Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036572 (
seizures
)
80,221
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Biochemical evidence for hypoparathyroidism and roentgenographic evidence for
hyperparathyroidism
were present in a 7-year-old girl with
seizures
and tetany. She was hypocalcemic (4.7 mg/dl), hyperphosphatemic (11 mg/dl), and normomagnesemic, with elevated parathyroid hormone level (2,603 pg/dl and 3,693 pg/dl in immunoassays utilizing two different antisera). Somatic features of pseudohypoparathyroidism were absent. Increased serum alkaline phosphatase activity (335 IU/liter) with evidence of subperiosteal bone resorption suggested parathyroid hormone activity on bone. Intramuscular administration of parathyroid extract caused a rise in serum calcium level (9.6 mg/dl) and a fall in serum phosphorus level (7.9 mg/dl). The serum calcium, phosphorus, and alkaline phosphatase activity became normal during vitamin D therapy. Parathyroid hormone values and bone roentgenograms became normal. With serum calcium and phosphorus levels normal, ethylenediaminetetraacetic acid infusion was followed by an increase in plasma parathyroid hormone level but not in urinary cyclic adenosine monophosphate (AMP) or phosphaturia; in contrast, parathyroid extract induced cyclic AMP excretion and phosphaturia. These results suggest that endogenous parathyroid hormone in this patient affects bone resorption but not renal handling of phosphate. We infer that this represents a defective endogenous parathyroid hormone.
...
PMID:Hypo-hyperparathyroidism: evidence for a defective parathyroid hormone. 19 77
This multicentre study in 142 transfusion-dependent patients with chronic renal failure maintained by haemodialysis was performed to establish the appropriate dose regimen of rHuEpo and define its long-term safety profile. Only one of 132 patients eligible for efficacy analysis did not achieve the haemoglobin target of greater than or equal to 10 g/dl; this particular patient had folate deficiency and overt
hyperparathyroidism
. Regular blood transfusions were no longer necessary in any patients, however five patients needed blood transfusions only once, not due to rHuEpo failure: two for iron deficiency and three for intercurrent disease. In parallel with the haemoglobin increase a statistically significant improvement in quality of life scores was observed. The weekly dose required to maintain median haemoglobin between 10 and 10.5 g/dl for 1 year (n = 79) was 200-225 U/kg, applied as two or three i.v. injections. Mean serum ferritin decreased from 1900 to 1300 ng/ml and transferrin saturation from 60% to 30%; this feature was associated with statistically significant decrease of pre-study elevated liver enzymes. The treatment had no untoward effect on the outcome of renal transplantation (n = 24). Of the 56 patients who experienced hypertensive episodes during rHuEpo therapy, 47 had a history of hypertension and nine had not. The patient incidence during the first 3 months was 28.9% and fell markedly to 4% after 1 year. Only two hypertensive episodes could not be controlled and the patients dropped out.
Seizures
occurred in 11 patients, most of them during early treatment; annualised incidence during the first 3 months was 7.78 per year vs 2.07 per year for
seizures
beyond 3 months treatment. Clinical presentation, patients' history, haemoglobin pattern, BP recordings, brain scan, and EEG indicated that the pathophysiology is multifactorial, with emphasis on rate of haemoglobin increase. Therefore a smooth haemoglobin increase rate, induced by a conservative starting dose regimen (50 U/kg thrice weekly) is recommended, to allow the circulation to adapt to changes in haematocrit/viscosity and O2 delivery. The majority of the observed adverse reactions were related to rHuEpo's therapeutic effect, i.e. increase the haematocrit. The side-effects are therefore largely predictable and can be successfully managed.
...
PMID:Treatment of transfusion-dependent anaemia of chronic renal failure with recombinant human erythropoietin. A European multicentre study in 142 patients to define dose regimen and safety profile. 179 95
We report the case of a term neonate who developed hypocalcemic
seizures
due to transient hypoparathyroidism on the sixth postnatal day. His brother had had a similar episode after his birth four years earlier. The mother was free of symptoms and had normal calcium and phosphorus levels at the first evaluation. However, repetition of these determinations with a parathormone assay led to the diagnosis of
hyperparathyroidism
. A parathyroid adenoma was found and removed surgically. This case-report is the opportunity for reviewing presenting manifestations, diagnostic difficulties, potential complications of this infrequent maternofetal condition, and therapeutic aspects.
...
PMID:[Hypocalcemic seizures in two newborn siblings revealing hyperparathyroidism in the mother]. 225 40
Central nervous system disorders are not uncommon in patients with
hyperparathyroidism
and hypercalcaemia. Usually these consist of neuropsychiatric disturbances but acute encephalopathies and
seizures
may occur. A rare manifestation is cerebral infarction. A patient is presented with neuroradiological evidence of infarction caused by cerebral arterial spasm which appears related to hypercalcaemia due to hypervitaminosis D. Arterial spasm is suggested as a possible aetiological factor in focal neurological lesions associated with hypercalcaemia.
...
PMID:Hypercalcaemia associated with cerebral vasospasm causing infarction. 696 41
The course of a successful pregnancy in a kidney transplant recipient suffering from hypoparathyroidism is reported. The infant, born at 34 weeks' gestation, had normocalcemia and transient
hyperparathyroidism
. Maternal hypocalcemic attacks are liable to occur in the third trimester. Close observation with adequate supplements of calcium and vitamin D derivatives are required. Enhancement of fetal lung maturation and early delivery are advocated as effective treatment for the increasing frequency of hypocalcemic
seizures
.
...
