Diagnosis and treatment of Paget's disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS).

INTRODUCTION: Paget's disease of bone is a focal skeletal disorder causing bone deformities and impairing bone quality. Despite the prevalence of asymptomatic cases is increasing, the progression of the disease can lead to invalidating complications that compromise the quality of life. Doubts on clinical and therapeutic management aspects exist, although beneficial effects of antiresorptive drugs, particularly bisphosphonates are known. However, limited information is available from randomized controlled trials on the prevention of disease complications so that somewhat contrasting positions about treatment indications between expert panels from the main scientific societies of metabolic bone diseases exist. This task force, composed by expert representatives appointed by the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases and members of the Italian Association of Paget's disease of bone, felt the necessity for more specific and up to date indications for an early diagnosis and clinical management. METHODS: Through selected key questions, we propose evidence-based recommendations for the diagnosis and treatment of the disease. In the lack of good evidence to support clear recommendations, available information from the literature together with expert opinion of the panel was used to provide suggestions for the clinical practice. RESULTS AND CONCLUSION: Description of the evidence quality and support of the strength of the statements was provided on each of the selected key questions. The diagnosis of PDB should be mainly based on symptoms and the typical biochemical and radiological features. While treatment is mandatory to all the symptomatic cases at diagnosis, less evidence is available on treatment indications in asymptomatic as well as in previously treated patients in the presence of biochemical recurrence. However, given the safety and long-term efficacy of potent intravenous bisphosphonates such as zoledronate, a suggestion to treat most if not all cases at the time of diagnosis was released.

What is the current clinico-radiological diagnostic accuracy for intracranial tumours?

OBJECTIVE: To determine the diagnostic accuracy of routine clinico-radiological workup for a population-based selection of intracranial tumours. METHODS: In this prospective cohort study, we included consecutive adult patients who underwent a primary surgical intervention for a suspected intracranial tumour between 2015 and 2019 at a single-neurosurgical centre. The treating team estimated the expected diagnosis prior to surgery using predefined groups. The expected diagnosis was compared to final histopathology and the accuracy of preoperative clinico-radiological diagnosis (sensitivity, specificity, positive and negative predictive values) was calculated. RESULTS: 392 patients were included in the data analysis, of whom 319 underwent a primary surgical resection and 73 were operated with a diagnostic biopsy only. The diagnostic accuracy varied between different tumour types. The overall sensitivity, specificity and diagnostic mismatch rate of clinico-radiological diagnosis was 85.8%, 97.7% and 4.0%, respectively. For gliomas (including differentiation between low-grade and high-grade gliomas), the same diagnostic accuracy measures were found to be 82.2%, 97.2% and 5.6%, respectively. The most common diagnostic mismatch was between low-grade gliomas, high-grade gliomas and metastases. Accuracy of 90.2% was achieved for differentiation between diffuse low-grade gliomas and high-grade gliomas. CONCLUSIONS: The current accuracy of a preoperative clinico-radiological diagnosis of brain tumours is high. Future non-invasive diagnostic methods need to outperform our results in order to add much value in a routine clinical setting in unselected patients.

[Fracture classification-part 1 : Modern low-dose radiation imaging in pediatric traumatology]. / Frakturklassifikation ­ Teil 1 : Moderne strahlensparende Diagnostik in der Kindertraumatologie.

BACKGROUND: Fractures in children are significantly more common than bone fractures in adults. Overall, they have a good prognosis regarding spontaneous correction and a restitutio ad integrum. The aim of this study is to provide an overview of established modern (low-dose radiation) imaging techniques in pediatric fractures. MATERIALS AND METHODS: Knowledge of typical fractures for different ages, of the individual bone nuclei of the growth plate, and epiphyseal injuries are important for the correct radiological diagnosis. This review also focuses on fractures of the elbow because misinterpretation may result in delays of consolidation with subsequent growth disturbances, joint dysfunctions, and malpositions. RESULTS AND CONCLUSIONS: In addition to conventional x­rays, fracture sonography is becoming increasingly important for the detection of fractures in children. In the upper extremity, a sensitivity of 96% and specificity of 97% can be achieved for some fracture entities, e.g., at the distal forearm. Computed tomography is used restrictively but plays an important role in a few special indications for polytraumatized children and preoperative assessment, e.g., in the case of transitional fractures.

