Discordant repeat size and phenotype in Kennedy syndrome

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.     

Are port films reliable for in vivo exit dose measurements?

The possibility of using conventional port films as an in vivo method for obtaining relative exit dose distribution in patients is evaluated. Kodak "Verification" films in "Localization" cassettes are positioned in the usual clinical conditions behind an homogeneous polystyrene phantom as well as behind a phantom containing air, wood and aluminium inhomogeneities. Taking beam divergency into account the densitometric profiles are projected back to the exit side of the phantom. They are compared to the profiles obtained with an ionization chamber used under full backscatter conditions. The agreement between the off-axis ratios determined with either method are mostly better than 2% and never exceed 5%. These phantom measurements are completed by a comparison between off-axis ratios determined on a port film for a head and neck patient and those obtained by diode dosimetry applied on the patient at the exit side of the beam. A similar agreement as between film and ion chamber on the phantoms is obtained. These encouraging results illustrate the possibilities of using conventional port films for in vivo dosimetry.     

Ascending versus descending aortic balloon pumping: organ and myocardial perfusion during ischemia

BACKGROUND: The ICS-Supracor (Abiomed, Danvers, MA) is a preshaped ascending aorta balloon pump. We compared the effects of this catheter with the classical descending intraaortic balloon pump (IABP). The study focused on hemodynamic effects, myocardial blood flow in normal and ischemic regions, cerebral perfusion, and peripheral organ perfusion. METHODS: We placed a stenosis on the lateral branch of the coronary artery to reduce flow 50% (sheep). Measurements included hemodynamic changes, myocardial blood flow, and organ flow (colored microspheres) at baseline, after stenosis, during IABP support, and during ICS support. RESULTS: Counterpulsation with the ICS led to a significantly higher peak diastolic aortic augmentation than with the IABP (IABP, 99 +/- 14 mm Hg; ICS, 140 +/- 29 mm Hg; p = 0.003). There was no significant change in cerebral perfusion or peripheral organ perfusion. Myocardial blood perfusion was significantly increased by the IABP as well as the ICS. This effect was seen in ischemic and nonischemic regions (subendocardial and subepicardial). The ICS improved myocardial blood flow significantly more than the IABP (IABP, 0.65 +/- 0.1 mL/min/g; ICS, 0.94 +/- 0.06 mL/min/g; p = 0.0005). CONCLUSIONS: The ICS increases myocardial blood flow in ischemic regions significantly more than the IABP, without impairment of cerebral flow. Assessment of vascular complications, peripherally and in the ascending aorta, has to await results of clinical trials.     

Imaging spectrum in disseminated histoplasmosis: Case report and brief review

The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal.     

Ischemic preconditioning reduces unloaded myocardial oxygen consumption in an in-vivo sheep model

OBJECTIVE: Ischemic preconditioning (IP) describes the adaptation of the myocardium to ischemic stress preceded by short periods of ischemia and reperfusion. However, its cardioprotective mechanisms are not completely understood. We assessed the effect of IP on ventricular energetics in an in-vivo sheep model. METHODS: IP was performed in six sheep by three 5 min aortic cross-clamping periods interspersed with 5 min of reperfusion during cardiopulmonary bypass and with six sheep as time-matched controls. Global myocardial ischemia was subsequently achieved by 30 min aortic cross-clamping with left ventricular unloading during normothermic cardiopulmonary bypass. Weaning from cardiopulmonary bypass was performed 40 min after reperfusion. At baseline, after treatment (IP or time-matched cardiopulmonary bypass), and up to 100 min after reperfusion, left ventricular pressure-volume loops were measured using a conductance catheter during a right heart bypass preparation. Contractility, diastolic function, and ventriculo-arterial coupling were evaluated. Ventricular energetics [the relation between myocardial oxygen consumption (MVO(2)) and systolic pressure-volume area (PVA)] was also evaluated. A right heart bypass was instituted to control the preload and to decompress the right ventricle completely, thereby eliminating parallel conductance variation and minimizing the contribution of the right ventricle to MVO(2). RESULTS: IP reduced unloaded MVO(2) (PVA-independent MVO(2)). Contractility, diastolic function, and ventriculo-arterial coupling in the IP group were better preserved than in the control group after ischemia-reperfusion. CONCLUSIONS: IP reduces unloaded MVO(2), and preserves contractility, diastolic function, and ventriculo-arterial coupling after 30 min global myocardial ischemia in an in-vivo sheep model.     

