Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study.

Costello syndrome (CS) is a neurodevelopmental disorder with a distinctive musculoskeletal phenotype and reduced bone mineral density (BMD) caused by activating de novo mutations in the HRAS gene. Herein, we report the results of a prospective study evaluating the efficacy of a 4-year vitamin D supplementation on BMD and bone health. A cohort of 16 individuals ranging from pediatric to adult age with molecularly confirmed CS underwent dosages of bone metabolism biomarkers (serum/urine) and dual-energy X-ray absorptiometry (DXA) scans to assess bone and body composition parameters. Results were compared to age-matched control groups. At baseline evaluation, BMD was significantly reduced (p ≤ 0.05) compared to controls, as were the 25(OH)vitD levels. Following the 4-year time interval, despite vitamin D supplementation therapy at adequate dosages, no significant improvement in BMD was observed. The present data confirm that 25(OH)vitD and BMD parameters are reduced in CS, and vitamin D supplementation is not sufficient to restore proper BMD values. Based on this evidence, routine monitoring of bone homeostasis to prevent bone deterioration and possible fractures in adult patients with CS is highly recommended.

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.

Cardio-facio-cutaneous syndrome (CFCS) is a rare disorder characterized by distinctive craniofacial appearance, cardiac, neurologic, cutaneous, and musculoskeletal abnormalities. It is due to heterozygous mutations in BRAF, MAP2K1, MAP2K2, and KRAS genes, belonging to the RAS/MAPK pathway. The role of RAS signaling in bone homeostasis is highly recognized, but data on bone mineral density (BMD) in CFCS are lacking. In the present study we evaluated bone parameters, serum and urinary bone metabolites in 14 individuals with a molecularly confirmed diagnosis of CFCS. Bone assessment was performed through dual X-ray absorptiometry (DXA); height-adjusted results were compared to age- and sex-matched controls. Blood and urinary bone metabolites were also analyzed and compared to the reference range. Despite vitamin D supplementation and almost normal bone metabolism biomarkers, CFCS patients showed significantly decreased absolute values of DXA-assessed subtotal and lumbar BMD (p ≤ 0.05), compared to controls. BMD z-scores and t-scores (respectively collected for children and adults) were below the reference range in CFCS, while normal in healthy controls. These findings confirmed a reduction in BMD in CFCS and highlighted the importance of monitoring bone health in these affected individuals.

Spinal fractures in patients with ankylosing spondylitis.

The ankylosed spine is prone to fracture even after minor trauma due to its changed biomechanical properties. The two central features of ankylosing spondylitis (AS) that promote the pathological remodeling of the spine are inflammation and new bone formation. AS is also associated with osteoporosis that is attributed to an uncoupling of the bone formation and bone resorption processes. Therefore, bone resorption occurs and promotes weakening of the spine as well as increased risk of vertebral fractures which can be hugely different in terms of clinical relevance. Even in the presence of symptomatic clinical vertebral fractures, the diagnosis can be overruled by attributing the pain to disease activity. Furthermore, given the highly abnormal structure of the spine, vertebral fracture diagnosis can be difficult on the basis of radiography alone. CT can show the fractures in detail. Magnetic resonance imaging is considered the method of choice for the imaging of spinal cord injuries, and a reasonable option for exclusion of occult fractures undetected by CT. Since it is equally important for radiologists and clinicians to have a common knowledge base rather than a compartmentalized view, the aim of this review article was to provide the required clinical knowledge that radiologists need to know and the relevant radiological semiotics that clinicians require in diagnosing clinically significant injury to the ankylosed spine.

Sonoelastography for qualitative and quantitative evaluation of superficial soft tissue lesions: a feasibility study.

