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The Journal of Hand Surgery Dec 2023The objective of this systematic review and meta-analysis was to synthesize the available randomized controlled trial data comparing needle fasciotomy and collagenase... (Meta-Analysis)
Meta-Analysis
PURPOSE
The objective of this systematic review and meta-analysis was to synthesize the available randomized controlled trial data comparing needle fasciotomy and collagenase treatment for single-digit Dupuytren contractures with a minimum of 3-year follow-up and determine whether one treatment is superior regarding contracture correction and functional outcomes.
METHODS
A systematic review and meta-analysis was conducted by searching four databases for randomized controlled trials investigating the single-digit treatment outcomes for Dupuytren contracture comparing collagenase treatment and needle fasciotomy with a minimum of 3-year follow-up. The risk of bias of included studies was assessed using the Cochrane risk-of-bias tool. A meta-analysis was performed using a random effects model in anticipation of unobserved heterogeneity. The primary outcome measure was contracture recurrence. Secondary outcome measures included final fixed flexion contracture (FFC), Quick Disabilities of Arm, Shoulder and Hand (QuickDASH) scores, and Unité Rhumatologique des Affections de la Main (URAM) scores.
RESULTS
After screening 264 articles, 4 randomized clinical trials were eligible for final inclusion. One trial had a high risk of bias, and two trials had some concern for bias. The final meta-analysis included 347 patients, 169 who underwent collagenase treatment and 178 who underwent needle fasciotomy. No significant differences were noted between the groups in contracture recurrence, FFC, and URAM scores. The pooled data showed a higher QuickDASH score in the collagenase treatment group compared with the needle fasciotomy group, but the observed difference was less than what would be expected to be clinically relevant.
CONCLUSIONS
Needle fasciotomy and collagenase treatment have similar outcomes with regards to contracture recurrence, final FFC, QuickDASH scores, and URAM scores for the single-digit treatment for Dupuytren contracture at a minimum of 3-year follow-up. Relevant factors that may be considered during the shared decision-making process for treatment selection include surgeon and patient preferences, costs of treatment, and the disparate complication profiles of these two treatments.
TYPE OF STUDY/LEVEL OF EVIDENCE
Therapeutic II.
Topics: Humans; Dupuytren Contracture; Fasciotomy; Randomized Controlled Trials as Topic; Collagenases; Treatment Outcome; Joint Dislocations; Microbial Collagenase
PubMed: 37725027
DOI: 10.1016/j.jhsa.2023.08.008 -
The Journal of Thoracic and... Mar 2024Papillary fibroelastomas are associated with an increased risk of embolic strokes. Excision of papillary fibroelastomas may be the primary indication for surgery...
OBJECTIVE
Papillary fibroelastomas are associated with an increased risk of embolic strokes. Excision of papillary fibroelastomas may be the primary indication for surgery (primary) or performed during other cardiac operations (secondary). The present study summarizes our experience with primary and secondary fibroelastoma surgery.
METHODS
We analyzed the medical records of patients who underwent surgical excision of papillary fibroelastoma between January 1998 and February 2020. Patient characteristics, indications for operation, tumor size and location, and operative and long-term outcomes were evaluated.
RESULTS
Among the 294 patients (median age: 66 years, 62% female), papillary fibroelastoma was the primary indication for surgery in 136 patients (46%), and 51% of patients had a history of stroke or transient ischemic attack. When papillary fibroelastoma was a secondary indication for surgery (158 patients, 54%), the lesion was identified preoperatively in 39%. Papillary fibroelastomas were located most commonly on the aortic valve and least commonly in the right side of the heart. For valvular papillary fibroelastoma resected from a normal valve, valve shave was sufficient in 96% (196/205). Operative mortality was low in both groups (primary, 0% vs secondary, 2.5%, P = .13), and early neurologic events occurred in 1.3%. Recurrence rate was 15.8% at 10 years. The estimated survival for patients with primary papillary fibroelastoma at 10 years was 78.4%, whereas for secondary papillary fibroelastoma removal it was 53.6% (log rank, P = .003).
