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)

We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; American Psychiatric Association, 1994], and International Classification of Diseases ( ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic Interview -Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX,+idic(15)(q11.2), 47,XX, +idic(15) (q11.2), and 47,XY,+idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies.
 ...
PMID:Three probands with autistic disorder and isodicentric chromosome 15. 1089 16

Epilepsy is a neurological disorder, but many patients with epilepsy also have psychiatric symptoms. These symptoms and the underlying psychopathology vary considerably among patients, and the classification of these symptoms is disputed. Some classifications are based on the psychiatric symptomatology, the presence or absence of disturbance of consciousness, the EEG abnormalities, or the temporal relation between the symptoms and the seizures. The International Classification of Mental and Behavioral Disorders: Clinical Description and Diagnostic Guidelines (ICD-10) is accepted worldwide in psychiatry. The feasibility of classifying the psychiatric symptoms associated with the epilepsy according to the ICD-10 classification was studied. It was concluded that only symptoms in cases of epilepsy where there is a clear sensorium might be appropriately classified by the ICD-10. The classification of psychiatric symptoms in epilepsy needs further investigation.
 ...
PMID:Classification of psychiatric symptoms in patients with epilepsy. 1115 11

Few data exist on the frequency, aetiology and outcome of cerebrovascular complications of bone marrow transplantation (BMT). We reviewed all patients undergoing BMT at the Fred Hutchinson Cancer Research Center, Seattle, Wash., USA (a large referral institution) over 3 years. We reviewed ICD-9 (International Classification of Diseases) codes for ischaemic stroke, seizure, intracranial haemorrhage and brain infection. Using standardized forms, we paid detailed attention to clinical features and demographics, oncological diagnosis, conditioning regimens, neurological history, comorbidities, time from BMT to ictus, stroke subtype, radiological and pathological features, and outcomes. We identified 36 patients with stroke from 1245 patients who had BMT (2.9%) over 3 years. These patients' median age was 35 (range 5-60, interquartile range 25-45) years. The most common causes of stroke were intracranial haemorrhage related to thrombocytopenia (38.9%) and infarction or haemorrhage secondary to fungal infection (30.6%). Twenty-five patients (69.4%) died from their stroke; none survived without disability. Using a logistic regression model, we found that neither demographic (e.g. age, gender) nor clinical (e.g. oncological diagnosis, type of BMT, time of stroke after BMT) factors predicted outcome. Stroke occurs relatively frequently (incidence almost 3%) after BMT, has a relatively high frequency of infection-triggered events, has a neurological outcome not easily predicted from available data and is often fatal.
 ...
PMID:Stroke after bone marrow transplantation: frequency, aetiology and outcome. 1133 6

The primary aim of the audit described was to examine antiepileptic drug use among adult in-patients with learning disability. A secondary aim was to examine investigation in those patients. For the purposes of this paper "Learning disability" is synonymous with ICD-10 "Mental Retardation", "Mental Handicap" or "Intellectual Impairment" and should not be confused with the North American use of the term which refers to discrete, specific problems in mental abilities such as reading. A total of 75 adult patients on both the Northgate and Prudhoe sites (managed by Northgate and Prudhoe NHS Trust) were identified as being treated with antiepileptic drugs (AEDs) for postulated epilepsy. Only 12 (16%) patients were being treated with three AEDs or more, the remainder being on either one or two AEDs. All patients with a history of status epilepticus were prescribed rectal diazepam or, more rarely, intranasal midazolam. The number and type of investigations performed on patients varied widely and was sometimes limited by the patient's ability to co-operate with procedures. Overall, 28 patients were identified who might benefit from a reduction in the number of AEDs prescribed. In 15 of these patients antiepileptic drug regime was currently being reduced. The increased utilization of sleep/sedated electroencephalogram (EEG) and magnetic resonance imaging (MRI--for partial seizures), where practical, may also increase diagnostic accuracy in identifying epilepsy and its aetiology. Audit will be repeated in 12 months.
Seizure 2001 Oct
PMID:The use of antiepileptic drugs in learning disabled people with epilepsy: an audit of adult in-patients in a treatment and continuing care service. 1174 6

