Two conceptions in a 45,X woman

We present a 31-year-old woman with a 45,X chromosome constitution who had had two miscarriages. This report brings to 11 the number of presumably non-mosaic Ullrich-Turner syndrome patients who have achieved pregnancy. A review of the literature indicates an increased incidence of chromosome abnormalities and a high rate of fetal death in offspring of such patients. However, in light of the fertility in these patients, genetic counseling should be reevaluated and perhaps amniocentesis recommended in successful pregnancies.     

Production of an HLA-DRw13 antibody in a DRw14 positive multiparous woman

A lymphocytotoxic HLA-DR alloantiserum (Ma159) which reacts with DR7, DR5 and DRw13 positive lymphocytes is described. It was non-cytotoxic against 27 DRw14 positive subjects and was not absorbed by DRw14 positive cells. The antiserum was produced by pregnancy alone in a DR4, DRw14 positive woman whose husband possesses DR7 and DRw13. Absorption and titration studies suggested that the antiserum contains separate antibodies directed towards DR7, DRw13 and a determinant shared by DR5 and DRw13. The implications of finding a specific anti-DRw13 antiserum and its production in a donor positive for the alternative subdivision of DRw6 are discussed.     

Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman

A 37-year-old woman was referred for genetic counseling after termination of her probable seventh pregnancy. Ultrasound examination at 13 weeks of gestation had shown a fetus with bilateral cystic hygromas. A transabdominal amniocentesis confirmed 45,X karyotype in the fetus. The patient had marked short stature and a 45,X chromosome constitution in blood lymphocytes. Subsequently she had a hysterectomy and oophorectomy. Tissue of representative sites of the pathological specimen showed a 45,X chromosome constitution. However, molecular analysis of 8 sites from the uterus and ovaries, and of skin fibroblasts with X-chromosome microsatellites showed the presence of only one allele, except for the microsatellite DXS996 which demonstrated 2 alleles (155 bp and 161 bp) in ovarian tissue. The lymphocytes from the mother and her only son demonstrated the same single allele (161 bp). We conclude that molecular analysis of lymphocytes and of tissue is necessary for detecting low-level mosaicism in apparently homogeneous 45,X women. Am. J. Med. Genet. 75:1–3, 1998. © 1998 Wiley-Liss, Inc.     

The first example of anti-Gya detected in Hong Kong

The incidence of anti-Gya is known to be extremely rare, and only a few examples have been reported in Japanese persons and in Caucasians. This case history reports the first example of anti-Gya detected in a Chinese person. The propositus is an 83-year-old male patient whose anti-Gya was revealed because of incompatibility of all units of blood tested by a saline indirect antiglobulin test (SIAT). Although the antibody had a titer of 512 by SIAT, 10 units of Gy(a+) red cells were transfused without any adverse effect.     

Clinically aggressive primary solid pseudopapillary tumor of the ovary in a 45-year-old woman

We report the first case of primary solid pseudopapillary tumor of the ovary with aggressive behavior and fatal outcome in a 45-year-old woman. The patient presented with weight loss, decrease of appetite, and abdominal bloating for the last several weeks. Computed tomography scan revealed an ovarian mass, omental caking, complex ascites, and 2 hepatic lesions. The pancreas was unremarkable. Grossly, the ovarian mass showed severe capsular adhesion, and the cut surface was cystic and solid. On histologic examination, the tumor was composed of diffuse solid pseudopapillary and pseudocystic patterns. The neoplastic cells were uniform and round with very dispersed chromatin. The cytoplasm was faintly pink. There was mild atypia, but the mitotic rate was as high as 62 per 50 high-power field, and the Ki-67 was elevated at 20%. The tumor exhibited severe necrosis. Numerous foci of lymphovascular invasion were also seen. The tumor cells were positive for cytokeratin (focal) and for β-catenin (cytoplasmic and nuclear patterns). They were negative for chromogranin, synaptophysin, thyroglobulin, calcitonin, hepatocyte-paraffin 1, epithelial membrane antigen, calretinin, and α-inhibin. Electron microscopic study revealed nests of tumor cells with oval nuclei. The cytoplasm contained numerous pleomorphic mitochondria interspersed among short strands of rough endoplasmic reticulum. The tumor involved the fallopian tube, omentum, cul-de-sac, and abdominal wall. The pelvic washing was also positive for tumor cells. Despite chemotherapy, the patient's condition had worsened, and she died of her disease 8 months after the initial diagnosis. We discuss the differential diagnosis of this tumor and the hypothesis of its origin.     

Apoptotic nuclei within the uterine decidua of first trimester pregnancy arise from CD45 positive leukocytes.

PROBLEM: The Fas/Fas-ligand (FasL) system is discussed to be one of the main components responsible for the formation and maintenance of an immune privilege. As we were able to detect FasL on fetal trophoblast cells infiltrating the maternal uterine tissue and Fas on decidual leukocytes (Hammer et al., Am J Reprod Immunol, 1999; 41: 41-51), we investigated whether apoptosis occurs in the maternal decidua during the first trimester of pregnancy. METHOD OF STUDY: A TUNEL-assay was performed in combination with immunofluorescence to detect and characterize cells undergoing apoptosis. RESULTS: Apoptotic nuclei mainly arising from CD45+ leukocytes could be detected in the trophoblast-invaded decidua basalis as well as in the non-invaded decidua parietalis. However, while in the decidua parietalis the apoptotic leukocytes are scattered within the whole functional stroma, in the decidua basalis they are concentrated in the area around the so-called "necrotic foci" and especially in the primary feto-maternal contact zone. where trophoblast cells from the cell columns begin to invade the maternal tissue. CONCLUSION: Because of the irregular distribution of apoptotic CD45+ leukocytes in the decidua basalis we think that some of the maternal leukocytes are activated and killed by fetal trophoblast cells which express FasL.     

The prolonged analgesic effect of an antiserum to beta-endorphin in rats

Intravenous injection of beta-endorphin antiserum lowered the threshold of the tail-shock reaction to nociceptive electrocutaneous stimulation in rats in the first 1-2 days and raised it in the following 2-3 months. Naloxone injection reversed the analgesic effect of antiserum to beta-endorphin. Administration of normal serum did not change the threshold of the nociceptive reaction and naloxone failed to alter its effect. It is suggested that the secondary protracted effect of antiserum to beta-endorphin is a result of activation of the endogenous opioid system as a rebound-effect to diminished liberation of beta-endorphin in the first phase of the action of its antiserum.     

The CD45 tyrosine phosphatase: a positive and negative regulator of immune cell function

The CD45 phosphotyrosine phosphatase is one of the most abundant glycoproteins expressed on immune cells. Previously, the serpentine twists and turns of the CD45 research field have tended to draw attention to CD45 either as a positive or negative regulator of immune cell function. This review draws heavily on CD45 knockout mouse data to emphasize that CD45 has both positive and negative actions in regulating receptor thresholds, and these roles vary according to cell lineage and developmental stage. Previously conflicting results are reconciled in a model suggesting how CD45 regulates the p56(lck)tyrosine kinase in T cell signalling and development.