Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A recent "Tuberous Sclerosis Research Workshop," held in Cambridge, Massachusetts, under the sponsorship of the National Institute of Neurological and Communicative Disorders and Stroke and the Tuberous Sclerosis Association of America, examined the current state of knowledge about this congenital disorder which frequently results in mental retardation. Workshop participants discussed the controversy over whether diagnostic tests based on the presence of hypomelanotic macules in the skin of newborns are sufficiently reliable to warrant legislated mass screening programs such as the one that will take effect in Massachusetts in June 1986. They also considered the likelihood of developing techniques for the prenatal diagnosis of the disorder in the future.
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PMID:Early diagnosis, genetic marker sought for tuberous sclerosis. 658 29

This report summarizes the multicenter experience with the Thoratec paracorporeal pneumatic ventricular assist device (VAD) (Thoratec Corp., Pleasanton, CA) in small children. Between October 1988 and August 2001, 19 children (11 male, 8 female) with less than 1.3 (mean 1.09, range 0.73-1.29) m2 body surface area (BSA) have been supported with univentricular (9) or biventricular (10) Thoratec VADs in 12 centers in the United States and Germany. Mean patient age was 10 (range 7-14) years, mean weight 31 (range 17-41) kg. Indications for support were end-stage cardiomyopathy in eight patients, myocarditis in three, end-stage congenital heart disease in seven, and transplant graft failure in one patient. Mean duration of support was 43 (range 0-120) days. In patients with cardiomyopathies and myocarditis, survival through discharge occurred in 8 of 11 (72%) patients; however, only 1 of 7 patients with congenital disease survived. Outcome appeared independent of patient size. Neurologic complications were significant and predominant in the congenital disease group. Our experience suggests that the Thoratec VAD can be successfully used in these difficult patients, particularly in children with cardiomyopathies and myocarditis. Congenital disease is associated with increased risk. To reduce thromboembolic risk, we recommend left ventricular as opposed to left atrial inflow cannulation and higher device rates with partial stroke volumes.
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PMID:Thoratec ventricular assist devices in children with less than 1.3 m2 of body surface area. 1465 43

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL), which is genetic in origin. A high index of suspicion is required because this hearing loss is part of a syndrome for which early diagnosis and intervention is required.
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PMID:The MELAS syndrome. Review of the literature: the role of the otologist. 1496 44

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA. Five single nucleotide substitutions within the human mitochondrial tRNALeu(UUR) gene have been reported to be associated with MELAS. Here, we provide in vitro evidence that the aminoacylation capacities of these five hmtRNALeu(UUR) transcripts are reduced to different extents relative to the wild-type hmtRNALeu(UUR) transcript. A thermal denaturation experiment showed that the A3243G and T3291C mutants, which were the least charged by LeuRS, have fragile structures. In addition, the T3291C mutant can inhibit aminoacylation of the wild-type hmtRNALeu(UUR), indicating that it may act as an inhibitor in the mitochondrial heteroplasmic environment.
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PMID:Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations. 1558 30

MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL) that is genetic in origin. Mitochondrial cytopathies can present with a variety of symptoms, but they occasionally present with SNHL as their first manifestation. Two cases of MELAS patients who responded well to cochlear implantation are presented. A review of the literature is also carried out focusing mainly on diagnosis, anesthetic considerations and management of these patients.
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PMID:Cochlear implantation in patients with MELAS syndrome. 1584 11

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesions that did not conform to accepted distributions of vascular territories on cranial magnetic resonance imaging (MRI), normal result of cranial magnetic resonance angiography, hyperintensity on diffusion weighted MRI and apparent diffusion coefficient mapping indicating the presence of vasogenic edema in the fresh stroke-like lesion, and mitochondrial DNA analysis helped to exclude the diagnosis of ischemic cerebral infarction which can also be induced by chickenpox.
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PMID:Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. 1623 Aug 1

