LIVIVO - Search results -

Search results

Result 1 - 10 of total 65

Search options

Article ; Online: Treatment updates on tenosynovial giant cell tumor.

Palmerini, Emanuela / Staals, Eric L

2022 Volume 34, Issue 4, Page(s) 322–327

Abstract: Purpose of review: Diffuse-type tenosynovial giant cell tumor (dt-TGCT) is a benign clonal neoplastic proliferation arising from the synovium. Patients are often symptomatic, require multiple surgical procedures during their lifetime, and have reduced ... ...

Abstract	Purpose of review: Diffuse-type tenosynovial giant cell tumor (dt-TGCT) is a benign clonal neoplastic proliferation arising from the synovium. Patients are often symptomatic, require multiple surgical procedures during their lifetime, and have reduced quality of life (QoL). Surgery is the main treatment with relapse rates ranging from 14 to 55%. The treatment strategy for patients with dt-TGCT is evolving. The purpose of this review is to describe current treatment options, and to highlight recent developments in the knowledge of the molecular pathogenesis of dt-TGCT as well as related therapeutic implications. Recent findings: TGCT cells overexpress colony-stimulating factor 1 (CSF1), resulting in recruitment of CSF1 receptor (CSF1R)-bearing macrophages that are polyclonal and make up the bulk of the tumor, has led to clinical trials with CSF1R inhibitors. These inhibitors include small molecules such as pexidatinib, imatinib, nilotinib, DCC-3014 (vimseltinib), and the monoclonal antibody RG7155 (emactuzumab). Summary: In conclusion, D-TGCT impairs patients' QoL. The evidence that the pathogenetic loop of D-TGCT can be inhibited has changed the therapeutic armamentarium for this condition. Clinical trials of agents that target CSF1R are currently ongoing. All this new evidence should be taken into consideration within multidisciplinary management.
MeSH term(s)	Giant Cell Tumor of Tendon Sheath/drug therapy ; Giant Cell Tumor of Tendon Sheath/pathology ; Giant Cell Tumor of Tendon Sheath/surgery ; Humans ; Neoplasm Recurrence, Local ; Protein Kinase Inhibitors/therapeutic use ; Quality of Life ; Synovitis, Pigmented Villonodular/drug therapy ; Synovitis, Pigmented Villonodular/surgery
Chemical Substances	Protein Kinase Inhibitors
Language	English
Publishing date	2022-06-12
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1049384-0
ISSN	1531-703X ; 1040-8746
ISSN (online)	1531-703X
ISSN	1040-8746
DOI	10.1097/CCO.0000000000000853
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3046: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article: Rare Primary Malignant Bone Sarcomas.

Palmerini, Emanuela / Righi, Alberto / Staals, Eric L

Cancers

2020 Volume 12, Issue 11

Abstract: Rare primary malignant bone sarcomas (RPMBS), other than osteosarcoma, chondrosarcoma, chordoma, and Ewing sarcoma, account for about 5-10% of primary bone tumors and represent a major diagnostic challenge. These tumors include spindle cell and round ... ...

Abstract	Rare primary malignant bone sarcomas (RPMBS), other than osteosarcoma, chondrosarcoma, chordoma, and Ewing sarcoma, account for about 5-10% of primary bone tumors and represent a major diagnostic challenge. These tumors include spindle cell and round cell sarcoma entities, hemangiopericytoma-like and vascular tumors. Additionally, several histotypes, traditionally described in the soft tissues, such as myxofibrosarcoma, synovial sarcoma, and malignant peripheral nerve sheath tumor of bone, have been reported in patients with primary bone tumors. While wide surgical resection is the mainstay of local treatment, systemic therapy of these rare entities is controversial. Patients with undifferentiated spindle cell or pleomorphic high-grade tumors of bone, are usually treated with osteosarcoma-like chemotherapy, while patients with round cell and undifferentiated round cell tumors (URCTs), may respond to sarcoma treatment regimens for Ewing sarcoma patients. Studies on analogies and differences among these ultra-rare tumors have seldom been reported. This review describes relevance, clinical aspects, diagnostic procedures, staging, treatment recommendations, and current research in this composite tumor group.
Language	English
Publishing date	2020-10-23
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers12113092
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study.

