Pathogenic variants in the
gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral ...abnormalities in patients with
pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development.
We performed a retrospective, multicentric review of patients with proved
pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical
arterial phenotype as well as demographic and relevant clinical data was obtained.
We included 13 patients with
pathogenic variants (Arg179His mutation,
= 11, and Arg179Cys mutation,
= 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in
pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype.
Dysgyria is common in patients with
pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical
arterial phenotype.
In the hierarchical model of structure formation, giant elliptical galaxies form through merging processes within the highest density peaks known as protoclusters. While high-redshift radio galaxies ...usually pinpoint the location of these environments, we have recently discovered at z ∼ 2−3 three enormous (> 200 kpc) Lyman-α nebulae (ELANe) that host multiple active galactic nuclei (AGN) and that are surrounded by overdensities of Lyman-α emitters (LAE). These regions are prime candidates for massive protoclusters in the early stages of assembly. To characterize the star-forming activity within these rare structures – both on ELAN and protocluster scales – we have initiated an observational campaign with the James Clerk Maxwell Telescope (JCMT) and the Atacama Pathfinder EXperiment (APEX) telescopes. In this paper we report on sensitive SCUBA-2/JCMT 850 and 450 μm observations of a ∼128 arcmin2 field comprising the ELAN MAMMOTH-1, together with the peak of the hosting BOSS1441 LAE overdensity at z = 2.32. These observations unveil 4.0 ± 1.3 times higher source counts at 850 μm with respect to blank fields, likely confirming the presence of an overdensity also in obscured tracers. We find a strong detection at 850 μm associated with the continuum source embedded within the ELAN MAMMOTH-1, which – together with the available data from the literature – allow us to constrain the spectral energy distribution of this source to be of an ultra-luminous infrared galaxy (ULIRG) with a far-infrared luminosity of LFIRSF = 2.4−2.1+7.4×1012 L⊙ L FIR SF = 2 . 4 − 2.1 + 7.4 × 10 12 L ⊙ $ L_{\mathrm{FIR}}^{\mathrm{SF}}=2.4^{+7.4}_{-2.1}\times10^{12}\,L_{\odot} $ , and hosting an obscured AGN. Such a source is thus able to power a hard photoionization plus outflow scenario to explain the extended Lyman-α, He IIλ1640, and C IVλ1549 emission, and their kinematics. In addition, the two brightest detections at 850 μm (f850 > 18 mJy) sit at the density peak of the LAEs’ overdensity, likely pinpointing the core of the protocluster. Future multiwavelength and spectroscopic datasets targeting the full extent of the BOSS1441 overdensity have the potential to firmly characterize a cosmic nursery of giant elliptical galaxies, and ultimately of a massive cluster.
Different and specific MR imaging patterns of lesions involving WM are widely defined in neonatal encephalopathy. The aim of this study was to describe a novel MR imaging pattern of damage ...characterized by the abnormal prominence of DMVs in premature and full-term neonates.
Twenty-one (11 premature and 10 full-term) neonates with MR imaging evidence of linear radially oriented fan-shaped lesions in the periventricular WM and without dural venous thrombosis were enrolled in this retrospective study. A total of 37 MR imaging examinations were performed at ages ranging from day 0 to 24 months.
According to the appearance of linear anomalies on T2-weighted images, we identified 2 main patterns: T2 hypointense lesions without WM cavitations and T2 hypointense lesions associated with linear cysts. The first pattern was found in 17 examinations performed between 0 and 44 days of life; the second pattern was found in another 14 examinations performed between 6 days and 4 months of life. Five examinations performed between 9 and 24 months of life showed a reduction in volume and hyperintense signal intensity of the periventricular WM on T2-weighted and FLAIR images.
Subtle linear WM lesions with the same anatomic distribution of DMVs may be evident in premature and full-term neonates without signs of major venous thrombosis, both in the acute and subacute phases. Their appearance and evolution suggest that transient DMV engorgement/thrombosis may be responsible for WM damage that can lead to a PVL-like pattern.
In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra- and infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with ...Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the
gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature.
Context.
Contrary to expectations from scenarios of black hole growth driven by galaxy interactions and mergers, dual active galactic nuclei (AGN) with kiloparsec separations are rarely observed and ...are very difficult to identify, in particular at high redshifts (i.e.
z
> 2).
Aims.
