Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency

A 28-month-old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin-fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin-fixed brain indicated a slight increase in the percentage of GM1 ganglioside and a clear elevation in GM2 and GM3 gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosomal enzymes including arylsulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of the sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS-PAGE and immunoblotting with antisphingolipid activator protein-1 (SAP-1) rabbit antiserum, and no cross-reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP-1 deficiency. This patient was clinically more severe than the other patients described previously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.     

The effects of resistance training on aerobic and anaerobic power of young boys

A 4-wk interval-type training program incorporating omni-kinetic equipment and stationary cycling elicited an increase in the absolute and relative VO2max of an active group of young boys. The improvement in aerobic function was independent of the training protocols of high velocity-low resistance and low velocity-high resistance. However, the training programs failed to increase anaerobic function as measured by an "all-out" cycle test in which power output was calculated in watts and watts per kilogram for 0- to 15-s and 15- to 30-s work periods. Changes in aerobic and anaerobic functions were independent of physiological maturity as determined by serum testosterone level (ng X dl-1).     

A field test for the assessment of abdominal muscular endurance in professional ice hockey players

The purpose of this study was to develop a test protocol and produce normative data for measuring abdominal muscular endurance in professional ice hockey players. The protocol was developed using elite speed skaters and professional ice hockey players. The test involves the measurement of total number of curl-ups that can be completed at a prescribed rate of 25 repetitions per minute. The test protocol maximizes the isolation of the abdominal muscle group and the control of the movement. Normative data is presented from tests on 11 7 professional hockey players. This protocol provides discriminatory power and has high face validity in its application.J Orthop Sports Phys Ther 1984;6(1):30-33.     

Disruption of temporal discrimination by drugs of abuse: I. Unmasking of a color bias

Pigeons were trained to discriminate the length of a delay period (3s vs. 10s). Under control conditions, pigeons were able to discriminate between the two delay period lengths with a high degree of accuracy (>90%). When delays of 1, 3, 5, 7, 9 and 11s were randomly presented, the percentage of responses appropriate to the 10s delay increased as a function of increasing delay length. Dose-response curves determined for a series of drugs of abuse showed that pentobarbital, diazepam and phencyclidine displayed the greatest efficacy in disrupting the discrimination. The decrease in accuracy was a function of both a decrease in the ability of the pigeon to discriminate the passage of time, and the expression of a drug-induced red color bias. When the stimulus colors were changed, these drugs still decreased accuracy of the discrimination without any evidence of a color bias. Morphine disrupted the discrimination at doses which produced marked response suppression; there was no evidence of a drug-induced color bias. Delta(9)-THC failed to produce any significant effect on the discrimination. d-amphetamine and cocaine initially had no effect; however, upon subsequent determinations and when the stimulus colors were changed during the last part of the experiment, they did disrupt discrimination performance. These results show that drugs of abuse have differential effects on temporal discrimination, with some drugs affecting temporal discrimination at doses that do not suppress responding, some affecting the discrimination at doses that decrease response rates, and others that do not appear to affect temporal discrimination. Only sedative/hypnotic drugs disrupted temporal discrimination in part by producing a red-color bias.     

Thallium-201 gated single-photon emission tomography for the assessment of left ventricular ejection fraction and regional wall motion abnormalities in comparison with two-dimensional echocardiography

