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(1) Background: Memory deficits are common sequelae of pediatric Acquired Brain Injury (ABI). Only methods for non-focused cognitive remediation are available to the pediatric field. The aims of this feasibility trial are the description, implementation, and test of an intensive program specific to the training and re-adaptation of memory function in children, called Intensive Memory-Focused Training Program (IM-FTP); (2) Methods: Eleven children and adolescents with ABI (mean age at injury = 12.2 years, brain tumor survivors excluded) were clinically assessed and rehabilitated over 1-month through IM-FTP, including physio-kinesis/occupational, speech, and neuropsychology treatments. Each patient received a psychometric evaluation and a brain functional MRI at enrollment and at discharge. Ten pediatric controls with ABI (mean age at injury = 13.8 years) were clinically assessed, and rehabilitated through a standard program; (3) Results: After treatment, both groups had marked improvement in both immediate and delayed recall. IM-FTP was associated with better learning of semantically related and unrelated words, and larger improvement in immediate recall in prose memory. Imaging showed functional modification in the left frontal inferior cortex; (4) Conclusions: We described an age-independent reproducible multidisciplinary memory-focused rehabilitation protocol, which can be adapted to single patients while preserving inter-subject comparability, and is applicable up to a few months after injury. IM-FTP will now be employed in a powered clinical trial., Competing Interests: The authors declare no conflict of interest.

Interventional radiology is today considered the first-line treatment for osteoid osteoma both in the form of needle-guided technique of ablation (Radiofrequency) and of needleless technique (magnetic resonance-guided focused ultrasound surgery). The follow-up study of the procedures is mainly clinical, since the disappearance of pain is consistent with the success of the procedure. However, due to the minimally invasive and innovative nature of the approach, interpretation of the follow-up imaging could be ambiguous and misleading. Aim of our review was to define the main findings on the imaging that can best describe the regular evolution of these types of treatment. In particular, four findings were considered: (1) bone marrow oedema; (2) reactive phenomena (perilesional inflammatory reaction for extra-articular lesions or synovial reaction for intra-articular lesions); (3) bone remodelling (disappearance of the nidus and bone healing); (4) ring sign (considered as the granulation tissue around the nidus treated). These findings were evaluated using MRI and CT with a follow-up study that lasted up to 24 months.

Bone metastasis in the spine are lesions that are very challenging to manage because of pain, possible respiratory and neurological complications due to the closeness with the spinal cord. In fact, a fracture of a vertebra weakened by a pathological tissue can occur. In this paper, an experience of a single center in treating bone metastasis in the vertebral soma is reported (both fractured than with an increased risk of fracture) with a combined procedure of ablation, vertebroplasty and radiotherapy. This combined strategy aims to obtain an increased ability to treat the pathological tissue (ablation and radiotherapy) and a stabilization of the osteolytic lesion (vertebroplasty). We evaluated the outcome of this procedure in 12 lesions (in 11 patients) with a follow-up (from 6 to 48 months) with clinical and imaging data. Patients showed an immediate, rapid and persistent regression of the symptomatology in all lesions except two. Moreover, a stability of the disease in the bone segment treatment was reached. Even if this is a pilot study for the number of patients and the follow-up, we believe that this approach could be promising as these early results are. In specific clinical conditions and selected patients, this study seems to be possible to perform a curative approach.

Survival of pediatric patients with brain tumor has increased over the past 20 years, and increasing evidence of iatrogenic toxicities has been reported. In follow-ups, images are acquired at different time points where substantial changes of brain morphology occur, due to childhood physiological development and treatment effects. To address the image registration complexity, we propose two multi-metric approaches (M plus , M dot ), combining mutual information (MI) and normalized gradient field filter (NGF). The registration performance of the proposed metrics was assessed on a simulated dataset (Brainweb) and compared with those obtained by MI and NGF separately, using mean magnitude and mean angular errors. The most promising metric (M plus ) was then selected and tested on a retrospective dataset comprising 45 pediatric patients who underwent focal radiotherapy for brain cancer. The quality of the realignment was scored by a radiation oncologist using a perceived misalignment metric (PM). All patients but one were assessed as PM ≤ 2 (good alignment), but the remaining one, severely affected by hydrocephalus and pneumocephalus at the first MRI acquisition, scored PM = 5 (unacceptable). These preliminary findings suggest that M plus might improve the registration accuracy in complex applications such as pediatric oncology, when data are acquired throughout the years of follow-up, and is worth investigating. Graphical abstract Graphical abstract showing the clinical workflow of the overall registration procedure including the three rigid steps, the fourth deformable step, the reference MRI and the registered MRI as well as the contoured ROIs. The registration performance is assessed by means of the Perceived Misalignment score (PM).

Background: Duchenne muscular dystrophy (DMD) is characterized by progressive weakness and wasting of skeletal, cardiac, and respiratory muscles, with consequent cardiopulmonary failure as the main cause of death. Reliable outcome measures able to demonstrate specific trends over disease progression are essential., Purpose: To investigate MRI as a noninvasive imaging modality to assess diaphragm impairment in DMD. In particular, we sought to correlate MRI measurement of diaphragm structure and function with pulmonary function tests and with the abdominal volumes (V AB ) measured by optoelectronic plethysmography, being an index of the action of the diaphragm., Study Type: Cross-sectional study., Population: Twenty-six DMD patients (17.9 ± 6.2 years) and 12 age-matched controls (17.8 ± 5.9 years)., Field Strength/sequence: 3-Point gradient echo Dixon sequence at 3T., Assessment: Images were acquired in breath-hold at full-expiration (EXP) and full-inspiration (INSP). INSP and EXP lung volumes were segmented and the diaphragm surface was reconstructed as the bottom surface of the left and the right lung. The inspiratory and the expiratory diaphragm surfaces were aligned by a nonrigid iterative closest point algorithm. On MRI we measured: 1) craniocaudal diaphragmatic excursion; 2) diaphragm fatty infiltration., Statistical Tests: Three-parameter sigmoid regression, one-way analysis of variance (ANOVA), Spearman's correlation., Results: In patients, diaphragm excursion decreased with age (r 2 = 0.68, P < 0.0001) and fat fraction increased (r 2 = 0.51, P = 0.0002). In healthy subjects, diaphragm excursion and fat fraction had no relationship with age. Diaphragm excursion decreased with decreasing FEV 1 %pred (r = 0.78, P < 0.0001) and FVC %pred (r = 0.76, P < 0.0001) and correlated with V AB (r = 0.60, P = 0.0002). Fatty infiltration increased with decreasing FEV1 %pred (r = -0.88, P < 0.0001) and FVC %pred (r = -0.88, P < 0.0001)., Data Conclusion: The progressive structural and functional diaphragm impairment is highly related to pulmonary function tests and to V AB . The results suggest that MRI might represent a new and noninvasive tool for the functional and structural assessment of the diaphragm., Level of Evidence: 2 Technical Efficacy: Stage 5 J. Magn. Reson. Imaging 2020;51:461-471., (© 2019 International Society for Magnetic Resonance in Medicine.)

