Publications by authors named "Giovanni Morana"

152 Publications

Trans-oral approach for occipital condyle biopsy: Case report and review of literature.

Neuroradiol J 2021 Sep 22:19714009211044705. Epub 2021 Sep 22.

Department of Neuroscience, Neuroradiological Unit, University of Turin, Azienda Ospedaliera Città della Salute e della Scienza Hospital, Italy.

Isolated occipital condyle lesions are commonly treated with empirical radiation, with the sole aim of relieving symptoms. Patients rarely undergo surgical biopsy, considering the morbidity associated with open surgery approaches and the importance of surrounding structures limiting the application of computed tomography (CT) scan or fluoroscopic percutaneous needle biopsies. We describe the case of a 66-year-old woman who was admitted on an emergency basis. Her clinical presentation included unilateral occipital headache and ipsilateral hypoglossal nerve palsy. Imaging revealed findings consistent with an isolated right occipital condyle lesion. In order to pursue a tissue diagnosis, essential to dictate medical management accurately, a minimally invasive biopsy of the occipital condyle through the trans-oral route was performed. Combined fluoroscopy, cone-bean CT and angiography allowed safe access to the lesion.
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http://dx.doi.org/10.1177/19714009211044705DOI Listing
September 2021

Comparison of Triple-Rule-Out Prospectively ECG-triggered Systolic and Diastolic Acquisition Protocol in Patients With Acute Chest Pain.

J Thorac Imaging 2021 Sep 17. Epub 2021 Sep 17.

Department of Radiology, Santa Maria di Ca' Foncello Hospital, Treviso Department of Radiological, Oncological and Pathological Science, Sant'Andrea Hospital, "La Sapienza" University of Rome, Rome Department of Medicine-DIMED, Institute of Radiology, University of Padova, Padua, Italy.

Purpose: The purpose of this study was to compare image quality and coronary interpretability of triple-rule-out systolic and diastolic protocols in patients with acute chest pain.

Materials And Methods: From March 2016 to October 2017 the authors prospectively enrolled patients with undifferentiated acute chest pain, who were at low to intermediate cardiovascular risk. Those with heart rate >75 bpm underwent a systolic prospectively triggered acquisition (systolic triggering [ST]), and in those with ≤75 bpm, end-diastolic triggering (DT) was instead performed. Examinations were evaluated for coronary artery disease, aortic dissection, and pulmonary embolism. Image quality was assessed using a Likert scale. Coronary arteries interpretability was evaluated both on a per-vessel and a per segment basis. The occurrence of major adverse cardiovascular events was investigated.

Results: The final study population was 189 patients. Fifty-two patients (27.5%) underwent systolic acquisition and 137 (72.5%) underwent diastolic acquisition. No significant differences in overall image quality were observed between DT and ST groups (median score 5 [interquartile ranges 4 to 5] vs. 4 [interquartile ranges 4 to 5], P=0.074). Although both DT and ST protocols showed low percentages of noninterpretable coronary arteries on a per-vessel (1.5% and 6.7%, respectively) and per-segment analysis (1% and 4.7%, respectively), these percentages resulted significantly higher for ST groups (P<0.001). Obstructive coronary stenosis was observed in 18 patients. Only one case of pulmonary embolism was diagnosed and no cases of aortic dissection were found in our population. No death or major adverse cardiovascular events were observed during follow-up among the 2 groups.

Conclusions: Results showed that triple-rule-out computed tomography angiography is a reliable technique in patients with acute chest pain and that an ST acquisition protocol could be considered an alternative acquisition protocol in patients with higher heart rate, reaching a good image quality.
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http://dx.doi.org/10.1097/RTI.0000000000000620DOI Listing
September 2021

Early reversible leukoencephalopathy and unilateral sixth cranial nerve palsy in mild COVID-19 infection.

Neurol Sci 2021 Sep 4. Epub 2021 Sep 4.

Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, 10126, Turin, Italy.

Objectives: To provide new insights into neurological manifestations of COVID-19. We describe a patient with mild COVID-19 associated with diplopia from right sixth cranial nerve palsy and early diffuse leukoencephalopathy, successfully treated with intravenous methylprednisolone.

Methods: The patient was evaluated for diplopia that occurred 1 day after the onset of fever, myalgia, and headache. A complete neurological workup, including neurological examination, cerebrospinal fluid (CSF) analysis with viral polymerase chain reaction (PCR), serum autoimmune encephalitis, and anti-nerve antibodies and brain magnetic resonance imaging (MRI), was performed.

Results: Clinical examination revealed incomplete right sixth cranial nerve palsy. Brain MRI showed diffuse confluent fluid-attenuated inversion recovery (FLAIR) hyperintense white matter abnormalities, while CSF analysis showed mild hyperproteinorrachia (61 mg/dL) without pleocytosis. The patients were treated with high-dose intravenous methylprednisolone with rapid improvement of neurological symptoms and resolution of CSF and MRI abnormalities.

Discussion: Our report shows that COVID-19 may predominantly present with neurological symptoms; furthermore, it argues the notion of leukoencephalopathy as a typical feature of a severe case of the disease. Mechanisms underpinning neurological symptoms in COVID-19 still need to be elucidated; nonetheless, early recognition and prompt management may ensure their improvement or even complete recovery and are therefore recommended.
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http://dx.doi.org/10.1007/s10072-021-05545-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418453PMC
September 2021

Cystic pancreatic lesions: MR imaging findings and management.

Insights Imaging 2021 Aug 10;12(1):115. Epub 2021 Aug 10.

Department of Radiology, Regional Hospital Ca' Foncello, Piazza Ospedale 1, 3100, Treviso, Italy.

