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)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%),
urinary incontinence
(86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic
seizures
. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.
...
PMID:The phenotypic spectrum of CADASIL: clinical findings in 102 cases. 981 28
Chemotherapy for malignant brain tumors has a limited efficacy largely due to restricted blood-brain barrier permeability for chemotherapeutic drugs. Intraarterial chemotherapy (IAC) has the advantage of increased uptake during the first passage of the drugs through tumor capillaries. Initial IAC trials had less than satisfactory results due to unacceptable toxicities. Between 1987 and 1996, 173 patients with primary and metastatic brain tumors were treated with intraarterial (intracarotid and/or intravertebral) cisplatin and etoposide (VP-16). Out of these, 168 patients, who received a total of 438 cycles, were evaluated for the incidence of toxicities. Patients received either cisplatin at 40 mg/m2 and VP-16 at 20 mg/m2 or cisplatin at 60 mg/m2 and VP-16 at 40 mg/m2. Nausea and vomiting were the most common toxicities (42 patients, 14% of cycles). Arterial puncture was associated with a 1.6% incidence of groin hematomas (6 patients), and a 0.7% incidence of failure to canulate the carotid or vertebral arteries (3 patients). Neurologic toxicities included headache (1.4% of cycles, 5 patients), focal
seizures
(1.4% of cycles, 5 patients), transient confusion and urinary retention/
incontinence
(1.9% of cycles, 8 patients), and blurred vision (0.9% of cycles, 4 patients). We have not seen visual loss, strokes, major vessel dissection or thrombosis, or myelosuppression. Toxicity incidence was higher in patients with metastatic brain tumors than in those with primary brain tumors (34% versus 17%, p < 0.001). It was also higher in patients who had brain radiation therapy (RT) prior to IAC than in those who had RT concomitant with IAC (31% versus 19%, p = 0.05). No significant difference in toxicity incidence was noticed between patients who received RT concomitant with IAC and those who received RT after IAC (19% and 23% respectively, p = 0.08). Intracarotid chemotherapy given prior to RT resulted in 23 months of median survival for patients with glioblastoma multiforme. Intraarterial chemotherapy with cisplatin and VP-16 is a relatively safe treatment modality, especially in patients with primary brain tumors who have not received brain radiotherapy.
...
PMID:Toxicities related to intraarterial infusion of cisplatin and etoposide in patients with brain tumors. 1036 Apr 81
Early-onset benign childhood occipital
seizures
(EBOS) described by Panayiotopoulos constitute the commoner after the rolandic phenotype of a childhood
seizure
susceptibility syndrome. EBOS are the clinical representative of occipital spikes. Their cardinal features are infrequent (often single) partial
seizures
manifested with deviation of the eyes and vomiting, frequently evolving to hemi- or generalized convulsions. Ictal behavioral changes, irritability, pallor, and rarely cyanosis, and eyes wide open are frequent. Retching, coughing, aphemia, oropharyngolaryngeal movements, and
incontinence
may occur. Consciousness is usually impaired or lost, either from the onset or the course of the fits, but in a few children, it may be preserved. Duration varies from a few minutes to hours (partial status epilepticus).
Seizures
are usually nocturnal, but semiology is similar in nocturnal or diurnal fits. Onset is between 1 and 12 years with a peak at 5 years. One third of children have a single
seizure
, the median total number of fits is two to three, and the prognosis is invariably excellent, with remission usually occurring within 1 year from onset. A few children may later develop rolandic or other benign partial
seizures
. The likelihood to have
seizures
after age 12 years is exceptional and rarer than that of febrile convulsions. EEG shows occipital paroxysms demonstrating fixation-off sensitivity, but random occipital spikes, occipital spikes in sleep EEG alone, or normal EEG may occur. Centrotemporal and other spike foci may appear in the same or more frequently in subsequent EEGs. The EEG does not reflect clinical course and severity.
...
