Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Opioids, barbiturates and volatile organic substances are the most common drugs used in Poland by addicts. In the literature there are no data concerning efficiency of vestibular organs of addicted persons examined during abstinence period. 74 drug addicts and 50 healthy persons were subjected to ENG examinations (spontaneous nystagmus, positional ny gaze ny, eye-tracking test, optokinetic test, rotatory test and caloric test were evaluated). ENG showed abnormal records in all tests performed in the addicted persons. This study has revealed that addicts have insufficiency of vestibular organs, which is probably a result of central lesions.
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PMID:[The efficiency of vestibular organs in persons addicted to opioids, barbiturates and volatile organic substances examined during the period of abstinence]. 130 52

The occurrence and genotype-phenotype correlations of the eight most common mutations in the arylsulfatase A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for mutations p.R84Q, p.S96F, c.459+1G>A, p.I179S, p.A212V, c.1204+1G>A, p.P426L, and c.1401-1411del allowed the identification of 53.5% of the mutant alleles. In the whole investigated group of patients, mutations c.459+1G>A and p.P426L were the most frequent, 19 and 17%, respectively. The prevalence of the third most frequent mutation, i.e. p.I179S (13%), seems to be higher than that in other populations. The incidence of c.1204+1G>A was 5%, which is higher than reported earlier (2%). It seems that p.I179S and c.1204+1G>A are more prevalent in MLD patients from Poland than from other countries. In the group examined by us, mutations p.R84Q, p.S96F, p.A212V, and c.1401-1411del were not detected; thus, 46.5% of MLD alleles remained unidentified. This indicates that other, novel or already described, but rare, mutations exist in Polish population. In late infantile homozygotes for c.459+1G>A and one homozygote for c.1204+1G>A, first clinical symptom was motor deterioration. In adult homozygotes for p.P426L, the disease onset manifested as gait disturbances, followed by choreoathetotic movements, difficulties in swallowing, dysarthria, tremor, and nystagmus. In the carriers of the p.I179S mutation, the hallmark of the clinical picture was psychotic disturbances.
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PMID:Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. 1595 86

Green tobacco sickness (GTS) is an illness associated with exposure to nicotine originating directly from the growing tobacco plant. The exposure takes place in the course of activities during tobacco farming. Nausea, vomiting, headache and dizziness are the symptoms typical of GTS. The GTS cases have been most commonly reported in the USA, Japan, India and Italy. The first case of GTS in Poland has been diagnosed in a young man working on a Virginia bright tobacco plantation. The patient had symptoms typical of GTS. The toxicological analysis of urine demonstrated the presence of cotinine at the level of 869 ng/ml. Intravenous fluids, anticholinergic agents and potassium supplementation were used in the treatment. Interestingly, diplopia at the initial stage of tobacco poisoning and horizontal nystagmus, which resolved on the 2nd day of hospital stay were observed. We believe that cases of GTS occur in Poland; however patients do not seek medical care. Given that the majority of activities during tobacco farming in Poland are performed manually, it seems necessary to launch a public awareness campaign on GTS and decontamination methods.
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PMID:Green tobacco sickness in Poland. 1951 50

Gammabutyrolactone is included in the solvent such as wheel cleaners, pesticides, cosmetics, drugs. After ingestion GBL is converted to gamma-hydroxybutyrate. Both substances are classified as so called "club drugs" and their action is characterized by euphoria, sedation, and induction of retrograde amnesia of events. These activities were basis for the use of GHB and its lactone as rape pill. Acute poisoning with these compounds causes confusion, agitation, ataxia, nausea, vomiting, nystagmus, dyskinesia, hallucinations, coma, irregular breathing, hypothermia, bradycardia, hypotension, convulsions, respiratory paralysis and thus respiratory arrest. These substances carry a risk of development of physical addiction of the hard proceeding of abstinence syndrome. In the USA there is a ban on the sale and promotion of these compounds. In Poland despite the fact that GHB is a controlled substance, there is no regulation of GBL trading. The aim of this paper is to summarize current knowledge regarding the pharmacology, impact on the human body, toxicity, and the effects of chronic abuse of these substances.
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PMID:[Gamma-hydroxybutyrate (GHB) and its lactone (GBL) as psychoactive substances]. 2324 24

The purpose of this study was to perform an ophthalmological assessment in children with intracranial cysts and to assess the correlation between the occurrence of cysts and visual disorders. The documentation of 46 children with intracranial cysts, monitored by the Children's Outpatient Ophthalmology Clinic, Poznan, Poland was analysed. The best corrected visual acuity (BCVA), the alignment of the eyes, visual evoked potentials (VEP), comprehensive eye examination were performed in all patients. Additional ophthalmological tests were conducted to eliminate other causes of decreased visual acuity.Included in the final analysis were 26 children (52 eyes). The average age at the last visit was 10.3 years. Sixteen children (61.5%) had arachnoid cysts located in the posterior cranial fossa, 3 children (11.5%) in the middle cranial fossa, while 7 children (27%) had a pineal cyst. Decreased BCVA was found in 13 children, abnormal VEP in 13, strabismus in 14 patients (53.9%), nystagmus in 5 patients (19.2%), and double vision in 2 patients (7.7%). Numerous visual disorders in children with intracranial cysts suggest the necessity to carry out enhanced ophthalmological diagnostics in these patients. In the examined patient group, visual disorders occurred mostly in the case of arachnoid cysts of the posterior fossa.
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PMID:Ophthalmological symptoms in children with intracranial cysts. 2905 39