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1.
Cancer ; 130(4): 597-608, 2024 02 15.
Article in English | MEDLINE | ID: mdl-37846799

ABSTRACT

BACKGROUND: The aim of this study was to assess the clinical impact of indeterminate pulmonary nodules (no more than four pulmonary nodules of less than 5 mm or one nodule measuring between 5 and less than 10 mm by computed tomography [CT]) in children and adolescents with adult-type non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) at diagnosis. METHODS: Patients with NRSTS treated in 11 centers as part of the European paediatric Soft Tissue Sarcoma Study Group (EpSSG) were retrospectively assessed. Local radiologists, blinded to clinical information except for patients' age and tumor histotype, reviewed the chest CT at diagnosis and filled out a case report form. Because patients with or without indeterminate nodules in the EpSSG NRSTS 2005 study received the same type of treatment, event-free survival (EFS) and overall survival (OS) between groups by log-rank test were compared. RESULTS: Overall, 206 patients were examined: 109 (52.9%) were without any nodules, 78 (38%) had at least one indeterminate nodule, and 19 (9.2%) had nodules meeting the definition of metastases, which were then considered to be misclassified and were excluded from further analyses. Five-year EFS was 78.5% (95% CI, 69.4%-85.1%) for patients without nodules and 69.6% (95% CI, 57.9%-78.7%) for patients with indeterminate nodules (p = .135); 5-year OS was 87.4% (95% CI, 79.3%-92.5%) and 79.0% (95% CI, 67.5%-86.8%), respectively (p = .086). CONCLUSIONS: This study suggests that survival does not differ in otherwise nonmetastatic patients with indeterminate pulmonary nodules compared to nonmetastatic patients without pulmonary nodules. PLAIN LANGUAGE SUMMARY: Radiologists should be aware of the classification of indeterminate pulmonary nodules in non-rhabdomyosarcoma soft tissue sarcomas and use it in their reports. More than a third of patients with non-rhabdomyosarcoma soft tissue sarcoma can be affected by indeterminate pulmonary nodules. Indeterminate pulmonary nodules do not significantly affect the overall survival of pediatric patients with non-rhabdomyosarcoma soft tissue sarcoma.


Subject(s)
Rhabdomyosarcoma , Sarcoma , Soft Tissue Neoplasms , Humans , Child , Adult , Adolescent , Retrospective Studies , Sarcoma/drug therapy , Rhabdomyosarcoma/therapy , Soft Tissue Neoplasms/pathology , Progression-Free Survival
2.
Radiol Med ; 128(9): 1070-1078, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37458906

ABSTRACT

PURPOSE: To assess the role of muscle composition and radiomics in predicting allograft rejection in lung transplant. MATERIAL AND METHODS: The last available HRCT before surgery of lung transplant candidates referring to our tertiary center from January 2010 to February 2020 was retrospectively examined. Only scans with B30 kernel reconstructions and 1 mm slice thickness were included. One radiologist segmented the spinal muscles of each patient at the level of the 11th dorsal vertebra by an open-source software. The same software was used to extract Hu values and 72 radiomic features of first and second order. Factor analysis was applied to select highly correlating features and then their prognostic value for allograft rejection was investigated by logistic regression analysis (level of significance p < 0.05). In case of significant results, the diagnostic value of the model was computed by ROC curves. RESULTS: Overall 200 patients had a HRCT prior to the transplant but only 97 matched the inclusion criteria (29 women; mean age 50.4 ± 13 years old). Twenty-one patients showed allograft rejection. The following features were selected by the factor analysis: cluster prominence, Imc2, gray level non-uniformity normalized, median, kurtosis, gray level non-uniformity, and inverse variance. The radiomic-based model including also Hu demonstrated that only the feature Imc2 acts as a predictor of allograft rejection (p = 0.021). The model showed 76.6% accuracy and the Imc2 value of 0.19 demonstrated 81% sensitivity and 64.5% specificity in predicting lung transplant rejection. CONCLUSION: The radiomic feature Imc2 demonstrated to be a predictor of allograft rejection in lung transplant.


