A Novel Radiological Score System to Assess the Clinical Severity in Patients with Acute Cerebellitis.

To develop a radiological score system to assess the severity of acute cerebellitis (AC) and to compare radiological severity score at the onset to cerebellar atrophy at follow-up. Clinical and MRI findings were recorded in 16 patients with AC. Radiological severity score considering topographic patterns, gray/white matter involvement, enhancement, tonsillar herniation or hydrocephalus development and clinical severity score taking into account clinical symptoms were assessed for each patient at the onset of the symptoms. Radiological and neurological sequelae were assessed at follow-up. At symptoms onset, clinical severity scale ranged from mild to severe and radiological severity score ranged from 3 to 7 with higher scores indicating a greater severity. The cut-off value of 5 for radiological score well segregated severe patients defined by clinical scale. A significant correlation between clinical scale and radiological severity scores (p < 0.001, r = 0.75) was found. At follow-up visit, all children developed cerebellar atrophy and 5 children showed neurologic sequelae while adults showed complete resolution without atrophy. Patients in whom atrophy was not observed had both older ages (p < 0.001) and a focal cerebellar involvement (p = 0.03). In patients with AC, radiological severity score may be a useful tool in evaluating clinical severity, but it is not capable to predict neither neurological sequelae nor evolution towards atrophy. Cerebellar atrophy, observed in children with AC, may be caused by several factors such as the age of patient and the extension of cerebellar involvement and it may be counterbalanced by neuronal restoring processes due to neuroplasticity.

Extremely Preterm Infants with a Near-total Absence of Cerebellum: Usefulness of Quantitative Magnetic Resonance in Predicting the Motor Outcome.

This study aims to evaluate in extremely premature infants the severity of brain structural injury causing total absence or near-total absence of cerebellar hemispheres by using MRI visual and volumetric scoring systems. It also aims to assess the role of the score systems in predicting motor outcome. We developed qualitative and quantitative MRI scoring systems to grade the overall brain damage severity in 16 infants with total absence or near-total absence of cerebellar hemispheres. The qualitative scoring system assessed the severity of macrostructural abnormalities of cerebellum, brainstem, supratentorial gray and white matters, ventricles while the quantitative scoring system weighted the loss of brain tissue volumes, and gross motor function classification system (GMFCS) was used to assess motor function at 1- and 5-year follow-ups.Positive correlations between both MRI scores and GMFCS scales were detected at follow-ups (p > 0.05), but only the volumetric score could identify those infants developing higher levels of motor impairment.Brain volumetric MRI offers an unbiassed assessment of prenatal brain damage. The quantitative scoring system, performed at term equivalent age, can be a helpful tool for predicting the long-term motor outcome in extremely preterm infants with a near-total absence of cerebellum.

Time course of sutural width during the physiological growth from birth to adulthood: CT quantitative and qualitative evaluations of sutural arches.

PURPOSE: We performed a retrospective qualitative and quantitative evaluation of the sutural changes during the physiological growth to define the age-related ossification stages of major and minor skull sutures or synchondroses. METHODS: A total of 390 healthy subjects, examined for cranio-facial trauma and whose CT scans turned out to be normal, were clustered into homogenous age-matched groups ranged from birth to 90 years. High-resolution CT was used to assess the degree of sutural closure according to a 3-grade scoring system, the sutural pattern, the width, and the density of the gap calculated as the average of two or three ROIs along each suture/synchondrosis. RESULTS: The identification of a definite pattern depended on the suture's type, the closure degree, and the width of the gap (p < 0.001). The interdigitation process was more intricate for most of vault sutures than the skull base sutures/synchondroses. Closing grades 1, 2, and 3 were associated to an identifiable sutural pattern and the cutoff value of 1.45 mm of the gap width allowed to detect an identifiable sutural pattern with the best combination of sensitivity (97%) and specificity (98%). Age and sutural closing degree were inversely related to gap width while positively related to the gap density (p < 0.001). CONCLUSION: The sutural ossification is an age-related process, distinctive for each suture, and synchondrosis; it occurs neither according to a predefined order along sutural arches nor following a sequential distribution in the cranial fossae, and some sutures continued their growth process during lifetime.