PMID:Early-onset benign childhood occipital seizure susceptibility syndrome: a syndrome to recognize. 1038 32
We report a case of neurosarcoidosis in which urodynamic studies showed neurogenic bladder dysfunction. A 30-year-old man began to have slowly progressive gait ataxia of vestibular origin, deafness, and hallucination, which developed into versive
seizure
and stupor. Brain computed tomography and magnetic resonance imaging showed the anteromedial frontal lobe lesion with mild ventricular enlargement. The cerebrospinal fluid examination revealed pleocytosis with raised total protein and angiotensin-converting enzyme levels. Endoscopic lung biopsy showed epithelioid granuloma. Oral prednislone (60 mg/day) ameliorated his symptoms. After tapering steroids, however, he developed urinary urgency, frequency, urge
urinary incontinence
, and a relapse of gait ataxia. The urodynamic study showed detrusor hyperreflexia. Prednisolone treatment again improved his urinary and neurological symptoms. The anteromedial frontal lobe lesion seems to be responsible for the micturitional disturbance in our patient with neurosarcoidosis.
...
PMID:Micturitional disturbance in a patient with neurosarcoidosis. 1079 84
Clozapine has demonstrated superior efficacy in relieving positive and negative symptoms in treatment-resistant schizophrenic patients; unlike other antipsychotics, it causes minimal extrapyramidal side effects (EPS) and has little effect on serum prolactin. Despite these benefits, the use of clozapine has been limited because of infrequent but serious side effects, the most notable being agranulocytosis. In recent years, however, mandatory blood monitoring has significantly reduced both the incidence of agranulocytosis and its associated mortality. The occurrence of
seizures
appears to be dose-related and can generally be managed by reduction in clozapine dosage. Less serious and more common side effects of clozapine including sedation, hypersalivation, tachycardia, hypotension, hypertension, weight gain, constipation,
urinary incontinence
, and fever can often be managed medically and are generally tolerated by the patient. Appropriate management of clozapine side effects facilitates a maximization of the benefits of clozapine treatment, and physicians and patients alike should be aware that there is a range of benefits to clozapine use that is wider than its risks.
...
PMID:Review and management of clozapine side effects. 1081 Dec 38
Quantitative assessment of
seizure
severity has been approached using a variety of systems. This review describes currently available methods and possible new approaches to
seizure
assessment for clinical trials. A review of the literature on methods of
seizure
assessments resulted in tabulation of the
seizure
rating scales known as VA, Chalfont-National Hospital, Liverpool, Hague, and the Occupational Hazard Scale.
Seizures
have been evaluated by simply counting all events, counting events by type, by clinician ratings, patient ratings, and combinations. Each of the scales has advantages and disadvantages. Most scales share core components:
seizure
frequency,
seizure
type,
seizure
duration, postictal events, postictal duration, automatisms,
seizure
clusters, known patterns, warnings, tongue biting,
incontinence
, injuries, and functional impairment. This review revealed a partial consensus about aspects of
seizures
that are important markers for severity. However, usefulness of the existing scales is limited by lack of data on responsiveness. New approaches are needed to assess changes in
seizure
severity as a result of an intervention in a clinical trial.
...
PMID:Quantitative assessment of seizure severity for clinical trials: a review of approaches to seizure components. 1120 95
A 24 years male presented with daily episodes of uncontrollable laughter followed by
urinary incontinence
since the age of nine years. Some of these attacks progressed to generalized tonic-clonic
seizures
. General and neurological examination did not reveal any abnormality. Ictal and interictal video EEGs were normal. MRI showed a hypothalamic hamartoma. Interictal SPECT scan showed normal perfusion in the hamartoma. SPECT scan obtained four minutes after beginning of
seizure
showed that the perfusion increased in right cingulate gyrus but not in the hamartoma, suggesting the involvement of the cingulate gyrus in the
seizure
origin or pathway.
...
