7 research outputs found
Changes in serum perampanel concentration profile after discontinuation of carbamazepine
No full textAn Online Induction Algorithm for Internal Contextual Grammars Using Restarting Automata
No full textAbstractIn this paper, we propose a new algorithm to induce an internal contextual grammar from positive examples using restarting automata. Motivation comes from, real-time systems which induce the target grammar within a deadline. In our algorithm, we deal with real time inputs which are generated by internal contextual grammar. Principally grammatical inference and grammar induction are considered equivalent but there is a slight difference, in this paper we concentrate on that difference. Here initially our algorithm will concentrate on grammatical Inference but at last it will be ended up with the concept of grammar induction. In order to induce the grammar, we first obtain insertion rules by scanning an input at a particular time unit. The insertion rules are converted into contextual rules. This set of contextual rules will be a guess about the grammar without taking care of over generalization. Further we will check the correctness of the contextual rules using restarting automata for the next input string and we update the rules based on need, that is called correction phase. After getting the final time-unit/deadline as an input, the algorithm executes some steps on the induced grammar to prune the over generalization of strings. It produces the final grammar for the strings which are given within the final time-unit
Post-COVID-19 febrile infection-related epilepsy syndrome in a child successfully treated with a multimodal approach
No full textPost-infectious inflammatory syndrome following COVID-19
infection has been increasingly reported affecting multiple
organs. Neurological presentations such as encephalopathy
and seizures are common. Recently, during the surge of
Omicron variant cases, we recorded a high prevalence of
febrile seizure cases all over the country. Most febrile
seizures are benign; however, a small proportion that
progress into refractory epilepsy syndrome and require
intensive care management. We report a 2-year-old child
with refractory status epilepticus following COVID-19
infection, who was diagnosed and treated as febrile
infection-related epilepsy syndrome (FIRES). A multimodal
approach was adopted, using immunotherapy tocilizumab
and ketogenic diet. The child currently has good seizure
control but requires neurorehabilitation to improve
ambulation, behaviour and cognition. This case highlights
the importance of quick recognition of FIRES and its
successful multimodal management that included
tocilizumab
Epilepsy of infancy with migrating focal seizures in a patient with nonketotic hyperglycinemia
No full textNonketotic hyperglycinemia (NKH) is an inborn
error of glycine metabolism leading to refractory
epilepsy and severe developmental delays. It is
caused by autosomal recessive inheritance of a
defect in the glycine cleavage system in the mitochondrial enzymatic complex pathway [1]. This
defect leads to overstimulation of the N-methyl-D-aspartate receptor and neurological damage
due to glycine accumulation in all body compartments.
The typical presentation of NKH is progressive
encephalopathy, apnea, and seizures during the
neonatal period [2]. Those who survive the neonatal period progress into refractory seizures with
moderate to severe cognitive impairment. Apart
from antiseizure medications, sodium benzoate,
dextromethorphan, and a ketogenic diet, no
known therapy is effective in treating this condition [3].
Electroencephalography (EEG) is used to assess brain and seizure activity in NKH. The usual
patterns seen are burst-suppression, hypsarrhythmia, and multifocal epileptiform activity [4,5].
Epilepsy of infancy with migrating focal seizures
(EIMFS) in NKH has never been described in
the literature. We report a case of a severe form of
NKH presenting during the neonatal period that
showed a burst-suppression EEG pattern and
evolved into EIMF
Analysis of Essential Minerals in Fruit Extracts Rich in Natural Pigment and Antioxidant Properties
No full textThis Dissertation / Report is the outcome of investigation carried out by the creator(s) / author(s) at the department/division of Central Food Technological Research Institute (CFTRI), Mysore mentioned below in this page
Severe and rare neurological manifestations following COVID-19 infection in children: A Malaysian tertiary centre experience
No full textIntroduction
Since the emergence of COVID-19, we have experienced potent variants and sub-variants of the virus with non-specific neurological manifestations. We observed a surge of the Omicron variant of COVID-19 patients with neurological manifestations where less cases of multisystem inflammatory syndrome in children (MIS-C) were reported. This article describes our experience of children with severe and rare neurological manifestations following COVID-19 infection.
