Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials

The pteridine cofactor of tyrosine and tryptophan hydroxylases, tetrahydrobiopterin (BH4), is concentrated in the striatum and other sites of brain monoamine synthesis and is a regulatory factor in the rate-limiting step of catecholamine synthesis. CSF content was decreased in eight patients with dystonic disorders (mean, 13.0 +/- 0.8 pmol/ml CSF compared with 20.6 +/- 1.4 in age-matched normals). We gave several trials of synthetic BH4 intravenously to 10 dystonic patients with benefit for 2 subjects with diurnally fluctuating dystonia, 1 with hemidystonia and parkinsonism, and 1 with generalized torsion dystonia. The findings of biopterin abnormality and the observed clinical improvements may point to a role for the cofactor in the pathogenesis and, possibly, the treatment of some forms of primary dystonia.     

Angiographic ablation of parathyroid adenomas: lessons from a 10-year experience

Angiographic ablation of parathyroid adenomas with ionic contrast material was performed in 24 patients with persistent hyperparathyroidism who had undergone at least one prior unsuccessful surgical resection; 23 had mediastinal adenomas. The success rate was 83% at 1 month after ablation and 71% at both 5 and 9 years. Ablation was successful in 85% of the patients in whom the catheter could be wedged into the artery feeding the adenoma. Long-term success was achieved in 89% of the patients in whom contrast enhancement persisted in the adenoma on computed tomographic scans obtained 24 hours later. Acute complications were seen only in patients with glands supplied by the inferior or superior thyroid arteries. Long-term complications were limited to permanent hypocalcemia, present in 8% of patients. Even if unsuccessful for ablation, the procedure may provide localization and does not preclude surgical resection. It is recommended for most patients with persistent hyperparathyroidism and mediastinal adenomas, especially adenomas supplied by the internal thoracic artery.     

CONTENT AND COMPOSITION OF URINARY GLYCOSAMINOGLYCANS IN THE PATIENTS WITH MYOCLONUS EPILEPSY WITH AND WITHOUT LAFORA BODIES

Content, composition and molecular weight distribution of the urinary glycosaminoglycans (GAG) were determined in five patients with progressive myoclonus epilepsy (PME). In one patient (Family B) this syndrome was associated with cerebral Lafora bodies and in four siblings of Family A, no Lafora bodies were present in brain biopsy. Only one of the five patients had a moderate increase of urinary GAG excretion as expressed by 24-h output or creatinine. The heparan sulfate component of the GAG was moderately increased in two other patients. The molecular weight distribution of the urinary GAG was normal. The results do not support the contention that urinary GAG excretion is abnormal in PME. Among nine lysosomal enzymes in leucocytes, only the activity of alpha-mannosidase was increased 3-fold in the four siblings.     

The LeMoyne-Owen College��UTCHS Cooperative Educational Program: A Model for Minority Recruitment

A program of cooperative education between LeMoyne-Owen College and the University of Tennessee Center for the Health Sciences (UTCHS) was designed to attract students from the undergraduate institution to the various health professional schools at UTCHS. The program was initiated by a black faculty member at UTCHS. It involved a faculty exchange between the two institutions and the implementation of several changes in the pre-health science curriculum at the undergraduate institution. Other components of the program included: the gift of equipment and supplies to LeMoyne-Owen College by UTCHS; counseling of LeMoyne-Owen students by UTCHS faculty members; the generation of private funds by the faculty and staff at UTCHS for the support of LeMoyne-Owen students participating in the cooperative education program; and broad exposure of LeMoyne-Owen students to the laboratories and clinical facilities at UTCHS.     

Gilles de la Tourette syndrome: etiologic considerations

The prevalence of Gilles de la Tourette syndrome is 28/100,000 in subjects of among the school age population. Familial cases have been described, although it is not an hereditary disease. This indicates that non genetic factors are critical. The fact that Gilles de la Tourette syndrome is frequently associated with migraine, sleep disturbances, attentional or compulsive deficits, does not orient towards a specific cause. An environmental factor has never been demonstrated. Epidemiological studies should be developed in the future, and more systematic anatomical and biochemical researches should be undertaken.     

Serial echo-Doppler measurements of human fetal abdominal aortic blood flow

An echo-Doppler duplex scanner (DS) was used to make serial noninvasive measurements of human fetal abdominal aortic blood flow (Q). In 18 uncomplicated pregnancies (16 weeks to term), Doppler shifted frequency spectral waveforms (delta f), Doppler incident angles (theta), and peak systolic lumen diameters (D) were measured. Using the measured values of delta f and theta, the temporal average blood velocity (V) in the cardiac cycle was calculated from the Doppler equation. Values of Q were calculated using the equation: Q = pi X (D2/2) X V X HR, where HR is the heart rate. Gestational age (GA) and fetal weight (FW) were estimated from biparietal and transverse abdominal diameters. Each fetus was studied three to eight times at 2- to 4-week intervals. Results showed that Q increased nonlinearly with GA. Normalized to estimated FW, values of Q/kg did not vary significantly with estimated GA and gave an overall mean value (+/- standard deviation) during gestation of 184 +/- 35 ml/kg/min.