Simultaneous assessment of myocardial perfusion and function by gated single-photon emission tomography (GS) after a single tracer injection provides incremental information and is feasible with technetium-99m sestamibi. The present study validated the use of GS with thallium-201 for the assessment of left ventricular ejection fraction (LVEF) and regional wall motion by comparison with two-dimensional (2D) echocardiography (echo), which has not been done before. After injection of 111 MBq 201Tl at peak bicycle exercise (n = 55) or pharmacological stress (n = 17), GS was acquired 15 (post stress) and 120 min post injection (rest) on a double-head camera. An automatic algorithm (QGS) was used for processing. Echo (Acuson Sequoia C256) was performed immediately after rest GS. LVEFs assessed by GS and echo were correlated. The overall and segmental sensitivity and specificity of GS for the detection of regional wall motion abnormalities (WMAs) were calculated, echo serving as the gold standard. Perfusion abnormalities were scored. The success rate of the automatic algorithm was 100%, and visually assessed image quality was good to excellent in 88% of cases. Post-stress and rest LVEF as assessed by GS were highly correlated (r = 0.91). Good correlations were obtained between post-stress LVEF (GS) and rest LVEF (echo) and between rest LVEF (GS) and rest LVEF (echo) (r = 0.76 and 0.86 respectively). In patients with a reduced LVEF of less than 50% (n = 23), these correlations were even better (r = 0.84 and 0.89 respectively). Regional wall motion abnormalities (WMAs) were identified by GS with high sensitivity and specificity (88%-100% and 82%-98% respectively) and were directly related to the extent and severity of stress as well as of resting perfusion defects. It is concluded that GS with 201Tl is a feasible and reliable tool for the evaluation of patients with compromised left ventricular function in the context of coronary artery disease, and thus improves diagnosis and prognostic stratification. Regional WMAs were identified with high diagnostic accuracy and the method may prove helpful for the detection of myocardial viability.     

New therapeutic strategies to avoid intra- and extraperitoneal metastases during laparoscopy: results of a tumor model in the rat

BACKGROUND: Therapeutic strategies to prevent port site recurrences in laparoscopy surgery of malignancies have not been investigated until now. METHODS: The effects of taurolidine, heparin, and povidone iodine on the growth of rat and human colon adenocarcinoma as well as gallbladder carcinoma were investigated in vitro. Furthermore, cytokine release of growth-stimulating IL-1beta by peritoneal macrophages was measured after incubation with carbon dioxide and additional incubation with the different agents. In the third experiment, prevention of intra- and extraperitoneal metastases by intraperitoneal instillation of the different agents during laparoscopy was investigated in a colon carcinoma model in the rat. Tumor cells were administered intraperitoneally in 100 rats, and pneumoperitoneum (8 mm Hg) was established over 30 min with carbon dioxide. Rats received either tumor cells, cells + heparin, cells + povidone iodine, cells + taurolidine, or cells + taurolidine + heparin. RESULTS: In vitro, tumor cell growth decreased after incubation with taurolidine, taurolidine/heparin, and povidone iodine. Cytokine release was stimulated by incubation with carbon dioxide and could only be suppressed by incubation with taurolidine in vitro. In vivo, intraperitoneal tumor weight was lower in rats receiving heparin (251 +/- 153 mg) and povidone iodine (134 +/- 117 mg) compared to the control group (541 +/- 291 mg), but even less when taurolidine (79 +/- 82 mg) or taurolidine/heparin (18.3 +/- 30 mg) were instilled. CONCLUSION: Heparin slightly inhibits intraperitoneal tumor growth in vivo, while povidone iodine and taurolidine cause a significant decrease in tumor cell growth in vitro as well as intraperitoneal tumor growth in vivo. Cytokine release of peritoneal macrophages is only suppressed by taurolidine. Total tumor take and trocar metastases are only suppressed by taurolidine and taurolidine/heparin. Copyright Copyright 1999 S. Karger AG, Basel     

The effect of valproic acid on blood loss in patients with cerebral palsy

Valproic acid (VPA) is used in the treatment of seizure disorders often present in patients with cerebral palsy. The charts of 114 patients with cerebral palsy were reviewed to evaluate the effect of VPA on blood loss during spine surgery. Forty-one patients had seizure disorders. Of these, 18 were taking VPA as monotherapy (group III) and the remaining 23 patients were taking other antiseizure medications, including two taking VPA (group II). There was a significant increase in the number of patients with abnormal bleeding times and a significant difference (p < 0.001) in blood loss (ml/kg) in patients taking VPA as monotherapy (38.6 ml/kg vs. 30.0 ml/kg). There was also increased blood-product administration postoperatively in the VPA monotherapy patients. Physicians should be aware of this potential association between VPA use and increased blood loss. The routine laboratory tests of complete blood count, prothrombin time, and partial thromboplastin time will not adequately screen for the platelet-mediated effects of VPA.