Methods
This is a retrospective observational case series of patients under 18 years old who fulfilled the WHO COVID-19 case definition and were referred to our paediatric neurology unit at Hospital Tunku Azizah Kuala Lumpur. Their demographic data, neurological symptoms, laboratory and supporting investigations, neuroimaging, treatment and outcomes were collected and analysed.
Results
There were eleven patients with neurological manifestations who fulfilled the WHO COVID-19 case definition. Nine patients presented with seizures and/or encephalopathy, one patient with eye opsoclonus and another patient with persistent limbs myokymia. Based on the history, clinical, electrophysiological and radiological findings, two of them had febrile infection-related epilepsy syndrome, two had acute disseminated encephalomyelitis, two had acute necrotising encephalopathy of childhood, one each had hemiconvulsion-hemiplegia-epilepsy syndrome, acute encephalopathy with bilateral striatal necrosis, hemi-acute encephalopathy with biphasic seizures and reduced diffusion, infection-associated opsoclonus and myokymia.
Conclusions
This case series highlighted a wide spectrum of neurological manifestations of COVID-19 infection. Early recognition and prompt investigations are important to provide appropriate interventions. It is essential that these investigations should take place in a timely fashion and COVID-19 quarantine period should not hinder the confirmation of various presenting clinical syndromes
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: Possibility of distant parental consanguinity
No full textBernard-Soulier syndrome (BSS) is a rare autosomal recessive disorder characterized by a prolonged skin-bleeding time and thrombocytopenia with giant platelets. The hallmark of BSS is an abnormal platelet attachment to the vessel wall due to reduced or abnormal glycoprotein Ib-IX-V complex. We present a case of BSS in a 14-month-old boy caused by a novel genetic mutation. The patient has the typical clinical findings of BSS, but he was misdiagnosed for a long period. Evaluation of the peripheral blood smear revealed giant platelets and genetic testing confirmed the diagnosis of BSS. The child was found to be homozygous for a nonsense mutation (c.423CA) in the glycoprotein Ibβ (GPIbβ) gene. Knowing that we are dealing with a very rare syndrome, the detected mutation in our patient was homozygous. Although the parents were nonconsanguineous, we believe that they were related in a distant parental connection, which the parents and their family were not aware of. © 2012 Wolters Kluwer Health | Lippincott Williams and Wilkins.Bowers MJ, 2006, BLOOD COAGUL FIBRIN, V17, P409, DOI 10.1097-01.mbc.0000233372.33852.12; DELASALLE C, 1995, NOUV REV FR HEMATOL, V37, P215; Hillmann A, 2002, THROMB HAEMOSTASIS, V88, P1026; Kunishima S, 2006, EUR J HAEMATOL, V76, P348, DOI 10.1111-j.1600-0609.2005.00612.x; Kunishima S, 2002, INT J HEMATOL, V76, P319, DOI 10.1007-BF02982690; Lanza F, 2006, ORPHANET J RARE DIS, V1, DOI 10.1186-1750-1172-1-46; LOPEZ JA, 1992, J BIOL CHEM, V267, P12851; Lopez JA, 1998, BLOOD, V91, P4397; Pham A, 2007, ARCH PATHOL LAB MED, V131, P1834; Poujol CR, 2002, EXP HEMATOL, V30, P352, DOI 10.1016-S0301-472X(02)00774-9; Rand ML, 2010, AM J HEMATOL, V85, P584, DOI 10.1002-ajh.21768; Sachs UJH, 2003, BRIT J HAEMATOL, V123, P127, DOI 10.1046-j.1365-2141.2003.04554.x; Sandrock K, 2010, TRANSFUS MED HEMOTH, V37, P278, DOI 10.1159-000320255; Savoia A, 2011, HAEMATOL-HEMATOL J, V96, P417, DOI 10.3324-haematol.2010.032631; Strassel C, 2006, J THROMB HAEMOST, V4, P217, DOI 10.1111-j.1538-7836.2005.01654.x; Sumitha E, 2011, J THROMB HAEMOST, V9, P1590, DOI 10.1111-j.1538-7836.2011.04417.x11
