{"title":"Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review.","authors":"Xuelian Hong, Fengfeng Jiang, Liuqing Wang","doi":"10.1186/s12891-024-08067-9","DOIUrl":"10.1186/s12891-024-08067-9","url":null,"abstract":"<p><strong>Background: </strong>Limb-girdle muscular dystrophy (LGMD) is a group of hereditary myopathies. This group of diseases is highly heterogeneous in terms of genetic mode, age at onset, and disease progression; therefore, they are easily misdiagnosed and missed in clinical practice.</p><p><strong>Case presentation: </strong>We describe a case of adult late-onset LGMD R1/2A in a 56-year-old female patient. The patient experienced elevated creatine kinase levels lasting 5 years, muscle soreness of the limbs lasting 4 years, and exacerbation of limb fatigue lasting 1 month. Early in the course of the disease, the patient experienced severe bradycardia and was later diagnosed with sick sinus syndrome. In addition to cardiac involvement, our patient also had primary hyperparathyroidism during the disease course, which was confirmed pathologically as a parathyroid adenoma. A biopsy of the left biceps showed pathological manifestations of mild myogenic damage. All-exon gene sequencing confirmed the diagnosis of LGMD R1/2A, and she was treated with vitamin E, vitamin B2, and coenzyme Q. Due to atrial fibrillation secondary to sick sinus syndrome, a pacemaker was implanted.</p><p><strong>Conclusion: </strong>The patient in this case study had adult late-onset LGMD R1/2A with cardiac involvement and functional parathyroid adenoma, which is rare and clinically significant. Therefore, early clinical identification, diagnosis, as well as targeted and active treatments can improve the prognosis of such patients.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"961"},"PeriodicalIF":2.2,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Low geriatric nutritional risk index is associated with osteosarcopenia in older patients with type 2 diabetes mellitus.","authors":"Xiaoye Duan, Jagadish K Chhetri, Lina Sun, Zhijing Mu, Junling Fu, Shuangling Xiu","doi":"10.1186/s12891-024-08091-9","DOIUrl":"10.1186/s12891-024-08091-9","url":null,"abstract":"<p><strong>Background: </strong>The association between the geriatric nutritional risk index (GNRI) and osteosarcopenia in older adults with type 2 diabetes mellitus (T2DM) is not clear.</p><p><strong>Methods: </strong>A total of 573 individuals with T2DM were included in this cross-sectional study. Osteosarcopenia was defined as the presence of both osteoporosis and sarcopenia. Appendicular skeletal muscle mass and bone mineral density (BMD) was measured by dual energy X-ray absorptiometry to diagnose sarcopenia and osteoporosis. Multivariate analyses were used to assess the association between Geriatric Nutritional Risk Index (GNRI) and osteosarcopenia.</p><p><strong>Results: </strong>The patients were divided into four groups: robust (n = 367), osteoporosis alone (n = 154), sarcopenia alone (n = 29), and osteosarcopenia (n = 23). The GNRI was the lowest in osteosarcopenia group and was positively correlated with skeletal muscle index (SMI) (r = 0.122, p = 0.004), grip strength (r = 0.154, p < 0.001), gait speed (r = 0.123, p = 0.004), and BMD of lumbar spine 2-4, femoral neck, and total hip (r = 0.137, p = 0.002; r = 0.096, p = 0.028; r = 0.086, p = 0.049, respectively). In the logistic regression model low GNRI was significantly associated with an increased risk of osteosarcopenia (adjusted OR, 4.164; 95% CI, 1.283-13.514, p = 0.018). Age provided a discriminatory effect of osteosarcopenia with an area under the curve (AUC) of 0.764. When GNRI values were added to the model, the value of the ROC curve was further improved, with an AUC of 0.842.</p><p><strong>Conclusion: </strong>Low GNRI was associated with an increased risk of osteosarcopenia in older adults with T2DM. Comprehensive clinical evaluation of nutritional status by a simple tool such as GNRI might be helpful for early identification of those at high risk for osteosarcopenia in older diabetic individuals.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"959"},"PeriodicalIF":2.2,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dong Li, Rong Zhou, Chunjian Song, Jianhua Lu, Jun Lu
