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)

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

A Japanese girl is reported who had the typical clinical features of Aicardi syndrome associated with embryonal carcinoma. She developed infantile spasms at approximately 4 weeks of age; her seizures were intractable in spite of treatment with numerous antiepileptic drugs and ACTH. At 22 months of age, her left cheek gradually became swollen. Laboratory findings were normal except for a marked increase in serum alpha-fetoprotein. A transoral biopsy of the tumor revealed an embryonal carcinoma. This patient is the first reported with Aicardi syndrome and embryonal carcinoma. The relationship between congenital malformations and neoplasms is discussed.
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PMID:Aicardi syndrome associated with an embryonal carcinoma. 265 39

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.
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PMID:Interstitial deletion of chromosome 2 (p23p25). 347 99

We describe the antenatal diagnosis and intrauterine treatment of hydrocephalus induced (corticosteroid teratism) in fetal rhesus monkeys. Diagnostic techniques included (1) maternal serum alpha-fetoprotein (AFP) measurement, (2) ultrasonography of the fetal ventricular system, (3) roentgenography, and (4) fetoscopy. After measuring excessive intracranial CSF pressures in hydrocephalic fetuses, an indwelling prosthetic valve was devised--the hydrocephalic antenatal vent for intrauterine treatment (HAVIT). The HAVIT was surgically implanted in the fetal skull so that when CSF pressures exceeded 60 mm H2O, the ports opened to vent CSF from the fetal ventricular system into the amniotic fluid. Whereas unaided hydrocephalic neonates seldom survived more than ten to 14 days, manifesting progressive muscular weakness and frequent seizures, fetal monkeys receiving the HAVIT demonstrated markedly superior postnatal development of motor skills and weight gain. Although additional laboratory studies are indicated, ultimately, clinical investigations combining early diagnosis and in utero insertion of the HAVIT or similar prosthesis may significantly enhance the prognosis of children in whom severe antenatal hydrocephalus develops.
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PMID:In utero diagnosis and treatment of non-human primate fetal skeletal anomalies. I. Hydrocephalus. 616 43

A 34-year-old woman with an abnormal maternal serum screening result and a Down syndrome risk of 1:60 calculated from a maternal serum alpha-fetoprotein (AFP) value of 1.4 multiples of the median (MoM) and a human chorionic gonadotrophin (hCG) level of 4.32 MoM at 18 weeks' gestation was found to have isolated fetal ascites at 23 weeks' gestation. Spontaneous resolution occurred 10 weeks after the initial presentation. After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes. Our patient illustrates that CMTC in utero may be associated with a markedly elevated maternal serum hCG level as well as transitory isolated fetal ascites. However, such associations can be coincidental and further collaborative studies and cases will be necessary before it can be determined that a disproportionately elevated hCG level and transitory isolated fetal ascites are predictive of CMTC in utero.
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PMID:Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. 906 48

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.
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PMID:Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor. 967 69

We performed molecular analysis of a germline interstitial deletion of chromosome 4 [del(4)(q21.22q23)], which had been observed in a male infant manifesting early-onset hepatoblastoma (HBL). The chromosomal anomaly in this child was associated with a unique congenital syndrome including HBL, atrial septal defect, ventricular septal defect, patent ductus arteriosus, mental retardation, and seizures. However, the patient did not exhibit a megalencephaly typical of 4q21-22 deletions. His HBL was associated with an increasing serum alpha-fetoprotein level and rapid growth. To define the chromosomal deletion at the molecular level in this child, we analyzed his lymphoblasts with fluorescence in situ hybridization, using as probes a panel of BAC/PAC genomic clones containing STS markers covering the 4q12-27 region. The analysis revealed that the affected chromosome had an 8-cM deletion within 4q21-q22, flanked by markers D4S2964 and D4S2966. This microdeletion overlaps with the commonly deleted region at 4q21-q22 that was recently defined in adult hepatocellular carcinomas.
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PMID:An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers. 1156 28

