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Biomedical subjects

W D Graf

Publications and source records attributed to W D Graf.

28 records · Page 2Linked to original sources
PubMed1995

Predicting outcome in pediatric submersion victims.

STUDY OBJECTIVE: To predict outcome in children after near-drowning. DESIGN: Retrospective cohort study. Vegetative state and death were classified as unfavorable outcomes, whereas all other outcomes were classified as favorable. Demographic, episode-related, clinical, laboratory, and treatment variables available at the time of admission were evaluated for their usefulness in predicting outcome. SETTING: Pediatric referral hospital. PARTICIPANTS: Children admitted after submersion injury in non-icy waters. RESULTS: The study cohort comprised 194 children (median age, 2.6 years; range, 5 months to 18 years); 131 were neurologically normal at the time of discharge, 10 had some degree of neurologic impairment, 15 were in a vegetative state at the time of discharge, and 38 died. We used a combination of partitioning and logistic regression to combine variables in a prediction rule that was always correct when unfavorable outcome was predicted. The final rule predicted favorable outcome for all children who were not comatose. Among comatose children, unfavorable outcome was predicted by a combination of absent pupillary light reflex, increased initial blood glucose concentration, and male sex. This rule had a specificity of 100%--children with favorable outcomes were always predicted to do well--and a sensitivity of 65%. Therefore the rule was overly optimistic for 35% of patients with unfavorable outcomes. CONCLUSION: Pediatric submersion victims can be assigned to high or low likelihoods of unfavorable outcome with the use of four variables: comatose state, lack of pupillary light reflex, sex, and initial blood glucose concentration. This prediction rule may be useful if it can be validated in another cohort.

Adolescent↗
PubMed1995

Comparison of erythrocyte antioxidant enzyme activities and embryologic level of neural tube defects.

Increased exposure to oxidant-derived free radicals or inadequate systems for antioxidant defense could alter cellular response at critical points in development. We measured 5 antioxidant enzymes, glutathione peroxidase (GSH-Px), glutathione reductase, glutathione-S-transferase, catalase and superoxide dismutase in erythrocytes and their plasma cofactor trace elements (Se, Zn, Cu) in 37 children with myelomeningocele and in 37 age-matched controls. We placed the patients into 3 groups according to motor level of the lesion at birth. We found significantly lower GSH-Px activities (p = 0.007) in children with myelomeningocele. For paired comparisons among the 3 patient groups and controls, there were significant differences (p < 0.05) between controls and both high (thoracic) and raid (lumbar) level embryologic lesions. The finding of antioxidant enzyme variations in our patients with myelomeningocele may indicate a role for abnormal oxidative metabolism in the development of this defect. The contribution of oxidative stress to human birth defects warrants investigation. We discuss potential relationships between oxidative stress and energy metabolism during primary neurulation.

Adolescent↗
PubMed1995

Erythrocyte antioxidant enzyme activities in children with myelomeningocele.

Erythrocyte free radical scavenging enzyme activities and their cofactor trace elements in plasma were assessed in 26 selected patients with myelomeningocele, both parents from 10 selected families, and 14 healthy adult controls. All index children except one were deficient in erythrocyte glutathione peroxidase (GSH-Px). Nine of 10 parent pairs had at least one parent with deficient GSH-Px activity. Children with myelomeningocele had significantly lower GSH-Px activities than their parents; the group of 10 parent pairs had significantly lower GSH-Px activities than the control group; and glutathione reductase activities were significantly lower in parents and children with myelomeningocele compared with controls. A deficiency in one or more antioxidant enzymes may increase the risk for neural tube defects.

Adolescent↗
PubMed1994

Video game-related seizures: a report on 10 patients and a review of the literature.