Boarini, Manila / Tremosini, Morena / Di Cecco, Alessia / Gnoli, Maria / Brizola, Evelise / Mordenti, Marina / Pedrini, Elena / Locatelli, Manuela / Lanza, Marcella / Antonioli, Diego / Gallone, Giovanni / Rocca, Gino / Staals, Eric L / Trisolino, Giovanni / Sangiorgi, Luca

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

2024 Volume 33, Issue 5, Page(s) 1323–1334

Abstract: Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.: Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the ... ...

Abstract	Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients. Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected. Descriptive statistics, Fisher's exact test, One-sample t-test, Spearman's correlation, and multiple linear and logistic regression were performed to analyze the data. Results are reported following STROBE guidelines. Results: A total of 128 patients were included in the study, with a mean age of 14 [SD, 10] years. The mean EQ-5D Index Value was 0.863 [SD, 0.200] and the EQ-VAS was 84 [SD, 19] with a positive correlation between two scores [r = 0.541, p < 0.001]. Patients frequently referred problems in pain/discomfort [78.8%], anxiety/depression [50%], and usual activities [38.8%] dimensions. Increasing age was the common risk factor for health-related quality of life [p < 0.000], as well as Index Value and VAS scores were significantly lower in surgical patients [p = 0.001 and p < 0.001, respectively]. Conclusion: Increasing age and surgical procedures were found highly associated with reduced health-related quality of life in Multiple Osteochondromas patients. Our findings provide relevant information to support the establishment of patient-centered healthcare pathways and pave the way for further research into medical and non-medical therapeutic strategies for these patients.
MeSH term(s)	Humans ; Quality of Life ; Cross-Sectional Studies ; Male ; Female ; Risk Factors ; Adolescent ; Surveys and Questionnaires ; Adult ; Young Adult ; Child ; Exostoses, Multiple Hereditary/psychology ; Child, Preschool ; Middle Aged
Language	English
Publishing date	2024-03-08
Publishing country	Netherlands
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1161148-0
ISSN	1573-2649 ; 0962-9343
ISSN (online)	1573-2649
ISSN	0962-9343
DOI	10.1007/s11136-024-03604-4
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3796: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: A Mass With High Uptake of Fluorodeoxyglucose on Positron Emission Tomography.

Staals, Eric L / Rimondi, Eugenio / Palmerini, Emanuela

JAMA oncology

2018 Volume 4, Issue 10, Page(s) 1421–1422

MeSH term(s)	Adolescent ; Ankle Joint/diagnostic imaging ; Diagnosis, Differential ; Female ; Fluorodeoxyglucose F18 ; Humans ; Magnetic Resonance Imaging/methods ; Positron-Emission Tomography/methods ; Reproducibility of Results ; Sensitivity and Specificity ; Synovitis, Pigmented Villonodular/diagnostic imaging
Chemical Substances	Fluorodeoxyglucose F18 (0Z5B2CJX4D)
Language	English
Publishing date	2018-10-11
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	2374-2445
ISSN (online)	2374-2445
DOI	10.1001/jamaoncol.2018.1120
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Active surveillance of diffuse-type tenosynovial giant cell tumors: A retrospective, multicenter cohort study.

Spierenburg, Geert / Staals, Eric L / Palmerini, Emanuela / Randall, Robert Lor / Thorpe, Steven W / Wunder, Jay S / Ferguson, Peter C / Verspoor, Floortje G M / Houdek, Matthew T / Bernthal, Nicholas M / Schreuder, Bart H W B / Gelderblom, Hans / van de Sande, Michiel A J / van der Heijden, Lizz

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

2024 Volume 50, Issue 2, Page(s) 107953

Abstract: Background: Diffuse-type tenosynovial giant cell tumor (D-TGCT) is a mono-articular, soft-tissue tumor. Although it can behave locally aggressively, D-TGCT is a non-malignant disease. This is the first study describing the natural course of D-TGCT and ... ...

