This letter describes a cohort of 100 children younger than 18 years of age with RT-PCR–confirmed Covid-19 who were assessed in 17 pediatric emergency departments in Italy. The descriptive results ...are compared with previously published results involving children in China and the United States.
Basal progenitors (BPs), including intermediate progenitors and basal radial glia, are generated from apical radial glia and are enriched in gyrencephalic species like humans, contributing to ...neuronal expansion. Shortly after generation, BPs delaminate towards the subventricular zone, where they further proliferate before differentiation. Gene expression alterations involved in BP delamination and function in humans are poorly understood. Here, we study the role of LGALS3BP, so far known as a cancer biomarker, which is a secreted protein enriched in human neural progenitors (NPCs). We show that individuals with LGALS3BP de novo variants exhibit altered local gyrification, sulcal depth, surface area and thickness in their cortex. Additionally, using cerebral organoids, human fetal tissues and mice, we show that LGALS3BP regulates the position of NPCs. Single-cell RNA-sequencing and proteomics reveal that LGALS3BP-mediated mechanisms involve the extracellular matrix in NPCs' anchoring and migration within the human brain. We propose that its temporal expression influences NPCs' delamination, corticogenesis and gyrification extrinsically.
Detailed data on clinical presentations and outcomes of children with COVID-19 in Europe are still lacking. In this descriptive study, we report on 130 children with confirmed COVID-19 diagnosed by ...28 centers (mostly hospitals), in 10 regions in Italy, during the first months of the pandemic. Among these, 67 (51.5%) had a relative with COVID-19 while 34 (26.2%) had comorbidities, with the most frequent being respiratory, cardiac, or neuromuscular chronic diseases. Overall, 98 (75.4%) had an asymptomatic or mild disease, 11 (8.5%) had moderate disease, 11 (8.5%) had a severe disease, and 9 (6.9%) had a critical presentation with infants below 6 months having significantly increased risk of critical disease severity (OR 5.6, 95% CI 1.3 to 29.1). Seventy-five (57.7%) children were hospitalized, 15 (11.5%) needed some respiratory support, and nine (6.9%) were treated in an intensive care unit. All recovered.
Conclusion
:This descriptive case series of children with COVID-19, mostly encompassing of cases enrolled at hospital level, suggest that COVID-19 may have a non-negligible rate of severe presentations in selected pediatric populations with a relatively high rates of comorbidities. More studies are needed to further understand the presentation and outcomes of children with COVID-19 in children with special needs.
What is Known:
• There is limited evidence on the clinical presentation and outcomes of children with COVID-19 in Europe, and almost no evidence on characteristics and risk factors of severe cases.
What is New:
•
Among a case series of 130 children, mostly diagnosed at hospital level, and with a relatively high rate (26.2%) of comorbidities, about three-quarter had an asymptomatic or mild disease.
• However, 57.7% were hospitalized, 11.5% needed some respiratory support, and 6.9% were treated in an intensive care unit.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Although severely affected by the angle dependency, carotid artery peak systolic velocity measurements are widely used for assessment of stenosis. In this study, blood peak systolic velocities in the ...common and internal carotid arteries of both healthy volunteers and patients with internal carotid artery stenosis were measured by two vector Doppler (VD) methods and compared with measurements obtained with the conventional spectral Doppler approach. Although the two VD techniques were completely different (using the transmission of focused beams and plane waves, respectively), the measurement results indicate that these techniques are nearly equivalent. The peak systolic velocities measured in 22 healthy common carotid arteries by the two VD techniques were very close (according to Bland-Altman analysis, the average difference was 3.2%, with limits of agreement of ± 8.6%). Application of Bland-Altman analysis to comparison of either VD technique with the spectral Doppler method provided a 21%-25% average difference with ± 13%-15% limits of agreement. Analysis of the results obtained from 15 internal carotid arteries led to similar conclusions, indicating significant overestimation of peak systolic velocity with the spectral Doppler method. Inter- and intra-operator repeatability measurements performed in a group of 8 healthy volunteers provided equivalent results for all of the methods (coefficients of variability in the range 2.7%-6.9%), even though the sonographers were not familiar with the VD methods. The results of this study suggest that the introduction of vector Doppler methods in commercial machines may finally be considered mature and capable of overcoming the angle-dependent overestimation typical of the standard spectral Doppler approach.
Conventional ultrasound Doppler techniques estimate the blood velocity exclusively in the axial direction to produce the sonograms and color flow maps needed for diagnosis of cardiovascular diseases. ...In this paper, a novel method to produce bi-dimensional maps of 2-D velocity vectors is proposed. The region of interest (ROI) is illuminated by plane waves transmitted at the pulse repetition frequency (PRF) in a fixed direction. For each transmitted plane wave, the backscattered echoes are recombined offline to produce the radio-frequency image of the ROI. The local 2-D phase shifts between consecutive speckle images are efficiently estimated in the frequency domain, to produce vector maps up to 15 kHz PRF. Simulations and in vitro steady-flow experiments with different setup conditions have been conducted to thoroughly evaluate the method's performance. Bias is proved to be lower than 10% in most simulations and lower than 20% in experiments. Further simulations and in vivo experiments have been made to test the approach's feasibility in pulsatile flow conditions. It has been estimated that the computation of the frequency domain algorithm is more than 50 times faster than the computation of the reference 2-D cross-correlation algorithm.