A Radiological Study for Assessing Syndesmosis Malreduction: Its Validity and Limitation.

This study assessed the diagnostic utility of different X-ray radiological methods on syndesmosis malreduction. Thirteen fresh ankle specimens were used to make a syndesmotic separation model. The specimen was fixed in the anatomic position and in malreduction positions, including internal rotation 10° (IR10°), IR20°, external rotation 10° (ER10°), and ER20°. The tibiofibular clear space (TCS), tibiofibular overlap (TFO) on the anteroposterior view, and anteroposterior ratio (A/P ratio) on the lateral view were measured. When the syndesmosis was fixed in IR20°, the sensitivity of the TCS, TFO, and A/P ratio for malreduction diagnosis was 92.3% (12/13), 69.2% (9/13), and 100%, respectively. When the syndesmosis was fixed in IR10° malreduction, the sensitivity of the TCS, TFO, and A/P ratio for malreduction diagnosis was 38.4% (5/13), 38.4% (5/13), and 84.6% (11/13); in ER10°, 30.7% (4/13), 76.9% (10/13), and 69.2% (9/13); and in ER20°, 92.3% (12/13), 100% and 92.3% (12/13). In the anatomic reduction, the false-positive rate of the TCF, TFO, and A/P ratio was 7.6% (1/13), 7.6% (1/13), and 0%, respectively. The TFO and A/P ratio exhibited differences between all malreduction groups and the anatomic group. However, the TCS measurements had no statistical difference between the anatomic position and IR10° malreduction (p = .109). On the AP view, the TCS and TFO measurements are not sensitive enough to detect the syndesmosis malreduction. The A/P ratio on the lateral view exhibits better diagnostic utility for syndesmosis malreduction.

Machine learning applications for the differentiation of primary central nervous system lymphoma from glioblastoma on imaging: a systematic review and meta-analysis.

OBJECTIVEGlioblastoma (GBM) and primary central nervous system lymphoma (PCNSL) are common intracranial pathologies encountered by neurosurgeons. They often may have similar radiological findings, making diagnosis difficult without surgical biopsy; however, management is quite different between these two entities. Recently, predictive analytics, including machine learning (ML), have garnered attention for their potential to aid in the diagnostic assessment of a variety of pathologies. Several ML algorithms have recently been designed to differentiate GBM from PCNSL radiologically with a high sensitivity and specificity. The objective of this systematic review and meta-analysis was to evaluate the implementation of ML algorithms in differentiating GBM and PCNSL.METHODSThe authors performed a systematic review of the literature using PubMed in accordance with PRISMA guidelines to select and evaluate studies that included themes of ML and brain tumors. These studies were further narrowed down to focus on works published between January 2008 and May 2018 addressing the use of ML in training models to distinguish between GBM and PCNSL on radiological imaging. Outcomes assessed were test characteristics such as accuracy, sensitivity, specificity, and area under the receiver operating characteristic curve (AUC).RESULTSEight studies were identified addressing use of ML in training classifiers to distinguish between GBM and PCNSL on radiological imaging. ML performed well with the lowest reported AUC being 0.878. In studies in which ML was directly compared with radiologists, ML performed better than or as well as the radiologists. However, when ML was applied to an external data set, it performed more poorly.CONCLUSIONSFew studies have applied ML to solve the problem of differentiating GBM from PCNSL using imaging alone. Of the currently published studies, ML algorithms have demonstrated promising results and certainly have the potential to aid radiologists with difficult cases, which could expedite the neurosurgical decision-making process. It is likely that ML algorithms will help to optimize neurosurgical patient outcomes as well as the cost-effectiveness of neurosurgical care if the problem of overfitting can be overcome.

[Isolated iliac artery aneurysms : Interventional treatment]. / Isolierte Aneurysmen der Iliakalarterien : Interventionelle Therapie.

