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Critical Reviews in Eukaryotic Gene... 2024Dupuytren's disease is a common fibroproliferative disease that can result in debilitating hand deformities. Partial correction and return of deformity are common with... (Review)
Review
Dupuytren's disease is a common fibroproliferative disease that can result in debilitating hand deformities. Partial correction and return of deformity are common with surgical or clinical treatments at present. While current treatments are limited to local procedures for relatively late effects of the disease, the pathophysiology of this connective tissue disorder is associated with both local and systemic processes (e.g., fibrosis, inflammation). Hence, a better understanding of the systemic circulation of Dupuytren related cytokines and growth factors may provide important insights into disease progression. In addition, systemic biomarker analysis could yield new concepts for treatments of Dupuytren that attenuate circulatory factors (e.g., anti-inflammatory agents, neutralizing antibodies). Progress in the development of any disease modifying biologic treatment for Dupuytren has been hampered by the lack of clinically useful biomarkers. The characterization of nonsurgical Dupuytren biomarkers will permit disease staging from diagnostic and prognostic perspectives, as well as allows evaluation of biologic responses to treatment. Identification of such markers may transcend their use in Dupuytren treatment, because fibrotic biological processes fundamental to Dupuytren are relevant to fibrosis in many other connective tissues and organs with collagen-based tissue compartments. There is a wide range of potential Dupuytren biomarker categories that could be informative, including disease determinants linked to genetics, collagen metabolism, as well as immunity and inflammation (e.g., cytokines, chemokines). This narrative review provides a broad overview of previous studies and emphasizes the importance of inflammatory mediators as candidate circulating biomarkers for monitoring Dupuytren's disease.
Topics: Dupuytren Contracture; Humans; Biomarkers; Inflammation; Cytokines
PubMed: 38912961
DOI: 10.1615/CritRevEukaryotGeneExpr.2024052889 -
The National Medical Journal of India 2023Desmoid tumours of the brachial plexus are rare locally infiltrative aggressive, monoclonal, fibroblastic proliferations characterized by a variable and often...
Desmoid tumours of the brachial plexus are rare locally infiltrative aggressive, monoclonal, fibroblastic proliferations characterized by a variable and often unpredictable clinical course. Only 21 patients have been reported in the literature. We add another one, and report function-preserving surgery in a 34-year-old man with a desmoid tumour of the brachial plexus. The patient presented with paraesthesia and gradually progressive distal muscle weakness in the left upper limb. Electrodiagnostic studies revealed preganglionic changes in segments C8-D1. Contrast-enhanced magnetic resonance imaging showed an enhancing mass with irregular margins in the left paravertebral region encasing the subclavian artery, pre- and post-ganglionic C6-D1 nerve roots and trunks of the brachial plexus. Using an anterior transclavicular approach the tumour was decompressed, which led to a major improvement in paraesthesia and partial motor recovery. He was doing well at 6 months of follow-up. Histopathological examination showed findings consistent with desmoid tumour. A tailored multidisciplinary surgical approach, with the aim to preserve function over radiological clearance, is an acceptable treatment strategy in preserving patient's quality of life for such infiltrating desmoid tumours encasing the brachial plexus. Following surgery, observation and close radiological surveillance offer an optimal strategy without jeopardizing the quality of life.
Topics: Humans; Male; Adult; Fibromatosis, Aggressive; Brachial Plexus; Magnetic Resonance Imaging
PubMed: 38909294
DOI: 10.25259/NMJI_980_20 -
Indian Journal of Pathology &... Jun 2024Human dirofilariasis is a rare arthropod-borne zoonotic infection caused by a filarial nematode of the genus Dirofilaria. It typically manifests in humans as pulmonary,...
Human dirofilariasis is a rare arthropod-borne zoonotic infection caused by a filarial nematode of the genus Dirofilaria. It typically manifests in humans as pulmonary, ocular, or subcutaneous lesions. In India, the disease is predominantly seen in the southern states, especially Kerala. Cases documented from India are mostly of ocular infection, and very few cases of subcutaneous dirofilariasis (SD) are reported. We hereby present a case of SD in a 25-year-old male, clinically diagnosed to have fibroma of the left forearm. Histopathology confirmed the diagnosis of SD. We present this case to reiterate that SD, though very rare in North India, should always be considered as a differential for subcutaneous swellings.
PubMed: 38904431
DOI: 10.4103/ijpm.ijpm_14_24 -
Trials Jun 2024Dupuytren's contractures (DC) are fibrous cords under the skin of the hand that cause one or more fingers to curl gradually and irreversibly towards the palm. These...