Mapping brain functions is crucial for neurosurgical planning in patients with drug-resistant seizures. However, presurgical language mapping using either functional or structural networks can be ...challenging, especially in children. In fact, most of the evidence on this topic derives from cross-sectional or retrospective studies in adults submitted to anterior temporal lobectomy. In this prospective study, we used fMRI and DTI to explore patterns of language representation, their predictors and impact on cognitive performances in 29 children and young adults (mean age at surgery: 14.6 ± 4.5 years) with focal lesional epilepsy. In 20 of them, we also assessed the influence of epilepsy surgery on language lateralization. All patients were consecutively enrolled at a single epilepsy surgery center between 2009 and 2015 and assessed with preoperative structural and functional 3T brain MRI during three language tasks: Word Generation (WG), Rhyme Generation (RG) and a comprehension task. We also acquired DTI data on arcuate fasciculus in 24 patients. We first assessed patterns of language representation (relationship of activations with the epileptogenic lesion and Laterality Index (LI)) and then hypothesized a causal model to test whether selected clinical variables would influence the patterns of language representation and the ensuing impact of the latter on cognitive performances. Twenty out of 29 patients also underwent postoperative language fMRI. We analyzed possible changes of fMRI and DTI LIs and their clinical predictors. Preoperatively, we found atypical language lateralization in four patients during WG task, in one patient during RG task and in seven patients during the comprehension task. Diffuse interictal EEG abnormalities predicted a more atypical language representation on fMRI (p = 0.012), which in turn correlated with lower attention (p = 0.036) and IQ/GDQ scores (p = 0.014). Postoperative language reorganization implied shifting towards atypical language representation. Abnormal postoperative EEG (p = 0.003) and surgical failures (p = 0.015) were associated with more atypical language lateralization, in turn correlating with worsened fluency. Neither preoperative asymmetry nor postoperative DTI LI changes in the arcuate fasciculus were observed. Focal lesional epilepsy associated with diffuse EEG abnormalities may favor atypical language lateralization and worse cognitive performances, which are potentially reversible after successful surgery.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Protocadherin-19 (PCDH19) developmental and epileptic encephalopathy causes an early-onset epilepsy syndrome with limbic seizures, typically occurring in clusters and variably associated with ...intellectual disability and a range of psychiatric disorders including hyperactive, obsessive-compulsive and autistic features. Previous quantitative neuroimaging studies revealed abnormal cortical areas in the limbic formation (parahippocampal and fusiform gyri) and underlying white-matter fibers. In this study, we adopted morphometric, network-based and multivariate statistical methods to examine the cortex and substructure of the hippocampus and amygdala in a cohort of 20 PCDH19-mutated patients and evaluated the relation between structural patterns and clinical variables at individual level. We also correlated morphometric alterations with known patterns of PCDH19 expression levels. We found patients to exhibit high-significant reductions of cortical surface area at a whole-brain level (left/right p
= 0.045/0.084), and particularly in the regions of the limbic network (left/right parahippocampal gyri p
= 0.230/0.016; left/right entorhinal gyri p
= 0.002/0.327), and bilateral atrophy of several subunits of the amygdala and hippocampus, particularly in the CA regions (head of the left CA3 p
= 0.002; body of the right CA3 p
= 0.004), and differences in the shape of hippocampal structures. More severe psychiatric comorbidities correlated with more significant altered patterns, with the entorhinal gyrus (p
= 0.013) and body of hippocampus (p
= 0.048) being more severely affected. Morphometric alterations correlated significantly with the known expression patterns of PCDH19 (r
= -0.26, p
= 0.092). PCDH19 encephalopathy represents a model of genetically determined neural network based neuropsychiatric disease in which quantitative MRI-based findings correlate with the severity of clinical manifestations and had have a potential predictive value if analyzed early.
Alveolar soft part sarcomas (ASPSs) are rare malignant tumors representing ∼1% of all soft tissue sarcomas. Most ASPS occurring in the central nervous system are metastases. In contrast, primary ...intracranial ASPSs are extremely rare and only 8 cases have been previously reported in English literature. Here, we report a case of primary alveolar soft part sarcoma in a 16-year-old female patient with no evidence of primary extracranial tumors. Histologically this case fulfilled the criteria of ASPS, and a molecular confirmation has been archived. To date, only 9 primary intracranial ASPS cases, including ours, have been reported in the literature. This report highlights the clinical and pathological characteristics, differential diagnosis, and molecular analysis of primary ASPS of the central nervous system.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
The COVID-19 outbreak has dramatically changed the organization of Pediatric Neurosurgery all over the world. The departments involved developed similar plans to maintain emergency surgeries without ...reducing clinical activities. The Association of Pediatric Neurosurgeons wrote different memoranda to detail the surgical procedures not to be postponed with special attention given to high-risk pathology for COVID-19 contamination, like trans-naso-sphenoidal surgery. On this basis, we have conducted a complete literature review focusing on many topics: hospital organization, patients and parents screening, surgical indication criteria, outpatient clinic and teleconsultation, telematic conference and meeting, fellowship and training, and virtual multidisciplinary meeting.
Chiari I malformation is characterized by the herniation of cerebellar tonsils below the foramen magnum. It is often accompanied by syringomyelia and neurosurgical management is still controversial. ...In fact, it is frequent that some symptomatic patients initially undergo bony decompression of the posterior fossa and need in a short time more invasive surgery with higher morbility (e.g., decompression of posterior fossa with dural plastic, with or without tonsillar coarctation) because of unsatisfactory results at MRI controls. This study proposes a machine learning approach (based on SVM classifier), applied to different morphometric indices estimated from sagittal MRI and some information on the patient (i.e., age and symptoms at diagnosis), to recognize patients with higher risk of syringomyelia and clinical deterioration. Our database includes 58 pediatric patients who underwent surgery treatment. A negative outcome at 1 year from the intervention was observed in 38% of them (accuracy of 62%). Our algorithm allows us to increase the accuracy to about 71%, showing it to be a valid support to neurosurgeons in refining the clinical picture.
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