The study objectives, based on federal and state legislative language, were to objectively define symptoms and signs commonly agreed on by "prudent laypersons" as "emergency medical conditions." After comprehensive tabulation of symptom classifications from the International Classification of Diseases (ICD-9), we performed a survey of nonmedical laypersons. Data analysis included descriptive statistics, proportional calculations, and 95% confidence intervals. A minority of symptoms and signs (25/87, 29%) were considered emergency medical conditions by more than half of nonmedical survey respondents who were self-defined as prudent laypersons. The leading conditions deemed emergencies were loss of consciousness, seizure, no recognition of one side of the body, paralysis, shock, gangrene, coughing blood, trouble breathing, chest pain, and choking. Pain, except for renal colic or chest pain, was not considered an emergency. No symptoms or signs specifically related to gynecologic disorders were considered emergencies. Most symptoms and signs tabulated in the diagnostic coding manual, ICD-9, are not considered emergency medical conditions by self-designated prudent laypersons. These include many conditions that are commonly investigated and treated in the emergency department setting. Use of the prudent layperson standard for reimbursable emergency health services may not reflect the actual scope of symptoms necessitating emergency care.
 ...
PMID:The "prudent layperson" definition of an emergency medical condition. 1178 4

The overall prevalence of psychiatric disorders in epileptic patients is estimated between 19 and 62%. Depressive disorders may be the most common psychiatric disorders and the main reason for psychiatric hospitalisation and taking psychotropic drugs. The underdiagnosis and undertreatment of depressive disorders among epileptic patients represent a problem of considerable magnitude. The aim of the present study was to evaluate the prevalence of depressive disorders among patients with primary epilepsy and to determine the risk factors of the occurrence of the depressive illness. The survey was conducted in a outpatient epilepsy clinic in the Ibn Rochd University Hospital Centre in Casablanca. All patients with idiopathic or cryptogenic epilepsy aged 15 Years and above, were eligible, except for patients with severe physical and mental disabilities. Neurologists diagnosed the epilepsy based on clinical criteria with electroencephalograms data. The depressive disorders met a psychiatrist's evaluation of an ICD-10 criterion. Ninety-two subjects participated in the survey, 57.6% were men and the mean age was 30.3 +/- 10.8 Years. The epilepsy age of onset was 16.3 +/- 11.4 Years with an average duration of 14.1 +/- 9.2 Years. The prevalence of depressive disorders among epileptic patients in our survey was 18.5%. According to sex, the prevalence was 23.1% in women and 15.1% in men. The depressed patients were compared with the remaining patients without depression with regard to seizure variables and sociodemographic characteristics. The epilepsy-depression and epilepsy-control groups did not differ significantly in the duration of epilepsy or in the type of anticonvulsant therapy (mono versus polytherapy). Three variables were significantly different between the two groups. The mean age in the epilepsy-depression group was significantly higher (34.4 +/- 9.6 Years versus 29.4 +/- 10.9, p<0.03), the mean age of epilepsy age of onset was also higher in the epilepsy-depression group than in the epilepsy-control group (21.8 +/- 11.9 Years versus 15.04 +/- 11.0, p<0.03) and the seizure frequency per week was more important among depressed epileptic patients (2.4 + 5.2 seizures versus 0.4 + 1.5, p<0.007). The present survey confirms the findings of previous studies that the prevalence of the comorbidity between epilepsy and depression is common in specialised outpatient units. The detection and the treatment of depressive disorders among the epileptic patients remains a very great challenge in the management of the epileptic illness. It will improve the quality of life of these patients. A closer involvement of psychiatric and psychological treatment in patient management is necessary.
 ...
PMID:[Depressive disorders among epileptic patients attending a specialised outpatient clinic]. 1502 75

