Articoli di riviste: "Fusion musculaire"

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Girardi, Francesco, Anissa Taleb, Lorenzo Giordani, Bruno Cadot e Fabien Le Grand. "La signalisation TGFβ contrôle la fusion cellulaire et la régénération musculaire". Les Cahiers de Myologie, n. 19 (giugno 2019): 33–34. http://dx.doi.org/10.1051/myolog/201919013.

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Mounier, Rémi, e Bénédicte Chazaud. "L’axe PPARγ-GDF3 dans les macrophages contrôle la fusion myogénique au cours de la régénération musculaire". médecine/sciences 33, n. 5 (maggio 2017): 466–69. http://dx.doi.org/10.1051/medsci/20173305003.

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Kumari, Pushpa. "Histopathological changes and elaboration of Mucosubstances induced by metacid in the large intestine of fingerlings of Channa punctatus (Bloch)". PROCEEDINGS OF THE ZOOLOGICAL SOCIETY OF INDIA 23, n. 02 (dicembre 2024): 275. https://doi.org/10.59467/pzsi.2024.23.275.

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The Communication reports the metacid (an organophosphate pesticide) induced histopathological and histochemical alterations in the large intestine of fingerlings of a fresh water air breathing snake headed murrel fish, Channa punctatus (Bloch). The fishes were exposed to sublethal concentration (8.4ppm) of metacid for 96 hrs. Histologically large intestine contained usual four layers mucosa, submucosa, muscularis and serosa. Metacid intoxication caused histopathologically changes in the large intestine were intestinal villi was totally destroyed, the mucosal layer was entirely separated from the submucosa; submucosa showed necrosis; muscularis was thickened; villi showed fusion of their bases; mucosal cells showed vascuolation. Histochemically after Simazine Intoxication submucosal neutral mucins showed intense staining with PAS; serosal lining showed slight PAS reactivity, number of acid mucosubstances secreting cells increased, musculars showed reduced glycogen concentration.. KEYWORDS :Metacid, Histopathology, Large Intestine, Channa punctatus (Bloch).

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Hoh, Daniel J., Michael Y. Wang e Stephen L. Ritland. "Anatomic Features of the Paramedian Muscle-Splitting Approaches to the Lumbar Spine". Operative Neurosurgery 66, suppl_1 (1 marzo 2010): ons—13—ons—25. http://dx.doi.org/10.1227/01.neu.0000350866.25760.33.

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Abstract Background: Intermuscular approaches can expose the lumbar spine and minimize muscular trauma and injury. The segmental anatomy of the posterior lumbar musculature allows surgical access through separation of muscle groups and fascicles and provides one to develop intermuscular working channels while preserving the integrity of the muscles and their function. In addition, preservation of the accompanying neurovascular bundles minimizes blood loss, tissue atrophy, and pain. With these approaches, a variety of procedures for decompression, discectomy, interbody fusion, or pedicle screw fixation can be achieved for single or multiple levels without subperiosteal stripping or muscle transection. Objective: A detailed description of the relevant surgical anatomy for the muscle-sparing approach to the lumbar spine.

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Chargé, Sophie B. P. "Interleukine-4 et fusion des cellules musculaires". médecine/sciences 19, n. 12 (dicembre 2003): 1185–87. http://dx.doi.org/10.1051/medsci/200319121185.

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Verma, Abhisht, Isha Garg e Anamendra Sharma. "Klippel–Feil Syndrome with Limited Rotation Range of Motion: Our Observation on Radiographic Evaluation of Cervical Spine Case Series". Journal of Bone and Joint Diseases 39, n. 2 (maggio 2024): 90–94. http://dx.doi.org/10.4103/jbjd.jbjd_13_24.

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Abstract Background: The aim is to identify radiographic changes in the cervical spine or occipitocervical junction in patients with restricted lateral bending and lateral rotation due to Klippel–Feil syndrome. It is important to consider this altered mobility or fusion when planning surgery for hypermobile segments. Observation: In Klippel–Feil syndrome, restricted rotation is typically associated with occipitocervical involvement, but it can also be caused by long fusion of the cervical vertebrae alone. If left untreated in early childhood, this fusion and the relatively mobile lower segments can lead to ligament fibrosis and degenerative changes. Materials and Methods: Nine patients with Klippel–Feil syndrome were clinically evaluated and underwent plain radiographs. Patients with significant concerns about neck motion underwent CT scans. Results: Two out of the nine patients were below the age of 14 years, while the rest were neglected cases. Radiologically, one patient had a single fused cervical segment, two had multiple contiguous cervical segment fusions, and the remaining patients had multiple non-contiguous segments fused. Conclusion: All included patients had rotational restriction, but not all had occipitalization of the cervical spine. It is believed that this may be due to prolonged fibrosis affecting the musculature. This finding can impact surgical planning for fusion of hypermobile segments, as it could further limit functional motion in neglected elderly patients who were previously doing well.

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Diab, Mohammad. "Scapulothoracic Fusion for Facioscapulohumeral Muscular Dystrophy". Journal of Bone and Joint Surgery (American) 87, n. 10 (1 ottobre 2005): 2267. http://dx.doi.org/10.2106/jbjs.d.02952.

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DIAB, MOHAMMAD, BASIL T. DARRAS e FREDERIC SHAPIRO. "SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY". Journal of Bone and Joint Surgery-American Volume 87, n. 10 (ottobre 2005): 2267–75. http://dx.doi.org/10.2106/00004623-200510000-00017.

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Brook, P. D., J. D. Kennedy, L. M. Stern, A. D. Sutherland e B. K. Foster. "Spinal Fusion in Duchenne's Muscular Dystrophy". Journal of Pediatric Orthopaedics 16, n. 3 (maggio 1996): 324–31. http://dx.doi.org/10.1097/01241398-199605000-00006.

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Miller, Freeman, Colin F. Moseley e Jan Koreska. "SPINAL FUSION IN DUCHENNE MUSCULAR DYSTROPHY". Developmental Medicine & Child Neurology 34, n. 9 (12 novembre 2008): 775–86. http://dx.doi.org/10.1111/j.1469-8749.1992.tb11516.x.

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Budzynska, Katarzyna, Katarzyna T. Bozyk, Klaudia Jarosinska, Anna Ziemiecka, Krzysztof Siemionow e Maria Siemionow. "Developing Advanced Chimeric Cell Therapy for Duchenne Muscular Dystrophy". International Journal of Molecular Sciences 25, n. 20 (11 ottobre 2024): 10947. http://dx.doi.org/10.3390/ijms252010947.