Deep cerebral venous system involvement in patients with cerebral sinus thrombosis. A proposal of neuroradiological score systems useful for clinical assessment.

PURPOSE: To develop a neuroradiological score in patients with deep cerebral venous thrombosis (DCVT), capable of assessing extension of intracranial changes and venous occlusion at diagnosis; to assess the relationship between neuroradiological and clinical features at follow-up. MATERIAL AND METHODS: In 14 patients with DCVT, we developed 2 score systems on non-enhanced and contrast-enhanced CT: Intracranial Imaging Score (IIS) and Venous Occlusion Imaging Score (VOIS). ISS considers parenchymal venous strokes, hemorrhage, mass effect, and hydrocephalus; VOIS evaluates unilateral or bilateral venous occlusion extension. Modified Rankin Scale (mRS) and vessel recanalization status were assessed at follow-up. RESULTS: At diagnosis, higher IIS was related to bilateral venous thrombosis involvement (p 0,02; r:0,60), but parenchymal strokes were not related to venous occlusion extension (unilateral or bilateral) (p > 0,05). Moreover, the symptoms' onset time did not correlate with the severity scores (p > 0,05). At follow-up, 8 out of 14 patients showed good clinical outcomes with complete recanalization and neurological improvement, 1 patient showed a poor neurological outcome, whereas 5 patients died within 1 week. Positive correlations were found between IIS and mRS (p 0,003, r = 0,73), between IIS and vessels' recanalization status (p 0,002, r = 0,75), and between vessels' recanalization status and mRS (p < 0,001, r = 0,98). CONCLUSION: Neuroradiological scores may enhance diagnostic accuracy, and they may have a predictive significance. In patients with DCVT, although intracranial involvement was not influenced by symptoms' onset time or extension of venous occlusion, clinical outcome was related to both intracranial involvement and venous recanalization state. Collateral venous drainage status may counterbalance the thrombotic process improving prognosis.

Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.

PURPOSE: To assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic craniosynostosis. METHODS: Preoperative high-resolution CT images in 39 infants with syndromic craniosynostosis were evaluated. Patients were divided into infants with and without FGFR2 mutations; each group was split according to synostotic involvement of minor sutures/synchondroses: isolated or combined involvement of middle (MCF) and posterior cranial fossae (PCF). Quantitative analysis of the midface and mandible measures was performed. Each subgroup was compared with a group of age-matched healthy subjects. RESULTS: Twenty-four patients with FGFR2 related syndromes were clustered in 3 subgroups: MCF + PCF (8 patients, 5.4 ± 1.75 months), MCF (8 patients, 3.62 ± 1.68 months), and PCF (8 patients, 2.75 ± 0.46 months). Fifteen no-FGFR2 patients were clustered in 2 subgroups: MCF + PCF (7 patients, 9.42 ± 0.78 months) and PCF (8 patients, 7.37 ± 2.92 months). Both FGFR2 and no-FGFR2 groups with involvement of minor sutures coursing in MCF showed more facial sutural synostoses. Children with minor suture/synchondrosis synostosis of MCF (MCF-PCF and MCF subgroups) showed altered position of glenoid fossa and mandibular inclination ([Formula: see text]), but children in the FGFR2 group had also reduced midfacial depth and maxillary length ([Formula: see text]). Children with minor suture/synchondrosis synostosis of PCF (PCF subgroups) had reduced posterior mandibular height, but those children in the FGFR2 group also showed reduced intergonion distance ([Formula: see text]). CONCLUSIONS: In children with syndromic craniosynostosis, both skull base and facial suture synostosis affect facial dysmorphology/hypoplasia. FGFR2 mutations may worsen facial hypoplasia both acting on bone development and causing an earlier premature closure of facial sutures.

