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)

The frequency of acne appears to be increased in boys and men of the XYY genotype. This report describes severe acne in a retarded man in whom chromosomal analysis with differential banding suggested duplication of the distal portion of the long arm of a number 13 chromosome, a partial trisomy 13. In addition to retardation and seizures, his malformations, which included narrowed temples, ear anomalies, hexadactyly, and hernias, were consistent with those reported previously in patients with partial trisomy for the distal segment of chromosome 13. This patient and one recently reported retarded boy with chronic acne and trisomy 8 mosaicism suggest that the association of acne and chromosomal abnormality may not be limited to Y chromosome excess.
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PMID:Acne in retarded boy with autosomal chromosomal abnormality. 13 37

Problems with anticonvulsants in women of child-bearing potential include potential adverse effects on appearance, contraception and pregnancy. These effects must be weighed against the overwhelming benefits of anticonvulsant treatment in the majority of women with epilepsy. Coarsened features, hirsutism and acne may occur in both men and women, particularly if they are exposed to phenytoin. Valproic acid may cause weight gain and hair loss, while carbamazepine treatment carries a significant risk of skin rashes. Anticonvulsants which are liver enzyme inducers (phenytoin, phenobarbital, primidone and carbamazepine) reduce the efficacy of the oral contraceptive pill. No 'pill failure' has been reported with valproic acid. There is a risk of increased seizure frequency in pregnancy irrespective of whether anticonvulsant treatment is taken. Individual seizures carry little risk to the mother or the fetus but status epilepticus has a significant maternal and fetal mortality. The risk of status epilepticus must be taken into account when deciding whether to stop anticonvulsant treatment before pregnancy. There is a 2 to 3 times increased malformation rate in the offspring of epileptic women on treatment. This is primarily due to the drug treatment, but epilepsy itself may also increase the malformation rate. Most malformations are mild and include facial clefts, congenital heart disease and skeletal abnormalities. Valproic acid, however, carries a 1% risk of causing neural tube defects: women receiving this drug who become pregnant should have an ultrasound and alpha-fetoprotein estimation at 16 to 18 weeks of pregnancy. If any abnormality is detected then amniocentesis should be carried out. Women with epilepsy should be counselled before conception and during pregnancy. Before achieving pregnancy a women should be on optimum treatment, preferably on one anticonvulsant. Consideration should be given to withdrawal of anticonvulsant drugs in any woman who has been seizure free for 2 years or who has only mild and infrequent seizures. Folate supplementation should be started prior to conception and should continue during pregnancy. There is a tendency for anticonvulsant drug concentrations to fall during pregnancy, and the dose may need to be increased if clinically indicated. Over 90% of epileptic women who become pregnant will have uneventful pregnancies and will produce healthy infants.
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PMID:Risk-benefit assessment of anticonvulsants in women of child-bearing potential. 202 55

Plasma phenytoin and phenobarbitone levels were estimated in 123 adult Ethiopian epileptics by gas-liquid chromatography. Thirty four (38.2%) of the patients on phenytoin, and 52 (52%) of those on phenobarbitone, had plasma levels in the conventional therapeutic ranges of 10-20 micrograms/ml and 10-30 micrograms/ml respectively. Of the 89 patients who were taking phenytoin either singly or combined with phenobarbitone, motor disturbances (ataxia and nystagmus) were seen in 31 (34.8%) and dysmorphic and idiosyncratic side effects including gum hypertrophy, hirsutism, acne and skin rash in 37 (41.6%). Subnormal serum calcium levels were noted in 15 (30.6%) and high alkaline phosphatase was found in 13 (26.5%). Phenobarbitone was found to be an effective anticonvulsant (78.1% seizure control rate), with adverse effects of sedation and intellectual depression. Seizure control was achieved in 77.1% of patients on a single drug as opposed to 55.6% on combination of phenytoin and phenobarbitone (p less than 0.05). The overall seizure control rate was 66%.
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PMID:Plasma level distribution, effect and toxicity of antiepileptic drugs among Ethiopian epileptics. 230 55

Thirty-six children with epilepsy resistant to conventional treatment were treated with bromides in addition to the current therapy. Six out of 19 cases with prevailingly or exclusively generalized tonic-clonic seizures became seizure-free and in 9 cases a reduction in seizure frequency of more than 50% was achieved. Freedom from seizures could not be obtained in 13 cases, who had frequent minor seizures in addition to generalized tonic-clonic seizures. In some, minor seizures were even activated. Tonic and focal seizures showed no response. Side effects were observed in one-third of the cases (acne, loss of appetite, loss of weight, fatigue) but in no case they did become intolerable. Fifty to 80 mg potassium bromide per kg body weight seems to be an effective daily dose range. There is a preferential indication of bromides for patients suffering from early onset epilepsy with generalized tonic-clonic seizures and/or alternating hemi-grand mal, for whom other treatment is ineffective. This disorder is characterized by a high familial incidence of epileptic seizures, onset between 6 months and 3 years of age, normal development until the onset of seizures, generalized tonic-clonic seizures and often alternating hemi-grand mal, seizure precipitation by fever, and occasional combination with or transition to myoclonic-astatic and/or myoclonic seizures. EEG is often normal or shows slight slowing in the initial phase; later it shows theta rhythms and generalized spikes and waves. Especially, if the onset is during the first year of life, the course of the epilepsy is often unfavourable.
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PMID:Bromides were effective in intractable epilepsy with generalized tonic-clonic seizures and onset in early childhood. 321 12

