Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical aspect of porphyria has been investigated, and it is well known that porphyrinogens such as estrogens and alcohol or other inducers of P450 isoenzymes exacerbate the porphyric state. However, there can be a delay in diagnosing porphyria and a difficulty in selecting safe medicine for it even today. A 21-year-old woman developed epilepsy, disturbance of mental state, and spastic tetraparesis during the convalescent period after acute viral encephalitis. She was diagnosed with porphyria after the fifth hospitalization. In the course of modifying her anticonvulsant regimen, the authors examined the 6beta-hydroxycortisol/cortisol ratio (6beta-OHF/F) in her urine, which can be the index of hepatic CYP3A4 activity, with electrospray ionization/mass spectrometry/mass spectrometry (ESI/MS/MS). Generalized and partial complex seizures, other neurological signs and symptoms, and laboratory data were improved after modification of her anticonvulsant regimen. This is the first report of evaluating the urinary 6beta-hydroxycortisol/cortisol ratio in a case of porphyria.
 ...
PMID:Microsomal enzyme induction and clinical aggravation of porphyria: the evaluation of human urinary 6beta-hydroxycortisol/cortisol ratio as the index of hepatic CYP3A4 activity. 1246 33

In order to validate the ability of ictal single photon emission computed tomography (SPECT) to localize the epileptogenic zone (EZ) in children, we compared in 20 patients aged from 10 months to 17 years (mean 6.5 years) the topography of the area of increased ictal perfusion (IPA), determined on the basis of ictal minus interictal scan values, with that of the EZ determined by intracranial EEG recordings and assessed its relationship with the postsurgical outcome. Eighteen patients had symptomatic epilepsy and 10 had extratemporal epilepsy. All patients except one had an ictal injection (mean time lag from clinical seizure onset was 18 s). Ictal and interictal SPECT images were successively co-registered, normalized, subtracted, smoothed and superimposed on MRI. All patients with ictal injection exhibited one or several IPAs. The topography of the 'highest' IPA, i.e. the maximal cerebral blood flow (CBF) change between ictal and interictal SPECT, significantly colocalized with the site of onset of the discharge, and that of the lower IPAs with that of the area of propagation (P < 0.0001). At a threshold of 30% of the maximal CBF change, the IPAs detected the onset of the discharge with a sensitivity of 0.80 and a specificity of 0.70. The highest IPA localized the EZ in 12 out of 15 patients. In the three others it missed the EZ and showed the area of propagation because of rapid seizure propagation or of infraclinical seizure onset. Among the patients with favourable surgery outcome, the highest IPA colocalized with the resected area in 70% of cases. Ictal SPECT could therefore plays an important role as a non-invasive presurgical method of investigation by optimizing the placement of intracranial electrodes, thus improving the postsurgery outcome of paediatric partial epilepsy.
 ...
PMID:Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome. 1247 11

The August 2002 COM. A 21-year-old male presented with a single episode of generalized tonic clonic seizures. Radiology revealed a cystic tumor with mural nodule suggestive of a pilocytic astrocytoma. However, histopathological examination and electron microscopy revealed features of an intracerebral schwannoma. Therefore, although rare, in an intracerebral cystic lesion with mural nodule, the possibility of an intracerebral schwannoma should be entertained. This is important because this is a benign tumor with favourable response to resection.
 ...
PMID:August 2002: 21-year-old male with cystic intracerebral tumor. 1258 May 52

Neurogenic pulmonary edema (NPE) is an underdiagnosed clinical entity. Its pathophysiology is multifactorial but largely unknown. We report two cases of NPE and review the literature on NPE cases reported since 1990. A 21-year-old man had a seizure episode following cranioplasty. He became increasingly dyspneic, and clinical and laboratory signs of respiratory failure were evident. Chest radiography and computed tomography showed bilateral diffuse infiltrates. After supportive measures were taken, complete respiratory recovery occurred in 72 hours. A 52-year-old woman had several seizure episodes following subarachnoid hemorrhage due to a cavernoma. She became increasingly dyspneic upon arrival at the hospital. After tracheostomy and oxygen support were established, chest radiography showed bilateral diffuse infiltrates. Respiratory recovery was excellent, and the patient was eupneic with normal results of chest radiography 48 hours later. Fourteen reports (21 cases) were found. Thirteen patients were female, and the mean age of the patients was 31.6 years. The most frequent underlying factor was subarachnoid hemorrhage (42.9%). Symptom onset occurred <4 hours after the neurologic event in 71.4% of cases. One third of the patients presented with pink frothy sputum. Chest radiography showed bilateral diffuse infiltrates in 90.5% of cases. Supportive measures included oxygen support and vasoactive drugs. Recovery was usually very rapid: 52.4% of patients recovered in <72 hours. Almost 10% of patients died of NPE. Our two cases had clinical and laboratory features in common with most NPE cases. Physicians should remember NPE when neurologic patients suddenly become dyspneic. The mortality rate is high, but surviving patients usually recover very quickly.
 ...
PMID:Acute neurogenic pulmonary edema: case reports and literature review. 1265 1

