Publications by authors named "Gianluca Marucci"

145 Publications

Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.

Brain Dev 2021 Jan 20. Epub 2021 Jan 20.

Neonatal and Pediatric Intensive Care Unit, Department of Critical Care, IRCCS Giannina Gaslini, Genova, Italy.

Background: Pathogenic variants in the dynamin 1 like gene are related to abnormal mitochondrial dynamics and distributions and are associated to variable clinical phenotypes. A few patients harboring the p.Arg403Cys missense variant appears to be different from the classical, more severe phenotypes, showing sudden onset of drug resistant seizures after a previously normal or slightly delayed development.

Case Report: We report on a boy with abrupt onset of focal status and coma at the age of 13, initially treated as autoimmune encephalitis, with final diagnosis of de novo missense p.Arg403Cys variant in the DNM1L gene.

Discussion: We compare his clinical, electrophysiological, biochemical, neuroradiological and histopathological picture to the rare cases reported to date and provide diagnostic clues that can help clinicians in differentiate p.Arg403Cys-related phenotype from that of immune-mediated encephalopathies.

Conclusion: The clinical picture related to p.Arg403Cys mutations should be considered alongside acquired pathologies in the differential diagnosis of young patients with focal refractory epilepsy and encephalopathy, also occurring during late childhood or adolescence. Prompt genetic testing allows to avoid unnecessary treatments and procedures and to better define the prognosis and management strategies.
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http://dx.doi.org/10.1016/j.braindev.2020.12.017DOI Listing
January 2021

Trichinella britovi infection in wild boar in Portugal.

Zoonoses Public Health 2021 03 17;68(2):103-109. Epub 2021 Jan 17.

Department of Infectious Diseases, Istituto Superiore di Sanità, Rome, Italy.

Trichinella spp. infection occurs when a host ingests muscle tissue containing infective larvae (L1 stage). Wild boar meat and its products represent the second largest source of human trichinellosis worldwide. For this reason, and since that in Portugal wild boar is the most hunted large game specie, the laboratory of Technology, Quality and Food Safety (TQFS) from the University of Trás-os-Montes e Alto Douro created a free service to test wild boar meat for Trichinella spp. From December 2015 to February 2020, and 857 samples were analysed. From those, the majority (719/857, 83.9%) were tested after October 2018 when a specific national legislation came into force, demanding that meat from wild boar hunted in a defined risk area should be tested for Trichinella spp. Under TQFS laboratory activity, in January 2020, a positive case was identified, being the first molecular confirmation of Trichinella britovi infection in wild boar in Portugal. Additionally to this activity, in 2019, a questionnaire was submitted to 100 hunters to acquire information about wild boar meat usage and consumption behaviours. From the total respondents, 86% declared they intended to use meat for private consumption. Of those, 93% also stated that have sold part of the meat and/or homemade sausages, the majority (80%) without prior testing for Trichinella spp., as required by EU Regulation. These results alert the hunters to a risk for human infection, which could be extended to outside the hunter's household. Given the actual epidemiological situation, it should be emphasized that testing for Trichinella spp. in wild boar meat should be maintained and reinforced, particularly in the risk area. The results presented in this report strongly support the importance of specific national legislation to mitigate the risk of trichinellosis due to consumption of non-tested wild boar meat.
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http://dx.doi.org/10.1111/zph.12800DOI Listing
March 2021

Molecular Methods for the Detection of Oocysts in Fresh Produce: An Extensive Review.

Microorganisms 2021 Jan 13;9(1). Epub 2021 Jan 13.

Unit of Foodborne and Neglected Parasitic Diseases, European Union Reference Laboratory for Parasites, Department of Infectious Diseases, Istituto Superiore di Sanità, viale Regina Elena 299, 00161 Rome, Italy.

Human infection with the important zoonotic foodborne pathogen has been associated with unwashed raw fresh produce consumption. The lack of a standardised detection method limits the estimation of fresh produce as an infection source. To support method development and standardisation, an extensive literature review and a multi-attribute assessment were performed to analyse the key aspects of published methods for the detection of oocyst contamination in fresh produce. Seventy-seven published studies were included, with 14 focusing on fresh produce. Information gathered from expert laboratories via an online questionnaire were also included. Our findings show that procedures for oocyst recovery from fresh produce mostly involved sample washing and pelleting of the washing eluate by centrifugation, although washing procedures and buffers varied. DNA extraction procedures including mechanical or thermal shocks were identified as necessary steps to break the robust oocyst wall. The most suitable DNA detection protocols rely on qPCR, mostly targeting the gene or the bp repetitive element. When reported, validation data for the different detection methods were not comparable and none of the methods were supported by an interlaboratory comparative study. The results of this review will pave the way for an ongoing development of a widely applicable standard operating procedure.
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http://dx.doi.org/10.3390/microorganisms9010167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828537PMC
January 2021

spp. in wild boar () populations in Croatia during an eight-year study (2010-2017).

