Abstract
Particle collider experiments generate huge volumes of complex data, and event displays provide a useful visual representation to accelerate the learning process towards physics results. ...Event displays are also used to verify expected behaviour, identify anomalous data, or explain important results. They often have a steep learning curve, a high barrier to entry, or are tightly bound to a specific environment. The upgrade of ALICE in preparation for Run 3 of the LHC requires modifications to existing event displays. We present here a cross-platform, browser-based event display, focused on interactive 2-dimensional projections of collision data from ALICE, specifically focused on the operation of the Transition Radiation Detector (TRD). It is driven by a flexible intermediate JSON data format suitable for web-based displays, and a generic task to convert existing data acquired in previous runs to this format. The relationship between raw and reconstructed data in the TRD is illustrated through a novel pairing of raw and reconstructed data in a unified interactive view. A formal design study methodology was used to guide these choices, and the display was evaluated by both scientists and the public, through a series of case studies.
Early onset epileptic encephalopathy (EOEE) is characterized by pharmaco refractory seizures (including tonic spasms) starting in the first weeks of life and typical electroencephalography pattern ...with suppression-burst and bilateral, multiregional epileptic discharges. The psychomotor development is severely impaired in most of the cases. Besides structural lesions, variable genetic defects have been identified to be potential etiologies. De novo mutations in KCNQ2 are a more frequent etiology. Although up to 50% of the affected children may become seizure free in the course, the psychomotor development remains severely impaired. While only few patients seem to benefit from retigabine, which directly acts on the KCNQ2 coded potassium channel, many children seem to respond to classical sodium channel blockers.
We report the case of a 5-year-and-4-month-old girl with a severe form of EOEE. Therapeutic trials with phenobarbital, topiramate, vigabatrin, levetiracetam, sulthiame, valproate, clonazepam, and corticosteroids failed to control the seizures. The etiology remained unclear although a broad neurometabolic and genetic diagnostic work-up had been performed. At the age of 4.5 years, a molecular-genetic panel diagnosis revealed a most probably pathogenic de novo mutation in KCNQ2 (c.659T>C; p.L220P, het.). The targeted use of retigabine (maximum dose 8 mg/kg/d) was not effective. When oxcarbazepine (up to 20 mg/kg/d) was added to valproate, levetiracetam, and vigabatrin, there was a prompt and definite effect with a reduction of seizures by at least 75%, especially of impairing tonic seizures even so valproate and vigabatrin were stopped.
As predicted by the physiologists, the indirect effect of blocking sodium channels seems to be a stabilizing factor in relation to the disturbed potassium flow. Sodium channel blockers are not a typical therapy for early epileptic encephalopathies, and they may even aggravate seizures in these young infants. However, the administration is an important therapeutic option in children with KCNQ2 mutations.
The measurement of
γ
+
jet
events with a direct photon in coincidence with an energetic parton can provide unique insights into the propagation and fragmentation of the parton in the presence of the ...hot and dense medium created in heavy-ion collisions. One way to explore these effects is the study of azimuthal correlations between the direct photon and hadrons produced in the fragmentation.
We present azimuthal correlations between photons with a transverse momentum of more than 10 GeV and charged hadrons with a transverse momentum of more than 2 GeV in Au+Au collisions at
s
N
N
=
200
GeV
that have been measured with the STAR detector at RHIC. The separation of correlations with direct photons and photons from hadronic decays will be discussed.
Event-by-event fluctuations at SPS Appelshäuser, Harald; Sako, Hiro; Adamová, D. ...
Nuclear physics. A,
04/2005, Letnik:
752
Journal Article
Recenzirano
Odprti dostop
Results on event-by-event fluctuations of the mean transverse momentum and net charge in Pb-Au collisions, measured by the CERES Collaboration at CERN-SPS, are presented. We discuss the centrality ...and beam energy dependence and compare our data to cascade calculations.
The STAR Level-3 trigger system Adler, C.; Berger, J.; Demello, M. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
03/2003, Letnik:
499, Številka:
2
Journal Article
Recenzirano
Odprti dostop
The STAR Level-3 trigger issues a trigger decision upon a complete online reconstruction of Au+Au collisions at relativistic heavy ion collider energies. Central interactions are processed up to a ...rate of
50
s
−1
including a simple analysis of physics observables. The setup of the processor farm and the event reconstruction as well as experiences and the proposed trigger algorithms are described.
Background:
Whole exome sequencing identified
de novo
mutations in
GNAO1
as a cause of an epileptic encephalopathy. Recently, 12 female patients with variable phenotype and relevant mutations were ...reported. Apart from seizures, the patients presented with impaired motor and cognitive function as well as disturbed behavior.
