Constitutional heteromorphism of 9q13→q21 in a patient with chronic myelogenous leukemia

An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.     

Extensive Aberrant Mongolian Spot

A 9-month-old male infant had generalized diffuse blue-gray pigmentation over most of his body, sparing the scalp, face, neck, palms, soles, periumbilical area, genital area, and nipples. Within the lesion, there were several conspicuous macules of considerably darker hue. Histologic examination revealed numerous dermal melanocytes. By 16 months of age, the child's blue-gray pigmentation had decreased substantially.     

The Ethics of Caring for Conjoined Twins The Lakeberg Twins

In June 1993, conjoined twins Amy and Angela Lakeberg became the focus of national attention. They shared a complex six-chambered heart and one liver; only one could survive separation surgery, and even her chances were slim. The medical challenge was great and the ethical challenges were even greater.     

HLA-A9 antibodies and epitopes

Fifty pregnancy alloantisera directed towards HLA-A23 and/or A24 antigens were investigated serologically in titration studies against the three sequenced HLA-A9 specificities, A23 (A*2301), A24 (A*2402) and A2403 (A*2403). The reaction patterns of the antisera fell into five categories which allowed the three HLA-A9 specificities to be easily differentiated. Based on the various titre cytotoxicity scores of the antisera five possible antibody specificities were defined: anti-A23; -A24; -A23/24; -A24/2403 and anti-A23/24/2403. One antiserum crossreacted with HLA-A1 and A24. Inspection of the amino acid sequences of 136 HLA-A, B and C molecules allowed the prediction of five unique epitopes corresponding to these antibody specificities, a possible epitope unique to A2403 and confirmation of a likely epitope shared by A1 and A24. These, together with the previously suggested epitopes HLA-A9/ A2/A28 and A1/A23/A24 together with the presence of Bw4 on the three HLA-A9 antigens suggests that the HLA-A9 family of antigens is characterized by a minimum of nine serologically definable epitopes.     

Effects of transforming growth factor-β and platelet-derived growth factor on human gingival fibroblasts grown in serum-containing and serum-free medium

Abstract. Both transforming growth factor-β (TGF-ß) and platelet-derived growth factor (PDGF) have been shown to affect cell proliferation in vitro. The hypothesis being tested was that the effects of the 2 cytokines would be modulated by the presence of serum in the medium. Gingival fibroblasts, obtained from periodontally healthy patients, were maintained in primary culture. Dose response experiments were performed for each growth factor in serum-free medium and in medium containing natural or heat-inactivated fetal bovine serum (10% FBS). Changes in cell numbers were quantified by crystal violet staining. The optimal concentrations of the individual factors (10 ng/ml TGF-ßI, 20 ng/ml PDGF-BB) were then used when the 2 factors were tested in various sequences. In serum-free medium or in medium with 10% natural serum, the response to PDGF-BB was dose-dependent up to 40 ng/ml; however, with 10% heat-inactivated serum, the maximal response was seen at 20 ng/ml. The largest increase in cell numbers was produced by the simultaneous exposure to the two cytokines, rather than a sequential presentation. The findings suggest that the 48-h growth response of human gingival fibroblasts to 10 ng/ml TGF-ß1 or 20 ng/ml PDGF-BB in serum-free medium was equivalent to growth obtained in medium containing heat-inactivated 10% FBS without added growth factors.     

Stereotactically-guided craniotomy for cavernous angiomas presenting with epilepsy

Summary With the wider availability of magnetic resonance imaging cavernous malformations are being recognised with increasing frequency in those patients presenting with intractable epilepsy. Surgical resection is the treatment of choice. However, because these lesions are usually small and may be located in eloquent areas stereotactic resection should be considered. Stereotactically-guided resection of pathologically verified cavernous angiograms was performed in 10 patients in this series presenting with epilepsy (8 males, 2 females, mean age 32 years). Eight patients presented with medically intractable epilepsy (5 complex partial seizures, 3 grand mal seizures). Of the remaining patients one experienced multiple episodes of haemorrhage and the other headaches (with a non-diagnostic scan) both in association with epilepsy. Pre-operative localisation of the motor strip was determined in one case by functional MRI. Following resection of these lesions all patients experienced improved seizure control with a mean follow-up period of 22 months. The mean postoperative hospital stay was 5.1 days with no surgical complications recorded. We conclude that stereotactically-guided resection offers significant advantages in the management of cavernous malformations.Surgical indications for operative resection would include medically refractory epilepsy, repeated haemorrhage and those cases where there is diagnostic uncertainty.