The Fracture Phenotypes in Women and Men of 50 Years and Older with a Recent Clinical Fracture.

PURPOSE OF REVIEW: We review the literature about patients 50 years and older with a recent clinical fracture for the presence of skeletal and extra-skeletal risks, their perspectives of imminent subsequent fracture, falls, mortality, and other risks, and on the role of the fracture liaison service (FLS) for timely secondary fracture prevention. RECENT FINDINGS: Patients with a recent clinical fracture present with heterogeneous patterns of bone-, fall-, and comorbidity-related risks. Short-term perspectives include bone loss, increased risk of fractures, falls, and mortality, and a decrease in physical performance and quality of life. Combined evaluation of bone, fall risk, and the presence of associated comorbidities contributes to treatment strategies. Since fractures are related to interactions of bone-, fall-, and comorbidity-related risks, there is no one-single-discipline-fits-all approach but a need for a multidisciplinary approach at the FLS to consider all phenotypes for evaluation and treatment in an individual patient.

Patient perceptions of success in obesity treatment: An IMI2 SOPHIA study.

Background: It is anticipated that by 2030, 20% of the world's population will live with obesity. Success in the management of obesity is predominately determined in terms of BMI or percentage weight loss, yet the limitations of these have been widely recognized. This study aimed to understand patient definitions of success in obesity treatment. Methods: A series of in-depth focus groups, carried out with n = 30 adults living with obesity, offered a qualitative insight into patient definitions of success. Results: A thematic analysis of data yielded four thematic findings: Success as freedom from stigma, bias and the mental burden of obesity; success as being able to participate fully in the world; success as measured by NSVs [non-scale victories]; and success is not a number on a scale. Conclusions: What this study highlights is (1) how current measures of success do not accurately encompass the priorities of people living with obesity, (2) the importance of addressing the psychological and emotional aspects of living with obesity in any definition of success , and (3) the importance of meaningful co-creation of goals and indicators of success between clinician and patient for the effective management of the disease of obesity.

The reliability of character recognition: An Australian & New Zealand expert-novice comparison study in the interpretation of chemically recovered serial numbers.

The chemical recovery of a defaced serial number is a common forensic science practice, however it is not understood how proficient experts perform in correctly identifying recovered serial numbers. Understanding the accuracy of experts and how they compare to novices in character recognition can help to establish a baseline for this expertise. In this study an expert-novice comparison assessment was completed involving 118 test plates, each stamped with six randomised alphanumeric characters. The plates were defaced and chemically recovered before being viewed by multiple participants over six time intervals. A total of 3169 character inspections were completed. An assessment of confidence and error rates were calculated for both expert (trained) and novice (untrained) participants. Errors were counted when a participant interpreted a different character to that of the ground truth and believed the result was accurate for reporting. The results showed a similar (2.3 % and 2.4 %) error rate for the cohorts, however a statistical difference in confidence levels was recorded, demonstrating the more conservative nature of experts. This study aims to assist in validating practitioner interpretations, through addressing some forensic science criticisms, such as establishing error rates to routine scientific practices.

Factors that determine patients considering medication for the disease of obesity: an IMI2 SOPHIA study.

OBJECTIVE: Obesity-related problems can now be managed with effective nutritional therapy, pharmacotherapy, and surgeries that achieve >10% weight loss. Assessing patient preferences, treatment choices, and factors affecting patients can improve treatment compliance and efficacy. Our aim was to identify factors affecting patient preference and subsequent choice of pharmacotherapy among those seeking treatment for obesity-related disorders. METHODS: A participatory action study using purposeful sampling recruited 33 patients with obesity complications. They were referred to specialist clinics in non-alcoholic fatty liver disease, diabetes mellitus, hypertension, and chronic kidney disease. Sixteen males and seventeen females aged 18-70 years, with BMI > 35 kg/m2 were recruited. Before the interview, participants watched a 60-minute video explaining nutritional therapy, pharmacotherapy, and surgery in equipoise. Data were collected in semi-structured interviews; Reflective thematic analysis was used. This sub study focuses only on patients who expressed specific attitudes (positive or negative) towards pharmacotherapy. RESULTS: Ten (30%) patients expressed a view on pharmacotherapy. Eight (24%) patients chose pharmacotherapy alone, whereas two (6%) patients chose pharmacotherapy combined with nutritional therapy. In this sub study focusing on pharmacotherapy, five themes were identified related to choosing whether or not to take medication: (1) attitudes towards pharmacotherapy, (2) attitudes toward size of obesity and its complications, (3) weighing the benefits and risks of treatment, (4) knowledge and reassurance of health professionals, and (5) costs associated with drug therapy. CONCLUSION: The primary concerns regarding pharmacotherapy for intentional weight loss were efficacy, side effects, lifelong dosing, pharmacokinetics, and cost. Providing access to information about all the pharmacotherapies and the benefits is likely to result in greater penetrance of treatment.