Subject(s)
Lung Transplantation , Spine , Humans , Female , Adult , Middle Aged , Retrospective Studies , Biomarkers , Muscles , Allografts
3.
Q J Nucl Med Mol Imaging ; 66(3): 272-279, 2022 Sep.
Article in English | MEDLINE | ID: mdl-31602964

ABSTRACT

BACKGROUND: The aim of this study is to evaluate the usefulness of [18F] fluorodeoxyglucose (FDG) positron emission tomography (PET)/magnetic resonance (MR) in large vessels vasculitis (LVV) patients. METHODS: We performed an observational retrospective study based on our records. Images were acquired on a PET/MR scanner using [18F]FDG-PET whole body imaging. For each PET scan, a qualitative analysis and a semi-quantitative measure using the maximum of the standardized uptake value (SUVmax) were performed. SUVmax measurements normalized to the liver uptake were categorized using a grading scale. Vessel's wall thickness (WT) was measured at five fixed points (inferior margin of T5, T9, T12, L3, thickest area [max WT]). RESULTS: Twenty-three LVV patients were included, 56.5% giant cells arteritis, 34.8% Takayasu's arteritis and 8.7% isolated aortitis, all Caucasian, mostly females (82%). We considered 32 PET scans for the LVV group (from a minimum of one to a maximum of three scans per patient) mainly during follow-up (29/32 scans), and 23 PET scans from a control group of non-metastatic malignancies patients. We found higher SUVmax compared to controls, in all sites, irrespective of clinical disease activity. Mean WT resulted higher in patients than in controls but was not correlated to SUVmax. Mean WT positively correlated with age in both cohorts, inversely correlated to disease duration, while no correlation with SUVmax was observed. The concordance between clinically active disease and PET hypermetabolism was poor (Cohen' κ=0.33). CONCLUSIONS: PET/MR is a safe imaging technique capable of detecting inflammation in aortic wall. Low radiological exposure of PET/MR should be considered especially in young women receiving follow-up studies.


Subject(s)
Arteritis , Fluorodeoxyglucose F18 , Female , Humans , Magnetic Resonance Spectroscopy , Male , Positron-Emission Tomography/methods , Radiopharmaceuticals , Retrospective Studies
4.
Clin Exp Rheumatol ; 40(5): 904-912, 2022 May.
Article in English | MEDLINE | ID: mdl-34128806

ABSTRACT

OBJECTIVES: Bone scintigraphy (BS) is a sensitive tool that provides functional imaging to evaluate bone abnormalities in psoriatic arthritis (PsA). Our aims were to analyse the prevalence of increased BS uptake in the midfoot of PsA patients and to evaluate whether BS midfoot abnormalities could herald ultrasonography (US) and x-ray lesions in the same site. METHODS: Out of 88 consecutive BS performed in patients with early musculoskeletal symptoms (January-December 2010) and retrospectively analysed, 32 exams were carried out on subjects 3 months after being diagnosed with PsA. These patients were included in a retrospective study and analysed for BS feet uptake. Their baseline x-rays of the feet were also retrieved. Five years after BS (January-December 2015) all 32 PsA patients underwent clinical evaluation, x-rays and US of the feet. Frequency and percentage of each imaging abnormality of the midfoot were analysed. Clinical, functional and laboratory indexes were collected and correlations between clinical and imaging parameters were studied. RESULTS: Of all 32 PsA patients, 21 (65.6%) had an increased BS uptake in the midfoot, without any baseline x-ray abnormalities. After 5 years, the x-rays and US were able to detect ≥1 lesion in the midfoot of 14/32 (43.8%) and 28/32 (87.5%) patients, respectively. A high prevalence of enthesophytes in all 64 midfeet was shown by both x-rays (40.6%) and US (81.6%). We found a higher prevalence of structural lesions in the subgroup with BS positive midfoot compared with BS negative patients: x-rays [10/21 (47.6%) vs. 4/11 (36.4%); p=0.04] and US [19/21 (90.5%) vs. 8/11 (72.7%); p=0.04]. CONCLUSIONS: Midfoot involvement is frequent in PsA. BS increased uptake in the midfoot seems to be an early sign of the disease.