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Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked disorder leading to muscle degeneration and premature death due to cardiopulmonary complications. Currently, there is no cure for DMD. We previously confirmed the efficacy of human Dystrophin-Expressing Chimeric (DEC) cells created via the fusion of myoblasts from normal and DMD-affected donors. The current study aimed to optimize the development of DEC therapy via the polyethylene glycol (PEG)-mediated fusion protocol of human myoblasts derived from normal, unrelated donors. The optimization of cell fusion assessed different factors influencing fusion efficacy, including myoblast passage number, the efficacy of PKH myoblast staining, the ratio of the single-stained myoblasts in the MIX, and PEG administration time. Additionally, the effect of PEG fusion procedure on cell viability was assessed. A correlation was found between the number of cells used for PKH staining and staining efficacy. Furthermore, the ratio of single-stained myoblasts in the MIX and PEG administration time correlated with fusion efficacy. There was no correlation found between the myoblast passage number and fusion efficacy. This study successfully optimized the myoblast fusion protocol for creation of human DEC cells, introducing DEC as a new Advanced Therapy Medicinal Product (ATMP) for DMD patients.

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Shapiro, Scott, Carl Sartorius, Steven Sanders e Steve Clark. "Microvascular End-to-Side Arterial Anastomosis Using the Nd: YAG Laser". Neurosurgery 25, n. 4 (1 ottobre 1989): 584–89. http://dx.doi.org/10.1227/00006123-198910000-00012.

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Abstract End-to-side, laser-assisted vascular anastomosis (LAVA) using a Nd:YAG laser was successfully performed on rat carotid arteries. A midline neck incision allowed isolation and approximation of both carotid arteries in an end-to-side fashion using four 10-0 nylon stay sutures. The laser parameters used for vessel fusion were 0.3-second 5-W pulses at a spot size of 600 Mm. Anastomoses were analyzed at various time intervals from 1 day to 6 months by angiogram and histological examination. The anastomotic patency was 86%. Aneurysm formation occurred in 23%. Histological examination revealed an acute/subacute transmural injury both at the anastomotic site and several hundred microns away, with delayed re-endothelialization and some attempt at muscular and elastic regeneration. Histological assessment of the aneurysms demonstrated a total loss of the internal elastic lamina and muscularis. A brief discussion comparing Nd:YAG LAVA to other LAVA techniques follows.

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Epstein, Nancy E. "Review of Risks and Complications of Extreme Lateral Interbody Fusion (XLIF)". Surgical Neurology International 10 (6 dicembre 2019): 237. http://dx.doi.org/10.25259/sni_559_2019.

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Background: Extreme lateral interbody fusions (XLIF) and Minimally Invasive (MIS) XLIF were developed to limit the vascular injuries associated with anterior lumbar interbody fusion (ALIF), and minimize the muscular/ soft tissue trauma attributed to transforaminal lumbar interbody fusion (TLIF), posterior lumbar interbody fusion (PLIF), and posterolateral lumbar fusion (PLF). Methods: Nevertheless, XLIF/MIS XLIF pose significant additional risks and complications that include; multiple nerve injuries (e.g. lumbar plexus, ilioinguinal, iliohypogastric, genitofemoral, lateral femoral cutaneous, and subcostals (to the anterior abdominal muscles: abdominal oblique), and sympathectomy), major vascular injuries, bowel perforations/postoperative ileus, seromas, pseudarthrosis, subsidence, and reoperations. Results: The risks of neural injury with XLIF/MIS XLIF (up to 30-40%) are substantially higher than for TLIF, PLIF, PLF, and ALIF. These neural injuries included: lumbar plexus injuries (13.28%); new sensory deficits (0-75% (21.7%-40%); permanent 62.5%); motor deficits (0.7-33.6%-40%); iliopsoas weakness (9%-31%: permanent 5%), anterior thigh/groin pain (12.5-34%), and sympathectomy (4%-12%). Additional non-neurological complications included; subsidence (10.3%-13.8%), major vascular injuries (0.4%), bowel perforations, recurrent seroma, malpositioning of the XLIF cages, a 45% risk of cage-overhang, pseudarthrosis (7.5%), and failure to adequately decompress stenosis. In one study, reviewing 20 publications and involving 1080 XLIF patients, the authors observed “Most (XLIF) studies are limited by study design, sample size, and potential conflicts of interest.” Conclusion: Many new neurological deficits and other adverse events/complications are attributed to MIS XLIF/ XLIF. Shouldn’t these significant risk factors be carefully taken into consideration before choosing to perform MIS XLIF/XLIF?

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Mubarak, Scott J., William D. Morin e Judy Leach. "Spinal Fusion in Duchenne Muscular Dystrophy-Fixation and Fusion to the Sacropelvis?" Journal of Pediatric Orthopaedics 13, n. 6 (novembre 1993): 752–57. http://dx.doi.org/10.1097/01241398-199311000-00012.

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Marengo, Nicola, Marco Ajello, Michele Federico Pecoraro, Giulia Pilloni, Giovanni Vercelli, Fabio Cofano, Francesco Zenga, Alessandro Ducati e Diego Garbossa. "Cortical Bone Trajectory Screws in Posterior Lumbar Interbody Fusion: Minimally Invasive Surgery for Maximal Muscle Sparing—A Prospective Comparative Study with the Traditional Open Technique". BioMed Research International 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/7424568.

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Introduction. A prospective comparative study between classical posterior interbody fusion with peduncular screws and the new technique with divergent cortical screws was conducted. Material and Methods. Only patients with monosegmental degenerative disease were recruited into this study. We analyzed a cohort of 40 patients treated from January 2015 to March 2016 divided into 2 groups (20 patients went to traditional open surgery and 20 patients under mini-invasive strategy). Primary endpoints of this study are fusion rate and muscular damage; secondary endpoints analyzed were three different clinical scores (ODI, VAS, and EQ) and the morbidity rate of both techniques. Results. There was no significant difference in fusion rate between the two techniques. In addition, a significant difference in muscular damage was found according to the MRI evaluation. Clinical outcomes, based on pain intensity, Oswestry Disability Index status, and Euroquality-5D score, were found to be also statistically different, even one year after surgery. This study also demonstrated a correlation between patients’ muscular damage and their clinical outcome. Conclusions. Cortical bone trajectory screws would provide similar outcomes compared to pedicle screws in posterior lumbar interbody fusion at one year after surgery, and this technique represents a reasonable alternative to pedicle screws.

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Paululat, A., S. Burchard e R. Renkawitz-Pohl. "Fusion from myoblasts to myotubes is dependent on the rolling stone gene (rost) of Drosophila". Development 121, n. 8 (1 agosto 1995): 2611–20. http://dx.doi.org/10.1242/dev.121.8.2611.

