Aneurysms of the intracranial segment of the ophthalmic artery trunk. case report and systematic literature review

Aneurysms arising from the ophthalmic artery trunk (OAT) are very rare, particularly in the artery's intracranial course. The onset of a subarachnoid hemorrhage (SAH) from a ruptured OAT aneurysm in this segment is extremely rare. We present a case and discuss the anatomy, clinical significance, and therapeutic options for an aneurysm at this site. We also retrospectively analyzed the record of a patient with a ruptured aneurysm of the intracranial segment of the OAT and conducted a comprehensive and systematic review of the PubMed and Scopus databases for literature on this pathology. Only one case report of SAH from an aneurysm of the intracranial segment of the OAT was published in the literature. Only in our case was the intracranial OAT segment aneurysm discovered in the acute phase of SAH. Conventional angiography with three-dimensional acquisition may help detect aneurysms at this level. Detailed knowledge of the anatomy of the OAT is of paramount importance for both surgical and endovascular approaches. Surgical treatment is complex because of difficulties in accessing the orbital region and the risk of optic nerve and vascular injuries. Endovascular treatment, when feasible, could be a good alternative to reduce the risk of loss of vision related to surgical manipulation

Impaired Conscious Recognition of Negative Facial Expressions in Patients with Locked-in Syndrome

The involvement of facial mimicry in different aspects of human emotional processing is widely debated. However, little is known about relationships between voluntary activation of facial musculature and conscious recognition of facial expressions. To address this issue, we assessed severely motor-disabled patients with complete paralysis of voluntary facial movements due to lesions of the ventral pons [locked-in syndrome (LIS)]. Patients were required to recognize others’ facial expressions and to rate their own emotional responses to presentation of affective scenes.LISpatientswere selectivelyimpairedin recognition of negativefacial expressions,thusdemonstratingthatthe voluntary activation of mimicry represents a high-level simulation mechanism crucially involved in explicit attribution of emotions

Spontaneous activity in developing sensory circuits: Implications for resting state fMRI

The immature brain spontaneously expresses unique patterns of electrical activity that are believed to contribute to the development of neuronal networks. Certain electrographic features of this activity, particularly modulation on an infraslow time scale, resemble activity patterns observed in the mature brain at 'rest', loosely defined as the absence of an investigator imposed task. However, it is not clear whether the immature activity patterns observed at rest are precursors of the spontaneous neuronal activity that forms resting state networks in the adult. Here, we review recent studies that have explored the generative mechanisms of resting state activity during development in the primary sensory systems of premature human neonates and neonatal rodents. The remarkable hypothesis suggested by this work is that while resting state activity during the pre- and possibly near-term period can bear superficial resemblance to adult activity it is fundamentally different in terms of function and origin. During early development spontaneous thalamocortical activity in primary sensory regions is determined largely by transitory generators in the sensory periphery. This is in contrast to the adult, where spontaneous activity generated within thalamocortex, particularly by cortico-cortical connections, dominates. We therefore suggest a conservative interpretation of developmental mapping studies which are based on indirect measurement of activity (e.g. fMRI), or on the partitioning of EEG frequency using bands derived from adult studies. The generative mechanisms for brain activity at early ages are likely different from those of adults, and may play very different roles; for example in circuit formation as opposed to attention. © 2012 Elsevier Inc

“L’inganno degli occhi”. Borromini’s perspectival niche for the Casa dei Filippini in Rome

The RCIN 905602 sheet of the Royal Collection, Windsor contains an orthogonal projection presentation drawing made by Francesco Borromini in 1627 and showing one of Gianlorenzo Bernini's proposals for the Tomb of Urban VIII. The apsidal frame rendered in perspective can be related to the perspective niche that Borromini himself placed above the fictitious entrance in the center of the facade of the Casa dei Filippini in Rome a few years later. The sheet is studied here in the context of the influence that the diffusion of representation methods and practices has had on the forms of architecture as well as their visual perception. After discussing the reason for the construction of such a perspective device, its representation in the design documents and its reception in the images of the square after its construction, the authors present the results of a geometric analysis and reconstruction after photo-modeling ot the niche itself, aimed at determining the position of the ideal observer on the square considered in designing the device, and they discuss the relationship between this spatial stratagem and the graphic trick atopted in the tomb design

Glutamate-mediated blood-brain barrier opening. implications for neuroprotection and drug delivery

