Publications by authors named "Luigi Caputi"

44 Publications

The complete mitochondrial genome of the sharpsnout seabream (Perciformes: Sparidae).

Mitochondrial DNA B Resour 2020 Jun 8;5(3):2379-2381. Epub 2020 Jun 8.

Department of Veterinary Medicine and Animal Production, University "Federico II", Naples, Italy.

The sharpsnout seabream Walbaum, 1792 is a target species of small-scale fishery activities and is cage-cultured for human consumption. Nonetheless, genetic information on this species is limited. We here first sequence its complete mitochondrial genome. The sequence is composed of 16,638 base pairs, accounting for 13 protein-coding genes, 2 rRNA genes, 22 tRNA genes, and 2 non-coding regions (D-loop and L-origin). The overall nucleotide composition is: 27.4% A, 28.9% C, 26.9% T, and 16.8% G. Maximum likelihood analyses placed close to and some species.
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http://dx.doi.org/10.1080/23802359.2020.1775509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7782139PMC
June 2020

The EJC component Magoh in non-vertebrate chordates.

Dev Genes Evol 2020 07 6;230(4):295-304. Epub 2020 Jul 6.

Department of Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn Napoli, 80121, Naples, Italy.

Earliest craniates possess a newly enlarged, elaborated forebrain with new cell types and neuronal networks. A key question in vertebrate evolution is when and how this cerebral expansion took place. The exon-junction complex (EJC) plays an essential role in mRNA processing of all Eukarya. Recently, it has been proposed that the EJC represses recursive RNA splicing in Deuterostomes, with implication in human brain diseases like microcephaly and depression. However, the EJC or EJC subunit contribution to brain development in non-vertebrate Deuterostomes remained unknown. Being interested in the evolution of chordate characters, we focused on the model species, Branchiostoma lanceolatum (Cephalochordata) and Ciona robusta (Tunicata), with the aim to investigate the ancestral and the derived expression state of Magoh orthologous genes. This study identifies that Magoh is part of a conserved syntenic group exclusively in vertebrates and suggests that Magoh has experienced duplication and loss events in mammals. During early development in amphioxus and ascidian, maternal contribution and zygotic expression of Magoh genes in various types of progenitor cells and tissues are consistent with the condition observed in other Bilateria. Later in development, we also show expression of Magoh in the brain of cephalochordate and ascidian larvae. Collectively, these results provide a basis to further define what functional role(s) Magoh exerted during nervous system development and evolution.
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http://dx.doi.org/10.1007/s00427-020-00664-7DOI Listing
July 2020

Carotid Wallstent Versus Roadsaver Stent and Distal Versus Proximal Protection on Cerebral Microembolization During Carotid Artery Stenting.

JACC Cardiovasc Interv 2020 02 29;13(4):403-414. Epub 2020 Jan 29.

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy; Centro Cardiologico Monzino, IRCCS, Milan, Italy.

Objectives: The aim of this study was to randomly compare the double-layer Roadsaver stent (RS) (Terumo, Tokyo, Japan) with the single-layer Carotid Wallstent (CW) (Boston Scientific, Santa Clara, California) in association with either distal embolic protection with the FilterWire (FW) device (Boston Scientific) or proximal protection with the Mo.Ma Ultra device (Medtronic, Santa Rosa, California) in patients with lipid-rich carotid plaques.

Background: The role of both stent type and brain protection during carotid artery stenting (CAS) remains unsettled.

Methods: A total of 104 consecutive patients with carotid artery stenosis were randomized to CAS with FW + RS (group 1, n = 27), FW + CW (group 2, n = 25), Mo.Ma + RS (group 3, n = 27), or Mo.Ma + CW (group 4, n = 25). The primary endpoint was the number of microembolic signals (MES) on transcranial Doppler among groups in the following CAS steps: 1 and 2) target vessel access; 3) lesion wiring; 4) pre-dilation; 5) stent crossing; 6) stent deployment; 7) stent dilation; and 8) device retrieval and deflation.

Results: No significant differences in baseline characteristics were found among the 4 groups. Compared with the FW device, the Mo.Ma Ultra device significantly reduced mean MES count (p < 0.0001) during lesion crossing, stent crossing, stent deployment, and post-dilation. Compared with the CW, the RS significantly reduced MES count (p = 0.016) in steps 6 to 8, including spontaneous MES (29% of patients). The combination of Mo.Ma + RS performed significantly better than Mo.Ma + CW (p = 0.043). Clinical major adverse cardiac and cerebrovascular events occurred in 3 patients (p = 0.51). After CAS, peak systolic velocity significantly decreased in all patients. In-stent restenosis developed in 1 patient (0.98%) at 6-month follow-up. The RS was an independent predictor of external carotid artery patency over time.

Conclusions: In patients with high-risk, lipid-rich plaque undergoing CAS, Mo.Ma + RS led to the lowest microembolic signals count. (Role of the Type of Carotid Stent and Cerebral Protection on Cerebral Microembolization During Carotid Artery Stenting. A Randomized Study Comparing Carotid Wallstent vs Roadsaver® Stent and Distal vs Proximal Protection; NCT02915328).
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http://dx.doi.org/10.1016/j.jcin.2019.09.007DOI Listing
February 2020

Neurovascular Perfusion Study With DynaPBV During Preoperative Balloon Test Occlusion: A Feasibility Study on Aneurysm and Tumor Lesions.