Cystic pancreatic lesions (CPLs) are frequently casual findings in radiological examinations performed for other reasons in patients with unrelated symptoms. As they require different management according to their histological nature, differential diagnosis is essential. Radiologist plays a key role in the diagnosis and management of these lesions as imaging is able to correctly characterize most of them and thus address to a correct management. The first step for a correct characterization is to look for a communication between the CPLs and the main pancreatic duct, and then, it is essential to evaluate the morphology of the lesions. Age, sex and a history of previous pancreatic pathologies are important information to be used in the differential diagnosis. As some CPLs with different pathologic backgrounds can show the same morphological findings, differential diagnosis can be difficult, and thus, the final diagnosis can require other techniques, such as endoscopic ultrasound, endoscopic ultrasound-fine needle aspiration and endoscopic ultrasound-through the needle biopsy, and multidisciplinary management is important for a correct management.
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http://dx.doi.org/10.1186/s13244-021-01060-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355307PMC
August 2021

THE ROLE OF CHEST CT IN DECIPHERING INTERSTITIAL LUNG INVOLVEMENT: SYSTEMIC SCLEROSIS VERSUS COVID-19.

Rheumatology (Oxford) 2021 Jul 28. Epub 2021 Jul 28.

Department of Experimental and Clinical Medicine, University of Florence, and Infectious and TropicalDiseases Unit, AOUC, Florence, Italy.

Objective: To identify the main computed tomography (CT) features that may help distinguishing a progression of interstitial lung disease (ILD) secondary to Systemic sclerosis (SSc) from COVID-19 pneumonia.

Methods: This multicentric study included 22 international readers divided in the radiologist group (RAD) and non-radiologist group (nRAD). A total of 99 patients, 52 with COVID-19 and 47 with SSc-ILD, were included in the study.

Results: Fibrosis inside focal ground glass opacities (GGO) in the upper lobes; fibrosis in the lower lobe GGO; reticulations in lower lobes (especially if bilateral and symmetrical or associated with signs of fibrosis) were the CT features most frequently associated with SSc-ILD. The CT features most frequently associated with COVID- 19 pneumonia were: consolidation (CONS) in the lower lobes, CONS with peripheral (both central/peripheral or patchy distributions), anterior and posterior CONS and rounded-shaped GGOs in the lower lobes. After multivariate analysis, the presence of CONS in the lower lobes (p < 0.0001) and signs of fibrosis in GGO in the lower lobes (p < 0.0001) remained independently associated with COVID-19 pneumonia or SSc-ILD, respectively. A predictive score was created which resulted positively associated with the COVID-19 diagnosis (96.1% sensitivity and 83.3% specificity).

Conclusion: The CT differential diagnosis between COVID-19 pneumonia and SSc-ILD is possible through the combination the proposed score and the radiologic expertise. The presence of consolidation in the lower lobes may suggest a COVID-19 pneumonia while the presence of fibrosis inside GGO may indicate a SSc-ILD.
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http://dx.doi.org/10.1093/rheumatology/keab615DOI Listing
July 2021

Hemispheric surgery for severe epilepsy in early childhood: a case series.

Epileptic Disord 2021 Aug;23(4):611-622

Unit of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Hemispheric surgery is an effective and cost-effective option for hemispheric epilepsy. Data specifically focusing on very early infancy are scant. In our study, we report the results of hemispheric surgery in children under three years of age, along with clinical, neuroradiological and EEG features, from two Italian epilepsy surgery centres. After reviewing our epilepsy surgery databases (2008-2018), we identified 14 patients (seven males) submitted to hemispheric surgery, under three years (range: 2-29 months), with a follow-up of at least 12 months. No deaths occurred, and surgical complications were observed in 3/17 procedures. At final follow-up visit (mean: 30.8 months; range: 12-90), 10/14 patients (71.4%) achieved Engel Class I (eight Class 1A, one Class 1B, and one Class 1C). Antiepileptic drugs were completely discontinued in three and reduced in eight, thus a significant decrease in drug regimen after surgery was achieved in 11/14 patients (78.6%). Before surgery, severe developmental delay was present in 10 patients, moderate in two and mild in two. At the last follow-up visit, the degree of developmental delay changed from severe to moderate in five patients, remained unchanged in six cases (four severe and two moderate), and changed from mild to moderate in two following surgery. In many cases, hemispheric surgery in children under three years is effective in achieving seizure freedom or reducing seizure frequency, with the possibility of simplifying complex drug regimens. Moreover, it appears to be a safe and well tolerated procedure, leading to improvement in cognition and posture.
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http://dx.doi.org/10.1684/epd.2021.1303DOI Listing
August 2021

Target Therapies for NASH/NAFLD: From the Molecular Aspect to the Pharmacological and Surgical Alternatives.

J Pers Med 2021 Jun 2;11(6). Epub 2021 Jun 2.

4th Surgery Unit, Regional Hospital Treviso, DISCOG, University of Padua, 31100 Padua, Italy.

Non-alcoholic fatty liver disease represents an increasing cause of chronic hepatic disease in recent years. This condition usually arises in patients with multiple comorbidities, the so-called metabolic syndrome. The therapeutic options are multiple, ranging from lifestyle modifications, pharmacological options, to liver transplantation in selected cases. The choice of the most beneficial one and their interactions can be challenging. It is mandatory to stratify the patients according to the severity of their disease to tailor the available treatments. In our contribution, we review the most recent pharmacological target therapies, the role of bariatric surgery, and the impact of liver transplantation on the NAFLD outcome.
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http://dx.doi.org/10.3390/jpm11060499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229090PMC
June 2021

Unusual splenic cystic mass in a 60-year-old male.

ANZ J Surg 2021 Jun 16. Epub 2021 Jun 16.

