Bilateral posterior lens dislocation in Marfan's syndrome

Complete dislocation of the lens is a rare feature of Marfan's Syndrome. We observed four cases of bilateral complete posterior dislocation of the lens in established cases of Marfan's Syndrome over a one year period. An ophthalmologist may encounter infrequently, unilateral posterior dislocation in one eye and ectopia lentis in the other, but bilateral spontaneous posterior dislocation is rare. All our cases had associated vitreous degeneration with vitreous herniating into the anterior chamber. The pathogenesis of complete posterior dislocation in Marfan's Syndrome is discussed.     

A cell line from Wilms' tumour with deletion in short arm of chromosome II

A cell line (T3/73) from a Wilms' tumour has been established from a 9 month-old boy with aniridia. The tumour was removed in 1973. On histological examination a diagnosis of Wilms' tumour was made which showed undifferentiated areas, marked tubule formation and abundant striped muscle fibres. The tumour cells, which are fusiform, grew rapidly in culture without the addition of growth factors, and have undergone over 100 passages. Approximately 95% and 5% were positive for desmin and cytokeratin, respectively. The cell doubling time was 28 hr. Cytogenetic studies revealed a karyotype of 46,XY,del(11) (p12::p14). Although the cells stained very intensely with a monoclonal antibody that detects oncogene ras p 21 antigen, Southern blot analysis using c-Ha-ras as a probe failed to reveal an obvious deletion or amplification of either Ha-ras allele.     

Variability in cardiovascular and plasma norepinephrine responses to head-up tilt in healthy human subjects.

Eight healthy, young adult males underwent three separate, 10-min 70 degrees head-up tilts (HUT) over a period of nine days, in order to assess the intra- and inter-individual variability of cardiovascular and plasma norepinephrine (NE) responses to the manoeuvre. Cardiovascular parameters and plasma NE were measured in the basal state and at 2-min intervals during the HUT. The results indicate that: (1) the intra-individual variability is a smaller component of the total variability of both cardiovascular and plasma NE responses to HUT; (2) the variability in cardiovascular parameters is smaller than that in plasma NE levels, both basal and in response to postural stress; (3) there does not appear to be any difference in variability when expressed either as the maximal or the mean response to HUT; and (4) there does not appear to be an increase in the variability of the measured parameters over the duration of the HUT.     

Interactions Between Cytomegalovirus, Human Herpesvirus-6, and the Recurrence of Hepatitis C After Liver Transplantation

Recurrence of hepatitis C (HCV) following liver transplantation is common. Herpesvirus reactivation following transplant may have an immunomodulatory effect resulting in increased HCV replication. We studied whether cytomegalovirus (CMV) and human herpesvirus-6 (HHV-6) may be associated with HCV recurrence and viral load after transplant. We prospectively followed 66 HCV liver-transplant recipients with serial viral load testing for CMV and HHV-6. Infection and viral load were correlated with the development of biopsy-proven HCV recurrence and HCV viral loads. Histologic recurrence of HCV occurred in 41/66 (62.1%) patients. In the primary analysis, CMV infection and disease, and HHV-6 infection were not associated with HCV recurrence. Peak CMV and HHV-6 viral loads were not significantly different in patients with and without recurrence. No correlation was observed between HCV viral loads at 1 and 3 months post-transplant and peak HHV-6 or CMV viral loads. In a subgroup analysis, HHV-6 infection was associated with the development of more severe recurrence (hepatitis and/or fibrosis score > or = 2) (p = 0.01). Also, fibrosis scores at last follow up were higher in patients with CMV disease (1.67 vs. 0.56; p = 0.016) and in patients with HHV-6 infection (1.18 vs. 0.55; p = 0.031). In conclusion, HHV-6 and CMV infection and viral load were not associated with increased overall rates of HCV recurrence or HCV viral load after liver transplantation but may be associated with more severe forms of recurrence.     

Selection of sites for slit skin smears in untreated and treated leprosy patients

A total of 1000 slit-skin smears were taken from multiple sites (both ear lobules, right elbow, dorsal aspect of middle phalanx of the left finger, and dorsum of middle phalanx of the right foot) from 558 leprosy patients. There were 319 sets (1595 smears) from untreated patients and 681 sets (3405 smears) from the treated group. The duration of treatment varied from 6 months (multidrug therapy) to 7 years (dapsone monotherapy). The ear lobules gave significantly higher values for the bacterial index (BI) compared to toes and fingers in the untreated group. The morphological index (MI) was also significantly higher from the ear lobules compared to toes, elbows, and fingers. In five patients from the untreated group, bacilli were found in some other sites when the earlobes did not reveal any. In the treated group, all sites yielded similar BI and MI values, the figures being lowest from elbows and toes but not different statistically. In 20 long-treated patients, bacilli were detected at sites other than the ear lobules. In 28 patients, sites other than the ear lobules gave a higher MI and in 20 patients, solid bacilli were seen at sites other than the ear lobules.     

Prognostic relevance of DNA ploidy in rhabdomyosarcomas and other sarcomas of childhood.

A study of DNA content by flow cytometry revealed a significant difference between rhabdomyosarcomas, which were mainly non-diploid, and other sarcomas of children which were mainly diploid (p = 0.01). There was no association between DNA ploidy and survival or aggressive behaviour of the tumour as indicated for example by advanced clinical stage or unfavourable histology. While DNA ploidy correlated with age, it did not correlate with any other clinical characteristic. The apparent lack of prognostic value of DNA content may have been masked by some high CV values and overridden by the effect of chemotherapy which was the most significant variable in determining a patient's survival (p = 0.00005).