J Comput Assist Tomogr 2020 May/Jun;44(3):399-404

Diagnostic Imaging and Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

To report feasibility, safety, and technical advantages of flat-detector computed tomography perfusion (FD-CTP) during balloon test occlusion (BTO) angiography studies, 10 patients patients scheduled for BTO were evaluated. Cerebral blood volume maps were extracted from FD-CTP images acquired during the test. The FD-CTP perfusion combined with BTO is feasible and safe in intracranial tumor, and aneurysm cases in which vessel sacrifice should be considered.
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http://dx.doi.org/10.1097/RCT.0000000000000961DOI Listing
May 2020

Into the bloom: Molecular response of pelagic tunicates to fluctuating food availability.

Mol Ecol 2020 01 18;29(2):292-307. Epub 2019 Dec 18.

Stazione Zoologica Anton Dohrn, Naples, Italy.

The planktonic tunicates appendicularians and thaliaceans are highly efficient filter feeders on a wide range of prey size including bacteria and have shorter generation times than any other marine grazers. These traits allow some tunicate species to reach high population densities and ensure their success in a favourable environment. However, there are still few studies focusing on which genes and gene pathways are associated with responses of pelagic tunicates to environmental variability. Herein, we present the effect of food availability increase on tunicate community and gene expression at the Marquesas Islands (South-East Pacific Ocean). By using data from the Tara Oceans expedition, we show that changes in phytoplankton density and composition trigger the success of a dominant larvacean species (an undescribed appendicularian). Transcriptional signature to the autotroph bloom suggests key functions in specific physiological processes, i.e., energy metabolism, muscle contraction, membrane trafficking, and proteostasis. The relative abundance of reverse transcription-related Pfams was lower at bloom conditions, suggesting a link with adaptive genetic diversity in tunicates in natural ecosystems. Downstream of the bloom, pelagic tunicates were outcompeted by copepods. Our work represents the first metaomics study of the biological effects of phytoplankton bloom on a key zooplankton taxon.
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http://dx.doi.org/10.1111/mec.15321DOI Listing
January 2020

Meta-omics reveals genetic flexibility of diatom nitrogen transporters in response to environmental changes.

Mol Biol Evol 2019 Jul 1. Epub 2019 Jul 1.

Stazione Zoologica Anton Dohrn, Villa Comunale, Naples, Italy.

Diatoms (Bacillariophyta), one of the most abundant and diverse groups of marine phytoplankton, respond rapidly to the supply of new nutrients, often out-competing other phytoplankton. Herein, we integrated analyses of the evolution, distribution and expression modulation of two gene families involved in diatom nitrogen uptake (DiAMT1 and DiNRT2), in order to infer the main drivers of divergence in a key functional trait of phytoplankton. Our results suggest that major steps in the evolution of the two gene families reflected key events triggering diatom radiation and diversification. Their expression is modulated in the contemporary ocean by seawater temperature, nitrate and iron concentrations. Moreover, the differences in diversity and expression of these gene families throughout the water column hint at a possible link with bacterial activity. This study represents a proof-of-concept of how a holistic approach may shed light on the functional biology of organisms in their natural environment.
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http://dx.doi.org/10.1093/molbev/msz157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805229PMC
July 2019

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.

J Clin Neurosci 2019 Jun 22;64:42-44. Epub 2019 Mar 22.

Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133 Milan, Italy.

Primary Angiitis of the Central Nervous System (PACNS) is a rare form of idiopathic CNS vasculitis. Neuroimaging is often abnormal and characterized by multifocal brain lesions, but brain biopsy definitely confirms the diagnosis. We report the rare case of a 45-year-old female presenting with symptoms of intracranial hypertension and leukodystrophy-like neuroimaging findings. A comprehensive diagnostic work-up led to the unexpected diagnosis of a definite PACNS which was successfully treated by immunosuppressive treatment. Although rarely, PACNS can present as diffuse leukoencephalopathy on neuroimaging, and mimic even an inherited leukodystrophy. Therefore, in adults with leukodystrophy-like neuroimaging findings, careful examination of clinical and non-clinical features is mandatory to avoid missing the diagnosis of a treatable acquired disease.
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http://dx.doi.org/10.1016/j.jocn.2019.03.021DOI Listing
June 2019

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.

Neurol Sci 2019 Mar 3;40(3):561-570. Epub 2019 Jan 3.

Cerebrovascular Unit, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.

Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results.

Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies.

Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed.

Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.
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http://dx.doi.org/10.1007/s10072-018-3664-zDOI Listing
March 2019

Functional conserved non-coding elements among tunicates and chordates.

Dev Biol 2019 04 20;448(2):101-110. Epub 2018 Dec 20.

