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Personalized Treatment for Musculoskeletal Diseases
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Personalized Treatment for Musculoskeletal Diseases

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy and Drug Delivery".

Deadline for manuscript submissions: 15 January 2025 | Viewed by 9357

Special Issue Editor

Dr. Andrea Bernetti

E-Mail Website
Guest Editor
Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento, 73100 Lecce, Italy
Interests: rehabilitation; osteoarthritis; injection; viscosupplementation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, the integration of advanced technologies and interdisciplinary research has revolutionized our comprehension of musculoskeletal diseases and treatment. These breakthroughs have empowered us to offer precise, personalized healthcare strategies for individuals grappling with musculoskeletal conditions. This Special Issue of Journal of Personalized Medicine serves as a beacon to illuminate the current state of scientific knowledge and spotlight the latest advancements in the realm of musculoskeletal healthcare. Our collection of studies spans a spectrum of topics, ranging from fundamental research elucidating gene-musculoskeletal interactions to clinical and population-based investigations. Through these scientific strides, we anticipate that the field of musculoskeletal medicine will continue its journey toward tailored, patient-centric care that optimizes health and well-being. This Special Issue invites experts and researchers to contribute their insights and be part of this transformative journey in musculoskeletal healthcare.

Dr. Andrea Bernetti
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • musculoskeletal disorders
  • personalized medicine
  • injection therapies
  • physical medicine and rehabilitation
  • physical agents
  • regenerative medicine

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (5 papers)

