High-frequency transcranial alternating current stimulation matching individual frequency of somatosensory evoked high-frequency oscillations can modulate the somatosensory system through thalamocortical pathway.

tACS (transcranial alternating current stimulation) is a technique for modulating brain activity through electrical current. Its effects depend on cortical entrainment, which is most effective when transcranial alternating current stimulation matches the brain's natural rhythm. High-frequency oscillations produced by external stimuli are useful for studying the somatosensory pathway. Our study aims to explore transcranial alternating current stimulation's impact on the somatosensory system when synchronized with individual high-frequency oscillation frequencies. We conducted a randomized, sham-controlled study with 14 healthy participants. The study had three phases: Individualized transcranial alternating current stimulation (matching the individual's high-frequency oscillation rhythm), Standard transcranial alternating current stimulation (600 Hz), and sham stimulation. We measured early and late HFO components after median nerve electrical stimulation at three time points: before (T0), immediately after (T1), and 10 min after transcranial alternating current stimulation (T2). Compared to Sham and Standard stimulation Individualized transcranial alternating current stimulation significantly enhanced high-frequency oscillations, especially the early component, immediately after stimulation and for at least 15 min. No other effects were observed for other high-frequency oscillation measures. In summary, our study provides initial evidence that transcranial alternating current stimulation synchronized with an individual's high-frequency oscillation frequency can precisely and time-specifically modulate thalamocortical activity. These insights may pave the way for innovative, personalized neuromodulation methods for the somatosensory system.

A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.

BACKGROUND: Facial palsy manifests as unilateral or bilateral weakness and inability to move some of the facial muscles. The aetiology may be different including idiopathic, trauma, infections or brain tumours or it can be associated with chronic neurological diseases. For instance, in recurrent migraine, an increased risk of idiopathic facial palsy (often unilateral) has been observed. Migraine is a neurovascular disorder characterized by mild to severe intensity of headaches, often associated with neuro-ophthalmological symptoms. METHODS: A family is reported where five members were affected by facial palsy associated with other clinical features including migraine, diplopia, facial swelling, eye conjunctivitis following a vertical transmission. Whole exome sequencing was performed in three members (two affected and one healthy) in order to identify potential variants causative of their phenotype. RESULTS: A missense variant c.304G>A was found leading to the p.(Ala102Thr) substitution in the TRPM8 gene, previously related to migraine by genome wide association studies. This variant was classified as deleterious by several predictor tools, and the mutant residue was predicted to alter the protein structure in terms of flexibility and interactions with the surrounding residues. CONCLUSION: These findings suggest that TRPM8 could be a new causative gene further linking migraine and recurrent facial palsy.

Unusual CLIPPERS presentation with a predominant spinal cord involvement: case report and review of the literature.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a discrete nosological entity characterized by punctate and curvilinear gadolinium enhancement "peppering" the pons and a strong response to steroids. MRI images typically show pontine and cerebellar punctate-enhancing lesions, which occasionally spread up to the juxtacortical areas and down to the spinal cord. Interestingly, the more distant the lesion is from the pons, the less intense they become. Herein, we describe an extremely rare case of CLIPPERS presenting with predominant spinal cord involvement; then, we searched in the literature the available cases with a similar presentation. Our case focuses attention on a rare MRI CLIPPERS presentation. Since CLIPPERS has a dramatic response to corticosteroid treatment, it is fundamental to promptly recognize its MRI pattern to start treatment as soon as possible.

Computed tomography quantitative analysis of cranial vault dysmorphology and severity of facial complex changes in posterior synostotic plagiocephaly patients.

BACKGROUND: Posterior synostotic plagiocephaly (PSP) impacts craniofacial skeleton. Study quantifies facial changes in children with PSP to investigate the impact of age and PSP severity at diagnosis on the facial dysmorphology. MATERIAL AND METHODS: High-resolution preoperative CT images of 22 infants with PSP were analyzed. They were divided according to the early or late age at time of diagnosis. Each group was further subdivided according to the severity of PSP evaluated by the cranial vault asymmetry index (CVAI): mild-moderate PSP (CVAI between 3 and 12%) and severe PSP (CVAI > 12%). Analysis of the facial complex was performed. Each group was compared with age-matched healthy subjects. RESULTS: All children exhibited unilateral lambdoid suture synostosis. The "early" diagnosis group consisted of 7 children with mild-moderate PSP while the "late" diagnosis group of 15 children in which 6 children had mild-moderate and 9 children severe PSP. All children showed altered position of glenoid fossae and mandibular asymmetry characterized by reduced mandibular diagonal distance length on the affected side while the subgroup of children with severe PSP detected in "late" diagnosis group had also altered mandibular inclination and reduced midfacial depth on both sides. CONCLUSIONS: PSP causes cranial base dysmorphology which drives changes in facial complex growth; the severity of facial changes mainly depends on the severity of cranial vault dysmorphology detected by CVAI. Mandible reshapes early under the stress of altered biomechanical forces of the skull base while changes in the maxilla are secondary to the asymmetric growth of the mandible and occur only in severe cases.