Effects of a Multicomponent Lipid Emulsion on Brain Volumes in Extremely Low Birth Weight Infants.

OBJECTIVE: During the early weeks of life optimization of nutrition in extremely preterm infants presents a critical opportunity to attenuate the adverse neurological consequences of prematurity and potentially improve neurodevelopmental outcome. We hypothesized that the use of multicomponent lipid emulsion (MLE) in parenteral nutrition (PN) would be related to larger volume of the cerebellum on brain magnetic resonance at term of equivalent age (TEA) in extremely low birth weight (ELBW) infants. STUDY DESIGN: We analyzed the brain magnetic resonance imaging (MRI) at TEA of a cohort of preterm infants with gestational age ≤28 weeks and/or birth weight <1,000 g randomly assigned in our previous trial to receive an MLE or soybean-based lipid emulsion (SLE). The primary outcome of the study was the cerebellar volume (CeV), valued on MRI acquired at TEA. Secondary outcomes included total brain volume (TBV), supratentorial volume, brainstem volume, and CeV corrected for TBV evaluated on MRI acquired at TEA. RESULTS: MRIs at TEA of 34 infants were then analyzed: 17 in the MLE group and 17 in the SLE group. The postmenstrual age (PMA) at which MRIs were performed were comparable between the two study groups. The CeV as well as the PMA-corrected CeV were significantly higher in the MLE group than in the SLE group. No difference was found among the other brain volumes considered. CONCLUSION: Our results suggest that the use of MLE in PN could promote CeV growth in ELBW infants, valued with MRI at TEA. KEY POINTS: · Optimization of nutrition in extremely low birthweight infants.. · Use of multicomponent lipid emulsions in parenteral nutrition.. · Larger cerebellar volume with use of multicomponent lipid emulsion..

Postmortem CT pulmonary findings in SARS-CoV-2-positive cases: correlation with lung histopathological findings and autopsy results.

INTRODUCTION/PURPOSE: Postmortem computed tomography (PMCT) is a valuable tool for analyzing the death of patients with SARS-CoV-2 infection. The purpose of this study was to investigate the correlation between PMCT lung findings in autopsy cadavers positive for SARS-CoV-2 infection and the severity of COVID-19 lung disease by histopathological analysis. MATERIALS AND METHODS: We reviewed chest PMCT findings, paying particular attention to the lung parenchyma, in 8 autopsy cases positive for SARS-CoV-2. Correlations between chest PMCT and histopathological findings were assessed. Clinical conditions and comorbidities were also recorded and discussed. The primary cause of death was finally considered. RESULTS: In 6/8 cases, pulmonary PMCT findings were massive consolidation (4/8) and bilateral diffuse mixed densities with a crazy-paving pattern (2/8). These cases showed severe pulmonary signs of COVID-19 at histopathological analysis. In the remaining 2/8 cases, pulmonary PMCT findings were scant antideclive ground-glass opacities in prevalent gradient densities attributed to hypostasis. In 4/8 cases with massive consolidations, important comorbidities were noted. In 6/8 cases with severe pulmonary histopathological signs of lung COVID-19, autopsy found that the cause of death was cardiorespiratory failure. In the remaining 2/8 cases, histopathological analysis revealed lung alterations due to edema and some signs of SARS-CoV-2 infection; the cause of death was not attributed to SARS-CoV-2 infection (Table 1). DISCUSSION AND CONCLUSION: Chest PMCT findings correlate with the severity of COVID-19 lung disease at histopathology examination. According to our results, there may also be a relationship between cause of death and PMCT findings in COVID-19, which must be critically analyzed considering clinical antemortem data.

Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.