This article updates the literature on the treatment of epilepsy in women of reproductive age. Specific areas discussed include the effect of menstruation on seizure frequency, use of oral contraceptives (OCs), the effect of pregnancy on epilepsy, the effect of seizures on pregnancy and the fetus, the impact of antiepileptic drugs on the fetus, medical termination of pregnancy, breast feeding, and the risk of epilepsy in offspring. Exacerbtion of seizure activity is often seen in premenstrual and menstrual phases, and cyclic use of acetazolamide and/or progesterone (which exerts a protective effect against seizures) is recommended. OCs appear to have only a minor impact on epilepsy and the metabolism of antiepileptic drugs. On the other hand, these drugs can influence the metabolism and effectiveness of OCs. Concomitant use of OCs and antiepileptics can result in a higher incidence of acne and hirsutism, increased intermenstrual bleeding, and failure of contraception. The incidence of contraceptive failure is higher with low-dose estrogen OCs. In general, pregnancy appears to have an unfavorable effect on cerebral dysrrhythmia in epileptics. Possible causes for the increase in seizure frequency during pregnancy include psychological, hormonal, metabolic, and pharmacokinetic factors. The effect of epilepsy and antiepileptics on offspring is unclear. There appears to be an increased risk of spontaneous abortion and stillbirths in women taking antiepileptic drugs. In addition, a 3-fold increase in the incidence of congenital malformations has been noted in these women. The risks of birth defects are greater when there is a family history of birth defects, when the father is also epileptic, when a previous pregnancy resulted in a malformed child, when seizures during pregnancy are poorly controlled, and when multipel antiepileptic drugs are used in high doses. Although offspring may inherit the epileptic trait, they do not always manifest the disease.
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PMID:Treatment of epilepsy in women of childbearing age. 404 6

US teenagers have had access to the injectable contraceptive depot medroxyprogesterone acetate (DMPA; Depo-Provera) since the US Food and Drug Administration approved it in 1992. DMPA suppresses follicle stimulating hormone and luteinizing hormone (LH) levels, which in turn prevents the LH surge and thus inhibits ovulation. It also causes a thick cervical mucus (reducing sperm penetration). Since DMPA also changes tubal mobility and creates shallow and atrophic endometrium, implantation is prevented. DMPA must be administered every 3 months to be effective. Its first-year failure rate is 0.3%, which is lower than that of oral contraceptives (3%). Advantages of DMPA are that it: allows for privacy; improves compliance (since action is required every 3 months rather than every day); has no estrogen-related complications (e.g., thrombophlebitis); is effective; is safe for breast feeding teenagers; reduces seizure frequency in teenagers with epilepsy; has a favorable effect on sickle cell disease or coagulopathy; reduces menstrual flow, thus preventing iron-deficiency anemia; reduces menstrual pain and pre-menstrual symptoms; and decreases risk of pelvic inflammatory disease. The leading disadvantages are menstrual irregularities and spotting. Some other possible disadvantages include weight gain (most common reason for discontinuation), delayed return of fertility, headaches, acne, and nervousness. Health providers must perform a complete history of teenagers requesting DMPA. They should determine the presence or absence of absolute and relative contraindications to DMPA. Absolute contraindications are known or suspected pregnancy, undiagnosed or abnormal vaginal bleeding, known or suspected history of breast cancer, acute liver disease or jaundice, thromboembolism, and sensitivity to DMPA. DMPA is administered intramuscularly at a concentration of 150 mg/ml. Health providers need to use a frank, nonjudgmental, empathic, and unhurried approach to facilitate a trusting relationship and rapport with teenagers. Advanced counseling on the pros and cons of DMPA, how DMPA works, and DMPA's inability to protect against sexually transmitted diseases is essential.
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PMID:Use of depo-provera in teens. 892 Mar 51

Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.
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PMID:W syndrome: report of three cases and review. 1059 87

