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1.
Eur J Neurol ; 27(11): 2322-2328, 2020 11.
Article in English | MEDLINE | ID: mdl-32681611

ABSTRACT

BACKGROUND AND PURPOSE: The objective of this study was to assess the neurological manifestations in a series of consecutive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive patients, comparing their frequency with a population hospitalized in the same period for flu/respiratory symptoms, finally not related to SARS-CoV-2. METHODS: Patients with flu/respiratory symptoms admitted to Fondazione Policlinico Gemelli hospital from 14 March 2020 to 20 April 2020 were retrospectively enrolled. The frequency of neurological manifestations of patients with SARS-CoV-2 infection was compared with a control group. RESULTS: In all, 213 patients were found to be positive for SARS-CoV-2, after reverse transcriptase polymerase chain reaction on nasal or throat swabs, whilst 218 patients were found to be negative and were used as a control group. Regarding central nervous system manifestations, in SARS-CoV-2-positive patients a higher frequency of headache, hyposmia and encephalopathy always related to systemic conditions (fever or hypoxia) was observed. Furthermore, muscular involvement was more frequent in SARS-CoV-2 infection. CONCLUSIONS: Patients with COVID-19 commonly have neurological manifestations but only hyposmia and muscle involvement seem more frequent compared with other flu diseases.


Subject(s)
COVID-19/complications , Nervous System Diseases/etiology , Adult , Aged , Anosmia/epidemiology , Anosmia/etiology , Brain Diseases/epidemiology , Brain Diseases/etiology , COVID-19/epidemiology , Female , Headache/epidemiology , Headache/etiology , Hospitalization , Humans , Influenza, Human/complications , Influenza, Human/epidemiology , Male , Middle Aged , Nervous System Diseases/epidemiology , Neuromuscular Diseases/epidemiology , Neuromuscular Diseases/etiology , Patients , Retrospective Studies
2.
Eur J Neurol ; 27(3): 498-505, 2020 03.
Article in English | MEDLINE | ID: mdl-31571321

ABSTRACT

BACKGROUND AND PURPOSE: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. METHODS: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico-diagnostic findings were reviewed to define the phenotypic spectrum. RESULTS: Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. CONCLUSIONS: Our results support SCA48 as a significant cause of adult-onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.


Subject(s)
Spinocerebellar Ataxias/physiopathology , Adult , Age of Onset , Aged , Brain/diagnostic imaging , Cognition Disorders/etiology , Cohort Studies , Female , Humans , Italy , Magnetic Resonance Imaging , Male , Middle Aged , Mood Disorders/etiology , Mutation/genetics , Phenotype , Spinocerebellar Ataxias/diagnostic imaging , Spinocerebellar Ataxias/genetics , Trinucleotide Repeat Expansion , Ubiquitin-Protein Ligases/genetics
3.
Rev Sci Instrum ; 87(4): 043507, 2016 04.
Article in English | MEDLINE | ID: mdl-27131674

ABSTRACT

A gamma ray camera is built for the DIII-D tokamak [J. Luxon, Nucl. Fusion 42, 614 (2002)] that provides spatial localization and energy resolution of gamma flux by combining a lead pinhole camera with custom-built detectors and optimized viewing geometry. This diagnostic system is installed on the outer midplane of the tokamak such that its 123 collimated sightlines extend across the tokamak radius while also covering most of the vertical extent of the plasma volume. A set of 30 bismuth germanate detectors can be secured in any of the available sightlines, allowing for customizable coverage in experiments with runaway electrons in the energy range of 1-60 MeV. Commissioning of the gamma ray imager includes the quantification of electromagnetic noise sources in the tokamak machine hall and a measurement of the energy spectrum of background gamma radiation. First measurements of gamma rays coming from the plasma provide a suitable testbed for implementing pulse height analysis that provides the energy of detected gamma photons.

4.
Minerva Chir ; 55(5): 383-7, 2000 May.
Article in Italian | MEDLINE | ID: mdl-10953578

ABSTRACT

BACKGROUND: The use of local anesthesia in non-septic anal surgery is now well established. Tolerance to local injection, duration of local effect and the risk of local or systemic complications still represent unsolved issues. Ropivacaine, a new local anesthetic, seems particularly indicated for this kind of surgery because of its pharmacologic properties which reduce patient's discomfort during infiltration and provide good antalgic coverage in the first hours following the operation. METHODS: The first 20 consecutive cases operated with local anesthesia by ropivacaine have been prospectively studied. All patients have been given an 11-point box VAS scale which is used for subjective evaluation of pain. RESULTS: Mean pain score resulted 1.1, 1.6 and 1.4 at 1, 2 and 3 postoperative hours, respectively. Thirty percent of patients subsequently required pain medication up to the first bowel movement. No complications related to the use of ropivacaine has been observed. CONCLUSIONS: This new drug can be safely used in the outpatient or Day-Surgery treatment of hemorrhoids.


Subject(s)
Amides , Anesthetics, Local , Hemorrhoids/surgery , Adult , Aged , Amides/pharmacology , Anesthetics, Local/pharmacology , Female , Humans , Male , Middle Aged , Pain, Postoperative/prevention & control , Prospective Studies , Ropivacaine
5.
G Chir ; 18(10): 630-6, 1997 Oct.
Article in Italian | MEDLINE | ID: mdl-9479977

ABSTRACT

The histopathologic study of 24 specimens of radiated rectal cancers suggested new histologic criteria to define tumor regression after neo-adjuvant therapy. Better than traditional UICC staging system (pTNM), such criteria have identified those patients at higher risk of failure. Moreover, the study has confirmed the known difficulties of imaging studies in assuring an accurate staging of radiated rectal cancer before surgery.


Subject(s)
Rectal Neoplasms/pathology , Adult , Aged , Chemotherapy, Adjuvant , Female , Follow-Up Studies , Humans , Male , Middle Aged , Neoplasm Staging , Radiotherapy, Adjuvant , Rectal Neoplasms/drug therapy , Rectal Neoplasms/mortality , Rectal Neoplasms/radiotherapy
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