Second Surgery Unit, Regional Hospital Treviso, DISCOG, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1111/ans.17025DOI Listing
June 2021

European Society for Paediatric Oncology (SIOPE) MRI guidelines for imaging patients with central nervous system tumours.

Childs Nerv Syst 2021 08 10;37(8):2497-2508. Epub 2021 May 10.

Department of Radiology, Nottingham University Hospitals, Nottingham, UK.

Introduction: Standardisation of imaging acquisition is essential in facilitating multicentre studies related to childhood CNS tumours. It is important to ensure that the imaging protocol can be adopted by centres with varying imaging capabilities without compromising image quality.

Materials And Method: An imaging protocol has been developed by the Brain Tumour Imaging Working Group of the European Society for Paediatric Oncology (SIOPE) based on consensus among its members, which consists of neuroradiologists, imaging scientists and paediatric neuro-oncologists. This protocol has been developed to facilitate SIOPE led studies and regularly reviewed by the imaging working group.

Results: The protocol consists of essential MRI sequences with imaging parameters for 1.5 and 3 Tesla MRI scanners and a set of optional sequences that can be used in appropriate clinical settings. The protocol also provides guidelines for early post-operative imaging and surveillance imaging. The complementary use of multimodal advanced MRI including diffusion tensor imaging (DTI), MR spectroscopy and perfusion imaging is encouraged, and optional guidance is provided in this publication.

Conclusion: The SIOPE brain tumour imaging protocol will enable consistent imaging across multiple centres involved in paediatric CNS tumour studies.
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http://dx.doi.org/10.1007/s00381-021-05199-4DOI Listing
August 2021

Focal seizures with impaired awareness as long-term neurological complication of COVID-19: a case report.

Neurol Sci 2021 Jul 16;42(7):2619-2623. Epub 2021 Apr 16.

Department of Neuroscience "Rita Levi Montalcini", University of Torino, Via Cherasco 15, 10126, Turin, Italy.

We report here the first case of a young individual otherwise healthy, who presented with frequent focal seizures with impaired awareness as a possible long-term complication of severe acute respiratory syndrome coronavirus-2 infection. Seizures were documented by electroencephalography and responded clinically and neuro-physiologically to antiseizure therapy. The patient underwent an extensive investigation including cerebrospinal fluid examination, conventional and quantitative brain magnetic resonance imaging, and 18-FDG positron emission tomography. Beyond the clinical interest, this case contributes to clarify the possible pathways by which SARS-CoV-2 may enter the central nervous system and cause long-term neurological complications.
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http://dx.doi.org/10.1007/s10072-021-05233-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051830PMC
July 2021

Fibrocystic liver disease: novel concepts and translational perspectives.

Transl Gastroenterol Hepatol 2021 5;6:26. Epub 2021 Apr 5.

Liver Center and Section of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.

Fibrocystic liver diseases (FLDs) comprise a heterogeneous group of rare diseases of the biliary tree, having in common an abnormal development of the embryonic ductal plate caused by genetically-determined dysfunctions of proteins expressed in the primary cilia of cholangiocytes (and therefore grouped among the "ciliopathies"). The ductal dysgenesis may affect the biliary system at multiple levels, from the small intrahepatic bile ducts [congenital hepatic fibrosis (CHF)], to the larger intrahepatic bile ducts [Caroli disease (CD), or Caroli syndrome (CS), when CD coexists with CHF], leading to biliary microhamartomas and segmental bile duct dilations. Biliary changes are accompanied by progressive deposition of abundant peribiliary fibrosis. Peribiliary fibrosis and biliary cysts are the fundamental lesions of FLDs and are responsible for the main clinical manifestations, such as portal hypertension, recurrent cholangitis, cholestasis, sepsis and eventually cholangiocarcinoma. Furthermore, FLDs often associate with a spectrum of disorders affecting primarily the kidney. Among them, the autosomal recessive polycystic kidney disease (ARPKD) is the most frequent, and the renal function impairment is central in disease progression. CHF, CD/CS, and ARPKD are caused by a number of mutations in polycystic kidney hepatic disease 1 (), a gene that encodes for fibrocystin/polyductin, a protein of unclear function, but supposedly involved in planar cell polarity and other fundamental cell functions. Targeted medical therapy is not available yet and thus the current treatment aims at controlling the complications. Interventional radiology or surgical treatments, including liver transplantation, are used in selected cases.
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http://dx.doi.org/10.21037/tgh-2020-04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838530PMC
April 2021

Nanoparticles exhibiting self-regulating temperature as innovative agents for Magnetic Fluid Hyperthermia.

Nanotheranostics 2021 15;5(3):333-347. Epub 2021 Mar 15.

Department of Computer Science, University of Verona, Strada Le Grazie 15, 37134 Verona, Italy.

During the last few years, for therapeutic purposes in oncology, considerable attention has been focused on a method called magnetic fluid hyperthermia (MFH) based on local heating of tumor cells. In this paper, an innovative, promising nanomaterial, M48 composed of iron oxide-based phases has been tested. M48 shows self-regulating temperature due to the observable second order magnetic phase transition from ferromagnetic to paramagnetic state. A specific hydrophilic coating based on both citrate ions and glucose molecules allows high biocompatibility of the nanomaterial in biological matrices and its use . MFH mediator efficiency is demonstrated and in breast cancer cells and tumors, confirming excellent features for biomedical application. The temperature increase, up to the Curie temperature, gives rise to a phase transition from ferromagnetic to paramagnetic state, promoting a shortage of the r transversal relaxivity that allows a switch in the contrast in Magnetic Resonance Imaging (MRI). Combining this feature with a competitive high transversal (spin-spin) relaxivity, M48 paves the way for a new class of temperature sensitive T relaxing contrast agents. Overall, the results obtained in this study prepare for a more affordable and tunable heating mechanism preventing the damages of the surrounding healthy tissues and, at the same time, allowing monitoring of the temperature reached.
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http://dx.doi.org/10.7150/ntno.55695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7961124PMC
May 2021

Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Haemato-oncological Patients.

