PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.

Progressive myoclonic ataxia, also referred to as Ramsay Hunt syndrome, is characterized by a combination of myoclonus and cerebellar ataxia, infrequently accompanied by tonic-clonic seizures. Its differential diagnosis overlaps with progressive myoclonic epilepsy, a syndrome with myoclonus, tonic-clonic seizures, progressive ataxia and dementia. In patients with progressive myoclonic epilepsy, specific diseases can frequently be recognized, but the diagnostic yield in progressive myoclonic ataxia is much lower. We describe a patient who presented with multifocal myoclonus in his thirties and who later developed cerebellar ataxia and focal dystonia. His father was similarly affected. Genetic studies revealed a mutation in the protein kinase C gamma (PRKCG) gene, known to cause spinocerebellar ataxia type 14 (SCA-14). This case illustrates that both myoclonus and dystonia are part of the clinical spectrum in SCA-14 and that myoclonus can even be the presenting symptom. We suggest that SCA-14 should be considered in the differential diagnosis of progressive myoclonic ataxia.     

胃癌组织中核基质蛋白的变化

目的：研究胃癌组织核基质蛋白的改变。方法：应用SDS－PAGE技术及Geneools定量分析软件，对22例胃癌组织及正常组织的核心基质蛋白进行了研究，结果：胃癌组织与正常组织比较，Mr为30000，28000的核基质蛋白表达量明显减少（P＜0．05），不同分化类型及不同临床分期胃癌组织间比较，此种核基质蛋白表达量差异无统计学意义（P＞0．05），结论：胃癌组织中核基质蛋白的改变可能在肿瘤的早期已经发生，是胃癌发生的早期分子事件。     

Radiofrequency capacitive heating of deep-seated tumours using pre-cooling of the subcutaneous tissues: results on thermometry in Dutch patients.

The capacity of a radiofrequency, 13.56 MHz, capacitive hyperthermia system using extensive pre-cooling of the subcutaneous tissue to induce locoregional deep heating has been investigated in 11 patients. Tumour location was presacral in nine--and eccentric towards the lateral side of the pelvis in two patients. For thermometry multiple catheters (mean 2.7) were inserted into the treatment volume. The mean numbers of temperature measuring points per treatment were 9.4 in tumour, 5.5 in muscle and 7.2 in subcutaneous fat. RF energy was applied after 30 min of cooling through two flexible boli perfused with saline water at 5-10 degrees C. Patient tolerance to pre-cooling was very good and after some initial discomfort the patient became rapidly accustomed to the cold water boli. For some patients better temperatures were achieved when the conventional anterior-posterior applicator set-up was replaced by a set-up with an applicator on each lateral side of the patient. As patients can tolerate temperatures within the fat tissue as high as 45.5 degrees C without complaining it appears important to monitor the temperature at the transition of fat to muscle tissue to prevent subcutaneous burns. The study shows that pre-cooling cannot avoid preferential heating at the interface from fat to muscle tissue. In this patient group the quality of the hyperthermia treatment appeared to be rather poor: 60% of the measured tumour temperatures were below 40 degrees D.     

The effects of maternal hyperoxia on fetal breathing movements, body movements and heart rate variation in growth retarded fetuses.

In hypoxemic intrauterine growth-retarded fetuses (IUGR) there is a reduction in the incidence of fetal movements and in fetal heart rate variation. A causal relationship with the impairment of fetal oxygenation has been suggested. In 16 IUGR fetuses and in 13 normally grown fetuses maternal hyperoxygenation was applied for 40 min to increase fetal PO2 levels. All IUGR fetuses had abnormal Doppler blood velocity waveforms of the umbilical artery suggesting an impaired uteroplacental exchange. The effect of hyperoxygenation on fetal breathing and body movements and on fetal heart rate was evaluated. In the IUGR fetuses there was a significant increase in fetal breathing and body movements and in heart rate variation during hyperoxygenation as compared to the preceding control period of 40 min. No significant changes in fetal breathing and body movements were found in the normally grown control fetuses. A surprising observation was the increase of the number of heart rate decelerations after discontinuation of the maternal hyperoxygenation. It is concluded that in IUGR fetuses the increase in fetal heart rate variation and the increase in the incidence of breathing and body movements during maternal hyperoxygenation substantiates the relationship between these variables and the oxygenation status of the fetus.     