BACKGROUND
Dupuytren's contractures (DC) are fibrous cords under the skin of the hand that cause one or more fingers to curl gradually and irreversibly towards the palm. These contractures are usually painless but can cause a loss of hand function. Two treatments for Dupuytren's contractures are widely used within the National Health Service (NHS) in the UK: removal of the contractures via surgery (limited fasciectomy) and division of the contractures via a needle inserted through the skin (needle fasciotomy). This study aims to establish the clinical and cost-effectiveness of needle fasciotomy (NF) versus limited fasciectomy (LF) for the treatment of DC in the NHS, in terms of patient-reported hand function and resource utilisation.
METHODS/DESIGN
Hand-2 is a national multi-centre, two-arm, parallel-group randomised, non-inferiority trial. Patients will be eligible to join the trial if they are aged 18 years or older, have at least one previously untreated finger with a well-defined Dupuytren's contracture of 30° or greater that causes functional problems and is suitable for treatment with either LF or NF. Patients with a contracture of the distal interphalangeal joint only are ineligible. Eligible consenting patients will be randomised 1:1 to receive either NF or LF and will be followed up for 24 months post-treatment. A QuinteT Recruitment Intervention will be used to optimise recruitment. The primary outcome measure is the participant-reported assessment of hand function, assessed by the Hand Health Profile of the Patient Evaluation Measure (PEM) questionnaire at 12 months post-treatment. Secondary outcomes include other patient-reported measures, loss of finger movement, and cost-effectiveness, reported over the 24-month post-treatment. Embedded qualitative research will explore patient experiences and acceptability of treatment at 2 years post-surgery.
DISCUSSION
This study will determine whether treatment with needle fasciotomy is non-inferior to limited fasciectomy in terms of patient-reported hand function at 12 months post-treatment.
TRIAL REGISTRATION
International Standard Registered Clinical/soCial sTudy ISRCTN12525655. Registered on 18th September 2020.
Topics: Dupuytren Contracture; Humans; Fasciotomy; Multicenter Studies as Topic; Cost-Benefit Analysis; Needles; Treatment Outcome; Equivalence Trials as Topic; Recovery of Function; Fingers; United Kingdom; Time Factors; Patient Reported Outcome Measures
PubMed: 38898458
DOI: 10.1186/s13063-024-08003-1 -
Journal of Clinical Medicine May 2024The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment...
The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment paradigms by integrating novel molecular insights. Fibro-osseous lesions of the maxillo-facial bones constitute a heterogeneous group encompassing fibrous dysplasia, Psammomatoid Ossifying Fibroma (PSOF), Juvenile Trabecular Ossifying Fibroma (JTOF), and other variants. Despite histological similarities, their distinct clinical manifestations and prognostic implications mandate precise differentiation. The intricacies of diagnosing fibro-osseous lesions pose challenges for pathologists, maxillofacial surgeons, dentists and oral surgeons, underscoring the importance of a systematic approach to ensure optimal patient management. Herein, we present two cases, fibrous dysplasia and Cemento-Ossifying Fibroma, detailing their clinical encounters and management strategies. Both patients provided informed consent for publishing their data and images, adhering to ethical guidelines.
PubMed: 38892944
DOI: 10.3390/jcm13113233 -
Histopathology Jun 2024
PubMed: 38890784
DOI: 10.1111/his.15240 -
Histopathology Jun 2024Chondromyxoid fibroma (CMF) is a rare, benign bone tumour which arises primarily in young adults and is occasionally diagnostically challenging. Glutamate metabotropic...
AIMS
Chondromyxoid fibroma (CMF) is a rare, benign bone tumour which arises primarily in young adults and is occasionally diagnostically challenging. Glutamate metabotropic receptor 1 (GRM1) gene encodes a metabotropic glutamate receptor and was recently shown to be up-regulated in chondromyxoid fibroma through gene fusion and promoter swapping. The aim of this study was to interrogate cases of CMF for the presence of GRM1 gene rearrangements, gene fusions and GRM1 protein overexpression.
METHODS AND RESULTS
Selected cases were subjected to testing by fluorescent in-situ hybridisation (FISH) with a GRM1 break-apart probe, a targeted RNA sequencing method and immunohistochemical study with an antibody to GRM1 protein. Two cases were subjected to whole transcriptomic sequencing. In 13 of 13 cases, GRM1 protein overexpression was detected by immunohistochemistry using the GRM1 antibody. Of the 12 cases successfully tested by FISH, nine of 12 showed GRM1 rearrangements by break-apart probe assay. Targeted RNA sequencing analysis did not detect gene fusions in any of the eight cases tested, but there was an increase in GRM1 mRNA expression in all eight cases. Two cases subjected to whole transcriptomic sequencing (WTS) showed elevated GRM1 expression and no gene fusions.