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Research

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13 pages, 2670 KiB  
Article
Elucidating the Impact of Deleterious Mutations on IGHG1 and Their Association with Huntington’s Disease
by Alaa Shafie, Amal Adnan Ashour, Farah Anjum, Anas Shamsi and Md. Imtaiyaz Hassan
J. Pers. Med. 2024, 14(4), 380; https://doi.org/10.3390/jpm14040380 - 1 Apr 2024
Cited by 1 | Viewed by 1432
Abstract
Huntington’s disease (HD) is a chronic, inherited neurodegenerative condition marked by chorea, dementia, and changes in personality. The primary cause of HD is a mutation characterized by the expansion of a triplet repeat (CAG) within the huntingtin gene located on chromosome 4. Despite [...] Read more.
Huntington’s disease (HD) is a chronic, inherited neurodegenerative condition marked by chorea, dementia, and changes in personality. The primary cause of HD is a mutation characterized by the expansion of a triplet repeat (CAG) within the huntingtin gene located on chromosome 4. Despite substantial progress in elucidating the molecular and cellular mechanisms of HD, an effective treatment for this disorder is not available so far. In recent years, researchers have been interested in studying cerebrospinal fluid (CSF) as a source of biomarkers that could aid in the diagnosis and therapeutic development of this disorder. Immunoglobulin heavy constant gamma 1 (IGHG1) is one of the CSF proteins found to increase significantly in HD. Considering this, it is reasonable to study the potential involvement of deleterious mutations in IGHG1 in the pathogenesis of this disorder. In this study, we explored the potential impact of deleterious mutations on IGHG1 and their subsequent association with HD. We evaluated 126 single-point amino acid substitutions for their impact on the structure and functionality of the IGHG1 protein while exploiting multiple computational resources such as SIFT, PolyPhen-2, FATHMM, SNPs&Go mCSM, DynaMut2, MAESTROweb, PremPS, MutPred2, and PhD-SNP. The sequence- and structure-based tools highlighted 10 amino acid substitutions that were deleterious and destabilizing. Subsequently, out of these 10 mutations, eight variants (Y32C, Y32D, P34S, V39E, C83R, C83Y, V85M, and H87Q) were identified as pathogenic by disease phenotype predictors. Finally, two pathogenic variants (Y32C and P34S) were found to reduce the solubility of the protein, suggesting their propensity to form protein aggregates. These variants also exhibited higher residual frustration within the protein structure. Considering these findings, the study hypothesized that the identified variants of IGHG1 may compromise its function and potentially contribute to HD pathogenesis. Full article
(This article belongs to the Special Issue Personalized Treatment for Musculoskeletal Diseases)
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12 pages, 4925 KiB  
Article
Medullary-Sparing Antibiotic Cement Articulating Spacer Reduces the Rate of Mechanical Complications in Advanced Septic Hip Arthritis: A Retrospective Cohort Study
by Chun-Yen Chen, Chin-Ping Lin, Chun-Hao Tsai, Hui-Yi Chen, Hsien-Te Chen and Tsung-Li Lin
J. Pers. Med. 2024, 14(2), 162; https://doi.org/10.3390/jpm14020162 - 31 Jan 2024
Viewed by 1236
Abstract
Antibiotic cement articulating spacers eradicate infection during a two-stage revision for advanced septic hip arthritis (ASHA); however, mechanical complications have been reported. We hypothesized that the rate of mechanical complications would be lower in medullary-sparing (MS) than in non-medullary-sparing (n-MS) articulating spacers. A [...] Read more.
Antibiotic cement articulating spacers eradicate infection during a two-stage revision for advanced septic hip arthritis (ASHA); however, mechanical complications have been reported. We hypothesized that the rate of mechanical complications would be lower in medullary-sparing (MS) than in non-medullary-sparing (n-MS) articulating spacers. A retrospective study of ASHA using n-MS or MS spacers was conducted between 1999 and 2019. The rate of mechanical complications and reoperation and risk factors for mechanical complications were analyzed. The cohort included 71 n-MS and 36 MS spacers. All patients were followed up for 2 years. The rate of spacer dislocation was lower in MS (0%) than in n-MS spacers (14.1%; p = 0.014). The reoperation rate for mechanical complications was lower in MS (0%) than in n-MS spacers (12.7%; p = 0.019). The rate of a diaphyseal stem during reimplantation was lower in MS (0%) than in n-MS spacers (19.4%; p = 0.002). The identified risk factors for n-MS spacer dislocation were postoperative under-restored femoral head diameter ≥3 mm, femoral offset ≥3 mm, and surgical volume (≤6 resection arthroplasties per year). Both spacers controlled infection. However, MS spacers had a lower spacer dislocation and reoperation rate and avoided the diaphyseal stem during reimplantation. We recommend using MS spacers to restore native femoral head diameter and femoral offset when ASHA is treated by surgeons with lower surgical volumes. Full article
(This article belongs to the Special Issue Personalized Treatment for Musculoskeletal Diseases)
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9 pages, 220 KiB  
Article
Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy
by Lize F. D. van Vulpen, Simon C. Mastbergen, Wouter Foppen, Kathelijn Fischer, Floris P. J. G. Lafeber and Roger E. G. Schutgens
J. Pers. Med. 2024, 14(2), 145; https://doi.org/10.3390/jpm14020145 - 28 Jan 2024
Cited by 1 | Viewed by 1256
Abstract
The treatment landscape for haemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by haemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association [...] Read more.
The treatment landscape for haemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by haemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association of HFE mutations or HMOX1 polymorphisms affecting iron/heme handling with radiographic joint damage in 252 haemophilia patients (severe and moderate). Although iron levels and transferrin saturation were significantly increased in the 95 patients with an HFE mutation, neither carrying this mutation nor the HMOX1 polymorphism was associated with radiographic joint damage, and the same was true after adjustment for well-known factors associated with arthropathy. In conclusion, this study does not support the hypothesis that HFE mutations or HMOX1 polymorphisms can be used to predict the development of haemophilic arthropathy. Full article
(This article belongs to the Special Issue Personalized Treatment for Musculoskeletal Diseases)