This report describes a new etiology of pediatric syncope. Epilepsy, brain anomalies, infection, electrolyte abnormalities, and trauma are commonly identified etiologies of seizures in the pediatric population. We report here a child with third-degree heart block and right ventricular outflow tract obstruction related to an intracardiac tumor presenting with syncope and seizure-like activity. Echocardiography revealed a large (3 x 8-cm) intracardiac mass filling the right atrium, extending across the tricuspid valve into the right ventricle and crossing the atrial septum into the left atrium, extending into the left ventricular outflow tract. She underwent emergent cardiopulmonary bypass with removal of the majority of the tumor mass, clearing both the left and right ventricular outflow tracts of obstruction and repairing the tricuspid valve. Postoperative cardiac conduction remained blocked and required permanent pacing. The initial serum alpha-fetoprotein level was grossly elevated, and the tumor showed characteristic histopathologic features of a yolk sac tumor. Four years after the completion of her chemotherapy, she remains clinically well, with no evidence of recurrent tumor by echocardiography or radiographic studies, and her alpha-fetoprotein remains in the normal range. The clinical manifestations of tumor infiltration of the heart with complete heart block resulting in loss of consciousness with tonic-clonic movements are detailed. Although rare, cardiac syncope has multiple known causes and should be suspected in any patient with sudden loss of consciousness and pallor. In the pediatric population, cardiac rhythm disturbances are typically the result, rather than the cause, of acute cardiac emergencies. Pediatricians should be aware of depressed cardiac output and dysrhythmias as etiologies of new-onset syncope. Evaluation should include a cardiac assessment with electrocardiogram to exclude a life-threatening arrhythmia as a potential cause.
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PMID:Intracardiac yolk sac tumor and dysrhythmia as an etiology of pediatric syncope. 1506 Feb 71

Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Early postnatal diagnosis may prevent hypoglycemic seizures, Addisonian crises, and death. There are also occasional reports of prenatal diagnosis of IAD by findings on the maternal triple-marker screen (TMST), a combined serum analyte test that measures levels of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the detection of Down syndrome and open neural-tube defects. An isolated low estriol level is usually correlated with compromised uteroplacental perfusion and frequently associated with fetal death. A low estriol level in the context of normal fetal sonography and growth, after exclusion of placental sulfatase deficiency and Smith-Lemli-Opitz syndrome, should raise the suspicion of deficient fetal steroidogenesis, which leads to decreased production of adrenal dehydroepiandrosterone sulfate. We describe 2 brothers with adrenal insufficiency resulting from IAD. The parents are first cousins whose first son is healthy. During the pregnancy of the second son, who died at the age of 7 weeks as a result of presumed cardiomyopathy, a low estriol level on the TMST was ignored because of a normal fetal ultrasound. In the third pregnancy, a low level was found again, and the mother was referred to our tertiary center. Ultrasonography revealed no abnormalities, and karyotype was normal. Normal levels of steroid sulfatase activity and 7-dehydrocholesterol ruled out X-linked ichthyosis and Smith-Lemli-Opitz syndrome, respectively. Postnatally, basal and stimulated cortisol and ACTH levels were low. Other pituitary functions were normal, suggesting the diagnosis of IAD. The patient was treated with a stress dose of hydrocortisone on day 2 of life, which was tapered to a maintenance dose. At the time of this writing, he was 7 months old, with normal growth and development. Recently, loss-of-function mutations in the human TPIT gene were detected in autosomal recessive IAD. TPIT is a cell-restricted T-box transcription factor that is important for the terminal differentiation of pituitary corticotrophs. Therefore, we performed molecular analysis of the TPIT gene, which revealed a new mutation (IVS4+1G>A) that affects the first nucleotide of the splice site at the 5' end of the fourth intron. This stop codon probably leads to loss of TPIT function by nonsense-mediated mRNA decay, as it does for other TPIT nonsense mutations. We recommend that pregnant women with an isolated low estriol level of unexplained etiology be referred for additional evaluation by a multidisciplinary team that includes a geneticist and pediatric endocrinologist. Prompt ACTH testing in the first postnatal days will allow for early diagnosis. The immediate institution of glucocorticoid therapy, with proper instructions for stress management, can prevent unnecessary neonatal death secondary to an easily treatable disease.
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PMID:Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 1639 Sep 21

Women with epilepsy should not be discouraged from becoming pregnant as the likelihood of having a healthy baby is very high. However, in such women, early and individualised counselling about pregnancy and contraception is essential. Ideally, pregnancies should be planned, folic acid (5 mg/day) given and antiepileptic drug (AED) treatment optimised well before conception to ensure that the lowest dosage that controls seizures is administered. When initiating AEDs in a woman of childbearing age, the most appropriate drug for the seizure type and syndrome should be chosen, although it is preferable to avoid valproate, because of a possible elevated risk of fetal malformations, when equi-effective agents are available for a given syndrome. In women who become pregnant while taking AEDs, fetal monitoring should include high-resolution ultrasonography before week 20 and measurement of serum alpha-fetoprotein levels. Amniocentesis is not routinely indicated. The measurement of blood concentrations of AEDs can be useful to ensure that the lowest possible maintenance dosage is being used, especially for those drugs whose pharmacokinetics are likely to change during pregnancy. Breastfeeding should be encouraged whatever the treatment administered.
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PMID:Management of epilepsy in women of childbearing age: practical recommendations. 1669 78


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