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)

A 1.5-year-old ferret examined because of seizures was found to have low serum calcium, high serum phosphorus, and extremely high serum parathyroid hormone concentrations. Common causes of these abnormalities, including nutritional secondary hyperparathyroidism, chronic renal secondary hyperparathyroidism, tumor lysis syndrome, and hypomagnesemia, were ruled out, and a tentative diagnosis of pseudohypoparathyroidism was made. Pseudohypoparathyroidism is a hereditary condition in people that, to our knowledge, has not been identified in ferrets previously and is caused by a lack of response to high serum parathyroid hormone concentrations, rather than a deficiency of this hormone. The ferret improved after treatment with dihydrotachysterol (a vitamin D analog) and calcium carbonate. It was still doing well after 3.5 years of continued treatment.
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PMID:Suspected pseudohypoparathyroidism in a domestic ferret. 1271 Jul 72

Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low concentration of PTH and relative hypercalciuria. Active vitamin D treatment often leads to nephrolithiasis and renal impairment in patients with ADH. However, differential diagnosis between ADH and idiopathic hypoparathyroidism is sometimes very difficult. Here, we report a mutation of CaSR and its functional property found in three generations of a Japanese family. The proband developed seizures at 7 days of age. His mother and elder sister were discovered to have hypoparathyroidism by family survey, but his father was normocalcemic. His grandfather developed heart failure and was found to have hypoparathyroidism. All affected members had been treated with active vitamin D3 and bilateral nephrolithiasis were detected in three of them. DNA sequencing revealed that all affected patients had a heterozygous mutation in CaSR gene that causes proline to leucine substitution at codon 221 (P221L). In vitro functional analysis of the mutant CaSR by measuring inositol 1,4,5-trisphosphate production in response to changes of extracellular Ca indicated that this mutation is an activating one and responsible for ADH in this family. Therefore, careful monitoring of urinary Ca excretion before and during treatment of PTH-deficient hypoparathyroidism is very important, and screening of CaSR mutation should be considered in patients with relative hypercalciuria or with a family history of hypocalcemia.
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PMID:A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. 1273 14

We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome.
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PMID:New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death. 1274 64

Menopausal women with epilepsy present several unique management challenges. They have an elevated risk for osteoporotic fracture because of the adverse effects of antiepileptic drugs (AEDs) on bone metabolism, combined with the chance of trauma during seizures and the subtle effects of AEDs on coordination that promote falling. A uniform effect of AEDs on vitamin D metabolism or bone turnover has not yet been revealed by clinical or basic studies, although the enzyme-inducing AEDs appear to decrease serum vitamin D levels. However, bone density is frequently decreased in patients with epilepsy. Clinicians must be familiar with the recommendations for calcium and vitamin D supplementation and recognize when to refer patients for bone density evaluations. Perimenopause is a transition during which women with epilepsy are at risk for increased seizure frequency, probably because of alterations in the estrogen:progesterone ratio over this period. Women with epilepsy who have had a catamenial seizure pattern during their reproductive years are at particular risk for an increase in seizure frequency during perimenopause but may experience a seizure reduction after becoming menopausal (cessation of menses for 1 year). These women appear to represent a subgroup of patients with epilepsy who have heightened sensitivity to endogenous reproductive hormone levels. The use of hormone replacement therapy may also increase seizure occurrence. Finally, the age at menopause may be reduced in women with poorly controlled seizures. This is probably related to an effect of seizures on hypothalamic function, although primary ovarian dysfunction may also be operative in this setting.
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PMID:Menopause and bone density issues for women with epilepsy. 1450 5

This study compares the patient characteristics of breastfed children in Baltimore, Maryland from 1990 to 2000 diagnosed with nutritional rickets at 12 months or younger to those older than 12 months to gain a better understanding of nutritional and environmental factors. All 30 of the patients were African American. Patients 12 months or younger (n=15) compared to those older than 12 months (n=15) were more likely to be born during the summer and to present with seizures and hypocalcemia. We recommend vitamin D supplementation of all breastfed infants at an early age and that supplementation continue throughout the duration of breastfeeding.
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PMID:A comparison of breastfed children with nutritional rickets who present during and after the first year of life. 1460 20

A 54-year-old man with a history of generalised tonic clonic seizures presented with complaints of daily unilateral stiffening of the limbs, preceded by paraesthesia. Two years before he had been treated with surgery and radiotherapy for a laryngo-pharyngeal carcinoma. Therefore, epilepsy due to intracerebral metastasis was suggested. However, neither CT nor MRI of the brain (with intravenous contrast) showed any abnormalities and the EEG showed no epileptiform discharges. Laboratory tests revealed elevated levels of thyroid-stimulating hormone in the blood, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. In combination with the medical history, tetany was found to be the correct diagnosis. In this patient, tetany was caused by hypoparathyroidism secondary to surgery and radiotherapy in the neck region. He was treated with levothyroxine, magnesium, calcium, and vitamin D and recovered in a few weeks' time. Hypothyroidism and hypoparathyroidism are common complications after treatment (surgery, radiotherapy and/or chemotherapy) for laryngo-pharyngeal carcinoma and other malignancies in the neck region.
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PMID:[Clinical reasoning and decision making in practice. A man with unilateral attacks of muscular rigidity following neck surgery for a malignant tumor]. 1461 2

The hallmark of acute hypocalcemia (ionized calcium <0.75 mmol/l) is tetany, which is characterized by neuromuscular irritability. The symptoms may be mild with circumoral numbness, paresthesias of hands and feet, and muscular cramps or severe with laryngospasm, focal or generalized tonic muscle cramps, or seizures. Myocardial dysfunction and prolongation of QT interval also may occur. Most often, acute hypocalcemia occurs after thyroid or parathyroid surgery. Rarer cases are intravascular binding of ionized calcium by phosphate, citrate, or drugs such as foscarnet or bisphosphonates. The most appropriate treatment is intravenous calcium, in the form of 100-200 mg of elemental calcium. Thereafter, the therapy depends on the underlying disease. In most cases vitamin D has to be added to calcium substitution. In cases of hypomagnesemia, magnesium and not calcium has to be substituted. It has not yet been proven in clinical trials whether substitution of magnesium and/or calcium influences the clinical outcome in patients with severe sepsis or pancreatitis who show both hypomagnesemia and hypocalcemia.
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PMID:[Tetany]. 1468 85

Non-Asian individuals with Down syndrome are much more likely to develop epileptic seizure disorders than individuals without Down syndrome. Examination of nutrient and metabolite levels in patients with these two seemingly disparate disorders reveals numerous similarities. Compared to individuals without these disorders, individuals with Down syndrome and individuals with seizures may have lower levels of vitamin A, vitamin B1, folate, vitamin B12, vitamin C, magnesium, manganese, selenium, zinc, carnitine, carnosine, choline, and possibly serine. Excesses of copper, cysteine, phenylalanine, and superoxide dismutase are also sometimes encountered in both disorders. In addition to common nutritional lower levels and excesses, disorders of metabolism involving vitamin B6, vitamin D, calcium, and tryptophan may play a common role. This paper hypothesizes that nutritional factors may account for the high joint occurrence of these conditions. Further examination of these data may provide insights into nutritional, metabolic and pharmacological treatments for both conditions.
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PMID:Down syndrome and epilepsy: a nutritional connection? 1472 2

Vitamin D-deficient rickets is uncommon but becoming more prevalent in the pediatric population likely related to increases in breast-feeding. It should be considered in many clinical situations. We present 3 cases of rickets presenting acutely to the emergency department. Their presentations included a fracture concerning for child abuse, tetany, and hypocalcemic seizures. In all cases, laboratory and radiographic evaluations were consistent with the diagnosis of nutritional rickets and their symptoms were related to rickets resolved with appropriate treatment. Although uncommon, vitamin D-deficient rickets should be considered in children with the above presentations.
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PMID:Variable presentations of rickets in children in the emergency department. 1475 13

Adults taking antiepileptic drugs (AEDs) have an augmented risk for osteopenia and osteoporosis because of abnormalities of bone metabolism associated with AEDs. The increased fracture rates that have been described among patients with epilepsy may be related both to seizures and to AEDs. The hepatic enzyme-inducing AEDs phenytoin, phenobarbital, and primidone have the clearest association with decreased bone mineral density (BMD). Carbamazepine, also an enzyme-inducing drug, and valproate, an enzyme inhibitor, may also adversely affect bone, but further study is needed. Little information is available about specific effects of newer AEDs on bone. Physicians are insufficiently aware of the association between AEDs and bone disease; a survey found that fewer than one-third of neurologists routinely evaluated AED-treated patients for bone disease, and fewer than 10% prescribed prophylactic calcium and vitamin D. Physicians should counsel patients taking AEDs about good bone health practices, and evaluation of bone health by measuring BMD is warranted after 5 years of AED treatment or before treatment in postmenopausal women.
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PMID:Epilepsy and bone health in adults. 1512 8


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