One Health 2020 Dec 29;11:100172. Epub 2020 Sep 29.

Croatian Veterinary Institute, Veterinary Department Vinkovci, J. Kozarca 24, 32100 Vinkovci, Croatia.

Wild animals represent a constant source of spp. infections for domestic animals and humans. To date, four species of have been isolated in wild boar populations in Europe: , , and , in addition to several mixed infection types and one hybrid formation between and . Meanwhile, insufficiently thermally processed wild boar meat has been reported to be a source of trichinellosis in humans in several European countries. In Croatia, there have been no reported or proven cases of trichinellosis caused by wild boar meat consumption. The aim of this study was to obtain data on the prevalence of species present in Croatia and to anticipated the potential risk of infection for humans in specific Croatian regions based on information obtained over an eight-year surveillance period. A veterinary inspection of wild boar carcasses for larvae in Croatia has been mandatory since 1989, and the artificial digestion method was introduced as a compulsory test for wild boar samples in 2008. Based on the official data submitted to the Ministry of Agriculture, Directorate of Veterinary Services, in the period 2010-2017, 303 of 183,184 (0.17%) wild boar meat samples tested positive for spp. Infected wild boar were found in 18 of 21 counties. Of these positive samples, 85 were submitted by the authorised veterinary inspectors to the National Reference Laboratory for further examination. The intensity of infection in muscle samples was 0.04-152.66 (mean: 23,37) larvae per gram, and species were identified as , , and  + . Genetic analysis of isolates demonstrated their belonging to the Palaearctic population.
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http://dx.doi.org/10.1016/j.onehlt.2020.100172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772622PMC
December 2020

The effect of ozone injection within a common peroneal nerve schwannoma: A mistreatment due to a misdiagnosis.

Surg Neurol Int 2020 4;11:413. Epub 2020 Dec 4.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Background: Peripheral schwannomas can be misdiagnosed or mistreated as they can mimic other subcutaneous lesions, leading to wrong diagnosis and, therefore, to improper treatment.

Case Description: A 23-years-old male presented a painful growing nodule at the left popliteal fossa, with distally irradiated pain. A first magnetic resonance imaging depicted a heterogeneous lesion between common peroneal and sural nerves but, surprisingly, the patient was submitted to perilesional injection of ozone-oxygen mixture, causing the onset of intense neuropathic pain. A second MRI showed a morphological change of tumor characteristics. He finally underwent surgery but, intraoperatively, inter-fascicular fibrous adherences were noticed, making the tumor removal more difficult and riskier. The histopathological diagnosis was of schwannoma with areas of foreign body reaction.

Conclusion: The injection of ozone or other substances within a subcutaneous swelling should be avoided, before a complete imaging assessment; because of such swelling could be a peripheral nerve schwannoma. The correct assessment of a lesion of the limbs determining radiating pain should be carefully demanded to a thorough history, clinical examination, and appropriate imaging technique. To avoid incorrect management, the treatment of such tumors should be performed in the first place by dedicated equips with proven expertise in this field.
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http://dx.doi.org/10.25259/SNI_296_2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749957PMC
December 2020

Mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE): Neurophysiological fingerprints of a new pathological entity.

Clin Neurophysiol 2021 Jan 21;132(1):154-156. Epub 2020 Nov 21.

Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.11.008DOI Listing
January 2021

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Brain Sci 2020 Oct 26;10(11). Epub 2020 Oct 26.

Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.

Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin () mutations. Sural nerve biopsy was performed according to standard protocols. Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.
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http://dx.doi.org/10.3390/brainsci10110780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692609PMC
October 2020

Occurrence of Alaria alata in wild boars (Sus scrofa) in Poland and detection of genetic variability between isolates.

Parasitol Res 2021 Jan 26;120(1):83-91. Epub 2020 Oct 26.

National Veterinary Research Institute in Puławy, Al. Partyzantów 57, Puławy, Poland.