CONCLUSION
GRM1 gene rearrangements can be detected using FISH break-apart probes in approximately 75% of cases, and immunohistochemical detection of GRM1 protein over-expression is a sensitive diagnostic method. The gene fusion was not detected by targeted RNA sequencing, due most probably to the complexity of fusion mechanism, and is not yet a reliable method for confirming a diagnosis of CMF in the clinical setting.
PubMed: 38890779
DOI: 10.1111/his.15248 -
BMJ Open Jun 2024The occurrence of hand and forearm disorders related to vibration exposure, adjusted for relevant background factors, is scarcely reported. We analysed the prevalence of...
OBJECTIVES
The occurrence of hand and forearm disorders related to vibration exposure, adjusted for relevant background factors, is scarcely reported. We analysed the prevalence of such conditions in a large population cohort, stratified by sex, and associations with exposure to vibrating hand-held tools.
DESIGN
This is a retrospective cohort study.
SETTING
Individuals in the Malmö Diet and Cancer Study cohort (MDCS; inclusion 1991-1996; followed until 2018) were asked, 'does your work involve working with vibrating hand-held tools?' (response: 'not at all', 'some' and 'much'). Data were cross-linked with national registers to identify treatment for carpal tunnel syndrome (CTS), ulnar nerve entrapment (UNE), Dupuytren's disease, trigger finger or first carpometacarpal joint (CMC-1) osteoarthritis (OA). Cox regression models, unadjusted and adjusted (age, sex, prevalent diabetes, smoking, hypertension and alcohol consumption), were performed to analyse the effects of reported vibration exposure.
PARTICIPANTS
Individuals in the MDCS who had answered the questionnaire on vibration exposure (14 342 out of the originally 30 446 individuals in MDCS) were included in the study.
RESULTS
In total, 12 220/14 342 individuals (76%) reported 'no' exposure, 1392/14 342 (9%) 'some' and 730/14 342 (5%) 'much' exposure to vibrating hand-held tools. In men, 'much' exposure was independently associated with CTS (HR 1.71 (95% CI 1.11 to 2.62)) and UNE (HR 2.42 (95% CI 1.15 to 5.07)). 'Some' exposure was independently associated with UNE in men (HR 2.10 (95% CI 1.12 to 3.95)). 'Much' exposure was independently associated with trigger finger in women (HR 2.73 (95% CI 1.49 to 4.99)). We found no effect of vibration exposure on Dupuytren's disease or CMC-1 OA. 'Much' vibration exposure predicted any hand and forearm diagnosis in men (HR 1.44 (95% CI 1.08 to 1.80)), but not in women.
CONCLUSIONS
Vibration exposure by hand-held tools increases the risk of developing CTS and UNE and any common hand and forearm conditions in men, whereas women only risk trigger finger and CMC-1 OA. Adjustment for relevant confounders in vibration exposure is crucial.
Topics: Humans; Male; Female; Retrospective Studies; Sweden; Middle Aged; Vibration; Carpal Tunnel Syndrome; Aged; Occupational Exposure; Occupational Diseases; Trigger Finger Disorder; Dupuytren Contracture; Hand; Prevalence; Risk Factors; Ulnar Nerve Compression Syndromes; Adult; Proportional Hazards Models
PubMed: 38890140
DOI: 10.1136/bmjopen-2023-080777 -
Khirurgiia 2024Surgical treatment of chondromyxoid fibroma of ribs is described. The diagnosis was verified after histological analysis. The patient underwent resection of multinodular...
Surgical treatment of chondromyxoid fibroma of ribs is described. The diagnosis was verified after histological analysis. The patient underwent resection of multinodular tumor of anterolateral thoracic wall invading abdominal cavity via thoracoabdominal access. Postoperative period was uneventful. This case demonstrates the need for total en-bloc resection of tumor with surrounding tissues. Surgery is the only effective method for these patients.
Topics: Humans; Ribs; Fibroma; Bone Neoplasms; Treatment Outcome; Male; Thoracic Wall; Female; Tomography, X-Ray Computed; Adult; Thoracotomy
PubMed: 38888025
DOI: 10.17116/hirurgia202406194 -
Cureus May 2024Renomedullary interstitial cell tumors (RMICTs) are rare benign renal tumors that arise from the renal medulla. They are rarely symptomatic and are mostly discovered...
Renomedullary interstitial cell tumors (RMICTs) are rare benign renal tumors that arise from the renal medulla. They are rarely symptomatic and are mostly discovered incidentally. Radiologically, their co-presence ipsilaterally in the background of a larger mass introduces a miscellaneous presentation that raises the suspicion of metastatic disease. A characteristic presentation does not exist. Therefore, an individualized, patient-centered approach should be tailored depending on the nature of the presentation. We report the clinical, radiological, and histopathological presentation of a 46-year-old woman presenting with an RMICT in the background of a renal oncocytoma.
PubMed: 38887327
DOI: 10.7759/cureus.60531