Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases

Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be a carrier of the same translocation. In a further patient, the translocation was shown to be de novo and in the remaining patient the father was not available for chromosome studies. In a review of the literature the breakpoints in 36 familial balanced translocations were compared with 40 de novo translocations (including the present cases) all associated with phenotypic abnormalities. No common translocation was found in these groups, but it was observed that chromosomes 4 and 5 were significantly more involved in de novo translocations than in familial translocations. The possible aetiology and implications for prenatal diagnoses are discussed.     

Delineating the sites and progression of in vivo atrophy in multiple system atrophy using fluid-registered MRI.

We describe the pattern and progression of atrophy delineated using fluid registration of serial magnetic resonance imaging scans in a case of multiple system atrophy (MSA). The in vivo findings were consistent with those found at postmortem, including significant supratentorial atrophy concurrent with an unusual degree of cognitive impairment for MSA.     

The effect of baseline complex ovarian cysts on in vitro fertilization outcome.

STUDY OBJECTIVE: To determine the effect of baseline complex ovarian cysts on controlled ovarian hyperstimulation and in vitro fertilization (IVF) outcome. DESIGN: Retrospective analysis with stratification by stimulation regimen and the presence or absence of surgically documented endometriosis. PATIENTS: Two hundred sixty-one women undergoing IVF from May 1, 1989 to December 31, 1990. MAIN OUTCOME MEASURES: The outcome measures assessed were the maximum estradiol (E2) concentration on day of human chorionic gonadotropin (hCG) administration, number of follicles with maximum diameter greater than or equal to 15 mm, number of follicles with maximum diameter greater than or equal to 12 mm, number of days to hCG administration, number of ampules of human menopausal gonadotropin (hMG) used, number of oocytes retrieved and fertilized, number of embryos transferred, and pregnancy and cycle cancellation rates. RESULTS: There were no statistical differences between cyst and noncyst groups in any of the above parameters of IVF performance. In a single subgroup, patients with endometriosis stimulated with hMG and patients with cysts had significantly lower E2 concentrations than patients without cysts. CONCLUSION: The presence of a complex cyst on a baseline ultrasound does not appear to adversely affect IVF cycle outcomes.     

In situ forces in the anterior cruciate ligament and its bundles in response to anterior tibial loads

The anterior cruciate ligament has a complex fiber anatomy and is not considered to be a uniform structure. Current anterior cruciate ligament reconstructions succeed in stabilizing the knee, but they neither fully restore normal knee kinematics nor reproduce normal ligament, function. To improve the outcome of the reconstruction, it may be necessary to reproduce the complex function of the intact anterior cruciate ligament in the replacement graft. We examined the in situ forces in nine human anterior cruciate ligaments as well as the force distribution between the anteromedial and posterolateral bundles of the ligament in response to applied anterioi tibial loads ranging from 22 to 110 N at knee flexion angles of 0–90°. The analysis was performed using a robotic manipulator in conjunction with a universal force-moment sensor. The in situ forces were determined with no device attached to the ligament, while the knee was permitted to move freely in response to the applied loads. We found that the in situ forces in the anterior cruciate ligament ranged from 12.8 ± 7.3 N under 22 N of anterior tibial load applied at 90° of knee flexion to 110.6 ± 14.8 N under 110 N of applied load at 15° of flexion. The magnitude of the in situ force in the posterolateral bundle was larger than that in the anteromedial bundle at knee flexion angles between 0 and 45°, reaching a maximum of 75.2 ± 18.3 N at 15° of knee flexion under an anterior tibial load of 110 N. The magnitude of the in situ force in the posterolateral bundle was significantly affected by knee flexion angle and anterior tibial load in a fashion remarkably similar to that seen in the anterior cruciate ligament. The magnitude of the in situ force in the anteromedial bundle, in contrast, remained relatively constant, not changing with flexion angle. Significant differences in the direction of the in situ force between the anteromedial bundle and the posterolateral bundle were found only at flexion angles of 0 and 60° and only under applied anterior tibial loads greater than 66 N. We have demonstrated the nonuniformity of the anterior cruciate ligament under unconstrained anterior tibial loads. Our data further suggest that in order for the anterior cruciate ligament replacement graft to reproduce the in situ forces of the normal anterior cruciate ligament, reconstruction techniques should take into account the role of the posterolateral bundle in addition to that of the anteromedial bundle.     

Expression of pS2, c-erbB-2, and cathepsin D during the menstrual cycle in human breast cancers

Background: Many studies have addressed the effect of the timing of surgery for breast cancer relative to menstrual cycle phase, with conflicting results. Explanations for the possibility that survival could be altered by the appropriate timing of breast cancer surgery in humans remain speculative. Methods: We examined the expression of three estrogen related proteins (c-erbB-2, cathepsin D, pS2) in the breast tumors from 69 premenopausal women sampled in different phases of the menstrual cycle. Data on S-phase fraction and hormone receptor expression were also analyzed. Immunohistochemical assays were used to measure the proteins of interest. S-phase fraction was determined by flow cytometry. Analyses were performed based on fraction of cells staining positive for the protein, density of stain, and a histoscore that combined both fraction of positive cells and density. Results: We found no differences in c-erbB-2, cathepsin D, hormone receptor, or S-phase levels in tumors sampled in the follicular versus luteal phase, or perimenstrual versus periovulatory phase. The exception was pS2, which was expressed at greater levels during the luteal than during the follicular phase of the cycle (p<0.01); but there was no difference in pS2 expression when the patients were classified as periovulatory versus perimenstrual. Conclusions: Our findings do not support a variation in c-erbB-2, cathepsin D, S-phase fraction, or receptor expression as an explanation for the differences in breast cancer prognosis when surgery is timed by menstrual cycle phase. The finding that pS2 (an indicator of hormone sensitivity, and possibly better prognosis) is expressed at higher levels in tumor samples during the luteal phase suggests that the biologic profile of breast tumors may vary with the menstrual cycle and that these variations deserve further study.     

Anaesthetists, the discourse on patient fitness and the organisation of surgery

The organization of daily procedures within the operating theatre is considered in terms of rival perspectives on their patient held by surgeon and anaesthetist. The privileging of the surgeon's authority is challenged in anaesthetists' efforts to fabricate a distinctive position on the patient. While surgeons focus on patient as the carrier of disease, for the anaesthetist, the focus is upon the patient's complement of fitness. A postmodern analysis of the organization of surgery reflects the continual struggle between the two specialisms to privilege its particular definition of the surgical patient. In some circumstances, the struggle can have damaging consequences for patient care.