CONCLUSIONS
Resection of papillary fibroelastomas can be performed safely, with preservation of the native valve, and with low rates of neurologic events. Operative and long-term outcomes after fibroelastoma resection are excellent.
Topics: Humans; Female; Aged; Male; Cardiac Papillary Fibroelastoma; Heart Neoplasms; Fibroma; Aortic Valve; Stroke
PubMed: 35989118
DOI: 10.1016/j.jtcvs.2022.06.022 -
Journal of Cardiothoracic and Vascular... Aug 2023
Topics: Humans; Aortic Valve; Heart Valve Diseases; Fibroma; Heart Neoplasms
PubMed: 37164804
DOI: 10.1053/j.jvca.2023.04.005 -
Genes, Chromosomes & Cancer May 2024Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be...
Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome). Affected patients also have an increased risk to develop desmoid fibromatosis (DTF), a locally aggressive neoplasm of the deep soft tissue highly prone to local recurrences. Although a minority of DTFs occur in the syndromic context and harbor APC germline mutations, most frequently their underlying molecular aberration is a sporadic mutation in Exon 3 of the CTNNB1 gene. Up to date, a non-syndromic equivalent to Gardner fibroma carrying a CTNNB1 mutation has not been defined. Here, we present two cases of (sub-)cutaneous tumors with a hypocellular and collagen-rich Gardner fibroma-like appearance and pathogenic, somatic CTNNB1 mutations. We aim to differentiate these tumors from other fibromas according to their histological appearance, immunohistochemical staining profile and underlying somatic CTNNB1 mutations. Furthermore, we distinguish them from locally aggressive desmoid fibromatosis regarding their biological behavior, prognosis and indicated therapeutic strategies. Consequently, we call them CTNNB1-mutated superficial fibromas as a sporadic counterpart lesion to syndromic Gardner fibromas.
Topics: Humans; beta Catenin; Fibroma; Male; Female; Mutation; Middle Aged; Fibromatosis, Aggressive; Adult; Gardner Syndrome; Germ-Line Mutation
PubMed: 38757718
DOI: 10.1002/gcc.23247 -
Quantitative Imaging in Medicine and... Oct 2023Desmoid-type fibromatosis (DF) is a locally aggressive tumor characterized by peripheral infiltration of neoplastic cells and remote metastasis disability. This...
BACKGROUND
Desmoid-type fibromatosis (DF) is a locally aggressive tumor characterized by peripheral infiltration of neoplastic cells and remote metastasis disability. This systematic review examined the efficacy and safety of thermal ablative therapy for DF tumors.
METHODS
A literature search was conducted using PubMed, Web of Science, Cochrane Library, and Embase from January 1, 2000, to November 12, 2022. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement was used to guide literature selection. The inclusion criteria were the following: (I) the patients were diagnosed with aggressive fibromatosis pathologically, (II) the patients were treated by thermal ablations, and (III) a focus on treatment efficacy and safety. Meanwhile, the exclusion criteria were the following: (I) cohorts of patients with hypertrophic scar, Gardner fibroma, or nodular fasciitis; (II) conference abstracts, reviews, case reports, letters to editors, comments, or editorials; (III) number of patients <5; (IV) or animal experiments; and (V) non-English language articles. The inverse variance method with a random effects model was used to obtain the pooled data. Subgroup analyses were performed to identify treatment factors. Egger test was conducted to assess the risk of publication bias.