{"title":"Application of 3D printing technology in preoperative planning and treatment of proximal humerus fractures: a retrospective study.","authors":"Dong Li, Rong Zhou, Chunjian Song, Jianhua Lu, Jun Lu","doi":"10.1186/s12891-024-08060-2","DOIUrl":"10.1186/s12891-024-08060-2","url":null,"abstract":"<p><strong>Background: </strong>The application of 3D printing technology in preoperative planning and treatment of these fractures has shown promise in improving surgical efficiency, trauma, and patient outcomes. This study aims to demonstrate the advantages of applying 3D printing technology to the treatment of proximal humeral fractures by comparing cases selected for 3D printing with a control group (conventional surgery group), in order to further promote the application of 3D technology in a broader range of trauma treatments.</p><p><strong>Methods: </strong>This study conducted the clinical data of 51 patients with proximal humeral fractures. Inclusion criteria encompassed patients diagnosed with Neer II and III type proximal humerus fractures. Among them, 24 patients underwent traditional surgery, while 27 patients underwent surgery with 3D printing technology support. Intraoperative parameters, functional outcomes, radiographic results at 6 months, and pain scores were collected and analyzed.</p><p><strong>Results: </strong>The 3D printing group demonstrated significantly reduced total surgery time compared to the traditional surgery group (P < 0.05). Implant placement accuracy was significantly higher in the 3D printing group compared to the traditional surgery group (P < 0.05). Functional outcomes at 6 months favored the 3D printing group, with higher Constant-Murley Score and lower Disability of the Arm, Shoulder, and Hand (DASH) Score compared to the traditional surgery group (P < 0.05). Additionally, the 3D printing group showed a significantly lower prevalence of heterotopic ossification compared to the traditional surgery group (P < 0.05). Preoperative and early postoperative pain scores were significantly lower in the 3D printing group compared to the traditional surgery group (P < 0.05).</p><p><strong>Conclusion: </strong>The integration of 3D printing technology into the preoperative planning and treatment of complex proximal humerus fractures demonstrated significant advantages in surgical efficiency, functional outcomes, radiographic prognosis, and pain management.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"962"},"PeriodicalIF":2.2,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142725640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of transdermal buprenorphine patch combined with celecoxib on improving shoulder pain and function of patients with primary adhesive shoulder capsulitis.","authors":"Qingbang Xu, Xiaolan Zheng, Ling Hu, Jing Zheng","doi":"10.1186/s12891-024-07992-z","DOIUrl":"10.1186/s12891-024-07992-z","url":null,"abstract":"<p><strong>Background: </strong>One of the main purposes of clinical treatment for adhesive shoulder capsulitis is pain relief. However, patients often fail to achieve a satisfactory therapeutic response. This study aims to evaluate the impact of a combination therapy involving buprenorphine transdermal patch and celecoxib capsules on improving shoulder pain and function of patients with primary adhesive shoulder capsulitis (ASC).</p><p><strong>Methods: </strong>This retrospective observational study consecutively enrolled patients with primary ASC from our hospital Outpatient Department between April 2018 and June 2020. The primary outcome was pain evaluated using the visual analog scale (VAS) score. Secondary outcomes included functional improvement evaluated using the Constant-Murley Shoulder (CMS) score, as well as satisfaction and adverse reactions.</p><p><strong>Results: </strong>A total of 198 patients were enrolled and categorized into the celecoxib capsule group (n = 72), buprenorphine transdermal patch group (n = 65), and buprenorphine transdermal patch + celecoxib capsule group (n = 61). Patients treated with buprenorphine transdermal patch + celecoxib capsule have the lowest VAS scores and highest CMS scores at 1, 4, 8 and 12 weeks after treatment (all P < 0.001). Furthermore, there were no significant differences in adverse reactions (P = 0.296) among the three groups. The satisfaction of patient with percutaneous buprenorphine transdermal patch + celecoxib capsule was significantly higher than patients with celecoxib capsules or percutaneous buprenorphine transdermal patch (both P < 0.001).</p><p><strong>Conclusion: </strong>The combination of buprenorphine transdermal patch with celecoxib capsule may result in good analgesic efficacy and functional improvement in patients with primary ASC.</p><p><strong>Trial registration: </strong>Not applicable.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"953"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparison between microendoscopic laminectomy and open posterior decompression surgery for two-level lumbar spinal stenosis: a multicenter retrospective cohort study.","authors":"Hideki Nakamoto, Junya Miyahara, Hiroyuki Nakarai, So Kato, Yuki Taniguchi, Naohiro Kawamura, Akiro Higashikawa, Yujiro Takeshita, Masayoshi Fukushima, Takashi Ono, Nobuhiro Hara, Hiroki Iwai, Sakae Tanaka, Yasushi Oshima","doi":"10.1186/s12891-024-08090-w","DOIUrl":"10.1186/s12891-024-08090-w","url":null,"abstract":"<p><strong>Background: </strong>Excellent surgical outcomes of microendoscopic laminectomy (MEL) have been reported for patients with lumbar spinal canal stenosis (LSCS). However, few reports have directly compared MEL with open laminectomy for multi-level LSCS. This study conducted a comparative analysis of patient-reported outcomes (PROs) and perioperative complications in patients undergoing two-level posterior decompression for LSCS by MEL versus open laminectomy.