Impaired endochondral ossification in a skeletally immature dog: implications for femoral cleft formation and suspected incomplete femoral ossification.

Historically, knowledge regarding congenital skeletal malformations in canines is poor. The Nomina Embryologica Veterinaria does not currently list any dysmorphia related to distal femoral fusion, and there is a significant absence of comprehensive descriptions of congenital defects in the veterinary literature. This paper reports on the radiographic and computed tomography (CT) characteristics of a skeletal abnormality in a seven-month-old crossbreed dog that presented for chronic right pelvic limb lameness as a result of secondary developmental patella luxation. Successful resolution of the lameness was achieved through concurrent surgical correction of the patella luxation and distal femoral cleft.

Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.

Bone lytic lesions are a possible complication of pseudohypoparathyroidism type 1B, in undertreated adult patients. Whole body [18F] F-fluorocholine PET/CT is a useful imaging tool to assess brown tumor progression in this context. We describe the case of a 33-year-old woman, referred for the diagnostic evaluation of lytic bone lesions of the lower limbs, in the context of asymptomatic pseudohypoparathyroidism. She had been treated with alfacalcidol and calcium during her childhood. Treatment was discontinued at the age of 18 years old because of the lack of symptoms. A femur biopsy revealed a lesion rich in giant cells, without malignancy, consistent with a brown tumor. Laboratory tests showed a parathyroid level at 1387 pg/ml (14-50). Whole-body Fluorocholine PET/CT revealed hypermetabolism of bone lesions. The final diagnosis was brown tumors related to hyperparathyroidism complicating an untreated pseudohypoparathyroidism. Genetic testing confirmed PHP type 1B. Pseudohypoparathyroidism with radiographic evidence of hyperparathyroid bone disease, is a very rare condition due to parathyroid hormone resistance in target organs, i.e., kidney resistance, but with conserved bone cell sensitivity. It has been reported in only a few cases of pseudohypoparathyroidism type Ib. Long-term vitamin D treatment was required to correct bone hyperparathyroidism. With this rationale, the patient was treated with calcium, alfacalcidol, and cholecalciferol. One-year follow-up showed complete resolution of pain, improvement in serum calcium, and regression of bone lesions on [18F]F-fluorocholine PET/CT. This case illustrates the usefulness of [18F]F-fluorocholine PET/CT for the imaging of brown tumors in pseudohypoparathyroidism type 1B, and emphasizes the importance of calcium and vitamin D treatment in adult patients, to avoid the deleterious effects of high parathyroid hormone on skeletal integrity.

Arterial Spin-Labeling in the Assessment of Pediatric Nontraumatic Orbital Lesions.

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1, n = 15; benign lesions), heterogeneous hyperperfusion (pattern 2, n = 9; cellulitis, histiocytosis, malignant tumors), and homogeneous intense hyperperfusion (pattern 3, n = 3; infantile hemangiomas). Arterial spin-labeling can be a valuable tool to improve the diagnostic confidence of some orbital lesions, including infantile hemangioma. An algorithm is proposed.

Chimeras in Merlot grapevine revealed by phased assembly.

Chimerism is the phenomenon when several genotypes coexist in a single individual. Used to understand plant ontogenesis they also have been valorised through new cultivar breeding. Viticulture has been taking economic advantage out of chimeras when the variant induced an important modification of wine type such as berry skin colour. Crucial agronomic characters may also be impacted by chimeras that aren't identified yet. Periclinal chimera where the variant has entirely colonised a cell layer is the most stable and can be propagated through cuttings. In grapevine, leaves are derived from both meristem layers, L1 and L2. However, lateral roots are formed from the L2 cell layer only. Thus, comparing DNA sequences of roots and leaves allows chimera detection. In this study we used new generation Hifi long reads sequencing, recent bioinformatics tools and trio-binning with parental sequences to detect periclinal chimeras on 'Merlot' grapevine cultivar. Sequencing of cv. 'Magdeleine Noire des Charentes' and 'Cabernet Franc', the parents of cv. 'Merlot', allowed haplotype resolved assembly. Pseudomolecules were built with a total of 33 to 47 contigs and in few occasions a unique contig for one chromosome. This high resolution allowed haplotype comparison. Annotation was transferred from PN40024 VCost.v3 to all pseudomolecules. After strong selection of variants, 51 and 53 'Merlot' specific periclinal chimeras were found on the Merlot-haplotype-CF and Merlot-haplotype-MG respectively, 9 and 7 been located in a coding region. A subset of positions was analysed using Molecular Inversion Probes (MIPseq) and 69% were unambiguously validated, 25% are doubtful because of technological noise or weak depth and 6% invalidated. These results open new perspectives on chimera detection as an important resource to improve cultivars through clonal selection or breeding.