Pediatric heart support with a newly developed catheter based pulsatile 12F rotary blood pump: an animal study

Background: To evaluate mechanical and hematological compatibility of a pediatric, temporary left heart support system in a lamb model as a less traumatic alternative to the widely used ECMO. Methods: A small, pulsatile rotary blood pump (target flow 0.5 l/m at 80 mmHg pressure head at 120 pulses per min) was inserted in six lambs (15.1 ± 1 kg) via a left thoracotomy, through a purse string in the arcus aortae. With fluoroscopy the tip (=inflow) of the catheter was positioned in the outflow tract of the left ventricle. The outflow part was positioned immediately above the aortic valve. Animals were extubated at the end of the procedure. Mechanical and hematological parameters were followed for 14 days. Results: Five animals survived a 2-week follow-up. One animal died because of empyema on day 6. Flow maintained stable (0.8 ± 0.2 l/m) in all animals during the evaluation period. Free hemoglobin as a parameter of hemolysis and hematocrit remained also stable. Necropsy revealed minimal fibrous reaction on one aortic valve leaflet in one animal and small hematoma formation in three. All animals showed mild signs of endothelial damage on the aortic arch at the level of the motor housing. One animal showed signs of old kidney infarction suggesting possible embolization during placement. Conclusion: This newly developed, catheter based, pediatric heart support system generates a stable flow for 14 days without compromising hematological stability and with acceptable tissue damage due to positioning of the catheter.     

Correlation between temperature and dose rate dependence of semiconductor response; influence of accumulated dose

The temperature and dose per pulse dependence of 20 Therados semiconductor detectors have been investigated. The rise in relative response observed when increasing temperature from 20 degree C to 32 degree C ranges between 1.00 and 1.07, that observed when increasing dose per pulse from 9.8 x 10(-6) to 6.5 x 10(-4) Gy/pulse between 1.01 and 1.11. The diodes with the most pronounced dose per pulse dependence have also the most pronounced temperature dependence. Accumulated dose has been found to increase both temperature and dose per pulse dependence until a level off dose (less than 4 kGy for one of the diodes) is reached. However, no level off has been observed concerning sensitivity decrease with dose: after an accumulated dose of 29 kGy a sensitivity decrease of 65% was still observed when giving another 25 kGy to one of the diodes.     

Purification of Hageman factor (factor XII) on columns of popcorn- agarose

Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier.     

The influence of stenting on the behavior of amino-oleic acid-treated, glutaraldehyde-fixed porcine aortic valves in a sheep model

BACKGROUND AND AIM OF THE STUDY: The durability of freehand-sewn aortic valve homografts used for valve replacement in humans is greater than for stented aortic homografts. In analogy with this, it is expected that the durability of a stentless heterograft will be superior to that of its stented counterpart. Our objective was to investigate the influence of stenting on amino-oleic acid (AOA)-treated, glutaraldehyde-fixed porcine aortic valve bioprostheses. METHODS: Twelve young sheep underwent implantation of porcine aortic valves in the pulmonary artery: six porcine aortic stentless valves (Freestyle) and six porcine aortic stented valves (Mosaic). In each series, three valves were explanted after three months, and three after six months. Valves were analyzed by gross inspection, radiography, histology, and transmission electron microscopy. Quantitative determination of calcium content was made with atomic absorption spectrometry. RESULTS: The porcine aortic stentless valve showed extensive calcification of its aortic wall portion, but had perfectly functioning, pliable cusps without calcification up to six months. The cusps of porcine aortic stented valves were also pliable and functioning without calcification up to six months. Only minimal calcification was seen in the aortic wall of the stented valves. At six months after implantation the cusps of stentless valves contained significantly less calcium than those of stented valves (2.7+/-1.2 microg/mg and 7.9+/-2.3 microg/mg, respectively; p = 0.011). However, the aortic wall from stentless valves contained significantly more calcium than that of stented valves (three-month explants: 39.2+/-14.4 versus 7.2+/-2.8 microg/mg; p <0.05; six-month explants: 49.3+/-14.0 versus 14.1+/-5.9 microg/mg; p <0.05). CONCLUSION: These data suggest that stenting does influence cuspal calcification of AOA-treated, glutaraldehyde-fixed porcine aortic valves.