OBJECTIVES: To evaluate the feasibility of qualitative and quantitative analysis using sonoelastography (SE) for differentiating between benign and malignant superficial soft-tissue lesions. METHODS: For this prospective study, 32 patients with superficial soft-tissue lesions detected with grey-scale ultrasound and colour and/or power Doppler ultrasound were evaluated between October 2011 and December 2012. Qualitative analysis: visual grading system was adopted according to colour variation (red-soft, green-medium, blue-hard). Quantitative analysis: median and fraction area of each colour were computed within a region of interest. Differences between fraction areas and median values in compression and decompression phases were calculated. Reference standard: histological findings. RESULTS: Twelve out of 32 lesions (37.5%) were malignant. Intraclass correlation coefficient (ICC) was 0.989 (95% confidence interval [CI] 0.980-0.994, P < 0.01) with optimal reliability. Area under the curve was 0.823 (95% CI 0.677-0.969) and 0.958 (95% CI 0.989-1.019) for blue and blue area differences, and 0.777 (95% CI 0.615-0.939) and 0.629 (95% CI 0.426-0.833) for red and red area differences, respectively. Blue variations predicted malignancy more accurately (variation ≥0.431: 100% sensitivity, 80% specificity); the blue area difference was highly accurate. CONCLUSIONS: Preliminary results showed good correlations between SE and reference standards. SE could be useful in the evaluation of superficial soft tissue lesions. KEY POINTS: • Sonoelastography helps clarify ambiguous soft-tissue lesions identified using conventional ultrasound techniques. • Addition of this tool increases the diagnostic accuracy of ultrasound. • Sonoelastography provides both qualitative and quantitative analysis. • Sonoelastography may help clinicians improve patient care.

Clinical and radiological risk factors for poor outcomes in patients with spontaneous muscle hematomas.

PURPOSE: Spontaneous muscle hematomas (SMH) are frequently seen in the Emergency Department (ED), particularly as a complication of anticoagulation treatments. To date, there are no standard guidelines for the management of this condition in the ED. This work aims to identify clinical-radiological parameters of SMH at risk of poor outcomes. METHOD: This is a retrospective, observational cohort study conducted in an urban teaching hospital from 2016 to 2019. A multivariate logistic regression analysis was performed to identify parameters independently associated with an adverse outcome defined as the need for treatment (blood products, TAE, surgery) or hospitalization. The parameters analyzed were hematoma size, anticoagulation therapy, age, and the Charlson Comorbidity Index (CCI). ROC analysis was performed to identify the best cut-off hematoma size value to predict poor outcomes. RESULTS: Our study enrolled 231 patients aged between 18 and 96 years, with a mean age of 67 years. In our population, 125 patients (54.1 % %) were on anticoagulant therapy. Multivariate analysis showed that an SMH diameter > 5.5 cm was independently associated with poor outcome ((odds Ratio [95 % CI] 4,009 [1,786-9,001], p 0.001). Among clinical parameters, only advanced age was proved to be an independent predictor of adverse outcomes (odds Ratio [95 % CI] 1,035 [1,003-1,069], p = 0.033) CONCLUSIONS: Our data suggest that an SMH diameter greater than 5.5 cm on a CT scan and advanced age are predictors of poor outcomes. Surprisingly, anticoagulant therapy seems to play a minor role in the outcome of SMHs.

Primary lymphoma of the female urethra.

The case of a 69-year-old female patient come to our observation with the diagnosis of non-Hodgkin's lymphoma on histology and cystoscopy is discussed. Symptoms were characterized by dysuria, vaginal spotting and abdominal pain. CT and NMR for staging and control CT during chemotherapy were performed. They documented marked reduction of the neoformation protruding into the bladder and concentric urethral thickening associated with volumetric stability of intercavoaortic lymph node involvement and stable condition of the other localizations.

Uncovertebral joint injury in cervical facet dislocation: the headphones sign.

The purpose of our study is to demonstrate the uncovertebral mal-alignment as a reliable indirect sign of cervical facet joint dislocation. We examined the uncovertebral axial plane alignment of 12 patients with unilateral and bilateral cervical facet joint dislocation (UCFJD and BCFJD, respectively), comparing its frequency to the reverse hamburger bun sign on CT and MR axial images. Of the seven cases with BCFJD, five clearly demonstrated the diagnostic reverse facet joint hamburger bun sign on CT and MR images, but in two cases this sign was not detectable. In the five cases with UCFJD, four demonstrated the reverse hamburger bun sign on both CT and MRI. In one case the reverse hamburger bun sign was not seen adequately with either image modality, but the facet dislocation was identified on sagittal imaging. The uncovertebral mal-alignment was detected in all 12 cases. Normally, the two components of the uncovertebral joint enjoy a concentric relationship that in the axial plane is reminiscent of the relationship of headphones with the wearer's head. We name this appearance the 'headphones' sign. Radiologists should be aware of the headphones sign as a reliable indicator of facet joint dislocation on axial imaging used in the assessment of cervical spine injuries.