Subject(s)
Arthritis, Psoriatic , Enthesopathy , Arthritis, Psoriatic/diagnostic imaging , Arthritis, Psoriatic/epidemiology , Enthesopathy/diagnostic imaging , Enthesopathy/epidemiology , Humans , Retrospective Studies , Ultrasonography
5.
Radiol Med ; 126(6): 878-885, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33683542

ABSTRACT

PURPOSE: To assess the relationship between apparent diffusion coefficients (ADC) and standard uptake values (SUV) of pediatric sarcomas at staging by using volumetric histograms analyses. METHODS: Children with histologically proven sarcoma, referring to our tertiary center for a whole-body 18F-FDG PET/MRI for staging and including diffusion weighted imaging in the MRI protocol were investigated. Firstly, turbo inversion recovery magnitude (TIRM) and PET images were resliced and resampled according to the ADC maps. Regions of interests were drawn along tumor margins on TIRM images and then copied on PET and ADC datasets. Pixel-based SUVs and ADCs were collected from the entire volume of each lesion. Mean, median, skewness, and kurtosis of SUVs and ADCs values were computed, and the Pearson correlation coefficient was then applied (for the entire population and for histological subgroups with more than five patients). RESULTS: Thirteen patients met the inclusion criteria (six females; mean age 8.31 ± 6.03 years). Histology revealed nine rhabdomyosarcomas, three Ewing sarcomas, and one chondroblastic osteosarcoma. A significant negative correlation between ADCs' and SUVs' mean (rmean = - 0.501, P < 0.001), median (rmedian = - 0.519, P < 0,001), and skewness (rskewness = - 0.550, P < 0.001) emerged for the entire population and for rhabdomyosarcomas (rmean = - 0.541, P = 0.001, rmedian = - 0.597, P < 0.001, rskewness = - 0.568, P < 0.001), whereas a significant positive correlation was found for kurtosis (rkurtosis = 0.346, P < 0.001, and rkurtosis = 0.348, P < 0.001 for the entire population and for rhabdomyosarcomas, respectively). CONCLUSION: Our preliminary results demonstrate that, using volumetric histograms, simultaneously collected SUVs and ADCs are dependent biomarkers in pediatric FDG-avid sarcomas. Further studies, on a larger population, are necessary to confirm this evidence and assess its clinical implications.


Subject(s)
Bone Neoplasms/diagnosis , Magnetic Resonance Imaging/methods , Positron-Emission Tomography/methods , Sarcoma/diagnosis , Child , Female , Follow-Up Studies , Humans , Male , Retrospective Studies
6.
Hum Mol Genet ; 27(13): 2262-2275, 2018 07 01.
Article in English | MEDLINE | ID: mdl-29648648

ABSTRACT

Skeletal abnormalities represent a major clinical burden in patients affected by the lysosomal storage disorder mucopolysaccharidosis type II (MPSII, OMIM #309900). While extensive research has emphasized the detrimental role of stored glycosaminoglycans (GAGs) in the bone marrow (BM), a limited understanding of primary cellular mechanisms underlying bone defects in MPSII has hampered the development of bone-targeted therapeutic strategies beyond enzyme replacement therapy (ERT). We here investigated the involvement of key signaling pathways related to the loss of iduronate-2-sulfatase activity in two different MPSII animal models, D. rerio and M. musculus. We found that FGF pathway activity is impaired during early stages of bone development in IDS knockout mice and in a newly generated Ids mutant fish. In both models the FGF signaling deregulation anticipated a slow but progressive defect in bone differentiation, regardless of any extensive GAGs storage. We also show that MPSII patient fibroblasts harboring different mutations spanning the IDS gene exhibit perturbed FGF signaling-related markers expression. Our work opens a new venue to discover possible druggable novel key targets in MPSII.


Subject(s)
Brain/metabolism , Fibroblast Growth Factors/genetics , Iduronate Sulfatase/genetics , Mucopolysaccharidosis II/genetics , Animals , Brain/pathology , Disease Models, Animal , Enzyme Replacement Therapy , Gene Expression Regulation , Glycosaminoglycans/genetics , Humans , Iduronate Sulfatase/therapeutic use , Mice , Mice, Knockout , Mucopolysaccharidosis II/pathology , Signal Transduction , Zebrafish/genetics
7.
Eur Radiol ; 30(7): 4091-4097, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32144460