Measuring quality of life in patients with myocardial infarction or stroke: a feasibility study of four questionnaires in The Netherlands.

OBJECTIVE--To test in patients with a history of myocardial infarction or stroke the feasibility of four quality of life measurements--the Nottingham health profile (NHP), the heart patients psychological questionnaire (HPPQ), the sickness impact profile (SIP), and the hospital anxiety and depression scale (HAD). DESIGN--Subjects were tested and retested after an interval of 14 days: questionnaires were self assessed. SUBJECTS--Participants were randomly selected from the Rotterdam stroke data bank (stroke patients; n = 16, mean (SD) age 66.0 (11.0) years and from the population based Rotterdam study (myocardial infarction; n = 20, mean (SD) age 72.7 (7.9) years, controls; n = 17, mean (SD) age 72.8 (7.3) years. MEASUREMENTS AND MAIN RESULTS--Mean (SD) administration times for the NHP, HPPQ, SIP, and HAD were 7.9 (3.5), 10.5 (4.3), 21.0 (9.8), and 5.5 (2.8) minutes respectively. On average, the test-retest reliability was good, with Spearman correlations ranging from 0.31 to 0.95. In spite of the limited size of the study, all instruments were able to show differences between the study groups. For instance, median SIP total scores for myocardial infarction and stroke patients were 12.4 (interquartile range 7.0-19.1) and 11.4 (5.9-15.4) respectively, compared with 7.7 (3.7-11.3) in the control group (p values of 0.04 and 0.14 respectively). CONCLUSIONS--This study suggests that use of the four instruments tested may be feasible and reliable for assessing aspects of quality of life in patients with a history of a myocardial infarction or stroke.     

Predictive value of two-dimensional echocardiographic and hemodynamic measurements on admission with acute myocardial infarction

To identify high-risk patients with acute myocardial infarction, we compared admission values of two-dimensional echocardiography and hemodynamic monitoring. Left ventricular wall motion score (WMS), left ventricular stroke work index (LVSWI), and pulmonary capillary pressure (PCP) were obtained in 77 patients without clinical signs of heart failure. Progression into Killip grade 3 or 4 was found in 16 of 77 patients (21%) within 32 +/- 6 hours (mean +/- 1 standard deviation) after admission. Mean WMS, LVSWI, and PCP in those patients who developed severe pump failure were significantly different from those who did not: 13.4 +/- 4.9 versus 7.3 +/- 4, 30 +/- 4 versus 46 +/- 11 gm/m2, and 21 +/- 8 versus 12 +/- 6 mm Hg, respectively. Sensitivity of WMS of greater than 7 and LVSWI of less than 35 gm/m2 in predicting Killip grade 3 or 4 was 88% and 94%, specificity was 57% and 87%, positive predictive value was 35% and 65%, and negative predictive value was 95% and 98%. Sensitivity of PCP was low (50%). Early identification of patients developing myocardial rupture or reinfarction was limited by both methods. We conclude that echocardiographic examination on admission in patients with acute myocardial infarction provides an alternative approach for early identification of low-risk patients.     

Somatostatin receptor scintigraphy with indium-111-DTPA-D-Phe-1-octreotide in man: metabolism, dosimetry and comparison with iodine-123-Tyr-3-octreotide.

