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)

A 37-year-old Korean woman was admitted at 31 weeks gestation with exertional dyspnea. Three years ago she was diagnosed as having Graves' disease. Thyrotoxicosis-induced dilated cardiomyopathy was diagnosed by echocardiography. During management, a first attack of seizure occurred. Brain MRI and MRA showed occlusion of both internal carotid arteries, which confirmed the diagnosis of Moyamoya disease. Coexistence of dilated cardiomyopathy in thyrotoxicosis and Moyamoya disease is rare and the pathogenic correlation is discussed.
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PMID:Dilated cardiomyopathy in thyrotoxicosis and Moyamoya disease. 1157 63

The purpose of this study was to review the initial experience of a university hospital with Implantable Loop Recorders (ILR) for diagnosis of recurrent unexplained syncope or presyncope. Twelve patients with syncope or presyncope of unknown etiology (who had a negative tilt table test, electrophysiologic study, and neurologic work-up) underwent implantation of ILR. All implants were performed using the Reveal ILR (Medtronic AVE, Santa Rosa, California). The 8 cc device is 61 mm long, 19 mm wide, 8 mm thick and weighs 17 grams. It has 18 months of battery life and has 2 electrodes with 38.5 mm spacing. The device is nonvascular and is implanted approximately 2 fingerbreadths below the clavicle in a subcutaneous pocket (1.5 inches long) and is secured via polydacron suture to the pre-pectoral fascia/pectoralis muscle. Twelve patients with a mean age of 61 +/- 22 years received the ILR. Ten patients had syncope and 2 had presyncope. Three patients had coronary artery disease and 2 had dilated cardiomyopathy. ILRs were implanted for a mean follow-up period of 7.2 +/- 5.8 months (range, 1 day to 18 months). Two patients still continue to be monitored at the time of this report. The mean number of events prior to ILR was 6.0 +/- 5.4. Eight patients (66%) had recurrent syncope after implantation. One patient was not available for follow-up. There were no significant complications from the implant. In 5/12 patients (42%), the ILR helped to diagnose the etiology of the syncopal episode. Syncope was secondary to asystole in three patients, junctional bradycardia in another patient, and seizure activity in a fifth patient (high-frequency noise recorded on the electrocardiogram during sinus rhythm). The 4 patients with ILR-documented bradyarrhythmias underwent permanent pacemaker implantation and are alive and well. ILR implantation is a simple, useful and safe method in assisting with the diagnosis of recurrent unexplained syncope or presyncope after an inconclusive electrophysiologic and neurologic evaluation.
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PMID:Initial clinical experience with implantable loop recorders. 1173 93

Cardiomyopathy and neuromuscular abnormalities may simultaneously coexist and present with defects in mitochondrial DNA and bioenergetic function. We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's ataxia. All tissues examined displayed marked defects in respiratory complex activities. Five patients had abundant large-scale mitochondrial DNA deletions and one patient displayed a pathogenic point mutation previously reported with mitochondrial cytopathy. In this cohort, patients with hypertrophic cardiomyopathy displayed a higher incidence of complex I defects, fewer DNA deletions and mitochondrial structural abnormalities and were less often associated with developmental delay phenotype compared with patients with dilated cardiomyopathy. Although structural abnormalities are present in a subset of patients, evaluation of respiratory enzyme activity appears to be most informative whether tissues examined were derived from heart or skeletal muscle. Defects in mitochondrial DNA and bioenergetics are frequently present in children with cardiomyopathy presenting with a variety of neurologic abnormalities and are amenable to biochemical and molecular analysis.
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PMID:Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. 1254 31