PMID:Association of hypoparathyroidism and successful pregnancy in kidney transplant recipient. 704 37
Fahr's disease associates various degrees of neuropsychological impairment and calcium deposits in the basal ganglia. We report 3 cases. The first case was a 54-year-old man with hemichorea of one-year duration. Laboratory results demonstrated idiopathic hypoparathyroidism. In the second case, a 23-year-old man treated for epilepsia for 8 years was hospitalized for subintrant episodes and hemichorea. Dysmorphism and laboratory results led to the diagnosis of pseudo-hypothyroidism. The third case was a 62-year-old woman with generalized
seizures
of epilepsia and dementia of two-month duration. Physical examination revealed extra-pyramidal rigidity.
Hyperparathyroidism
due to an adenoma was confirmed histologically. In all three patients, correction of phosphocalcium levels led to clinical improvement, particularly with disappearance of the epileptic
seizures
and abnormal movements. Clinical expression of Fahr's syndrome varies greatly. Symptoms include psychiatric disorders, epileptic
seizures
, extra-pyramidal syndrome and various neurological conditions. Diagnosis requires CT brain scan which identifies calcium deposits in the basal ganglia. The main cause is hypoparathyroidism, whether primary or post-operative. Cases due to other causes of dysparathyroidism are rare. The pathophysiology of this condition remains unknown and results of treatment are often unsatisfactory. Since correcting the impaired calcium phosphorus metabolism often leads to considerable improvement, it is essential to systematically search for dysparathyroidism in patients presenting with neuropsychologic manifestations associated with calcifications of the basal ganglia.
...
PMID:[Fahr syndrome and dysparathyroidism. 3 cases]. 750 22
Neonatal hypocalcemia secondary to maternal hypercalcemia is relatively rare. We describe two infants with hypocalcemia and generalized
seizures
at 2 weeks and at 5 days of age, respectively. In the first case the infant was delivered of a mother who was subsequently diagnosed as having
hyperparathyroidism
. In the second case the infant was a member of a kindred with familial benign hypercalcemia. The evaluation of late-onset neonatal hypocalcemia should include an evaluation of maternal
hyperparathyroidism
and, in some cases, an evaluation for familial calcium disorders.
...
PMID:Symptomatic hypocalcemia and hypoparathyroidism in two infants of mothers with hyperparathyroidism and familial benign hypercalcemia. 897 97
We report three neonates with transient hypoparathyroidism with elevated parathyroid hormone (PTH) levels to clarify further the pathogenesis of late neonatal hypocalcemia and calcium homeostasis. Clinical signs were
seizures
starting at age of 10 and 11 days. The biochemical features were characterized by transient hypocalcemia and hyperphosphatemia due to a high transport maximum of the phosphate/glomerular filtration rate, despite high PTH levels. All had normal magnesium and calcidiol levels (at least 5 micrograms/l) for their age, and this precludes hypoparathyroidism due to low magnesium levels and
hyperparathyroidism
due to overt vitamin D deficiency. To diagnose pseudohypoparathyroidism type I, intravenous human PTH (1-34) infusions were performed; however, they showed brisk responses of plasma and/or urine cyclic AMP in response to the PTH infusion, but the phosphaturic response to the PTH was sluggish compared to the controls. All three showed an increase in serum alkaline phosphatase activity, suggesting PTH stimulation of osteoblasts. They were treated initially with calcium lactate or (1 alpha)-hydroxycalciol/calcitriol. Their hypoparathyroid condition, however, was transient; they maintained normal serum calcium and PTH levels without medication before the age of 6 months. The etiology, possibly intracellular signal transduction distal to cyclic AMP and/or distinct from adenylate cyclase in the kidney, is developmental and the condition was resolved completely within 6 months of age. We have termed this condition "transient pseudohypoparathyroidism of the neonate".
...
PMID:Transient pseudohypoparathyroidism of the neonate. 765 38
Hypercalcemic crisis due to
hyperparathyroidism
which is resistant to medical treatment, is a rare clinical condition which requires prompt surgical intervention. This 78 year-old woman was hospitalized because of hypercalcemic crisis. Conservative treatment including hemodialysis was not successful. A progressive mental disorder was noted. The maximum preoperative calcium value was 18.5 mg.dl-1, and an emergency surgery was scheduled. Anesthetic management for the hypercalcemic state includes (1) good hydration, (2) protection of the cardiac function, and (3) consideration of specific pathological features like renal failure. Balanced anesthesia with analgesics, vecuronium bromide and calcium blocker (diltiazem 0.5 microgram.kg-1.min-1) had been advocated to maintain the stable circulatory state. Postoperatively, this patient went into hypocalcemic
seizures
and treatment was necessary for a long period of time.
...
PMID:[An emergency operation for a patient in hypercalcemic crisis--a case report]. 801 71
Common thyroid and parathyroid disorders present with reversible neurologic signs and symptoms affecting the central and peripheral nervous system, musculature, and mental function. Patients with thyrotoxicosis may have myopathy, spasticity,
seizures
, and multiple psychiatric symptoms. A deficiency of thyroid hormone also causes muscle weakness and may be accompanied by reversible muscle hypertrophy or movement disorders. The chronic hypercalcemia that develops secondary to
hyperparathyroidism
produces many psychiatric and cognitive symptoms, as well as a reversible myopathy. Calcium deficiency leads to neuromuscular irritability, paresthesias, and tetany. Psychiatric disorders are also common in this disorder.
...
PMID:Neurologic complications of thyroid and parathyroid disease. 841 21
1
2
3
4
Next >>