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)

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference less than 10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A "triangular" face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.
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PMID:Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. 141 51

A previously healthy man presented with a five day history of high fever and headache, later followed by rash and the appearance of jaundice. On the second hospital day, he suddenly developed seizures, lapsed into a coma, and died. Polymerase chain reaction (PCR) amplification revealed a 434 base pairs DNA fragment common to the genome of typhus and spotted fever group rickettsiae in the patient's blood (estimated at about 1 x 10(2) organisms/ml), and to a lesser degree in the cerebrospinal fluid. However, serological tests for rickettsiae remained negative. PCR techniques may confirm the diagnosis at an early stage, even though the rickettsemia may be minimal and the patient seronegative.
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PMID:Case report: fatal seronegative rickettsial infection diagnosed by the polymerase chain reaction. 160 68

This study has examined cellular and molecular aspects of glial cell function in a newly described long-lived myelin deficient rat mutant. In contrast to the shorter-lived mutants which died at 25-30 days, the longer-lived mutant rats lived to 75-80 days of age. Despite living longer, these mutants had a similar frequency of seizures to their younger counterparts. In the spinal cord and optic nerves of the older mutants, myelinated fibres in similar numbers to those seen in the younger myelin deficient rats were present. However, the total glial cell numbers were markedly reduced with few remaining normal appearing oligodendrocytes, and very few microglia compared to the younger mutants. In addition, little or no cell death or division was seen in the longer-lived rats. However, there was some evidence of ongoing myelination and the persistence of immature oligodendrocytes or their progenitors in the older mutant. There was some continued myelin gene expression, although this was at much reduced levels compared to normal, with proteolipid protein and myelin basic protein being most affected. In situ hybridization analysis for proteolipid protein mRNA showed that few proteolipid protein expressing oligodendrocytes remained in the 70-80-day-old mutant. Polymerase chain reaction analysis of exon 3 of the long-lived mutant revealed the same point mutation as described in the younger myelin deficient rat.
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PMID:Oligodendrocyte survival and function in the long-lived strain of the myelin deficient rat. 858 95

We report the extraordinary association of hemimegalencephaly with chronic encephalitis and cytomegalovirus (CMV) positivity in a 5-month-old infant with intractable seizures and a left hemisphere resection. Microscopy revealed a severe neuronal migration disorder (NMD) with fusion of gyri, marked disarray of neuronal lamination, neuronal gigantism and extensive neuronal heterotopias. Also widespread were microglial nodules, gliosis and nodular calcifications and some foci of frank necrosis with calcification. Occasional perivascular and leptomentingeal lymphocytic infiltrates were present. No viral inclusions were identifiable. Polymerase chain reaction on multiple specimens showed unequivocal CMV positivity. In intrauterine CMV infection. NMDs such as polymicrogyria are well recognized, but the association of hemimegalencephaly with CMV infection has not previously been described. Our finding of chronic encephalitis with CMV positivity and hemimegalencephaly in the same patient raises questions about the role of CMV in the etiopathogenesis of the NMD.
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PMID:Coexistence of hemimegalencephaly and chronic encephalitis. Detection of cytomegalovirus by the polymerase chain reaction. 908

The authors report on a Japanese adult male patient with a long history of partial seizures that were poorly controlled by conventional doses of phenytoin and other drugs. His treatment was complicated by toxic symptoms and an excessive serum phenytoin concentration, 32.6 microg/mL at a dose of 187.5 mg/day. Polymerase chain reaction-restriction fragment length polymorphism analysis disclosed heterozygosity involving cytochrome P450 subfamilies 2C9 (*1/*3) and 2C19 (*1/*3). Currently, it is generally accepted that the former mutation is responsible for the CYP2C9 poor metabolizer phenotype. Pharmacokinetic parameters were estimated by a kinetic analysis, MULTI, using 17 observed dose-concentration data sets: a lower Vmax (5.6 mg/kg/day) and a higher Km (11.5 microg/mL) were observed. Although phenytoin is metabolized predominantly by CYP2C9 with a minor contribution of CYP2C19, patients with the Leu359 variant should be monitored closely when treated with a moderate to high daily dose of phenytoin.
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PMID:Genetic polymorphism of the CYP2C subfamily and excessive serum phenytoin concentration with central nervous system intoxication. 1077 39