Abstract	Background: Diffuse-type tenosynovial giant cell tumor (D-TGCT) is a mono-articular, soft-tissue tumor. Although it can behave locally aggressively, D-TGCT is a non-malignant disease. This is the first study describing the natural course of D-TGCT and evaluating active surveillance as possible treatment strategy. Methods: This retrospective, multicenter study included therapy naïve patients with D-TGCT from eight sarcoma centers worldwide between 2000 and 2019. Patients initially managed by active surveillance following their first consultation were eligible. Data regarding the radiological and clinical course and subsequent treatments were collected. Results: Sixty-one patients with primary D-TGCT were initially managed by active surveillance. Fifty-nine patients had an MRI performed around first consultation: D-TGCT was located intra-articular in most patients (n = 56; 95 %) and extra-articular in 14 cases (24 %). At baseline, osteoarthritis was observed in 13 patients (22 %) on MRI. Most of the patients' reported symptoms: pain (n = 43; 70 %), swelling (n = 33; 54 %). Eight patients (13 %) were asymptomatic. Follow-up data were available for 58 patients; the median follow-up was 28 months. Twenty-one patients (36 %) had radiological progression after 21 months (median). Eight of 45 patients (18 %) without osteoarthritis at baseline developed osteoarthritis during follow-up. Thirty-seven patients (64 %) did not clinically deteriorate during follow-up. Finally, eighteen patients (31 %) required a subsequent treatment. Conclusion: Active surveillance can be considered adequate for selected therapy naïve D-TGCT patients. Although follow-up data was limited, almost two-thirds of the patients remained progression-free, and 69 % did not need treatment during the follow-up period. However, one-fifth of patients developed secondary osteoarthritis. Prospective studies on active surveillance are warranted.
MeSH term(s)	Humans ; Giant Cell Tumor of Tendon Sheath/therapy ; Giant Cell Tumor of Tendon Sheath/drug therapy ; Retrospective Studies ; Prospective Studies ; Watchful Waiting ; Synovitis, Pigmented Villonodular/pathology ; Synovitis, Pigmented Villonodular/surgery ; Soft Tissue Neoplasms/therapy ; Soft Tissue Neoplasms/surgery ; Osteoarthritis
Language	English
Publishing date	2024-01-06
Publishing country	England
Document type	Multicenter Study ; Journal Article
ZDB-ID	632519-1
ISSN	1532-2157 ; 0748-7983
ISSN (online)	1532-2157
ISSN	0748-7983
DOI	10.1016/j.ejso.2024.107953
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1149: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 549: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Treatment of chronic osteomyelitis with antibiotic-loaded bone void filler systems: an experience with hydroxyapatites calcium-sulfate biomaterials.

Visani, Jacopo / Staals, Eric L / Donati, Davide

Acta orthopaedica Belgica

2018 Volume 84, Issue 1, Page(s) 25–29

Abstract: This is a retrospective study that aims to quantify the problem of chronic osteomyelitis in one of the largest Italian orthopedic centers. Furthermore this study is focused on evaluation of efficacy of bone void filler systems with particular attention ... ...

Abstract	This is a retrospective study that aims to quantify the problem of chronic osteomyelitis in one of the largest Italian orthopedic centers. Furthermore this study is focused on evaluation of efficacy of bone void filler systems with particular attention to a subgroup of patients treated with PerOssal®. Ninety-seven patients were included in this study between 2008 and 2013 with a minimum follow up of 24 months. A subgroup of 52 patients was treated with curettage plus PerOssal®, another group was treated with curettage only or curettage with other bone void filler systems. Overall we obtained a cure rate of 80,4%, whereas 19,6% had recurrent infection. Looking at the subgroup treated with PerOssal® we found a healing rate of 86,5%, which was significantly higher compared to the other groups. Of the patients with recurrence of infection, those treated with PerOssal® recurred 106 days later than the other patients.
MeSH term(s)	Anti-Bacterial Agents/administration & dosage ; Anti-Bacterial Agents/therapeutic use ; Biocompatible Materials ; Calcium Sulfate ; Drug Delivery Systems ; Humans ; Hydroxyapatites ; Osteomyelitis/drug therapy ; Retrospective Studies ; Treatment Outcome
Chemical Substances	Anti-Bacterial Agents ; Biocompatible Materials ; Hydroxyapatites ; Calcium Sulfate (WAT0DDB505)
Language	English
Publishing date	2018-12-03
Publishing country	Belgium
Document type	Journal Article
ZDB-ID	210367-9
ISSN	0001-6462 ; 1784-407X
ISSN	0001-6462 ; 1784-407X
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 37: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Is the association of electrochemotherapy and bone fixation rational in patients with bone metastasis?