Alaria alata is a trematode included among several emerging zoonotic parasites. The mesocercarial larval stage of A. alata named Distomum musculorum suis (DMS) may potentially be infective for humans. In the past, DMS was often observed in wild boar meat during the official Trichinella inspection by artificial digestion before a more specific and effective detection method, the A. alata mesocercariae migration technique (AMT), was introduced. In the present study, the AMT method was used to screen 3589 tissue samples collected from wild boars hunted in Poland during the 2015-2019 period. The survey mainly focused on the southern part of Poland with the majority of samples coming from Małopolskie, Świętokrzyskie, and Dolnoślaskie provinces; samples from ten additional provinces were also included. The total prevalence was 4.2% with mean abundance of 4.7 DMS. Occurrence was dependent upon environmental conditions (i.e., wetland habitats and water reservoirs) rather than on sex of the host or season in which they were hunted. The recovered trematodes were identified as Alaria spp. according to their morphological features. Molecular analysis of 18S rDNA and COI genes confirmed the species identification to be A. alata and documented genetic variability among the isolates.
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http://dx.doi.org/10.1007/s00436-020-06914-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846538PMC
January 2021

Differences in larval survival and IgG response patterns in long-lasting infections by Trichinella spiralis, Trichinella britovi and Trichinella pseudospiralis in pigs.

Parasit Vectors 2020 Oct 16;13(1):520. Epub 2020 Oct 16.

Department of Infectious Diseases, Istituto Superiore di Sanità, viale Regina Elena 299, 00161, Rome, Italy.

Background: Domesticated and wild swine play an important role as reservoir hosts of Trichinella spp. and a source of infection for humans. Little is known about the survival of Trichinella larvae in muscles and the duration of anti-Trichinella antibodies in pigs with long-lasting infections.

Methods: Sixty pigs were divided into three groups of 20 animals and infected with 10,000 larvae of Trichinella spiralis, Trichinella britovi or Trichinella pseudospiralis. Four pigs from each group were sacrificed at 2, 6, 12, 18 and 24 months post-infection (p.i.) and the number of larvae per gram (LPG) of muscles was calculated. Serum samples were tested by ELISA and western blot using excretory/secretory (ES) and crude antigens.

Results: Trichinella spiralis showed the highest infectivity and immunogenicity in pigs and larvae survived in pig muscles for up to 2 years p.i. In these pigs, the IgG level significantly increased at 30 days p.i. and reached a peak at about 60 days p.i., remaining stable until the end of the experiment. In T. britovi-infected pigs, LPG was about 70 times lower than for T. spiralis at 2 months p.i. and only very few infecting larvae were detected at 6 months p.i., whereas no larvae were detected at 12, 18 and 24 months p.i. At 6 months p.i., degenerated/calcified larvae and cysts were detected in the muscles by trichinoscopy and histology. The IgG pattern showed by T. britovi-infected pigs was similar to that of T. spiralis-infected pigs, although seroconversion occurred some days later. The larval burden of T. pseudospiralis was slightly greater than for T. britovi at 2 months p.i., but no larvae were detected at 6 and 12 months p.i. In T. pseudospiralis-infected pigs, seroconversion occurred slowly, as in T. britovi-infected pigs. The IgG level showed a significant drop at 6 months p.i. and declining to the cut-off value at 12 months p.i.

Conclusions: The longer survival of T. spiralis in pigs in comparison with the other two species highlights its exceptional dissemination potential. These results provide an explanation of the controversial data collected by parasitological and serological tools in the course of epidemiological investigations.
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http://dx.doi.org/10.1186/s13071-020-04394-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566126PMC
October 2020

Parkinsonism and Nigrostriatal Damage Secondary to CSF1R-Related Primary Microgliopathy.

Mov Disord 2020 12 3;35(12):2360-2362. Epub 2020 Oct 3.

Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mds.28290DOI Listing
December 2020

Histopathological grading affects survival in patients with IDH-mutant grade II and grade III diffuse gliomas.

Eur J Cancer 2020 09 26;137:10-17. Epub 2020 Jul 26.

Department of Medical Oncology, AUSL / IRCCS Institute of Neurological Sciences, Bologna, Italy.

Background: Diffuse grade II and grade III gliomas are actually classified in accordance with the presence of isocitrate dehydrogenase mutation (IDH-mut) and the deletion of both 1p and 19q chromosome arms (1p/19q codel). The role of tumour grading as independent prognostic factor in these group of tumours remains matter of debate. The aim of this study was to determine if grade is an independent prognostic factor and not somehow associated to IDH mutation and 1p/19q status of the tumour.

Methods: We analysed 399 consecutive patients with newly diagnosed, histologically proven World Health Organisation (WHO) 2016 grade II or grade III IDH-mut gliomas, assessed by polymerase chain reaction, immunohistochemistry or next-generation sequencing (NGS).