Department of Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Napoli, Italy. Electronic address:

Non-coding regions with dozens to several hundred base pairs of extreme conservation have been found in all metazoan genomes. The distribution of these conserved non-coding elements (CNE) within and across genomes has suggested that many of them may have roles as transcriptional regulatory elements. A combination of bioinformatics and experimental approaches can be used to identify CNEs with regulatory activity in phylogenetically distant species. Nevertheless, the high divergent rate of genomic sequences of several organisms, such as tunicates, complicates the characterization of these conserved elements and very few examples really may prove their functional activity. We used a comparative approach to facilitate the identification of CNEs among distantly related or highly divergent species and experimentally demonstrated the functional significance of these novel CNEs. We first experimentally tested, in C. robusta and D. rerio transgenic embryos, the regulatory activity of conserved elements associated to genes involved in developmental control among different chordates (Homo sapiens and Danio rerio for vertebrates, Ciona robusta and Ciona savignyi for tunicates and Branchiostoma floridae for cephalochordates). Once demonstrated the cross-species functional conservation of these CNEs, the same gene loci were used as references to locate homologous regions and possible CNEs in available tunicate genomes. Comparison of tunicate-specific and chordate-specific CNEs revealed absence of conservation of the regulatory elements in spite of conservation of regulatory patterns, likely due to evolutionary specification of the respective developmental networks. This result highlights the importance of an integrative in-silico/in-vivo approach to CNEs investigation, encompassing both bioinformatics, essential for putative CNEs identification, and laboratory experiments, pivotal for the understanding of CNEs functionality.
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http://dx.doi.org/10.1016/j.ydbio.2018.12.012DOI Listing
April 2019

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Int J Mol Sci 2018 11 20;19(11). Epub 2018 Nov 20.

Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.
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http://dx.doi.org/10.3390/ijms19113675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274901PMC
November 2018

Expression of and in dipnoan and teleost fins provides new insights into the evolution of vertebrate appendages.

Evodevo 2018 27;9:11. Epub 2018 Apr 27.

5Department of Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Naples, Italy.

Background: The concerted activity of and transcription factors is essential for the subdivision of tetrapod limbs into proximo-distal (PD) domains; however, little is know about the evolution of this patterning mechanism. Here, we aim to study the expression of and orthologues in the median and paired rayed fins of zebrafish and in the lobed fins of the Australian lungfish.

Results: First, a late phase of expression of and in zebrafish dorsal and anal fins relates with segmentation of endochondral elements in proximal and distal radials. Second, our zebrafish in situ hybridization results reveal spatial and temporal changes between pectoral and pelvic fins. Third, in situ analysis of , and genes in pectoral fins identifies decoupled domains of expression along the PD axis.

Conclusions: Our data raise the possibility that the origin of stylopod and zeugopod lies much deeper in gnathostome evolution and that variation in and expression has played a substantial role in the transformation of appendage anatomy. Moreover, these observations provide evidence that the / profile considered a hallmark of stylopod/zeugopod patterning is present in .
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http://dx.doi.org/10.1186/s13227-018-0099-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924435PMC
April 2018

Sacral dural arteriovenous fistulas: a diagnostic and therapeutic challenge - single-centre experience of 13 cases and review of the literature.

J Neurointerv Surg 2018 Apr 12;10(4):415-421. Epub 2017 Oct 12.

Department of Interventional Neuroradiology, IRCCS Foundation Neurological Institute 'C. Besta', Milano, Italy.

Background: Sacral dural arteriovenous fistulas (DAVFs) are rare vascular abnormalities of the spine characterised by slowly progressive symptoms that can mimic different myelopathy disorders.

Object: To report our single Institution experience with sacral DAVFs.

Methods: We retrospectively reviewed the clinical records of patients admitted from 1 January 2006 to 31 December 2016 with a diagnosis of sacral DAVFs, treated by endovascular embolisation or surgical clipping. Clinical presentation, imaging characteristics, treatment results and follow-up were analysed.

Results: We identify 13 patients with sacral DAVFs supplied by lateral sacral arteries. Clinical presentation was characterised by different degrees of motor weakness and sphincter disturbances. In all patients, spinal MRI showed spinal cord hyperintensities with enhancement and prominent perimedullary vessels. Selective internal iliac angiography was mandatory to identify the exact location of the fistula. A complete embolisation was achieved in eight patients performing a single endovascular embolisation and in three patients performing a single surgical disconnection: two patients required combined procedures. Follow-up imaging showed a complete resolution of the spinal cord hyperintensities in 81% of patients and a reduction of the intramedullary enhancement in 91%. Gait improvement was observed in 73% of patients, while remaining stable in 27%. Sphincter disturbances improved in 36% of patients and remained stable in 64%.

Conclusion: Awareness of sacral location of DAVFs is critical because standard spinal angiography will not identify sacral supplies, unless internal iliac arteries are properly examined. In our experience, the endovascular treatment show results comparable to surgery when the fistula point is correctly disconnected.
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http://dx.doi.org/10.1136/neurintsurg-2017-013307DOI Listing
April 2018

Medial Tentorial Dural Arteriovenous Fistula Embolization: Single Experience with Embolic Liquid Polymer SQUID and Review of the Literature.

World Neurosurg 2017 Nov 18;107:1050.e1-1050.e7. Epub 2017 Aug 18.

Department of Neuroradiology, Interventional Unit, IRCCS Foundation Neurological Institute "C. Besta", Milano, Italy; Department of Neuroradiology, Azienda Ospedaliera Universitaria Integrata Borgo Trento, Verona, Italy.