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The development and differentiation of the body wall musculature in Drosophila are accompanied by changes in gene expression and cellular architecture. We isolated a Drosophila gene, termed rolling stone (rost), which, when mutated, specifically blocks the fusion of mononucleated cells to myotubes in the body wall musculature. beta 3 tubulin, which is an early marker for the onset of mesoderm differentiation, is still expressed in these cells. Gastrulation and mesoderm formation, as well as the development of the epidermis and of the central and peripheral nervous systems, appear quite normal in homozygous rolling stone embryos. Embryonic development stops shortly before hatching in a P-element-induced mutant, as well as in 16 EMS-induced alleles. In mutant embryos, other mesodermal derivatives such as the visceral mesoderm and the dorsal vessel, develop fairly normally and defects are restricted to the body wall musculature. Myoblasts remain as single mononucleated cells, which express muscle myosin, showing that the developmental program of gene expression proceeds. These myoblasts occur at positions corresponding to the locations of dorsal, ventral and pleural muscles, showing that the gene rolling stone is involved in cell fusion, a process that is independent of cell migration in these mutants. This genetic analysis has set the stage for a molecular analysis to clarify where the rolling stone action is manifested in the fusion process and thus gives insight into the complex regulating network controlling the differentiation of the body wall musculature.

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Volonte, Daniela, Aaron J. Peoples e Ferruccio Galbiati. "Modulation of Myoblast Fusion by Caveolin-3 in Dystrophic Skeletal Muscle Cells: Implications for Duchenne Muscular Dystrophy and Limb-Girdle Muscular Dystrophy-1C". Molecular Biology of the Cell 14, n. 10 (ottobre 2003): 4075–88. http://dx.doi.org/10.1091/mbc.e03-03-0161.

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Caveolae are vesicular invaginations of the plasma membrane. Caveolin-3 is the principal structural component of caveolae in skeletal muscle cells in vivo. We have recently generated caveolin-3 transgenic mice and demonstrated that overexpression of wild-type caveolin-3 in skeletal muscle fibers is sufficient to induce a Duchenne-like muscular dystrophy phenotype. In addition, we have shown that caveolin-3 null mice display mild muscle fiber degeneration and T-tubule system abnormalities. These data are consistent with the mild phenotype observed in Limb-girdle muscular dystrophy-1C (LGMD-1C) in humans, characterized by a ∼95% reduction of caveolin-3 expression. Thus, caveolin-3 transgenic and null mice represent valid mouse models to study Duchenne muscular dystrophy (DMD) and LGMD-1C, respectively, in humans. Here, we derived conditionally immortalized precursor skeletal muscle cells from caveolin-3 transgenic and null mice. We show that overexpression of caveolin-3 inhibits myoblast fusion to multinucleated myotubes and lack of caveolin-3 enhances the fusion process. M-cadherin and microtubules have been proposed to mediate the fusion of myoblasts to myotubes. Interestingly, we show that M-cadherin is downregulated in caveolin-3 transgenic cells and upregulated in caveolin-3 null cells. For the first time, variations of M-cadherin expression have been linked to a muscular dystrophy phenotype. In addition, we demonstrate that microtubules are disorganized in caveolin-3 null myotubes, indicating the importance of the cytoskeleton network in mediating the phenotype observed in these cells. Taken together, these results propose caveolin-3 as a key player in myoblast fusion and suggest that defects of the fusion process may represent additional molecular mechanisms underlying the pathogenesis of DMD and LGMD-1C in humans.

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Li, Bo, Andrew K. Chan, Praveen V. Mummaneni, John F. Burke, Michael M. Safaee e Dean Chou. "Preliminary experience using S1–alar iliac fixation with navigation: technical note". Journal of Neurosurgery: Spine 35, n. 6 (dicembre 2021): 774–79. http://dx.doi.org/10.3171/2021.1.spine201744.

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Traditional iliac screws and S2–alar iliac (S2-AI) screws are common methods used for pelvic fixation, and many surgeons advocate pelvic fixation for long-segment fixation to the sacrum. However, in patients without severe deformities and only degenerative conditions, many surgeons may choose S1 screws only. Moreover, even with S2-AI screws, there is more muscular dissection than with using S1 screws, and the rod connection can be cumbersome in both S2-AI fixation and placing iliac screws. Using a surgical video, artist’s illustration, and intraoperative photographs, the authors describe the S1-AI screw fixation technique that allows for single-screw sacral and iliac fixation, requires less distal dissection of the sacrum, allows for easier rod connection, and may be an option in degenerative conditions needing pelvic fixation. However, this is a preliminary feasibility study, and in long fusion constructs, this type of fixation has only been used in conjunction with L5–S1 anterior lumbar interbody fusion (ALIF), and there are no long-term data on the use of this screw fixation technique without ALIF. In short-segment revision fusions, this technique may be considered for salvage in cases of large halos in the sacrum from loosened S1 screw fixation.

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Huertas, Jesús R., Francisco Javier Ruiz‐Ojeda, Julio Plaza‐Díaz, Nikolai B. Nordsborg, Jesús Martín‐Albo, Ascensión Rueda‐Robles e Rafael A. Casuso. "Human muscular mitochondrial fusion in athletes during exercise". FASEB Journal 33, n. 11 (9 agosto 2019): 12087–98. http://dx.doi.org/10.1096/fj.201900365rr.

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Bour, Barbara A., Malabika Chakravarti, Joshua M. West e Susan M. Abmayr. "Drosophila SNS, a member of the immunoglobulin superfamily that is essential for myoblast fusion". Genes & Development 14, n. 12 (15 giugno 2000): 1498–511. http://dx.doi.org/10.1101/gad.14.12.1498.

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The Drosophila sticks-and-stones (sns) locus was identified on the basis of its mutant phenotype, the complete absence of body wall muscles and corresponding presence of unfused myoblasts. The genetic location of the mutation responsible for this apparent defect in myoblast fusion was determined by recombination and deficiency mapping, and the corresponding wild-type gene was isolated in a molecular walk. Identification of the SNS coding sequence revealed a putative member of the immunoglobulin superfamily (IgSF) of cell adhesion molecules. As anticipated from this homology, SNS is enriched at the membrane and clusters at discrete sites, coincident with the occurrence of myoblast fusion. Both the sns transcript and the encoded protein are expressed in precursors of the somatic and visceral musculature of the embryo. Within the presumptive somatic musculature, SNS expression is restricted to the putative fusion-competent cells and is not detected in unfused founder cells. Thus, SNS represents the first known marker for this subgroup of myoblasts, and provides an opportunity to identify pathways specifying this cell type as well as transcriptional regulators of fusion-specific genes. To these ends, we demonstrate that the presence of SNS-expressing cells is absolutely dependent on Notch, and that expression of SNS does not require the myogenic regulatory protein MEF2.

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Sorokina, Vera S., e Olga G. Ovtshinnikova. "The Phylogenetic Relationships of the Fanniidae within the Muscoid Grade (Diptera: Calyptrata) Based on the Musculature of the Male Terminalia". Insects 13, n. 2 (18 febbraio 2022): 210. http://dx.doi.org/10.3390/insects13020210.