Results: The analysis included 399 patients with grade II (n = 250, 62.7%) or grade III (n = 149, 37.3%) diffuse gliomas. Median follow-up time was 105.3 months. Median survival was 148.1 months. In multivariate analysis, grade II (hazard ratio [HR] = 0.342, 95% confidence interval [CI]: 0.221-0.531; P < 0.001) and 1p/19q codeletion (HR = 0.440, 95% CI: 0.290-0.668; P < 0.001) were independently associated with a lower risk for death. The difference in survival remained significant (p = 0.006 in astrocytomas, p = 0.014 in oligodendrogliomas) when adjusted for histological subtype. Residual disease after surgery (or biopsy) negatively affected survival (HR: 2.151, 95% CI: 1.375-3.367, P = 0.001). Post-surgical treatment with radiotherapy + adjuvant chemotherapy improved survival compared with follow-up and other treatments (HR: 0.316, 95% CI: 0.156-0.641, P = 0.001).

Conclusions: In our study, histopathological grade still affects survival in IDH-mutant WHO grade II and III diffuse gliomas. This effect appears to be independent from molecular features, extension of surgical resection and post-surgical treatments. Therefore, physicians should continue to take into account tumour grade, along their molecular characteristics, for a better clinical and therapeutic management of the patients.
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http://dx.doi.org/10.1016/j.ejca.2020.06.018DOI Listing
September 2020

Non-imported malaria in Italy: paradigmatic approaches and public health implications following an unusual cluster of cases in 2017.

BMC Public Health 2020 Jun 5;20(1):857. Epub 2020 Jun 5.

Dipartimento Malattie Infettive, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.

Background: The European region achieved interruption of malaria transmission during the 1970s. Since then, malaria control programs were replaced by surveillance systems in order to prevent possible re-emergence of this disease. Sporadic cases of non-imported malaria were recorded in several European countries in the past decade and locally transmitted outbreaks of Plasmodium vivax, most probably supported by Anopheles sacharovi, have been repeatedly reported from Greece since 2009. The possibility of locally-transmitted malaria has been extensively studied in Italy where the former malaria vector An. labranchiae survived the control campaign which led to malaria elimination. In this study, we present paradigmatic cases that occurred during a 2017 unusual cluster, which caused strong concern in public opinion and were carefully investigated after the implementation of the updated malaria surveillance system.

Methods: For suspected locally-transmitted malaria cases, alerts to Ministry of Health (MoH) and the National Institute of Health (ISS) were mandated by the Local Health Services (LHS). Epidemiological investigations on the transmission modes and the identification of possible infection's source were carried out by LHS, MoH and ISS. Entomological investigations were implemented locally for all suspected locally-transmitted cases that occurred in periods suitable to anopheline activity. Molecular diagnosis by nested-PCR for the five human Plasmodium species was performed to support microscopic diagnosis. In addition, genotyping of P. falciparum isolate was carried out to investigate putative sources of infection and transmission modalities.

Results: In 2017, a cluster of seven non-imported cases was recorded from August through October. Among them, P. ovale curtisi was responsible of one case whereas six cases were caused by P. falciparum. Two cases were proved to be nosocomial while the other five were recorded as cryptic at the end of epidemiological investigations.

Conclusions: The epidemiological evidence shows that the locally acquired events are sporadic, often remain unresolved and classified as cryptic ones despite investigative efforts. The "cluster" of seven non-imported cases that occurred in 2017 in different regions of Italy therefore represents a conscious alert that should lead us to maintain a constant level of surveillance in a former malaria endemic country.
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http://dx.doi.org/10.1186/s12889-020-08748-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275312PMC
June 2020

miR-196B-5P and miR-200B-3P Are Differentially Expressed in Medulloblastomas of Adults and Children.

Diagnostics (Basel) 2020 Apr 29;10(5). Epub 2020 Apr 29.

Department of Pharmacy and Biotechnology (FaBiT), Molecular Diagnostic Unit AUSL of Bologna, University of Bologna, 40138 Bologna, Italy.