Cevolani, Luca / Campanacci, Laura / Staals, Eric Lodewijk / Dozza, Barbara / Bianchi, Giuseppe / De Terlizzi, Francesca / Donati, Davide Maria

Journal of surgical oncology

2023 Volume 128, Issue 1, Page(s) 125–133

Abstract: Background: Bone metastases are frequent in patients with cancer. Electrochemotherapy (ECT) is a minimally invasive treatment based on a high-voltage electric pulse combined with an anticancer drug. Preclinical and clinical studies supported the use of ... ...

Abstract	Background: Bone metastases are frequent in patients with cancer. Electrochemotherapy (ECT) is a minimally invasive treatment based on a high-voltage electric pulse combined with an anticancer drug. Preclinical and clinical studies supported the use of ECT in patients with metastatic bone disease, demonstrating that it does not damage the mineral structure of the bone and its regenerative capacity, and that is feasible and efficient for the treatment of bone metastases. Year 2014 saw the start of a registry of patients with bone metastases treated with ECT, whose data are recorded in a shared database. Questions/purposes: (1) Among patients who underwent ECT and internal fixation for bone metastasis, how many experienced a reduction of pain? (2) How many cases showed a radiological response? (3) How many patients presented local or systemic complication after ECT and fixation? Patients and methods: Patients were treated in Bologna at Rizzoli Orthopaedic Institute between March 2014 and February 2022 and recorded in the REINBONE registry (a shared database protected by security passwords): clinical and radiological information, ECT session, adverse events, response, quality of life indicators, and duration of follow-up were registered. We consider only cases treated with ECT and intramedullary nail during the same surgical session. Patients included in the analysis were 32: 15 males and 17 females, mean age 65 ± 13 years (median 66, range 38-88 years), mean time since diagnosis of primary tumor 6.2 ± 7.0 years (median 2.9, range 0-22 years). Nail was indicated in 13 cases for a pathological fracture in, 19 for an impending fracture. Follow-up was available for 29 patients, as 2 patients were lost to follow-up and 1 was unable to return to controls. Mean follow-up time was 7.7 ± 6.5 months (median 5, range 1-24), and 16 patients (50%) had a follow-up longer than 6 months. Results: A significant decrease in pain intensity was observed at the mean Visual Numeric Scale after treatment. Bone recovery was observed in 13 patients. The other 16 patients remained without changes, and one presented disease progression. One patient presented a fracture occurrence during the ECT procedure. Among all patients, bone recovery was observed in 13 patients: complete recovery in 1 patient (3%) and partial recovery in 12 patients (41%). The other 16 patients remained without changes, and one presented disease progression. One patient presented a fracture occurrence during the ECT procedure. However, healing was possible with normal fracture callus quality and healing time. No other local or systemic complications were observed. Conclusion: We found that pain levels decreased after treatment in 23 of the 29 cases for a pain relief rate of 79% at final follow-up. Pain is one of the most important indicators of quality of life in patients that undergo palliative treatments. Even if conventional external body radiotherapy is considered a noninvasive treatment, it presents a dose-dependent toxicity. ECT provides a chemical necrosis preserving osteogenic activity and structural integrity of bone trabeculae; this is a crucial difference with other local treatments and allows bone healing in case of pathological fracture. The risk of local progression in our patient population was small, and 44% experienced bone recovery while 53% of the cases remained unchanged. We observe intraoperative fracture in one case. This technique, in selected patients, improves outcome in bone metastatic patients combing both the efficacy of the ECT in the local control of the disease and the mechanical stability with the bone fixation to synergize their benefits. Moreover, the risk of complication is very low. Although encouraging data, comparative studies are required to quantify the real efficacy of the technique. Level of Evidence Level I, therapeutic study.
MeSH term(s)	Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Fractures, Spontaneous/etiology ; Fractures, Spontaneous/prevention & control ; Fractures, Spontaneous/pathology ; Electrochemotherapy ; Quality of Life ; Treatment Outcome ; Bone Neoplasms/drug therapy ; Bone Neoplasms/complications ; Fracture Fixation, Internal/methods ; Pain ; Disease Progression
Language	English
Publishing date	2023-03-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	82063-5
ISSN	1096-9098 ; 0022-4790
ISSN (online)	1096-9098
ISSN	0022-4790
DOI	10.1002/jso.27247
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 706: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli, Maria / Gambarotti, Marco / Righi, Alberto / Staals, Eric Lodewijk / Evangelista, Andrea / Tremosini, Morena / Brizola, Evelise / Mordenti, Marina / Boarini, Manila / Locatelli, Manuela / Pedrini, Elena / Sangiorgi, Luca