Febrile convulsions (FCs) represent the majority of childhood seizures, and patients have a genetic predisposition to their development. The genetic susceptibility to FCs seems to involve multiple genes in most instances. Recent studies provided evidence that mutations in SCN1A represent the most frequent cause of generalized epilepsy with febrile seizures plus an autosomal-dominant epilepsy syndrome. SCN1A mutations alter channel inactivation, resulting in persistent inward sodium current. It is not known if polymorphisms in those genes involved in familial epilepsies also contribute to the pathogenesis of FCs. By performing an association study, we used single nucleotide polymorphisms to investigate the distribution of genotypes of SCN1A in patients with FCs. A total of 104 Taiwanese children with FCs and 83 normal control subjects were included in the study. Polymerase chain reaction was used to identify the A/G polymorphism of the SCN1A gene. The results showed that genotypes and allelic frequencies for the SCN1A gene polymorphisms in both groups were not significantly different. These data suggest that the SCN1A gene might not be one of the susceptibility factors for FCs. Pure FCs and febrile convulsions associated with idiopathic generalized epilepsy may not share a common genetic etiology.
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PMID:The lack of association between febrile convulsions and polymorphisms in SCN1A. 1274 96

The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is to establish whether the monogenic epilepsy gene also contributes to the common epilepsies. Because febrile seizures represent the majority of childhood seizures, and a genetic predisposition, we investigated the possibility that the nicotinic acetylcholine receptor beta 2 subunit might be involved in the etiology of febrile seizures. Children were divided into two groups: those with febrile seizures (group 1; n = 104) and control patients (group 2; n = 83). Polymerase chain reaction was used to identify the G/C and T/C polymorphisms of the nicotinic acetylcholine receptor beta 2 subunit gene, which is mapped on chromosome 1. Genotypes and allelic frequencies for nicotinic acetylcholine receptor beta 2 subunit gene polymorphisms in both groups were compared. The results indicated that genotypes and allelic frequencies in both groups were not significantly different. These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility to febrile seizures.
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PMID:Association of the nicotinic receptor beta 2 subunit and febrile seizures. 1503

During a canine distemper virus (CDV) outbreak in raccoons (Procyon lotor) from Cook County, Illinois, a juvenile female suffering from seizures was killed and necropsied. Gross and histologic findings of necrotizing encephalitis and proliferative bronchopneumonia were attributed to CDV infection and considered the cause of clinical signs. A section of cerebellum stained immunohistochemically for Neospora caninum revealed an approximately 40 microm diameter, round to oval cyst with a 2- to 3-microm-thick wall and filled with 1-2 microm diameter, round to oval bradyzoites. Polymerase chain reaction (PCR) results were positive for N. caninum using DNA extracted from the brain. Specific PCR for the closely related organisms Toxoplasma gondii and Hammondia heydorni yielded negative results. This case report provides histologic, immunohistochemical, and molecular evidence that raccoons are a naturally occurring intermediate host of N. caninum.
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PMID:Neospora caninum infection in a free-ranging raccoon (Procyon lotor) with concurrent canine distemper virus infection. 1708 76

Subdural empyema is an unusual complication of meningococcal meningitis, and in acute cases can be rapidly fatal. We present a case of an 8 week old infant who presented with atypical Neisseria meningitis with bifrontal subdural empyema formation. Through the utilisation of modern polymerise chain reaction tests on cerebrospinal fluid samples, we were able to confirm the diagnosis and institute appropriate treatment. Early surgical intervention and appropriate intravenous antibiotics meant that the patient fully recovered. In summary, early treatment of meningitis without adequate microbiological investigations can complicate later diagnosis of subdural empyema. Early suspicion of empyema should be considered when patient fails to improve after 48 hrs, seizures are a late sign and gives a poorer prognosis. Computed tomography scanning is still the modality of choice although in this case, magnetic resonance imaging had its benefits. Polymerase chain reaction of cerebrospinal fluid testing may also provide an important confirmatory test in future.
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PMID:An unusual case of meningococcal meningitis complicated with subdural empyema in a 3 month old infant: a case report. 2018 Nov 46

Tuberculosis can involve any organ system of the body. Although rare tuberculosis of nervous system (NS) is not uncommon in our country. In the nervous system tubercle bacilli can cause tuberculous meningitis, abscess , tuberculoma in brain & spinal cord. Untreated Central Nervous System (CNS) tuberculosis is devastating. Early diagnosis & prompt treatment of NS is essential to avoid morbidity & mortality. Tubercle bacilli causes chronic caseating granulomatous lesion. Tubercular meningitis presents with fever, headache, neck stiffness & cranial nerve palsy. Tuberculoma may present with headache, seizure and focal deficit. In the spinal cord tuberculoma or tubercular abscess may result in para paresis or quadri-paresis. For diagnosis of nervous system tuberculosis CSF analysis and neuroimaging are important. CSF cell count, Gram staining, Culture and Polymerase Chain Reaction (PCR) are helpful for diagnosis. Imaging helps in the diagnosis of tuberculoma and tubercular abscess. Computed tomography (CT) guided Fine Needle Aspiration for Cytology (FNAC) helps to establish the histopathological diagnosis. Use of combination antitubercular drugs for long period (12-18 months) is necessary to treat nervous system tuberculosis.
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PMID:Tuberculosis of the central nervous system. 2039 33


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