Prevalence of depression among the people with epilepsy is between 40 and 75%, which is higher than in population and among the patients with other chronic illness. Higher percentage of suicides and hospitalizations due to affective disorders make the diagnosis and evaluation of risk factors very important for further treatment. The following study has been performed on the group of one hundred patients with epilepsy lasting more than 5 years, aged 16-55, who were hospitalized or consulted in 2001 year. Depression was diagnosed on the basis of ICD-10 diagnostic scheme using Beck, Hamilton and Montgomery-Asberg Depression Scales. Patients were divided into three groups (with depression, dysthymia and controls). For statistical analysis chi2 (Fisher exact test) and Mann-Whitney test were used. Comparing to controls, the complex partial seizures or simple partial and complex ones were seen more often in patients with depression (p < 0.003) and in patients with dysthymia comparing to controls ones (p < 0.001). All types of epileptic seizures analyzed during one month revealed statistically significant differences between the groups (Mann-Whitney test: controls vs dysthymic ones p < 0.02; controls vs depression ones p < 0.03). Simple partial seizures and (or) complex partial ones and high percentage of complex ones were found to be statistically significant risk factors for depression and dysthymia.
 ...
PMID:[Description of mood disorder in patients with epilepsy]. 1551 28

Mood disorders in patients with epilepsy are not frequently diagnosed and not treated. Because of the high prevalence of depression and the resulting high suicide rate, precise diagnosis and effective therapy are very important. Frequently, the clinical pictures of depressive syndromes in epileptics do not correspond with those described in operationalized classification systems such as ICD-10 or DSM-IV. The incidence of depressive disorders in epileptics is estimated in the literature to be 30%-70%. Multifactorial pathogenetic models include the type of seizures, the location of the epileptic focus, and neurotransmitter dysfunctions, as well as hereditary and psychosocial influences, and negative psychotropic effects of antiepileptic drugs. Despite an insufficient number of available controlled studies, based on the current data, treatment with the newer serotonergic antidepressants can be recommended for patients with epilepsy.
 ...
PMID:Mood disorders and their treatment in patients with epilepsy. 1574 79

The current study was performed to determine possible gender differences among risk factors for suicidal behavior in epilepsy. A special rating scale for assessment of suicidality was designed. The risk of suicide attempt was higher in epilepsy with concomitant diagnoses of organic affective disorder (F=06.3, ICD-10) and cognitive impairment (F=07.62, ICD-10). Risk was higher among females than males. Early age of epilepsy onset and high frequency of secondary generalized, simple partial, and all seizures were risk factors for suicidality in males, whereas low frequency of complex partial seizures was the risk factor in females. Daily dose of a classic antiepileptic drug was a risk factor for males, whereas daily dose of phenobarbital was a risk factor for both genders. Daily dose of carbamazepine and valproate is inversely correlated with suicidal behaviour in women, but not in men. The results obtained are discussed in the context of a paradigm of gender dimorphism as an indicator of evolution of Homo sapiens.
 ...
PMID:Gender differences in risk factors of suicidal behavior in epilepsy. 1582 Mar 53

The aim of this study was to evaluate the role of the GRIK3 functional polymorphism (Ser310Ala) in the pathogenesis of alcoholism. This polymorphism was investigated in two types of studies: (1) the association study in a whole group of alcoholics (116 patients fulfilling ICD-10 alcohol dependence (AD) criteria and 255 controls, Polish descent) and homogenous overlapping subgroups of patients with: a history of delirium tremens and/or alcohol seizures, early age of onset of alcoholism (AOO<26 years), a co-occurrence of dissocial personality disorder, a history of familial alcoholism; (2) the family-based study (using Transmission Disequilibrium Test (TDT) in 100 Polish families with alcohol dependence). The history of alcoholism was obtained using SSAGA (Polish version). GRIK3 functional polymorphism was determined using PCR. TDT revealed an adequate transmission of both alleles to the affected offspring in the whole group of alcohol families (29 x Ser, 24 x Ala; chi2=0.472; d.f.=1; p=0.492) and in the homogenous subgroups of families. No significant associations between any of the above mentioned alcohol phenotypes and Ser310 allele were observed (the whole AD group: p=0.66 AD with delirium and/or seizures: p=0.521; early onset AD: p=0.868; AD with familial history of alcoholism: p=0.798 and AD with dissocial personality disorder: p=0.618). These findings do not seem to support the hypothesis of the role of this polymorphism in the pathogenesis of alcoholism.
 ...
PMID:Family-based and case-control association studies of glutamate receptor GRIK3 Ser310Ala polymorphism in Polish patients and families with alcohol dependence. 1635 44


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