cases and found that the condition varied in severity and that it was reported using different names. However, this condition seems different from true macrodactyly and multiple camptodactyly, including windblown hand, and seems to be an isolated entity of congenital upper limb anomaly. The authors recommend 'aberrant muscle syndrome' or 'accessory muscle syndrome' as a diagnostic name, because this seems to be the most common pathological finding in this condition.
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http://dx.doi.org/10.1111/j.1741-4520.2010.00277.x | DOI Listing |
Vascul Pharmacol
January 2025
Cellular and Molecular Cardiovascular Physiology and Pathophysiology Laboratory, Department of Biology, E. and E. S. (DiBEST), University of Calabria, Arcavacata di Rende, Cosenza, Italy; National Institute of Cardiovascular Research (INRC), Bologna, Italy. Electronic address:
The risk for developing cardiovascular diseases dramatically increases in older individuals, and aging vasculature plays a crucial role in determining their morbidity and mortality. Aging disrupts endothelial balance between vasodilators and vasoconstrictors, impairing function and promoting pathological vascular remodeling. In this Review, we discuss the impact of key and emerging molecular pathways that transduce aberrant inflammatory signals (i.
View Article and Find Full Text PDFClin Exp Optom
January 2025
Department of Ophthalmology, Adana City Training and Research Hospital, Adana, Turkey.
Clinical Relevance: Horizontal rectus muscle surgeries may cause changes in corneal and anterior segment parameters. Corneal topography is an important device for identifying these alterations.
Background: The aim of this work is to evaluate the effects of horizontal rectus muscle surgeries on corneal topography, anterior chamber parameters and corneal wavefront aberrations.
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.
View Article and Find Full Text PDFMolecules
December 2024
Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Yamagata University, Yamagata 990-9585, Japan.
Leucine, isoleucine, and valine are collectively known as branched chain amino acids (BCAAs) and are often discussed in the same physiological and pathological situations. The two consecutive initial reactions of BCAA catabolism are catalyzed by the common enzymes referred to as branched chain aminotransferase (BCAT) and branched chain α-keto acid dehydrogenase (BCKDH). BCAT transfers the amino group of BCAAs to 2-ketoglutarate, which results in corresponding branched chain 2-keto acids (BCKAs) and glutamate.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Division of Cardiac Surgery, Department of Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.
A 53-year-old male individual with chronic severe mitral regurgitation presented with biventricular dysfunction, pulmonary hypertension, and atrial fibrillation. Echocardiography demonstrated a posterior leaflet prolapse with malcoaptation. Mitral valve repair and Maze procedure were performed, revealing absent chordae and direct connection from the anterolateral papillary muscle to the posterior leaflet, consistent with partial mitral arcade.
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