CLINICAL ISSUE: Isolated iliac artery aneurysms occur considerably less often than abdominal aortic aneurysms. Mainly older men are affected by this disease. Most of these aneurysms are asymptomatic and are incidentally detected during cross-sectional imaging. Iliac aneurysms with a diameter larger than 3 cm are at risk for rupture, which is associated with high morbidity and mortality. STANDARD TREATMENT: To prevent their rupture as well as for symptomatic or ruptured aneurysms, endovascular treatment has recently been established as the primary approach due to the decreased morbidity and mortality compared to open repair. Endovascular aneurysm exclusion is performed with stent grafts, and depending on the anatomy, by adjunctive internal iliac artery embolization. TREATMENT INNOVATIONS: Up to a quarter of treated patients will require additional endovascular revisions during the long term. Reliable imaging follow-up likely increases the safety of elective or emergent endovascular iliac artery aneurysm repair.

[Intra-axial brain tumors in adults : On the basis of the 2016 WHO classification]. / Intraaxiale Hirntumoren des Erwachsenenalters : Auf der Basis der WHO-Klassifizierung 2016.

CLINICAL/METHODICAL ISSUE: The influence of the World Health Organization (WHO) classification from 2016 on the radiological diagnosis for tumors of the central nervous system (CNS) in adults. STANDARD RADIOLOGICAL METHODS: Computed tomography (CT), magnetic resonance imaging (MRI) and MR spectroscopy. PRACTICAL RECOMMENDATIONS: In order to come as close as possible to the correct diagnosis of CNS tumors, MRI is the long-standing accepted method of choice that can in some cases be supported by the use of CT to demonstrate calcification or bone destruction. In individual cases MRI spectroscopy can be helpful for the differentiation between neoplasms and inflammatory lesions or surveillance of tumor therapy, just as perfusion, which is not discussed in this article.

Congenital malformation of the oval window: experience of radiologic diagnosis and surgical technique.

The aim of this study was to introduce and discuss the method of preoperative radiological diagnosis to the congenital absence or atresia of the oval window (OW), and the method of surgical treatment. From July 2010 through August 2014, patients with normal external canal and tympanic membrane but conductive hearing loss underwent high resolution CT scan (HRCT). The multi-planar reformation (MPR), a post-processing protocol, was used. The patients with diagnosis of OW atresia and malformed stapes preoperatively underwent surgical treatment. The vestibular drilled-out and promontory drilled-out technique was used to reconstruct the ossicular chain. In the preoperative radiological diagnosis, six patients (ears) were noted to have congenital absence or atresia of the oval window with malformed facial nerve (class 4) and two patients (ears) were found to have footplate fixation (class 2). In the surgical treatment of eight ears, the malformed structure was identified and the ossicular chain reconstruction was made in six ears. The coronal HRCT CT imaging and the MPR post-processing technique can provide us practical and definite information for surgical treatment, especially in the discrimination of OW atresia and the fixed stapedal footplate. The promontory drill-out technique, fenestration in the bottom of the basal turn, provides us a new method in the hearing reconstruction when the area of OW was fully covered by malformed facial nerve. This technique was first reported in the literature.

The radiological diagnosis of pregnancy associated venous thromboembolism: a review of current research.

One of the main causes of unfavorable pregnancy outcomes in expectant mothers is pregnancy-associated venous thromboembolism. Although pregnancy-related venous thromboembolism does not always manifest obvious clinical symptoms and lacks a comprehensive standard risk assessment and prediction system as well as simple and effective laboratory testing techniques, timely and accurate diagnosis can still help reduce the probability of adverse pregnancy outcomes. To aid in the early detection, diagnosis, and treatment of pregnancy- associated venous thromboembolism, we attempt to provide an overview of the radiological diagnostic techniques for various forms of the condition.

Incidentally findings of bilateral giant adrenal myelolipoma: Case report.

