Osteoporosis and decreased bone density is a frequent complication of anorexia nervosa (AN). As of yet, there have been no studies of accomplished treatment of AN-related osteoporosis with romosuzumab, a monoclonal antibody to sclerostin. We report the first case of a premenopausal, 29-year old patient in Switzerland with decreased bone density and osteoporotic fractures due to anorexia nervosa, who completed the treatment with romosuzumab. There was a significant increase in bone mineral density (BMD) after 12 months of therapy. No serious side effects were reported. To date, only bisphosphonates, denosumab and teriparatide have been evaluated in treatment of AN-related osteoporosis in adolescents and premenopausal individuals respectively. Our report demonstrates that romosuzumab might be an alternative treatment option in patients with anorexia nervosa who are at high risk for osteoporotic fractures. To assess the efficacy and safety of romosuzumab in individuals with AN further studies are needed.
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome defined by severe hypophosphatemia, bone loss, fractures, and muscle weakness. Identifying of the tumor site is often difficult. The primary treatment for Tumor-induced osteomalacia (TIO) is currently surgical resection. Removing the primary tumor is the most definitive treatment for this disease.
Here we describe the case of a 32-year-old man who exhibited sever muscle weakness and pain that had continued for three years. The patient has three sisters and one brother, all of whom are completely healthy and free of bone and muscle problems.
Laboratory data indicate low serum phosphorus, normal serum and urine calcium level, besides raised alkaline phosphatase level. Due to elevated phosphorus levels in the urine and the lack of an alternative source for phosphorus excretion, along with the absence of short stature, bone deformities, and a negative family history that might suggest the potential for Tumor-induced osteomalacia (TIO), an octreotide scan was performed to the localized the tumor site. The scan, corroborated by CT and MRI scans, displayed absorption in the right maxillary sinus. Surgical excision of the lesion confirmed it to be a central giant cell granuloma.
Following surgery and without receiving any other treatment, the patient's phosphorus levels and clinical condition improved compared to before the surgical treatment. Subsequently, the symptoms of muscle weakness and skeletal pain significantly diminished, and the patient regained the ability to move.
Tumor enucleation was conducted, and the pathological examination of the maxillary sinus lesion unveiled a central Giant cell granuloma. The patient had clinical and laboratory improvement after surgery. This finding confirmed our diagnosis of a paraneoplastic hypophosphatemia associated with a giant cell granuloma.
Femur fractures are a significant worldwide public health concern that affects patients as well as their families because of their high frequency, morbidity, and mortality. When employing computer-aided diagnostic (CAD) technologies, promising results have been shown in the efficiency and accuracy of fracture classification, particularly with the growing use of Deep Learning (DL) approaches. Nevertheless, the complexity is further increased by the need to collect enough input data to train these algorithms and the challenge of interpreting the findings. By improving on the results of the most recent deep learning-based Arbeitsgemeinschaft für Osteosynthesefragen and Orthopaedic Trauma Association (AO/OTA) system classification of femur fractures, this study intends to support physicians in making correct and timely decisions regarding patient care. A state-of-the-art architecture, YOLOv8, was used and refined while paying close attention to the interpretability of the model. Furthermore, data augmentation techniques were involved during preprocessing, increasing the dataset samples through image processing alterations. The fine-tuned YOLOv8 model achieved remarkable results, with 0.9 accuracy, 0.85 precision, 0.85 recall, and 0.85 F1-score, computed by averaging the values among all the individual classes for each metric. This study shows the proposed architecture's effectiveness in enhancing the AO/OTA system's classification of femur fractures, assisting physicians in making prompt and accurate diagnoses.
Osteoprotegerin (OPG) plays an important role in the inhibition of osteoclast formation and bone resorption. Studies have reported lower OPG levels among women with a pathogenic variant (mutation) in the BRCA1 gene, and thus, may be at greater risk for skeletal bone loss. Thus, we investigated the association between circulating OPG and two validated markers of bone health: 1) bone fracture risk score (FRAX) and 2) bone mineral density (BMD), among BRCA mutation carriers.
Women with a blood sample and clinical data were included in this analysis. An enzyme-linked immunosorbent assay (ELISA) was used to quantify serum OPG (pg/mL) and the 10-year risk of major osteoporotic fracture (FRAXmajor) and hip fracture (FRAXhip) (%) was estimated using a web-based algorithm. For a subset of women, lumbar spine BMD was previously assessed by dual x-ray absorptiometry (DXA)(T-score). A Mann–Whitney U test was used to evaluate the association between OPG and FRAX score, while linear regression was used to assess the association of OPG and BMD.
Among 701 women with a BRCA1 mutation, there was a significant (and unexpected) positive association between OPG levels and FRAX score (FRAXmajor: 2.12 (low OPG) vs. 2.53 (high OPG) P < 0.0001; FRAXhip: 0.27 (low OPG) vs. 0.44 (high OPG) P < 0.0001). In a subset with BMD measurement (n = 50), low serum OPG was associated with a significantly lower BMD T-score (−1.069 vs. -0.318; P = 0.04).