Background: Tentorial dural arteriovenous fistulas (DAVFs) are uncommon, complex fistulas located between the leaves of the tentorium cerebelli with a specific anatomic and clinical presentation characterized by high hemorrhagic risk. We present a rare case of a medial tentorial DAVF successfully managed via transarterial embolization using SQUID liquid polymer.

Case Description: A 60-year-old woman presented with a history of left progressive hearing loss and tinnitus for >1 year. Cerebral angiography demonstrated the presence of a medial tentorial DAVF with multiple arterial feeders, including the artery of Davidoff and Schechter; reverse venous outflow was observed in the inferior sagittal sinus and in multiple cortical veins. The patient underwent transarterial embolization with SQUID liquid polymer, an embolic agent that provides 2 different viscous formulations to cast the DAVF. The procedure went well without any complication, and the patient regained her preoperative status. In the postprocedural period, the patient experienced complete resolution of tinnitus. At 6 months, she remained asymptomatic, and cerebral angiography confirmed complete, stable occlusion of the fistula and normalization of cerebral deep venous outflow.

Conclusions: Medial tentorial DAVFs are considered the most complex DAVFs because of their location and extensive vascular supply. Our literature review focused on endovascular treatment of tentorial DAVFs to highlight the usefulness of new embolic agents in management of these diseases. To our knowledge, we report the first successful use of SQUID liquid polymer in management of a tentorial DAVF.
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http://dx.doi.org/10.1016/j.wneu.2017.08.050DOI Listing
November 2017

Hemispheric language organization after congenital left brain lesions: A comparison between functional transcranial Doppler and functional MRI.

J Neuropsychol 2019 03 31;13(1):46-66. Epub 2017 May 31.

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.

This study investigated whether functional transcranial Doppler ultrasound (fTCD) is a suitable tool for studying hemispheric lateralization of language in patients with pre-perinatal left hemisphere (LH) lesions and right hemiparesis. Eighteen left-hemisphere-damaged children and young adults and 18 healthy controls were assessed by fTCD and fMRI to evaluate hemispheric activation during two language tasks: a fTCD animation description task and a fMRI covert rhyme generation task. Lateralization indices (LIs), measured by the two methods, differed significantly between the two groups, for a clear LH dominance in healthy participants and a prevalent activation of right hemisphere in more than 80% of brain-damaged patients. Distribution of participants in terms of left, right, and bilateral lateralization was highly concordant between fTCD and fMRI values. Moreover, right hemisphere language dominance in patients with left hemispheric lesions was significantly associated with severity of cortical and subcortical damage in LH. This study suggests that fTCD is an easily applicable tool that might be a valid alternative to fMRI for large-scale studies of patients with congenital brain lesions.
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http://dx.doi.org/10.1111/jnp.12128DOI Listing
March 2019

Modelling plankton ecosystems in the meta-omics era. Are we ready?

Mar Genomics 2017 Apr 7;32:1-17. Epub 2017 Mar 7.

Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Naples, Italy. Electronic address:

Recent progress in applying meta-omics approaches to the study of marine ecosystems potentially allows scientists to study the genetic and functional diversity of plankton at an unprecedented depth and with enhanced precision. However, while a range of persistent technical issues still need to be resolved, a much greater obstacle currently preventing a complete and integrated view of the marine ecosystem is the absence of a clear conceptual framework. Herein, we discuss the knowledge that has thus far been derived from conceptual and statistical modelling of marine plankton ecosystems, and illustrate the potential power of integrated meta-omics approaches in the field. We then propose the use of a semantic framework is necessary to support integrative ecological modelling in the meta-omics era, particularly when having to face the increased interdisciplinarity needed to address global issues related to climate change.
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http://dx.doi.org/10.1016/j.margen.2017.02.006DOI Listing
April 2017

The semisitting position: analysis of the risks and surgical outcomes in a contemporary series of 425 adult patients undergoing cranial surgery.

J Neurosurg 2017 10 16;127(4):867-876. Epub 2016 Dec 16.

Department of Neurosurgery.

OBJECTIVE The objective of this study was to analyze the incidence of the primary complications related to positioning or surgery and their impact on neurological outcome in a consecutive series of patients undergoing elective surgery in the semisitting position. METHODS The authors prospectively collected and retrospectively analyzed data from adult patients undergoing elective surgery in the semisitting position for a cranial disease. Patients were managed perioperatively according to a standard institutional protocol, a standardized stepwise positioning, and surgical maneuvers to decrease the risk of venous air embolism (VAE) and other complications. Intraoperative and postoperative complications were recorded. Neurointensive care unit (NICU) length of stay (LOS) and hospital LOS were the intermediate endpoints. Neurological outcome was the primary endpoint as determined by the modified Rankin scale (mRS) score at 6 months after surgery. RESULTS Four hundred twenty-five patients were included in the analysis. VAE occurred in 90 cases (21%) and it made no significant statistical difference in NICU LOS, hospital LOS, and neurological outcome. No complication was directly related to the semisitting position, although 46 patients (11%) experienced at least 1 surgery-related complication and NICU LOS and hospital LOS were significantly prolonged in this group. Neurological outcome was significantly worse for patients with complications (p < 0.0001). CONCLUSIONS Even in the presence of intraoperative VAE, the semisitting position was not related to an increased risk of postoperative deficits and can represent a safe additional option for the benefit of specific surgical and patient needs.
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http://dx.doi.org/10.3171/2016.8.JNS16719DOI Listing
October 2017

Mitochondrial m.3243A > G mutation and carotid artery dissection.