Severe atypical Lemierre syndrome caused by methicillin-sensitive Staphylococcus aureus: Two pediatric case reports.

BACKGROUND: Lemierre syndrome is typically associated with ear, nose, and throat (ENT) infections caused by Fusobacterium necrophorum. Since 2002, cases of atypical Lemierre-like syndrome secondary to Staphylococcus aureus have been reported. CASES: We report two pediatric cases of atypical Lemierre syndrome with a similar presentation: exophthalmia, absence of pharyngitis, metastatic lung infection, and intracranial venous sinus thrombosis. Both patients had a favorable outcome following treatment with antibiotics, anticoagulation, and corticosteroids. CONCLUSION: Regular therapeutic monitoring of antibiotic levels helped to optimize antimicrobial treatment in both cases.

Grafting of proteins onto polymeric surfaces: A synthesis and characterization challenge.

This review aims at answering the following question: how can a researcher be sure to succeed in grafting a protein onto a polymer surface? Even if protein immobilization on solid supports has been used industrially for a long time, hence enabling natural enzymes to serve as a powerful tool, emergence of new supports such as polymeric surfaces for the development of so-called intelligent materials requires new approaches. In this review, we introduce the challenges in grafting protein on synthetic polymers, mainly because compared to hard surfaces, polymers may be sensitive to various aqueous media, depending on the pH or reductive molecules, or may exhibit state transitions with temperature. Then, the specificity of grafting on synthetic polymers due to difference of chemical functions availability or difference of physical properties are summarized. We present next the various available routes to covalently bond the protein onto the polymeric substrates considering the functional groups coming from the monomers used during polymerization reaction or post-modification of the surfaces. We also focus our review on a major concern of grafting protein, which is avoiding the potential loss of function of the immobilized protein. Meanwhile, this review considers the different methods of characterization used to determine the grafting efficiency but also the behavior of enzymes once grafted. We finally dedicate the last part of this review to industrial application and future prospective, considering the sustainable processes based on green chemistry.

[Implementation, of multidisciplinary consultations for patients with inflammatory arthritis and treated with subcutaneous biologic DMARDs: Assessment at one year and outlook]. / Mise en place de consultations pluridisciplinaires pour des patients atteints de rhumatisme inflammatoire chronique et traités par biothérapie sous-cutanée : bilan à un an et perspectives.

INTRODUCTION: Biologics (bDMARDs) have revolutionized the prognosis of patients with inflammatory arthritis, but are not without serious side effects. The patient must be able to identify them, acquire self-care abilities or skills and adhere to their treatment. Multidisciplinary consultations, including a pharmaceutical consultation could improve the care of these patients. The pharmaceutical presence make it easier to switch to a biosimilar with etended patient support thanks to the community-hospital network. The return on investment is possible thanks to the more frequent use of biosimilars and the pricing of this type of consultation by the "Forfait de Prestation Intermédiaire". METHODOLOGY: Eligible patients are patients with rheumatoid arthritis or spondyloarthritis, treated with subcutaneous bDMARDs. The criteria assessed were patient's knowledge of their biotherapy using the Biosecure score, their medication adherence using the CQR-5, the total of switch to biosimilars perform and the financial statement of the consultations. An assessment of the actions deployed for the community-hospital network. RESULTS: Two hundred and ninety-five patients (47.4%) benefited multidisciplinary consultation. The mean score of the Biosecure score was 69.6/100 (moderate knowledge) and 261 patients (88.5%) were highly adherent. 57 patients (73%) accepted the switch to biosimilar. 197 pharmacy were contacted, all of witch for patients who receive the switch. Overall patient's satisfaction was 26.9/28. CONCLUSION: Multidisciplinary consultations with involvement of the pharmacist should optimized patient care and the management of outpatients treated with bDMARDs. Patients have already expressed their satisfaction with this course of care and the return on investment is positive.