Purpose: To assess the MRI modifications of the intervertebral disc (IVD) treated by chemiodiscolysis using T2 mapping sequences., Methods: Thirty sciatica patients (17 males, 13 females, mean age 47.52 years) were enrolled for percutaneous CT-guided O 2 -O 3 chemiodiscolysis treatment. As a control group, we enrolled 30 patients who were treated by CT-guided periradicular injections. All patients were submitted to clinical (using VAS and Oswestry Disability index (ODI)) and imaging studies to evaluate the intervertebral disc area (IDA) and T2 mapping values of the IVD before and at 1-month follow-up., Results: In the study group, pre-treatment IDA mean values were 20.47 ± 1.62 cm 2 , with significant reduction at the follow-up (P < 0.05). Mean pre-treatment T2 relaxation time values were 38.80 ± 4.51 ms, 44.05 ± 0.91 ms, and 45.45 ± 14.11 ms for anterior annulus fibrosus, nucleus pulposus (NP), and posterior annulus fibrosus, respectively, with significant increase at the level of the NP (P < 0.05) at the follow-up. Mean pre-treatment ODI and VAS scores were 21.5 ± 10.6 and 8.5 ± 0.57, with significant improvement at the post-treatment follow-up (P < 0.05). In the control group, despite clinical improvement, we did not find significant IVA reduction nor significant T2 values change after treatment. Correlation analysis of T2 mapping relaxation time values showed significant correlation of NP T2 mapping value with both the reduction of IDA (0.81, P < 0.001) and the improvement of VAS and ODI scores (0.86, P < 0.001) at 1 month. In the control group, we did not find any statistically significant correlation., Conclusions: T2 mapping may be a useful indicator to predict disc shrinkage and the clinical response to CT-guided O 2 -O 3 injection.

Clinical management of several pathologies of the lower extremity joint relies on instrumental imaging evaluation. The assessment of joint changes with physiologic load requires studies using positions with the patient standing. Weight-bearing radiographs are the mainstay for the evaluation of several conditions such as knee osteoarthritis, pes planus, and hallux valgus, in particular to obtain measurements of articular parameters, especially for presurgical studies. In the last few years, dedicated magnetic resonance imaging and computed tomography scanners have also been developed to obtain high-resolution, multiplanar, and sectional images of the lower extremity joints during weight-bearing. These techniques provide detailed information on joint structure modifications under load in both physiologic and pathologic conditions to improve the diagnostic accuracy of weight-bearing studies., Competing Interests: None declared., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Degenerative osteoarthropathy is one of the leading causes of the pain and disability from musculoskeletal disease in the adult population. Magnetic resonance imaging (MRI) allows optimal visualization of all tissues involved in degenerative osteoarthritis disease process, mainly the articular cartilage. In addition to qualitative and semiquantitative morphologic assessment, several MRI-based advanced techniques have been developed to allow characterization and quantification of the biochemical cartilage composition. These include quantitative analysis and several compositional techniques (T1 and T2 relaxometry measurements and mapping, sodium imaging, delayed gadolinium-enhanced MRI of cartilage dGEMRIC, glycosaminoglycan-specific chemical exchange saturation transfer gagCEST, diffusion-weighted imaging DWI and diffusion tensor imaging DTI). These compositional MRI techniques may have the potential to serve as quantitative, reproducible, noninvasive and objective endpoints for OA assessment, particularly in diagnosis of early and pre-radiographic stages of the disease and in monitoring disease progression and treatment effects over time.

Introduction: enchondromas rarely exceed 3-6 cm in long bones. Although the risk of developing secondary chondrosarcoma has been reported up to 4% in solitary lesions, it is not known if size represents a risk factor for transformation., Objective: to describe three exceptional cases of enchondromas of the entire femur whereof one dedifferentiated in chondrosarcoma., Results: two patients present stable disease at 5 and 6 years of follow-up; the third, already diagnosed with a dedifferentiated chondrosarcoma, died 14 months after the index surgery for systemic disease., Conclusion: based on these observations, our hypothesis is that lesion size is an important risk factor for malignant transformation., (© 2019 Professor P K Surendran Memorial Education Foundation. Published by Elsevier B.V. All rights reserved.)

The purpose of this study was to evaluate temporal stability, multi-center reproducibility and the influence of covariates on a multimodal MR protocol for quantitative muscle imaging and to facilitate its use as a standardized protocol for evaluation of pathology in skeletal muscle. Quantitative T2, quantitative diffusion and four-point Dixon acquisitions of the calf muscles of both legs were repeated within one hour. Sixty-five healthy volunteers (31 females) were included in one of eight 3-T MR systems. Five traveling subjects were examined in six MR scanners. Average values over all slices of water-T2 relaxation time, proton density fat fraction (PDFF) and diffusion metrics were determined for seven muscles. Temporal stability was tested with repeated measured ANOVA and two-way random intraclass correlation coefficient (ICC). Multi-center reproducibility of traveling volunteers was assessed by a two-way mixed ICC. The factors age, body mass index, gender and muscle were tested for covariance. ICCs of temporal stability were between 0.963 and 0.999 for all parameters. Water-T2 relaxation decreased significantly (P < 10 -3 ) within one hour by ~ 1 ms. Multi-center reproducibility showed ICCs within 0.879-0.917 with the lowest ICC for mean diffusivity. Different muscles showed the highest covariance, explaining 20-40% of variance for observed parameters. Standardized acquisition and processing of quantitative muscle MRI data resulted in high comparability among centers. The imaging protocol exhibited high temporal stability over one hour except for water T2 relaxation times. These results show that data pooling is feasible and enables assembling data from patients with neuromuscular diseases, paving the way towards larger studies of rare muscle disorders., (© 2019 John Wiley & Sons, Ltd.)