Mol Genet Metab Rep 2016 Dec 1;9:12-4. Epub 2016 Sep 1.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology - IRCCS Milan, Italy.

The common m.3243A > G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial diseases has been described for small vessels, while large vessels involvement in mitochondrial diseases is considered rare. Here we report two female patients harboring the m.3243A > G mutation, in whom the diagnosis of mitochondrial disease was made after acute dissection of the internal carotid arteries. Our cases expand the clinical spectrum of this mutation, and support the idea of large vessels vasculopathy due to impaired mitochondrial function in the vessel wall that may lead to arterial wall weakness. Thus, stroke in mitochondrial diseases could also be related to large vessels disease, but further studies are strongly needed. Moreover, mitochondrial aetiology should be kept in mind in patients with large vessel dissection, especially in those with additional mitochondrial red flags.
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http://dx.doi.org/10.1016/j.ymgmr.2016.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021764PMC
December 2016

Carotid Artery Stenting With Proximal Embolic Protection via a Transradial or Transbrachial Approach: Pushing the Boundaries of the Technique While Maintaining Safety and Efficacy.

J Endovasc Ther 2016 Aug 6;23(4):549-60. Epub 2016 Jun 6.

Department of Clinical Sciences and Community Health, University of Milan, Italy Centro Cardiologico Monzino, IRCCS, Milan, Italy.

Purpose: To compare the feasibility and safety of proximal cerebral protection to a distal filter during carotid artery stenting (CAS) via a transbrachial (TB) or transradial (TR) approach.

Methods: Among 856 patients who underwent CAS between January 2007 and July 2015, 214 (25%) patients (mean age 72±8 years; 154 men) had the procedure via a TR (n=154) or TB (n=60) approach with either Mo.MA proximal protection (n=61) or distal filter protection (n=153). The Mo.MA group (mean age 73±7 years; 54 men) had significantly more men and more severe stenosis than the filter group (mean age 71±8 years; 100 men). Stent type and CAS technique were left to operator discretion. Heparin and a dedicated closure device or bivalirudin and manual compression were used in TR and TB accesses, respectively. Technical and procedure success, crossover to femoral artery, 30-day major adverse cardiovascular/cerebrovascular events (MACCE; death, all strokes, and myocardial infarction), vascular complications, and radiation exposure were compared between groups.

Results: Crossover to a femoral approach was required in 1/61 (1.6%) Mo.MA patient vs 11/153 (7.1%) filter patients mainly due to technical difficulty in engaging the target vessel. Five Mo.MA patients developed acute intolerance to proximal occlusion; 4 were successfully shifted to filter protection. A TR patient was shifted to filter because the Mo.MA system was too short. CAS was technically successful in the remaining 55 (90%) Mo.MA patients and 142 (93%) filter patients. The MACCE rate was 0% in the Mo.MA patients and 2.8% in the filter group (p=0.18). Radiation exposure was similar between groups. Major vascular complications occurred in 1/61 (1.6%) and in 3/153 (1.96%) patients in the Mo.MA and filter groups (p=0.18), respectively, and were confined to the TB approach in the early part of the learning curve. Chronic radial artery occlusion was detected by Doppler ultrasound in 2/30 (6.6%) Mo.MA patients and in 4/124 (3.2%) filter patients by clinical assessment (p=0.25) at 8.1±7.5-month follow-up.

Conclusion: CAS with proximal protection via a TR or TB approach is a feasible, safe, and effective technique with a low rate of vascular complications.
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http://dx.doi.org/10.1177/1526602816651424DOI Listing
August 2016

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

J Neurol Sci 2016 May 5;364:77-83. Epub 2016 Mar 5.

Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany.

Divry van Bogaert Syndrome (DBS) is a familial juvenile-onset disorder characterized by livedo racemosa, white matter disease, dementia, epilepsy and angiographic finding of "cerebral angiomatosis". A similar syndrome including livedo racemosa and cerebrovascular disease, often associated with anticardiolipin antibodies, has been described as Sneddon Syndrome (SS) highlighting the question whether these two conditions have to be considered different entities or indeed different features of a unique syndrome. Herein, we report the clinical, neuroradiological, histopathological findings and follow up of three cases diagnosed as Divry-van Bogaert Syndrome, including an updated review of literature of both DBS and SS cases. Our findings support the assumption that DBS and SS are different disease entities. DBS is characterized by the typical angiographic feature of angiomatosis, a hereditary trait and a juvenile onset of cognitive impairment and leukoaraiosis, whereas SS has less severe manifestations of cerebrovascular disease associated with livedo racemosa but without the characteristic cerebral angiography. The report of our cases and the literature review underline the necessity of a detailed work-up and the collection of larger series to better clarify the DBS and SS phenotype and course.
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http://dx.doi.org/10.1016/j.jns.2016.03.011DOI Listing
May 2016

Thyroid development in zebrafish lacking Taz.