ABSTRACT

OBJECTIVES: Juvenile localized scleroderma (JLS) is a rare chronic autoimmune disease which can also affect bones and muscles. Nevertheless, muscle loss was not previously investigated in patients with JLS. Thus, the aim of this study was to retrospectively evaluate deep involvement and assess and quantify sarcopenia in JLS patients using magnetic resonance imaging (MRI). METHODS: Fourteen children with JLS (nine females, mean age ± SD, 7.1 ± 3.6 years) referring to our tertiary center from January 2012 to January 2018 who underwent at least one MRI examination including axial T1-weighted and short tau inversion recovery images were included. Two readers assessed in consensus superficial and deep involvement. Muscle edema, muscle fatty infiltration, and sarcopenia were independently scored (absent, moderate, or severe) and the Cohen's kappa coefficient computed. Skin perimeter, subcutaneous area, muscle area, and muscle volume were independently measured using the contralateral unaffected extremity as reference (paired Student's t test, p < 0.05). The intraclass correlation coefficient (ICC) was used to investigate the reliability of the measurements. RESULTS: All patients showed superficial involvement with subcutaneous fat atrophy being the most common finding (13 patients). Bone marrow edema occurred in five patients. Muscle edema affected ten children (moderate in seven, severe in three; k = 0.89), muscle fatty replacement occurred in one case (severe; k = 1.00), and sarcopenia was detected in eight patients (severe in two; k = 0.78). All quantitative parameters were lower on the affected side than on the unaffected contralateral limb (p < 0.05, each) and all measurements showed a high reliability (ICC > 0.750, each). CONCLUSION: Patients with JLS can be affected by sarcopenia and quantitative analyses allow a robust characterization of such finding. KEY POINTS: • Deep involvement in juvenile localized scleroderma is frequently characterized by sarcopenia. • In juvenile localized scleroderma, muscle edema and sarcopenia are mostly moderate while fatty infiltration, even if rare, can be severe. • Sarcopenia can be reliably quantified in children with juvenile localized scleroderma using MRI.


Subject(s)
Magnetic Resonance Imaging , Sarcopenia/diagnostic imaging , Sarcopenia/pathology , Scleroderma, Localized/diagnostic imaging , Scleroderma, Localized/pathology , Child , Female , Humans , Lower Extremity/diagnostic imaging , Male , Reproducibility of Results , Retrospective Studies
8.
Eur Radiol ; 30(4): 2209-2219, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31834507

ABSTRACT

AIM OF THE STUDY: Skeletal muscle metastases (SMM) are a rare entity, mainly detected at autopsy. Nevertheless, radiological and nuclear medicine imaging can contribute to the diagnosis with a significant impact on the treatment and prognosis of neoplastic patients. This study aimed to systematically review the features of SMM at imaging considering the primary tumors and the sites of occurrence. MATERIALS AND METHODS: We conducted a systematic search of three electronic database (i.e., PubMed, Science Direct, and Web of Science) up to May 2019, without any language or time interval restriction. Two reviewers performed the search and selection process, data extraction, and synthesis. We resolved disagreements by consensus and/or involving a third reviewer. The included studies have been classified according to the Oxford Centre for Evidence Based Medicine (CEBM) grading system. RESULTS: Out of 8598 and 1077 articles respectively for radiological and hybrid imaging, 29 papers were included. According to CEBM, twelve were level 4. Computed tomography (CT) is mainly applied and, despite the existence of CT and magnetic resonance-based classifications, these are rarely used. Positron emission tomography/CT allowed the detection of small and subtle lesion also in the extremities. Muscles of the trunk were mostly affected and mainly respiratory tumors are associated with this type of metastatic spread. CONCLUSION: Radiological and hybrid imaging allow a precise characterization of SMM. However, a more systematic approach, including also the application of available classification systems, may increase the diagnostic accuracy for this rare type of metastases. KEY POINTS: • Skeletal muscle metastases have heterogeneous characteristics at imaging but mostly abscess-like features and high metabolic activity are described. • Skeletal muscle metastases mainly affect the muscles of the trunk. • Pulmonary, urological, and gastrointestinal cancers are the most frequent cause of skeletal muscle metastases.


Subject(s)
Muscle Neoplasms/diagnostic imaging , Muscle Neoplasms/secondary , Muscle, Skeletal/diagnostic imaging , Gastrointestinal Neoplasms/pathology , Humans , Lung Neoplasms/pathology , Magnetic Resonance Imaging , Multimodal Imaging , Neoplasms, Unknown Primary , Positron Emission Tomography Computed Tomography , Positron-Emission Tomography , Prognosis , Tomography, X-Ray Computed , Torso , Urologic Neoplasms/pathology
9.
Am J Otolaryngol ; 41(1): 102322, 2020.
Article in English | MEDLINE | ID: mdl-31732312