Background: In patients with moderate and severe paediatric traumatic brain injury (TBI), we investigated the presence and severity of white matter (WM) tract damage, cortical lobar and deep grey matter (GM) atrophies, their interplay and their correlation with outcome rating scales., Methods: Diffusion tensor (DT) and 3D T1-weighted MRI scans were obtained from 22 TBI children (13 boys; mean age at insult = 11.6 years; 72.7% in chronic condition) and 31 age-matched healthy children. Patients were tested with outcome rating scales and the Wechsler Intelligence Scale for Children (WISC). DT MRI indices were obtained from several supra- and infra-tentorial WM tracts. Cortical lobar and deep GM volumes were derived. Comparisons between patients and controls, and between patients in acute (<6 months from the event) vs. chronic (≥6 months) condition were performed., Results: Patients showed a widespread pattern of decreased WM FA and GM atrophy. Compared to acute, chronic patients showed severer atrophy in the right frontal lobe and reduced FA in the left inferior longitudinal fasciculus and corpus callosum (CC). Decreased axial diffusivity was observed in acute patients versus controls in the inferior fronto-occipital fasciculus and CC. Chronic patients showed increased axial diffusivity in the same structures. Uncinate fasciculus DT MRI abnormalities correlated with atrophy in the frontal and temporal lobes. Hippocampal atrophy correlated with reduced WISC scores, whereas putamen atrophy correlated with lower functional independence measure scores., Conclusions: The study isolated a distributed fronto-temporal network of structures particularly vulnerable to axonal damage and atrophy that may contribute to cognitive deficits following TBI., (© 2019 EAN.)

MR imaging is the modality of choice to evaluate musculoskeletal pathologies of the upper limb in most settings. However, due to the complexity in anatomy, MR imaging can give a false pathologic appearance and lead to several errors in the interpretation of MR imaging findings. Also, several artifacts can be confused with pathologic entities. This article reviews the most frequently encountered conditions in shoulder, elbow, and wrist MR imaging that can represent diagnostic pitfalls mimicking true pathology, together with some possible tips and tricks that can be useful to solve these equivocal cases and achieve a correct diagnosis., (Copyright © 2019 Elsevier Inc. All rights reserved.)

This paper provides a unifying view and offers new insights on bearing-based network localizability, that is the problem of establishing whether a set of directions between pairs of nodes uniquely determines (up to translation and scale) the position of the nodes in d-space. If nodes represent cameras then we are in the context of global structure from motion. The contribution of the paper is theoretical: first, we rewrite and link in a coherent structure several results that have been presented in different communities using disparate formalisms; second, we derive some new localizability results within the edge-based formulation.

Prostate cancer (PCa) is one of the most common cancers in male population. Multiparametric prostate magnetic resonance imaging (mp-MRI) has assumed a primary role in the diagnosis of PCa, combining morphological and functional data. Among different sequences, functional diffusion weighted imaging (DWI) is a powerful clinical tool which provides information about tissue on a cellular level. However, there is a considerable overlap between either BPH (Benign Prostate Hypertrophy) and prostatic cancer condition, as a different DWI signal intensity could be shown in the normal architecture gland. Apparent diffusion coefficient (ADC) has shown an increasing accuracy in addition to the DWI analysis in detection and localization of PCa. Notably, ADC maps derived DWI sequences has shown an overall high correlation with Gleason score (GS), considering the importance of an accurate grading of focal lesion, as main predictor factor. Furthermore, beyond the comparative analysis with DWI, ADC values has proven to be an useful marker of tumor aggressiveness, providing quantitative information on tumor characteristics according with GS and Gleason pattern, even more strenuous data are needed in order to verify which ADC analysis is more accurate., Competing Interests: Conflicts of Interest: The authors have no conflicts of interest to declare.

Wrist traumas are a frequent clinical emergency for which instrumental imaging assessment is required. The purpose of this article is to review the role of imaging assessment of traumatic wrist injuries, with particular reference to fractures and associated lesions., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Assessing the risk of malignancy in the thyroid with ultrasound (US) is crucial in patients with nodules, as it can aid in selecting those who should have a fine-needle aspiration (FNA) biopsy performed. Many studies have examined whether the US characteristics of thyroid nodules are useful indicators of histological malignancy. Overall, these investigations have identified a few US features that are significantly more frequent in malignant thyroid nodules which can be coalesced into a defining set to be used as an indicator of a higher risk of malignancy. Despite these efforts, none of these classifications have been widely adopted worldwide, and there are still conflicting recommendations from different institutions. Understanding the role and appropriate utilization of these systems could facilitate the effective interpretation and communication of thyroid US findings among referring physicians and radiologists. In this comprehensive review, we outline the major US classification systems of thyroid nodules published in the last few years., Competing Interests: Conflicts of Interest: The authors have no conflicts of interest to declare.

The potentials of redox systems involving nitrogen, oxygen, and metal ions of the first-row transition series have been computed according to the general approach of the grand canonical ensemble, which leads to the equilibrium value of the reduction potential via a (complete) sampling of configuration space at a given temperature. The approach is a single configuration approach in the sense that identical molecular structures are sampled for both the oxidized and reduced species considered in water solution. In this study, the solute and a cluster of 11-12 water molecules are treated explicitly at the same level of theory and embedded in a continuum solvent. The molecular energies are computed in the framework of the density functional theory. Our approach is basically different from the approach based on the ThermoDynamic Cycle involving gas-phase calculations of the electron affinity of the oxidized species, corrected by the differential hydration energy (obtained from continuum solvent models only) between oxidized and reduced forms. The calculated redox potentials are in agreement with the available experimental data much closer than other results so far presented in the literature. Our results are very satisfactory also in the case of the 3+/2+ redox states of the first-row transition metals, i.e., systems with a high positive charge for which enhanced effects of the solvent are expected.

Background: Osteoid osteoma is a benign and painful musculoskeletal tumour that usually affects children. Current standard treatment is CT-guided radiofrequency ablation, a minimally invasive percutaneous procedure, with clinical success rates ranging between 85% and 98%. Though minimally invasive, however, this type of procedure is not free from complications., Objective: To investigate the efficacy and safety of magnetic resonance (MR)-guided focused ultrasound (MRgFUS), a needleless procedure of thermal ablation employed in the treatment of non-spinal osteoid osteoma in paediatric patients., Materials and Methods: We report the results of 33 procedures of ablation of osteoid osteoma performed with MRgFUS in three university hospitals. To ablate a lesion on the bone surface, MRgFUS employs the ultrasound energy transduced along the soft tissue. The follow-up studies lasted 24 months and were performed combining clinical and imaging data., Results: Mean age of the children was 13.8 years. The clinical outcome showed a primary success of 97%. One case alone was submitted to repeat treatment because the first one failed (secondary success). No major or minor complications were recorded. During the investigation time, no relapse of symptomatology or delayed complications were observed., Conclusion: Although our study is preliminary and limited by a low number of patients, our data show that MRgFUS is effective. This suggests that it might be useful as the first-line treatment in paediatric patients with osteoid osteoma.

Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A , TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in TUBA1A (60%) and TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.

Purpose: To evaluate the relationship between degenerative disc, endplate Modic changes (MC) type I, and pain during upright weight-bearing MRI scan of the lumbar spine in a cohort of patients with non-specific low back pain., Materials and Methods: We evaluated 38 patients with non-specific low back pain and MRI evidence of Modic I vertebral changes. The patients were evaluated in a standard and upright weight-bearing position using a dedicated MR unit. The extent of endplate MC type I, intervertebral disc height at the involved level, and degree of degeneration in the same intervertebral disc were compared. Pain was assessed through the VAS questionnaire., Results: In the upright position, the area of Modic I changes increased in 26 patients (68.4%, p ≤ 0.001) compared to the supine position. In the upright position, reduction in the disc height was found in 35 patients (92.1%). Correlation analysis showed moderate negative correlation (ρ = - 0.45) between intervertebral disc height and increase in the area of Modic I changes, and weak positive correlation (ρ = 0.12) between Pfirrmann grade and increase in the area of Modic I changes. At clinical evaluation, 30 patients (78.9%) reported worsening of low back pain standing in the upright position. Increase in VAS values on the upright position correlated significantly (ρ = 0.34) with an increase in the area of Modic I changes., Conclusions: Our results showed the modifications of Modic I changes under loading, with MRI evidence of increased MC area extent in the upright position and correlation between Modic changes extension increase and increase in pain in the standing position. Weight-bearing MRI scans represent a valuable complement to standard sequences since they provide the radiologist with additional diagnostic information about low back pain. These slides can be retrieved from Electronic Supplementary Material.

Crohn's disease (CD) is a chronic idiopathic disease and its diagnosis is based on a combination of clinical symptoms, laboratory tests and imaging data. There isn't a diagnostic gold standard: the ileocolonoscopy with mucosal biopsies represents the standard for luminal disease, while cross-sectional imaging such as Ultrasound (US), Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) can show transmural alterations and extraintestinal manifestations. CD is usually diagnosed in the young age and after baseline diagnosis, the patients have to undergo to variable follow-up depending on remission or active disease. The aim of our review is to compare Magnetic Resonance Enterography (MRE) to Ultrasonography (US) in the follow-up of CD.

Peripheral nerves can be affected by a variety of benign and malignant tumour and tumour-like lesions. Besides clinical evaluation and electrophysiologic studies, MRI is the imaging modality of choice for the assessment of these soft tissue tumours. Conventional MR sequences, however, can fail to assess the histologic features of the lesions. Moreover, the precise topographical relationship between the peripheral nerve and the tumor must be delineated preoperatively for complete tumour resection minimizing nerve damage. Using Diffusion tensor imaging (DTI) and tractography, it is possible to obtain functional information on tumour and nerve structures, allowing the assess anatomy, function and biological features. In this article, we review the technical aspects and clinical application of DTI for the evaluation of peripheral nerve tumours.

Radiation-induced brain cavernomas have been mainly reported in children who underwent radiotherapy for medulloblastoma, leukemia, or low-grade glioma. Otherwise, the "de novo" appearance of a cavernoma in an elderly long-survivor patient after resection and radiotherapy of a glioblastoma is a rare event. We report the case of a 62-year-old female patient who underwent surgical resection of a right temporal glioblastoma, followed by radiation therapy of the operative field and surrounding brain and concomitant adjuvant temozolomide. Four years after the operation, a follow-up Magnetic Resonance revealed a good tumor control and a small round lesion at the superior surface of the right cerebellar hemisphere, close to the margins of the previous irradiation field. The radiological items were consistent with a cavernous angioma. Because of the small size of the malformation and the absence of related symptoms, no treatment was performed. The patient died for tumor progression 86 months after the initial operation, with unchanged cerebellar cavernoma. The occurrence of a cavernous angioma in an elderly patient after radiotherapy for brain glioblastoma is an exceptional event; the distribution of radiotherapy-induced cavernous malformations reported in current literature is presented and the mechanism of their formation is discussed.

The lesions of the soft tissues are rare and extremely heterogeneous; even if the surgical treatment is usually the standard therapy, the role of the interventional radiology (IR) in this field is growing up for multiple reasons. First, because the imaging alone usually is not able to ensure a definitive diagnosis, IR has a basic role in the staging: the percutaneous biopsy is infact an irreplaceable step. Moreover, biopsy is necessary not only for histologic evaluations but also for the biochemical and molecular studies. Furthermore, the proved safety and effectiveness of IR in a multiple oncologial applications prompt a wider use also in this field.

Imaging evaluation of soft tissue tumors is important for the diagnosis, staging, and follow-up. Magnetic resonance imaging (MRI) is the preferred imaging modality due to its multiplanarity and optimal tissue contrast resolution. However, standard morphological sequences are often not sufficient to characterize the exact nature of the lesion, addressing the patient to an invasive bioptic examination for the definitive diagnosis. The recent technological advances with the development of functional MRI modalities such as diffusion-weighted imaging, dynamic contrast-enhanced perfusion imaging, magnetic resonance spectroscopy, and diffusion tensor imaging with tractography have implemented the multiparametricity of MR to evaluate in a noninvasive manner the biochemical, structural, and metabolic features of tumor tissues. The purpose of this article is to review the state of the art of these advanced MRI techniques, with focus on their technique and clinical application.

The pineal gland can be involved in a variety of neoplastic and congenital masses and tumors. Pineal gland neoplasms occur more frequently in children, accounting for 3-8% of intracranial tumors in the pediatric population. Pineal cysts are small lesions usually asymptomatic and encountered incidentally. Pathologic processes involving the pineal region produce signs and symptoms related to the mass effect on the adjacent structures and invasion of surrounding structures. These include several acute symptoms, such as increased intracranial pressure syndrome from obstruction of the aqueduct and consequent hydrocephalus, and Parinaud syndrome. Pineal apoplexy is rare and refers to the sudden neurological deterioration following hemorrhage in the pineal gland, most commonly into a pineal cyst. Knowledge of the clinical presentation and imaging features of these lesions is essential to narrow the differential diagnosis, especially when presenting with acute onset., Competing Interests: Conflicts of Interest: The authors have no conflicts of interest to declare.