J Pediatr Hematol Oncol 2021 Mar 3. Epub 2021 Mar 3.

Hematopoietic Stem Cell Transplantation Unit, Department of Haemato-Oncology Child Neuropsychiatry Unit Neuroradiology Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa Department of Pediatrics, Pediatric Oncology and Haematology Unit "Lalla Seràgnoli" Child Neurology and Psychiatry Unit, St. Orsola-Malpighi Hospital, University of Bologna Neuroradiology Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna Department of Neuroscience, University of Turin, Turin, Italy.

Objectives: Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis (MTS). The aim of this study was to report clinical and neuroimaging features of MTS subsequent to PRES in haemato-oncological/stem cell transplanted children.

Materials And Methods: Among 70 children treated in 2 pediatric haemato-oncological Italian centers between 1994 and 2018 and presenting an episode of PRES, we retrospectively identified and analyzed a subgroup of patients who developed epilepsy and MTS.

Results: Nine of 70 patients (12.8%) developed post-PRES persistent seizures with magnetic resonance imaging evidence of MTS. One patient died few months after MTS diagnosis, because of hematological complications; the remaining 8 patients showed unprovoked seizures over time leading to the diagnosis of epilepsy, focal in all and drug resistant in 4. At PRES diagnosis, all patients with further evidence of epilepsy and MTS suffered of convulsive seizures, evolving into status epilepticus in 3. In 3 patients a borderline cognitive level or intellectual disability were diagnosed after the onset of epilepsy, and 2 had behavioral problems impacting their quality of life.

Conclusions: MTS and long-term focal epilepsy, along with potential cognitive and behavioral disorders, are not uncommon in older pediatric patients following PRES.
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http://dx.doi.org/10.1097/MPH.0000000000002139DOI Listing
March 2021

The Role of Imaging in COVID-19 Pneumonia Diagnosis and Management: Main Positions of the Experts, Key Imaging Features and Open Answers.

J Cardiovasc Echogr 2020 Oct 27;30(Suppl 2):S25-S30. Epub 2020 Oct 27.

Department of Radiology, Ca' Foncello General Hospital, Treviso, Italy.

Lung imaging is widely involved in facing the coronavirus disease (COVID-19) pandemic. In fact, the COVID-19 infection may lead to a rapidly evolving and potentially fatal pneumonia. Moreover, computed tomography (CT) can be more sensitive than the COVID-19 reverse transcriptase-polymerase chain reaction test, especially at the beginning of the disease. Only patients with mild features consistent with COVID-19 infection, negative COVID-19 test, or positive COVID-19 test but at low risk for disease progression should avoid imaging. However, imaging becomes mandatory if respiratory symptoms worsen. A CT pattern classification has been designed to help both radiologists and clinicians. The typical pattern of COVID-19 is depicted by multifocal, bilateral, and peripheral ground-glass opacities (with or without consolidations or crazy paving) or findings of organizing pneumonia. Moreover, CT has demonstrated a prognostic role in patients with a diagnosis of COVID-19 pneumonia. Lung ultrasounds (LUS) are an emergent tool in the diagnosis of the disease. The adoption of LUS combined to chest X-rays in COVID-19 in pneumonia diagnosis is an interesting prospect that needs to be confirmed.
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http://dx.doi.org/10.4103/jcecho.jcecho_59_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7811702PMC
October 2020

Potential biomarkers of childhood brain tumor identified by proteomics of cerebrospinal fluid from extraventricular drainage (EVD).

Sci Rep 2021 01 19;11(1):1818. Epub 2021 Jan 19.

Laboratory of Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Brain tumors are the most common solid tumors in childhood. There is the need for biomarkers of residual disease, therapy response and recurrence. Cerebrospinal fluid (CSF) is a source of brain tumor biomarkers. We analyzed the proteome of waste CSF from extraventricular drainage (EVD) from 29 children bearing different brain tumors and 17 controls needing EVD insertion for unrelated causes. 1598 and 1526 proteins were identified by liquid chromatography-coupled tandem mass spectrometry proteomics in CSF control and brain tumor patients, respectively, 263 and 191 proteins being exclusive of either condition. Bioinformatic analysis revealed promising protein biomarkers for the discrimination between control and tumor (TATA-binding protein-associated factor 15 and S100 protein B). Moreover, Thymosin beta-4 (TMSB4X) and CD109, and 14.3.3 and HSP90 alpha could discriminate among other brain tumors and low-grade gliomas plus glyoneuronal tumors/pilocytic astrocytoma, or embryonal tumors/medulloblastoma. Biomarkers were validated by ELISA assay. Our method was able to distinguish among brain tumor vs non-tumor/hemorrhagic conditions (controls) and to differentiate two large classes of brain tumors. Further prospective studies may assess whether the biomarkers proposed by our discovery approach can be identified in other bodily fluids, therefore less invasively, and are useful to guide therapy and predict recurrences.
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http://dx.doi.org/10.1038/s41598-020-80647-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815722PMC
January 2021

Correlation of multimodal F-DOPA PET and conventional MRI with treatment response and survival in children with diffuse intrinsic pontine gliomas.

Theranostics 2020 25;10(26):11881-11891. Epub 2020 Oct 25.

Nuclear Medicine Unit, Ente Ospedaliero Ospedali Galliera, Genova, Italy.