Pediatric craniopharyngiomas: magnetic resonance imaging assessment for hypothalamus-pituitary axis dysfunction and outcome prediction.

BACKGROUND: In adamantinomatous craniopharyngiomas, tumor topographical categories, cystic component volume, and magnetic resonance signal intensity may impact prognosis. OBJECTIVE: To identify magnetic resonance imaging (MRI) variables associated with pituitary-hypothalamic axis dysfunction and predictive of outcome in children with cystic adamantinomatous craniopharyngiomas. MATERIALS AND METHODS: We evaluated 40 preoperative MRIs of adamantinomatous craniopharyngiomas to classify tumor topography, volume, and signal intensity of the cystic components and peritumoral edema. Volumes and normalized signal intensity minimum values were extracted from coronal T2-weighted images (nT2min). Radiological variables were compared to pituitary-hypothalamic axis dysfunction-related clinical data and surgical outcomes. RESULTS: Adamantinomatous craniopharyngiomas were categorized into five topographic classes (12 patients, sellar-suprasellar; seven patients, pseudo-intraventricular; six patients, strict intraventricular; 14 patients, secondary intraventricular; one patient, not strict intraventricular). All cases exhibited a predominant (30 patients, 80%) or total (10 patients, 20%) cystic tumor component and displayed low nT2min percentage values compared to cerebrospinal fluid (42.3% [interquartile range 28.4-54.6%]). Significant associations between tumor topographic classes and pituitary dysfunction (P<0.001), and between peritumoral edema and hypothalamic dysfunction (P<0.001) were found. Considering extent of surgical removal and tumor relapse, volume of the cystic tumor component displayed a positive correlation (P=0.002; r=0.48; P=0.02; r=0.36), while nT2min intensity values exhibited a negative correlation (P=0.01; r= - 0.40; P=0.028; r= - 0.34). CONCLUSION: Severe hypothalamic-pituitary axis dysfunction is associated with tumors along the pituitary stalk and peritumoral edema. Tumor invasion of the third ventricle, tight adherence to the hypothalamus, larger volumes, and lower nT2min intensity of the tumor cystic component are independent predictors of extent of adamantinomatous craniopharyngioma excision and recurrence.

Exploring vertebral artery stump syndrome: An overlooked cause of posterior ischemic strokes. A narrative review of current management options.

INTRODUCTION: Stump syndrome is defined as a clinical syndrome resulting from a distal intracranial vessel embolic stroke due to an extracranial vessel occlusion. Similar to the anterior circulation, the recurrence of ischemic strokes in territories supplied by the posterior circulation in the presence of vertebral artery occlusion is termed Vertebral Artery Stump Syndrome (VASS). MATERIAL AND METHODS: We conducted a literature review, identifying 72 patients with transient ischemic attacks (TIAs) or ischemic strokes attributed to VASS, according to Kawano criteria. We categorized all patients in two groups focusing on the therapeutic management those who underwent primary medical treatment and those who received endovascular or surgical treatment either in acute or chronic phase. RESULTS: In the anticoagulant therapy group, only 1 patient had a stroke recurrence. Among the 4 on antiplatelets, all had recurrences, but 3 benefited from switching to anticoagulants or endovascular therapy. In the endovascular therapy group, worse outcomes were linked to acute large vessel occlusion. Endovascular treatment of the vertebral artery, in a chronic phase, was explored in literature for recurrent TIAs or minor strokes suggesting that this could be a viable therapeutic alternative when medical treatment failed in preventing recurrence of ischemic stroke. CONCLUSIONS: Some studies suggest that anticoagulant medical therapy may be beneficial for VASS and endovascular therapy has also been reported for selected patients. However, data on treatment outcomes and prognosis are still underreported, making treatment decisions challenging. Randomized Controlled Trials are needed to establish the optimal treatment approach.

Association of Blood Metabolomics Biomarkers with Brain Metabolites and Patient-Reported Outcomes as a New Approach in Individualized Diagnosis of Schizophrenia.