Mech Dev 2015 Nov 22;138 Pt 3:268-78. Epub 2015 Oct 22.

Stazione Zoologica Anton Dohrn, 80121 Naples, Italy. Electronic address:

Taz is a signal-responsive transcriptional coregulator implicated in several biological functions, from chondrogenesis to regulation of organ size. Less well studied, however, is its role in thyroid formation. Here, we explored the in vivo effects on thyroid development of morpholino (MO)-mediated knockdown of wwtr1, the gene encoding zebrafish Taz. The wwtr1 gene is expressed in the thyroid primordium and pharyngeal tissue of developing zebrafish. Compared to mammalian cells, in which Taz promotes expression of thyroid transcription factors and thyroid differentiation genes, wwtr1 MO injection in zebrafish had little or no effect on the expression of thyroid transcription factors, and differentially altered the expression of thyroid differentiation genes. Analysis of wwtr1 morphants at later stages of development revealed that the number and the lumen of thyroid follicles, and the number of thyroid follicle cells, were significantly smaller. In addition, Taz-depleted larvae displayed patterning defects in ventral cranial vessels that correlate with lateral displacement of thyroid follicles. These findings indicate that the zebrafish Taz protein is needed for the normal differentiation of the thyroid and are the first to suggest that Taz confers growth advantage to the endocrine gland.
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http://dx.doi.org/10.1016/j.mod.2015.10.002DOI Listing
November 2015

Regulatory elements retained during chordate evolution: coming across tunicates.

Genesis 2015 Jan 1;53(1):66-81. Epub 2014 Dec 1.

Cellular and Developmental Biology Laboratory, Stazione Zoologica Anton Dohrn, Villa Comunale, Naples, Italy.

Understanding the role of conserved noncoding elements (CNEs) throughout the genome is taking advantage of the improved efficiency of genome-sequencing techniques and bioinformatics tools. Tunicates diverged before the vertebrate whole genome duplications and, therefore, represent an optimal model system to study the evolution of complex regulatory networks. Here, we review the current knowledge on the characterization of CNEs during embryonic development, focusing on the evolutionary similarity and divergence between tunicates and other chordates. Many vertebrate specific CNEs that regulate developmental processes were identified based on high level of sequence conservation, but only few of them have been recognized in tunicates or other invertebrates because of genomic sequences divergence. We discuss recent studies demonstrating that a combination of different methodologies, based not only on high sequence identity, can collectively be used to identify CNEs with regulatory activity in phylogenetically distant species. Here, a low sequence constraints approach was successfully used to search orthologous chordate gene regions for cross-species conserved regulatory elements that control developmental genes.
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http://dx.doi.org/10.1002/dvg.22838DOI Listing
January 2015

Cerebrovascular reactivity by quantitative magnetic resonance angiography with a Co₂ challenge. Validation as a new imaging biomarker.

Eur J Radiol 2014 Jun 22;83(6):1005-1010. Epub 2014 Mar 22.

Department of Neuroradiology, Fondazione IRCCS Neurological Institute C. Besta, Via Celoria 11, 20133 Milan, Italy. Electronic address:

Assessment of cerebrovascular reactivity (CVR) is essential in cerebrovascular diseases, as exhausted CVR may enhance the risk of cerebral ischemic events. Transcranial Doppler (TCD) with a vasodilatory stimulus is currently used for CVR evaluation. Scanty data are available for Quantitative Magnetic Resonance Angiography (QMRA), which supplies higher spatial resolution and quantitative cerebral blood flow values. Aims of our pilot study were: (a) to assess safety and feasibility of CO2 administration during QMRA, (b) evaluation of CVR under QMRA compared to TCD, and (c) quantitative evaluation of blood flow from the major intracranial arterial vessels both at rest and after CO2. CVR during 5% CO2 air breathing was measured with TCD as a reference method and compared with QMRA. Fifteen healthy subjects (age 60.47 ± 2.24; male 11/15) were evaluated at rest and during CO2 challenge. Feasibility and safety of QMRA under CO2 were ensured in all subjects. CVR from middle cerebral artery territory was not statistically different between TCD and MRI (p>0.05). Mean arterial pressure (MAP) and heart rate (HR) increased during QMRA and TCD (MAP p=0.007 and p=0.001; HR p=0.043 and p=0.068, respectively). Blood flow values from all intracranial vessels increased after CO2 inhalation (p<0.001). CO2 administration during QMRA sessions is safe and feasible. Good correlation in terms of CVR was obtained comparing TCD and QMRA. Blood flow values significantly increased from all intracranial arterial vessels after CO2. Studies regarding CVR in physiopathological conditions might consider the utilization of QMRA both in routine clinical settings and in research projects.
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http://dx.doi.org/10.1016/j.ejrad.2014.03.001DOI Listing
June 2014

Carotid artery stenting in patients with left ICA stenosis and bovine aortic arch: a single-center experience in 60 consecutive patients treated via the right radial or brachial approach.

J Endovasc Ther 2014 Feb;21(1):127-36

1 Department of Clinical Sciences and Community Health, University of Milan, Centro Cardiologico Monzino, IRCCS, Milan, Italy.