To evaluate the contribution of F-dihydroxyphenylalanine (DOPA) PET in association with conventional MRI in predicting treatment response and survival outcome of pediatric patients with diffuse intrinsic pontine gliomas (DIPGs). We retrospectively analyzed 19 children with newly diagnosed DIPGs who underwent F-DOPA PET/CT and conventional MRI within one week of each other at admission and subsequent MRI follow-up. Following co-registration and fusion of PET and MRI, F-DOPA uptake avidity and extent (PET tumor volume and uniformity) at admission, along with MRI indices including presence of ring contrast-enhancement, tumor volume at admission and at maximum response following first-line treatment, were evaluated and correlated with overall survival (OS). The association between F-DOPA uptake tumor volume at admission and MRI tumor volume following treatment was evaluated. Statistics included Wilcoxon signed-rank and Mann-Whitney U tests, Kaplan-Meier OS curve and Cox analysis. DIPGs with a F-DOPA uptake Tumor/Striatum (T/S) ratio >1 presented an OS ≤ 12 months and lower degree of tumor volume reduction following treatment ( = 0.001). On multivariate analysis, T/S ( 0.001), ring enhancement ( 0.01) and the degree of MRI tumor volume reduction ( 0.01) independently correlated with OS. In all patients, areas of increased F-DOPA uptake overlapped with regions demonstrating more prominent residual components/lack of response following treatment. F-DOPA PET provides useful information for evaluating the metabolism of DIPGs. T/S ratio is an independent predictor of outcome. F-DOPA uptake extent delineates tumoral regions with a more aggressive biological behaviour, less sensitive to first line treatment.
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http://dx.doi.org/10.7150/thno.50598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667677PMC
June 2021

RSNA Committee on International Radiology Education: 25 Years of Global Education Outreach.

Radiographics 2020 Nov-Dec;40(7):1938-1952

From the Department of Radiology, Clínica Alemana de Santiago, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago, Chile (C.F.S.); Department of Radiology, Dr José Eleuterio González University Hospital, Monterrey, Mexico (G.E.R.); Department of Radiology, University of Ibadan, University College Hospital, Ibadan, Nigeria (O.A.); Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey (M.K.); Department of Radiology, Ospedale Regionale Ca Foncello Treviso, Veneto, Italy (G.M.); and Department of Radiology, Massachusetts General Hospital, Boston, Mass (U.M.).

The Radiological Society of North America (RSNA) Committee on International Radiology Education (CIRE) has worked for the past 25 years to create academic programs oriented to the needs of international radiologists. The CIRE develops organized and structured approaches to help build one's capabilities and increase one's capacity for professional growth, which then facilitates better patient care. The authors describe the four programs that CIRE is responsible for and introduces its newest initiative, Global Learning Centers, which is planned to start in 2021. RSNA involvement in global radiology education provides opportunities for early, mid-, and late-career radiologists to participate in these programs as students or teachers. The authors describe some of the programs' success stories and invite readers to become a part of and contribute to the growth of radiologic academic endeavors globally. RSNA, 2020.
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http://dx.doi.org/10.1148/rg.2020200100DOI Listing
July 2021

Outcomes of BRAF V600E Pediatric Gliomas Treated With Targeted BRAF Inhibition.

JCO Precis Oncol 2020 20;4. Epub 2020 May 20.

Semmelweis University, Budapest, Hungary.

Purpose: Children with pediatric gliomas harboring a BRAF V600E mutation have poor outcomes with current chemoradiotherapy strategies. Our aim was to study the role of targeted BRAF inhibition in these tumors.

Patients And Methods: We collected clinical, imaging, molecular, and outcome information from patients with BRAF V600E-mutated glioma treated with BRAF inhibition across 29 centers from multiple countries.

Results: Sixty-seven patients were treated with BRAF inhibition (pediatric low-grade gliomas [PLGGs], n = 56; pediatric high-grade gliomas [PHGGs], n = 11) for up to 5.6 years. Objective responses were observed in 80% of PLGGs, compared with 28% observed with conventional chemotherapy ( < .001). These responses were rapid (median, 4 months) and sustained in 86% of tumors up to 5 years while receiving therapy. After discontinuation of BRAF inhibition, 76.5% (13 of 17) of patients with PLGG experienced rapid progression (median, 2.3 months). However, upon rechallenge with BRAF inhibition, 90% achieved an objective response. Poor prognostic factors in conventional therapies, such as concomitant homozygous deletion of , were not associated with lack of response to BRAF inhibition. In contrast, only 36% of those with PHGG responded to BRAF inhibition, with all but one tumor progressing within 18 months. In PLGG, responses translated to 3-year progression-free survival of 49.6% (95% CI, 35.3% to 69.5%) versus 29.8% (95% CI, 20% to 44.4%) for BRAF inhibition versus chemotherapy, respectively ( = .02).

Conclusion: Use of BRAF inhibition results in robust and durable responses in BRAF V600E-mutated PLGG. Prospective studies are required to determine long-term survival and functional outcomes with BRAF inhibitor therapy in childhood gliomas.
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http://dx.doi.org/10.1200/PO.19.00298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446502PMC
May 2020

Placental Pathology Findings and the Risk of Intraventricular and Cerebellar Hemorrhage in Preterm Neonates.

Front Neurol 2020 14;11:761. Epub 2020 Aug 14.