Prevalence of radiographic changes in forelimb digits and metacarpophalangeal joints of South African endurance racehorses.

Background: If the number of events alone is considered, endurance riding is the fastest growing and the second-most popular Fédération Equestre Internationale (FEI) discipline. Lameness is the most common cause of elimination from endurance races worldwide. To the authors' knowledge, no studies have been published investigating the prevalence of radiographic changes in the forelimb digits and metacarpophalangeal joints (MCP) of endurance racehorses in South Africa. Objective: Investigate the prevalence of radiographic changes in the forelimb digits and MCP joints of South African endurance racehorses. Method: One hundred endurance racehorses registered with ERASA were volunteered by their owners to partake in the current study. Radiographs were obtained from horses competing in endurance races during the 2018-2019 endurance racing season. Radiographs included seven standard views of each distal forelimb. Radiographic images were independently evaluated by three observers, point prevalence and inter-rater reliability (IRR) was calculated. Results: Data analysis of the forelimb digits revealed a large proportion of horses with bilateral signs of dorsopalmar hoof imbalance (95%); a diversion from a straight digital axis (91%), with an extended (broken back) proximal interphalangeal joint (67%) being the most common abnormality. Osteoarthritis of the proximal (16%) and distal (7%) interphalangeal joints was only observed in a low percentage of horses. Interestingly, the hoof-distal-phalanx-ratio of the majority (86%) of horses was more than 25% but none of these horses showed any other signs of chronic laminitis, indicating that hoof-distal-phalanx-ratio might not be a reliable indicator of chronic laminitis in this population of horses. Ossification of the ungular cartilages was observed in the majority (69%) of horses, either affecting one or both distal phalanges. Descriptive data analysis of the MCP joints showed that a large proportion of horses displayed radiological signs of MCP joint osteoarthritis (28%), with 10% being bilateral. Conclusions and clinical relevance: The current study provides insight into radiographic changes and their prevalence in the distal front limbs of South African endurance racehorses. Knowledge about the prevalence of specific radiographic changes would enable equine practitioners to better evaluate and manage horses that are affected. Although no correlations were made with age, speed or number of competitive kilometres competed, the current study may serve as a basis for future research.

First report of an imported case of haemorrhagic fever with renal syndrome in South Africa.

Haemorrhagic fever with renal syndrome (HFRS) is caused by hantavirus infection. Hantaviruses are not endemic to South Africa, and we report the first detection of an imported case of HFRS in the country. The case involved a traveller from Croatia who presented to a Johannesburg hospital with an acute febrile illness with renal dysfunction. The patient reported visiting rurally located horse stables in Croatia before falling ill, and that a worker in the stables with similar illness was diagnosed with HFRS. Given the exposure history and clinical findings of the case, a clinical diagnosis of HFRS was made and confirmed by laboratory testing.

[Embryo stage impact on the risk of ectopic pregnancy after In Vitro Fecondation]. / Impact du stade embryonnaire lors du transfert sur le risque de grossesse extra-utérine en Fécondation In Vitro.

OBJECTIVES: Ectopic pregnancies are still the first mortality cause of the first semestre of pregnancy. They are much more frequent in IVF (2-5%) than in the standard population (1-2%). The aim of this study was to compare the rate of ectopic pregnancies following a fresh embryo transfer done whether at an clived embryo stage (day 2 or 3 of the embryo development) or at a blastocyst stage (day 5 or 6 of the embryo development). METHODS: This is a monocentric retrospective study including all 18 to 43 year-old patients getting pregnant (ßHCG>100 UI/L) after a fresh embryo transfer from In Vitro Fecondation with or without Intra-Cytoplasmic Sperm Injection, between January 1st 2014 and December 30th 2020 in the Hospital of Besançon (France). This population has been divided into 2 groups according to the embryo stage on the day of transfer. RESULTS: Nine hundred and twenty two patients have been included. There were statistically more ectopic pregnancies after a blastocyst transfer (n=4; 5.4%) than after a clived embryo transfer (n=14; 1.7%). (P=0.049) CONCLUSION: In our population, there were more ectopic pregnancies from blastocyst(s) transfers than from clived embryo(es).

Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome.