Medulloblastoma is a highly aggressive brain tumor that typically affects children, while in adults it represents ~1% of all brain tumors. Little is known about microRNA expression profile of the rare adult medulloblastoma. The main aim of this study was to identify peculiar differences in microRNA expression between childhood and adult medulloblastoma. Medulloblastomas were profiled for microRNA expression using the Exiqon Human miRNome panel (I + II) analyzing 752 microRNAs in a training set of six adult and six childhood cases. Then, the most differentially expressed microRNAs were validated in a total of 21 adult and 19 childhood cases. Eight microRNAs (miR-196b-5p, miR-183-5p, miR-200b-3p, miR-196a-5p, miR-193a-3p, miR-29c-3p, miR-33b-5p, and miR-200a-3p) were differentially expressed in medulloblastoma of adults and children. Analysis of the validation set confirmed that miR-196b-5p and miR-200b-3p were significantly overexpressed in medulloblastoma of adults as compared with those of children. We followed an in silico approach to investigate direct targets and the pathways involved for the two microRNAs (miR-196b and miR-200b) differently expressed between adult and childhood medulloblastoma. Adult and childhood medulloblastoma have different miRNA expression profiles. In particular, the differential dysregulation of miR-196b-5p and miR-200b-3p characterizes the miRNA profile of adult medulloblastoma and suggests potential targets for novel diagnostic, prognostic, or therapeutic strategies.
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http://dx.doi.org/10.3390/diagnostics10050265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277606PMC
April 2020

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment.

Neuropediatrics 2019 10 29;50(5):334-335. Epub 2019 May 29.

Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.

Spinal Tuberculosis in children is uncommon, even more so in cases of involvement of posterior vertebral elements, and its diagnosis is often delayed. Here we report the case of a young female presenting neuroradiological features and clinical symptoms suspicious for malignant tumor. Histological examination of biopsy specimen evidenced a Pott's disease. We highlight the importance of suspecting this disorder in children with both aspecific systemic and neurological symptoms, in order to reach a timely diagnosis for appropriate and targeted intervention, avoiding the risk of overtreatment and malpractice claims.
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http://dx.doi.org/10.1055/s-0039-1691833DOI Listing
October 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

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.

Neurol Sci 2019 Jun 26;40(6):1267-1269. Epub 2019 Jan 26.

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

More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy. We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.
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http://dx.doi.org/10.1007/s10072-019-3716-zDOI Listing
June 2019

Headache, chest pain, and multiplex cranial neuropathy.

Neurol Sci 2019 Jul 23;40(7):1477-1480. Epub 2019 Jan 23.

Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-019-3718-xDOI Listing
July 2019

CD34 Expression in Low-Grade Epilepsy-Associated Tumors: Relationships with Clinicopathologic Features.

World Neurosurg 2019 Jan 9;121:e761-e768. Epub 2018 Oct 9.

Neurosurgery Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

Objective: To analyze relationships between CD34 expression and several demographic, clinical, and pathologic features in patients with histopathologic evidence of low-grade epilepsy-associated tumors who underwent epilepsy surgery.

Methods: A retrospective study enrolling 187 patients with low-grade epilepsy-associated tumors who underwent surgery between January 2009 and June 2015 at 8 Italian epilepsy surgery centers was conducted. All cases were histologically diagnosed according to the World Health Organization classification of central nervous system tumors. Univariate and multivariate analyses were performed to identify variables associated with CD34 expression.

Results: Of 187 patients, 95 (50.8%) were CD34 positive. Tumor type and duration of epilepsy were independently associated with CD34 expression on multivariate analysis. Ganglioglioma and pleomorphic xanthoastrocytoma were the histologic types with the strongest association with CD34 positivity with an odds ratio of 9.2 and 10.4, respectively, compared with dysembryoplastic neuroepithelial tumors. Patients with a duration of epilepsy >10 years had a significantly greater likelihood to show CD34 expression, with an odds ratio of 2.8 compared with patients with a duration of epilepsy <2 years. On univariate analysis, CD34 expression appeared to be significantly related to older age at surgery, higher antiepileptic drug intake, and female sex.

Conclusions: CD34 expression holds promise as a useful biomolecular marker for patients with low-grade epilepsy-associated tumors with evidence of a link with clinicopathologic features. This study confirmed the association between CD34 expression and tumor type and demonstrated a significantly higher probability of CD34 expression in patients with longer duration of epilepsy, independent of histology.
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http://dx.doi.org/10.1016/j.wneu.2018.09.212DOI Listing
January 2019

Multilocus genotype analysis outlines distinct histories for Trichinella britovi in the neighboring Mediterranean islands of Corsica and Sardinia.

Parasit Vectors 2018 Jun 19;11(1):353. Epub 2018 Jun 19.

European Union Reference Laboratory for Parasites, Istituto Superiore di Sanità, Rome, Italy.

