Role of five platelet membrane glycoprotein polymorphisms in branch retinal vein occlusion.

To determine whether polymorphisms of platelet surface glycoprotein associated with arterial thrombosis are risk factors for branch retinal vein occlusion. A case-control study in which 69 patients with branch retinal vein occlusion and 147 controls who attended the eye clinic for nonvascular complications participated. DNA was extracted from whole blood and analyzed for genotyping of platelet glycoprotein polymorphisms by polymerase chain reactions and specific restricted enzymes. No relationship was found between the four platelet glycoprotein polymorphisms i.e. GPIa C807T, VNTR and Kozak of glycoprotein Ibalpha, the HPA-1 of glycoprotein IIIa and the occurrence of branch retinal vein occlusion. The HPA-2 polymorphism was found in 18 out 60 (30%) patients with branch retinal vein occlusion in comparison with 27 out 142 (19%) of controls, with an estimated odds ratio of 1.8 (95% confidence interval, 0.91-3.65). The four platelet glycoprotein polymorphisms are not risk factors for branch retinal vein occlusion and therefore it seems unnecessary to screen those patients for it. A larger study is required, however, to determine whether HPA-2 is a novel risk factor for branch retinal vein occlusion.     

Effect of short-term erythropoietin therapy in anemic premature infants.

OBJECTIVE: To determine the effectiveness of a 10-day subcutaneous erythropoietin (rHuEpo) course of 300 units per kg per dose plus oral iron compared to oral iron alone in anemic infants during their convalescent phase of illness. STUDY DESIGN: Prospective, randomized trial performed at a 40-bed, teaching, referral, level III, neonatal intensive care unit. Infants with a gestational age at birth of less than 32 weeks, hematocrit of less than or equal to 28% with a corrected reticulocyte count of less than or equal to 5%, postconceptual age of less than 48 weeks or 5 months chronological age, and a diagnosis of anemia of prematurity were considered for inclusion. Major outcome parameters included hematocrit, corrected reticulocyte count and red cell transfusion requirements. RESULTS: A total of 60 infants were enrolled (n=30 per group). Infants randomized to rHuEpo had a significantly higher post-treatment hematocrit and corrected reticulocyte count than infants in the iron only group (p<0.001). There was a trend towards fewer red cell requirements in the rHuEpo group. CONCLUSIONS: The rHuEpo regimen studied here was associated with an acute improvement in hematocrit and corrected reticulocyte counts. This study did not demonstrate a statistically significant decrease in transfusion therapy, in part related to increased subsequent use of rHuEpo in the control group. Taken together, these data demonstrate that this regimen can effectively treat anemia in convalescent premature infants.     

Use of the deoxyuridine suppression test to evaluate localized folate deficiency in rat colonic epithelium

In this study the deoxyuridine suppression test (dUST) was performed on isolated rat colonocytes to establish its value as an indicator of folate status in the colonic epithelium. [3H]thymidine incorporation into DNA was suppressed greater than 90% by deoxyuridine (dU) concentrations greater than 2.5 mumol/L. Preincubation of cells with 5-fluorouracil (1-100 mumol/L) but not methotrexate (10-100 mumol/L) resulted in a significant decrease in the degree of suppression. The dUST performed on colonocytes from folate-deficient animals displayed less suppression than on colonocytes from folate-replete animals (P less than 0.05). The abnormal degree of suppression was corrected by adding 100 mumol folinic acid/L. There was a negative correlation between the degree of suppression and the folate concentration of the colonic epithelium (P less than 0.001). These data indicate that the dUST is useful for detecting folate deficiency in the colonic epithelium and may therefore be valuable in assessing a deficiency state localized to that epithelium.     