INTRODUCTION AND IMPORTANCE: Adrenal myelolipoma (AML) is a rare, benign neoplasm of the adrenal gland often found incidentally during medical examinations for unrelated conditions. This case study presents a 39-year-old male patient with a particularly large AML, weighing 11 kg upon surgical removal, potentially making it the largest documented tumor in medical literature. CASE PRESENTATION: A 39-year-old male presenting with abdominal distension and clinical manifestations of Cushing syndrome was discovered to have sizable adrenal masses. Initial pre-operative fine-needle aspiration biopsy indicated lipogenic tumors, however, subsequent post-operative pathological analysis revealed the presence of adrenal myelolipoma. Following surgery, the patient developed an adrenal crisis but responded well to glucocorticoid therapy and made a successful recovery. CLINICAL DISCUSSION: In contrast to previously documented instances, the present case potentially the most extensive case of its kind reported thus far. AML is an uncommon benign tumor of the adrenal gland, with diagnostic and therapeutic challenges arising from its resemblance to other adrenal neoplasms. Owing to the inherent limitations of fine needle biopsy and the propensity for misdiagnosis, the adrenal origin of the tumor was not initially considered, leading to postoperative adrenal crisis in the patient. CONCLUSION: AML, a rare tumor, poses challenges in accurate diagnosis. Comprehensive imaging studies are essential to differentiate it from other neoplasms. Rigorous preoperative and postoperative pathological evaluations are crucial to avoid diagnostic errors. Additionally, thorough endocrinological assessments before and after surgery are imperative for early detection and management of any associated endocrine abnormalities.

Chronic non-bacterial osteomyelitis (CNO) in childhood and adolescence - a disease with many faces. / Die Chronische Nicht Bakterielle Osteomyelitis (CNO) im Kindes- und Jugendalter ­ eine Erkrankung mit vielen Gesichtern.

BACKGROUND: Chronic non-bacterial osteomyelitis (CNO) is a chronic inflammatory skeletal disease that affects particularly children and adolescents and is often diagnosed with a delay. With whole-body MRI, early diagnosis of this disease is possible in many cases. Since children and adolescents frequently present with non-specific complaints for outpatient radiological diagnosis, every radiologist should have basic knowledge of this complex clinical picture. MATERIALS: In this review the basics and current findings regarding the disease are discussed. Unusual courses are also presented. RESULTS AND CONCLUSION: With knowledge of the radiographic and MR tomographic characteristics of the mostly multifocal bone lesions, the diagnosis of CNO can be reliably made in many cases. In particular, the early use of whole-body MRI plays an important role. Thus, therapeutic delays and resulting complications and the number of unnecessary biopsies for diagnosis can be reduced.

Acute Appendicitis in Children: Evaluation of the Diagnostic Efficacy of Ultrasonography and Computed Tomography.

OBJECTIVE: Acute appendicitis (AA), the most common cause of acute abdomen in childhood, can result in significant morbidity and mortality if not diagnosed and treated in a timely manner. Diagnosis of AA is more difficult in children due to the limited communication skills, in comparison to adults. The aim of this study is to evaluate the diagnostic accuracy of abdominal ultrasonography (US) and computed tomography (CT) in the diagnosis of AA in children. MATERIALS AND METHODS: Pediatric patients who were operated on with the diagnosis of AA between January 2016 and December 2021 were retrospectively reviewed. Preoperative abdominal US and CT findings of the patients and postoperative pathology results were recorded. RESULTS: A total of 263 patients with a mean age of 11.3 years were included in the study. There were 164 (62.3%) males and 99 (37.7%) females. Histopathology revealed AA in 215 (81.7%) patients. Preoperatively, US and CT were performed in 139 (52.8%) and 137 (54.5%), respectively. Both imaging methods were applied to 13 (5.1%) patients. US had a sensitivity and specificity rate of 77.2% and 52.6%, respectively. Positive predictive value (PPV) was found to be 81.2%, whereas negative predictive value (NPV) was 46.5% for US. The diagnostic accuracy rate of US was found as 70.5%. CT had a sensitivity and specificity rate of 88.1% and 57.1%, respectively. PPV was found to be 88.8%, whereas NPV was 55.1% for CT. The diagnostic accuracy rate of CT was found as 81.8%. CONCLUSION: In case of suspicion of AA, US may be the first choice because it is inexpensive and easily accessible. However, considering patient incompatibility and subjective factors in children, US may sometimes be insufficient. We think that CT should be performed as an advanced examination method in cases where US is not compatible with the patient's condition, not clinic.

[Radiological diagnosis of apophyseal injuries of the pelvic region]. / Radiologische Diagnostik von Apophysenverletzungen der Beckenregion.

