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 risk for skeletal fractures in patients with epilepsy is two to six times greater than in the general population. Fractures may be caused by seizures themselves or by falls, with or without seizures. Side effects of antiepileptic drugs (AEDs), such as ataxia, and coexisting neurological deficits contribute to the risk for falls. The effects of older AEDs on bone mineral density probably increase the risk for fractures associated with seizures and falls. Preventive measures include optimal control of seizures and supplementation with calcium and vitamin D. Whether newer AEDs prove to be without adverse effects on bone mineral metabolism remains to be determined.
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PMID:Fractures, epilepsy, and antiepileptic drugs. 1512 10

This study aimed to investigate the relationship between 25-hydroxyvitamin D [25(OH)D)] and parathyroid hormone (PTH) levels in adolescent females residing in a northern climate. Concern regarding vitamin D status in this population is due to limited sunlight exposure in northern latitudes, decreased outdoor recreational activities, as well as decreased conversion in black girls from increased skin pigmentation. In this cross-sectional analysis, serum samples were assayed for 25(OH)D using competitive protein binding (CPB) assay and PTH with immuno-radiometric (RIA) procedures. Four hundred postmenarcheal females (12-18 years) residing in northeastern Ohio were recruited. Subjects were excluded if they had a history of bone, kidney, or liver disease, or used medications that affect bone. The primary goal was to determine serum 25(OH)D concentrations in relation to circulating PTH levels in a population of adolescent girls. The Spearman correlation test was used to compare PTH and 25(OH)D. Fit multiple split models were run to determine change in slope of the regression line when 25(OH)D and PTH were plotted. Analysis of variance was determined using modeled means with differences by race and season in the final model. Unadjusted mean serum 25(OH)D and PTH levels were 55.0+/-30.4 nmol/l and 39.4+/-20.6 ng/l, respectively. Blacks had lower 25(OH)D and higher PTH compared with non-blacks (P<0.0001), especially during the winter months. Decreasing 25(OH)D was inversely correlated with PTH (r=-0.314) (P<0.0001), and at concentrations of 25(OH)D < or =90 nmol/l, an increase in PTH was observed. Adolescents are at risk for decreased serum 25(OH)D concentrations, especially black girls. We found that the widely used cutoff for vitamin D deficiency is associated with increasing PTH levels and is below the inflection point for a change in the slope of the regression line. Our results support the need for further research to establish optimal vitamin D status in adolescent girls.
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PMID:Low levels of 25-hydroxy vitamin D are associated with elevated parathyroid hormone in healthy adolescent females. 1517 48

Four noninstitutionalized patients, 4 months - 51 years old, presented out of 421 patients with epilepsy seen within a period of 2 years with serious symptoms of vitamin D deficiency secondary to chronic antiepileptic drug therapy. Presenting symptoms included exacerbation of seizure activity, status epilepticus, carpopedal spasms, fractures, osteomalacia, and rickets. All had low serum calcium and low vitamin D levels. Our experience supports the practice of screening patients on chronic antiepileptic drug therapy for vitamin D abnormalities.
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PMID:Symptomatic antiepileptic drug associated vitamin D deficiency in noninstitutionalized patients: an under-diagnosed disorder. 1529 60

The clinical care of women with epilepsy entails special considerations over the life span. Endogenous depression is more prevalent in persons with epilepsy than in the general population and may be unrecognized. Seizure frequency may be influenced by hormonal fluctuations, as reflected by catamenial patterns in up to 25% of women and by changes at menopause. Fertility is lower in women with epilepsy. These women should be evaluated for anovulatory cycles and particularly for polycystic ovary syndrome, with its attendant health risks. It is important to provide folate supplementation during the childbearing years and to evaluate bone health throughout life, providing calcium and vitamin D supplementation when indicated. Particular consideration is indicated before conception and during pregnancy to minimize both potential teratogenicity secondary to antiepileptic drugs (AEDs) and the risks that seizures pose to fetus and mother. At delivery, vitamin K is indicated. Some infants may need to be monitored for AED withdrawal, while others may require a perinatal team if malformations are identified in utero. Breast-feeding is possible, with sedation rarely being a problem. Recognition, evaluation, and management of these issues will minimize the negative impact of epilepsy and improve lifelong quality of life.
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PMID:Recommendations for the care of women with epilepsy. 1537