The blood-brain barrier is a highly selective anatomical and functional interface allowing a unique environment for neuro-glia networks. Blood-brain barrier dysfunction is common in most brain disorders and is associated with disease course and delayed complications. However, the mechanisms underlying blood-brain barrier opening are poorly understood. Here we demonstrate the role of the neurotransmitter glutamate in modulating early barrier permeability in vivo Using intravital microscopy, we show that recurrent seizures and the associated excessive glutamate release lead to increased vascular permeability in the rat cerebral cortex, through activation of NMDA receptors. NMDA receptor antagonists reduce barrier permeability in the peri-ischemic brain, whereas neuronal activation using high-intensity magnetic stimulation increases barrier permeability and facilitates drug delivery. Finally, we conducted a double-blind clinical trial in patients with malignant glial tumors, using contrast-enhanced magnetic resonance imaging to quantitatively assess blood-brain barrier permeability. We demonstrate the safety of stimulation that efficiently increased blood-brain barrier permeability in 10 of 15 patients with malignant glial tumors. We suggest a novel mechanism for the bidirectional modulation of brain vascular permeability toward increased drug delivery and prevention of delayed complications in brain disorders. SIGNIFICANCE STATEMENT: In this study, we reveal a new mechanism that governs blood-brain barrier (BBB) function in the rat cerebral cortex, and, by using the discovered mechanism, we demonstrate bidirectional control over brain endothelial permeability. Obviously, the clinical potential of manipulating BBB permeability for neuroprotection and drug delivery is immense, as we show in preclinical and proof-of-concept clinical studies. This study addresses an unmet need to induce transient BBB opening for drug delivery in patients with malignant brain tumors and effectively facilitate BBB closure in neurological disorders

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Background: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits. Case presentation: In this manuscript, we describe two Italian siblings carrying a novel POLR3A genotype. MRI imaging, genetic analysis, and clinical data led to diagnosing HL type 7. The female sibling, at the age of 34, is tetra-paretic and suffers from severe cognitive regression. She had a disease onset at the age of 19, characterized by slow and progressive cognitive impairment associated with gait disturbances and amenorrhea. The male sibling was diagnosed during an MRI carried out for cephalalgia at the age of 41. After 5 years, he developed mild cognitive impairment, dystonia with 4-limb hypotonia, and moderate dysmetria with balance and gait impairment. Conclusions: The present study provides the first evidence of unusually late age of onset in HL, describing two siblings with a novel POLR3A genotype which showed the first symptoms at the age of 41 and 19, respectively. This provides a powerful insight into clinical heterogeneity and genotype-phenotype correlation in POLR3A related HL

Pentraxins coordinate excitatory synapse maturation and circuit integration of parvalbumin interneurons

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.Circuit computation requires precision in the timing, extent, and synchrony of principal cell (PC) firing that is largely enforced by parvalbumin-expressing, fast-spiking interneurons (PVFSIs). To reliably coordinate network activity, PVFSIs exhibit specialized synaptic and membrane properties that promote efficient afferent recruitment such as expression of high-conductance, rapidly gating, GluA4-containing AMPA receptors (AMPARs). We found that PVFSIs upregulate GluA4 during the second postnatal week coincident with increases in the AMPAR clustering proteins NPTX2 and NPTXR. Moreover, GluA4 is dramatically reduced in NPTX2(-/-)/NPTXR(-/-) mice with consequent reductions in PVFSI AMPAR function. Early postnatal NPTX2(-/-)/NPTXR(-/-) mice exhibit delayed circuit maturation with a prolonged critical period permissive for giant depolarizing potentials. Juvenile NPTX2(-/-)/NPTXR(-/-) mice display reduced feedforward inhibition yielding a circuit deficient in rhythmogenesis and prone to epileptiform discharges. Our findings demonstrate an essential role for NPTXs in controlling network dynamics highlighting potential therapeutic targets for disorders with inhibition/excitation imbalances such as schizophrenia.Work supported by a PRAT fellowship to M.S.W., an NICHD intramural award to C.J.M., NIDCD intramural research program funding to R.S.P., an NIMH intramural award to H.A.C., NIH grants (PAR-02-059, NS 039156) to P.F.W., and an NIH grant (EY022730) to M.T.

A compact statistical model of the song syntax in Bengalese finch

Songs of many songbird species consist of variable sequences of a finite number of syllables. A common approach for characterizing the syntax of these complex syllable sequences is to use transition probabilities between the syllables. This is equivalent to the Markov model, in which each syllable is associated with one state, and the transition probabilities between the states do not depend on the state transition history. Here we analyze the song syntax in a Bengalese finch. We show that the Markov model fails to capture the statistical properties of the syllable sequences. Instead, a state transition model that accurately describes the statistics of the syllable sequences includes adaptation of the self-transition probabilities when states are repeatedly revisited, and allows associations of more than one state to the same syllable. Such a model does not increase the model complexity significantly. Mathematically, the model is a partially observable Markov model with adaptation (POMMA). The success of the POMMA supports the branching chain network hypothesis of how syntax is controlled within the premotor song nucleus HVC, and suggests that adaptation and many-to-one mapping from neural substrates to syllables are important features of the neural control of complex song syntax