PMID:Gelastic epilepsy--a case report with SPECT studies. 1136 Dec 81
The clinical differentiation between epileptic
seizures
(ES) and non-epileptic
seizures
(NES) is often difficult and mostly based on the presence or absence of widely recognized features of ES such as tongue biting, falling,
incontinence
or concomitant epileptic abnormalities in the electroencephalogram (EEG). We retrospectively analysed the records of all patients referred to our Epilepsy Centre for refractory epilepsy and finally diagnosed with NES between 1980 and 1999 ( n= 103), half of them also exhibiting ES. The mean time-lapse between first attack and NES diagnosis was 8.7 +/- 1.3 years and 16.5 +/- 1.4 years for the NES and NES + ES groups respectively. At least one of the usual signs associated with generalized tonic-clonic
seizures
(tongue biting, falling or
incontinence
) was reported by 66% and 60% of patients with NES or NES + ES respectively. Interictal EEG abnormalities were recorded in 16% of NES patients vs. 80% of NES + ES patients. In the NES group, delay before establishing the correct diagnosis was significantly longer when the patients exhibited > or =1 symptom(s) of generalized
seizures
, or when patients exhibited interictal EEG abnormalities. Upon admission, 72% of NES patients and all NES + ES patients were being treated with antiepileptic drugs (AEDs).We conclude that EEG or clinical abnormalities suggestive of epileptic
seizures
are common in undiagnosed NES patients. Such diagnostic pitfalls, besides considerably delaying NES diagnosis, also considerably delay appropriate treatment implementation.
Seizure
2002 Apr
PMID:Non-epileptic seizures: delayed diagnosis in patients presenting with electroencephalographic (EEG) or clinical signs of epileptic seizures. 1201 63
This study aimed to assess the risks and benefits of the co-administration of lamotrigine and valproate in a pediatric population with refractory epilepsy. Twenty-eight children who received lamotrigine and valproate during co-medication were evaluated. Outcome measurements were established according to efficacy in
seizure
control, adverse effects, and tolerability. Treatment was considered effective when >50% frequency reduction was obtained. Adverse effects were also analyzed and in patients who presented them the mode of administration was compared with those who did not to verify the importance of this factor. Association of lamotrigine and valproate was considered effective in 64.3% of all patients, regardless of the
seizure
type.
Seizure
-free status was obtained in six patients. Drop attacks and secondary generalized tonic-clonic
seizures
were reduced in five patients, who remained under treatment despite less than the satisfactory (<50%)
seizure
decrease. Tremor occurred in six patients;
urinary incontinence
and ataxia in one. Skin rash also occurred, as an early manifestation, in two patients, both with a previous history of hypersensitivity to antiepileptic drugs. Causes for discontinuation were inefficacy of treatment in six patients and presence of adverse effects in two. In our series,
seizure
control was obtained in most children with refractory epilepsy, some of whom had a previous history of unsatisfactory response to lamotrigine and valproate, either in monotherapy or polytherapy. Adverse effects were uncommon, but skin rash was observed in higher proportions than in other series with lamotrigine or valproate. Nevertheless, these risks may be lessened with slow introduction and by exclusion of patients with a previous history of hypersensitivity.
...
PMID:Lamotrigine and valproate: efficacy of co-administration in a pediatric population. 1287 97
We observed two families with a dominantly inherited complex neurological syndrome with onset in adulthood. Family F included 9 affected in four generations. One patient showed prominent anticipation of onset age. Onset was with cerebellar signs followed by dementia, psychiatric symptoms,
seizures
, and extrapyramidal features. Family M included 14 affected individuals in five generations. Presenting symptoms were either psychiatric and cognitive impairment or a cerebellar syndrome. Extrapyramidal features, dysphagia,
incontinence
,
seizures
, and myoclonus may occur. In both families magnetic resonance imaging showed marked atrophy of the brain and cerebellum. Molecular analyses demonstrated an expanded CAG/CAA repeat in the in the TATA box-binding protein (TBP) gene (SCA17).
...
PMID:Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. 1459 69
<< Previous
1
2
3
4
5
6
7
8
9
10
Next >>