Neonatal Intensive Care Unit, Department Mother and Child, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Placental pathology as a predisposing factor to intraventricular hemorrhage remains a matter of debate, and its contribution to cerebellar hemorrhage development is still largely unexplored. Our study aimed to assess placental and perinatal risk factors for intraventricular and cerebellar hemorrhages in preterm infants. This retrospective cohort study included very low-birth weight infants born at the Gaslini Children's Hospital between January 2012 and October 2016 who underwent brain magnetic resonance with susceptibility-weighted imaging at term-equivalent age and whose placenta was analyzed according to the Amsterdam Placental Workshop Group Consensus Statement. Of the 286 neonates included, 68 (23.8%) had intraventricular hemorrhage (all grades) and 48 (16.8%) had a cerebellar hemorrhage (all grades). After correction for gestational age, chorioamnionitis involving the maternal side of the placenta was found to be an independent risk factor for developing intraventricular hemorrhage, whereas there was no association between maternal and fetal inflammatory response and cerebellar hemorrhage. Among perinatal factors, we found that intraventricular hemorrhage was significantly associated with cerebellar hemorrhage (odds ratio [OR], 8.14), mechanical ventilation within the first 72 h (OR, 2.67), and patent ductus arteriosus requiring treatment (OR, 2.6), whereas cesarean section emerged as a protective factor (OR, 0.26). Inotropic support within 72 h after birth (OR, 5.24) and intraventricular hemorrhage (OR, 6.38) were independent risk factors for cerebellar hemorrhage, whereas higher gestational age was a protective factor (OR, 0.76). Assessing placental pathology may help in understanding mechanisms leading to intraventricular hemorrhage, although its possible role in predicting cerebellar bleeding needs further evaluation.
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http://dx.doi.org/10.3389/fneur.2020.00761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456995PMC
August 2020

Endocrine Outcomes In Central Diabetes Insipidus: the Predictive Value of Neuroimaging "Mismatch Pattern".

J Clin Endocrinol Metab 2020 11;105(11)

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

Context: The etiology of central diabetes insipidus (CDI) in children is often unknown. Clinical and radiological features at disease onset do not allow discrimination between idiopathic forms and other conditions or to predict anterior pituitary dysfunction.

Objective: To evaluate the evolution of pituitary stalk (PS) thickening and the pattern of contrast-enhancement in relation with etiological diagnosis and pituitary function.

Methods: We enrolled 39 children with CDI, 29 idiopathic and 10 with Langerhans cell histiocytosis (LCH). Brain magnetic resonance images taken at admission and during follow-up (332 studies) were examined, focusing on PS thickness, contrast-enhancement pattern, and pituitary gland size; T2-DRIVE and postcontrast T1-weighted images were analyzed.

Results: Seventeen of 29 patients (58.6%) with idiopathic CDI displayed "mismatch pattern," consisting in a discrepancy between PS thickness in T2-DRIVE and postcontrast T1-weighted images; neuroimaging findings became stable after its appearance, while "mismatch" appeared in LCH patients after chemotherapy. Patients with larger PS displayed mismatch more frequently (P = 0.003); in these patients, reduction of proximal and middle PS size was documented over time (P = 0.045 and P = 0.006). The pituitary gland was smaller in patients with mismatch (P < 0.0001). Patients with mismatch presented more frequently with at least one pituitary hormone defect, more often growth hormone deficiency (P = 0.033).

Conclusions: The PS mismatch pattern characterizes patients with CDI, reduced pituitary gland size, and anterior pituitary dysfunction. The association of mismatch pattern with specific underlying conditions needs further investigation. As patients with mismatch show stabilization of PS size, we assume a prognostic role of this peculiar pattern, which could be used to lead follow-up.
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http://dx.doi.org/10.1210/clinem/dgaa540DOI Listing
November 2020

Central diabetes insipidus in children: Diagnosis and management.

Best Pract Res Clin Endocrinol Metab 2020 09 29;34(5):101440. Epub 2020 Jun 29.

Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy. Electronic address:

Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of conditions (genetic, congenital, inflammatory, neoplastic, traumatic) that arise mainly from the hypothalamus. The differential diagnosis between diseases presenting with polyuria and polydipsia is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating the sellar-suprasellar region in CDI. Pituitary stalk size at presentation is variable and can change over time, depending on the underlying condition, and other brain areas or other organs - in specific diseases - may become involved during follow up. An early diagnosis and treatment are preferable in order to avoid central nervous system damage and the risk of dissemination of germ cell tumor, or progression of Langerhans Cell Histiocytosis, and in order to start treatment of additional pituitary defects without further delay. This review focuses on current diagnostic work-up and on the role of neuroimaging in the differential diagnosis of CDI in children and adolescents. It provides an update on the best approach for diagnosis - including novel biochemical markers such as copeptin - treatment and follow up of children and adolescents with CDI; it also describes the best approach to challenging situations such as post-surgical patients, adipsic patients, patients undergoing chemotherapy and/or in critical care.
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http://dx.doi.org/10.1016/j.beem.2020.101440DOI Listing
September 2020

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

Front Oncol 2020 3;10:795. Epub 2020 Jun 3.

Neuroradiology Unit, IRCCS Istituto G. Gaslini, Genova, Italy.