Given its polygenic nature, there is a need for a personalized approach to schizophrenia. The aim of the study was to select laboratory biomarkers from blood, brain imaging, and clinical assessment, with an emphasis on patients' self-report questionnaires. Metabolomics studies of serum samples from 51 patients and 45 healthy volunteers, based on the liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS/MS), led to the identification of 3 biochemical indicators (cortisol, glutamate, lactate) of schizophrenia. These metabolites were sequentially correlated with laboratory tests results, imaging results, and clinical assessment outcomes, including patient self-report outcomes. The hierarchical cluster analysis on the principal components (HCPC) was performed to identify the most homogeneous clinical groups. Significant correlations were noted between blood lactates and 11 clinical and 10 neuroimaging parameters. The increase in lactate and cortisol were significantly associated with a decrease in immunological parameters, especially with the level of reactive lymphocytes. The strongest correlations with the level of blood lactate and cortisol were demonstrated by brain glutamate, N-acetylaspartate and the concentrations of glutamate and glutamine, creatine and phosphocreatine in the prefrontal cortex. Metabolomics studies and the search for associations with brain parameters and self-reported outcomes may provide new diagnostic evidence to specific schizophrenia phenotypes.

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.

MRI and Trouillas' grading system of pituitary tumors: the usefulness of T2 signal intensity volumetric values.

PURPOSE: To classify pituitary macroadenomas according to the Trouillas' grading system; to compare this grading system with T2 values of volumetric signal intensity to determine T2 values able to predict the final grade. METHODS: A total of 106 patients with macroadenomas were grouped according to the grading system score combining proliferation and invasiveness criteria of Trouillas' classification. Normalized volumetric signal intensity values were extracted from coronal T2-weighted images (nT2mean, nT2Max, nT2min) and were compared with the final grading score system. RESULTS: Thirty-three patients were in grade 1a (non-invasive, non-proliferative tumors), 17 patients in grade 1b (non-invasive, proliferative tumors), 36 patients in grade 2a (invasive, non-proliferative tumors), and 20 patients in grade 2b (invasive, proliferative tumors). No patient was in grade 3 (metastatic tumors). nT2Max and nT2min were the best quantitative values to discriminate invasive from non-invasive grades; in invasive grades, nT2Max intensity values were higher, and nT2min intensity values were lower than in non-invasive grades. Receiver operating characteristic analysis of nT2 values showed that nT2min values had a better diagnostic performance than nT2Max values because they allowed differentiating with a moderate accuracy invasive tumors (2a or 2b grades) from both non-invasive proliferative tumors (1b) and non-invasive-non proliferative tumors (1a) (2a vs 1b: AUCnT2min = 0.78, 2b vs 1b: AUCnT2min = 0.72, 2a vs 1a: AUCnT2min = 0.72, 2b vs 1a AUCnT2min = 0.69). CONCLUSION: Volumetric nT2Max and nT2min values of MRI might be practical and non-invasive markers for assessing tumor invasiveness although nT2 min signal intensity values have more effects in discriminating tumor's invasive behavior.

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.

A true isolated cognitive relapse in multiple sclerosis.

Isolated cognitive relapses (ICRs) have been a matter of debate for the past few years. Currently, there is no clear consensus on such an entity, as cognitive decline usually accompanies typical multiple sclerosis (MS) relapses. Herein, we present the neuropsychological and neurophysiological manifestations of a patient who suddenly complained of confusion and memory loss, showing insight into her deficit, in absence of sensorimotor disturbances. Neuroimaging revealed a large tumefactive gadolinium-enhancing lesion localized in the left medial temporal lobe. The patient's symptoms persisted for months afterwards, despite corticosteroid treatment. We believe our patient experienced a true ICR. ICRs are rare entities in MS, but we should be alert to their existence in order to treat them promptly. Deepening their pathophysiology is equally important and neuropsychology combined with neurophysiology may be useful in this regard.

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.

Integration of proprioception in upper limb prostheses through non-invasive strategies: a review.

Proprioception plays a key role in moving our body dexterously and effortlessly. Nevertheless, the majority of investigations evaluating the benefits of providing supplemental feedback to prosthetics users focus on delivering touch restitution. These studies evaluate the influence of touch sensation in an attempt to improve the controllability of current robotic devices. Contrarily, investigations evaluating the capabilities of proprioceptive supplemental feedback have yet to be comprehensively analyzed to the same extent, marking a major gap in knowledge within the current research climate. The non-invasive strategies employed so far to restitute proprioception are reviewed in this work. In the absence of a clearly superior strategy, approaches employing vibrotactile, electrotactile and skin-stretch stimulation achieved better and more consistent results, considering both kinesthetic and grip force information, compared with other strategies or any incidental feedback. Although emulating the richness of the physiological sensory return through artificial feedback is the primary hurdle, measuring its effects to eventually support the integration of cumbersome and energy intensive hardware into commercial prosthetic devices could represent an even greater challenge. Thus, we analyze the strengths and limitations of previous studies and discuss the possible benefits of coupling objective measures, like neurophysiological parameters, as well as measures of prosthesis embodiment and cognitive load with behavioral measures of performance. Such insights aim to provide additional and collateral outcomes to be considered in the experimental design of future investigations of proprioception restitution that could, in the end, allow researchers to gain a more detailed understanding of possibly similar behavioral results and, thus, support one strategy over another.

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.