</p><p><strong>Methods: </strong>This multicenter retrospective cohort study involved prospectively registered patients who underwent two-level posterior lumbar decompression surgery for LSCS at one of eight high-volume spine centers between April 2017 and February 2020. Chart sheets were used to prospectively evaluate demographic data, including diagnosis, operative procedure, operation time, estimated blood loss, and perioperative complications. The PROs evaluated were the numerical rating scale (NRS) score for lower back pain and leg pain, 12-item Short Form Health Survey (SF-12) score, EuroQol 5-Dimension (EQ-5D) score, Oswestry Disability Index (ODI) score, and patient satisfaction with the treatment.</p><p><strong>Results: </strong>Of the 882 patients enrolled, 410 underwent MEL (MEL group) and 472 underwent open decompression (open group). A total of 667 (75.6%) patients completed the 1-year follow-up. Intraoperative blood loss was significantly lower in the MEL group than in the open group. The complication rate was comparable (12.4% in MEL group, 12.5% in open group). Although the revision rate did not differ significantly, the incidence of surgical site infection (SSI) was markedly lower in the MEL group (0.0% in MEL group, 1.3% in open group). Propensity score matching was employed to compare 333 patients who underwent MEL with 333 patients who underwent open laminectomy. Intraoperative blood loss was significantly lower in the matched MEL group than in the matched open group. The incidence of SSI was markedly lower in the matched MEL group (0.0% in matched MEL group, 1.2% in matched open group). No significant differences in the preoperative and postoperative values of the PROs or patient satisfaction were observed between the two groups.</p><p><strong>Conclusions: </strong>MEL required an equivalent operating time and resulted in less intraoperative blood loss compared with laminectomy in two-level procedures. The incidence of SSI was significantly lower in the MEL group.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"955"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Optimal biomechanical choice of implant placement in various pilon fracture types: a finite element study.","authors":"Peizhao Liu, Xianzhong Mei, Zhixiang Wang, Feng Xu, Xianhua Cai, Kangquan Shou, Shijun Wei","doi":"10.1186/s12891-024-08076-8","DOIUrl":"10.1186/s12891-024-08076-8","url":null,"abstract":"<p><strong>Background: </strong>The research on the biomechanical characteristics of individual implant placement for pilon fractures based on the different initial direction of fracture displacement is still insufficient. This study's aim is to compare the stress distribution in bones and implants with various pilon fracture types.</p><p><strong>Methods: </strong>Varus, valgus, dorsiflexion, and plantarflexion type fractures were categorized as type I, II, III, and IV, respectively. The buttress plate was placed medially in subtypes I<sub>A</sub> and II<sub>B,</sub> whereas it was placed anterolaterally in subtypes I<sub>B</sub> and II<sub>A</sub>; The anterior or posterior buttress plate was utilized in subtypes III<sub>A</sub> and IV<sub>A,</sub> the lag screws were applied in subtypes III<sub>B</sub> and IV<sub>B</sub>. The maximum equivalent stress of tibia (TI-S<sub>max</sub>) and implants (IF-S<sub>max</sub>), stress of fracture fragments (S<sub>fe</sub>), and axial displacement values of the fracture fragments (AD<sub>fe</sub>) in each subtype were analyzed when the ankle was in a neutral position, 15° of varus and valgus in types I and II, 15° of dorsiflexion and plantarflexion in types III and IV.</p><p><strong>Results: </strong>Under the same axial stress loading conditions, TI-S<sub>max</sub>, S<sub>fe</sub>, AD<sub>fe</sub> of subtypes I<sub>A</sub> and II<sub>A</sub> were significantly lower than subtypes I<sub>B</sub> and II<sub>B</sub>, while IF-S<sub>max</sub> of subtypes I<sub>A</sub> and II<sub>A</sub> were obviously larger than subtypes I<sub>B</sub> and II<sub>B</sub>. Additionally, TI-S<sub>max,</sub> S<sub>fe</sub>, AD<sub>fe</sub> of subtypes III<sub>A</sub> and IV<sub>A</sub> were considerably lower as IF-S<sub>max</sub> met expectations compared to subtypes III<sub>B</sub> and IV<sub>B</sub>.</p><p><strong>Conclusion: </strong>Based on these results, when making decisions for open reduction and internal fixation in various pilon fractures, the choice and placement of the implant can be recommended as follows: the medial buttress plate for varus types; the anterolateral plate for valgus types; the anterior plate for dorsiflexion types; the posterior plate for plantarflexion types.