Findings and implications from preadmission screening of elderly patients waiting for elective surgery

Volunteers trained by a social worker did a telephone screening of 716 elderly persons waiting for elective surgery to determine in advance of admission their need for social services. On the basis of their findings patients were given a risk rating by a social worker. While the survey was experienced positively by patients, volunteers, and social workers, the results do not establish its value in terms of shortened length of stay. Aging females living alone required the greatest amount of social work and had the longest length of stay. This group requires further study, along with the connection between intensity of illness with social problem vulnerability. The study raises other important questions critical to programming for an increasingly older population.     

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

AIMS—To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome.
METHODS—The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded.
RESULTS—Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome.
CONCLUSION—Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.

     

Retinoblastoma. The relationship of proliferating cells to blood vessels

In 150 retinoblastomas the authors found a uniform thickness of the cuff of viable retinoblastoma cells that surrounds blood vessels. The mean thickness was 98.7 microns with a standard deviation of 11.9 microns. The cross-sectional area of the cuff was negatively correlated with the mitotic activity in the cuff and positively correlated with the diameter of the central vessel. The mitotic activity in the cuff of cells was inversely related to the distance from the central blood vessel. When the cuff was divided into three concentric rings, the inner ring contained a mean of 6.2 mitotic figures, the middle ring contained a mean of 2.9 mitotic figures, and the outer ring contained a mean of 0.6 mitotic figures. This pattern of growth is similar to that observed in other rapidly growing neoplasms in humans and experimental animals. In these tumors this pattern results from reduction in oxygen tension with increased distance from the central blood vessel.     

Effect of dietary protein on the renin-angiotensin system in subtotally nephrectomized rats

Dietary protein restriction improves the course of renal disease in the remnant kidney model. Dietary protein restriction can also reduce plasma renin activity in several circumstances. We examined the interaction between dietary protein and the renin-angiotensin system in subtotally nephrectomized rats (1-2/3 nephrectomy). No difference was seen in tissue renin activity in rats ingesting a high (30%) versus a low (6%) protein diet. To determine the pathophysiological role of angiotensin II in subtotally nephrectomized rats, we examined the acute renal response to an intrarenal infusion of the angiotensin II antagonist Sar1 Gly8-angiotensin II (10 micrograms/kg/min). Only those subtotally nephrectomized animals ingesting a high protein diet exhibited a consistent improvement in glomerular permselectivity, as manifested by a 24% fall in the fractional clearance of albumin (basal 16.19 +/- 3.65 x 10(-4) vs. Sar1 Gly8-AII 12.26 +/- 3.21 x 10(-4); P less than 0.02) and a 19% fall in the fractional clearance of IgG (basal 3.75 +/- 0.67 x 10(-4) vs. Sar1 Gly8-AII 3.03 +/- 0.48 x 10(-4); P less than 0.02). No consistent change occurred in glomerular permselectivity in the rats on the low protein diet or rats infused with vehicle only. No change in mean arterial pressure or whole-kidney hemodynamics were seen with angiotensin II blockade. Decrements in SNGFR and glomerular capillary pressure occurred with angiotensin blockade in the animals ingesting the high protein diet, suggesting hemodynamic factors as a mechanism for the improvement in permselective defects.(ABSTRACT TRUNCATED AT 250 WORDS)     

Gestörte immunologische Regulationsmechanismen im Rahmen endokriner und infektiöser Erkrankungen bei HIV-infizierten Frauen

Ohne Zusammenfassung     

The search for a physiologic marker of Machado-Joseph disease

Machado-Joseph disease is a dominantly inherited, multisystem, degenerative disorder that lacks a proven genetic marker. Peripheral nerve conduction-refractory period, sensory evoked potentials, and quantified oculomotor recordings were studied in nine patients affected with this disease to look for a potential physiologic marker. Only the oculomotor measurements of saccade and smooth pursuit gain were consistently abnormal in all patients. Identical eye movement recordings in 12 asymptomatic individuals at risk for Machado-Joseph disease revealed findings typical of affected patients in only 1 individual. Quantified oculomotor studies may contribute to the early confirmation of the disease, primarily in individuals at risk with minor or equivocal neurologic signs.