Focussing on the recently discovered dual AGN system LBQS 0302−0019 at
z
= 3.29, we seek to identify further group members in its environment and to understand their formation history through deep high-angular-resolution imaging.
Methods.
We present deep
Hubble
Space Telescope (HST) Wide-field Camera 3 near-infrared imaging of LBQS 0302−0019. In combination with ground-based VLT/HAWK-I imaging, we infer accurate sizes, colours, ages, and stellar masses of companion galaxies.
Results.
We clearly detect four companion objects close to LBQS 0302−0019 that also have faint signatures in the ground-based images. We constrain light-weighted ages and masses for the two most prominent companions, Jil1 and Jil2, to
t
⋆
= 252
−109
+222
Myr with log(
M
⋆
/
M
⊙
) = 11.2
−0.1
+0.3
and
t
⋆
= 19
−14
+74
Myr with log(
M
⋆
/
M
⊙
) = 9.4
−0.4
+0.9
, respectively. The HST data also show that the obscured AGN, previously identified by strong nebular He
II
emission, is associated with the young massive companion Jil2. Because very massive stars of the starburst cannot be solely responsible for the He
II
emission, we strengthen our initial conclusion that Jil2 has been hosting an AGN.
Conclusions.
If the young starburst of Jil2 had been accompanied by sustained black hole growth, Jil2 may have contributed He
II
-ionising flux to create the large He
II
Ly
α
proximity zone around LBQS 0302−0019. Hence, the duration of the current luminous AGN episode of LBQS 0302−0019 may have been overestimated.
Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme ...heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC = 85%, FPR = 96%), sensitivity (WACC = 83%, FPR = 63%) and accuracy (WACC = 85%, FPR = 90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.
The purpose of this review is to present the latest innovations and current topics in musculoskeletal diagnosis and interventional imaging, with a focus on degenerative and inflammatory diseases.
In ...this study, the search was conducted through the online databases PubMed and Google Scholar, including articles published in English in the past 15 years, in order to find existing studies, clinical cases, and reviews on the latest innovations and current topics in degenerative and inflammatory musculoskeletal pathologies.
Imaging plays a pivotal role in the diagnosis and treatment of MSK degenerative and inflammatory disease. In the last few years continuous innovations and technological advances have allowed new clinical applications in the management of MSK disorder. Advanced magnetic resonance techniques, the introduction of fusion imaging techniques and new approaches to infiltrative medicine are revolutionizing the clinical and therapeutic approach to degenerative and inflammatory pathologies. Artificial intelligence also increasingly seeks to be applied in all fields of medicine and radiology with increasingly promising results.
Imaging modalities undergo continuous innovations and revolutions due to technological advances, with direct repercussions on clinical applications and new therapeutic potential through interventional radiology techniques. In recent years, there have been particular innovations in the context of musculoskeletal imaging of degenerative and inflammatory diseases, both for diagnosis and intervention.
Background: To evaluate the potential benefits of the Magnetic Resonance-guided high intensity Focused Ultrasound (MRgFUS) introduction in the clinical practice, for the treatment of uterine ...fibroids, in comparison with the standard "conservative" procedures, devoted to women who wish to preserve their uterus or enhance fertility: myomectomy and uterine artery embolization (UAE). Methods: A Health Technology Assessment was conducted, assuming the payer's perspective (Italian National Healthcare Service). The nine EUnetHTA Core Model dimensions were deeply investigated, by means of i) a literature review; ii) the implementation of health economics tools (useful for uterine fibroids patients' clinical pathway economic evaluation, and budget impact analysis), to define MRgFUS economic and organizational sustainability, and iii) administration of specific questionnaires filled by uterine fibroids' experts, to gather their perceptions on the three possible conservative approaches (MRgFUS, UAE and myomectomy). Results: Literature revealed that MRgFUS would generate several benefits, from a safety and an efficacy profile, with significant improvement in symptoms relief. Advantages emerged concerning the patients' perspective, thus leading to a decrease both in the length of hospital stay (p-value< 0.001), and in patients' productivity loss (p-value = 0.024). From an economic point of view, the Italian NHS would present an economic saving of - 6.42%. A positive organizational and equity impact emerged regarding the capability to treat a larger number of women, thus performing, on average, 131.852 additional DRGs. Conclusions: Results suggest that MRgFUS could be considered an advantageous technological alternative to adopt within the target population affected by uterine fibroids, demonstrating its economic and organisational feasibility and sustainability, with consequent social benefits.
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