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Biomedical subjects

L Holley

Publications and source records attributed to L Holley.

12 recordsLinked to original sources

Fibromuscular dysplasia recurrence after kidney transplantation: case report.

We report the extremely rare recurrence of intimal fibroplasia, a rare form of fibromuscular dysplasia, in a kidney recipient at 6 months after transplantation from a living-related donor. The patient was successfully treated and maintains good kidney function, however, the case raises the question of whether kidneys with fibromuscular dysplasia should be included in the expanded criteria for kidney transplantation.

Adult↗

The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia.

PURPOSE: Homozygosity for the (AT)7 allele of uridine diphosphate glucuronosyl transferase 1A (UGT1A1) gene polymorphism is associated with increased bilirubin levels in sickle cell anemia (SCA). In the present study, in addition to UGT1A1 promoter genotype, serum bilirubin level was related to other genetic modifiers -beta(S)-globin gene haplotype, Hb F, co-inherited alpha-thal trait, age and gender. METHODS: The patients were randomly selected from the sickle cell clinic, Medical College of Georgia. UGT1A1 promoter polymorphisms were determined using automated sequencing. Other investigations were with standard techniques. RESULTS: There were 67 SCA patients (41 males and 26 females), aged 2-44 yr (mean of 20.6 +/- 10.7). Ten (14.9%) patients were homozygous for the (AT)6 UGT1A1 allele, 35 (52.2%) were heterozygous for (AT)6 and (AT)7 alleles while 22 (32.8%) were homozygous for (AT)7. Serum bilirubin was significantly higher in the homozygous (AT)7 group (3.7 +/- 1.5, 3.8 +/- 2.3 and 5.6 +/- 2.4 mg/dL, respectively). It was also significantly higher in males than females and in patients aged >10 yr. There was a significant negative linear correlation (r = -0.304, P = 0.016) of serum bilirubin with Hb F. The beta-globin haplotype and co-existing alpha-thal trait did not have any significant influence on serum bilirubin levels. Patients on hydroxyurea were older, had lower Hb F, but higher mean serum bilirubin. The latter also was signifcantly higher among those with UGT1A1 (AT)7 homozygosity. CONCLUSIONS: Apart from UGT1A1 (AT)7 homozygosity, Hb F, age and gender are the other factors that significantly influence serum bilirubin level in SCA.

Adolescent↗

Postmortem molecular diagnosis of sickle beta thalassaemia.

This report describes a case in which the diagnosis of sickle cell disease (SCD) was established after death. The diagnosis of sickle cell syndrome was made in a 68 year old black patient who was found to have sickled red blood cells in many organs at necropsy although the disease had not been diagnosed during her lifetime. DNA was isolated from a peripheral blood smear obtained on the day of the patient's death. The beta globin gene was polymerase chain reaction amplified and sequenced, revealing that the patient had S-beta(+) thalassaemia. This study shows that blood smears are a suitable source for retrospective DNA analysis studies. This case illustrates that relatively "mild" forms of SCD can be overlooked, despite symptomatology suggestive of a sickle syndrome, and demonstrates the feasibility of the postmortem molecular diagnosis of haemoglobinopathies in such cases.

Aged↗

Influence of fibrinogen and haematocrit on erythrocyte sedimentation kinetics.

This study investigates the influence of haematocrit, fibrinogen concentration and fibrinogen availability (amount of fibrinogen per red blood cell) on erythrocyte sedimentation. The Westergren technique was applied to blood samples from 36 subjects and to their blood manipulated to haematocrits of 10, 20, 30 and 40%. Readings were taken every 10 minutes for 300 minutes. Previous studies indicate that erythrocyte sedimentation occurs in three phases. In this study, we show that haematocrit has little influence on either the rate of fall of particles in the first phase (m1) or the duration of the first phase. This is also true for fibrinogen availability and for fibrinogen concentration at low haematocrits. At high haematocrits m1 increases with fibrinogen concentration. The rate of fall of rouleaux during phase 2 (m2) and ESR60 both decrease exponentially with haematocrit and increase linearly with fibrinogen concentration. While m2 is more closely correlated to fibrinogen availability than to fibrinogen concentration or to haematocrit, this is not the case for ESR60. Thus haematocrit, fibrinogen concentration and fibrinogen availability are more important to the velocity of sedimentation in the second phase than to the sedimenting velocity during phase 1 or to the duration of phase 1.

Adult↗

Ventricular fibrillation and defibrillation thresholds in sheep and dogs.

Ventricular defibrillation studies normally use dogs rather than other large species. To investigate the suitability of sheep, which are often cheaper and more readily available, we compared ventricular fibrillation and defibrillation thresholds (VFT, DFT) in sheep and dogs. A total of 12 sheep (31 +/- 5 kg) and six dogs (19 +/- 1 kg) were anesthetised with halothane. Fibrillation was induced via epicardial pacing leads, using a 1 s 50 Hz pulse. Biphasic defibrillation shocks were delivered across epicardial patches. Voltage-response curves for both fibrillation and defibrillation were generated. Logistic regression analysis was used to determine 50 and 90% probability of success for fibrillation induction and defibrillation. VFT was similar in sheep and dogs. DFT at 50% probability of success was significantly higher in sheep (369 +/- 14 V) than in dogs (299 +/- 31 V, P < 0.04) but within each species there was no correlation between heart weight and DFT. After defibrillation sheep took longer to return to sinus rhythm than dogs and electro-mechanical dissociation was observed in sheep, but not in dogs. Thus, sheep may not be an ideal model for ventricular defibrillation research but further studies of the intrinsic differences between sheep and dogs may provide insights into basic mechanisms of defibrillation.

Animals↗

Dilated duct pattern at mammography.

PURPOSE: To determine the importance of a dilated duct pattern at mammography. MATERIALS AND METHODS: Mammograms obtained in 46 women with histopathologically proved, asymmetrically dilated ducts were retrospectively studied. The laterality and location of the asymmetrically dilated duct, the presence of branching, and associated findings such as microcalcifications, nipple discharge, and interval change were evaluated. RESULTS: Eleven patients (24%) had malignant results (ductal carcinoma in situ or invasive ductal carcinoma). Among these, six (54%) had suspicious microcalcifications. Nonsubareolar location and interval change are significant (P = .04) variables associated with malignancy. CONCLUSION: Mammographic asymmetrically dilated ducts in a nonsubareolar area that are associated with interval change, suspicious microcalcifications, or both warrant biopsy.

Adult↗

Erythrocyte sedimentation in columns and the significance of ESR.

Erythrocyte Sedimentation Rate (ESR) is a simple, non-specific clinical test. Most models of erythrocyte sedimentation (ES) are formulated as a sigmoid function but consider the ES process to consist of three distinct phases: single-cell fall; fall of rouleaux and aggregates; cell packing. Recently, a piecewise (three-phase) continuous model has been developed. Our study applies ES data from 29 haematologically normal subjects to this model and re-evaluates the mechanism of ES using the derived model parameters. Using the Westergren technique, ES readings were taken every 10 minutes for 300 minutes. Three subjects remained in the first phase, while 26 displayed three discrete phases. For the 26 subjects, the average rate of fall of the sedimenting particles in the first phase 87 microns/min, while that of the second phase was 176 microns/min. The ratio of these two values suggests an alternative nature of sedimenting particles in the first phase. Further, the average duration of the first phase was 62 minutes, suggesting that, in 50% of subjects, aggregate formation is incomplete when ESR is measured at 60 minutes.

Blood Sedimentation↗