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 63

Abstract: Background: Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral ... ...

Abstract	Background: Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature. Data, including age, gender, site, histological grade, cartilage cap thickness, surgical treatments, surgical margins, genotype mutational status as well as treatment details were captured from the hospital electronic health records and from Registry of Multiple Osteochondromas. In addition, a complete histological review of all hematoxylin and eosin (H&E)-stained sections has been performed by expert pathologists. Results: One hundred five of the screened cases were included in the present study. The age at diagnosis of SPC ranges from 13 to 63, with median age at diagnosis of 34 years. The site most frequently affected by malignant degeneration was the pelvis (46 patients, 44%) with higher incidence in male patients (32 males vs.14 females). The second one was lower limbs (including femur, fibula, or tibia), identified in 35 patients. Histological information - available for 103 patients - showed: 59 patients with grade 1; 40 patients had a grade 2 and 4 patients had a grade 3. The most common surgical treatment was the complete resection, followed by debulking, amputation and partial resection. Most of cases did not have recurrence of the disease. Outcome in disease-free survival highlights that a worse course of the disease was associated with histological grade 2 or 3, and partial resection surgery. In most of analyzed cases (94%) a pathogenic variant was identified. Conclusions: In conclusion, the present study gives an overview of the secondary peripheral chondrosarcomas, confirming that this disease represents an impacting complication for multiple osteochondromas patients and suggests that malignant transformation can occur also in younger patient, in a not irrelevant number of cases.
MeSH term(s)	Female ; Humans ; Male ; Adult ; Exostoses, Multiple Hereditary/genetics ; Retrospective Studies ; Chondrosarcoma/genetics ; Chondrosarcoma/diagnosis ; Chondrosarcoma/pathology ; Osteochondroma/pathology ; Disease-Free Survival ; Bone Neoplasms/genetics ; Bone Neoplasms/diagnosis ; Bone Neoplasms/pathology
Language	English
Publishing date	2024-02-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-03006-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.

Mordenti, Marina / Boarini, Manila / Banchelli, Federico / Antonioli, Diego / Corsini, Serena / Gnoli, Maria / Locatelli, Manuela / Pedrini, Elena / Staals, Eric / Trisolino, Giovanni / Lanza, Marcella / Sangiorgi, Luca

Frontiers in endocrinology

2024 Volume 14, Page(s) 1299232

Abstract: Introduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to ... ...