Purpose: To assess the safety and efficacy of carotid artery stenting (CAS) of the left internal carotid artery (LICA) from a right radial/brachial approach in patients with bovine aortic arch.

Methods: Among 505 consecutive CAS patients treated at our facility between June 2007 and December 2012, 60 (11.9%) patients (44 men; mean age 73±9 years) with LICA stenosis and bovine arch were treated from a right radial (n=32) or brachial (n=28) approach. Three quarters of the patients had characteristics qualifying them at high surgical risk; 52 were asymptomatic. The types of cerebral protection (a distal filter or proximal MO.MA system), stent, and technique were at the operation's discretion.

Results: The radial/brachial approach was successful in 59 (98.3%) of 60 procedures; 1 case was converted to a femoral approach. Proximal protection was used in 15 cases (11 brachial, 4 radial) with severe, soft plaques, although the MO.MA system proved too short in a tall patient having a radial approach and a filter was used. Clinical success with no adverse events was 96.7% owing to 1 retinal embolism and 1 minor stroke. Vascular complications occurred in 2 (3.3%) brachial group patients. No major bleeding was encountered. Over a mean follow-up of 18.7±17.5 months, midterm event-free survival was 93%. No target vessel revascularization was necessary.

Conclusion: CAS via a right radial or brachial approach is safe and effective in patients with LICA stenosis and types 1 or 2 bovine arch.
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http://dx.doi.org/10.1583/13-4491MR.1DOI Listing
February 2014

Residual shunt after patent foramen ovale closure: preliminary results from Italian patent foramen ovale survey.

J Stroke Cerebrovasc Dis 2013 Oct 22;22(7):e219-26. Epub 2013 Jan 22.

Department of Cerebrovascular Diseases, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Neurological Institute C. Besta, Milan, Italy. Electronic address:

Background: Percutaneous patent foramen ovale (PFO) closure is accepted as treatment for cryptogenic ischemic stroke/transient ischemic attack in young subjects. However, a thorough evaluation of residual right-to-left shunt (rRLS) after PFO closure is needed. Our aims were to analyze the characteristics related to PFO diagnosis and closure, focusing on rRLS and clinical recurrences until 24-month follow-up. Data were extrapolated from the 12-month Italian PFO Survey.

Methods: In all, 1035 patients were included. PFO diagnosis and right-to-left shunt (RLS) were assessed by contrast-enhanced transesophageal and/or transthoracic echocardiography and/or transcranial Doppler.

Results: PFO diagnosis with RLS data were available in 894 of 1035 (86.4%) patients. rRLS was investigated in 49.6% (6 months), 27.1% (12 months), and 3.5% (24 months), and observed in 19.5% (6 months) and 18.2% (12 months) of subjects. Large permanent rRLS was observed in less than 3% of RLS-positive patients after 1 year. Eleven of 14 and 3 of 14 neurological recurrences were observed in 10 of 444 (2.25%) and 2 of 243 (0.8%) patients within the 6- and 12-month follow-up, respectively. Among these, no large rRLS was reported. There were no neurological events at 2-year follow-up. Forty of 444 subjects had non-neurological complications, mostly cardiac arrhythmias within the sixth month.

Conclusions: PFO closure is a safe procedure. rRLS is not uncommon but large rRLS is rare. Clinical complications, mostly related to cardiac arrhythmias, are not unusual. Evaluation of the data of the whole survey is underway.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2012.12.002DOI Listing
October 2013

Microembolization during carotid artery stenting in patients with high-risk, lipid-rich plaque. A randomized trial of proximal versus distal cerebral protection.

J Am Coll Cardiol 2011 Oct;58(16):1656-63

Department of Cardiovascular Sciences, University of Milan, Centro Cardiologico Monzino, IRCCS, Via Parea 4, Milan, Italy.

Objectives: The goal of this study was to compare the rate of cerebral microembolization during carotid artery stenting (CAS) with proximal versus distal cerebral protection in patients with high-risk, lipid-rich plaque.

Background: Cerebral protection with filters partially reduces the cerebral embolization rate during CAS. Proximal protection has been introduced to further decrease embolization risk.

Methods: Fifty-three consecutive patients with carotid artery stenosis and lipid-rich plaque were randomized to undergo CAS with proximal protection (MO.MA system, n = 26) or distal protection with a filter (FilterWire EZ, n = 27). Microembolic signals (MES) were assessed by using transcranial Doppler during: 1) lesion wiring; 2) pre-dilation; 3) stent crossing; 4) stent deployment; 5) stent dilation; and 6) device retrieval/deflation. Diffusion-weighted magnetic resonance imaging was conducted before CAS, after 48 h, and after 30 days.

