Biomedical subjects
Publications and source records attributed to F S Cowchock.
Nanophthalmos is a rare, isolated ocular disorder characterized by a small eye and cornea, shallow anterior chamber, narrow angles, and a high lens/eye volume ratio. A 39-year-old patient with nanophthalmos developed glaucoma. He was noted to have a tall, thin body, feminine features, and testicular atrophy.
Between 1961 and 1978, 19 patients with a diagnosis of childhood or teenage craniopharyngioma received supervoltage radiotherapy. All patients had previously undergone either partial surgical resection (10 patients), total gross resection (3 patients), or aspiration and biopsy (6 patients). Fourteen patients were treated primarily and five were treated for recurrence. The five-year survival was 73% with a 10-year survival of 64%. Sixteen percent developed a recurrence following radiotherapy. Long term effects were assessed in terms of neurologic, intellectual, psychological and endocrine function. Seventy-nine percent had none or minimal neurologic disability. The mean full scale IQ for the group was 90. There were no additional endocrine deficiencies that could be directly attributed to radiation. Behavioral disorders occurred in 50%. These results are at least comparable, if not superior, to those of surgery.
We have evaluated daily blood levels of gonadal steroids and trophic hormones in the cycles of four ovulatory and six anovulatory patients with a luteinizing hormone (LH) surge. The cycles of anovulatory nonhirsute patients were characterized by a premature and blunted LH surge and by low levels of follicle-stimulating hormone (FSH) throughout the study period in the face of normal tonic and peak levels of estrone and estradiol (E2). These observations, together with decreased levels of prolactin, suggest a hypothalamic pituitary abnormality as the cause of anovulation in these patients. The cycles of anovulatory hirsute patients were marked by a decrease in E2 production and a blunted and delayed E2 peak. Androgen levels were elevated throughout the cycle and may have a direct inhibitory effect on ovarian folliculogenesis. The LH/FSH ratio in the follicular phase was high in both groups of anovulatory patients when compared with ovulatory controls; however, the shifts in gonadotropin levels producing the increase in this ratio were different for these two groups.
One-hundred-twelve children with primary brain tumors received definitive radiotherapy between the years 1958--1979. Sixty-nine patients were alive at intervals of 1--21 years. Thirty-eight patients underwent neurologic and endocrine evaluation, psychologic and intelligence testing, and assessement for second malignancy post-treatment. A second intracranial malignancy developed in one child, for an incidence of 1.6%. Performance status was good to excellent in 89% of the patients studied. Seventeen percent of the group were mentally retarded. Behavioral disorders were identified in 39% of the patients, 59% of the mothers, and 43% of the fathers. Of the 23 patients with nonparasellar tumors, six were found to have growth hormone deficiency, including two patients with panhypopituitarism. Disability was related to age under 3 years at the time of treatment and tumor extension to the hypothalamus.
We report two sib fetuses with nuchal systic hygroma and cleft palate. This condition is probably recessively inherited as the parents have normal chromosomes (G-banded) and the fetuses were of opposite sex. Nuchal cystic hygroma is a nonspecific malformation, which reflects a delay in development of the connection between the jugular lymph sacs and the internal jugular vein. This fetal malformation and its equivalent in the adult, neck webbing, has been reported to be a part of a variety of genetic malformation syndromes. Some suggestions for counseling parents of an affected fetus are made: If the chromosome karyotype of an affected fetus is unknown, ultrasound examination, rather than AFP studies, is suggested for future pregnancies.
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Alpha-fetoprotein (AFP) levels in human maternal serum were elevated in 14 patients when measured by a radioimmunoassay. In 8 patients the elveated serum levels of AFP correlated with increased concentration of AFP in amiotic fluid and were diagnostic of fetal defects. The elevated AFP levels in the remaining 6 patients were shown to be the result of fetomaternal transfusion from either amniocentesis or natural causes. Serum samples drawn after amniocentesis through an anterior placenta may show false-positive elevations. The use of both maternal serum and amniotic fluid samples in pregnancies at high risk for neural tube defects can decrease the risk of diagnostic errors due to mistakes in gestational datind and may increase the diagnostic sensitivity of amniocentesis.
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We report a case of neonatal alloimmune thrombocytopenia and intracranial hemorrhage in an infant whose mother received immunizations of paternal mononuclear cells. This therapy is designed to prevent unexplained first trimester miscarriages. No previous cases of platelet autoimmunization associated with maternal immunization with paternal mononuclear cells has been reported. Treatment with antenatal maternal infusions of intravenous gamma globulin (IVGG) did not prevent fetal thrombocytopenia, but IVGG may become the treatment of choice for postnatal, antibody-mediated thrombocytopenia of the newborn.
Pregnancy outcomes for 125 women with unexplained recurrent abortion conceiving after immunologic testing for possible paternal leukocyte immunization were analyzed. Pregnancy success was related to the number of previous miscarriages (relative risk 0.36 for each additional miscarriage after 3), a history of a late pregnancy loss (relative risk 0.18), any other relevant treated or untreatable diagnosis (relative risk 0.27), immunization with paternal mononuclear cells (relative risk 5.6), and time in weeks from test date to LMP of the next pregnancy (relative risk 0.93 for each additional week). The significant difference in pregnancy outcomes between women given a single immunization and nonimmunized women reflected a larger difference between those in each group conceiving within 12 weeks of initiating tests for inclusion in the treatment program. The latter observation suggests that any effect from a single immunization in prevention of recurrent miscarriage is of relatively short duration.
First trimester chorionic villi obtained by chorionic villus sampling at approximately 9 weeks of gestation were investigated by indirect immunofluorescence to demonstrate trophoblast cell surface antigen expression. Villous trophoblast expressing the trophoblast specific markers transferrin receptor, human placental lactogen, and cytokeratin was also found to express a monomorphic major histocompatibility complex class I determinant recognized by the monoclonal antibody W6/32. W6/32 positive regions included sparsely scattered regions of villous trophoblast and fanning outgrowths of trophoblast. The class I antigenic determinant expressed by first trimester trophoblast was found to be recognized exclusively by W6/32 when assayed with a panel of anti-class I determinant monoclonal antibodies. Trophoblast W6/32 determinant expression was not increased after 24 hour organ culture in the presence of 200 U of interferon gamma. Exposure to interferon gamma resulted in increased class I antigen expression by mesenchyme and low level de novo mesenchyme class II antigen expression. These data suggest that early gestational stage villous trophoblast express non-classical class I antigens which do not seem to be subject to the regulatory effects of interferon gamma.
Our two patients had "primary" antiphospholipid antibody syndrome without underlying systemic lupus erythematosus or other systemic autoimmune process, as well as symptomatic immune thrombocytopenic purpura (ITP). The thrombocytopenia did not respond to prolonged courses of corticosteroids and/or immune globulin infusions, but was controlled following splenectomy. The presence of serum antibodies to platelet surface glycoproteins, typical of ITP, could be helpful in the confirmation of both of these disorders in the same patient, rather than secondary thrombocytopenia. Management of such cases is confounded by an increased risk for both bleeding and thrombosis, including fetal death. To reduce the risk of fetal loss and thrombosis, both patients were advised to take aspirin 80 mg daily. The frequency and clinical significance of this association would suggest that patients with ITP should be tested for antiphospholipid antibodies, particularly before pregnancy or surgical procedures. Patients with coexistent antiphospholipid antibody syndrome would be at increased risk for thrombosis in the post-operative period following splenectomy and should be given prophylactic anticoagulation.