Tonic-clonic seizures in patients taking sildenafil.
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Epilepsy, Tonic-Clonic↗
Biomedical subjects
Menachem Sadeh
Publications and source records attributed to Menachem Sadeh.
Diagnosing brain death using the transcranial Doppler with a transorbital approach.
BACKGROUND: Transcranial Doppler is a sensitive instrument for the diagnosis of brain death. The guidelines for the determination of brain death include the demonstration of specific blood flow patterns in the anterior and posterior circulation systems. A limitation of this method is the frequent false finding of no flow, especially when using the transtemporal approach in older women. OBJECTIVE: To evaluate the efficacy of the transorbital approach in the diagnosis of brain death using transcranial Doppler. METHODS: A prospective controlled, diagnostic test study was performed. Transorbital, transtemporal, and transforaminal approaches were used. Fifty-seven patients (29 men and 28 women; mean +/- SD age, 68.2 +/- 12.1 years) with clinically determined brain death were examined. RESULTS: In 45 patients, oscillatory flow or systolic spikes were found in all approaches. In 4 patients, no flow was detected. In 6 patients, oscillatory flow or systolic spikes were found in 2 approaches, including the transorbital one. In 2 patients, a positive finding was demonstrated only using the transorbital approach. Using the transorbital approach, the percentage of positive findings with definitive diagnoses of brain death rose from 79% to 88%. CONCLUSION: The transorbital approach is a useful addition for the diagnosis of brain death, using the transcranial Doppler technique.
Adult↗
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both father and daughter were affected, an example of pseudo-dominant transmission. The daughter was a compound heterozygote for a new nonsense mutation (R207X) and a new missense mutation (R602Q) while her father was homozygous for the R207X mutation. The mother carried only the R602Q mutation and was an asymptomatic heterozygote. In the second family, the only affected member was homozygous for the R207X mutation. This first molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group.
Adult↗
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes.
Abnormalities, Multiple↗
The significance of prestroke aspirin dosage in fatal outcome of acute stroke.
BACKGROUND: Aspirin is an effective and generally accepted treatment drug during the acute stage of ischemic brain infarction. The association between the pretreatment aspirin dosage and fatal outcome among these treated patient groups has not been analyzed previously. OBJECTIVE: The aim of the study was to evaluate 14- and 30-day poststroke survival in patients treated with 325 mg immediately on admission to the hospital for prestroke antiaggregation/anticoagulation treatment. METHODS: This prospective study was conducted in a government tertiary care facility. The medical records of all 1245 patients admitted to the hospital for stroke from 1997 to 2002 were reviewed. The association between demographic parameters, stroke risk factors, stroke subtype, prestroke antiaggregation/anticoagulation treatment, and risk of fatal poststroke outcome, 14 days and 30 days after the event, was analyzed using Cox survival analyses. RESULTS: During the 14-day poststroke period, 320 patients (25%) died. By day 30 poststroke, 386 patients (31%) had died. Older age, female gender, chronic heart disease, and cardiac arrhythmias were associated with increased risk of increased fatal outcome. Mortality was higher in patients with stroke caused by cardioembolism (P < 0.0001) and was significantly lower in patients with small-vessel occlusion (P < 0.0001). Prestroke medium-dose aspirin treatment was associated with a relative reduction in 30-day poststroke period mortality (P < 0.0001). Conversely, prestroke low-dose aspirin treatment was associated with increased mortality (P < 0.0001). CONCLUSION: Prestroke medium-dose aspirin treatment was associated with reduced 30-day poststroke mortality, whereas low-dose prestroke aspirin therapy was associated with increased 30-day poststroke mortality.
Aged↗