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12 pages, 8994 KiB  
Case Report
Reconstruction of an Extensive Segmental Radial Shaft Bone Defect by Vascularized 3D-Printed Graft Cage
by Philipp Mommsen, Vincent März, Nicco Krezdorn, Gökmen Aktas, Stephan Sehmisch, Peter Maria Vogt, Tobias Großner and Tarek Omar Pacha
J. Pers. Med. 2024, 14(2), 178; https://doi.org/10.3390/jpm14020178 - 4 Feb 2024
Cited by 3 | Viewed by 2101
Abstract
We report here a 46-year-old male patient with a 14 cm segmental bone defect of the radial shaft after third degree open infected fracture caused by a shrapnel injury. The patient underwent fixed-angle plate osteosynthesis and bone reconstruction of the radial shaft by [...] Read more.
We report here a 46-year-old male patient with a 14 cm segmental bone defect of the radial shaft after third degree open infected fracture caused by a shrapnel injury. The patient underwent fixed-angle plate osteosynthesis and bone reconstruction of the radial shaft by a vascularized 3D-printed graft cage, including plastic coverage with a latissimus dorsi flap and an additional central vascular pedicle. Bony reconstruction of segmental defects still represents a major challenge in musculo-skeletal surgery. Thereby, 3D-printed scaffolds or graft cages display a new treatment option for bone restoration. As missing vascularization sets the limits for the treatment of large-volume bone defects by 3D-printed scaffolds, in the present case, we firstly describe the reconstruction of an extensive radial shaft bone defect by using a graft cage with additional vascularization. Full article
(This article belongs to the Special Issue Personalized Treatment for Musculoskeletal Diseases)
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22 pages, 1979 KiB  
Systematic Review
Safety and Efficacy of Ultrasound-Guided Perineural Hydrodissection as a Minimally Invasive Treatment in Carpal Tunnel Syndrome: A Systematic Review
by Valerio Sveva, Giacomo Farì, Annatonia Fai, Alessio Savina, Mattia Giuseppe Viva, Francesco Agostini, Maurizio Ranieri, Marisa Megna, Massimiliano Mangone, Marco Paoloni and Andrea Bernetti
J. Pers. Med. 2024, 14(2), 154; https://doi.org/10.3390/jpm14020154 - 30 Jan 2024
Cited by 3 | Viewed by 2879
Abstract
Ultrasound-guided perineural hydrodissection (HD) is a novel technique that has been found to be effective in providing mechanical release of perineural adhesions and decompression of the nerve, reducing inflammation and edema and restoring its physiological function. It has a significant impact on chronic [...] Read more.
Ultrasound-guided perineural hydrodissection (HD) is a novel technique that has been found to be effective in providing mechanical release of perineural adhesions and decompression of the nerve, reducing inflammation and edema and restoring its physiological function. It has a significant impact on chronic neuropathic pain (20 ± 4 weeks with VAS < 5 or VAS diminished by 2 points after the procedure). Carpal tunnel syndrome (CTS) is a common entrapment mononeuropathy, and its distribution is typically innervated by the median nerve. Patients with mild or moderate CTS may benefit from nonsurgical treatments or conservative therapies. This review was conducted following the preferred reporting items for systematic reviews and meta-analysis (PRISMA) statement guidelines. Four investigators assessed each title, abstract, and full-text article for eligibility, with disagreements being resolved by consensus with two experienced investigators. The qualitative assessment of the studies was carried out using the modified Oxford quality scoring system, also known as the modified Jadad score. Furthermore, risk of possible biases was assessed using the Cochrane collaboration tool. The results of this review suggest that US-guided HD is an innovative, effective, well-tolerated, and safe technique (11 out of 923 patients had collateral or side effects after the procedure). However, further studies comparing all drugs and with a larger sample population are required to determine the most effective substance. Full article
(This article belongs to the Special Issue Personalized Treatment for Musculoskeletal Diseases)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: IMMEDIATE EFFECTS OF THE MANDIBULAR MUSCULAR ENERGY TECHNIQUE IN PATIENTS WITH TEMPOROMANDIBULAR DISORDERS: RANDOMIZED CONTROLLED CLINICAL TRIAL.
Author: López-Valverde
Highlights: - We investigated the measurement of pain in various muscles and mandibular mobility in relation to pain threshold. - We evaluated the immediate effect of the mandibular muscle energy technique on pain threshold in the upper trapezius, masseter, external pterygoid and digastric trigger points. and the opening and left and right lateral movements of the mandible.

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