Results: Patients in the MO.MA group had higher percentage diameter stenosis (89 ± 6% vs. 86 ± 5%, p = 0.027) and rate of ulcerated plaque (35% vs. 7.4%; p = 0.019). Compared with use of the FilterWire EZ, MO.MA significantly reduced mean MES counts (p < 0.0001) during lesion crossing (mean 18 [interquartile range (IQR): 11 to 30] vs. 2 [IQR: 0 to 4]), stent crossing (23 [IQR: 11 to 34] vs. 0 [IQR: 0 to 1]), stent deployment (30 [IQR: 9 to 35] vs. 0 [IQR: 0 to 1]), stent dilation (16 [IQR: 8 to 30] vs. 0 [IQR: 0 to 1]), and total MES (93 [IQR: 59 to 136] vs. 16 [IQR: 7 to 36]). The number of patients with MES was higher with the FilterWire EZ versus MO.MA in phases 3 to 5 (100% vs. 27%; p < 0.0001). By multivariate analysis, the type of brain protection was the only independent predictor of total MES number. No significant difference was found in the number of patients with new post-CAS embolic lesion in the MO.MA group (2 of 14, 14%) as compared with the FilterWire EZ group (9 of 21, 42.8%).

Conclusions: In patients with high-risk, lipid-rich plaque undergoing CAS, MO.MA led to significantly lower microembolization as assessed by using MES counts.
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http://dx.doi.org/10.1016/j.jacc.2011.07.015DOI Listing
October 2011

Differential regulation of HCN channel isoform expression in thalamic neurons of epileptic and non-epileptic rat strains.

Neurobiol Dis 2012 Jan 16;45(1):450-61. Epub 2011 Sep 16.

Institut für Physiologie I, Westfälische Wilhelms-Universität Münster, Robert-Koch-Str. 27a, D-48149 Münster, Germany.

Hyperpolarization-activated cyclic nucleotide-gated cation (HCN) channels represent the molecular substrate of the hyperpolarization-activated inward current (I(h)). Although these channels act as pacemakers for the generation of rhythmic activity in the thalamocortical network during sleep and epilepsy, their developmental profile in the thalamus is not yet fully understood. Here we combined electrophysiological, immunohistochemical, and mathematical modeling techniques to examine HCN gene expression and I(h) properties in thalamocortical relay (TC) neurons of the dorsal part of the lateral geniculate nucleus (dLGN) in an epileptic (WAG/Rij) compared to a non-epileptic (ACI) rat strain. Recordings of TC neurons between postnatal day (P) 7 and P90 in both rat strains revealed that I(h) was characterized by higher current density, more hyperpolarized voltage dependence, faster activation kinetics, and reduced cAMP-sensitivity in epileptic animals. All four HCN channel isoforms (HCN1-4) were detected in dLGN, and quantitative analyses revealed a developmental increase of protein expression of HCN1, HCN2, and HCN4 but a decrease of HCN3. HCN1 was expressed at higher levels in WAG/Rij rats, a finding that was correlated with increased expression of the interacting proteins filamin A (FilA) and tetratricopeptide repeat-containing Rab8b-interacting protein (TRIP8b). Analysis of a simplified computer model of the thalamic network revealed that the alterations of I(h) found in WAG/Rij rats compensate each other in a way that leaves I(h) availability constant, an effect that ensures unaltered cellular burst activity and thalamic oscillations. These data indicate that during postnatal developmental the hyperpolarizing shift in voltage dependency (resulting in less current availability) is compensated by an increase in current density in WAG/Rij thereby possibly limiting the impact of I(h) on epileptogenesis. Because HCN3 is expressed higher in young versus older animals, HCN3 likely does not contribute to alterations in I(h) in older animals.
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http://dx.doi.org/10.1016/j.nbd.2011.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225716PMC
January 2012

Microembolic air load during contrast-transcranial Doppler: a trigger for migraine with aura?

Headache 2010 Sep 28;50(8):1320-7. Epub 2010 Jan 28.

Department of Cerebrovascular Diseases, Neurological Institute C. Besta, Milan, Italy.

Background: There is a well-known association between migraine with aura (MA) and right-to-left shunt (RILES) because of patent foramen ovale (PFO). The occurrence of MA attacks after microbubble (MB) injection during contrast-enhanced transcranial Doppler (ce-TCD) has been recently described.

Objectives: The aim of this study was to analyze the prevalence of RILES in a consecutive cohort of MA patients and to characterize the occurrence of MA attacks after diagnostic ce-TCD.

Methods: A total of 159 consecutive MA patients underwent ce-TCD with air-mixed saline to disclose RILES. RILES was characterized in terms of MB amount (small-moderate or large) and occurrence at rest and/or during Valsalva maneuver (permanent or latent).

Results: RILES was revealed in 79/159 patients (∼ 50%). Permanent RILES were detected in 56/79 (71%) and latent RILES in 23/79 (29%) MA patients. The occurrence of a typical MA attack was overall observed in 12/159 patients (7.5%; 95% CI: 4-12.8%), but arose only in RILES-positive ones, immediately after ce-TCD (12/79; 15.2%; P< .001). All 12 patients had permanent RILES (12/56; 21.4%; P= .015) and MA attack was mostly observed in large RILES-positive patients, even without statistical significance (P= .118).

Conclusions: Microembolic air load could act as a trigger of MA attack. According to recent studies and to the clinical characteristics observed in our patients, microembolization because of MB injection might provoke a decrease in cerebral oxygen saturation, thus triggering cortical spreading depression and, thereafter, MA attack. Larger and prospective studies will be necessary to confirm our data and observe a wider correlation.
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http://dx.doi.org/10.1111/j.1526-4610.2010.01621.xDOI Listing
September 2010