The transistorized implanted pacemaker is proving to be an effective and reliable method for long-term pacing of the heart. All patients suffering from Stokes-Adams seizures were first given a trial period of conservative therapy, including isoproterenol (Isuprel), ephedrine, atropine and steroids. Twenty-four pacemaker implants were performed on 23 patients over a 21-month period. The preoperative insertion of a pacemaker cardiac catheter was a very valuable safety precaution. In this way the heart could be safely and reliably paced during the period of preoperative assessment and during the critical periods of anesthetic induction and thoracotomy. Infection did not occur, probably because of careful gas sterilization of the units. Various models of pacemakers are compared, and the reasons for two pacemaker failures are presented. There were two early deaths and one late death in the series. The relationship of progressive coronary disease to recent infarction is stressed. Patients having intermittent heart block frequently showed the picture of "competing pacemakers" postoperatively, but without deleterious effect. Twenty patients, between 54 and 88 years of age, are alive and well at the time of reporting, with excellent pacemaker response and no further Stokes-Adams attacks.
 ...
PMID:THE IMPLANTABLE CARDIAC PACEMAKER. 1411 81

A 21-year-old right-handed man with definite diagnosis of aspartylglucosaminuria (AGU) presented with a 5-year history of progressive severe gait disturbance with frequent falls and generalized epileptic seizures triggered by unexpected stimuli. At one time, he was confined to a wheelchair because of the frequent falls. Electromyogram recording showed a large, excessive and not habituating motor startle response, with the classical and stereotyped order of muscle recruitment. During video-polygraphic recording, we recorded a reflex generalized tonic seizure triggered by a loud, unexpected acoustic stimulus. Brain magnetic resonance (MR) revealed no structural abnormality. A diagnosis of abnormal startle and startle epilepsy (SE) was made. The addition of clonazepam to valproate and phenobarbital led to a dramatic improvement in his abnormal startle and SE, and the patient was able to walk alone unaided. This report illustrates, for the first time, that abnormal startle and SE may occur in AGU and complicate its clinical picture. Recognition of this entity in AGU is important, as progressive gait disorder with frequent falls could be easily misinterpreted as an additional irreversible manifestation of the ongoing neurological deterioration characteristic of AGU.
 ...
PMID:Startle epilepsy complicating aspartylglucosaminuria. 1503 33

A 21-year-old woman with acute lymphoblastic leukemia underwent bone marrow transplantation (BMT). The conditioning regimen consisted of an association of busulfan (BU) and cyclophosphamide (Cy). The day after starting BU, she suffered a generalized tonic-clonic seizure. Electroencephalography (EEG) performed the day after the seizure showed diffuse polyspikes and spike-and-wave discharges. EEG on the following days showed persistent abnormalities (slowing of background activity intermixed with diffuse slow waves and isolated delta and theta bursts). These abnormalities persisted for about 20 days with complete normalization one month after the seizure. We suggest that BU is implicated in these abnormalities and emphasize the importance of EEG recording before and after bone marrow transplantation to disclose BU neurotoxicity.
 ...
PMID:Busulfan neurotoxicity and EEG abnormalities: a case report. 1522 28

A 21-year-old man presented an 11-year history of generalized and temporal lobe epilepsy. In 1993 he was diagnosed by the MRI scan to have intracranial expansive lesion and underwent a subtotal removal of an epidermoid cyst. Two years later a follow-up MRI scan showed the presence of fat in the anterior horns of the lateral ventricles. In 1998 he was reinvestigated because of the increased frequency of epileptic seizures and resistance to pharmacological treatment. MRI scan showed enlargement of the cyst and presence of the same amount of intraventricular fat as in the previous examination. The radical removal of the tumor was carried out and histological examination revealed that in fact we were dealing with a dermoid cyst. During a four-year postoperative follow-up, there was no evidence of recurrence of the tumor and the amount of intraventricular fat remained unchanged. The presence of fat in CSF spaces is an indication of possible presence of specific intracranial pathology, which requires clarification. The quantity of fat may remain unchanged for many years or indefinitely.
 ...
PMID:[The presence of intraventricular fat in a case of dermoid cyst]. 1530 9

Dyke-Davidoff-Masson syndrome is clinically characterized by hemiparesis, hemiplegia, seizures, mental retardation, and facial asymmetry secondary to congenital or early childhood vascular insult. A 21-year-old man with Dyke-Davidoff-Masson syndrome presented with uncontrolled seizures. The authors present the magnetic resonance (MR) and positron emission tomography (PET) findings of this syndrome.
 ...
PMID:Positron emission tomography in Dyke-Davidoff-Masson syndrome. 1610 Apr 87

Fever can precipitate ventricular tachycardia in adults with Brugada syndrome, but such a link has not been reported in children. A 21-month-old white girl presented repeatedly with decreased conscious level and seizures during fever. During a typical episode, rapid ventricular tachycardia was documented. The resting 12-lead electrocardiogram revealed a Brugada electrocardiogram signature. Resting electrocardiograms of the asymptomatic brother and mother were normal, but fever in the mother and pharmacologic stress with ajmaline in the brother revealed Brugada electrocardiogram features. Genetic testing revealed an SCN5A mutation in the affected family members.
 ...
PMID:Brugada syndrome masquerading as febrile seizures. 1742 Feb 62


<< Previous 1 2 3 4 5 6 7 Next >>