Background: The zoonotic nematode Trichinella britovi was discovered in two neighboring Mediterranean islands of Corsica and Sardinia, almost simultaneously at the beginning of the 21st century. An epidemiological link between the two parasite populations was generally assumed. In 2015, an outbreak of trichinellosis in Nice, the South of France, was reportedly caused by the consumption of raw pork delicatessen imported from Corsica. The aims of the present study were to investigate, by multilocus genotype (MLG) analyses, the hypothesis of the common origin of the Corsican and Sardinian T. britovi foci and to trace "from fork to farm" the origin of the pork product, which caused a trichinellosis outbreak in mainland France in 2015.

Methods: Sixty-three T. britovi isolates were collected from animals and pork products of Sardinia and Corsica islands and from mainland of Italy, France and Spain. We analyzed genetic variability at four polymorphic microsatellite loci by two independent algorithms, the Bayesian and multivariate analyses, to evaluate the genetic relationships of 1367 single larvae.

Results: Trichinella britovi isolates of the two islands showed different genetic structures and the Bayesian analysis revealed a different membership of the two insular populations. Furthermore, two geographically separate genetic groups were identified among Corsican isolates. Lastly, the origin of the pork delicatessen marketed in Nice was linked to a breeder-butcher in Corsica.

Conclusions: The low level of genetic admixture of the insular T. britovi isolates suggests that this pathogen colonized the two islands by separate events. On the other hand in Corsica, although the isolates share the same genetic structure, geographically separate isolates showed different membership. We suggest the MLG analysis as a suitable method in supporting epidemiological investigations to trace "from fork to farm" insular populations of T. britovi.
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http://dx.doi.org/10.1186/s13071-018-2939-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006749PMC
June 2018

Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1) in brain tumors of a cohort of Italian patients.

Sci Rep 2018 03 13;8(1):4459. Epub 2018 Mar 13.

Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale) - Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna School of Medicine, Bologna, Italy.

IDH mutational status is required for proper diagnosis according to the WHO criteria revised in 2016. The single nucleotide polymorphism (SNP) rs11554137 (IDH1) at codon 105 of IDH1 has been reported in patients with several tumor types, including those with glioma. The aim of this study is to investigate the prevalence of IDH1 in a cohort of brain tumors, and its association with clinicopathologic features and IDH1 and IDH2 missense mutations. Exon 4 of IDH1 and IDH2 was analyzed in a series of brain tumors classified according to current WHO criteria. DNA from control individuals was analyzed to infer the prevalence of IDH1 in the reference population. Analysis was performed using next generation sequencing. IDH1 was three times more frequent in patients with tumors (44/293 cases, 15.0%) vs. population controls (6/109, 5.5%) (p = 0.0102). IDH1 was more frequent in grade III tumors (26.1%) compared to grade II (10.9%, p = 0.038) and grade IV tumors (13.7%, p = 0.041). IDH1 was more frequent in grade II and III tumors without an IDH tumor missense mutation (43.8%) than in those with (11.5%, p = 0.005). The IDH1 SNP likely represents an important genetic marker, worthy of additional investigation to better understand the clinical and biological features of IDH-WT infiltrating gliomas.
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http://dx.doi.org/10.1038/s41598-018-22222-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849696PMC
March 2018

Disseminated Oligodendroglial-like Leptomeningeal Tumor in the Adult: Case Report and Review of the Literature.

World Neurosurg 2018 Jun 9;114:53-57. Epub 2018 Mar 9.

Department of Neurosurgery, Santa Corona Hospital, Pietra Ligure, Italy.

Background: Diffuse leptomeningeal glioneuronal tumor (DLGNT) was recently added to the World Health Organization classification of central nervous system tumors. DLGNT is a rare entity that occurs more commonly in pediatric patients, but occasional cases have been reported in adults. This tumor has been recognized as a distinct pathologic entity; however, its biologic behavior remains unclear. It is considered an indolent neoplasm, although considerable morbidity has been reported. For this reason, further characterization and collection of evidence are crucial.

Methods: In this article, we reported a case of a 36-year-old woman with a DLGNT characterized by rapid, aggressive behavior. We also performed a review of the literature for reported cases of low-grade and high-grade forms involving adults and children.

Results: DLGNTs should no longer be considered only as low-grade tumors affecting pediatric patients. The spectrum of presentations also includes aggressive tumors affecting adults.

Conclusions: Further clinical and pathologic data supported by cytogenetic and molecular investigations are mandatory to better characterize DLGNTs.
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http://dx.doi.org/10.1016/j.wneu.2018.02.160DOI Listing
June 2018

Letter to the Editor. Focal cortical dysplasia type IIIa and isolated hippocampal sclerosis.

J Neurosurg 2018 06 9;128(6):1898-1899. Epub 2018 Feb 9.