Abstract	Introduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice. Methods: A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study. Results: Skeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.54 for male patients and -1.47 for female patients) compared with the general Italian population. Half of the patient population showed one or more deformities, and most of the patients had suffered a relatively low number of fractures (<10). An alteration in the sclera color was identified in 447 patients. Similarly, several extraskeletal features, like deafness, dental abnormalities, and cardiac problems, were investigated. Additionally, inheritance and genetic background were evaluated, showing that most of the patients have a positive family history and the majority of pathogenic variants detected were on collagen genes, as per literature. Conclusion: This study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice.
MeSH term(s)	Humans ; Male ; Female ; Osteogenesis Imperfecta/pathology ; Cross-Sectional Studies ; Fractures, Bone/epidemiology ; Phenotype ; Italy/epidemiology
Language	English
Publishing date	2024-01-11
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2023.1299232
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Tenosynovial Giant Cell Tumor Observational Platform Project (TOPP) Registry: A 2-Year Analysis of Patient-Reported Outcomes and Treatment Strategies.

Palmerini, Emanuela / Healey, John H / Bernthal, Nicholas M / Bauer, Sebastian / Schreuder, Hendrik / Leithner, Andreas / Martin-Broto, Javier / Gouin, Francois / Lopez-Bastida, Julio / Gelderblom, Hans / Staals, Eric L / Mercier, Florence / Laeis, Petra / Ye, Xin / van de Sande, Michiel

The oncologist

2023 Volume 28, Issue 6, Page(s) e425–e435

Abstract: Background: The Tenosynovial giant cell tumor Observational Platform Project (TOPP) registry is an international prospective study that -previously described the impact of diffuse-type tenosynovial giant cell tumour (D-TGCT) on patient-reported outcomes ...

Abstract	Background: The Tenosynovial giant cell tumor Observational Platform Project (TOPP) registry is an international prospective study that -previously described the impact of diffuse-type tenosynovial giant cell tumour (D-TGCT) on patient-reported outcomes (PROs) from a baseline snapshot. This analysis describes the impact of D-TGCT at 2-year follow-up based on treatment strategies. Material and methods: TOPP was conducted at 12 sites (EU: 10; US: 2). Captured PRO measurements assessed at baseline, 1-year, and 2-year follow-ups were Brief Pain Inventory (BPI), Pain Interference, BPI Pain Severity, Worst Pain, EQ-5D-5L, Worst Stiffness, and -Patient-Reported Outcomes Measurement Information System. Treatment interventions were no current/planned treatment (Off-Treatment) and systemic treatment/surgery (On-Treatment). Results: A total of 176 patients (mean age: 43.5 years) were included in the full analysis set. For patients without active treatment strategy -(Off-Treatment) at baseline (n = 79), BPI Pain Interference (1.00 vs. 2.86) and BPI Pain Severity scores (1.50 vs. 3.00) were numerically favorable in patients remaining Off-Treatment compared with those who switched to an active treatment strategy at year 1. From 1-year to 2-year -follow-ups, patients who remained Off-Treatment had better BPI Pain Interference (0.57 vs. 2.57) and Worst Pain (2.0 vs. 4.5) scores compared with patients who switched to an alternative treatment strategy. In addition, EQ-5D VAS scores (80.0 vs. 65.0) were higher in patients who remained -Off-Treatment between 1-year and 2-year follow-ups compared with patients who changed treatment strategy. For patients receiving systemic treatment at baseline, numerically favorable scores were seen in patients remaining on systemic therapy at 1-year follow-up: BPI Pain Interference (2.79 vs. 5.93), BPI Pain Severity (3.63 vs. 6.38), Worst Pain (4.5 vs. 7.5), and Worst Stiffness (4.0 vs. 7.5). From 1-year to 2-year follow-up, EQ-5D VAS scores (77.5 vs. 65.0) were higher in patients who changed from systemic treatment to a different treatment strategy. Conclusion: These findings highlight the impact D-TGCT has on patient quality of life, and how treatment strategies may be influenced by these outcome measures. (ClinicalTrials.gov number: NCT02948088).
MeSH term(s)	Humans ; Adult ; Quality of Life ; Prospective Studies ; Giant Cell Tumor of Tendon Sheath/surgery ; Pain ; Patient Reported Outcome Measures
Language	English
Publishing date	2023-03-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1409038-7
ISSN	1549-490X ; 1083-7159
ISSN (online)	1549-490X
ISSN	1083-7159
DOI	10.1093/oncolo/oyad011
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4845: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 494: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito