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)

Hypocalcemia due to hypoparathyroidism (HPT) is a late complication of iron-overloaded patients with b-thalassaemia major (TM). The majority of patients have mild disease with parasthesias, while in the more severe form tetany, seizures or cardiac failure may occur. In the last 20 years we observed heart failure in 2 out of 38 (5.2%) TM patients (aged 18 and 22 years) with hypocalcemia secondary to HPT associated to iron overload. Calcium supplementation and vitamin D induced correction of hypocalcemia and resulted in an improvement of cardiac function. Calcium plays a key role in the maintenance and regulation of normal cardiac function. Extra-cellular calcium is indispensable for the contractile process since the sarcoplasmatic reticulum is unable to maintain a sufficient amount of calcium to trigger myocardial contraction. In conclusion, our observations stress the importance of a regular iron chelation therapy, adherence to treatment of endocrine complication and regular follow-up of TM patients with hypocalcemia.
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PMID:A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism. 1840 23

Exclusive breast-feeding is recommended up to 6 months of age with all its beneficial effects on child survival. Several studies have concluded that adequate intake of vitamin D cannot be met with human milk as the sole source of vitamin D. As breast-feeding rates increase, the incidence of vitamin D deficiency rickets is also expected to rise. One of the potential sources of vitamin D synthesis is in the skin from the ultraviolet rays of sunlight. Risk factors for developing vitamin D deficiency and rickets include low maternal levels of vitamin D, indoor confinement during the day, living at higher altitudes, living in urban areas with tall buildings, air pollution, darker skin pigmentation, use of sunscreen and covering much or all of the body when outside. In a study of 50 cases of hypocalcaemia reported from an urban tertiary care children's hospital in Chennai, 13 exclusively breast-fed infants presented with hypocalcaemia due to vitamin D deficiency and most of them with seizures. None of them had received vitamin D supplementation and all their mothers had biochemical evidence for vitamin D deficiency. This review discusses the rising incidence of vitamin D deficiency in infancy and the need to consider and implement methods to prevent the same by supplementation and increased exposure to sunlight without the hazards of ultraviolet rays on the skin. Further research to define the magnitude of vitamin D deficiency in exclusively breast-fed infants as a public health and paediatric problem and to recommend programmes to prevent the same are of utmost importance.
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PMID:Vitamin D deficiency in exclusively breast-fed infants. 1849 39

We describe a patient who presented with epileptic seizures unresponsive to anticonvulsive treatment. Laboratory investigations demonstrated epileptiform seizure activity in the brain but also revealed severe hypocalcemia, hyperphosphatemia, and elevated serum parathyroid hormone. In addition, the patient showed a reduced serum level of 25-[OH]-vitamin D. The diagnosis of pseudohypoparathyroidism type-Ib (PHP-Ib) was made based on these clinical findings and upon identification of a 3-kb deletion within the STX16 locus, a genetic defect frequently associated with autosomal dominant PHP-Ib. This mutation was also present in the patient's unaffected mother and her affected sister. Despite the molecular diagnosis of PHP-Ib, which is characterized by parathyroid hormone resistance in the absence of Albright's hereditary osteodystrophy (AHO), the patient had a round face, slightly short stature, and short fourth metacarpals, which were consistent with mild AHO. The patient and her affected sister, who lacked AHO-like features, showed reduced serum levels of uric acid and increased fractional excretion of uric acid, a finding that was reported only once previously for PHP-Ib. Unlike the previous report, the fractional uric acid excretion and serum uric acid levels returned to normal in our patient and her sister after 3 months of treatment period. These findings underscore several important points with respect to the pathogenesis and clinical presentation of PHP-Ib. Furthermore, the findings in the index case present interesting novel aspects, including a previously undescribed coexistence of the 3-kb STX16 deletion and AHO-like features and a clinical course complicated by concomitant 25-[OH]-vitamin D deficiency, which may have resulted, at least partly, from long-term use of antiepileptic drugs.
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PMID:Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. 1862 45

Antiepileptic drugs (AEDs) have traditionally been associated with osteoporosis. However, recent studies have only shown a very limited increase in the risk of fractures with the use of some but not all AEDs. Patients with epilepsy have an increased risk of fractures, but this increase is mainly linked to fractures sustained during seizures. Patients with epilepsy may also have a decreased bone mineral density but this decrease is far too small to explain the increase in fracture risk. The decrease in bone mineral density is seen mainly in children with complicating diseases and developmental disorders that lead to vitamin D deficiency. Much of the increase in fracture risk may be due to the underlying disorder and the severity of seizures rather than to the drugs used to treat epilepsy. The prevention of seizures seems to be of greater importance than any potential detrimental effects of the AEDs on the skeleton, provided that vitamin D status is kept at an optimal level. From a fracture point of view most AEDs seem to be relatively safe.
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PMID:Changes in bone turnover, bone mineral and fracture risk induced by drugs used to treat epilepsy. 1869 Sep 96

Bone disease is recognized as an important pathologic process to identify and treat in women. Women are at greater risk than men secondary to multiple factors including estrogen loss in menopause. The most important consequence of bone disease is fracture. Fracture rates are higher in persons with epilepsy treated with antiepileptic drugs (AEDs). Increased bone turnover secondary to AED exposure, higher rates of osteoporosis, adverse effects on bone quality, seizures, and impaired coordination may all contribute. There is a differential effect of AEDs on bone. Although results are mixed for some AEDs, phenytoin use is consistently associated with lower bone mineral density (BMD). As most evidence associates cytochrome P450 enzyme-inducing AEDs with abnormalities in bone, the induction of these enzymes has been proposed as the main mechanism to describe this effect. However, data suggest that this theory does not explain all findings. Many therapies are available for the treatment of bone disease, but there is limited study in persons with epilepsy. All patients should receive at least the recommended daily allowance of calcium and vitamin D and obtain vitamin D status screening. For prolonged AED exposure, BMD screening is available, particularly if the patient has other risk factors.
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PMID:Bone health in women with epilepsy: clinical features and potential mechanisms. 1892 90

Epilepsy is the most common serious neurological condition and sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Information concerning risk factors for SUDEP is conflicting, but high seizure frequency is a potential risk factor. Additionally, potential pathomechanisms for SUDEP are unknown, but it is very probable that cardiac arrhythmias during and between seizures or transmission of epileptic activity to the heart via the autonomic nervous system potentially play a role. In parallel, studies have shown a link between vitamin D dysfunction and epilepsy. Moreover, several evidences in the literature suggest an association between low vitamin D and seizures, indicating the possibility of anticonvulsant properties of this hormone. Quite interesting, a growing body of data suggests that low vitamin D levels may adversely affect cardiovascular health, directly associated with death from heart failure and sudden cardiac death. In view of the above findings, our research group focused in this review article that SUDEP, at least in some cases, could be related with low vitamin D levels.
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PMID:Benefits of sunlight: vitamin D deficiency might increase the risk of sudden unexpected death in epilepsy. 1966 11

Maternal vitamin D deficiency is a significant public health issue. This retrospective multicentre audit was undertaken to identify the scale of maternal vitamin D deficiency in London, using infant vitamin D deficiency as a surrogate marker. During January 2006 to June 2008, 74 infants presented with symptomatic vitamin D deficiency, a prevalence of 1.6 per 1000 deliveries in London. Of these, 49% were hypocalcaemic at presentation and 27% had hypocalcaemic seizures. A telephone survey in June 2008 showed that no London National Health Service antenatal units had departmental guidelines on vitamin D. This audit is presented to raise awareness of current recommendations and the sequelae of maternal vitamin D deficiency.
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PMID:Vitamin D in pregnancy-time for action: a paediatric audit. 1968 53

Vitamin D has historically been considered to play a role solely in bone and calcium metabolism. Human disease associations and basic physiological studies suggest that vitamin D deficiency is plausibly implicated in adverse health outcomes including mortality, malignancy, cardiovascular disease, immune functioning and glucose metabolism. There is considerable evidence that low maternal levels of 25 hydroxyvitamin D are associated with adverse outcomes for both mother and fetus in pregnancy as well as the neonate and child. Vitamin D deficiency during pregnancy has been linked with a number of maternal problems including infertility, preeclampsia, gestational diabetes and an increased rate of caesarean section. Likewise, for the child, there is an association with small size, impaired growth and skeletal problems in infancy, neonatal hypocalcaemia and seizures, and an increased risk of HIV transmission. Other childhood disease associations include type 1 diabetes and effects on immune tolerance. The optimal concentration of 25 hydroxyvitamin D is unknown and compounded by difficulties in defining the normal range. Whilst there is suggestive physiological evidence to support a causal role for many of the associations, whether vitamin D deficiency is a marker of poor health or the underlying aetiological problem is unclear. Randomised controlled trials of vitamin D supplementation with an appropriate assessment of a variety of health outcomes are required.
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PMID:Vitamin D and pregnancy: An old problem revisited. 2083 34

This study was done to evaluate if nursing mothers of infants with rickets have vitamin D deficiency, and to evaluate the relationship between maternal vitamin D levels with hypocalcemic seizures in infants with rickets. We selected a cohort of breastfed infants with rickets. Infants were included in this study if they were breastfed and presented with any of the following clinical criteria: delayed motor milestones or delayed teething, were found to have specific rachitic bony signs, or presented with hypocalcemic seizures. We checked serum calcium (Ca), phosphorus (P), alkaline phosphatase, 25 hydroxy vitamin D [25(OH)D] and parathyroid hormone (PTH) levels in both infants and their mothers. Out of 32 children who met the clinical criteria for rickets, 23 (72%) had vitamin D level less than 20 ng mL(-1). Twenty two mothers (69%) had vitamin D deficiency (25 hydroxy vitamin D < 20 ng mL(-1)). Mothers of nine infants who presented with hypocalcemic seizures had severe vitamin D deficiency, (p = 0.005). We conclude that maternal vitamin D deficiency is common in nursing mothers of infants diagnosed with rickets. Invariably mothers of infants presenting with hypocalcemic seizures have severe vitamin D deficiency. Hypocalcemic seizures in infants secondary to maternal vitamin D deficiency might be prevented by supplementation of vitamin D.
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PMID:Hypocalcemic seizures in breastfed infants with rickets secondary to severe maternal vitamin D deficiency. 2097 97

A case of steroid-induced osteoporosis-related multiple fractures and dislocations are described after a seizure is reported. Patient had two years history of steroid use with no supplement or antiresorptive therapy. There was a delay in the diagnosis which affected an otherwise good outcome in such situations. It is recommended that patients on steroid should be given calcium, vitamin D, and an antiresorptive. Furthermore, a meticulous clinical examination is required in patients who are on steroids and suffer epileptic seizures to rule out skeletal injury.
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PMID:Osteoporosis-related simultaneous four joints fractures and dislocation after a seizure: a case report. 2098 35


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