Late-onset Wilsońs disease

A 58-year old male with a past history of psychiatric disorders was studied for a persistent serum transaminase increase. Low serum ceruloplasmin level (lower than 3 mg/dL), increased urinary copper excretion, and increased liver tissue copper concentration (1050 mcg/g dry weight) confirmed the diagnosis of Wilsońs disease. Slit lamp examination did not show Kayser-Fleischer rings. D-penicilamin therapy was followed by serum transaminase normalization. Similar late-onset cases of Wilsońs disease are exceptional, but confirm the clinical heterogeneity of the disease.     

Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria and nephrocalcinosis from early infancy. His 40-year-old father also had hypercalcemia and hypercalciuria. In both individuals serum values of intact parathyroid hormone (PTH) were repeatedly normal. Although these findings suggest a functional abnormality of the calcium-sensing receptor (CaR), no mutations in coding regions of the CaR gene could be demonstrated. Received: 2 January 2001 / Revised: 2 May 2001 / Accepted: 2 May 2001     

Gamma-knife radiosurgery for trigeminal neuralgia

Gamma knife was installed at the PD Hinduja National Hospital and Medical Research Centre, Mumbai, India, in January 1997. In the first year of gamma-knife radiosurgery to January 1998, we treated 110 patients, of whom six had medically refractory trigeminal neuralgia. Seven treatments were administered to this group of six patients (one had bilateral neuralgia). This report evaluates the effectiveness of radiosurgery treatment in these patients. The median age of the patients was 56 years and there were five males and one female. Following Leksell stereotactic frame fixation, a magnetic resonance imaging scan was done in all. The Leksell gamma plan was used for planning. A radiosurgery dose of 70–80 Gy was delivered to the trigeminal root entry zone, 2–4 mm anterior to the junction of the pons and trigeminal nerve with a single 4 mm collimator helmet. Complete pain relief was achieved in four patients. Two had partial relief. No patient developed any radiosurgery related morbidity during the follow-up period of 5–16 months. Radiosurgery seems to be an effective approach for medically or surgically refractory trigeminal neuralgia.     

Mediation of ionotropic glutamate receptors in domoic acid-induced striatal dopamine release in rats

Our objective was to characterize the mechanism of action of intrastriatal infusion of domoic acid on extracellular dopamine levels, using in vivo dialysis in conscious and freely moving rats. The local infusion of domoic acid (500 microM) caused an increase (567.9+/-142.5%, versus basal) in dopamine extracellular levels associated with a decrease in its metabolites: dihydroxyphenylacetate (DOPAC) and homovanillate (HVA) (47.3+/-4.4% and 33.8+/-4.2%, respectively, compared to basal). Infusion of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid/kainate (AMPA/kainate) receptor antagonist, 6,7-dinitroquinoxaline-2,3-dione (DNQX; 200 microM) reversed the effect of domoic acid infusion on striatal dopamine levels. However, the infusion of the selective non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist, dizocilpine (MK-801; 50 microM), did not change significantly the effect of domoic acid on dopamine extracellular levels. In conclusion, based on results with a microdialysis technique, we suggest that domoic acid may act through AMPA/kainate receptors in striatum.     

多发性大动脉炎的麻醉

０引言多发性大动脉炎尤其侵及双侧颈总动脉、双锁骨下动脉及无名动脉罕见,我院心脏外科及血管外科近日联合手术１例该病例,现简述其麻醉特点及特殊处理．１临床资料女性,３０岁,５０ｋｇ,头晕,头昏伴心悸,出汗,双上肢冰凉,麻木,查血压右上肢０／０ｋＰａ,右下...     

Inhibition by chlordiazepoxide of adenosine-stimulated glucagon secretion

The action of a water soluble benzodiazepine, chlordiazepoxide (CDZ) on the stimulatory effect of adenosine on glucagon secretion from the isolated pancreas of the rat perfused in presence of 2.8 mM glucose was studied. CDZ 10(-7) and 10(-6) M had no effect per se on glucagon secretion under our experimental conditions. In contrast, CDZ 10(-6) M (but not 10(-7) M) markedly reduced the peak of glucagon secretion provoked by adenosine, 2-chloroadenosine (1.65 C 10(-6) M) and by a stable analogue, 5'-N-ethylcarboxamidoadenosine or NECA (1.65 X 10(-8) M). This peripheral interaction between CDZ and adenosine seemed to be specific, since CDZ did not modify the peak of glucagon secretion induced by (-)isoproterenol (10(-8) M). Our results demonstrate an inhibitory effect of CDZ on adenosine-stimulated glucagon secretion.     

Pulmonary embolism after hip or knee replacement: postoperative changes on pulmonary scintigrams in asymptomatic patients

Serial pulmonary imaging has proved to be effective in the evaluation of patients undergoing total joint arthroplasty. A clinical dilemma arises in asymptomatic patients whose postoperative pulmonary images differ from the preoperative images. The authors prospectively evaluated 403 patients with serial imaging to determine the significance of changed postoperative images in asymptomatic patients undergoing total hip or knee arthroplasty. Twenty-two (5.5%) patients had significant changes on postoperative images. Seventeen were asymptomatic; all but one underwent pulmonary angiography. Documented pulmonary emboli were demonstrated in 100% of patients whose postoperative images changed to indicate a high probability of pulmonary embolism, 71% whose images changed to a moderate probability, and 0% whose images changed to indeterminate probability. Overall, pulmonary emboli occurred in 76% of all asymptomatic patients with significantly change postoperative images. Asymptomatic pulmonary embolism is a significant occurrence after total hip or knee repair, and a changed lung scan with appropriate clinical evaluation is an accurate indicator of pulmonary emboli in asymptomatic postarthroplasty patients.