Described are the syntheses of several Ni(μ-SR) 2 Fe complexes, including hydride derivatives, in a search for improved models for the active site of [NiFe]-hydrogenases. The nickel(II) precursors include (i) nickel with tripodal ligands: Ni(PS 3 ) - and Ni(NS 3 ) - (PS 3 3- = tris(phenyl-2-thiolato)phosphine, NS 3 F 3- = tris(benzyl-2-thiolato)amine), (ii) traditional diphosphine-dithiolates, including chiral diphosphine R,R-DIPAMP, (iii) cationic Ni(phosphine-imine/amine) complexes, and (iv) organonickel precursors Ni( o-tolyl)Cl(tmeda) and Ni(C 6 F 5 ) 2 . The following new nickel precursor complexes were characterized: PPh 4 [Ni(NS 3 )] and the dimeric imino/amino-phosphine complexes [NiCl 2 (PCH═N An )] 2 and [NiCl 2 (PCH 2 NH An )] 2 (P = Ph 2 PC 6 H 4 -2-). The iron(II) reagents include [CpFe(CO) 2 (thf)]BF 4 , [Cp*Fe(CO)(MeCN) 2 ]BF 4 , FeI 2 (CO) 4 , FeCl 2 (diphos)(CO) 2 , and Fe(pdt)(CO) 2 (diphos) (diphos = chelating diphosphines). Reactions of the nickel and iron complexes gave the following new Ni-Fe compounds: Cp*Fe(CO)Ni(NS 3 ), [Cp(CO)Fe(μ-pdt)Ni(dppbz)]BF 4 , [( R,R-DIPAMP)Ni(μ-pdt)(H)Fe(CO) 3 ]BAr F 4 , [(PCH═N An )Ni(μ-pdt)(Cl)Fe(dppbz)(CO)]BF 4 , [(PCH 2 NH An )Ni(μ-pdt)(Cl)Fe(dppbz)(CO)]BF 4 , [(PCH═N An )Ni(μ-pdt)(H)Fe(dppbz)(CO)]BF 4 , [(dppv)(CO)Fe(μ-pdt)] 2 F 2 Ni]}BF 4 , and (C 6 F 5 ) 2 Ni(μ-pdt)Fe(CO) 2 (dppv) (DIPAMP = (CH 2 P(C 6 H 4 -2-OMe) 2 ) 2 ; BAr F 4 - = [B(C 6 H 3 -3,5-(CF 3 ) 2 ] 4 - )) Within the context of Ni-(SR) 2 -Fe complexes, these new complexes feature new microenvironments for the nickel center: tetrahedral Ni, chirality, imine, and amine coligands, and Ni-C bonds. In the case of {H[(dppv)(CO)Fe(μ-pdt)] 2 Ni} + , four low-energy isomers are separated by ≤3 kcal/mol, one of which features a biomimetic HNi(SR) 4 site, as supported by density functional theory calculations.

Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI)., Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases., Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases)., Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations., Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts.

Catalytic H 2 oxidation has been dissected by means of DFT into the key steps common to the Fe 2 unit of both the [FeFe]-hydrogenase cofactor and selected biomimics. The aim was to elucidate the molecular details underlying the very different performances of the two systems. We found that the better enzyme performance is based on a single iron atom that is maintained electron-poor, favoring H 2 binding, although embedded within a highly electron-rich cofactor, ensuring a facile oxidation of the Fe 2 -H 2 adduct. This is due to 1) CN - coordinating to both iron atoms, due to their amphipathic Lewis acid/base properties, and 2) the 4Fe4S subunit further withdrawing electrons from the Fe 2 core. Preserving a moderate electron deficiency at a single iron also helps the cofactor preserve hydride affinity, which favors H 2 cleavage. Such valuable characteristics allow the biocatalyst to turnover close to equilibrium conditions. All previous biomimicry has shown, in contrast, the impossibility to properly balance the two apparently contrasting aforementioned requisites, although evident progress has been made by the H 2 -ase community. Disclosure of the differences identified could inspire the design of novel biomimics, for instance, reconsidering the use of CN - in the catalyst architecture. Indeed, in the presence of bases normally employed in oxidative catalysis, undesired stable protonation at coordinated CN - , which affects the opposite process (proton reduction), could be overcome., (© 2019 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)

Interventional radiology provides local management of bone metastases (BM) with a palliative intent in most cases, or with a curative intent in selected patients. Its role has rapidly expanded in the last decade, offering new treatment solutions often in combination with surgery, radiation therapy and medical treatments. The aim of the present paper is to increase awareness, acceptance and adoption of interventional radiology procedures for the treatment of BM; and to present the joint position of the Italian College of Musculoskeletal Radiology and the Italian College of Interventional Radiology.

Background: Interventional radiology, thanks to its low invasiveness and possibility to reduce the average time for the patients to come back to their normal activity, is becoming more and more promising and diffused in multiple fields. Employed without needles, MRgFUS is probably the less invasive techniques among the ones belonging to the field of interventional radiology. Purpose: To evaluate safety and effectiveness of MRgFUS in the treatment of a rare and benign, though disabling, bone lesion: intra-articular osteoblastoma. Materials and methods: A retrospective study was carried out on 6 patients (mean, 21 years) treated in the last 2 years with MRgFUS for symptomatic, histologically proved intra-articular osteoblastoma. The main inclusion criterion was the presence of a good acoustic window. The procedures consisted in MR-guided ablation, using high intensity ultrasound beams focused on the target lesion. Spinal anesthesia or peripheral nerve block was used. Clinical (based on pain and functional scales) and imaging follow-up studies were performed up to 1 year after treatment. Complications were recorded. Multiple linear regression and analysis of variance were used to assess correlations. Results: All the procedures were technically successful; no complications were observed. Painful symptomatology decreased of 88% at 6 months and 98% at 12 months ( p  < 0.0001), and was associated to functional improvement ( p  = 0.002). MRI and CT controls showed disappearance of all signs of disease and bone inflammation with a marked tendency to bone healing. Conclusion: This study shows the safety and effectiveness of MRgFUS in the treatment of intra-articular osteoblastoma with a good acoustic window.

Interventional radiology has experienced an exponential growth in the last years. Nowadays it is possible to treat painful benign lesions or metastases with optimal results in terms of pain management and disease control. Among the benign lesions, osteoid osteoma is the most frequently treated with minimal invasive techniques and the results are excellent. Another lesion, traditionally treated with surgery (osteoblastoma) represent today another field of application. In the oncological field, metastases are, numerically, the most diffuse indications for treatment. Research carried out during the last decades has provided the interventional radiologist with a great variety of techniques of ablation and devices for monitoring the sensitive structures close to the target lesion. New ablation techniques and monitoring devices contribute to the achievement of significantly increasing rates of effectiveness and safety of interventional radiology procedures.