PURPOSE: To evaluate the brain volumetric changes caused by BRAF gene mutation in non-epileptic CFC patients and the influence of the age of epilepsy onset on brain development in 2 cohorts of epileptic CFC patients. METHODS: We enrolled CFC patients carrying BRAF gene mutations without epilepsy (4 patients) and with epilepsy (16 patients). CFC epileptic patients were divided into two cohorts based on the age of seizure onset: early-age onset (7 children) and late-age onset (9 adolescents). All three cohorts of patients underwent 3D FSPGR T1-weighted imaging to assess supratentorial and infratentorial brain volumes. Moreover, for each compartment, gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) volumes were measured. All measurements were compared with those of age-matched controls without neuroimaging abnormalities. RESULTS: All CFC patients showed supratentorial and infratentorial WM reduction and supratentorial ventricular enlargement (p < 0.01). However, patients with early age of epilepsy onset, compared with the other two cohorts of CFC patients, showed both GM and a more pronounced WM volume reduction (p < 0.01). CONCLUSION: In non-epileptic CFC children, we demonstrated WM volumetric reduction suggesting a direct effect of BRAF gene mutation on brain development. Nevertheless, in CFC epileptic patients, the age of epilepsy onset may contribute to brain atrophy. Brain atrophy in CFC patients, in part due to the natural history of the disease, may be worsened by epilepsy when it begins in the early ages because of interference with brain growth at that critical age of development.

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.

PURPOSE: To identify MRI-based quantitative craniofacial variables linked to airways narrowing and obstructive sleep apnea (OSA) development in children with achondroplasia. METHODS: We evaluated skull base and midface MRI in two cohorts of children affected by achondroplasia, with (group 1) or without OSA (group 2). 3DFSPGR-T1weighted images were used to assess airways volume (nasopharynx, oropharynx, and laryngopharynx), jugular foramina (JF) and hypoglossal foramina (HF) areas, foramen magnum area, cervical cord area, and maxillary retrusion (SNA angle). RESULTS: Nineteen out of 27 children with achondroplasia exhibited different degrees of obstructive respiratory impairment (n.4 mild, n.8 moderate, n.7 severe), while 8 children did not show OSA. Each group was compared with age-matched controls without neuroimaging abnormalities. Both groups showed reduced nasopharynx volume, JF areas, and SNA angle, while group 1 showed also reduced oropharynx volume, ratio of FM/cervical cord areas, and HF areas (p < 0.05). A positive correlation between nasopharynx volume and SNA angle was found in both groups, while a positive correlation among upper airways volume, JF and HF areas was found only in group 1. No correlation between upper airways volume and OSA severity was found. CONCLUSION: In children with achondroplasia, multifaced craniofacial abnormalities contribute to airways volume reduction predisposing to sleep disordered breathing. MRI-based quantitative assessment allows the appraisal of craniofacial variables linked to the development of sleep-disordered breathing such as FM stenosis, jugular and hypoglossal foramina stenosis, and retruded maxillary position and may be a valuable tool for clinical surveillance.

Characterization of high-grade pineal region lesions: the usefulness of apparent diffusion coefficient volumetric values.

BACKGROUND: High-grade pineal region tumors are rare and heterogeneous types of primary central nervous system neoplasms; radiological differential diagnosis is challenging but it is important because it has a therapeutic relevance. PURPOSE: To discriminate among high-grade pineal region tumors by combining apparent diffusion coefficient (ADC) volumetric values and qualitative features in order to predict their histology. MATERIAL AND METHODS: Twenty-two patients with high-grade pineal region tumors were assessed by qualitative and quantitative analysis. Margins, T2-weighted signal intensity, contrast enhancement, hemorrhage, calcifications, different volumetric ADC fractions (ADCmean, ADCmax, ADCmin) were evaluated and were compared to the histopathologic findings (cell count and proliferation index). RESULTS: Our qualitative imaging data showed that only margins were different among different tumors and each tumor type showed peculiar age onset. ADCmean was found the best quantitative value to discriminate high-grade tumors of the pineal region. ADCmean correlated with proliferation index but not with cell count. ADCmean values were lower in tumors with higher proliferation rate and a significant difference in ADCmean values were found between germinomas and pineoblastomas, between germinomas and papillary tumors and between papillary tumors and pineoblastomas. Moreover, the cut-off value of 0.865 × 10-3 mm2/s for ADCmean (ADC mean threshold value) could differentiate germinoma from pineoblastomas with the best combination of sensitivity and specificity. CONCLUSION: The ADCmean value measured on the whole tumor, reflecting tumor proliferative activity, may be a practical and non-invasive marker for predicting tumor histology in high-grade pineal region lesions and might be useful in preoperative assessment.

Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.

BACKGROUND: Most infants and children with achondroplasia show delayed motor skill development; however, some patients may have clinical consequences related to cranio-cervical junction stenosis and compression. PURPOSE: To assess, using brain magnetic resonance imaging (MRI), quantitative variables linked to neuromotor impairment in achondroplasic children. MATERIAL AND METHODS: In total, 24 achondroplasic children underwent pediatric neurological assessment and were grouped in two cohorts according to relevant motor skill impairment. Achondroplasic children with (n=12) and without (n=12) motor symptoms were identified, and brain MRI scans were quantitatively evaluated. 3D fast spoiled gradient echo T1-weighted images were used to assess: supratentorial intracranial volumes (SICV); supratentorial intracranial brain volume (SICBV); SICV/SICBV ratio; posterior cranial fossa volume (PCFV); posterior cranial fossa brain volume (PCBFV); PCFV/PCFBV ratio; ventricular and extra-ventricular cerebrospinal fluid (CSF) volumes; foramen magnum (FM) area; and jugular foramina (JF) areas. RESULTS: In both groups, SICV/SICBV ratio, supratentorial ventricular and extra-ventricular space volumes were increased while SICBV was increased only in the asymptomatic group (P < 0.05). PCFV/PCFBV ratio, IV ventricle, infratentorial extra-ventricular spaces volumes were reduced (P < 0.05) in the symptomatic group while PCFBV was increased only in the asymptomatic group (P < 0.05). Foramen magnum (FM) area was more reduced in the symptomatic group than the asymptomatic group (P < 0.05) but no correlation between FM area and ventriculomegaly was found (P > 0.05). CONCLUSION: Evaluation of the FM area together with infratentorial ventricular and extra-ventricular space volume reduction may be helpful in differentiating patients at risk of developing motor skill impairment. Further investigation is needed to better understand the temporal profile between imaging and motor function in order to propose possible personalized surgical treatment.

CT-based radiomics modeling for skull dysmorphology severity and surgical outcome prediction in children with isolated sagittal synostosis: a hypothesis-generating study.

PURPOSE: To investigate the potentialities of radiomic analysis and develop radiomic models to predict the skull dysmorphology severity and post-surgical outcome in children with isolated sagittal synostosis (ISS). MATERIALS AND METHODS: Preoperative high-resolution CT scans of infants with ISS treated with surgical correction were retrospectively reviewed. The sagittal suture (ROI_entire) and its sections (ROI_anterior/central/posterior) were segmented. Radiomic features extracted from ROI_entire were correlated to the scaphocephalic severity, while radiomic features extracted from ROI_anterior/central/posterior were correlated to the post-surgical outcome. Logistic regression models were built from selected radiomic features and validated to predict the scaphocephalic severity and post-surgical outcome. RESULTS: A total of 105 patients were enrolled in this study. The kurtosis was obtained from the feature selection process for both scaphocephalic severity and post-surgical outcome prediction. The model predicting the scaphocephalic severity had an area under the curve (AUC) of the receiver operating characteristic of 0.71 and a positive predictive value of 0.83 for the testing set. The model built for the post-surgical outcome showed an AUC (95% CI) of 0.75 (0.61;0.88) and a negative predictive value (95% CI) of 0.95 (0.84;0.99). CONCLUSION: Our results suggest that radiomics could be useful in quantifying tissue microarchitecture along the mid-suture space and potentially provide relevant biological information about the sutural ossification processes to predict the onset of skull deformities and stratify post-surgical outcome.