The inflammatory response of host endothelial cells is included in the development of vascular damage observed in enterohemorrhagic Escherichia coli (EHEC) infection, resulting in hemolytic uremic syndrome (HUS). The response to a non-conventional treatment for a group of D+ HUS (diarrhea positive HUS) patients, with clinical hemodynamic parameters of septic shock was evaluated in this prospective study (1999-2003). Twelve children 2.8 +/- 0.6 years old, with D+ HUS produced by E. coli infection with serological evidence of Shiga toxin, presenting severe unstable hemodynamic parameters and neurological dysfunction at onset, were studied. The protocol included fresh frozen plasma infusions, methylprednisolone pulses (10mg/k/day) for three consecutive days and plasma exchange for five days, starting after admission to the intensive care unit (ICU). The twelve patients with increased pediatric risk of mortality (PRISM) score: 18 +/- 2 after admission to intensive care unit (ICU), required dialysis for 17.4 +/- 4 days, mechanical ventilator assistance for 10 +/- 1 days and early inotropic drugs support for 10.5 +/- 1 days. Neurological dysfunction included generalized tonic-clonic seizures lasting for 5.4 +/- 1 days, n:8. Focal seizures were present in the remaining patients. Dilated cardiomyopathy was present in 6 children. Eight children suffered hemorrhagic colitis. Nine patients survived. Within one year of the injury, neurological sequelae, Glasgow outcome scale (GOS) 3 and 4, were present in two patients, chronic renal failure in one patient. We suggest that early introduction of this protocol could benefit D+ HUS patients with hemodynamic instability and neurological dysfunction at onset. Further studies are likely to elucidate the mechanisms involved in this early adverse clinical presentation of D+ HUS patients.
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PMID:Postdiarrheal Shiga toxin-mediated hemolytic uremic syndrome similar to septic shock. 1629 34

Unhealthy alcohol use is among the leading causes of morbidity and mortality in the United States. Among military personnel, service members between the ages 18 and 25 had a 27.3% prevalence of heavy drinking in the previous 30 days, compared to 15.3% among civilians in the same age group. In the civilian world, > 100 million patients are treated in U.S. emergency departments (ED) annually; 7.9% of these visits are alcohol related. Alcohol is associated with a broad range of health consequences that may ultimately present in the ED setting: traumatic injuries (e.g., motor vehicle crashes, intentional violence, falls); environmental injuries (e.g., frostbite); cardiovascular problems (e.g., hypertension, dilated cardiomyopathy); gastrointestinal disorders (e.g., hepatitis, pancreatitis, gastrointestinal bleeding); neurological problems (e.g., encephalopathy, alcohol withdrawal, withdrawal seizures), as well as psychological problems (e.g., depression, suicide). Seminal work has been done to create behavioral interventions for at-risk drinkers. These motivational interventions have been found to be successful in encouraging clients to change their risky behaviors. We present such a technique, called the Brief Negotiated Interview as performed in a civilian ED setting, in hopes of adapting it for use in the military context. Military health care providers could easily adapt this technique to help reduce risky levels of alcohol consumption among service members, retirees, or military dependents.
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PMID:Brief interventions to reduce harmful alcohol use among military personnel: lessons learned from the civilian experience. 1680 38

We document the presentation profiles, treatment strategies, and clinical outcomes in a relatively large cohort of pediatric patients with intracardiac thrombi (ICT). We performed a retrospective review of patients diagnosed with ICT by echocardiography at a tertiary pediatric hospital during a 10-year period. These patients received medical therapy or thrombectomy. We provided echocardiographic descriptions of the ICT-size, chamber location, and mobility/morphology. The outcome measures were ICT (persistence, resolution, or embolization), effectiveness of therapy, and patient morbidity and mortality. There were 40 ICT diagnosed in 31 patients (22 males and 9 females). Mean age at diagnosis was 8.8 years (range, 15 days to 18 years). Overall mortality was 12/31 patients (39%); only one death was attributed to ICT embolization. Embolic events occurred in 4/31 patients (13%). The most common initial therapies included heparin infusion (n = 15), warfarin (n = 7), and aspirin (n = 7). The ICT resolved with medical therapy alone in 19/30 patients (63%). One patient required surgical thrombectomy. The cohort was divided into group 1 (dilated cardiomyopathy), group 2 (status post Fontan operation), and group 3 (other diagnoses). In group 1 (n = 11), there were 8 deaths. Embolization occurred in 2/5 large ICT, resulting in cerebral infarction and death (n = 1) and renal infarction (n = 1). The most common ICT location was the left ventricle (n = 10). Severe ventricular systolic dysfunction was present in 10/11 patients (91%). In group 2 (n = 9), there was 1 death. Embolization occurred in 1/7 large ICT, resulting in seizures and temporary paresis. All ICT were located in the Fontan pathway. Severe ventricular systolic dysfunction was present in 2/9 patients (22%). In group 3 (n = 11), there were 3 deaths. Embolization occurred in 1/9 small ICT, resulting in coronary emboli. ICT are most commonly diagnosed in pediatric patients with dilated cardiomyopathy or patients status post Fontan operation. The majority of ICT resolve with medical therapy. Larger ICT tend to embolize more frequently, and the morbidity secondary to embolization is significant. Rarely is mortality due to ICT embolization. The prognosis is poor for patients with left ventricular ICT or ICT in the presence of ventricular systolic dysfunction.
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PMID:Intracardiac thrombi in pediatric patients: presentation profiles and clinical outcomes. 1740 82