RESULTS
After literature selection, 694 DF tumors were identified in 23 studies. In terms of modality, 13 studies used cryoablation, 9 studies used high-intensity focused ultrasound (HIFU), and 1 study used microwave ablation (MWA). The pooled symptom relief rate was 90% [95% confidence interval (CI): 80-97%], with that for HIFU being 100% (95% CI: 85-100%), that for cryoablation being 87% (95% CI: 74-97%), and that MWA being 89% (95% CI). The pooled major complication rate was 3% (95% CI: 1-7%), and that for each modality was as follows: HIFU =2% (95% CI: 0-6%), cryoablation =4% (95% CI: 1-8%), MWA =11%, ultrasound =6% (95% CI: 1-13%), computed tomography (CT) =2% (95% CI: 0-7%), and magnetic resonance imaging (MRI) =3% (95% CI: 0-14%). The pooled nonperfused volume rate (NPVR) was 76% (95% CI: 71-81%), and that for each modality was as follows: HIFU =77% (95% CI: 71-85%), cryoablation =74% (95% CI: 69-79%), ultrasound =75% (95% CI: 67-83%), CT =76% (95% CI: 67-87%), and MRI =78% (95% CI: 70-87%). The pooled local control rate was 88% (95% CI: 79-94%) and that for each modality was as follows: HIFU =99% (95% CI: 96-100%), cryoablation =80% (95% CI: 68-90%), and MWA =78%. The differences in major complication rate (P=0.77) and NPVR between imaging-guided modalities (P=0.40) were not significant, nor were the differences in symptom relief rate (P=0.32) and major complication rate (P=0.61) between ablative techniques; however, the differences in local control rate (P=0.01) were significant between ablative techniques.
CONCLUSIONS
Imaging-guided thermal ablative therapies contribute to symptom relief with a duration of more than 6 months and a low major complication rate of DF tumors.
PubMed: 37869315
DOI: 10.21037/qims-23-289 -
Orphanet Journal of Rare Diseases Jul 2023Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending... (Review)
Review
Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed.
Topics: Male; Child; Infant; Female; Humans; Child, Preschool; Siblings; Tachycardia, Ventricular; Basal Cell Nevus Syndrome; Arrhythmias, Cardiac; Heart Neoplasms; Fibroma
PubMed: 37408081
DOI: 10.1186/s13023-023-02792-5 -
Radiotherapy and Oncology : Journal of... Aug 2023Radiotherapy is considered a treatment option for Ledderhose disease. However, its benefits have never been confirmed in a randomised controlled trial. Therefore, the... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND AND PURPOSE
Radiotherapy is considered a treatment option for Ledderhose disease. However, its benefits have never been confirmed in a randomised controlled trial. Therefore, the LedRad-study was conducted.
MATERIALS AND METHODS
The LedRad-study is a prospective multicentre randomised double-blind phase three trial. Patients were randomised to sham-radiotherapy (placebo) or radiotherapy. The primary endpoint was pain reduction at 12 months after treatment, measured with the Numeric Rating Scale (NRS). Secondary endpoints were pain reduction at 6 and 18 months after treatment, quality of life (QoL), walking abilities and toxicity.
RESULTS
A total of 84 patients were enrolled. At 12 and 18 months, patients in the radiotherapy group had a lower mean pain score compared to patients in the sham-radiotherapy group (2.5 versus 3.6 (p = 0.03) and 2.1 versus 3.4 (p = 0.008), respectively). Pain relief at 12 months was 74% in the radiotherapy group and 56% in the sham-radiotherapy group (p = 0.002). Multilevel testing for QoL scores showed higher QoL scores in the radiotherapy group compared to the sham-radiotherapy group (p < 0.001). Moreover, patients in the radiotherapy group had a higher mean walking speed and step rate with barefoot speed walking (p = 0.02). Erythema, skin dryness, burning sensations and increased pain were the most frequently reported side effects. These side effects were generally graded as mild (95%) and the majority (87%) were resolved at 18 months follow-up.
CONCLUSION
Radiotherapy for symptomatic Ledderhose disease is an effective treatment resulting in a significant pain reduction, improvement of QoL scores and bare feet walking abilities, in comparison to sham-radiotherapy.
Topics: Humans; Quality of Life; Fibromatosis, Plantar; Prospective Studies; Treatment Outcome; Pain; Double-Blind Method
PubMed: 37211283
DOI: 10.1016/j.radonc.2023.109718 -
BMJ Case Reports Jan 2024Ossifying fibroma is a type of fibro-osseous lesion categorised into cemento-ossifying fibroma and juvenile ossifying fibroma. Malignant transformation of fibro-osseous...
