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)

An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.
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PMID:Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. 40 3

The tetrahydrocannabinol (THC) content of more than 180 samples of fresh illicit Cannabis products, seized by H.M. Customs and Excise on entry into Great Britain and Northern Ireland over the period 1984-1989, has been determined by gas chromatography. The average THC content of herbal cannabis remained high due to good quality cannabis from Jamaica and the USA, but that of cannabis resin was slightly lower. Resin from Morocco has changed significantly in its physical appearance. There was no fresh seizure of cannabis oil in this period.
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PMID:Variation in the THC content of illicitly imported Cannabis products--1984-1989. 198 41

Cannabis plants have been grown in the United Kingdom of Great Britain and Northern Ireland from seeds taken from seizures of cannabis of known geographical origin and chemistry. The gross physical appearance and cannabinoid patterns of many of the cannabis samples produced in the United Kingdom were closely related to those of the parents. However, some notable exceptions were recorded. There were wide variations in actual tetrahydrocannabinol content between plants grown from different seedstock and rather smaller variations within the groups grown from the same seedstock. Cannabis produced in the united Kingdom and higher tetrahydrocannabinolic acid/tetrahyrocannabinol ratios than imported material.
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PMID:The physical and chemical features of Cannabis plants grown in the United Kingdom of Great Britain and Northern Ireland from seeds of known origin. 629 77

Samples taken from over 200 seizures of imported illicit heroin preparations of known geographical origin have been examined by gas liquid chromatography (GLC). The chromatographic characteristics were considered in conjunction with the physical appearance of the materials and it was found possible in many instances to discriminate between samples of different origin. Thus by carrying out GLC and HPLC and a visual inspection on a sample of unknown provenance, it may be possible to give an opinion as to its geographical origin.
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PMID:Illicitly imported heroin products: some physical and chemical features indicative of their origin. 674 89

Samples taken from seizures of illicitly imported cannabis and cannabis resin of known geographical origin have been examined by thin-layer chromatography. The chromatographic characteristics were considered in conjunction with the gross physical appearance of the materials and it was found possible to discriminate between samples of different origin. Thus by carrying out thin-layer chromatography and a visual inspection on a sample of unknown provenance, an opinion as to its geographical origin can be offered. Extensive use is made of a reference collection of samples.
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PMID:Illicitly imported Cannabis products: some physical and chemical features indicative of their origin. 690 24

The stability of tiagabine hydrochloride in two extemporaneously prepared oral suspensions stored at 4 and 25 degrees C for three months was studied. Tiagabine is used for adjunctive therapy for the treatment of refractory partial seizures. It is currently available in a tablet dosage form, which cannot be used in young children who are unable to swallow and given doses in milligrams per kilogram of body weight. No stability data are available for tiagabine in any liquid dosage form. Five bottles contained tiagabine 1 mg/mL in 1% methylcellulose:Simple Syrup, NF (1:6), and another five bottles had tiagabine 1 mg/mL in Ora-Plus:Ora-Sweet (1:1). Three samples were collected from each bottle at 0, 7, 14, 28, 42, 56, 70, and 91 days and analyzed by a stability-indicating high-performance liquid chromatographic method (n = 15). At 4 degrees C, the mean concentration of tiagabine exceeded 95% of the original concentration for 91 days in both formulations. At 25 degrees C, the mean concentration of tiagabine exceeded 90% of the original concentration for 70 days in Ora-Plus:Ora-Sweet formulation and for 42 days in 1% methylcellulose:syrup formulation. No changes in pH or physical appearance were seen during this period. The stability data for two formulations would provide flexibility for compounding tiagabine. Tiagabine hydrochloride 1 mg/,mL in extemporaneously prepared liquid dosage forms and stored in plastic bottles remained stable for up to three months at 4 degrees C and six weeks at 25 degrees C.
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PMID:Stability of tiagabine in two oral liquid vehicles. 1253 80

Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13. Most patients with Angelman syndrome present with severe mental retardation, characteristic physical appearance, behavioral traits, and severe, early-onset epilepsy. We retrospectively reviewed the medical histories of 37 patients, all with the molecular diagnosis of Angelman syndrome and at least three years of follow-up in our neurology department, for further information about their epilepsy: age of onset, type of seizures initially and during follow-up, EEG recordings, treatments and response. The molecular studies showed 87% deletions de novo, 8% uniparental, paternal disomy, and 5% imprinting defects. The median age at diagnosis was 6.5 years, with 20% having begun to manifest febrile seizures at an average age of 1.9 years. Nearly all (95%) presented with epilepsy, the majority under the age of three (76%). The most frequent seizure types were myoclonic, atonic, generalized tonic-clonic and atypical absences. At onset, two patients exhibited West syndrome. EEG recordings typical of Angelman syndrome were found in 68%. Normalization of EEG appeared in 12 patients after nine years. Control of epileptic seizures improved after the age of 8.5 years. The most effective treatments were valproic acid and clonazepam. We conclude that epilepsy was present in nearly all of our cases with Angelman syndrome, and that the EEG can be a useful diagnostic tool. On comparing the severity of epilepsy with the type of genetic alteration, we did not find any statistically significant correlations.
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PMID:Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. 1637 55

Methamphetamine is a stimulant commonly abused in many parts of the United States. Most methamphetamine users are white men 18 to 25 years of age, but the highest usage rates have been found in native Hawaiians, persons of more than one race, Native Americans, and men who have sex with men. Methamphetamine use produces a rapid, pleasurable rush followed by euphoria, heightened attention, and increased energy. Possible adverse effects include myocardial infarction, stroke, seizures, rhabdomyolysis, cardiomyopathy, psychosis, and death. Chronic methamphetamine use is associated with neurologic and psychiatric symptoms and changes in physical appearance. High-risk sexual activity and transmission of human immunodeficiency virus are also associated with methamphetamine use. Use of methamphetamine in women who are pregnant can cause placental abruption, intrauterine growth retardation, and preterm birth, and there can be adverse consequences in children exposed to the drug. Treatment of methamphetamine intoxication is primarily supportive. Treatment of methamphetamine abuse is behavioral; cognitive behavior therapy, contingency management, and the Matrix Model may be effective. Pharmacologic treatments are under investigation.
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PMID:Methamphetamine abuse. 1799 Aug 40

The purposes of this study were to (1) compare self-esteem in teens with epilepsy to the normative mean, and (2) identify which neurologic/epilepsy and social/familial variables are associated with self-esteem. Thirty-seven adolescents (aged 12-18 years) attending a pediatric neurology clinic completed the Piers-Harris 2 Self-Concept Scale, Family Assessment Measure III, Child Attitude to Illness Scale, and a brief questionnaire about current seizure status (frequency, severity, and number of antiepileptic drugs). Neurology clinic charts were reviewed for seizure types, etiology, age at diagnosis, and number of failed therapies. While Total Piers-Harris t score and most subscales did not differ significantly from the normative mean, teens with epilepsy had higher scores on Behavioral Adjustment (P < 0.04) and Physical Appearance and Attributes (P < 0.03). On univariate analysis, number of current antiepileptic drugs (P < 0.05) and Attitude to Illness and Family Function scores (P < 0.02 for both) were significantly associated with self-esteem. On linear regression analysis, only the Family Function score (P < 0.02) and number of antiepileptic drugs (P < 0.05) were associated with total self-concept. We conclude that self-concept in teens with epilepsy is most strongly associated with Family Function. With the exception of current number of antiepileptic drugs used, epilepsy-specific factors are of minimal importance.
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PMID:Self-concept in adolescents with epilepsy: biological and social correlates. 1841 Aug 49

X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almond-shaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and distinct from Lujan-Fryns syndrome, Snyder-Robinson syndrome, and zinc finger DHHC domain-containing 9-associated MR. We propose the name of this new syndrome to be CK syndrome.
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PMID:Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 1984 90


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