ABSTRACT

PURPOSE: The main aim of this study was to conduct a preliminary investigation into the possible relationship between mTOR and the nuclear tumor suppressor maspin in laryngeal carcinoma (LSCC). MATERIALS AND METHODS: mTOR expression and maspin pattern were ascertained, also with the aid of image analysis in 79 consecutive LSCCs. RESULTS: Considering the whole series, univariate statistical analysis identified significant differences in the distributions by lymph node status (N0 vs N+) between two subgroups of patients with and without loco-regional carcinoma recurrences (p = 0.017). The log-rank test also showed a shorter disease-free survival (DFS) in pN+ patients (p = 0.0008). mTOR expression was significantly higher in patients whose disease recurred (p = 0.009). The DFS rate was also significantly shorter in cases of LSCC with an mTOR expression ≥11.55% (p = 0.049). Multivariate analysis showed that N status (p = 0.002) and mTOR expression (p = 0.037) retained their prognostic significance in relation to cancer recurrence. In a subgroup of LSCCs with a non-nuclear maspin pattern, mTOR expression was significantly higher in patients whose disease recurred. Multivariate analysis disclosed that N stage (p = 0.012) retained its independent prognostic significance for disease recurrence in this setting. mTOR expression showed a trend towards independent significance in terms of carcinoma recurrence (p = 0.083). CONCLUSIONS: mTOR inhibitors seem promising for use in cancer therapies. Further investigations are needed on the prospects of incorporating modern mTOR inhibitors in multimodality or multitarget strategies against advanced LSCCs, also considering the role and expression of tumor suppressor genes.


Subject(s)
Laryngeal Neoplasms/metabolism , Serpins/metabolism , TOR Serine-Threonine Kinases/metabolism , Aged , Biomarkers, Tumor/metabolism , Disease-Free Survival , Female , Humans , Lymphatic Metastasis , Male , Middle Aged , Neoplasm Recurrence, Local , Prognosis
10.
Radiol Med ; 125(5): 514-516, 2020 May.
Article in English | MEDLINE | ID: mdl-32350796

ABSTRACT

The current global outbreak of COVID-19 represents a major challenge in terms of epidemiology, contagiousness, treatment, as well as clinical and radiological behavior of this disease. Radiological imaging plays a key role in the diagnostic process and during the monitoring of the clinical conditions especially of patients with severe symptoms. According to the preliminary data collected in our tertiary center, we have documented a peculiar behavior in patients requiring endotracheal intubation who underwent seriate chest X-rays. In fact, the radiological pattern of COVID-19 patients may worsen despite a prompt amelioration after the onset of mechanical ventilation. Thus, according to our initial evidence, we recommend to perform seriate chest X-rays in the days following the onset of mechanical ventilation even if the immediate monitoring suggests an improvement. Studies on a larger scale are necessary to fully assess the findings at chest radiographs of critical, mechanically ventilated patients and their correlation with the long-term outcome.


Subject(s)
Betacoronavirus , Coronavirus Infections/diagnostic imaging , Pneumonia, Viral/diagnostic imaging , Adult , Aged , Aged, 80 and over , COVID-19 , Coronavirus Infections/therapy , Female , Humans , Male , Middle Aged , Pandemics , Pneumonia, Viral/therapy , Radiography, Thoracic , Respiration, Artificial , SARS-CoV-2 , Severity of Illness Index
11.
Radiol Med ; 125(7): 691-694, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32500510

ABSTRACT

The current COVID-19 outbreak is requiring a tremendous effort not only regarding the diagnostic and therapeutic approach but also in terms of global management of the delivered care. Hospital administrations had to provide a prompt response to a rapidly evolving emergency characterized by the necessity of giving access to an enormous number of infected patients, guaranteeing appropriate care to patients in need of other types of treatment, and simultaneously preserving the well-being of healthcare providers. To optimize the diagnostic pathway during the current COVID-19 outbreak, the hospital administration of our tertiary center applied a highly structured framework assigning specific tasks to the different units composing the Department of Imaging. In particular, since the beginning of the pandemic, a mobile CT scanner in a truck was rented and became operative for all patients with a confirmed diagnosis of COVID-19 and another CT was assigned for all suspected cases. The success and efficacy of the management applied by our administration is demonstrated by the fact that during the outbreak, the radiological workflow was never interrupted. In fact, despite the national lockdown only a 29.3% decrease of CT scans occurred compared to the previous year. Moreover, none of the healthcare providers of the Department contracted the infection at work. Thus, according to the experience gained in our center, we recommend to all hospital administrations facing the COVID-19 outbreak to promptly adapt their resources, creating precise and safe pathways for their diagnostic units.