A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal proliferation, migration and cortical laminar organisation. Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or "Tubulinopathies". The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. Well-known hallmarks of the tubulinopathies include dysmorphism of the basal ganglia (fusion of the caudate nucleus and putamen with absence of the anterior limb of the internal capsule), midline commissural structures hypoplasia and/or agenesis (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, cerebellar hypoplasia or dysplasia and dysmorphism of the hind-brain structures. The cortical and extra-cortical brain phenotypes observed are largely dependent on the specific tubulin gene affected. In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In addition, the most typical neuroimaging patterns of malformations of cortical development associated with tubulin gene mutations detected on the basis of our own experience are described., (Copyright © 2018. Published by Elsevier Masson SAS.)

Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Recognizing the common imaging phenotypes present in tubulinopathies can prove invaluable in directing the genetic workup for a patient with brain malformations.

Tensor-based morphometry (TBM) performed using T1-weighted images (T1WIs) is a well-established method for analyzing local morphological changes occurring in the brain due to normal aging and disease. However, in white matter regions that appear homogeneous on T1WIs, T1W-TBM may be inadequate for detecting changes that affect specific pathways. In these regions, diffusion tensor MRI (DTI) can identify white matter pathways on the basis of their different anisotropy and orientation. In this study, we propose performing TBM using deformation fields constructed using all scalar and directional information provided by the diffusion tensor (DTBM) with the goal of increasing sensitivity in detecting morphological abnormalities of specific white matter pathways. Previously, mostly fractional anisotropy (FA) has been used to drive registration in diffusion MRI-based TBM (FA-TBM). However, FA does not have the directional information that the tensors contain, therefore, the registration based on tensors provides better alignment of brain structures and better localization of volume change. We compare our DTBM method to both T1W-TBM and FA-TBM in investigating differences in brain morphology between patients with complicated hereditary spastic paraplegia of type 11 (SPG11) and a group of healthy controls. Effect size maps of T1W-TBM of SPG11 patients showed diffuse atrophy of white matter. However, DTBM indicated that atrophy was more localized, predominantly affecting several long-range pathways. The results of our study suggest that DTBM could be a powerful tool for detecting morphological changes of specific white matter pathways in normal brain development and aging, as well as in degenerative disorders., (© 2018 Wiley Periodicals, Inc.)

Alzheimer's disease (AD) involves a number of factors including an anomalous interaction of copper with the amyloid peptide (Aβ), inducing oxidative stress with radical oxygen species (ROS) production through a three-step cycle in which O2 is gradually reduced to superoxide, oxygen peroxide and finally OH radicals. The purpose of this work has been to investigate the reactivity of 14 different Cu(ii)-Aβ coordination models with the aim of identifying on an energy basis (Density Functional Theory (DFT) and classical Molecular Dynamics (MD)) the redox competent form(s). Accordingly, we have specifically focused on the first three steps of the cycle, i.e. ascorbate binding to Cu(ii), Cu(ii) → Cu(i) reduction and O2 reduction to O2-. Compared to the recent literature, our results broaden the set of possible redox competent metallopeptide forms responsible for ROS production. Indeed, in addition to the three-coordinated species containing one His ligand, a N-terminal amine group and the carboxylate side chain of the Asp1 residue of Aβ already proposed, we found two other Cu-Aβ coordination modes involving two histidines.

The diffusion-weighted magnetic resonance imaging (dMRI) signal measured in vivo arises from multiple diffusion domains, including hindered and restricted water pools, free water and blood pseudo-diffusion. Not accounting for the correct number of components can bias metrics obtained from model fitting because of partial volume effects that are present in, for instance, diffusion tensor imaging (DTI) and diffusion kurtosis imaging (DKI). Approaches that aim to overcome this shortcoming generally make assumptions about the number of considered components, which are not likely to hold for all voxels. The spectral analysis of the dMRI signal has been proposed to relax assumptions on the number of components. However, it currently requires a clinically challenging signal-to-noise ratio (SNR) and accounts only for two diffusion processes defined by hard thresholds. In this work, we developed a method to automatically identify the number of components in the spectral analysis, and enforced its robustness to noise, including outlier rejection and a data-driven regularization term. Furthermore, we showed how this method can be used to take into account partial volume effects in DTI and DKI fitting. The proof of concept and performance of the method were evaluated through numerical simulations and in vivo MRI data acquired at 3 T. With simulations our method reliably decomposed three diffusion components from SNR = 30. Biases in metrics derived from DTI and DKI were considerably reduced when components beyond hindered diffusion were taken into account. With the in vivo data our method determined three macro-compartments, which were consistent with hindered diffusion, free water and pseudo-diffusion. Taking free water and pseudo-diffusion into account in DKI resulted in lower mean diffusivity and higher fractional anisotropy values in both gray and white matter. In conclusion, the proposed method allows one to determine co-existing diffusion compartments without prior assumptions on their number, and to account for undesired signal contaminations within clinically achievable SNR levels., (© 2018 The Authors. NMR in Biomedicine published by John Wiley & Sons Ltd.)

Electrochemical oxidation of the complex [Fe 2 (CO) 4 (κ 2 -dmpe)(μ-adt Bn )] (adt Bn =(SCH 2 ) 2 NCH 2 C 6 H 5 , dmpe=Me 2 PCH 2 CH 2 PMe 2 ) (1) has been studied by cyclic voltammetry (CV) in acetonitrile and in dichloromethane in the presence of various substrates L (L=MeCN, trimethylphosphite, isocyanide). The oxidized species, [1-MeCN](PF 6 ) 2 , [1-(P(OMe) 3 ) 2 ](PF 6 ) 2 and [1-(RNC) 4 ](PF 6 ) 2 (R=tert-butyl, xylyl), have been prepared and characterized by IR and NMR spectroscopies and, except [1-MeCN](PF 6 ) 2 , by X-ray diffraction analysis. The crystallographic structures of the new Fe II Fe II complexes reveal that the association of one additional ligand (P(OMe) 3 or RNC) occurs and, according to the nature of the substrates, further substitutions of one or three carbonyl groups, by P(OMe) 3 or RNC, respectively, arise. Density functional theory (DFT) calculations have been performed to elucidate and discriminate, in each case, the mechanisms leading to the corresponding oxidized species. Moreover, the different degree of ligand substitution in the diiron core has been theoretically rationalized., (© 2018 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)

Introduction: The aim of this study was to apply quantitative MRI (qMRI) to assess structural modifications in thigh muscles of subjects with limb girdle muscular dystrophy (LGMD) 2A and 2B with long disease duration., Methods: Eleven LGMD2A, 9 LGMD2B patients and 11 healthy controls underwent a multi-parametric 3T MRI examination of the thigh. The protocol included structural T1-weighted images, DIXON sequences for fat fraction calculation, T2 values quantification and diffusion MRI. Region of interest analysis was performed on 4 different compartments (anterior compartment, posterior compartment, gracilis, sartorius)., Results: Patients showed high levels of fat infiltration as measured by DIXON sequences. Sartorius and anterior compartment were more infiltrated in LGMD2B than LGMD2A patients. T2 values were mildly reduced in both disorders. Correlations between clinical scores and qMRI were found., Conclusions: qMRI measures may help to quantify muscular degeneration, but careful interpretation is needed when fat infiltration is massive. Muscle Nerve 58: 550-558, 2018., (© 2018 Wiley Periodicals, Inc.)

