213 research outputs found
The Gigabit Optical Transmitters for the LHCb Calorimeters
This report presents the boards developed for the optical data transmission of the calorimeter system of the LHCb experiment and test results. We developed two types of transmission boards: the single-channel and the multi-channel ones. Multi-channel boards can be equipped with a variable number of transmitters, depending on the need, with a maximum allowed of 12 channels. Each optical channel allows transmitting 32 bit data at 40.08 MHz. The boards have been designed and built using radiation hard devices produced at CERN. The optical links have been qualified using the eye diagram and the BERT at 1.6Gbps
Presynaptic paraneoplastic disorders of the neuromuscular junction: An update
The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ
Sosialisasi Permainan Bola Basket Untuk Meningkatkan Kemampuan Motorik Kasar
Permainan bola basket merupakan salah satu jenis permainan yang bukan hanya mengandalkan tenaga atau kekuatan fisik semata, namun juga membutuhkan konsentrasi dan kemampuan berpikir untuk menyusun strategi penyerangan ke area lawan. Melakukan pergerakan tangan dan kaki dalam setiap teknik bermain basket juga memerlukan fokus atau koordinasi yang baik agar tidak terkena pelanggaran. Kegiatan ini bertujuan untuk meningkatkan pemahaman praktisi tentang jenis permainan bola basket dalam meningkatkan kemampuan motorik kasar. Fisik yang sehat dan pertumbuhan yang maksimal bisa dirasakan oleh siapa saja yang menjadikan basket sebagai salah satu kegiatan fisik motoric kasar berupa permainan bola basket yang diterapkan
IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES
The purpose of our study was to describe the clinical characteristics of sporadic
(S) cases of partial epilepsy with auditory features (PEAF) and pinpoint
clinical, prognostic and genetic differences with respect to previously reported
familial (F) cases of autosomal dominant partial epilepsy with auditory features
(ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed
according to the following criteria: partial epilepsy with auditory symptoms,
negative family history for epilepsy and absence of cerebral lesions on NMR
study. All patients underwent a full clinical, neuroradiological and
neurophysiological examination. Forty patients were screened for mutations in
LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39
years (average 19 years). Secondarily generalized seizures were the most common
type of seizures at onset (79%). Auditory auras occurred either in isolation
(53%) or associated with visual, psychic or aphasic symptoms. Low seizure
frequency at onset and good drug responsiveness were common, with 51% of patients
seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no
major differences were found between S and F patients with respect to age at
onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin
exons failed to disclose mutations. Our data support the existence of a peculiar
form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without
a positive family history. This syndrome, here named IPEAF, has a benign course
in the majority of patients and could be diagnosed by the presence of auditory
aura. Although LGI1 mutations have been excluded, genetic factors may play an
aetiopathogenetic role in at least some of these S cases
Presence of Skin α-Synuclein Deposits Discriminates Parkinson's Disease from Progressive Supranuclear Palsy and Corticobasal Syndrome
Background: Previous studies reported skin phosphorylated α-synuclein (p-syn) deposits in Parkinson's disease (PD) patients but not in patients with parkinsonism due to tauopathies, although data on the latter are limited. Objective: We aimed to assess the presence of skin p-syn deposits in patients with clinical diagnosis of parkinsonism usually due to tauopathy and PD. Methods: We consecutively recruited 26 patients, 18 fulfilling clinical diagnostic criteria of progressive supranuclear palsy (PSP) and 8 of corticobasal syndrome (CBS), 26 patients with PD, and 26 healthy controls (HC). All subjects underwent skin biopsy to study p-syn deposits in skin nerves by immunofluorescence. Results: Skin p-syn deposits were present in only two of the PSP/CBS patients and none of the HC. Conversely, all PD patients showed p-syn deposition (p <  0.001, Chi-square). The two p-syn positive patients were diagnosed with PSP and CBS, respectively. Although clinical and MRI findings supported these diagnoses, both patients had some atypical features more typical of synucleinopathies. Conclusion: The detection of skin p-syn deposits may help in the differential diagnosis of parkinsonism. Indeed, in this study, all PD patients and only two out of 26 with a clinical diagnosis of PSP/CBS had skin p-syn deposits. Furthermore, these two patients showed clinical features that could suggest an atypical synucleinopathy presentation or a mixed pathology
Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study
Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.025). This finding is consistent with current literature, as parkin levels were found to be decreased in ALS animal models and patients. Our results confirm the possible role of PD-related genes as risk modifier in ALS pathogenesis
An Improved Shashlyk Calorimeter
Shashlyk electromagnetic calorimeter modules with an energy resolution of
about 3%/sqrt{E (GeV)} for 50-1000 MeV photons has been developed, and a
prototype tested. Details of these improved modules, including mechanical