Assessment of Sexual Dysfunction in Cervical Cancer Patients after Different Treatment Modality: A Systematic Review.

Background and Objectives: Cervical cancer is a leading cause of mortality among women. Chemo-radiation followed by interventional radiotherapy (IRT) is the standard of care for stage IB-IVA FIGO. Several studies have shown that image-guided adaptive IRT resulted in excellent local and pelvic control, but it is associated with vaginal toxicity and intercourse problems. The purpose of this review is to evaluate the dysfunctions of the sexual sphere in patients with cervical cancer undergoing different cervix cancer treatments. Materials and Methods: We performed a comprehensive literature search using Pub med, Scopus and Cochrane to identify all the full articles evaluating the dysfunctions of the sexual sphere. ClinicalTrials.gov was searched for ongoing or recently completed trials, and PROSPERO was searched for ongoing or recently completed systematic reviews. Results: One thousand three hundred fifty-six women included in five studies published from 2016 to 2022 were analyzed. The median age was 50 years (range 46-56 years). The median follow-up was 12 months (range 0-60). Cervical cancer diagnosis and treatment (radiotherapy, chemotherapy and surgery) negatively affected sexual intercourse. Sexual symptoms such as fibrosis, strictures, decreased elasticity and depth and mucosal atrophy promote sexual dysfunction by causing frigidity, lack of lubrication, arousal, orgasm and libido and dyspareunia. Conclusions: Physical, physiological and social factors all contribute to the modification of the sexual sphere. Cervical cancer survivors who were irradiated have lower sexual and vaginal function than the normal population. Although there are cures for reducing discomfort, effective communication about sexual dysfunctions following treatment is essential.

Dose-Lowering in Contrast-Enhanced MRI of the Central Nervous System: A Retrospective, Parallel-Group Comparison Using Gadobenate Dimeglumine.

BACKGROUND: Concerns over gadolinium (Gd) retention encourage the use of lower Gd doses. However, lower Gd doses may compromise imaging performance. Higher relaxivity gadobenate may be suited to reduced dose protocols. PURPOSE: To compare 0.05 mmol/kg and 0.1 mmol/kg gadobenate in patients undergoing enhanced MRI of the central nervous system (CNS). STUDY TYPE: Retrospective, multicenter. POPULATION: Three hundred and fifty-two patients receiving 0.05 (n = 181) or 0.1 (n = 171) mmol/kg gadobenate. FIELD STRENGTH/SEQUENCES: 1.5 T and 3.0 T/precontrast and postcontrast T1-weighted spin echo/fast spin echo (SE/FSE) and/or gradient echo/fast field echo (GRE/FFE); precontrast T2-weighted FSE and T2-FLAIR. ASSESSMENT: Images of patients with extra-axial lesions at 1.5 T or any CNS lesion at 3.0 T were reviewed by three blinded, independent neuroradiologists for qualitative (lesion border delineation, internal morphology visualization, contrast enhancement; scores from 1 = poor to 4 = excellent) and quantitative (lesion-to-brain ratio [LBR], contrast-to-noise ratio [CNR]; SI measurements at regions-of-interest on lesion and normal parenchyma) enhancement measures. Noninferiority of 0.05 mmol/kg gadobenate was determined for each qualitative endpoint if the lower limit of the 95% confidence interval (CI) for the difference in precontrast + postcontrast means was above a noninferiority margin of -0.4. STATISTICAL TESTS: Student's t-test for comparison of mean qualitative endpoint scores, Wilcoxon signed rank test for comparison of LBR and CNR values; Wilcoxon rank sum test for comparison of SI changes. Tests were significant for P < 0.05. RESULTS: The mean change from precontrast to precontrast + postcontrast was significant for all endpoints. Readers 1, 2, and 3 evaluated 304, 225, and 249 lesions for 0.05 mmol/kg gadobenate, and 382, 309, and 298 lesions for 0.1 mmol/kg gadobenate. The lower limit of the 95% CI was above -0.4 for all comparisons. Significantly, higher LBR and CNR was observed with the higher dose. DATA CONCLUSION: 0.05 mmol/kg gadobenate was noninferior to 0.1 mmol/kg gadobenate for lesion visualization. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 3.