We describe the results of a functional and structural brain connectivity analysis comparing a homogeneous group of 10 young adults with Williams Syndrome (WS; 3 females, age 20. 7 ± 3.7 years, age range 17.4-28.7 years) to a group of 18 controls of similar age (3 females, age 23.9 ± 4.4 years, age range 16.8-30.2), with the aim to increase knowledge of the structure - function relationship in WS. Subjects underwent a 3T brain MRI exam including anatomical, functional (resting state) and structural (diffusion MRI) sequences. We found convergent anomalies in structural and functional connectivity in the WS group. Altered Fractional Anisotropy (FA) values in parieto-occipital regions were associated with increased connectivity in the antero-posterior pathways linking parieto-occipital with frontal regions. The analysis of resting state data showed altered functional connectivity in the WS group in main brain networks (default mode, executive control and dorsal attention, sensori-motor, fronto-parietal, ventral stream). The combined analysis of functional and structural connectivity displayed a different pattern in the two groups: in controls the highest agreement was found in frontal and visual areas, whereas in WS patients in posterior regions (parieto-occipital and temporal areas). These preliminary findings may reflect an altered "wiring" of the brain in WS, which can be driven by hyper-connectivity of the posterior regions as opposed to disrupted connectivity in the anterior areas, supporting the hypothesis that a different brain (organization) could be associated with a different (organization of) behavior in Williams Syndrome.

Friedreich's ataxia (FRDA) is a rare hereditary neurodegenerative disorder caused by a GAA repeat expansion in the FXN gene. There is still no cure or quantitative biomarkers reliaby correlating with the progression rate and disease severity. Investigation of functional and structural alterations characterizing white (WM) and gray matter (GM) in FRDA are needed prerequisite to monitor progression and response to treatment. Here we report the results of a multimodal cross-sectional MRI study of FRDA including Voxel-Based Morphometry (VBM), diffusion-tensor imaging (DTI), functional MRI (fMRI), and a correlation analysis with clinical severity scores. Twenty-one early-onset FRDA patients and 18 age-matched healthy controls (HCs) were imaged at 3T. All patients underwent a complete cognitive and clinical assessment with ataxia scales. VBM analysis showed GM volume reduction in FRDA compared to HCs bilaterally in lobules V, VI, VIII (L>R), as well as in the crus of cerebellum, posterior lobe of the vermis, in the flocculi and in the left tonsil. Voxel-wise DTI analysis showed a diffuse fractional anisotropy reduction and mean, radial, axial (AD) diffusivity increase in both infratentorial and supratentorial WM. ROI-based analysis confirmed the results showing differences of the same DTI metrics in cortico-spinal-tracts, forceps major, corpus callosum, posterior thalamic radiations, cerebellar penduncles. Additionally, we observed increased AD in superior (SCP) and middle cerebellar peduncles. The WM findings correlated with age at onset (AAO), short-allelle GAA, and disease severity. The intragroup analysis of fMRI data from right-handed 14 FRDA and 15 HCs showed similar findings in both groups, including activation in M1, insula and superior cerebellar hemisphere (lobules V-VIII). Significant differences emerged only during the non-dominant hand movement, with HCs showing a stronger activation in the left superior cerebellar hemisphere compared to FRDA. Significant correlations were found between AAO and the fMRI activation in cerebellar anterior and posterior lobes, insula and temporal lobe. Our multimodal neuroimaging protocol suggests that MRI is a useful tool to document the extension of the neurological impairment in FRDA.

This fMRI study investigated mental simulation of state/psychological and action verbs during adolescence. Sixteen healthy subjects silently read verbs describing a motor scene or not (STIMULUS: motor, state/psychological verbs) and they were explicitly asked to imagine the situation or they performed letter detection preventing them from using simulation (TASK: imagery vs. letter detection). A significant task by stimuli interaction showed that imagery of state/psychological verbs, as compared to action stimuli (controlled by the letter detection) selectively increased activation in the right supramarginal gyrus/rolandic operculum and in the right insula, and decreased activation in the right intraparietal sulcus. We compared these data to those from a group of older participants (Tomasino et al. 2014a). Activation in the left supramarginal gyrus decreased for the latter group (as compared to the present group) for imagery of state/psychological verbs. By contrast, activation in the right superior frontal gyrus decreased for the former group (as compared to the older group) for imagery of state/psychological verbs., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: Osteoblastoma (OB) is a painful, rare, benign bone tumour usually observed in young populations, and this condition involves the spine in up to one-third of cases. We sought to focus on the minimally invasive treatment of spinal OB with radiofrequency ablation (RFA) under computed tomography (CT) guidance. When performed near the spinal cord, surgery can lead to instability of the spine, sometimes requiring additional interventions to stabilise the segments involved, and can cause the precocious onset of arthrosis or other degenerative diseases. The results were evaluated both clinically and with the aid of diagnostic imaging techniques during a 5-year follow-up study., Materials and Methods: Eleven patients affected by spinal OB were treated in a single session with biopsy and CT-guided RFA. Pre- and post-evaluations of the patients were performed both clinically and with CT and magnetic resonance imaging (MRI)., Results: Complete success in terms of pain relief was achieved in all patients. Additional treatments were not required in any patients. There were no complications. During follow-up, neither complications nor pathological findings related to the treatment were observed., Conclusions: Our experience demonstrates that RFA for spinal OB is safe and effective. One of the main advantages of this technique is represented by its lower grade of invasiveness compared with that for potentially hazardous surgical manoeuvres.