Our findings suggest that women with inherently lower OPG may be at risk of lower BMD, the gold standard marker of bone disease. Due to the young age of our cohort, on-going studies are warranted to re-evaluate the association between OPG and FRAX in BRCA mutation carriers.
Hip fractures present a significant healthcare challenge, especially within aging populations, where they are often caused by falls. These fractures lead to substantial morbidity and mortality, emphasizing the need for timely surgical intervention. Despite advancements in medical care, hip fractures impose a significant burden on individuals and healthcare systems. This paper focuses on the prediction of hip fracture risk in older and middle-aged adults, where falls and compromised bone quality are predominant factors.
The study cohort included 547 patients, with 94 experiencing hip fracture. To assess the risk of hip fracture, clinical variables and clinical variables combined with hip DXA imaging features were evaluated as predictors, followed by a novel staged approach. Hip DXA imaging features included those extracted by convolutional neural networks (CNNs), shape measurements, and texture features. Two ensemble machine learning models were evaluated: Ensemble 1 (clinical variables only) and Ensemble 2 (clinical variables and imaging features) using the logistic regression as the base classifier and bootstrapping for ensemble learning. The staged approach was developed using uncertainty quantification from Ensemble 1 which was used to decide if hip DXA imaging features were necessary to improve prediction for each subject. Ensemble 2 exhibited the highest performance, achieving an Area Under the Curve (AUC) of 0.95, an accuracy of 0.92, a sensitivity of 0.81, and a specificity of 0.94. The staged model also performed well, with an AUC of 0.85, an accuracy of 0.86, a sensitivity of 0.56, and a specificity of 0.92, outperforming Ensemble 1, which had an AUC of 0.55, an accuracy of 0.73, a sensitivity of 0.20, and a specificity of 0.83. Furthermore, the staged model suggested that 54.49 % of patients did not require DXA scanning, effectively balancing accuracy and specificity, while offering a robust solution when DXA data acquisition is not feasible. Statistical tests confirmed significant differences between the models, highlighting the advantages of advanced modeling strategies.
Our staged approach offers a cost-effective holistic view of patient health. It can identify individuals at risk of hip fracture with a high accuracy while reducing unnecessary DXA scans. This approach has great promise to guide the need for interventions to prevent hip fracture while reducing diagnostic cost and exposure to radiation.
A commonly used method for determining vitamin D sufficiency is the suppression of excess PTH secretion. Conventionally, the main circulating vitamin D metabolite 25(OH)D is used for this assessment, however, the cut-off data for this parameter vary widely in the literature. The role of other metabolites as markers of vitamin D status is actively debated. The aim of our study was to assess the relationship between PTH, age and parameters characterizing vitamin D status, both “classical” – 25(OH)D3, and “non-classical” – 24,25(OH)2D3 and 25(OH)D3/24,25(OH)2D3 (vitamin D metabolite ratio, VMR). This prospective non-controlled cohort study included 162 apparently healthy Caucasian adult volunteers. When PTH was binarized according to the median value, at VMR < 14.9, 25(OH)D3 > 9.7 ng/mL and 24,25(OH)2D3 > 0.64 ng/mL there was a pronounced relationship between PTH and age (p = 0.001, p = 0.023 and p = 0.0134 respectively), with the prevalence of higher PTH levels in older individuals and vice versa. Moreover, at an age of <40.3 years, there was a pronounced relationship between PTH and VMR (p < 0.001), and similarly at an age of <54.5 years, there was a pronounced relationship between PTH and 25(OH)D3 (p = 0.002) as well as between PTH and 24,25(OH)2D3 (p = 0.0038): in younger people, higher PTH values prevailed only in the range of vitamin D insufficiency, while in the older age group this relationship was not demonstrated and PTH values were in general above the median. VMR controlled the correlation between PTH and age more strongly than metabolites 25(OH)D3 and 24,25(OH)2D3 (p = 0.0012 vs. p > 0.05 and p = 0.0385 respectively). The optimal threshold was found equal to 11.7 for VMR such that the relationship between PTH and age in the subset of participants with VMR < 11.7 was characterized by a correlation coefficient of ρ = 0.68 (p < 0.001), while the cohort with VMR > 11.7 was characterized by a very weak correlation coefficient of ρ = 0.12 (p = 0.218), which is non-significant. In summary, our findings suggest that the relationship between PTH and vitamin D is age-dependent, with a greater susceptibility to elevated PTH among older individuals even with preserved renal function, likely due to the resistance to vitamin D function. We propose VMR can be considered as a potential marker of vitamin D status. These findings require confirmation in larger population-based studies.