Postmortem CT and autopsy findings in nine victims of terrorist attack.

In a foreign country, a religious terrorist group raided a restaurant, using pipe bombs, sharp-edged weapons, and various types of firearms (handguns, submachine guns, and AK-47 assault rifles) loaded with normal and prohibited bullets to kill foreigner customers, some of whom were Italian tourists. Local pathologists performed forensic autopsies on the bodies, but we were asked to perform additional external examinations, postmortem computed tomography (PMCT) scans, and then a second round of complete autopsies on nine victims (5 females and 4 males). Four victims had slash wounds inflicted by sharp-edged weapons, mostly localized in the head and neck. All but two victims had gunshot wounds. Finally, three casualties had injuries caused by the explosion of improvised explosive devices. In all cases, PMCT was a reliable source of information and provided strategic guide during autopsies, helping identify and describe the injuries and thus reconstruct the events. Therefore, in these cases, we suggest integrating the autopsy findings with the postmortem radiological data.

Computer tomography-based quantitative analysis of the orbital proptosis severity in infants with syndromic craniosynostosis: case-control study.

PURPOSE: Evaluation of orbital proptosis and sutural synostosis pattern along the coronal ring in craniofaciosynostosis patients with or without fibroblastic growth factor receptor 2 (FGFR2) mutation. METHODS: High-resolution computer tomography was used to assess, in children with or without FGFR2 mutation, the early synostotic involvement of the "major" and "minor" sutures/synchondroses of the coronal arch along with the following orbital parameters: interorbital angle, bone orbital cavity volume, globe volume, ventral globe volume, ventral globe index. RESULTS: Infants with FGFR2 mutation showed an increased number of closed minor sutures/synchondroses along the posterior coronal branch while both groups showed a comparable synostotic involvement of the minor sutures of the anterior coronal branch. FGFR2 infants with posterior coronal branch synostotic involvement showed a higher degree of proptosis due to both reduced bony cavity volume and increased globe volume (p<0.05). CONCLUSIONS: Our data show that FGFR2 mutation together with posterior coronal branch synostotic involvement has a synergic effect in causing a more severe degree of orbital proptosis.

Safety and diagnostic efficacy of gadoteridol for magnetic resonance imaging of the brain and spine in children 2 years of age and younger.