BACKGROUND AND PURPOSE: Sturge-Weber syndrome is a rare congenital neuro-oculo-cutaneous disorder. Although the principal mechanism of Sturge-Weber syndrome is characterized by a leptomeningeal vascular malformation, few data regarding perfusion abnormalities of the brain parenchyma are available. Therefore, the aim of this study was to assess the diagnostic performance of arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome before 1 year of age until 3.5 years of age. We hypothesized that a leptomeningeal vascular malformation has very early hypoperfusion compared with controls with healthy brains. MATERIALS AND METHODS: We compared the CBF using arterial spin-labeling perfusion imaging performed at 3T MR imaging in the brain parenchymal regions juxtaposing the leptomeningeal vascular malformation in patients with Sturge-Weber syndrome (n = 16; 3.5 years of age or younger) with the corresponding areas in age-matched controls with healthy brains (n = 58). The analysis was performed following two complementary methods: a whole-brain voxel-based analysis and a visual ROI analysis focused on brain territory of the leptomeningeal vascular malformation. RESULTS: Whole-brain voxel-based comparison revealed a significant unilateral decrease in CBF localized in the affected cortices of patients with Sturge-Weber syndrome (P < .001). CBF values within the ROIs in patients with Sturge-Weber syndrome were lower than those in controls (in the whole cohort: median, 25 mL/100g/min, versus 44 mL/100g/min; P < .001). This finding was also observed in the group younger than 1 year of age, emphasizing the high sensitivity of arterial spin-labeling in this age window in which the diagnosis is difficult. CONCLUSIONS: Arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome can help to diagnose the disease by depicting a cortical hypoperfusion juxtaposing the leptomeningeal vascular malformation.

Is it justified to search for cancer in patients with peripheral arterial disease?

BACKGROUND: Cancer is the leading cause of death in European countries, ahead of cardiovascular diseases. Cancer is also the most common co-morbidity among patients hospitalized for the management of cardiovascular diseases. Through an overview, we searched for the frequency and types of cancer associated with peripheral arterial disease (PAD) in order to address the relevance of cancer screening in patients with PAD. METHODS: We searched in PubMed database from 1996 to 2020 for retrospective and prospective cohort or cross-sectional or randomized studies evaluating the frequency of all types of cancer in patients with PAD excluding patients with aneurysmal disease. The keywords used were: peripheral arterial disease, arterial thrombosis, acute leg ischemia, critical leg ischemia, chronic leg ischemia, intermittent claudication, malignant tumor, cancer. RESULTS: Based on published studies, the frequency of cancer in patients with PAD varied widely from 3.8 to 30.4% depending on study design, population, method used to screen for cancer and study period. In medical records database and registers,cancer prevalence varied from 3,8% to 22,4% in 4 retrospective studies of patients with acute limb ischemia and from 10.5 to 30.4% in 3 prospective studies of patients with acute limb ischemia, critical ischemia or intermittent claudication. In 3 retrospective analyses from 2 population-based cohorts and health insurance claims data, incidence of cancer in patients with intermittent claudication, acute limb ischemia or peripheral arterial disease varied from 8% to 11.7%. The frequency of cancer in PAD patients appeared higher than in the general population. Tobacco-dependent cancers seemed to be the most common cancers in PAD. Cancers were also more frequent in case of anemia, amputation and iterative bypass thrombosis in few studies. CONCLUSION: Although there is no recommendation for cancer screening in patients with PAD, the high prevalence of cancer raises the question of screening patients at high risk such as those with acute or critical limb ischemia and especially in case of severe tobacco use, anemia, amputation and iterative bypass thrombosis. These results call for further studies with larger sample size and long term follow-up.

Infant botulism: Report of a misleading case and important key messages.

Infant botulism is a rare and life-threatening disease caused by the inhalation of Clostridium botulinum spores and differs from adult forms. We report the case of infant botulism in a 4-month-old boy who was exclusively breastfed without any consumption of honey. He presented with severe and acute encephalo-myelo-radiculitis. The patient was treated without success for suspected "postviral" central nervous system inflammatory disease. The diagnosis was eventually made 20 days after the onset of symptoms on the basis of a stool sample. Recovery was complete. Infant botulism should be suspected when infants present with acute flaccid paralysis or brainstem weakness and specific immunoglobulins should be administered.

Patient preferences for lifestyle behaviours in osteoporotic fracture prevention: a cross-European discrete choice experiment.