The X-linked McLeod syndrome is defined by absent Kx red blood cell antigen and weak expression of Kell antigens, and this constellation may be accidentally detected in routine screening of apparently healthy blood donors. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurological disorder resembling Huntington's disease. Onset of neurological symptoms ranges between 25 and 60 years, and the penetrance of the disorder appears to be high. Additional symptoms of the McLeod neuroacanthocytosis syndrome that warrant therapeutic and diagnostic considerations include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiopathy mainly manifesting with atrial fibrillation, malignant arrhythmias and dilated cardiomyopathy. Therefore, asymptomatic carriers of the McLeod blood group phenotype should have a careful genetic counseling, neurological examination and a cardiologic evaluation for the presence of a treatable cardiomyopathy.
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PMID:McLeod syndrome: a neurohaematological disorder. 1768 54

Guadalupe Victoria, the first President of Mexico, passed away in 1843 uictim of an ailment that, at the time, was diagnosed as epilepsy. The clinical data and the pathologic findings, however, suggest the possibility that Victoria had an underlying disease that was responsible for the seizures that affected him. In this article I propose that Guadalupe Victoria had in fact Chagas Disease, and that he was infected with this parasitic malady while he lived in the tropical jungles of Veracruz, in eastern Mexico. Even though there aren't many published works regarding seizures secondary to chronic Chagas Disease, there are good descriptions of epileptic syndromes in patients with this infection. At the same time, the cardiac findings in Victoria's autopsy support the idea that he had some kind of cardiac pathology; in this case Chagasic dilated cardiomyopathy, which ultimately led to his death.
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PMID:[The epilepsy of Guadalupe Victoria]. 1895 55

Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mitochondrial configurations under electron microscopy, as well as molecular analysis. Of the 14 cases, 11 presented clinical features before age 1 (79%). All 14 presented with variable symptoms of central nervous system involvement. The three most common symptoms were developmental delay (12/14; 86%), seizures (11/14; 79%), and altered consciousness (8/14; 57%). Extra-central nervous system manifestations were observed in 10 of the 14 cases, the most common symptoms being failure to thrive (5/14; 36%), pericardial effusion and dilated cardiomyopathy (3/14; 21%), and liver function impairment (3/14; 21%). In all 14 cases, neuroimaging revealed abnormal findings over the basal ganglion, brainstem, or both. The putamen was the most common lesion site in the basal ganglia (11/12; 92%). Cranial magnetic resonance imaging was used for follow-up in 6 cases because of changes in clinical features; in all 6 cases the imaging revealed evolution in the brain. Cranial magnetic resonance spectroscopy was performed in 3 cases and in 2 of them revealed lactate peaks during deterioration of the disease course. The prognosis for Leigh syndrome was poor during long-term follow-up. Seven cases were early fatalities, before 1 year and 6 months of age. Follow-up cranial magnetic resonance imaging together with magnetic resonance spectroscopy in cases with clinical evolution is helpful for monitoring this disease.
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PMID:Leigh syndrome: clinical and neuroimaging follow-up. 1913 20

Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy.
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PMID:A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. 2039 63


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