2IRCCS Foundation Neurological Institute "C. Besta," Milan, Italy.

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http://dx.doi.org/10.3171/2017.8.JNS171954DOI Listing
June 2018

Primary Cardiac High-grade Myxofibrosarcoma Presenting with Multiple Brain Metastases: A Case Report.

Cureus 2017 Nov 21;9(11):e1866. Epub 2017 Nov 21.

Department of Neurosurgery, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

Herein we describe the case of a young patient who presented with a recent history of epilepsy due to multiple brain lesions; he did not complain about any cardiopulmonary impairments. The patient died as a consequence of hemorrhagic progression of brain metastatic disease. Regardless of a thorough investigation, the heart tumor remained occult. Primary cardiac tumors are very rare entities. Most of these are benign, but approximately 25% are malignant, and the majority of these are sarcomas. Myxofibrosarcoma and osteosarcoma are exceptionally rare. To date, we find only small series of cardiac myxofibrosarcoma, and to our knowledge, this one exceptionally presented with multiple brain metastatic lesions without cardiopulmonary symptoms.
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http://dx.doi.org/10.7759/cureus.1866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773267PMC
November 2017

Trichinella spiralis a new alien parasite in Italy and the increased risk of infection for domestic and wild swine.

Vet Parasitol 2017 Nov 1;246:1-4. Epub 2017 Sep 1.

Istituto Superiore di Sanità, viale Regina Elena 299, 00161 Rome, Italy. Electronic address:

In Europe, Trichinella spiralis, the most dangerous species for humans of the genus Trichinella, has a patchy distribution with important foci in Eastern countries and Spain. This zoonotic pathogen was apparently not circulating among wild and domestic animals of Italy. In 2016, muscle larvae belonging to this nematode species were detected in a red fox (Vulpes vulpes) shot in the Piacenza province (Northern Italy). This parasite may have been introduced into northern Italy from eastern Europe by hunters, by a hunting dog, or by immigrants, who illegally carried infected meat in their personal baggage. In the same year, T. spiralis infected sausages illegally introduced by personal baggage into Italy from Romania, were inadequately disposed of in the garbage of a central Italian town. Even though these two episodes may not be connected in time and space, they represent an increased risk of infection for domestic and wild swine, which are highly susceptible to this pathogen. In these animals, T. spiralis shows a higher larval burden and a longer survival time than other Trichinella species. Since most of the Italian pig production plants are in northern Italy, the circulation of T. spiralis should be strictly monitored in wildlife living in these areas.
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http://dx.doi.org/10.1016/j.vetpar.2017.08.021DOI Listing
November 2017

Ultrasound assisted awake epilepsy surgery for type IIB focal cortical dysplasia in eloquent areas.

J Neurosurg Sci 2021 Feb 28;65(1):75-77. Epub 2017 Sep 28.

Division of Neurosurgery, IRCCS Institute of Neurological Science of Bologna, Bellaria Hospital, Bologna, Italy.

Focal cortical dysplasia (FCD) type IIb is a frequent cause of pharmacoresistant epilepsy. However, intraoperative identification of the pathological tissue still remains a challenge despite the use of neuronavigation, particularly when it lies in eloquent areas. We here report a case of intraoperative identification of a right frontal FCD type IIB through ultrasound assisted neuronavigation during awake surgery in a patient with drug-resistant epilepsy. Intraoperative ultrasound may have a role in focal cortical dysplasia localization optimizing its resection. In selected patient submitted to epilepsy surgery the integration of disposable technologies (i.e. brain neuronavigation, fMRI and iUS) with awake surgery could improve FCD identification preventing unacceptable neurological morbidity.
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http://dx.doi.org/10.23736/S0390-5616.17.04186-8DOI Listing
February 2021

Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors": A retrospective nationwide Italian study.

Epilepsia 2017 11 14;58(11):1832-1841. Epub 2017 Aug 14.

"Claudio Munari" Center for Epilepsy Surgery, Niguarda Hospital, Milan, Italy.

Objective: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs).

Methods: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome. In addition, we compared patients with tumor-associated focal cortical dysplasia (FCD) and patients with solitary tumors to identify factors correlated with FCD diagnosis.