BACKGROUND: Neonates and young children require efficacious magnetic resonance imaging (MRI) examinations but are potentially more susceptible to the short- and long-term adverse effects of gadolinium-based contrast agents due to the immaturity of their body functions. OBJECTIVE: To evaluate the acute safety and diagnostic efficacy of gadoteridol (ProHance) for contrast-enhanced MRI of the central nervous system (CNS) in children ≤2 years of age. MATERIALS AND METHODS: One hundred twenty-five children ≤2 years old (including 57 children <6 months old) who underwent contrast-enhanced MRI of the CNS with gadoteridol at 0.1 mmol/kg body weight were retrospectively enrolled at five imaging centers. Safety data were assessed for acute/subacute adverse events in the 48 h following gadoteridol administration and, when available, vital signs, electrocardiogram (ECG) and clinical laboratory values obtained from blood samples taken from 48 h before until 48 h following the MRI exam. The efficacy of gadoteridol-enhanced MRI compared to unenhanced MRI for disease diagnosis was evaluated prospectively by three blinded, unaffiliated readers. RESULTS: Thirteen changes of laboratory values (11 mild, 1 moderate, 1 unspecified) were reported as adverse events in 7 (5.6%) patients. A relationship to gadoteridol was deemed possible though doubtful for two of these adverse events in two patients (1.6%). There were no clinical adverse events, no serious adverse events and no clinically meaningful changes in vital signs or ECG recordings. Accurate differentiation of tumor from non-neoplastic disease, and exact matching of specific MRI-determined diagnoses with on-site final diagnoses, was achieved in significantly more patients by each reader following the evaluation of combined pre- and post-contrast images compared to pre-contrast images alone (84.6-88.0% vs. 70.9-76.9%; P≤0.006 and 67.5-79.5% vs. 47.0-66.7%; P≤0.011, respectively). CONCLUSION: Gadoteridol at 0.1 mmol/kg body weight is safe, well tolerated and effective for contrast-enhanced MRI of the CNS in children ≤2 years of age.

Systemic mastocytosis revisited with an emphasis on skeletal manifestations.

Systemic mastocytosis (SM) is a rare form of mastocytosis that can affect various organ systems. Bone involvement is the most common and prominent imaging feature in patients with SM regardless of the subtype. Furthermore, bone involvement is a prognostic factor as it may entail an aggressive course of the disease. Diagnosis is established by bone marrow biopsy complemented by imaging modalities such as radiography, CT, and magnetic resonance (MR) imaging. The radiographic and CT appearances are that of sclerotic, lytic, or mixed patterns with focal or diffuse distribution, involving primarily the axial skeleton and the ends of the long bones. Bone marrow infiltration is best recognized on MR imaging. Osteoporosis is common in SM; thus, a bone mineral density measurement at lumbar spine and proximal femur by dual-energy X-ray absorptiometry should be obtained. Imaging plays a huge part in the diagnostic process; when skeletal imaging findings are carefully interpreted and correlated with clinical features, they can lead to the suspicion of SM. The primary aims of this review article were to focus on the role of imaging in detection and characterization of skeletal patterns of SM and to discuss relevant clinical features that could facilitate prompt and correct diagnosis.

Combining Magnetic Resonance Imaging with Systemic Monocyte Evaluation for the Implementation of GBM Management.

Magnetic resonance imaging (MRI) is the gold standard for glioblastoma (GBM) patient evaluation. Additional non-invasive diagnostic modalities are needed. GBM is heavily infiltrated with tumor-associated macrophages (TAMs) that can be found in peripheral blood. FKBP51s supports alternative-macrophage polarization. Herein, we assessed FKBP51s expression in circulating monocytes from 14 GBM patients. The M2 monocyte phenotype was investigated by qPCR and flow cytometry using antibodies against PD-L1, CD163, FKBP51s, and CD14. MRI assessed morphologic features of the tumors that were aligned to flow cytometry data. PD-L1 expression on circulating monocytes correlated with MRI tumor necrosis score. A wider expansion in circulating CD163/monocytes was measured. These monocytes resulted in a dramatic decrease in patients with an MRI diagnosis of complete but not partial surgical removal of the tumor. Importantly, in patients with residual tumor, most of the peripheral monocytes that in the preoperative stage were CD163/FKBP51s- had turned into CD163/FKBP51s+. After Stupp therapy, CD163/FKBP51s+ monocytes were almost absent in a case of pseudoprogression, while two patients with stable or true disease progression showed sustained levels in such circulating monocytes. Our work provides preliminary but meaningful and novel results that deserve to be confirmed in a larger patient cohort, in support of potential usefulness in GBM monitoring of CD163/FKBP51s/CD14 immunophenotype in adjunct to MRI.

Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy.

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5-16 years), and 17 non ambulant (age range 10-30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.