Using a discrete choice experiment, we aimed to assess patients' preferences with regard to adopting lifestyle behaviours to prevent osteoporotic fractures. Overall, the 1042 patients recruited from seven European countries were favourable to some lifestyle behaviours (i.e., engaging in moderate physical activity, taking calcium and vitamin D supplements, reducing their alcohol consumption and ensuring a normal body weight). INTRODUCTION: Alongside medical therapy, healthy lifestyle habits are recommended for preventing osteoporotic fractures. In this study, we aimed to assess patients' preferences with regard to adopting lifestyle changes to prevent osteoporotic fractures. METHODS: A discrete choice experiment was conducted in seven European countries. Patients with or at risk of osteoporosis were asked to indicate to what extent they would be motivated to adhere to 16 lifestyle packages that differed in various levels of 6 attributes. The attributes and levels proposed were physical activity (levels: not included, moderate or high), calcium and vitamin D status (levels: not included, taking supplements, improving nutrition and assuring a minimal exposure to sunlight daily), smoking (levels: not included, quit smoking), alcohol (levels: not included, moderate consumption), weight reduction (levels: not included, ensure a healthy body weight) and fall prevention (levels: not included, receiving general advice or following a 1-day fall prevention program). A conditional logit model was used to estimate a patient's relative preferences for the various attributes across all participants and per country. RESULTS: In total, 1042 patients completed the questionnaire. Overall, patients were favourable to lifestyle behaviours for preventing osteoporotic fractures. However, among the lifestyle behaviours proposed, patients were consensually not prone to engage in a high level of physical activity. In addition, in Ireland, Belgium, the Netherlands and Switzerland, patients were also not inclined to participate in a 1-day fall prevention program and Belgian, Swiss and Dutch patients were not prone to adhere to a well-balanced nutritional program. Nevertheless, we observed globally that patients felt positively about reducing their alcohol consumption, engaging in moderate physical activity, taking calcium and vitamin D supplements and ensuring a normal body weight, all measures aimed at preventing fractures. CONCLUSIONS: In a patient-centred approach, fracture prevention should take these considerations and preferences into account.

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.

The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent inflammatory phenotypes. With emerging therapeutic options, recognition of these disorders is increasingly important, and neuroimaging plays a vital role. In this article, we discuss the wide spectrum of neuroradiologic features associated with monogenic interferonopathies by reviewing the literature and illustrate these with cases from our institutions. These cases include intracerebral calcifications, white matter T2 hyperintensities, deep WM cysts, cerebral atrophy, large cerebral artery disease, bilateral striatal necrosis, and masslike lesions. A better understanding of the breadth of the neuroimaging phenotypes in conjunction with clinical and laboratory findings will enable earlier diagnosis and direct therapeutic strategies.

Imaging Features with Histopathologic Correlation of CNS High-Grade Neuroepithelial Tumors with a BCOR Internal Tandem Duplication.

BACKGROUND AND PURPOSE: A new brain tumor entity occurring in early childhood characterized by a somatic BCL6 corepressor gene internal tandem duplication was recently described. The aim of this study was to describe the radiologic pattern of these tumors and correlate this pattern with histopathologic findings. MATERIALS AND METHODS: This retrospective, noninterventional study included 10 children diagnosed with a CNS tumor, either by ribonucleic acid-sequencing analysis or deoxyribonucleic acid methylation analysis. Clinical, radiologic, and histopathologic data were collected. A neuropathologist reviewed 9 tumor samples. Preoperative images were analyzed in consensus by 7 pediatric radiologists. RESULTS: All tumors were relatively large (range, 4.7-9.2 cm) intra-axial peripheral masses with well-defined borders and no peritumoral edema. All tumors showed mild and heterogeneous enhancement and marked restriction on DWI of the solid portions. Perfusion imaging showed a relatively lower CBF in the tumor than in the adjacent normal parenchyma. Nine of 10 tumors showed areas of necrosis, with the presence of hemorrhage in 8/10 and calcifications in 4/7. Large intratumoral macroscopic veins were observed in 9/10 patients. No intracranial or spinal leptomeningeal dissemination was noted at diagnosis. CONCLUSIONS: CNS tumors with a BCL6 corepressor gene internal tandem duplication present as large intra-axial peripheral masses with well-defined borders, no edema, restricted diffusion, weak contrast enhancement, frequent central necrosis, hemorrhage and calcifications, intratumoral veins, and no leptomeningeal dissemination at the time of diagnosis. Knowledge of these imaging characteristics may aid in histologic, genomic, and molecular profiling of brain tumors in young children.