Mutations in the calcium-sensing receptor gene (CaSR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcaemia (FBHH), neonatal severe hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemia with hypercalciuria (ADHH). FBHH may have a population prevalence as high as one in 16 000, and ADHH one in 70 000. NSHPT is very rare. The FBHH condition is usually asymptomatic. Parathyroidectomy does not result in normal serum calcium, and no active treatment is indicated. To differentiate FBHH from primary hyperparathyroidism (PHPT), a guideline which includes measurement of serum calcium, intact parathyroid hormone (PTH), magnesium and fasting urinary calcium excretion is proposed. Screening of family members for hypercalcaemia, and occasionally a search for mutations in the CaSR gene, may be required. The NSHPT condition may manifest with hypercalcaemia, (usually) very elevated serum PTH concentration, subperiosteal erosions and fractures. Milder cases may be managed medically, but respiratory failure, extreme hypercalcaemia and failure to thrive are indications for early parathyroidectomy. The ADHH condition may result in asymptomatic hypocalcaemia, but some affected family members have minor symptoms, and a minority experience seizures in infancy which can recur into adulthood. A significant proportion of cases previously reported as idiopathic hypoparathyroidism (IHP) may in fact be due to mutations in the CaSR gene. In a moderately hypocalcaemic patient with no other clearly discernible cause, an elevated urine calcium:creatinine ratio is suggestive of ADHH, as is the presence of a first-degree relative with hypocalcaemia. If treatment with vitamin D analogues is undertaken, serum and urine calcium should be monitored, advice which applies equally to ADHH and IHP.
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PMID:Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 1558 33

The aim of this cross sectional study was to evaluate bone mineral density (BMD) and serum levels of 25-hydroxy vitamin D (25OHD) in a group of patients taking antiepileptic drugs (AED) for a seizure disorder. Between May-2001 and January-2003, we evaluated 58 patients (40 women/18 men), 34.4+/-6 years old living in Curitiba or in its metropolitan area, on antiepileptic therapy for 2 to 38 years (10 on monotherapy /48 on multiple drugs regime). The group was matched by age, gender, and bone mass index to 29 healthy subjects (20 women/ 9 men); 34.2+/-5.9 years old. Medical history and physical exam were performed on all subjects with particular information sought about fractures and risks factors for osteoporosis. Blood samples were collected for total serum calcium, albumin, phosphorus, creatinine, total alkaline phosphatase, and liver function tests. BMD of the lumbar spine, femur and forearm was determined by dual energy X-ray absorptiometry (DXA, Hologic QDR 1000). Between February and April-2003, other blood samples were collected to measure 25OHD, intact paratohormone (PTH) and calcium. Unemployment and smoking history were more frequent among patients than among controls (p<0.05). Fifteen patients had a fracture history, all of which occurred during a seizure. The BMD of the lumbar spine (0.975+/-0. 13 g/cm2 vs. 1.058+/-0.1 g/cm2; p<0.03) and of the total femur (0.930+/-0.1 g/cm2 vs. 0.988+/-0.12 g/cm2; p<0.02) was lower in patients than in controls. In 63.5% of patients and in 24.1 % of controls a T-score < -1.0 in at least one site was seen. The AED users had higher total alkaline phosphatase and lower 25OHD (p<0.02). No correlations between BMD and 25OHD were found. The use of phenytoin was correlated with a greater incidence of fractures (RR: 2.38). We conclude that patients on chronic use of AED have alterations in bone metabolism characterized in this study by lower BMD of the lumbar spine and total femur and lower serum concentrations of 25OHD.
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PMID:Bone mineral density and serum levels of 25 OH vitamin D in chronic users of antiepileptic drugs. 1560 49