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The abdominal and pregenital segments and the genitalia were studied in males of Fannia subpellucens (Zetterstedt, 1845), Fannia canicularis (Linnaeus, 1761) and Fannia incisurata (Zetterstedt, 1838). In comparison with the remaining members of the muscoid grade, in addition to the symmetry of the pregenital segments, significant reductions of the sclerites and musculature of the male terminalia have been observed in Fanniidae. The muscular structure of pregenital segments confirms that the fused pregenital ring is syntergosternite VI + VII + VIII. Symmetry and fusion, as well as the lower number of the sclerites and muscles of the pregenital segments and male genitalia of the Fanniidae, can be considered apomorphic character states. The presence of the lateral bacilliform sclerite, as well as the presence and position of the epandrial muscles M 26, three pairs of muscles M 19 and paired muscles M 18, can be considered as a plesiomorphic character state of the Fanniidae. The structure of the sclerites and muscles of the male abdominal segments and terminalia place the Fanniidae at the base of the muscoid grade and Oestroidea, as has been confirmed by recent molecular studies.

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Vilquin, J. T., I. Kinoshita, B. Roy, M. Goulet, E. Engvall, F. Tomé, M. Fardeau e J. P. Tremblay. "Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation." Journal of Cell Biology 133, n. 1 (1 aprile 1996): 185–97. http://dx.doi.org/10.1083/jcb.133.1.185.

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Laminin-2 is a component of skeletal and cardiac basal lamina expressed in normal mouse and human. Laminin alpha2 chain (LAMA2), however, is absent from muscles of some congenital muscular dystrophy patients and the dystrophia muscularis (dy/dy) mouse model. LAMA2 restoration was investigated following cell transplantation in vivo in dy/dy mouse. Allogeneic primary muscle cell cultures expressing the beta-galactosidase transgene under control of a muscular promoter, or histocompatible primary muscle cell cultures, were transplanted into dy/dy mouse muscles. FK506 immunosuppression was used in noncompatible models. All transplanted animals expressed LAMA2 in these immunologically-controlled models, and the degrees of LAMA2 restoration were shown to depend on the age of the animal at transplantation, on muscle pretreatment, and on duration time after transplantation in some cases. LAMA2 did not always colocalize with new or hybrid muscle fibers formed by the fusion of donor myoblasts. LAMA2 deposition around muscle fibers was often segmental and seemed to radiate from the center to the periphery of the injection site. Allogeneic conditionally immortalized pure myogenic cells expressing the beta-galactosidase transgene were characterized in vitro and in vivo. When injected into FK506-immunosuppressed dy/dy mice, these cells formed new or hybrid muscle fibers but essentially did not express LAMA2 in vivo. These data show that partial LAMA2 restoration is achieved in LAMA2-deficient dy/dy mouse by primary muscle cell culture transplantation. However, not all myoblasts, or myoblasts alone, or the muscle fibers they form are capable of LAMA2 secretion and deposition in vivo.

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Ramirez, Norman, B. Stephens Richards, Paul D. Warren e George R. Williams. "Complications After Posterior Spinal Fusion in Duchenne's Muscular Dystrophy". Journal of Pediatric Orthopaedics 17, n. 1 (gennaio 1997): 109–14. http://dx.doi.org/10.1097/01241398-199701000-00023.

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Griffin, Danielle A., Ryan W. Johnson, Jarred M. Whitlock, Eric R. Pozsgai, Kristin N. Heller, William E. Grose, W. David Arnold, Zarife Sahenk, H. Criss Hartzell e Louise R. Rodino-Klapac. "Defective membrane fusion and repair inAnoctamin5-deficient muscular dystrophy". Human Molecular Genetics 25, n. 10 (23 febbraio 2016): 1900–1911. http://dx.doi.org/10.1093/hmg/ddw063.

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Wolfe, G. I., P. K. Young, S. P. Nations, W. Z. Burkhead, A. L. McVey e R. J. Barohn. "Brachial plexopathy following thoracoscapular fusion in facioscapulohumeral muscular dystrophy". Neurology 64, n. 3 (7 febbraio 2005): 572–73. http://dx.doi.org/10.1212/01.wnl.0000150907.82191.05.

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Shapiro, Frederic, Navil Sethna, Steven Colan, Mary Ellen Wohl e Linda Specht. "Spinal fusion in duchenne muscular dystrophy: A multidisciplinary approach". Muscle & Nerve 15, n. 5 (maggio 1992): 604–14. http://dx.doi.org/10.1002/mus.880150512.

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Dewald, Christopher J., Keith W. Millikan, Kim W. Hammerberg, Alexander Doolas e Ronald L. Dewald. "An Open, Minimally Invasive Approach to the Lumbar Spine". American Surgeon 65, n. 1 (gennaio 1999): 61–68. http://dx.doi.org/10.1177/000313489906500115.

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Abstract (sommario):

A minimum 2-year follow-up retrospective review was undertaken to assess our experience with an anterior paramedian muscle-sparing approach to the lumbar spine for anterior spinal fusion (ASF). The records of 28 patients (November 1991 through January 1996) undergoing ASF via a left lower quadrant transverse skin incision (6–10 cm) with a paramedian anterior rectus fascial Z-plasty retroperitoneal approach were reviewed. Diagnosis, number, and level of lumbar interspaces fused, types of fusion, estimated blood loss, length of procedure, length of hospital stay, and complications were analyzed. All cases were completed as either a same-day anterior/posterior (24 of 28) or as a staged procedure at least 1 week after posterior fusion (4 of 28). The General Surgery service performed the muscle-sparing approach, whereas the Orthopedic Spine service performed the ASF. There were 14 men and 14 women, with a mean age of 35.5 years (range, 11–52 years). Diagnoses included spondylolisthesis in 20 cases (including four grade III or IV slips), segmental instability (degenerative or postsurgical) in 7, and 1 flatback deformity. A single level was fused in 20 cases (L4/5 in 4 and L5/S1 in 16), two levels were fused in 5 cases (L4/5 and L5/S1) and three levels were fused in 2 cases (L3/4, L4/5, and L5/S1). The mean length of stay was 7.4 days (range, 5–12 days). The mean estimated blood loss was 300 mL for the anterior procedure alone and 700 ml for both anterior/posterior procedures on the same day. The mean length of operating room time for the anterior approach and fusion was 117 minutes (range, 60–330 minutes). Posterior instrumentation was used in all cases. Anterior interbody struts used included 19 autogenous tricortical grafts, 4 fresh-frozen allografts (2 femoral rings and 2 iliac crests), 3 carbon fiber cages packed with autogenous bone, and a Harms titanium cage with autograft. There was one L5 corpectomy for which a large tricortical allograft strut was utilized. There were no vascular, visceral, or urinary tract injuries. In three cases a mild ileus developed, which resolved spontaneously. We conclude that the anterior paramedian muscle-sparing retroperitoneal approach is safe, uses a small skin incision, avoids cutting abdominal wall musculature, and allows for multiple-level anterior spinal fusions by a variety of interbody fusion techniques. This approach does not require transperitoneal violation or added endoscopic instrumentation, nor does it limit fusion level and technique of fusion, as is the case with the recently popularized laparoscopic approach to the lumbar spine.