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"950"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Musculoskeletal disorders among bank workers: a systematic review and meta-analysis.","authors":"Hassan Marzban, Ehsan Rezaei, Fatemeh Shahmahmoudi, Zahra Zangiabadi, Ali Sahebi, Faezeh Makki","doi":"10.1186/s12891-024-08077-7","DOIUrl":"10.1186/s12891-024-08077-7","url":null,"abstract":"<p><strong>Purpose: </strong>Bank employees are among the workers who are at a high risk of suffering from musculoskeletal disorders (MSDs) due to inactivity and prolonged sitting as well as static and poor postures. This study was conducted with the aim of systematic review and meta-analysis of the prevalence of MSDs among bank employees.</p><p><strong>Materials and methods: </strong>This review followed the PRISMA guidelines and its protocol is registered in PROSPERO with the code CRD42024509728. Using several databases including PubMed, Scopus, Web of Science, Science Direct, SID, ISC, and Google Scholar, related studies were extracted without time limit until February 7th 2024. Simple random effects model and I2 index were used respectively for performing meta-analysis and determining heterogeneity between studies. Finally, data analysis was done using the software STATA version 14.</p><p><strong>Results: </strong>After conducting the initial search, 1837 studies were identified in the information sources. After careful consideration, 28 studies were included in meta-analysis. The meta-analysis results revealed that 67.84% (95% CI: 61.21-74.47, I2 = 97.4%, P < 0.001) of bank employees suffer from MSDs. These disorders affect various areas of the body with the following prevalence rates in the low back (49.19%), neck (46.11%), upper back (42.08%), shoulder (34.88%), hand (25.40%), hip/thigh (19.29%), knee (17.86%), ankle/foot (16.37%), and elbow (12.53%).</p><p><strong>Conclusions: </strong>The high prevalence of MSDs among bank employees is a concern, especially due to their sedentary behavior. It is important to increase awareness among bank employees about the risk factors of MSDs and design interventions to reduce their sitting time. Additionally, adjusting workstations according to ergonomic recommendations can help prevent MSDs in this occupational group.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"951"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Guangyu Li, Yiliang Cui, Xingyi Hua, Fanxiao Liu, Di Li, Jingtao Lu, Shuang G Yan
{"title":"Management of extra-articular fracture of the distal humerus with the upside-down use of PHILOS plates in front of the humerus: a retrospective study of 20 patients after 28.3 months.","authors":"Guangyu Li, Yiliang Cui, Xingyi Hua, Fanxiao Liu, Di Li, Jingtao Lu, Shuang G Yan","doi":"10.1186/s12891-024-08098-2","DOIUrl":"10.1186/s12891-024-08098-2","url":null,"abstract":"<p><strong>Background: </strong>Extra-articular distal humerus locking plates (EADHPs) have been widely employed for the treatment of extra-articular fractures of the distal humerus, but interference with the radial nerve and poor fastening of distal fracture fragments by screws remain. The aim of this study is to evaluate the clinical and imaging effects of the anterolateral approach in the treatment of extra-articular fractures of the distal humerus with the upside-down use of proximal humerus internal locking system (PHILOS) plates in front of the humerus.</p><p><strong>Method: </strong>A retrospective analysis (10/2018-10/2022) was conducted on the clinical data of patients with extra-articular fractures of the distal humerus treated with the upside-down use of the PHILOS via the anterolateral approach. The fracture union time, range of motion of the elbow joint, Mayo elbow performance score (MEPS), Disabilities of the Arm, Shoulder and Hand (DASH) score, Visual Analogue Scale (VAS) score for pain and incidence of complications were analysed at the final follow-up.</p><p><strong>Results: </strong>A total of 20 patients (11 males, 9 females) with a mean age of 40.3 ± 17.0 years (16-87 years) and a follow-up of 28.3 ± 10.8 months (15-53 months) were evaluated. The average number of screws in the distal humeral fragment was 5.7 ± 0.6. The average fracture union time was 23.3 ± 3.3 weeks. The mean longest and shortest cortical lengths from the coronoid fossa were 87.3 ± 13.4 mm and 47.9 ± 9.4 mm, respectively. At the final follow-up, the average range of elbow motion was - 3.3 ± 2.6° of extension and 135.1 ± 3.1° of flexion. The mean MEPS score was 97.8 ± 6.0. The mean DASH score was 1.25 ± 3.6 (range, 0-15.9), and the mean VAS score was 0.1 ± 0.4 (range, 0-2). None of the patients developed serious complications that required reoperation.