It is known from previous literature that type II Spinal Muscular Atrophy (SMA) patients generally, after the age of 5 years, presents a steep deterioration until puberty followed by a relative ...stability, as most abilities have been lost. Although it is possible to identify points of slope indicating early improvement, steep decline and relative stabilizations, there is still a lot of variability within each age group and it's not always possible to predict individual trajectories of progression from age only. The aim of the study was to develop a predictive model based on machine learning using an XGBoost algorithm for regression and report, explore and quantify, in a single centre longitudinal natural history study, the influence of clinical variables on the 6/12-months Hammersmith Motor Functional Scale Expanded score prediction (HFMSE). This study represents the first approach to artificial intelligence and trained models for the prediction of individualized trajectories of HFMSE disease progression using individual characteristics of the patient. The application of this method to larger cohorts may allow to identify different classes of progression, a crucial information at the time of the new commercially available therapies.
Systemic mastocytosis (SM) is a rare form of mastocytosis that can affect various organ systems. Bone involvement is the most common and prominent imaging feature in patients with SM regardless of ...the subtype. Furthermore, bone involvement is a prognostic factor as it may entail an aggressive course of the disease. Diagnosis is established by bone marrow biopsy complemented by imaging modalities such as radiography, CT, and magnetic resonance (MR) imaging. The radiographic and CT appearances are that of sclerotic, lytic, or mixed patterns with focal or diffuse distribution, involving primarily the axial skeleton and the ends of the long bones. Bone marrow infiltration is best recognized on MR imaging. Osteoporosis is common in SM; thus, a bone mineral density measurement at lumbar spine and proximal femur by dual-energy X-ray absorptiometry should be obtained. Imaging plays a huge part in the diagnostic process; when skeletal imaging findings are carefully interpreted and correlated with clinical features, they can lead to the suspicion of SM. The primary aims of this review article were to focus on the role of imaging in detection and characterization of skeletal patterns of SM and to discuss relevant clinical features that could facilitate prompt and correct diagnosis.
Bone and soft tissue infection involving the foot is a serious complication of diabetes mellitus and represents a major public health and socioeconomic burden to National Health Services worldwide. ...Research in the past decade has improved diagnosis and treatment of these frequent and potentially devastating complications of diabetic foot which often remain difficult to be diagnosed and treated despite the availability of various clinical, serological, and imaging modalities. Furthermore, neuropathic osteoarthropathy can share many clinical and imaging features of osteomyelitis, and infection is often superimposed in patients with neuropathic disease. Thus, distinguishing between the two abnormalities is further complicated. Although the reference standard for diagnosis remains microbiologic analysis of bone specimens, in most clinical practice, soft tissue and bone infection involving the diabetic foot is diagnosed solely on the basis of a combination of clinical evaluation, serum inflammatory markers, and imaging modalities. Correlation between imaging findings and clinical features is very important as well as a common knowledge base for treatment team members rather than a compartmentalized view. Thus, the primary purpose of this review article was to provide radiologist and clinician with important clinical knowledge and relevant radiological semiotics, respectively, in order to facilitate a prompt diagnosis and personalised treatment of diabetic foot infections.
Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression ...remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients.
Treatment effect on Cobb's angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance.
There were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016).
This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.
•The aim was to evaluate scoliosis onset and progression in untreated type II SMA patients.•The mean annual rate of increase of scoliosis angle was 5.63 (95%CI: 4.74–6.52).•The progression of ...scoliois angles was related to different variables.•Angles progressively increased with decreasing HFMSE scores or increasing age.•Our results confirm the progression of scoliosis in type II SMA.
The aim of this study is to retrospectively assess onset and progression of scoliosis in type II SMA patients not treated with the approved disease modifying treatments. Scoliosis was evaluated by measuring the scoliosis angle on X-ray obtained in the anteroposterior view in sitting position (Cobb's angle method).