OBJECTIVE: To further describe the features, postulated pathophysiology, treatment, and outcome of seizures occurring while playing or watching video games (video game-related seizures (VGRS)). DESIGN: We evaluated retrospectively 10 patients with VGRS seen by us and reviewed 25 reported cases. RESULTS: The 35 patients ranged in age from 1 to 36 years (mean: 13.2); and 26 subjects (74%) were male. Eight individuals (29%) had prior infrequent nonfebrile seizures, 4 (11%) had febrile convulsions, and 2 (6%) had a family history of epilepsy. VGRS consisted of generalized tonic-clonic seizures in 22 of 35 individuals (63%); absences in 2 (6%); simple partial seizures in 6 (19%); complex partial seizures in 4 (11%); and other manifestations in 4. Neurologic examination and computed tomographic and magnetic resonance imaging scans were normal. Electroencephalograms demonstrated generalized or focal, interictal or ictal epileptic patterns in 11 of 21 patients (52%) and photoparoxysmal responses in 17 of 32 (53%). Eleven of 15 individuals (73%) treated with video game (VG) abstinence alone, 3 of 6 who received anticonvulsants but played VGs, and 7 of 12 treated with combined VG abstinence and anticonvulsants had no further seizures. CONCLUSIONS: We postulate that a special convulsive susceptibility of selected neurons in striate, peristriate, infratemporal, and posterior parietal cortices to particular visual stimuli plays a major role in VGRS. VG abstinence is the treatment of choice of VGRS. Anticonvulsant medication is suggested only for those individuals who continue to play VGs or suffer from seizures triggered by other, unavoidable visual stimuli, or from unprovoked attacks.

Adolescent↗
PubMed1993

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.

Two families with a point mutation in mtDNA associated with myoclonic epilepsy and ragged-red fiber disease showed pronounced clinical heterogeneity. The mothers of the two families had adult-onset myopathy with ragged-red fibers, partial deficiency of cytochrome c oxidase, and sensory neuropathy. Members of the first family had variable clinical features of progressive ataxic-myoclonic encephalomyopathy and of the other family, primarily adult-onset myopathy. There was a point mutation from A to G at nucleotide pair 8344 located in the tRNALys gene of the mtDNA of all patients tested, three in Family 1, and the mother of Family 2. This clinical heterogeneity may reflect the effects of varying proportions of mutant and wild-type mtDNA in the different organ systems in each individual.

Adenine↗
PubMed1993

Stroke and mixed connective tissue disease.

We describe the clinical presentation and course of two girls with cerebrovascular disease and mixed connective tissue disease. One developed rapid onset hemiparesis and aphasia secondary to left internal carotid artery occlusion. She experienced a complete recovery after treatment with prednisone and cyclophosphamide. The other patient was diagnosed as having mixed connective tissue disease but had acute neurologic deterioration. She died due to an intracerebral hemorrhage. Autopsy demonstrated small-vessel fibrinoid necrosis. Although cerebrovascular disease secondary to central nervous system vasculitis is a manifestation of systemic lupus erythematosus, this is the first description of cerebrovascular disease as a primary sign in mixed connective tissue disease. These cases demonstrate the range of cerebrovascular disease observed in children with mixed connective tissue disease.

Adolescent↗
PubMed1993

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

We looked for the A-->G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relationship between percentage of mutation in muscle and clinical severity. Our results confirm the high correlation between the A-->G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh's syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The absence of the mutation in four typical MERRF patients suggests that other mutations in the tRNA(Lys) gene, or elsewhere in the mitochondrial DNA, can produce the same phenotype.

Adult↗
PubMed1992

Electrodiagnosis reliability in the diagnosis of infant botulism.

Infant botulism is confirmed by isolation of Clostridium botulinum from stool culture or by toxin assay. Although electrodiagnosis has been described as a diagnostic tool in infant botulism, our 11-year review of toxin-confirmed cases suggests that electrodiagnosis is not a reliable tool. In the case report presented, results of electrodiagnosis were negative but enema effluent contained adequate concentrations of organism and toxin to confirm the diagnosis.

Botulinum Toxins↗