Scintigraphy with 123I-Tyr-3-octreotide has several major drawbacks as regards its metabolic behavior, its cumbersome preparation and the short physical half-life of the radionuclide. The use of another radiolabeled analog of somatostatin, 111In-DTPA-D-Phe-1-octreotide, has consequently been proposed. DTPA-D-Phe-1-octreotide can be radiolabeled with 111In in an easy single-step procedure. DTPA-D-Phe-1-octreotide is cleared predominantly via the kidneys. Fecal excretion of radioactivity amounts to only a few percent of the administered radioactivity. For the radiation dose to normal tissues, the most important organs are the kidneys, the spleen, the urinary bladder, the liver and the remainder of the body. The calculated effective dose equivalent is 0.08 mSv/MBq. Optimal 111In-DTPA-D-Phe-1-octreotide scintigraphic imaging of various somatostatin receptor-positive tumors was obtained 24 hr after injection. In the six patients studied, tumor localization with 123I-Tyr-3-octreotide and with 111In-DTPA-D-Phe-1-octreotide were found to be similar. However, the normal pituitary is more frequently visualized with the latter radiopharmaceutical. In conclusion, 111In-DTPA-D-Phe-1-octreotide appears to be a sensitive somatostatin receptor-positive tissue-seeking radiopharmaceutical with some remarkable advantages: easy preparation, general availability, appropriate half-life and absence of major interference in the upper abdominal region, because of its renal clearance. Therefore, 111In-DTPA-D-Phe-1-octreotide may be suitable for use in SPECT of the abdomen, which is important in the localization of small endocrine gastroenteropancreatic tumors.     

Relationship between monitoring parameters and perinatal outcome in severe, early intrauterine growth restriction.

OBJECTIVE: To investigate whether pathological changes in the umbilical artery (UA), ductus venosus (DV) and short-term fetal heart variation are related to perinatal outcome in severe, early intrauterine growth restriction (IUGR). METHODS: This multicenter, prospective, longitudinal, observational study was carried out in the Departments of Fetal Medicine and Obstetrics in Hamburg, Amsterdam, Utrecht and London. In 70 singleton pregnancies with IUGR fetuses, delivered at 26-33 weeks of gestation because of antepartum fetal distress, short-term variation (STV) of fetal heart rate, pulsatility index of the fetal UA (UA PI) and DV pulsatility index for veins (DV PIV) were assessed at least weekly. The final measurement was performed within 24 h of delivery. Standard cut-off levels (2 SD or 3 SD, absent flow or reversed flow) were used and new cut-off levels were calculated by means of receiver-operating characteristics analysis. Adverse outcome was defined as perinatal death, cerebral hemorrhage (> or = Grade II) or bronchopulmonary dysplasia before discharge. The predictive value for adverse outcome was calculated for different cut-off levels of the monitoring parameters, adjusted for gestational age (GA), by multivariate logistic regression analysis. Data were analyzed separately for three different time blocks, namely 8-14, 2-7 and 0-1 days before delivery. RESULTS: Adverse perinatal outcome occurred in 18/70 (26%) infants. During the last 24 h before delivery DV PIV and UA PI were significantly higher and STV lower in the adverse outcome group, while 2-7 days before delivery only DV PIV was significantly higher. Adverse perinatal outcome could be predicted at 0-1 days before delivery by DV PIV at a cut-off of three multiples of the SD (odds ratio (OR) 11.3; 95% CI 2.3-57) and GA (OR 0.4; 95% CI 0.3-0.8), at 2-7 days by DV PIV at 2 SD (OR 3.0; 95% CI 0.8-12) and GA (OR 0.5; 95% CI 0.3-0.8) and at 8-14 days by DV PIV at 2 SD (OR 3.9; 95% CI 0.8-20) and GA (OR 0.5; 95% CI 0.3-0.8). Other parameters did not contribute to the multivariate model. CONCLUSIONS: DV PIV measurement is the best predictor of perinatal outcome. This measurement may be useful in timing the delivery of early IUGR fetuses and in improving perinatal outcome, even when delivery may be indicated at an earlier GA. However, as GA was also an important factor influencing outcome, with poorer outcome at earlier gestation at delivery, this hypothesis needs to be tested in a multicenter, prospective, randomized trial.     