The synthesis and redox properties are presented for the electron-rich bis(monothiolate)s Fe 2 (SR) 2 (CO) 2 (dppv) 2 for R = Me ([1] 0 ), Ph ([2] 0 ), CH 2 Ph ([3] 0 ). Whereas related derivatives adopt C 2 -symmetric Fe 2 (CO) 2 P 4 cores, [1] 0 -[3] 0 have C s symmetry resulting from the unsymmetrical steric properties of the axial vs equatorial R groups. Complexes [1] 0 -[3] 0 undergo 1e - oxidation upon treatment with ferrocenium salts to give the mixed valence cations [Fe 2 (SR) 2 (CO) 2 (dppv) 2 ] + . As established crystallographically, [3] + adopts a rotated structure, characteristic of related mixed valence diiron complexes. Unlike [1] + and [2] + and many other [Fe 2 (SR) 2 L 6 ] + derivatives, [3] + undergoes C-S bond homolysis, affording the diferrous sulfido-thiolate [Fe 2 (SCH 2 Ph)(S)(CO) 2 (dppv) 2 ] + ([4] + ). According to X-ray crystallography, the first coordination spheres of [3] + and [4] + are similar, but the Fe-sulfido bonds are short in [4] + . The conversion of [3] + to [4] + follows first-order kinetics, with k = 2.3 × 10 -6 s -1 (30 °C). When the conversion is conducted in THF, the organic products are toluene and dibenzyl. In the presence of TEMPO, the conversion of [3] + to [4] + is accelerated about 10×, the main organic product being TEMPO-CH 2 Ph. DFT calculations predict that the homolysis of a C-S bond is exergonic for [Fe 2 (SCH 2 Ph) 2 (CO) 2 (PR 3 ) 4 ] + but endergonic for the neutral complex as well as less substituted cations. The unsaturated character of [4] + is indicated by its double carbonylation to give [Fe 2 (SCH 2 Ph)(S)(CO) 4 (dppv) 2 ] + ([5] + ), which adopts a bioctahedral structure.

Introduction: Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) compatible with her distal 22q13 deletion, complicated by bilateral perisylvian polymicrogyria (BPP) and urticarial rashes, unreported in PMS., Methods: Following the cytogenetic and array-comparative genomic hybridization (CGH) detection of a r(22) with SHANK3 deletion and two upstream duplications, whole-genome sequencing (WGS) in blood and whole-exome sequencing (WES) in blood and saliva were performed to highlight potential chromothripsis/chromoanagenesis events and any possible BPP-associated variants, even in low-level mosaicism., Results: WGS confirmed the deletion and highlighted inversion and displaced order of eight fragments, three of them duplicated. The microhomology-mediated insertion of partial Alu- elements at one breakpoint junction disrupted the topological associating domain joining NFAM1 to the transcriptional coregulator TCF20 . WES failed to detect BPP-associated variants., Conclusions: Although we were unable to highlight the molecular basis of BPP, our data suggest that SHANK3 haploinsufficiency and TCF20 misregulation, both associated with intellectual disability, contributed to the patient's NDD, while NFAM1 interruption likely caused her skin rashes, as previously reported. We provide the first example of chromoanasynthesis in a constitutional ring chromosome and reinforce the growing evidence that chromosomal rearrangements may be more complex than estimated by conventional diagnostic approaches and affect the phenotype by global alteration of the topological chromatin organisation rather than simply by deletion or duplication of dosage-sensitive genes., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Thyroid nodules are a common incidental finding during a routinely ultrasound (US) exam unrelated to the thyroid gland in the healthy adult population with a prevalence of 20-76%. As treated before with surgery, in the last years new minimally invasive techniques have been developed as an alternative to surgery. The aim of this review, based on newly revised guidelines, is to provide some information regarding the basic principles, indications, materials, techniques, and results of mini-invasive procedures or treatments for thyroid nodules. We performed a narrative review including both newest and representative papers and guidelines based on the different procedures of ablation techniques developed in the last years for the diagnosis and the treatment of thyroid nodules. All examined papers referred very good results in term of volume nodule reduction, improvement in related symptoms and cosmetic problems, with a very low rate of complications and side effects for all the minimally invasive technique analyzed. Obviously, some differents between technique based on different kind of thyroid nodules and different indication were found. In conclusion, many thyroid nodules nowadays could be treated thanks to the advent of new mini-invasive technique that are less expensive and present a lower risk of major complications and side effects compared to surgery., Competing Interests: Conflicts of Interest: The authors have no conflicts of interest to declare.

IgG4-related disease is a recently discovered pathological entity, histologically characterised by fibrosis and IgG4-positive plasma cell infiltration. This condition may virtually involve every site of the organism, with a various range of clinical presentations. The most commonly affected organ is the pancreatic gland, but it can also involve the biliary tract, salivary and lacrimal glands, kidneys, orbital tissues, lymph nodes, lungs and many others. More recently, IgG4-related disease has been demonstrated to involve, in rare cases, also the central nervous system, with a pattern mainly characterised by hypertrophic pachymeningitis. In this paper we evaluated the clinical and magnetic resonance imaging features of the IgG4-related disease in the central nervous system, reporting a case of brain and spinal cord involvement. In our case, in fact, a 62-year-old man complaining of paresthesia, burning dysesthesia and severe hyposthenia in the lower limbs presented with inflammatory pseudotumour with orbital involvement and focal dural and spinal root thickening.

With the introduction of new biologics such as anti-TNF-alpha antibodies and other therapies in the treatment of inflammatory arthritis, capable of halting joint destruction and functional disability, there are new pressures on diagnostic and prognostic imaging. Early demonstration of pre-erosive inflammatory features and monitoring of the long-term effects of treatment are becoming increasingly important. Early detection of synovitis offers advantages in terms of allowing early instigation of therapy and may allow the identification of those patients displaying more aggressive disease who might benefit from early intervention with expensive DMARD therapy. Advanced imaging techniques such as ultrasound (US) and magnetic resonance imaging (MRI) have focussed on the demonstration and quantification of synovitis and allow early diagnosis of inflammatory arthropathies such as rheumatoid arthritis (RA) and psoriatic arthritis (PsA). Synovitis represents a potential surrogate measure of disease activity that can be monitored using either MRI or US; the techniques have, generally, focused on monitoring synovial volume or quality as assessed by its vascularity. However to achieve these goals, standardisation and validation of US and MRI are required to ensure accurate diagnosis, reproducibility and reliability. Each modality has different strengths and weaknesses and levels of validation. This article aims to increase the awareness of radiologists and rheumatologists about this field and to encourage them to participate and contribute to the ongoing development of these modalities. Without this collaboration, it is unlikely that these modalities will reach their full potential in the field of rheumatological imaging. This review is in two parts. The first part addresses the role of US and colour or power Doppler sonography (PDUS) in the detection and monitoring of synovitis in inflammatory arthropathies. The second part will look at advanced MR imaging and Dynamic contrast-enhanced MRI techniques and in particular how they are applied to the monitoring of the disease process.