</p><p><strong>Conclusions: </strong>The upside-down use of PHILOS plates in front of the humerus has good results in the treatment of extra-articular fractures of the distal humerus, so it is an alternative for fixing distal humerus extra-articular diaphyseal fractures when EADHPs are not suitable or preferred, especially for smaller distal fracture fragments, and reducing interference with the radial nerve.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"952"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Screening and validation of key genes associated with osteoarthritis.","authors":"MingLiu He, QiFan Yu, Han Xiao, HengDa Dong, DaZhuang Li, WenGuang Gu","doi":"10.1186/s12891-024-08015-7","DOIUrl":"10.1186/s12891-024-08015-7","url":null,"abstract":"<p><strong>Background: </strong>Osteoarthritis is recognized as a common geriatric condition characterized by irregular chronic pain. Its prevalence is steadily increasing, posing significant challenges to global public health, while some studies indicate a trend towards younger individuals being affected. This condition severely impacts patients' quality of life.</p><p><strong>Methods: </strong>Using the Gene Expression Omnibus (GEO) database, we downloaded datasets GSE114007, GSE169077, and GSE206848. We utilized R software to screen and confirm differentially expressed genes (DEGs) related to the development of osteoarthritis. A cross-analysis of the three datasets was conducted, with the least overlapping dataset, GSE206848, selected as the validation set. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed on the DEGs from GSE114007 and GSE169077. Weighted Gene Co-Expression Network Analysis (WGCNA) was employed to identify modules closely associated with osteoarthritis, and genes from these intersecting modules were entered into the STRING database to construct Protein-Protein Interaction Networks. The top ten genes by connectivity were identified and validated using GSE206848. Key genes were identified and preliminarily validated using Quantitative Real-Time PCR (QPCR). Subsequent validation of related genes was carried out through Western Blot (WB) analysis.</p><p><strong>Results: </strong>Differentially expressed genes were identified from the GSE114007 and GSE169077 datasets and validated in the GSE206848 dataset, with ANGPTL4 selected as the key gene. QPCR results indicated a significant difference in ANGPTL4 expression levels between normal and osteoarthritic chondrocytes. Western Blot analysis confirmed a significant difference in ANGPTL4 protein expression between normal and osteoarthritic chondrocytes.</p><p><strong>Conclusion: </strong>Based on the experimental findings, ANGPTL4 appears to be a potential key gene in osteoarthritis.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"954"},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exercise-based telerehabilitation in chronic low back pain - a scoping review.","authors":"Jenny Sivertsson, Ninni Sernert, Kristina Åhlund","doi":"10.1186/s12891-024-07952-7","DOIUrl":"10.1186/s12891-024-07952-7","url":null,"abstract":"<p><strong>Background: </strong>Low back pain is a major global health problem. Physiotherapy involving exercises is considered first-line treatment. In recent years digital tools including telerehabilitation have increased, but the interventions are diverse. The aim of this study was to map how telerehabilitation approaches are used in studies evaluating exercise-based rehabilitation in patients with chronic low back pain.</p><p><strong>Methods: </strong>A systematic literature search was conducted in PubMed, Cinahl and Cochrane Central between January 2017 and January 2024 for original studies on adults, 18 years or older, with chronic low back pain who received exercise-based telerehabilitation.</p><p><strong>Results: </strong>The database search resulted in 1019 articles. Out of 37 full texts that were screened 28 articles were included in the analysis. The included studies showed a wide variation regarding technological solutions, interventions and outcome measures. The exercise-based telerehabilitation was usually delivered asynchronously via a smartphone application. The most common clinical outcome measure was pain and disability/physical function. Telerehabilitation compared to conventional exercise therapy showed similar clinical improvements.</p><p><strong>Conclusions: </strong>This scoping review confirms the heterogeneity within this research area but also contributes by mapping and demonstrating some knowledge gaps in the literature. Further research focusing on synchronous and group interventions are needed. The new technologies described in the included studies provide added value through functional improvements and task redesign.</p><p><strong>Trial registration: </strong>OSF https//doi.org/10.17605/OSF.IO/EMKCG.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"25 1","pages":"948"},"PeriodicalIF":2.2,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}