We analyzed the characteristics of young infants diagnosed with vitamin D deficiency in early infancy at 2 medical centers in Turkey. In this retrospective, cross-sectional study, the clinical, biochemical, and radiographic findings of infants who were diagnosed with vitamin D deficiency at <3 mo of age between May 2001 and May 2003 were reviewed. A total of 42 infants (27 boys and 15 girls) were diagnosed with vitamin D deficiency in the first 3 mo of life during this 2-y period. The age of infants at diagnosis was 60 +/- 19 d (range 32-112 d). The majority (78.7%) presented with seizures. No skeletal deformities were detected clinically, and radiological findings were subtle. All infants had low serum calcium levels but serum phosphorous levels varied. Eight infants (19.0%) had low, 19 (45.3%) had normal, and 15 (35.7%) had elevated serum phosphorous levels. Serum 25-hydroxyvitamin D levels in those measured (29 infants and 15 mothers) were <37.5 nmol/L. Most infants (83%) were exclusively breast-fed without supplemental vitamin D, and none of the mothers were supplemented with vitamin D during pregnancy. All mothers had limited sunlight exposure and 33 of 42 mothers (78.6%) wore concealing clothing. The majority of young infants diagnosed with vitamin D deficiency present with seizures, have low dietary vitamin D intake, and mothers with poor vitamin D reserves. Evaluation of vitamin D status should be included into the workup of hypocalcemia in early infancy. Prevention of deficiency by supplementing pregnant women and infants who are exclusively breast-fed is essential.
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PMID:Vitamin D deficiency in early infancy. 1567 Dec 26

Although cases of Vitamin D-deficient Rickets have declined since the Industrial Revolution, certain populations remain at risk. Risk factors for developing vitamin D-deficient Rickets include breast-feeding without formula or vitamin supplementation, very dark skin and inadequate exposure to sunlight. We describe a case of Rickets in a breastfed infant with dark skin who presented with hypocalcemic seizures. The pathophysiology of Rickets is briefly described along with the emergency management of infants presenting with hypocalcemic seizure.
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PMID:Pediatric hypocalcemic seizures: a case of rickets. 1570 11

The authors describe a 9-year-old girl with precursor-B acute lymphoblastic leukemia (ALL) who presented with dehydration and severe hypercalcemia. She had received oral vitamin D and calcium supplementation for 4 days, the last dose 48 hours prior to admission, and required pediatric intensive care unit (PICU) hospitalization for management of the hypercalcemia and safe initiation of induction chemotherapy. Her clinical course was complicated by pancreatitis, disseminated intravascular coagulation, pleural effusion, and focal seizures. Although the exact mechanism of hypercalcemia was not elucidated, it was likely related to the underlying ALL, without dismissing the prior vitamin D and calcium supplementation as a possible contributing factor. The hypercalcemia resolved with specific antileukemic therapy along with supportive care and administration of calcitonin. Hypercalcemia is an uncommon metabolic abnormality in children with ALL, but it can be life-threatening. Children with ALL should be referred to tertiary-care institutions with PICU and subspecialty support because serious metabolic and other complications can occur before or after the administration of chemotherapy.
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PMID:Life-threatening hypercalcemia complicated by pancreatitis in a child with acute lymphoblastic leukemia. 1589 68

Antiepileptic drug (AED) treatment is associated with multiple short- and long-term side effects. Effects on endocrine function, including weight change, reproductive function, thyroid function, and bone health are examples of these side effects. Some AEDs affect weight, resulting in weight gain or loss. Levetiracetam and lamotrigine are weight-neutral agents, whereas valproate is associated with weight gain. Reproductive dysfunction is reported in women and men with epilepsy treated with AEDs. In women, the most common symptoms are hyperandrogenism, menstrual disorders with ovulatory failure, polycystic ovary-appearing ovaries or polycystic ovary syndrome, and hyperinsulinemia. These symptoms may be secondary to epilepsy or to AED treatment, particularly with valproate. In men, effects on sperm quality and motility, delayed sexual development, and small testicular size have been described in association with AED treatment. Carbamazepine reduces testosterone levels, whereas valproate increases androgen levels. Oxcarbazepine is not associated with changes in testosterone levels. Treatment with all of these agents can result in changes in sperm, including concentration, morphology, and motility. Enzyme-inducing AEDs are known to result in decreased thyroid hormones. Recent studies found reduced serum thyroid hormone concentrations in men and young girls treated with carbamazepine and oxcarbazepine. However, all patients were clinically euthyroid, and these changes were reversible after AED withdrawal. Persons with epilepsy treated with AEDs are at increased risk for fracture. Not only is this increased because of seizure activity, but also because of treatment with AEDs. AED treatment results in decreased bone mineral density, the most sensitive predictor of fracture and changes in biochemical indices of bone metabolism, including calcium, vitamin D, and markers of bone formation and resorption. Identifying each of these endocrine abnormalities is important because it may be necessary and beneficial to change AED treatment. In addition, multiple therapies exist for the treatment of polycystic ovary syndrome, infertility, and decreased bone mineral density.
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PMID:Effects of Treatment on Endocrine Function in Patients with Epilepsy. 1596 90


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