Subject(s)
Coronavirus Infections/diagnostic imaging , Pneumonia, Viral/diagnostic imaging , Radiography, Thoracic/methods , Radiology Department, Hospital/organization & administration , Tomography, X-Ray Computed/methods , COVID-19 , Coronavirus Infections/epidemiology , Diagnosis, Differential , Humans , Italy/epidemiology , Mobile Health Units , Pandemics , Pneumonia, Viral/epidemiology , Safety Management , Universal Precautions , Workflow
12.
Radiol Med ; 125(12): 1216-1224, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32410063

ABSTRACT

PURPOSE: To determine whether MRI T2-weighted sequences-based texture analysis (TA) can predict histopathological tumor regression grade (TRG) in patients with locally advanced rectal cancer (LARC) undergoing neoadjuvant chemo-radiotherapy (nCRT). METHODS: Data on patients undergoing curative-intent surgery for LARC were collected. Patients with a complete pathological response, or TRG1 according to Mandard's system were classified as responders, while patients with TRG ≥ 2 were classified as non-responders. Tumor TA was performed on each patient's paraxial T2w MRI in both pre- and post-nCRT scans, in order to extract histograms, gray-level co-occurrence matrix (GLCM) and run-length matrix (RLM) texture parameters. For features that showed a significant difference between the two groups, a receiver operating characteristic (ROC) curve was drawn. RESULTS: Overall, 62 patients with LARC, treated with nCRT and resective surgery at our institution between 2013 and 2019 were identified. Only post-nCRT GLCM maximum probability showed a significant difference between the two groups (2909 ± 4479 in responders vs. 6515 ± 8990 in non- responders; p = 0.039); at the ROC curve, Youden index showed a sensitivity of 14% and a specificity of 100% for this parameter. CONCLUSIONS: MRI T2-weighted sequences-based TA was not effective in predicting pathological complete response to nCRT in patients with LARC. Further studies are needed to thoroughly investigate the potential of MRI TA in this setting.


Subject(s)
Chemoradiotherapy, Adjuvant , Magnetic Resonance Imaging/methods , Neoadjuvant Therapy/methods , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/therapy , Adult , Antimetabolites, Antineoplastic/administration & dosage , Capecitabine/administration & dosage , Female , Fluorouracil/administration & dosage , Humans , Male , Middle Aged , ROC Curve , Radiotherapy Dosage , Rectal Neoplasms/pathology , Rectal Neoplasms/surgery , Retrospective Studies , Sensitivity and Specificity , Treatment Outcome
13.
J Neurol Neurosurg Psychiatry ; 89(10): 1071-1081, 2018 10.
Article in English | MEDLINE | ID: mdl-29735511

ABSTRACT

BACKGROUND AND OBJECTIVE: Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests. METHODS: We present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed. RESULTS: In 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialis and the soleus being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment. CONCLUSIONS: The information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials. CLINICAL TRIAL REGISTRATION: NCT01676077.


Subject(s)
Muscle, Skeletal/diagnostic imaging , Muscular Dystrophies, Limb-Girdle/diagnostic imaging , Adult , Cross-Sectional Studies , Female , Humans , Longitudinal Studies , Magnetic Resonance Imaging , Male , Middle Aged
14.
J Pediatr ; 182: 327-334.e2, 2017 03.
Article in English | MEDLINE | ID: mdl-27939125

ABSTRACT

OBJECTIVES: To compare 3 methods of dimensional assessment, with particular attention to a new software assisted method of volume calculation, in soft tissue sarcoma, and to investigate the interobserver agreement and the intermethod agreement in chemotherapy response classification and resultant clinical repercussions. STUDY DESIGN: We studied 34 pediatric patients with nonmetastatic soft tissue sarcoma who had undergone only diagnostic biopsy. Tumor size was measured both at diagnosis and after induction chemotherapy by 3 observers and using 3 measurement methods: maximum axis (1 diameter), estimated volume (3 diameters), and computed volume (software-assisted volume calculation). We used overall concordance correlation coefficient and Bland-Altman statistical methods to assess interobserver agreement and overall concordance correlation coefficient and the κ Cohen coefficient to assess intermethod agreement. RESULTS: According to overall concordance correlation coefficient, the interobserver agreement was very high for each method, with a slight superiority of the software assisted method; this agreement was not confirmed in Bland-Altman plots for maximum axis and estimated volume methods. According to kappa coefficients, the intermethod agreement in chemotherapy response evaluation was poor. CONCLUSIONS: Computed volume was the most accurate method in soft tissue sarcoma tumor size assessment. One- and 3-dimensional methods are not concordant in chemotherapy response classification. In particular, the maximum axis method underestimates chemotherapy response and can lead to switching the chemotherapy regimen erroneously.