Microvascular function in viable myocardium after chronic infarction does not influence fractional flow reserve measurements.

Fractional flow reserve (FFR) is an index of coronary stenosis severity. FFR is the ratio of hyperemic myocardial flow in the stenotic area to maximal flow in that same territory without stenosis and can be measured with a pressure wire. In patients with prior infarction, measuring FFR in infarct-related arteries may be different for 2 reasons: a smaller mass of viable myocardium depending on the stenotic infarct-related artery and greater microvascular resistance in the infarcted area than in the reference area. When microvascular resistance does not differ between the infarcted and the reference areas, FFR should equal relative flow reserve (RFR). RFR is the ratio of myocardial blood flow in the stenotic area to blood flow in a normally perfused reference area, at maximal hyperemia. H(2)(15)O PET measures myocardial flow within only the viable areas of an infarct and can be used to measure RFR. The present study assessed in patients with chronic myocardial infarction whether microvascular resistance in the infarct is different from that in the reference area. Therefore, the correlation between FFR and RFR using H(2)(15)O PET was studied. METHODS: In the catheterization laboratory, FFR was measured in the infarct-related artery and a reference coronary artery. The H(2)(15)O PET study and FFR measurements were performed on the same day in 22 patients. RESULTS: In 27 patients, the mean interval between the PET study and infarction was 3.3 y. Most patients had an anterior infarction, and the mean ejection fraction was 44%. The mean FFR and RFR values were 0.75 +/- 0.16 and 0.74 +/- 0.18, respectively. A significant correlation (r = 0.81; P < 0.0001) was found between FFR and RFR. The linear regression line was close to the line of identity. CONCLUSION: In patients with chronic myocardial infarction and a reduced ejection fraction, a good correlation was found between FFR measurements in the infarct-related artery and RFR. Because the linear regression line between FFR and RFR was close to the line of identity, one can conclude that microvascular resistance in the viable myocardium does not differ from that in the reference area.     

A preliminary study of PDA-based dietary self-monitoring in hemodialysis patients

OBJECTIVE: The purpose of this study was to pilot test an intervention to enhance the adherence of study participants to the hemodialysis dietary regimen. DESIGN: A single case study design was used to examine the potential effectiveness of the intervention over a 4-month period of time. SETTING: A dialysis center in southwestern Pennsylvania. PATIENTS: Of the five individuals entered into the study, one was male and four were female, four were black, and one was white. Participants were 63 to 70 years of age, and had been receiving dialysis for a median of 36 months (range, 18 to 84 months). INTERVENTION: The intervention included counseling to enhance self-efficacy, by a renal dietitian, paired with personal digital assistant-based dietary self-monitoring. Participants met twice per week with interventionists during the first 6 weeks, weekly during the second 6-week period, and biweekly in the final 4-week period. MAIN OUTCOME MEASURES: Monthly laboratory data regarding serum albumin, potassium, and phosphorus levels; Kt/V; and data on average monthly interdialytic weight gain were abstracted from the participants' medical records. C-reactive protein level was determined at baseline and at 4 months. RESULTS: Four of five study participants had an increase in serum albumin level from baseline to their final measurement, and one participant maintained a stable albumin level. Four of five participants also experienced a small increase in serum phosphorus level. Mixed results were obtained with regard to serum potassium and average monthly interdialytic weight gain. CONCLUSIONS: Because of the small sample and single case study design, caution must be used in drawing firm conclusions from this study. Data suggest that the intervention may result in improved dietary intake and improved serum albumin levels. With increased dietary intake, serum phosphorus levels may increase. Additional research is needed to determine the potential efficacy and cost-effectiveness of this intervention for improving dietary adherence.