Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.10.1 (ERK)
 95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An information about the experience with DILATOL-treatment of 11 patients suffering from EPH-gestosis with hypertonia as the main symptom, is given. In all cases it was possible to reduce the systolic and diastolic blood-pressure. In long-time treatment an increasing resistance to therapy was noticed. In any case the treatment has to be combined with a frequent medical control of the gravidity with respect to the foetus and the placenta, to determine the right moment of the premature finishing of the gravidity, which is often necessary. Although no child of our 11 patients, died, it wasn't possible to prove the fact, that the perinatal mortality in the case of heavy EPH-gestosis after treating with beta-adrenergic substances is reduced. There weren't noticed any detrimental consequences to mother and child after treating with DILATOL within a space of time up to 4 weeks up to a total amount of 500 mg.
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PMID:[Clinical experience with Dilatol therapy in EPH-gestoses]. 118 72

Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder.
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PMID:Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. 135 35

Pregnancy in woman with epilepsy arouses several serious medical problems and always belongs to the group of high obstetric risks. The aim of the present clinical study was the evaluation of the antiepileptic treatment efficiency during pregnancy, including risk factor, effects on pregnancy and delivery in epileptic patients. The study group consisted of 84 epileptic pregnant women which delivered between 1992-1998 in Obstetric Departments of University Medical School of Lublin. A randomised group 80 healthy pregnant women constituted the control group. The mean age of the analysed patients was 25 years. 51 epileptic patients were pregnant for the first time, 23 patients for the second time and 10 patients for the third time or more. The mean duration time of the disease was 8.6 years. In our study group: 45 (53.8%) patients experienced primary generalized tonic-clonic seizures and 39 (46.6%) patients experienced partial seizures. 26 patients were treated with monotherapy and the rest with polytherapy methods. The estimation of the seizure frequency during pregnancy in 52 (61.9%) patients did not change, in 13 (15.4%) patients increased. Among obstetric complications: urinary tract infections, hypertonia (EPH-gestosis) were observed. In 4 newborn congenital defects have been noted. Mothers of three of them were treated with Phenydantin (heart lesion, developmental anomaly of fingers). The fourth mother used Convulex (meningoarachnided hernia, hydrocephalus).
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PMID:[Analysis of epileptic pregnant women delivering between 1992-1998 in obstetric departments of the University Medical School in Lublin]. 1204 3