Avulsion injuries of the pelvis are common sports-related findings in skeletally immature adolescent patients. They usually present as an avulsion of the unfused apophysis, resulting from forced muscular contraction during typical athletic movements or from chronic traction injuries. Acute apophyseal avulsion injuries are usually easily detected with radiography. Occasionally, advanced imaging such as ultrasound or magnetic resonance imaging is required in order to detect or fully assess the extent of injury. Chronic injuries can mimic aggressive entities, such as neoplasms and may thus cause difficulties in differential diagnosis. Profound knowledge of typical locations of apophyseal tendon attachment sites at the osseous pelvis and correct interpretation of imaging findings can facilitate accurate diagnosis. This article discusses the clinical and radiological findings of pelvic apophyseal avulsion injuries in pediatric patients and highlights potential complications and differential diagnoses.

CT and MR imaging of the greater omentum: Pictorial essay.

The greater omentum is a unique anatomical structure that serves a critical function in the containment of inflammatory and infectious processes within the abdominal cavity. It is also a common site of involvement by metastases, as well as the primary location for various pathologic lesions of clinical significance. Its fibroadipose composition, large size, and position in the most anterior aspect of abdomen allow accurate visualization of the greater omentum on CT and MR images. Careful evaluation of the greater omentum can provide important clues to the diagnosis of the underlying abdominal disorder. The aim of this article is to present the normal appearance of the greater omentum, and the wide spectrum of its pathological features as demonstrated on CT and MRI of the abdomen.

Accuracy between clinical and radiological diagnoses compared to surgical orbital biopsies.

AIM: To assess the concordance between diagnosing orbital lesions by clinical examination, orbital imaging, and histological evaluation, in order to help guide future research and clinical practice. METHODS: A retrospective analysis was undertaken at a large regional tertiary referral centre of all surgical orbital biopsies performed over a 5-year period, from 1st January 2015 until 31st December 2019. Accuracy and concordance between clinical, radiological and histological diagnoses are reported as percentage sensitivity and positive predictive value. RESULTS: A total of 128 operations involving 111 patients were identified. Overall, sensitivities of 47.7% for clinical and 37.3% for radiological diagnoses were found when compared to the histological gold standard. Vascular lesions that have characteristic clinical and radiological features had the highest sensitivity at 71.4% and 57.1%, respectively. Inflammatory conditions showed the lowest sensitivity in both clinical (30.3%) and radiological (18.2%) diagnoses. The PPV for inflammatory conditions were 47.6% for clinical and 30.0% for radiological diagnoses. CONCLUSION: Accurate diagnoses are difficult to reach by relying on clinical examination and imaging alone. Surgical orbital biopsy with histological diagnosis should remain the gold standard approach for definitively identifying orbital lesions. Although larger scale prospective studies would help further refine concordance and guide future research avenues.

Neonatal Transphyseal Separation of the Distal Humeral Epiphysis: Early Diagnosis and Immediate Treatment with Radiographic Evaluation.

Introduction: Epiphyseal separation of the distal humeral epiphysis is an extremely rare injury. Both clinical and radiological examinations are unclear and delayed diagnosis is reported. The absence of the ossification center of the capitellum complicates the radiological diagnosis and often it is reported as elbow dislocation. Case Report: We are reporting a case of a distal humeral epiphysis separation, diagnosed in the maternity hospital. The neonate had severe discomfort and reduced mobility of the affected arm. We confirmed the diagnosis with the conventional radiological examination, with the medial displacement of the olecranon and the articulation of the radius with the medial humeral condyle. We performed immediate reduction of the lesion and evaluated the restoration of the normal elbow anatomy with the correct articulation of the radius with the lateral humeral condyle. The neonate was followed for a year and there is normal development of the affected elbow. Conclusion: Knowledge of this rare neonatal fracture is essential to diagnose properly the lesion. Plain radiographic evaluation enabled us to diagnose the epiphysiolesthesis. We have treated our neonate with no invasive procedures and the final result was the normal development of the elbow joint.

CT and MR imaging of the properitoneal fat pad: a pictorial essay.

The properitoneal fat pad is a distinctive anatomical structure located in the midline of anterior abdominal wall between the transversalis fascia and parietal peritoneum. It has variable size and configuration depending on the gender and nutritional status of individuals, but CT and MR images of the upper abdomen can readily depict its shape and adipose composition. The purpose of this essay is to illustrate the CT and MRI features of normal properitoneal fat pad, and the spectrum of pathological processes that affect it among patients. This information can be relevant to the practicing radiologists and clinicians for the correct diagnosis and management of such conditions because most lesions of this fat pad produce nonspecific symptoms.