Subject(s)
Image Interpretation, Computer-Assisted , Imaging, Three-Dimensional , Magnetic Resonance Imaging/methods , Sarcoma/diagnostic imaging , Sarcoma/drug therapy , Tomography, X-Ray Computed/methods , Adolescent , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Child , Child, Preschool , Cohort Studies , Disease-Free Survival , Female , Follow-Up Studies , Humans , Infant , Male , Observer Variation , Registries , Retrospective Studies , Rhabdomyosarcoma/diagnostic imaging , Rhabdomyosarcoma/drug therapy , Rhabdomyosarcoma/mortality , Risk Assessment , Sarcoma/mortality , Survival Analysis , Treatment Outcome , Tumor Burden
15.
Rheumatology (Oxford) ; 56(8): 1320-1325, 2017 08 01.
Article in English | MEDLINE | ID: mdl-28431141

ABSTRACT

Objectives: To investigate power Doppler (PD) signal, grade and location and their association with radiographic progression in RA patients in remission. Methods: A prospective observational study was conducted in 125 consecutive RA patients in stable 28-joint DAS (DAS28) remission (⩾6 months) achieved on anti-TNF-α. At baseline, patients in stable remission underwent radiographic and US examination of the wrists and MCP, PIP and MTP joints. Semi-quantitative PD scoring (0-3) was recorded. We scored PD according to two locations: capsular or within synovial tissue without bone contact (location 1) and with bone contact or penetrating bone cortex (location 2). Radiographic progression was evaluated at the 1 year follow-up and defined as a change in van der Heijde-modified total Sharp score >0. Risk ratios (RRs) of radiographic progression according to presence, grade and location of PD were calculated. Results: Four patients were excluded because of missing data. At baseline, 59/121 (48.7%) patients had a PD signal in one or more joints. PD location 2 was found in 74.6% patients (44/59). At the 1 year follow-up, 17/121 patients experienced radiographic progression: all had PD signal in one or more joints at baseline (RR 2.47, P < 0.0001). Radiographic progression was associated with the following baseline US features: PD grade 2 (RR 4.58, P < 0.01), PD grade 3 (RR 3.49, P < 0.05), total PD score ⩾2 (sum of all PD scores) (RR 3.19, P < 0.0001) and PD location 2 (RR 3.49, P < 0.0001). Conclusion: Higher PD grades and PD in contact with/or penetrating bone are associated with radiographic progression in patients in DAS28 remission.


Subject(s)
Arthritis, Rheumatoid/diagnostic imaging , Disease Progression , Severity of Illness Index , Adult , Aged , Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/drug therapy , Arthritis, Rheumatoid/pathology , Female , Follow-Up Studies , Hand Joints/diagnostic imaging , Hand Joints/pathology , Humans , Male , Middle Aged , Prospective Studies , Radiography/methods , Remission Induction/methods , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Ultrasonography, Doppler/methods , Wrist Joint/diagnostic imaging , Wrist Joint/pathology
16.
Neurogenetics ; 17(1): 65-70, 2016 01.
Article in English | MEDLINE | ID: mdl-26556812

ABSTRACT

Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.