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Dhanyasi, Nagaraju, Dagan Segal, Eyal Shimoni, Vera Shinder, Ben-Zion Shilo, K. VijayRaghavan e Eyal D. Schejter. "Surface apposition and multiple cell contacts promote myoblast fusion in Drosophila flight muscles". Journal of Cell Biology 211, n. 1 (12 ottobre 2015): 191–203. http://dx.doi.org/10.1083/jcb.201503005.

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Abstract (sommario):

Fusion of individual myoblasts to form multinucleated myofibers constitutes a widely conserved program for growth of the somatic musculature. We have used electron microscopy methods to study this key form of cell–cell fusion during development of the indirect flight muscles (IFMs) of Drosophila melanogaster. We find that IFM myoblast–myotube fusion proceeds in a stepwise fashion and is governed by apparent cross talk between transmembrane and cytoskeletal elements. Our analysis suggests that cell adhesion is necessary for bringing myoblasts to within a minimal distance from the myotubes. The branched actin polymerization machinery acts subsequently to promote tight apposition between the surfaces of the two cell types and formation of multiple sites of cell–cell contact, giving rise to nascent fusion pores whose expansion establishes full cytoplasmic continuity. Given the conserved features of IFM myogenesis, this sequence of cell interactions and membrane events and the mechanistic significance of cell adhesion elements and the actin-based cytoskeleton are likely to represent general principles of the myoblast fusion process.

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Gaine, W. J., J. Lim, W. Stephenson e C. S. B. Galasko. "Progression of scoliosis after spinal fusion in Duchenne’s muscular dystrophy". Journal of Bone and Joint Surgery. British volume 86-B, n. 4 (maggio 2004): 550–55. http://dx.doi.org/10.1302/0301-620x.86b4.14481.

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30

FURUMASU, JAN, SUSAN M. SWANK, JOHN C. BROWN, IRENE GILGOFF, SANDRA WARATH e JOHN ZELLER. "Functional Activities in Spinal Muscular Atrophy Patients after Spinal Fusion". Spine 14, n. 7 (luglio 1989): 771–75. http://dx.doi.org/10.1097/00007632-198907000-00021.

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31

Hino, Kaori, Mitsumasa Fukuda, Tadao Morino, Tadanori Ogata, Masanori Ito e Eiichi Ishii. "Spinal fusion in a patient with Fukuyama congenital muscular dystrophy". Brain and Development 39, n. 7 (agosto 2017): 613–16. http://dx.doi.org/10.1016/j.braindev.2017.02.003.

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32

Kadri, Paulo A. S., e Ossama Al-Mefty. "Anatomy of the Nuchal Ligament and Its Surgical Applications". Operative Neurosurgery 61, suppl_5 (1 novembre 2007): ONS301—ONS304. http://dx.doi.org/10.1227/01.neu.0000303985.65117.ea.

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Abstract (sommario):

Abstract Objective: Although considered a basic maneuver for neurosurgical procedures, dissection of the musculature of the posterior cervical spine can be a source of complications during surgery. These complications include excessive blood loss, a loss of the plane of dissection, and injury to important structures such as the vertebral artery and nerve roots. Inappropriate closing of the muscular plane might also contribute to leakage of spinal fluid and postoperative deformation of the cervical spine. We review the anatomy of the nuchal ligament and describe a technical nuance based on the characteristics of the ligament's components, which can be used to assure the midline for a bloodless and atraumatic dissection. Methods: We set out to determine whether or not the nuchal ligament could be used as a natural plane of dissection for splitting the posterior cervical musculature. We studied the anatomy of the nuchal ligament in five cadavers. Results: The nuchal ligament extends from the external occipital protuberance to the spinous process of the seventh cervical vertebra (C7). It is covered by layers of cervical fascia and the aponeurosis of the trapezius muscle. It is composed of two portions: 1) the lamellar portion, an anterior double-layered portion with fatty areolar tissue interposed between its layers that inserts into the medial side of the bifid spinous process of the cervical vertebra; and 2) the funicular portion, a posterior fibrous portion that corresponds to the fusion of the layers of the lamellar portion. Conclusion: Several steps can assure that the midline plane is respected, thereby decreasing risk and reducing trauma and blood loss during dissection: 1) dissection of the nuchal ligament within the fatty areolar tissue of the lamellar portion, 2) isolation and incision of the funicular portion from inside to outside, and 3) retrograde dissection of the cerviconuchal muscles attached to the occipital bone in a subperiosteal plane.

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Cui, Chang-Hao, Taro Uyama, Kenji Miyado, Masanori Terai, Satoru Kyo, Tohru Kiyono e Akihiro Umezawa. "Menstrual Blood-derived Cells Confer Human Dystrophin Expression in the Murine Model of Duchenne Muscular Dystrophy via Cell Fusion and Myogenic Transdifferentiation". Molecular Biology of the Cell 18, n. 5 (maggio 2007): 1586–94. http://dx.doi.org/10.1091/mbc.e06-09-0872.

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Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder in children, is an X-linked recessive muscle disease characterized by the absence of dystrophin at the sarcolemma of muscle fibers. We examined a putative endometrial progenitor obtained from endometrial tissue samples to determine whether these cells repair muscular degeneration in a murine mdx model of DMD. Implanted cells conferred human dystrophin in degenerated muscle of immunodeficient mdx mice. We then examined menstrual blood–derived cells to determine whether primarily cultured nontransformed cells also repair dystrophied muscle. In vivo transfer of menstrual blood–derived cells into dystrophic muscles of immunodeficient mdx mice restored sarcolemmal expression of dystrophin. Labeling of implanted cells with enhanced green fluorescent protein and differential staining of human and murine nuclei suggest that human dystrophin expression is due to cell fusion between host myocytes and implanted cells. In vitro analysis revealed that endometrial progenitor cells and menstrual blood–derived cells can efficiently transdifferentiate into myoblasts/myocytes, fuse to C2C12 murine myoblasts by in vitro coculturing, and start to express dystrophin after fusion. These results demonstrate that the endometrial progenitor cells and menstrual blood–derived cells can transfer dystrophin into dystrophied myocytes through cell fusion and transdifferentiation in vitro and in vivo.

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Vachon, P. H., F. Loechel, H. Xu, U. M. Wewer e E. Engvall. "Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival." Journal of Cell Biology 134, n. 6 (15 settembre 1996): 1483–97. http://dx.doi.org/10.1083/jcb.134.6.1483.

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Abstract (sommario):

Laminin (laminin-1; alpha 1-beta 1-gamma 1) is known to promote myoblast proliferation, fusion, and myotube formation. Merosin (laminin-2 and -4; alpha 2-beta 1/beta 2-gamma 1) is the predominant laminin variant in skeletal muscle basement membranes; genetic defects affecting its structure or expression are the causes of some types of congenital muscular dystrophy. However, the precise nature of the functions of merosin in muscle remain unknown. We have developed an in vitro system that exploits human RD and mouse C2C12 myoblastic cell lines and their clonal variants to study the roles of merosin and laminin in myogenesis. In the parental cells, which fuse efficiently to multinucleated myotubes, merosin expression is upregulated as a function of differentiation while laminin expression is downregulated. Cells from fusion-deficient clones do not express either protein, but laminin or merosin added to the culture medium induced their fusion. Clonal variants which fuse, but form unstable myotubes, express laminin but not merosin. Exogenous merosin converted these myotubes to a stable phenotype, while laminin had no effect. Myotube instability was corrected most efficiently by transfection of the merosin-deficient cells with the merosin alpha 2 chain cDNA. Finally, merosin appears to promote myotube stability by preventing apoptosis. Hence, these studies identify novel biological functions for merosin in myoblast fusion and muscle cell survival; furthermore, these explain some of the pathogenic events observed in congenital muscular dystrophy caused by merosin deficiency and provide in vitro models to further investigate the molecular mechanisms of this disease.

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Shokuhfar, Tahaamin, Ramez N. Abdalla, Michael C. Hurley, Pouya Nazari, Sameer A. Ansari, Senda Ajroud-Driss, Nancy Kuntz, Subhan Azmi, Vamshi Rao e Ali Shaibani. "Transforaminal Intrathecal Access for Injection of Nusinersen in Adult and Pediatric Patients with Spinal Muscular Atrophy". Journal of Pediatric Neurology 18, n. 02 (30 settembre 2019): 088–94. http://dx.doi.org/10.1055/s-0039-1697583.

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AbstractThe main purpose of this article is to assess the safety and efficacy of transforaminal lumbar puncture for the injection of nusinersen (Spinraza) in patients with extensive spinal fusion and/or scoliosis.A retrospective chart reviews of all spinal muscular atrophy patients (adults and children) were conducted. Demographic data, procedure details, follow-ups, and related complications were recorded.We performed 85 transforaminal injections in nine pediatric patients (5 male and 4 female) aged between 8 and 17 years (mean = 11 years) and seven adult patients (5 females and 2 males) aged between 24 and 41 years (mean= 30 years). Fluoroscopy guidance was used in 87% of our patients. No major complication was reported.Fluoroscopy-guided transforaminal nusinersen injection is a safe and successful alternative approach in adult and pediatric patients with severe spinal scoliosis, interlaminar osseous fusion, and spinal fusion hardware.

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Niranjan, Nandita, Satvik Mareedu, Yimin Tian, Kasun Kodippili, Nadezhda Fefelova, Antanina Voit, Lai-Hua Xie, Dongsheng Duan e Gopal J. Babu. "Sarcolipin overexpression impairs myogenic differentiation in Duchenne muscular dystrophy". American Journal of Physiology-Cell Physiology 317, n. 4 (1 ottobre 2019): C813—C824. http://dx.doi.org/10.1152/ajpcell.00146.2019.

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Reduction in the expression of sarcolipin (SLN), an inhibitor of sarco(endo)plasmic reticulum (SR) Ca2+-ATPase (SERCA), ameliorates severe muscular dystrophy in mice. However, the mechanism by which SLN inhibition improves muscle structure remains unclear. Here, we describe the previously unknown function of SLN in muscle differentiation in Duchenne muscular dystrophy (DMD). Overexpression of SLN in C2C12 resulted in decreased SERCA pump activity, reduced SR Ca2+ load, and increased intracellular Ca2+ ([Formula: see text]) concentration. In addition, SLN overexpression resulted in altered expression of myogenic markers and poor myogenic differentiation. In dystrophin-deficient dog myoblasts and myotubes, SLN expression was significantly high and associated with defective [Formula: see text] cycling. The dystrophic dog myotubes were less branched and associated with decreased autophagy and increased expression of mitochondrial fusion and fission proteins. Reduction in SLN expression restored these changes and enhanced dystrophic dog myoblast fusion during differentiation. In summary, our data suggest that SLN upregulation is an intrinsic secondary change in dystrophin-deficient myoblasts and could account for the [Formula: see text] mishandling, which subsequently contributes to poor myogenic differentiation. Accordingly, reducing SLN expression can improve the [Formula: see text] cycling and differentiation of dystrophic myoblasts. These findings provide cellular-level supports for targeting SLN expression as a therapeutic strategy for DMD.

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PIASECKI, JACK O., SIAVASH MAHINPOUR e DAVID B. LEVINE. "Long-term Follow-up of Spinal Fusion in Spinal Muscular Atrophy". Clinical Orthopaedics and Related Research &NA;, n. 207 (giugno 1986): 44???54. http://dx.doi.org/10.1097/00003086-198606000-00009.

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Piasecki, J. O., S. Mahinpour e D. Levine. "LONG-TERM FOLLOW-UP OF SPINAL FUSION IN SPINAL MUSCULAR ATROPHY". Journal of Pediatric Orthopaedics 7, n. 2 (marzo 1987): 247. http://dx.doi.org/10.1097/01241398-198703000-00062.

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39

Kord, Dorsa, Eva Liu, Nolan S. Horner, George S. Athwal, Moin Khan e Bashar Alolabi. "Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review". Shoulder & Elbow 12, n. 2 (14 agosto 2019): 75–90. http://dx.doi.org/10.1177/1758573219866195.

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Abstract (sommario):

Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare condition associated with selective weakness of the muscles of the upper arm, face, and shoulder girdle, negatively affecting daily activities. Scapulothoracic arthrodesis may restore shoulder function and improve quality of life. The purpose of this review is to evaluate the outcomes and complications of scapulothoracic arthrodesis in FSHD patients. Methods Medline, Pubmed, and Embase were systematically searched. Studies were included if they described scapulothoracic arthrodesis in FSHD with follow-up, and outcomes were adequately reported. Thirteen eligible articles reported the outcomes of 199 arthrodesis in 130 patients. Results The mean gain of shoulder forward elevation and abduction were 45° (p < 0.05) and 40° (p < 0.05), respectively. There was an overall cosmetic satisfaction and improved performance of daily activities. There is limited and heterogeneous data on changes in pulmonary function, but such changes are clinically insignificant. The rate of complications was 41% of which 10% were serious, requiring an intervention or re-admission. The most common complications were hardware failure (8%), non-union (6%), and pneumothorax (5%). Discussion Scapulothoracic arthrodesis improved cosmesis, performance of daily activities and shoulder motion with no clinically significant loss of pulmonary function. The complication rate is high, and some are potentially serious.

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BROWN, J. C., J. L. ZELLER, S. M. SWANK, J. FURUMASU e S. L. WARATH. "Surgical and Functional Results of Spine Fusion in Spinal Muscular Atrophy". Spine 14, n. 7 (luglio 1989): 763–70. http://dx.doi.org/10.1097/00007632-198907000-00020.