Diagnostic Reliability of Plain Radiography in Osteonecrosis of the Femoral Head: General Radiological Features Revised.

BACKGROUND AND OBJECTIVES: Osteonecrosis of the femoral head (ONFH) is an incapacitating disease that frequently results in the collapse of the femoral head and secondary osteoarthritis. The diagnosis and staging of this pathology, which usually rely on imaging studies, are challenging. Currently, conventional radiography is the basis of the initial diagnostic assessment. In recent decades, however, radiographs have been considered insensitive to early changes in ONFH and thus, a suboptimal diagnostic tool. Paradoxically, the imaging features of radiographs are often profuse, substantial, and characteristic. This study aimed to elucidate the real limitations of this radiologic tool by assessing the diagnostic reliability of the key radiologic features and staging. METHODS: This was a retrospective study in which radiographs from 28 idiopathic ONFH confirmed cases who underwent hip arthroplasty were analyzed by eight observers who were asked to identify the presence or absence of ONFH universally reported imaging features in AP hip radiographs. RESULTS: Concordance analysis revealed a poor agreement between observers for most of the assessed imaging features. Only the identification of femoral head flattening and osteoarthritis signs exhibited moderate agreement with statistical significance. In contrast, the detection of radiological osteoporosis and the loss of trabeculation showed the lowest reliability, with negative kappa coefficients. CONCLUSION: There is a lack of agreement between qualified observers, even for the identification of the most characteristic ONFH radiographic feature. The reliability of plain radiography for the detection of basic radiological elements is even weaker in the early stages of the disease.

Imaging of low-energy vertebral fractures.

Low-energy vertebral fractures pose a diagnostic challenge for the radiologist due to their often-inadvertent nature and often subtle imaging semiology. However, the diagnosis of this type of fractures can be decisive, not only because it allows targeted treatment to prevent complications, but also because of the possibility of diagnosing systemic pathologies such as osteoporosis or metastatic disease. Pharmacological treatment in the first case has been shown to prevent the development of other fractures and complications, while percutaneous treatments and various oncological therapies can be an alternative in the second case. Therefore, it is necessary to know the epidemiology and typical imaging findings of this type of fractures. The objective of this work is to review the imaging diagnosis of low-energy fractures, with special emphasis on the characteristics that should be outlined in the radiological report to guide a specific diagnosis that favours and optimizes the treatment of patients suffering of low energy fractures.

Usefulness of positron-emission tomography for predicting the World Health Organization grade of thymic epithelial tumors.

BACKGROUND: It is often difficult to distinguish between thymoma and thymic carcinoma by preoperative radiological tests. While there have been some reports that the maximum standardized uptake value (SUVmax ) in positron emission tomography-computed tomography (PET-CT) is useful to this end, no large-scale analysis has been performed. We therefore analyzed the usefulness of the SUVmax and tumor size (TS) for differentiating thymic epithelial tumors. METHODS: From 2011 to 2019, 129 patients with thymic epithelial tumor who underwent PET-CT before surgical treatment were enrolled. The relevance of the SUVmax to the World Health Organization (WHO) histological type was assessed. To reduce the impact of the TS, the ratio of the SUVmax to the TS was also investigated. RESULTS: A total of 99 thymoma cases and 30 thymic carcinoma cases were enrolled into the study. The SUVmax and SUVmax /TS of thymic carcinoma were significantly higher than those of thymoma (SUVmax : 7.7 ± 3.4 vs. 3.3 ± 1.3, p < 0.01; SUVmax /TS: 1.5 ± 0.7 vs. 0.6 ± 0.4, p < 0.01). Focusing on the patients with a moderate SUVmax of ≤5 (84 thymoma and 4 thymic carcinoma), the SUVmax /TS values of thymic carcinoma were still significantly higher than those of thymoma (1.6 ± 0.8 vs. 0.6 ± 0.4, p < 0.01). CONCLUSIONS: PET-CT might provide significant information for differentiating images of thymoma and thymic carcinoma. We experienced several cases of thymic carcinoma with a moderate SUVmax of ≤5, and SUVmax /TS was considered a useful parameter for differentiating such cases.