Eighty-four patients had at least one assessment of scoliosis angle (287 assessments). There was a positive correlation between age and scoliosis angles (p<0.001) with a progressive increase of scoliosis with age. When subdividing the population by HFMSE score (<10; 11–22;> 22), there was a progressive increase in scoliosis angles with decreasing HFMSE scores. The difference between HFMSE categories was significant (p<0.001). Fifty-four patients had at least two assessments at 6-month distance and were retained for the longitudinal analysis. Using a mixed model, age, functional status and scoliosis angle at baseline were predictive on scoliosis progression. The mean annual rate of increase of scoliosis angle was 5.63 (95%CI: 4.74–6.52).
Our results confirm the progression of scoliosis in untreated type II SMA providing details of the progression in relation to different variables. With different therapeutical options being available in many countries, our findings will provide reference data for establishing possible differences in the trajectories of progression with treated type II individuals.
Background and ObjectiveDiagnosing diabetes-related foot osteomyelitis is sometimes a challenge for clinicians since it may occur without local or systemic signs of infection. Thus, the primary ...purpose of this article was to evaluate the role of progressive radiographic changes in diagnosing diabetic foot osteomyelitis. Materials and MethodsA retrospective review of databases of our Institution was performed to identify all long-standing diabetic foot patients who underwent two radiographic examinations spaced no more than five weeks apart and a subsequent magnetic resonance (MR) examination from November 2015 to November 2020. A total of 46 patients (32 men, 14 women; mean age, 57.3 years) were identified. Resultsserial radiographs showed 89% sensitivity, 38% specificity, 80% diagnostic accuracy, 87% positive predictive value (PPV), 43% negative predictive value (NPV) to diagnose osteomyelitis (P value < 0,05). Bone destruction was the most reliable radiographic sign with 89% sensitivity, 88% specificity, 89% diagnostic accuracy, 97% PPV, 64% NPV (P value < 0,05). ConclusionProgressive bony changes detected by serial radiographs are a useful tool to diagnose diabetic foot osteomyelitis.
Purpose: To evaluate the role of progressive radiographic changes to diagnose diabetic foot osteomyelitis.
Materials and Methods: A retrospective review of databases of our Institution was performed ...to identify all long-standing diabetic foot patients who underwent two radiographic examinations spaced no more than five weeks apart and a subsequent magnetic resonance (MR) examination from November 2015 to November 2020. A total of 46 patients (32 men, 14 women; mean age, 57.3 years) were identified.
Results: serial radiographs showed 89% sensitivity, 38% specificity, 80% diagnostic accuracy, 87% positive predictive value (PPV), 43% negative predictive value (NPV) to diagnose osteomyelitis (P value < 0,05). Bone destruction was the most reliable radiographic sign with 89% sensitivity, 88% specificity, 89% diagnostic accuracy, 97% PPV, 64% NPV (P value < 0,05).
Conclusion: Progressive bony changes detected by serial radiographs are a useful tool to diagnose diabetic foot osteomyelitis.
Purpose: To evaluate the role of progressive radiographic changes to diagnose diabetic foot osteomyelitis. Materials and Methods: A retrospective review of databases of our Institution was performed ...to identify all long-standing diabetic foot patients who underwent two radiographic examinations spaced no more than five weeks apart and a subsequent magnetic resonance (MR) examination from November 2015 to November 2020. A total of 46 patients (32 men, 14 women; mean age, 57.3 years) were identified. Results: serial radiographs showed 89% sensitivity, 38% specificity, 80% diagnostic accuracy, 87% positive predictive value (PPV), 43% negative predictive value (NPV) to diagnose osteomyelitis (P value < 0,05). Bone destruction was the most reliable radiographic sign with 89% sensitivity, 88% specificity, 89% diagnostic accuracy, 97% PPV, 64% NPV (P value < 0,05). Conclusion: Progressive bony changes detected by serial radiographs are a useful tool to diagnose diabetic foot osteomyelitis.