Congenital disorder of glycosylation Ia is the most common defect of glycosylation and is due to mutations in phosphomannomutase 2. This leads to aberrant N-linked oligosaccharides. The phenotype of CDG Ia reflects the essential nature of glycosylation and patients typically present with multiple organs affected, with hypotonia, developmental delay, inverted nipples and abnormal fat pads. Later features include retinitis pigmentosa, stroke, cerebellar atrophy and malabsorption. Approximately 20% of patients die in the first year of life and infection is the most common cause of death. Immunological function has not previously been investigated in these patients and the critical role of oligosaccharides on adhesion molecules suggested that haematopoietic cell migration and communication could be disrupted by mutations in phosphomannomutase 2. We characterized the clinical features, performed standard immunological evaluations, and performed specific analyses of neutrophil adhesion molecules on two patients to address this question. Patient neutrophils had diminished chemotaxis but expressed comparable levels of adhesion molecules and rolled on artificial endothelium equivalently to control neutrophils. The most significant feature of the patients' immunological function was poor vaccine responses. These two affected patients were begun on intravenous immunoglobulin with some improvement in their infections.
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PMID:Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia). 1682 48

In an effort to shed light on the mechanism of hemiparetic stroke-like events experienced by patients with congenital disorder of glycosylation type Ia, we evaluated 3 children with this disorder by brain imaging studies and continuous electroencephalogram monitoring during such events. No evidence of ischemia or infarction was revealed on imaging studies and electrographic seizures or intermittent epileptiform activity was demonstrated on electrographic recordings. All 3 patients showed clinical and electrographic improvement after administration of antiepileptic medication. Epileptic phenomena can complicate the stroke-like events of patients with congenital disorder of glycosylation type Ia, and the cause of the hemiparesis may indeed be an active epileptic inhibitory process. As such, electroencephalogram monitoring is warranted, and treatment with anticonvulsant agents is indicated.
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PMID:Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. 1730 46

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA. Patients with this syndrome may present acute onset of sensorineural hearing loss, which is genetic in origin. An impression of the MELAS syndrome is favored because hearing loss is part of the syndrome for some patients with epilepsy. We report a 20-year-old man who suffered from acute onset of bilateral hearing loss with epilepsy and two stroke-like events which recovered without any sequela. Epilepsy with complex partial seizures was controlled by antiepileptic drugs. Brain magnetic resonance images showed high signal lesions in bilateral temporal lobes. Serum levels of pyruvate and lactate were elevated. Muscle biopsy showed ragged-red fibers and molecular genetic study showed a point mutation of the mitochondrial A3243G gene. Mitochondrial disease with the MELAS syndrome was diagnosed and then he was treated with Co-enzyme Q10 and carnitine. The symptoms recovered gradually.
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PMID:Acute hearing loss in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 1796 57

The congenital disorder of glycosylation type Ia (CDG-Ia) presents a broad clinical spectrum. Some patients suffer from acute vascular events (thrombosis and bleeding) and stroke-like events. No correlations have been made between the marked hemostasis abnormalities of CDG-Ia and the occurrence of acute vascular events. We report on 6 patients with CDG-Ia presenting vascular events, then we analyze the clinical and hemostasis data of 39 CDG-Ia patients described in the literature, 17 with vascular events (E) and 21 unscathed from any event (EF), to determine the risk factors for acute vascular events in CDG-Ia. Acute vascular events occurred in patients younger than 15 years, especially with fever and prolonged immobilization. Hemostasis and liver cytolysis were statistically abnormal in patients younger than 5 years whatever the occurrence of vascular events and they normalized with time. Higher factors VIII and IX activities were statistically observed in the E cluster (p=0.03) compared to the EF cluster. The activity/antigenicity ratio for protein C (p=0.02) was also higher in the E group. CDG-Ia patients younger than 15 years old are at risk of acute vascular events. The paradoxical results-abnormal VIII and IX factors in EF patients and normal results in E patients, while XI, antithrombin, protein C, ASAT and ALAT are abnormal in both groups, could suggest a disequilibrium between prothrombotic and antithrombotic factors in the E group. Vascular events may also occur in patients where glycoproteins are proportionally more hypoglycosylated, particularly protein C.
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PMID:Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. 1809 57


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