Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into generalized status epilepticus. Treatment with multiple antiepileptic medications and the ketogenic diet eliminated her seizures, but she remained severely encephalopathic. Magnetic resonance imaging showed diffuse atrophy of gray-matter structures. She ultimately developed liver failure and died. Mitochondrial analysis revealed compound heterozygosity for 3 POLG gene mutations, 2 of which were previously unreported.
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PMID:Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease. 2043

Acute encephalitis can be due to many causes, although most are viral, and is a medical emergency. A significant percentage remains without a definitive diagnosis due to the large number of etiologic agents. The single most frequent cause of sporadic encephalitis around the world is herpes simplex virus type 1, although in certain locations diverse local agents should be considered such as West Nile virus or tick-borne encephalitis, among others. Patients with encephalitis require intense care measures with special emphasis on respiratory problems secondary to a depressed level of consciousness, seizures, and intracranial hypertension due to cerebral edema. Herpes encephalitis has an incidence of 4 cases per million inhabitants. Clinical presentation, together with electroencephalography, magnetic resonance imaging and cerebrospinal fluid (CSF) findings are critical to establish a diagnosis. Polymerase chain reaction (PCR) in CSF is highly sensitive and specific (> 95%), but the results can be negative during the first 3 days of the disease. The treatment of choice is currently acyclovir 10 mg/kg/8 h for 10-21 days. Whenever resistance is suspected, foscarnet is an alternative. The family of arboviruses represents another important etiologic group of encephalities. These are zoonotic diseases transmitted by mosquitoes or ticks and include alphaviruses, bunyaviruses (Toscana virus and others) and flaviviruses. The West Nile virus belongs to the latter group. There is no specific therapy and diagnosis is based on serology and PCR depending on the suspected virus.
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PMID:[Acute encephalitis]. 2112 92

The reactivation of human herpesvirus 6 (HHV-6) in patients with AIDS can result in an acute and severe diffuse meningoencephalitis. We describe the epidemiological, clinical and outcome findings of five patients with diagnosis of HIV/AIDS and central nervous system involvement (CNS) due to HHV-6. Fever was present in all the patients. Meningeal compromise, seizures and encephalitis were present in some of the patients. Polymerase chain reaction (PCR) of cerebrospinal fluid (CSF) specimens was positive for HHV-6 in all the patients. HHV-6 should be included among opportunistic and emerging pathogens that involve the CNS in patients with AIDS.
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PMID:Human herpesvirus 6: report of emerging pathogen in five patients with HIV/AIDS and review of the literature. 2186 Sep 5

Central nervous system herpes simplex virus infection is suspected in patients presenting with acute-onset seizures and lethargy. The potential neurologic sequelae from untreated herpes infection can prompt empirical acyclovir therapy, even in afebrile subjects. The objectives of this study were to determine the frequency of central nervous system herpes simplex virus infection in children presenting with afebrile seizures and to assess the need for empirical acyclovir therapy. Clinical and laboratory data of children with acute-onset afebrile seizures and children with central nervous system herpes simplex virus infection were compared. Polymerase chain reaction and viral cultures of the cerebrospinal fluid for herpes simplex virus infection were negative in all subjects with afebrile seizures; 32.7% of these subjects were empirically treated with acyclovir. In conclusion, central nervous system herpes simplex virus infection is uncommon in children presenting with afebrile seizures, and acyclovir therapy is rarely necessary in subjects with normal neurologic examination and cerebrospinal fluid analysis.
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PMID:Central nervous system herpes simplex virus infection in afebrile children with seizures. 2194 Jun 89

In this paper we describe analyses performed by Real-Time Reverse-Transcriptase Polymerase Chain Reaction (real-time RT-PCR) on RNA of 12 samples, carried out for forensic purposes to investigate a correlation between tetrahydrocannabinol (THC) concentration in Cannabis and the tetrahydrocannabinol acid synthase (THCAS) gene expression. Samples were obtained from an experimental cultivation of declared potency Cannabis variety seeds and from seizures. The Rubisco gene and the 26S ribosomal RNA gene were used as internal control genes for their constant expression and stability. As results we found minor gene expression in samples from leaves of young plants. Further, grouping results for cannabis samples with similar characteristics, we have found an increased relative expression in samples with the highest percentage of THC coming from seized sample and adult plants.
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PMID:Analysis of THCA synthase gene expression in cannabis: a preliminary study by real-time quantitative PCR. 2389 Jun 39

Neonatal Herpes Simplex Virus (HSV) infection is a serious illness with significant mortality and morbidity for disseminated disease. Clinical diagnosis of neonatal HSV infection is often difficult without evidence of HSV exposure, for example, absence of a rash or the presence of non-specified manifestations in an infant. Early recognition and treatment with high-dose Acyclovir may dramatically improve the short and long-term outcomes. We describe an infant with disseminated disease due to HSV-1 infection, who first presented clinical and radiologic features of pneumonia. The diagnosis was performed post-mortem by Real-Time Polymerase Chain Reaction (PCR) analysis of blood, cerebrospinal fluid and pleural liquid of the infant. Tissue PCR revealed a disseminated HSV-1 infection, with a high viral load detected in liver, lungs, brain, heart, striated muscle, kidneys, and thymus tissues. This case report highlights the need for neonatologists to raise awareness about the different clinical manifestations of disseminated neonatal HSV infection. HSV infections should be prominent in the differential diagnosis of an infant under four weeks of age with fever, pneumonia, unexplained seizures or sepsis-like disease, particularly if unresponsive to antibiotics. Early initiation of appropriate antiviral therapy for high-risk infants undergoing testing for HSV infection can be essential to prevent significant morbidity and mortality.
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PMID:Herpes Simplex Virus 1 infection: misleading findings in an infant with disseminated disease. 2391 73