construction, selection of wave shifting fibers and photo-detectors, and
development of a new scintillator with improved optical and mechanical
properties are described. How the modules will perform in a large calorimeter
was determined from prototype measurements. The experimentally determined
characteristics of the calorimeter prototype show energy resolution of
sigma_E/E=(1.96+-0.1)% \oplus (2.74+-0.05)%/sqrt{E}, time resolution of sigma_T
= (72+-4)/sqrt{E} \oplus (14+-2)/E (ps), where photon energy E is given in GeV
units and \oplus means a quadratic summation. A punch-through inefficiency of
photon detection was measured to be \epsilon = 5*10^{-5} (\Theta >5 mrad).Comment: 29 pages, 21 figure
Data transmission and selection for the L0 calorimeter trigger of LHCb
This report describes the optical transmitter boards and the Selection Crate, designed by the Bologna INFN-LHCb group, for the data transmission and the L0 calorimeter trigger of the LHCb experiment. The optical transmitters are used throughout the calorimeter system for data acquisition and the data transmission to the L0 trigger system. The optical transmitters allow transmitting 32 bit at the LHC clock of 40.08 MHz on a single fibre. The Selection Crate (SC) is used to select the most energetic deposits detected by the electromagnetic and the hadron calorimeters of LHCb, as well as to evaluate other auxiliary global trigger quantities (i.e. the total energy released and the hit multiplicity). The Selection Crate is a modular system equipped with homogeneous Selection Boards
Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study
Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course. Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR > 1), intermediate (DPR 0.5–1), and slow progressors (DPR < 0.5). All patients were screened for the most frequent ALS-associated genes. Plasma and CSF samples were retrospectively analyzed; NfL concentrations were measured with the SIMOA platform using a commercial kit. Results: ALS patients (n = 171) showed significantly higher pNfL (p < 0.0001) and cNfL (p < 0.0001) values compared to ALS mimics (n = 60). Both cNfL and pNfL demonstrated a good diagnostic value in discriminating the two groups, although cNfL performed slightly better (cNfL: AUC 0.924 ± 0.022, sensitivity 86.8%, specificity 92.4; pNfL: AUC 0.873 ± 0.036, sensitivity 84.7%, specificity 83.3%). Fast progressors showed higher cNfL and pNfL as compared to intermediate (p = 0.026 and p = 0.001) and slow progressors (both p < 0.001). Accordingly, ALS patients with higher baseline cNfL and pNfL levels had a shorter survival (highest tertile of cNfL vs. lowest tertile, HR 4.58, p = 0.005; highest tertile of pNfL vs. lowest tertile, HR 2.59, p = 0.015). Moreover, there were positive associations between cNfL and pNfL levels and the number of body regions displaying UMN signs (rho = 0.325, p < 0.0001; rho = 0.308, p = 0.001). Finally, longitudinal analyses in 57 patients showed stable levels of pNfL during the disease course. Conclusion: Both cNfL and pNfL have excellent diagnostic and prognostic performance for symptomatic patients with ALS. The stable longitudinal trajectory of pNfL supports its use as a marker of drug effect in clinical trials
Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis
open14noClinical signs of upper motor neuron (UMN) involvement are important in the diagnosis of amyotrophic lateral sclerosis (ALS) though are often difficult to analyze. Many studies using both qualitative and quantitative evaluations have reported abnormal Magnetic Resonance Imaging (MRI) findings at the level of the pyramidal pathway in patients with ALS. Although the most interesting results were obtained by quantitative studies using advanced MR techniques, the qualitative evaluation of MRI images remains the most-used in clinical practice. We evaluated the diagnostic and prognostic contribution of conventional 3T-MRI in the clinical work-up of ALS patients. Two neuroradiologists retrospectively assessed 3T-MRI data of 93 ALS patients and 89 controls. The features of interest were corticospinal tract (CST) T2/FLAIR hyperintensity, motor cortex (MC) T2*/SWI hypointensity, and selective MC atrophy. All MRI features were significantly more prevalent in ALS patients than in controls. The simultaneous presence of CST FLAIR hyperintensity and MC SWI hypointensity was associated with the highest diagnostic accuracy (sensitivity: 70%; specificity: 81%; positive predictive value, PPV: 90%; negative predictive value, NPV: 51%; accuracy: 73%) and a shorter survival (HR: 6.56,p= 0.002). Conventional 3T-MRI can be a feasible tool to detect specific qualitative changes based on UMN involvement and to support clinical diagnosis of ALS. Importantly, CST FLAIR hyperintensity and MC SWI hypointensity are predictors of shorter survival in ALS patients.openRizzo, Giovanni; Marliani, Anna Federica; Battaglia, Stella; Albini Riccioli, Luca; De Pasqua, Silvia; Vacchiano, Veria; Infante, Rossella; Avoni, Patrizia; Donadio, Vincenzo; Passaretti, Massimiliano; Bartolomei, Ilaria; Salvi, Fabrizio; Liguori, Rocco; On Behalf Of The BoReALS Group, nullRizzo, Giovanni; Marliani, Anna Federica; Battaglia, Stella; Albini Riccioli, Luca; De Pasqua, Silvia; Vacchiano, Veria; Infante, Rossella; Avoni, Patrizia; Donadio, Vincenzo; Passaretti, Massimiliano; Bartolomei, Ilaria; Salvi, Fabrizio; Liguori, Rocco; On Behalf Of The BoReALS Group, nul
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