Subject(s)
Hydro-Lyases/genetics , MELAS Syndrome/genetics , MELAS Syndrome/pathology , Adult , DNA Mutational Analysis , Female , Humans , Hydro-Lyases/chemistry , Magnetic Resonance Imaging , Mitochondrial Myopathies/genetics , Mitochondrial Myopathies/pathology , Models, Molecular , Mutation , Protein Conformation , Survivors , Syndrome
19.
Clin Exp Rheumatol ; 33(1): 63-8, 2015.
Article in English | MEDLINE | ID: mdl-25535985

ABSTRACT

OBJECTIVES: This prospective long-term follow-up study evaluated the effects of half-dose etanercept (25 mg weekly) on clinical remission and radiographic progression in a large cohort of patients with rheumatoid arthritis (RA) in clinical remission after etanercept 25 mg bi-weekly. METHODS: 524 biologic-naïve RA patients were treated with etanercept 25 mg bi-weekly after failure of conventional drugs. Patients achieving remission (DAS28 <2.6) for ≥12 months were randomised to receive etanercept 25 mg weekly or 25 mg bi-weekly. Patients were assessed at baseline and every 12 weeks. Remission rates, radiographic progression, incidence of infections and costs of the regimens were compared. RESULTS: After a mean follow-up of 18±11 months, 347 patients (66.2%) achieved DAS28 remission; 323 were randomised to one of two dose regimens: etanercept 25 weekly (group A, 159 patients) and etanercept 25 mg bi-weekly (group B, 164 patients). At the end of follow-up, 81.8% patients of group A maintained remission for a mean of 3.6±1.5 years. Radiographic progression occurred in a small number of patients of group A and the rate of radiographic progression (TSS >0) was not significantly different in the two groups (18.85% vs. 19.0% after the first year and 16.9% vs. 21.6% after the second year, respectively). The incidence ratio of severe infections was 2.3/1.000 patient-years in group A. Etanercept half-dose regimen resulted in a saving of €3.190.545 with a cost saving up to €827.318 per year. CONCLUSIONS: Clinical remission and arrest of radiographic progression persisted in a substantial percentage of patients with RA even after reduction of standard-dose etanercept.


Subject(s)
Antirheumatic Agents/administration & dosage , Arthritis, Rheumatoid/drug therapy , Immunoglobulin G/administration & dosage , Joints/drug effects , Receptors, Tumor Necrosis Factor/administration & dosage , Adult , Aged , Antirheumatic Agents/adverse effects , Antirheumatic Agents/economics , Arthritis, Rheumatoid/diagnostic imaging , Arthritis, Rheumatoid/economics , Arthritis, Rheumatoid/immunology , Arthrography , Communicable Diseases/chemically induced , Communicable Diseases/immunology , Cost Savings , Cost-Benefit Analysis , Disease Progression , Drug Administration Schedule , Drug Costs , Etanercept , Female , Follow-Up Studies , Humans , Immunoglobulin G/adverse effects , Immunoglobulin G/economics , Italy , Joints/pathology , Male , Middle Aged , Predictive Value of Tests , Prospective Studies , Remission Induction , Time Factors , Treatment Outcome
20.
Am J Otolaryngol ; 36(4): 559-64, 2015.
Article in English | MEDLINE | ID: mdl-25630849

ABSTRACT

OBJECTIVES: Before the widespread use of antibiotics, most deep neck infections (DNIs) stemmed from complicated pharyngeal infections. Nowadays, they seem to be due mainly to dental infections. In 2010, our group reported that DNIs originated from a major salivary gland in 14% of cases. The main endpoint of the present investigation was to review our experience of the diagnosis and treatment of DNIs of salivary gland origin. We also compared the characteristics of DNIs originating from salivary glands with those originating elsewhere. METHODS: Between 2000 and 2011, 44 patients were treated for DNIs of salivary origin at our institution. These patients were compared with 191 cases of DNI diagnosed as having other sites of origin. RESULTS/CONCLUSIONS: In the present series, DNIs originating from a major salivary gland accounted for 19% of all cases of DNI of known origin. Patients with DNI of salivary gland origin were more likely to be elderly than those whose DNI originated from elsewhere (p=0.000). Our multivariate statistical model showed that comorbidities (p=0.051, statistical trend) and the need for surgical treatment (p=0.028) independently predicted long-term hospitalization for DNIs originating from a major salivary gland.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Drainage/methods , Peritonsillar Abscess/epidemiology , Retropharyngeal Abscess/epidemiology , Risk Assessment , Aged , Aged, 80 and over , Bacterial Infections , Female , Humans , Incidence , Italy/epidemiology , Male , Middle Aged , Neck , Peritonsillar Abscess/diagnosis , Peritonsillar Abscess/therapy , Prognosis , Retropharyngeal Abscess/diagnosis , Retropharyngeal Abscess/therapy , Retrospective Studies , Severity of Illness Index , Tomography, X-Ray Computed , Treatment Outcome
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