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Skeletal anomalies represent a characteristic feature of type 1 Gaucher disease (GD1). Here we evaluated the impact of an integrated therapy comprising enzyme-replacement therapy (ERT), cholecalciferol, and a normocalcemic-normocaloric-hyposodic diet (bone diet) on bone health in GD1 patients. We also performed a systematic review to compare our results with available data. From January 1, 2015 to February 28, 2019, all GD1 patients referred to Federico II University were enrolled and treated with the integrated therapy. Bone turnover markers and bone mineral density (BMD) were evaluated at baseline (T0) and after 24 months (T24). We enrolled 25 GD1 patients, all showing 25-hydroxy vitamin D (25OHD) levels < 50 nmol/l (hypovitaminosis D) at T0. Response to cholecalciferol treatment was effective, showing a direct relationship between 25OHD levels before and after treatment. At T0, 2 GD1 patients showed fragility fractures, 5 the Erlenmeyer flask deformity, 3 osteonecrosis, and 7 a BMD Z-score ≤ –2. Overall, GD1 patients with bone anomalies showed higher C-terminal telopeptide levels compared with those without bone anomalies. No new bone anomalies occurred during 2 years of follow-up. At T24, BMD remained stable across the entire study cohort, including in patients with bone anomalies. The systematic review showed that our study is the first that evaluated all bone health parameters. Hypovitaminosis D is prevalent in GD1 patients. The response to cholecalciferol treatment was effective but different to healthy subjects and in patients with metabolic bone disorders. Integrated therapy including ERT, cholecalciferol, and bone diet guarantees bone health. Graphical Abstract [ABSTRACT FROM AUTHOR]

Background: Autologous chondrocyte implantation (ACI) represents a valid surgical option for symptomatic full-thickness chondral lesions of the knee. Here we report long-term clinical and MRI results of first-generation ACI. Materials and Methods: Fifteen patients (mean age 21.3 years) underwent first-generation ACI for symptomatic chondral defects of the knee between 1997 and 2001. The mean size of the lesions was 5.08 cm(2) (range 2-9 cm(2)). Patients were evaluated using the International Knee Documentation Committee (IKDC) Knee Examination Form, the Tegner Activity Scale, and the Knee Injury and Osteoarthritis Outcome Score (KOOS). High-resolution MRI was used to analyze the repair tissue with nine variables (the MOCART scoring system). Results: The mean follow-up period was 148 months (range 125-177 months). ACI resulted in substantial improvements in all clinical outcome parameters, even as much as 12 years after implantation. A significant decrease in the MOCART score was recorded at final measurement. Reoperation was required in 2 patients; failure was caused by partial detachment of the graft in both cases. Conclusion: Autologous chondrocyte implantation is an effective and durable solution for the treatment of large, full-thickness cartilage and osteochondral lesions, even in young and active middle-aged patients. High-resolution MRI is a useful and noninvasive method for evaluating the repaired tissue. Level Of Evidence: IV. [ABSTRACT FROM AUTHOR]

ABSTRACT Introduction Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. Methods We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene. Results We identified heterozygous mutations (c.80C> T; pT27I) in the LMNA gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy. Interestingly, muscle biopsies showed changes consistent with fiber type disproportion (FTD). Conclusions Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with LMNA mutations. Our report further supports this association and suggests inclusion of molecular testing for LMNA in the differential diagnosis of myopathies with FTD due to the risk for life threatening events. Muscle Nerve 51: 604-608, 2015 [ABSTRACT FROM AUTHOR]

Aim We evaluated the prognostic significance of standardized uptake value ( SUVmax), metabolic tumor volume ( MTV), and total lesion glycolysis ( TLG) obtained by F-18 FDG PET/ CT ( PET/ CT) in patients with diffuse large B-cell Lymphomas ( DLBCL) presenting intermediate IPI score. Material and Methods Fifty-two patients (61 ± 13 yr) underwent PET/ CT before the first-line chemotherapy. The mean SUVmax value, the summed MTV (cm3; 42% threshold), and the cumulative TLG (g) were registered. The patients were followed up 18 months thereafter (range 3-41 months). The PET/ CT results were compared to the event-free survival ( EFS). Results At univariate analysis, SUVmax and lactate dehydrogenase ( LDH) levels were predictive, but discordantly. The Kaplan- Meier survival analysis for SUVmax showed a significant better EFS in patients presenting higher values as compared to those having lesser ( P = 0.0002, HR 0.13). Summed MTV and cumulative TLG were not suitable for predicting EFS. Conclusion Despite the availability of new tools for the quantitative assessment of disease activity on PET/ CT, the SUVmax rather than MTV and TLG remains the only predictor for EFS in DLBCL patients. The magnitude of glycolytic activity rather than the amount of metabolically active burden holds a predominant value for determining the response to chemotherapy in DLBCL. [ABSTRACT FROM AUTHOR]

The article focuses on iron overload in haemosiderinuria and iron redistribution in organs due to paroxysmal nocturnal haemoglobinuria by using magnetic resonance imaging in patients on eculizumab. Iron compartmentalization was studied in 20 patients. The calculated iron content (CIC) was compared with tissue specific CICs with measures of iron status and markers of intravascular haemolysis during the study.

Purpose: Sonographic measurement of renal volume is one of the parameters used in the diagnosis of renal transplant dysfunction and in follow-up of patients with renal transplant. The aim of this study was to compare the prolate ellipsoid formula with a new formula in calculating the volume of a transplanted kidney. Methods: The renal volumes in 24 patients with a stable renal transplant were determined sonographically with the ellipsoid formula and via helical CT with the voxel-count method, which is the gold standard. A new formula that uses renal length and the cross-sectional area at the maximum transverse section has been evaluated in a small series of transplanted kidneys. Results: Renal volume was underestimated with the sonographic ellipsoid formula and the new formula. The new formula yielded the lowest underestimation of the mean renal volume, and the measurements obtained with it were not significantly different from those obtained with CT. Conclusions: The use of sonography is appropriate for accurate calculation of renal volume, and the new formula that uses only 2 ultrasound parameters best represents the volume of a renal transplant. [ABSTRACT FROM AUTHOR]

This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities in mucopolysaccharidoses (MPS). The advantages and disadvantages of these different imaging tools will be discussed, along with their feasibility in this class of patients. As the musculoskeletal involvement is common to all MPS and is one of the main reasons for seeking medical attention, an increased awareness among paediatricians, rheumatologists, orthopaedists, radiologists, and other musculoskeletal specialists on the possible spectrum of abnormalities observed could facilitate a timely diagnosis, an appropriate severity evaluation, and better management. [ABSTRACT FROM AUTHOR]