Results: Fifty-five (98.2%) of 56 patients with medically controlled epilepsy were seizure-free after surgery, compared to 249 (88.0%) of 283 patients with refractory epilepsy. At multivariate analysis, three variables independently predict unfavorable seizure outcome in the drug-resistant group. Age at surgery is largely the most significant (p = 0.001), with an odds ratio (OR) of 1.04. This means that the probability of seizure recurrence grows by 4% for every waited year. The resection site is also significant (p = 0.039), with a relative risk (RR) of 1.99 for extratemporal tumors. Finally, the completeness of tumor resection has a trend toward significance (p = 0.092), with an RR of 1.82 for incomplete resection. Among pediatric patients, a longer duration of epilepsy was significantly associated with preoperative neuropsychological deficits (p < 0.001). A statistically significant association was observed between FCD diagnosis and the following variables: tailored surgery (p < 0.001), temporal resection (p = 0.001), and surgical center (p = 0.012).

Significance: Our nationwide LEATs study gives important insights on factors predicting seizure outcome in refractory epilepsy and determining variability in FCD detection. Timely surgery, regardless of pharmacoresistance and oriented to optimize epileptologic, neuropsychological, and oncologic outcomes should be warranted.
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http://dx.doi.org/10.1111/epi.13866DOI Listing
November 2017

Non-canonical IDH1 and IDH2 mutations: a clonal and relevant event in an Italian cohort of gliomas classified according to the 2016 World Health Organization (WHO) criteria.

J Neurooncol 2017 Nov 26;135(2):245-254. Epub 2017 Jul 26.

Department of Pharmacy and Biotechnology (Dipartimento di Farmacia e Biotecnologie) - Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna, Bologna, Italy.

According to the 2016 World Health Organization (WHO) classification of tumors of the central nervous system, assessment of exon 4 mutations in isocitrate dehydrogenase 1 or 2 genes (IDH1 or IDH2) is an essential step in the characterization of gliomas. The p.R132H mutation is the most frequent alteration in IDH genes, however other non-canonical IDH mutations can be identified. The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells. A total of 288 consecutive cases of brain gliomas (grade II-IV) were analyzed for exon 4 IDH1 and IDH2 mutations. IDH1 and IDH2 analysis was performed using next generation sequencing. Non-canonical IDH mutations were identified in 13/52 (25.0%) grade II gliomas (astrocytomas: 8/31, 25.8%; oligodendrogliomas: 5/21, 23.8%) and in 5/40 (12.5%) grade III gliomas (astrocytomas: 3/25, 12.0%; oligodendrogliomas: 2/15, 13.3%). They were not identified in 196 grade IV gliomas (192 glioblastomas, 4 gliosarcomas). In the large majority (>80%) of tumors IDH mutations, both IDH1-R132H and the non-canonical ones, were present in the large majority (>80%) of neoplastic cells. Our data highlight the importance of investigating not only the IDH1-R132H mutation but also the non-canonical ones. These mutations are clonally distributed, with proportions of mutated neoplastic cells overlapping with those of p.R132H, a finding consistent with their driver role in gliomagenesis.
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http://dx.doi.org/10.1007/s11060-017-2571-0DOI Listing
November 2017

Relationship among clinical, pathological and bio-molecular features in low-grade epilepsy-associated neuroepithelial tumors.

J Clin Neurosci 2017 Oct 30;44:158-163. Epub 2017 Jun 30.

IRCCS Institute of Neurological Sciences of Bologna, Division of Neurosurgery, Bellaria Hospital, Bologna, Italy.

The aim of this study was to evaluate the relationship between molecular markers and clinicopathological features in patients operated on for low-grade epilepsy-associated neuroepithelial tumors. Molecular-genetic signatures are becoming increasingly important in characterizing these lesions, which represent the second most common cause of focal epilepsy in patients undergoing epilepsy surgery. Data from 22 patients operated on for histopathologically confirmed low-grade epilepsy-associated neuroepithelial tumors were retrospectively collected. All specimens were examined for BRAF and IDH mutational status, 1p/19q codeletion and CD34 expression. The relationship between bio-molecular markers and several demographic, clinical and pathological features were analyzed. BRAF mutation was found in 11 (50.0%) patients and CD34 expression in 13 (59.1%). No patients presented IDH mutation or 1p/19q codeletion. Multiple seizure types were present in 5 (45.5%) patients with BRAF mutation and in none of those with BRAF wild type (p=0.035). Moreover, BRAF mutation was predominant in right-sided lesions (p=0.004) and CD34 expression was significantly associated with a longer duration of epilepsy (p=0.027). Several other clinicopathological features, such as association with focal cortical dysplasia and postoperative seizure outcome, showed no significant correlation with molecular markers. Further studies are necessary both to confirm these data in larger cohort of patients and to investigate possible relationships between molecular markers and other clinicopathological features.
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http://dx.doi.org/10.1016/j.jocn.2017.06.022DOI Listing
October 2017