Invasive meningococcal disease (IMD) is a major public health and continues to cause substantial mortality and morbidity. Serotype C is the most frequent in Brazil. The clinical spectrum of IMD is broad (meningitis, meningococcemia or both) and the clinical evolution may be unpredictable. Main features associated with mortality are: age higher than 50 years old, seizures, shock, and meningococcemia without meningitis. Blood cultures should be obtained immediately. Lumbar puncture can be performed without previous computed tomography scan (CT) in most cases. Clinical features can be useful to predic patients where an abnormal CT scan is likely. Cerebrospinal fluid (CSF) culture and Gram stain should always be required. Latex agglutination sensitivity is highly variable. Polymerase chain reaction is specially useful when other methods are negative or delayed. Usually ceftriaxone should not be delayed while awaiting CSF study or CT. Dexamethasone can be used in meningococcal meningitis. Early suspicion of IMD and antibiotic in primary care before hospitalization, rapid transportation to a hospital, and stabilization in an intensive-care unit has substantially reduced the case-fatality rate. Vaccines against serotypes A, C, W-135, and Y are available while vaccines against serotype B are expected.
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PMID:Invasive meningococcal disease. 2414 98

Despite the particular susceptibility of the rabbit to experimental infection with Human herpesvirus 1 (HHV-1) and the high seroprevalence of HHV-1 in human beings, reports of natural infection in pet rabbits are rare. The current report describes 2 cases of HHV encephalitis in pet rabbits in North America. Antemortem clinical signs included seizures, ptyalism, and muscle tremors. Results of complete blood cell count and plasma biochemistry panel were unremarkable except for a mild leukocytosis in both cases. Both rabbits died after a short period of hospitalization. Rabbit 1 presented mild optic chiasm hemorrhage on gross examination, while rabbit 2 had no gross lesions. Histologic findings for both cases included lymphocytic and/or lymphoplasmacytic encephalitis with necrosis and the presence of intranuclear inclusion bodies in neurons and glial cells. Polymerase chain reaction (PCR) analysis of affected brain tissue using primers specific for Human herpesvirus 1 and 2 confirmed diagnosis of HHV encephalitis for rabbit 1. Immunohistochemical staining (poly- and monoclonal) and PCR analysis using primers specific to HHV-1 confirmed the diagnosis of HHV-1 encephalitis for rabbit 2. The owner of rabbit 2 was suspected to be the source of infection due to close contact during an episode of herpes labialis. Given the high susceptibility of rabbits to experimental HHV-1, high seroprevalence of HHV-1 in human beings, and severity of clinical disease in this species, clinician awareness and client education is important for disease prevention. Human herpesvirus 1 encephalitis should be considered as a differential diagnosis for rabbits with neurologic disease.
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PMID:Spontaneous fatal Human herpesvirus 1 encephalitis in two domestic rabbits (Oryctolagus cuniculus). 2508 71

Polymerase chain reaction (PCR) tests for virus in blood and saliva are frequently positive in persons with past infection, re-infection with new strains or latency with or without repeated reactivation of human herpesvirus 6 (HHV6). The aim of this study is to determine the frequency of HHV6 infections in children aged two years or under with an initial diagnosis of fever during an evaluation in the paediatric emergency department of the Children's Medical Center, an Iranian referral hospital, using PCR methodology. In all children, the clinical characteristics noted at the initial evaluation as well as demographic and laboratory findings were obtained. Among 150 patients (91 male, 59 female) admitted to the paediatric emergency department, HHV6 was found in 49 (33%; 14 female [29%] and 35 male [71%]). Rash was seen in 14/49 (29%) of HHV6-positive cases, while 35 cases without rash had a positive PCR test (71%). Seizures were found in 78/150 (52%) patients. There was no significant association between seizures and positive HHV6 results (43% in patients without seizure; 57% in cases that developed seizure). Although standard PCR on samples including blood cannot discriminate between latent and active HHV6 infection, nearly a third of patients (mainly children less than one year old) had HHV6 infection.
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PMID:Human herpesvirus 6 infection in febrile children: frequency in an Iranian referral hospital. 2526 55

This study investigated whether apolipoprotein 4 (ApoE4) was associated with the presence of human herpes virus (HHV)-6B in mesial temporal lobe epilepsy (MTLE). Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) was used to determine ApoE polymorphism in 46 patients with MTLE and 19 controls. Nested PCR and real-time PCR were applied to determine HHV-6B DNA and immunohistochemistry (IHC) for HHV-6B protein. Viral DNA load was significantly increased in MTLE patients with HHV-6B(+)/ApoE4 compared with those with HHV-6B(+)/non-ApoE4 (p=0.031). Semi-quantitative analysis of IHC showed significantly increased number of positive cells for HHV-6B proteins G116/64/54, P98 and U94 in patients with HHV-6B(+)/ApoE4 than HHV-6B(+)/non-ApoE4 (p=0.009, 0.035 and 0.009, respectively). Patients with HHV-6B(+)/ApoE4 showed higher seizure frequency than those with HHV-6B(+)/non-ApoE4 (p=0.005). There was no significant difference of ApoE alleles between MTLE with and without HHV-6B (p=0.115). ApoE4 was not associated with initial infection of HHV-6B in MTLE. However, ApoE4 may facilitate HHV-6B reactivation, DNA replication, virus protein expression and increase seizure frequency in MTLE. Further investigations are needed to understand the biomolecular mechanism underlying interaction between ApoE and HHV-6B.
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PMID:Apolipoprotein 4 may increase viral load and seizure frequency in mesial temporal lobe epilepsy patients with positive human herpes virus 6B. 2557 4


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