Despite limited understanding of therapeutic aetiopathogenesis of ulcerative colitis and Crohn's disease, there is a strong evidence base for the efficacy of pharmacological and biological therapies. It is equally important to recognise toxicity of the medical armamentarium for inflammatory bowel disease (IBD). Sulfasalazine consists of sulfapyridine linked to 5-aminosalicylic acid (5-ASA) via an azo bond. Common adverse effects related to sulfapyridine 'intolerance' include headache, nausea, anorexia, and malaise. Other allergic or toxic adverse effects include fever, rash, haemolytic anaemia, hepatitis, pancreatitis, paradoxical worsening of colitis, and reversible sperm abnormalities. The newer 5-ASA agents were developed to deliver the active ingredient of sulfasalazine while minimising adverse effects. Adverse effects are infrequent but may include nausea, dyspepsia and headache. Olsalazine may cause a secretory diarrhoea. Uncommon hypersensitivity reactions, including worsening of colitis, pancreatitis, pericarditis and nephritis, have also been reported. Corticosteroids are commonly prescribed for treatment of moderate to severe IBD. Despite short term efficacy, corticosteroids have numerous adverse effects that preclude their long term use. Adverse effects include acne, fluid retention, fat redistribution, hypertension, hyperglycaemia, psycho-neurological disturbances, cataracts, adrenal suppression, growth failure in children, and osteonecrosis. Newer corticosteroid preparations offer potential for targeted therapy and less corticosteroid-related adverse effects. Azathioprine and mercaptopurine are associated with pancreatitis in 3 to 15% of patients that resolves upon drug cessation. Bone marrow suppression is dose related and may be delayed. The adverse effects of methotrexate include nausea, leucopenia and, rarely, hypersensitivity pneumonia or hepatic fibrosis. Common adverse effects of cyclosporin include nephrotoxicity, hypertension, headache, gingival hyperplasia, hyperkalaemia, paresthesias, and tremors. These adverse effects usually abate with dose reduction or cessation of therapy. Seizures and opportunistic infections have also been reported. Antibacterials are commonly employed as primary therapy for Crohn's disease. Common adverse effects of metronidazole include nausea and a metallic taste. Peripheral neuropathy can occur with prolonged administration. Ciprofloxacin and other antibacterials may be beneficial in those intolerant to metronidazole. Newer immunosuppressive agents previously reserved for transplant recipients are under investigation for IBD. Tacrolimus has an adverse effect profile similar to cyclosporin, and may cause renal insufficiency. Mycophenolate mofetil, a purine synthesis inhibitor, has primarily gastrointestinal adverse effects. Biological agents targeting specific sites in the immunoinflammatory cascade are now available to treat IBD. Infliximab, a chimeric antibody targeting tumour necrosis factor-or has been well tolerated in clinical trials and early postmarketing experience. Additional trials are needed to assess long term adverse effects.
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PMID:Comparative tolerability of treatments for inflammatory bowel disease. 1108 48

Epilepsy in women raises special reproductive and general health concerns. Seizure frequency and severity may change at puberty, over the menstrual cycle, with pregnancy, and at menopause. Estrogen is known to increase the risk of seizures, while progesterone has an inhibitory effect. Many antiepileptic drugs induce liver enzymes and decrease oral contraceptive efficacy. Women with epilepsy also have lower fertility rates and are more likely to have anovulatory menstrual cycles, polycystic ovaries, and sexual dysfunction. Irregular menstrual cycles, hirsutism, acne, and obesity should prompt an evaluation for reproductive dysfunction. Children who are born to women with epilepsy are at greater risk of birth defects, in part related to maternal use of antiepileptic drugs. This risk is reduced by using a single antiepileptic drug at the lowest effective dose and by providing preconceptional folic acid supplementation. Breastfeeding is generally thought to be safe for women using antiepileptic medications.
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PMID:Epilepsy in women. 1240 23

Epilepsy is a common neurologic disorder affecting women during the reproductive years. Seizures and some antiepileptic drugs (AEDs) can compromise reproductive health, and some AEDs can adversely affect carbohydrate and bone metabolism. Women with epilepsy have lower birth rates and more frequent anovulatory menstrual cycles. This appears to be related to seizure- and AED-associated reproductive endocrine disturbances. Carbamazepine (CBZ), phenytoin (PHT), and phenobarbital (PB) induce hepatic cytochrome P450 enzymes and lower endogenous estrogens, adrenal and ovarian androgens, and contraceptive steroids. Valproate (VPA) inhibits steroid hormone metabolism, elevates androgens, and predisposes to phenotypic signs of hyperandrogenism-hirsutism, obesity, acne, and frequent anovulatory cycles. VPA is associated with weight gain, probably by altering insulin metabolism. CBZ, PHT, and VPA, but not lamotrigine (LTG), are associated with lower levels of calcium. PHT, but not VPA or LTG, appears to accelerate bone turnover. AED effects on bone mineral metabolism may explain the elevated risk of fracture described in women with epilepsy. Prospective pregnancy registries are beginning to provide information about AED-associated teratogenesis. The North American Antiepileptic Drug Pregnancy Registry reports a 12% rate of major malformations after first trimester exposure to PB and an 8.6% rate after first trimester exposure to VPA. A prospective LTG-specific registry reports a 1.8% chance of major malformations after the first trimester. The registries will continue to release information as data become significant. In the meantime, practitioners can be alert to signs and symptoms of reproductive or metabolic health disturbances and participate in pregnancy registry efforts.
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PMID:Reproductive and metabolic disorders in women with epilepsy. 1282 65


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