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41

Alman, B. A., e H. K. W. Kim. "Pelvic obliquity after fusion of the spine in Duchenne muscular dystrophy". Journal of Bone and Joint Surgery. British volume 81-B, n. 5 (settembre 1999): 821–24. http://dx.doi.org/10.1302/0301-620x.81b5.0810821.

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42

Hell, Anna K., Lena Braunschweig, Konstantinos Tsaknakis, Urs von Deimling, Katja A. Lüders, Marina Hecker e Heiko M. Lorenz. "Children With Spinal Muscular Atrophy With Prior Growth-Friendly Spinal Implants Have Better Results After Definite Spinal Fusion in Comparison to Untreated Patients". Neurosurgery 87, n. 5 (14 marzo 2020): 910–17. http://dx.doi.org/10.1093/neuros/nyaa053.

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Abstract (sommario):

Abstract BACKGROUND Almost all children with spinal muscular atrophy (SMA) develop a scoliosis during childhood and adolescence. In the last decades, growth-friendly spinal implants have been established as an interim solution for these patients until definite spinal fusion can be performed. The effect of those implants on the final outcome has yet to be described. OBJECTIVE To assess the effect of prior growth-friendly spinal surgical treatment on the outcome after spinal fusion in SMA children in comparison to untreated SMA patients through the prospective study. METHODS A total of 28 SMA patients with (n = 14) and without (n = 14) prior surgical treatment with growth-friendly implants were included. Average surgical treatment prior to definite spinal fusion was 4.9 yr. Scoliotic curve angle, pelvic obliquity, spinal length, kyphosis, and lordosis were evaluated for children with prior treatment and before and after dorsal spondylodesis for all children. RESULTS The curve angle before definite spinal fusion averaged at 104° for SMA patients without prior treatment and 71° for patients with prior treatment. Spondylodesis reduced the scoliotic curve to 50° and 33°, respectively, which equals a correction of 52% vs 54%. Pelvic obliquity could be improved by spinal fusion in all patients with better results in the pretreated group. Results for spinal length, kyphosis, and lordosis were similar in both groups. CONCLUSION These data show the positive effect of prior growth-friendly surgical treatment on radiographic results of spinal fusion in children with SMA. Both scoliotic curve angles and pelvic obliquity showed significantly better values when patients had growth-friendly implants before definite spinal fusion.

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Saudeau, Étienne. "Les instrumentations rachidiennes sans fusion vertébrale dans les scolioses neuromusculaires". médecine/sciences 37 (novembre 2021): 36–39. http://dx.doi.org/10.1051/medsci/2021189.

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Less invasive techniques are now available to treat neuromuscular scoliosis efficiently. Rods can be implanted safely and at an early stage to correct and prevent further spine deformities. These techniques are particularly adapted to children with spinal muscular atrophy. The expansion of rods is possible magnetically or mechanically and enables to follow the spine growth timeline optimally. Of note, a risk a metallosis has been reported for some magnetic rods available on the market.

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Kaushal, Parul, e Subhash Bhukya. "Fusion of C2 and C3: embryological and clinical perspective". Anatomy Journal of Africa 7, n. 2 (19 settembre 2018): 1281–83. http://dx.doi.org/10.4314/aja.v7i2.177636.

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Skeletal abnormalities in the upper cervical region may result in severe neck ache, altered mobility, muscular weakness and sensory deficits. Fused cervical vertebrae (FCV) have been reported in literature, however cases with fused articular facets have scarcely been documented. During routine osteology demonstration, we came across fused axis and the 3rd cervical vertebra. There was complete fusion of the vertebral arch on the left side along with complete fusion between the inferior articular facet of C2 and superior articular facet of C3. There was partial fusion between the bodies of the vertebrae and the right half of the vertebral arch. Owing to the vital role of this region in various neck movements and spinal alignment, knowledge of such asymmetric variations in the upper cervical region, is of immense importance to orthopedicians, radiologists, neurosurgeons, anaesthetists, physiotherapists.Keywords: intubation, synostosis, axis, block vertebrae

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45

Salerni, Anthony A. "A minimally invasive approach for posterior lumbar interbody fusion". Neurosurgical Focus 13, n. 6 (dicembre 2002): 1–5. http://dx.doi.org/10.3171/foc.2002.13.6.7.

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Object Despite the technical innovations that posterior approaches for lumbar fusion have undergone, the goal of a significant reduction in the extent of dissection has remained elusive. Because extensive muscular dissection is related to both acute and chronic pain, a reproducible minimally invasive posterior approach to lumbar interbody fusion would have significant clinical value. The technical aspects of a minimally invasive approach to posterior lumbar inter-body fusion (μPLIF) with fixation involving tools developed for videoscopic discectomy will be described. Methods The technical description of this μPLIF procedure is based on experience gained in the first 38 cases. Outcomes categorized using a modified Macnab criteria are reported for 13 patients in whom 1 year or more of follow-up data were available. All procedures were completed. The section of anulus fibrosus that was exposed provided access for a thorough discectomy and endplate preparation. Outcome in 11 of the 13 patients in whom outcome data were available was excellent or good. Six of these patients returned to work between 3 and 12 weeks postoperatively. Two patients suffered complications related to insertion of the interbody device. Conclusions This procedure involves a reproducible technique that results in a construct that is radiographically identical to that which could be expected from any standard open procedure. The minimized muscular dissection results in a tremendous improvement in postoperative mobility. All complications in this series were related to the placement of femoral cortical allograft implants. The use of a modified cement restrictor should eliminate the risk of interbody device placement.

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Owens, Daniel J., Julien Messéant, Sophie Moog, Mark Viggars, Arnaud Ferry, Kamel Mamchaoui, Emmanuelle Lacène et al. "Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth". International Journal of Molecular Sciences 22, n. 1 (30 dicembre 2020): 306. http://dx.doi.org/10.3390/ijms22010306.

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Laminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosomal dominant Emery–Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B, and LMNA-related congenital muscular dystrophy (LMNA-CMD). Although the exact pathophysiological mechanisms responsible for LMNA-CMD are not yet understood, severe contracture and muscle atrophy suggest that mutations may impair skeletal muscle growth. Using human muscle stem cells (MuSCs) carrying LMNA-CMD mutations, we observe impaired myogenic fusion with disorganized cadherin/β catenin adhesion complexes. We show that skeletal muscle from Lmna-CMD mice is unable to hypertrophy in response to functional overload, due to defective fusion of activated MuSCs, defective protein synthesis and defective remodeling of the neuromuscular junction. Moreover, stretched myotubes and overloaded muscle fibers with LMNA-CMD mutations display aberrant mechanical regulation of the yes-associated protein (YAP). We also observe defects in MuSC activation and YAP signaling in muscle biopsies from LMNA-CMD patients. These phenotypes are not recapitulated in closely related but less severe EDMD models. In conclusion, combining studies in vitro, in vivo, and patient samples, we find that LMNA-CMD mutations interfere with mechanosignaling pathways in skeletal muscle, implicating A-type lamins in the regulation of skeletal muscle growth.

