gerstmann-straussler-scheinker disease/feber

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[Analysis of SNPs and enzymatic disorder in the patients of influenza-associated encephalopathy: disorder of fatty acid metabolism in mitochondria induced by high fever].

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To assess the etiology of influenza-associated encephalopathy(IAE), a surveillance effort was conducted during 2000-2005 in Japan. Over half of fatal and handicapped IAE patients exhibited a disorder of mitochondrial beta-oxidation and ATP generation evoked by the thermolabile phenotype of carnitine

[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants].

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Objective: To characterize fever-induced paroxysmal weakness and encephalopathy (FIPWE) caused by ATP1A3 gene pathogenic variant. Methods: Phenotypic and genotypic characteristics of 4 FIPWE patients (3 boys and 1 girl), who were ascertained from October 2016 to March 2018 in Beijing

[Recurrent fever related to dantrolene sodium in a girl with sequelae of acute encephalopathy].

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A fever of unknown origin developed in a patient with sequelae of acute encephalopathy who had received dantrolene for severe spasticity. A chronic subdural hematoma was found on MRI, and initially it was suspected that the patient had an intracranial infection. However, close investigation ruled

Can fever treat epileptic encephalopathies?

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OBJECTIVE To describe resistant epileptic encephalopathies that significantly improved after an acute febrile episode (FE). METHODS We reviewed the clinical history of patients with daily pharmacoresistant seizures referred to the Saint-Vincent de Paul Hospital in the last 5 years. Four patients

Primary sequence of the envelope glycoprotein of a dengue type 2 virus isolated from patient with dengue hemorrhagic fever and encephalopathy.

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Dengue viruses exist in nature as a collection of highly similar but not identical members (quasispecies). In order to correlate the presence of viral quasispecies with rare occurrence of unusual clinical manifestations in dengue-infected individuals, a dengue type 2 virus was isolated from the

Differentiation of typhoid fever from fulminant hepatic failure in patients presenting with jaundice and encephalopathy.

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OBJECTIVE To determine the clinical and laboratory features that allow the early diagnosis of typhoid fever in patients who present with jaundice and encephalopathy. METHODS This 12-month prospective study, conducted in Bangalore, India, between 1990 and 1991, evaluated the clinical and laboratory

Posterior Reversible Encephalopathy Syndrome in a Patient with Hemorrhagic Fever with Renal Syndrome.

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We presently report the case of hantavirus infection in a 45-year-old male who was hospitalized to our clinic of infectious diseases, with fever, myalgia, vomiting, nausea, headache, and abdominal pain. The physical findings included hepatomegaly, splenomegaly, rash, and conjunctival injection.

Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES).

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Fever-induced refractory epileptic encephalopathy in school-age children (FIRES) is a clinically recognized epileptic encephalopathy of unknown aetiology. Presentation in previously healthy children is characterized by febrile status epilepticus. A pharmacoresistant epilepsy ensues, occurring in

Severe fever with thrombocytopenia syndrome with myocardial dysfunction and encephalopathy: A case report.

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Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease in China, Korea and Japan caused by a novel bunyavirus, SFTS virus (SFTSV). Although central nervous system manifestations are common in SFTS patients, the pathogenesis has not been elucidated; and there are few

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES).

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OBJECTIVE Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition initiated by prolonged perisylvian refractory status epilepticus (SE) triggered by fever of unknown cause. SE may last more than 1 month, and this condition may evolve into

Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis Presenting with Fever and Confusion.

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Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) is a diagnostic conundrum as it may present with a myriad of nonspecific clinical features and laboratory and neuroimaging investigations are not diagnostic. We report a case of a 65-year-old female who presented with

[ANATOMOHISTOPATHOLOGIC STUDY OF THE ENCEPHALOPATHY OF THE EPIDEMIC FEVER OF THE NORTHEAST OF THE PROVINCE OF BUENOS AIRES (R. A.). A: GENERAL ANATOMOHISTOPATHOLOGIC STUDY. B: LAFORA'S AMYLOID BODIES. C: INTRANUCLEAR CORPUSCLES IN THE NEURONS].

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Exchange transfusion of a patient with fulminant Lassa fever.

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We report a patient with fulminant Lassa fever who responded dramatically to a 2.5-litre exchange transfusion of whole blood. On admission he was semicomatose with facial oedema and oral haemorrhage; his platelets showed markedly depressed aggregation to ADP; and his plasma inhibited the aggregation

The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.

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Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a

Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

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To assess the etiology of influenza-associated encephalopathy (IAE), a surveillance effort was conducted during 2000-2003 in South-West Japan. All fatal and handicapped patients except one (4/34 patients) exhibited a disorder of mitochondrial beta-oxidation evoked by the inactivated carnitine

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