Ossifying fibroma is a type of fibro-osseous lesion categorised into cemento-ossifying fibroma and juvenile ossifying fibroma. Malignant transformation of fibro-osseous lesions is documented especially for fibrous dysplasia, but scarcity is seen when we search for malignant transformation of ossifying fibroma. Thus, we are presenting an extremely rare case of cemento-ossifying fibroma transforming into osteosarcoma with long sequential radiographic details.
Topics: Humans; Fibroma, Ossifying; Cementoma; Bone Neoplasms; Bone and Bones; Skull Neoplasms; Osteosarcoma
PubMed: 38233000
DOI: 10.1136/bcr-2023-257104 -
International Journal of Molecular... Oct 2023Dupuytren's disease (DD) is a fibroproliferative disorder affecting the palmar fascia, causing functional restrictions of the hand and thereby limiting patients' daily...
Dupuytren's disease (DD) is a fibroproliferative disorder affecting the palmar fascia, causing functional restrictions of the hand and thereby limiting patients' daily lives. The disturbed and excessive myofibroblastogenesis, causing DD, is mainly induced by transforming growth factor (TGF)-β1. But, the extent to which impaired TGF-β1 release or TGF-β signal degradation is involved in pathologically altered myofibroblastogenesis in DD has been barely examined. Therefore, the complex in which TGF-β1 is secreted in the extracellular matrix to elicit its biological activity, and proteins such as plasmin, integrins, and matrix metalloproteinases (MMPs), which are involved in the TGF-β1 activation, were herein analyzed in DD-fibroblasts (DD-FBs). Additionally, TGF-β signal degradation via caveolin-1 was examined with 5-fluoruracil (5-FU) in detail. Gene expression analysis was performed via Western blot, PCR, and immunofluorescence analyses. As a surrogate parameter for disturbed myofibroblastogenesis, 𝛼-smooth-muscle-actin (𝛼-SMA) expression was evaluated. It was demonstrated that latency-associated peptide (LAP)-TGF-β and latent TGF-β-binding protein (LTBP)-1 involved in TGF-β-complex building were significantly upregulated in DD. Plasmin a serinprotease responsible for the TGF-β release was significantly downregulated. The application of exogenous plasmin was able to inhibit disturbed myofibroblastogenesis, as measured via 𝛼-SMA expression. Furthermore, a reduced TGF-β1 degradation was also involved in the pathological phenotype of DD, because caveolin-1 expression was significantly downregulated, and if rescued, myofibroblastogenesis was also inhibited. Therefore, our study demonstrates that a deficient release and degradation of TGF-β1 are important players in the pathological phenotype of DD and should be addressed in future research studies to improve DD therapy or other related fibrotic conditions.
Topics: Humans; Dupuytren Contracture; Transforming Growth Factor beta1; Caveolin 1; Fibrinolysin; Fibroblasts; Transforming Growth Factor beta; Cells, Cultured
PubMed: 37894778
DOI: 10.3390/ijms242015097 -
Nature Communications Jan 2024Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling... (Meta-Analysis)
Meta-Analysis
Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders. We performed a meta-analysis of six DD genome-wide association studies from three European countries and extensive bioinformatic follow-up analyses. Leveraging 11,320 cases and 47,023 controls, we identified 85 genome-wide significant single nucleotide polymorphisms in 56 loci, of which 11 were novel, explaining 13.3-38.1% of disease variance. Gene prioritization implicated the Hedgehog and Notch signaling pathways. We also identified a significant genetic correlation with frozen shoulder. The pathways identified highlight the potential for new therapeutic targets and provide a basis for additional mechanistic studies for a common disorder that can severely impact hand function.
Topics: Humans; Animals; Dupuytren Contracture; Genome-Wide Association Study; Hedgehogs; Wnt Signaling Pathway; Genetic Loci; Polymorphism, Single Nucleotide; Genetic Predisposition to Disease
PubMed: 38172110
DOI: 10.1038/s41467-023-44451-0