Pediatric neurofibromatosis type 1 (NF1) patients rarely develop aggressive central nervous system tumors. Among high-grade gliomas (HGGs), histone mutant diffuse midline gliomas (DMGs H3 K27M-mutant) have exceptionally been reported. The aim of this retrospectives single-center study was to compare the clinical behavior of DMGs H3 K27M-mutant and non-histone mutant midline HGGs in NF1 vs. non-syndromic children and to report imaging features of NF1 HGGs. We conducted a retrospective review of cerebral DMGs H3 K27M-mutant or non-histone mutant HGGs in 18 patients with or without NF1 followed at our institution between 2010 and 2018. Differences in outcomes, notably progression-free survival (PFS) and overall survival (OS), were evaluated. Two patients were identified with genetically confirmed diagnosis of NF1 and cerebral HGGs (one DMG H3 K27M-mutant and one histone wild type). Both subjects presented with midline mass lesions with imaging features of aggressive biological activity on advanced MRI or amino-acid PET. During the same time period, 16 non-NF1 patients (11 subjects with DMGs H3 K27M-mutant and 5 with non-histone mutant midline HGGs) were treated at our institution. The two patients with NF1 and HGGs presented a PFS of 3 months and an OS of 5 and 7 months. Median PFS and OS of children without NF1 were respectively 6 and 10 months in DMGs H3 K27M-mutant, and 6 and 11 months in H3 K27M wild-type tumors. Seventy-five percent of subjects with non-NF1 HGGs presented a PFS >4 months compared to 0% in NF1 patients. The 8-month OS of patients with non-NF1 HGGs was 81% compared to 0% in NF1 patients. Cerebral HGGs arising in midline structures rarely occur in pediatric patients with NF1 and present with extremely poor prognosis, worse than HGGs developing in non-NF1 patients, independent of the presence or absence of H3 K27M mutation. Imaging features of aggressive biological activity on advanced MRI or amino-acid PET imaging suggest prompt neuropathological and molecular investigations.
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http://dx.doi.org/10.3389/fonc.2020.00795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283930PMC
June 2020

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Hum Mol Genet 2020 08;29(13):2250-2260

Department of Genetics and Genome Biology, University of LE1 7RH Leicester, Leicester, UK.

We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that were visible at the MRI. Autozygome-based analysis showed that these children shared a 4.76 Mb region of homozygosity on chromosome 1, with an identical haplotype. Nonetheless, whole-exome sequencing failed to identify any shared rare coding variants, in this region or elsewhere. We then determined the transcriptome of patients' fibroblasts by RNA sequencing, followed by additional whole-genome sequencing experiments. Gene expression analysis revealed a 4-fold downregulation of the gene NMNAT1, residing indeed in the shared autozygous interval. Short- and long-read whole-genome sequencing highlighted a duplication involving 2 out of the 5 exons of NMNAT1 main isoform (NM_022787.3), leading to the production of aberrant mRNAs. Pathogenic variants in NMNAT1 have been previously shown to cause non-syndromic Leber congenital amaurosis (LCA). However, no patient with null biallelic mutations has ever been described, and murine Nmnat1 knockouts show embryonic lethality, indicating that complete absence of NMNAT1 activity is probably not compatible with life. The rearrangement found in our cases, presumably causing a strong but not complete reduction of enzymatic activity, may therefore result in an intermediate syndromic phenotype with respect to LCA and lethality.
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http://dx.doi.org/10.1093/hmg/ddaa112DOI Listing
August 2020

Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.

Neuroradiology 2020 Aug;62(8):1017

Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, via Gaslini 5, 16147, Genoa, Italy.

This article was published online with incorrect alignment in Table 4. Column and rows are out of order. The correct Table 4 is presented here. The original article has been corrected.
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http://dx.doi.org/10.1007/s00234-020-02468-yDOI Listing
August 2020

Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.

Neuroradiology 2020 Aug 15;62(8):1003-1015. Epub 2020 May 15.

Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, via Gaslini 5, 16147, Genoa, Italy.

Purpose: In moyamoya vasculopathy, prolonged arterial transit time may increase the arterial spin labeling (ASL) signal heterogeneity, which can be quantitatively expressed by the spatial coefficient of variation of ASL-CBF (ASL-sCoV). The aim was to compare the accuracy of ASL-sCoV and ASL-CBF with dynamic susceptibility contrast (DSC)-CBF and time-to-peak (DSC-TTP) in the evaluation of perfusion changes and clinical outcome after encephalo-duro-arterio-myo-synangiosis (EDAMS) in pediatric moyamoya patients.

Methods: A total of 37 children with moyamoya vasculopathy (mean age 6.31 years (1.12-15.42)) underwent ASL and DSC perfusion imaging at 3T before and up to 24 months after EDAMS. Mean DSC-CBF, mean DSC-TTP, mean ASL-CBF, and ASL-sCoV were calculated in middle cerebral artery territories. Generalized linear model analyses were used to evaluate temporal variations of postoperative perfusion changes and to compare these variations between patients developing valid pial collateralization and those without angiographic improvement. Relationship between perfusion parameters and clinical outcome after surgery was tested using multivariate regression analysis.

Results: Significant reduction was observed after EDAMS for ASL-sCoV (P = .002; eta-squared (η) = 0.247) and DSC-TTP (P < .001; η = 0.415), whereas only a trend of increase was observed for DSC-CBF and ASL-CBF, with larger discrepancy before and 6 months after surgery. At last follow-up, children developing pial collateralization showed lower absolute ASL-sCoV (P = .002 Cohen's d = 0.84) and DSC-TTP (P = .027; Cohen's d = 0.64) and higher DSC-CBF (P = .002; Cohen's d = - 0.55) compared with those without vascular improvement. Low preoperative and early post-surgical ASL-sCoV predicted better long-term neurological outcome (P < .001; ß = - 0.631).

Conclusions: ASL-sCoV may contribute to predict surgical outcomes in pediatric moyamoya patients undergoing EDAMS.
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http://dx.doi.org/10.1007/s00234-020-02446-4DOI Listing
August 2020

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.

Neuropediatrics 2020 12 11;51(6):425-429. Epub 2020 May 11.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.

pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy. Here we present a case of a patient with a complex clinical picture characterized by bilateral optic nerve atrophy, horizontal nystagmus, myopia, mild intellectual disability, generalized chorea, isolated small subependymal heterotopia, and asynchronous self-resolving midbrain MRI (magnetic resonance imaging) lesions. By using massive gene sequencing, we identified in this patient the c.308G > A (p.Arg103His) homozygous pathogenic variant in the gene. Complex movement disorders and relapsing-remitting neuroradiological lesions have not been previously reported in this condition. Our case expands the clinical spectrum of OPA10 syndrome and opens new opportunities for the molecular diagnosis.
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http://dx.doi.org/10.1055/s-0040-1708539DOI Listing
December 2020

White matter and cerebellar involvement in alternating hemiplegia of childhood.