Patients and Methods:
We report the case of a 3-year-old girl with a
de novo
missense-mutation in
GNAO1
, c.607G > A;=, p.Gly203 Arg;=. Tonic seizures with bilateral seizure pattern started at the age of 9 days. Repetitive video-EEG investigation revealed exclusive temporal left seizure patterns during clusters of vegetative and/or dyscognitive seizures. Spasm-like tonic seizures with turning to the left were accompanied by episodes of agitation with opisthotonus while consciousness remained preserved. There was no EEG seizure pattern during these episodes and they were classified as non-epileptic spasm. While the early EEGs showed an encephalopathy, EEG, at the age of 7 months, the EEG was clearly not encephalopathic but was characterized by delta and theta activity and rare multi-regional, bi-hemispheric epileptic activity.
Results:
The development was retarded from the beginning. Repeated MRI showed mild atrophy of the brain without a potentially epileptic lesion. FDG-PET revealed a marked hypometabolism of the left temporal lobe.
The pharmacoresistant temporal-lobe seizures were very frequent and life-threatening because of distinct bradycardia. Epilepsy surgery was considered seriously but finally not performed.
Co-administration of lamotrigine and zonisamide stopped epileptic activity but didn't influence the involuntary movements.
Conclusion:
In this case, a de-novo mutation in GNAO caused severe focal epilepsy in conjunction with an impressive movement disorder which became clear only after video-EEG monitoring.
Aims:
Evaluation of effect and side effect von Quinidine in malignant migrating partial seizures in infancy (MMPSI) patients with KCNT mutation
Methods:
This study is a retrospective analysis of the ...three cases.
Results:
MMPSI is characterized by electroclinical features of migrating polymorphous focal seizures refractory to antiepileptic treatment and progressive developmental deterioration. The important role of KCNT1 was recently recognized. KCNT1 is expressed in both, cerebral neurons and cardiomyocytes. It plays an important role in the regulation of neuronal excitability. KCNT1 mutations cause a pathogenic gain of function with increased conductance for potassium causing a pathogenic hyperexcitability in vitro. Quinidine acts as a reversible blocker of KCNT1 channels.
We retrospectively report the effect of quinidine in three patients with KCNT1 positive MMPSI. Seizures had started at 91 (range, 1–270 days) days of age and the further course was characterized.
The treatment was started at 14, 24, and 29 months of age, respectively. There was no drop out at the follow-up of 3.7 (range, 3–4 months) months. The maximum doses were 55, 76, and 108 mg/kg/d. All patients had a benefit either because of a decrease of the seizure burden or a reduction of impairing AED without deterioration. The two patients with higher doses showed prolonged QTc time and possibly further symptoms of an overdose with seizure aggravation and/or agitation. Dose reductions to 43 and 46 mg/kg/d lead to a stabilization.
Conclusion:
Quinine is effective in patients with MMPSI and KCNT1 mutations as it has been shown in vitro. There was a positive effect on development which, however, was less prominent compared with the one case reported in the literature. The treatment with quinidine is sophisticated because of the narrow therapeutic index, the sensitivity to drug interactions (CYP-450), and possibly life-threatening cardiac side effects.
Keywords:
epilepsy, MMPSI, quinidine, potassium channels, genetics, KCNT1.
Das Ivy Sign – Muss man das kennen? Dietel, T.; Bacher, M.; Bast, T. ...
Zeitschrift für Epileptologie,
08/2016, Letnik:
29, Številka:
3
Journal Article
Recenzirano
Zusammenfassung
Eine leptomeningeale Kontrastmittelanreicherung in T1-gewichteten MRT-Sequenzen bei Kindern mit einer Moya-Moya-Erkrankung wurde erstmals 1995 beschrieben. Als strukturelles Korrelat ...wurde ein ausgedehntes arterielles Netzwerk kollateraler Gefäße im Bereich der Pia mater angenommen. Nach dem Bild eines auf dem Stein wachsenden Efeus benannte die Gruppe dieses Phänomen Ivy Sign. Vier Jahre später wurde der Begriff für Signalanhebungen im Bereich der Leptomeninx in FLAIR-Sequenzen im Zusammenhang mit der Moya-Moya-Erkrankung eingeführt. In den folgenden Jahren wurde umfangreich über Signalanhebungen in FLAIR-Sequenzen peripherer und zentraler Liquorräume berichtet. Unabhängig von Gefäßerkrankungen gibt es dafür weitere pathologische Ursachen, die von physiologischen Phänomenen und artifiziellen Störungen abgegrenzt werden müssen.
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