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Lau, Eugene Tze-Chun, e Pang Hung Wu. "Technical Note on Unilateral Biportal Lumbar Endoscopic Interbody Fusion". Surgical Techniques Development 11, n. 2 (15 agosto 2022): 71–89. http://dx.doi.org/10.3390/std11020007.

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Unilateral biportal lumbar endoscopic interbody fusion is a relatively new technique in the field of minimally invasive spine surgery. It combines the benefits of preservation of the normal anatomy of the spine with direct visualization of the decompression of neural elements and endplate preparation for fusion. This results in high union rates and excellent outcomes for patients with back pain and lumbar spinal stenosis from spondylolisthesis while reducing the risk of injuries to the neural elements, endplate fractures and the theoretical rate of adjacent segment disease from disruption of the musculature. In this paper, we describe the steps and technical pearls pertaining to this technique and methods to avoid common pitfalls and complications. In conclusion, this technique would be a good tool in the armamentarium of a spinal surgeon specializing in minimally invasive spinal surgery.

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Usha Kalyani, R., K. Perinbam, P. Jeyanthi, Naif Abdullah Al-Dhabi, Mariadhas Valan Arasu, Galal Ali Esmail, Young Ock Kim, Hyungsuk Kim e Hak-Jae Kim. "Fer1L5, a Dysferlin Homologue Present in Vesicles and Involved in C2C12 Myoblast Fusion and Membrane Repair". Biology 9, n. 11 (9 novembre 2020): 386. http://dx.doi.org/10.3390/biology9110386.

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Abstract (sommario):

Fer1L5 is a dysferlin and myoferlin related protein, which has been predicted to have a role in vesicle trafficking and muscle membrane fusion events. Mutations in dysferlin and otoferlin genes cause heredity diseases: muscular dystrophy and deafness in humans, respectively. Dysferlin is implicated in membrane repair. Myoferlin has a role in myogenesis. In this study, we investigated the role of the Fer1L5 protein during myoblast fusion and membrane repair. To study the functions of Fer1L5 we used confocal microscopy, biochemical fractionation, Western blot analysis and multiphoton laser wounding assay. By immunolabelling, Fer1L5 was detected in vesicular structures. By biochemical fractionation Fer1L5 was observed in low density vesicles. Our studies show that the membranes of Fer1L5 vesicles are non-resistant to non-ionic detergent. Partial co-staining of Fer1L5 with other two ferlin vesicles, respectively, was observed. Fer1L5 expression was highly detected at the fusion sites of two apposed C2C12 myoblast membranes and its expression level gradually increased at D2 and reached a maximum at day 4 before decreasing during further differentiation. Our studies showed that Fer1L5 has fusion defects during myoblast fusion and impaired membrane repair when the C2C12 cultures were incubated with inhibitory Fer1L5 antibodies. In C2C12 cells Fer1L5 vesicles are involved in two stages, the fusion of myoblasts and the formation of large myotubes. Fer1L5 also plays a role in membrane repair.

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Iqbal, Aqsa, Ulrike May, Stuart N. Prince, Tero A. H. Järvinen e Ahlke Heydemann. "Systemically Administered Homing Peptide Targets Dystrophic Lesions and Delivers Transforming Growth Factor-β (TGFβ) Inhibitor to Attenuate Murine Muscular Dystrophy Pathology". Pharmaceutics 13, n. 9 (18 settembre 2021): 1506. http://dx.doi.org/10.3390/pharmaceutics13091506.

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Abstract (sommario):

Muscular dystrophy is a progressively worsening and lethal disease, where accumulation of functionality-impairing fibrosis plays a key pathogenic role. Transforming growth factor-β1 (TGFβ1) is a central signaling molecule in the development of fibrosis in muscular dystrophic humans and mice. Inhibition of TGFβ1 has proven beneficial in mouse models of muscular dystrophy, but the global strategies of TGFβ1 inhibition produce significant detrimental side effects. Here, we investigated whether murine muscular dystrophy lesion-specific inhibition of TGFβ1 signaling by the targeted delivery of therapeutic decorin (a natural TGFβ inhibitor) by a vascular homing peptide CAR (CARSKNKDC) would reduce skeletal muscle fibrosis and pathology and increase functional characteristics of skeletal muscle. We demonstrate that CAR peptide homes to dystrophic lesions with specificity in two muscular dystrophy models. Recombinant fusion protein consisting of CAR peptide and decorin homes selectively to sites of skeletal muscle damage in mdxDBA2/J and gamma-sarcoglycan deficient DBA2/J mice. This targeted delivery reduced TGFβ1 signaling as demonstrated by reduced nuclear pSMAD staining. Three weeks of targeted decorin treatment decreased both membrane permeability and fibrosis and improved skeletal muscle function in comparison to control treatments in the mdxD2 mice. These results show that selective delivery of decorin to the sites of skeletal muscle damage attenuates the progression of murine muscular dystrophy.

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Thacker, M., JHP Hui, HK Wong, A. Chatterjee e EH Lee. "Spinal Fusion and Instrumentation for Paediatric Neuromuscular Scoliosis: Retrospective Review". Journal of Orthopaedic Surgery 10, n. 2 (dicembre 2002): 144–51. http://dx.doi.org/10.1177/230949900201000207.

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Abstract (sommario):

Purpose. A retrospective study was conducted to review the surgical results among 24 patients with neuromuscular scoliosis, who were treated with spinal instrumentation and fusion at the Department of Orthopaedic Surgery, National University Hospital, Singapore between March 1993 and December 1998. Methods. We examined complete hospital records of patients who had scoliosis due to aetiologies such as spinal muscular atrophy, cerebral palsy, Duchenne muscular dystrophy, and congenital myopathies. The mean age of patients was 10.6 years (range, 6–14 years) and the mean follow-up duration was 5.5 years. Results. 18 patients had posterior surgery alone, whereas 4 had an anterior release with posterior instrumentation, and 2 had an anterior fusion with instrumentation. The mean length of stay in the intensive care unit was 2 days and the mean duration of hospital stay was 11 days. The mean correction in scoliosis angle ranged from 75.6° to 25.7°. All patients could at least sit without support postoperatively. The one-second forced expiratory volume and forced vital capacity were, in general, maintained throughout the follow-up. There were 2 major complications and 2 minor ones; these were pseudarthrosis with rod breakage requiring revision, deep infection necessitating hardware removal, superficial infection that responded to antibiotics, and urinary tract infection requiring 3 weeks of antibiotic treatment. There were no deaths or any neurological complications after instrumentation. Conclusion. Spinal stabilisation and fusion in children with neuromuscular scoliosis is a safe and effective treatment modality. The effect of surgery on long-term pulmonary function, however, remains controversial and needs to be addressed.

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