J Neurol 2020 May 16;267(5):1300-1311. Epub 2020 Jan 16.

Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, via G. Gaslini 5, 16147, Genova, Italy.

Objective: To determine whether brain volumetric and white matter microstructural changes are present and correlate with neurological impairment in subjects with alternating hemiplegia of childhood (AHC).

Methods: In this prospective single-center study, 12 AHC subjects (mean age 22.9 years) and 24 controls were studied with 3DT1-weighted MR imaging and high angular resolution diffusion imaging at 3T. Data obtained with voxel-based morphometry and tract-based spatial statistics were correlated with motor impairment using the International Cooperative Ataxia Rating Scale (ICARS) and Movement and Disability sub-scales of Burke-Fahn-Marsden Dystonia Rating Scale (BFMMS and BFMDS).

Results: Compared to healthy controls, AHC subjects showed lower total brain volume (P < 0.001) and white matter volume (P = 0.002), with reduced clusters of white matter in frontal and parietal regions (P < 0.001). No significant regional differences were found in cortical or subcortical grey matter volumes. Lower cerebellar subvolumes correlated with worse ataxic symptoms and global motor impairment in AHC group (P < 0.001). Increased mean and radial diffusivity values were found in the corpus callosum, corticospinal tracts, superior and inferior longitudinal fasciculi, subcortical frontotemporal white matter, internal and external capsules, and optic radiations (P < 0.001). These diffusion scalar changes correlated with higher ICARS and BFMDS scores (P < 0.001).

Interpretation: AHC subjects showed prevalent white matter involvement, with reduced volume in several cerebral and cerebellar regions associated with widespread microstructural changes reflecting secondary myelin injury rather than axonal loss. Conversely, no specific pattern of grey matter atrophy emerged. Lower cerebellar volumes, correlating with severity of neurological manifestations, seems related to disrupted developmental rather than neurodegenerative processes.
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http://dx.doi.org/10.1007/s00415-020-09698-3DOI Listing
May 2020

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.

Mult Scler Relat Disord 2019 Dec 24;39:101917. Epub 2019 Dec 24.

Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department, IRCCS Istituto Giannina Gaslini, Genova, Italy. Electronic address:

Background: recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (ab) related optic neuritis (ON) tend to have characteristics that differ from seronegative ones. The aim of our study was to investigate the clinical characteristics of pediatric anti-MOG ON by comparing anti MOG-ab-seropositive and seronegative patients with ON.

Methods: in this retrospective Italian multicentre study, participants were identified by chart review of patients evaluated for acquired demyelinating syndromes of the central nervous system (over the period 2009-2019). We selected patients presenting with ON as their first demyelinating event. Inclusion criteria were age < 18 years at symptoms onset; presentation consistent with ON; negativity of anti-aquaporin 4 antibodies (AQP4). Only patients who were tested for MOG-IgG1-ab with a live cell-based assay were included.

Results: 22 patients (10 MOG-ab-positive and 12 MOG-ab-negative) were included. Fundus oculi examination at onset showed disc swelling in 9/10 in the MOG-ab-positive cohort and 2/10 in the seronegative group (P = 0.002). Retinal Fiber Nerve Layer (RFNL) thickness measured by Spectral Domain Optical Coherence Tomography (S-OCT) was increased in the 5/5 MOG-ab-positive patients tested and was normal or reduced in the seronegative patients tested (4/4 patients) (P = 0.024). Visual acuity impairment at onset did not differ significantly between the two groups, but the MOG-ab-positive cohort showed better recovery at follow-up both regarding visual acuity (P = 0.025) and expanded disability status scale (EDSS) (P = 0.013). A final diagnosis of MS was frequent among seronegative patients (6/12, 50%), whereas none of the MOG-ab-positive group received a diagnosis of MS (P = 0.015). Clinical relapse frequency was low in both groups: 2/10 MOG-ab-positive and 2/12 seronegative cases relapsed, with a median follow up of 25 months.

Conclusion: optic disc swelling and increased RFNL at baseline are strongly associated with MOG-ab positivity. MOG-ab-positive patients with ON showed better recovery compared to the seronegative ones. The relapse rate was low and did not differ among the two groups.
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http://dx.doi.org/10.1016/j.msard.2019.101917DOI Listing
December 2019

Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.

Pediatr Neurol 2020 02 19;103:61-64. Epub 2019 Oct 19.

Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genova, Italy. Electronic address:

Background: Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammatory autoimmune disease affecting adults and children. The use of first- and second-line immunotherapies is supported. Recent reports suggest the efficacy of bortezomib in severe anti-N-methyl-d-aspartate encephalitis in adult patients not responsive to second-line treatment; there are no data about pediatric patients.

Patient Description: We describe an eight-year-old child with anti-N-methyl-d-aspartate encephalitis not responsive to first- and second-line treatments who experienced marked clinical improvement after bortezomib administration.

Discussion: Bortezomib is a selective and reversible inhibitor of the 26S proteasome, which is used to treat oncologic and rare autoimmune disorders in pediatric patients. As observed in adult patients, bortezomib administration induced anti-N-methyl-d-aspartate antibody titer decline and clinical improvement with an acceptable risk profile.

Conclusion: This is the first report of the use of bortezomib in children with anti-N-methyl-d-aspartate encephalitis; it could be a useful therapeutic option in children with refractory anti-N-methyl-d-aspartate encephalitis.
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http://dx.doi.org/10.1016/j.pediatrneurol.2019.09.004DOI Listing
February 2020
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