Two unique patients with trisomy 18 mosaicism and molecular marker studies

We report two unusual patients with trisomy 18 mosaicism presenting with minor anomalies and failure to thrive in the first year of life. Chromosome analysis showed trisomy 18 in 30/30 peripheral blood lymphocytes in both children. Analysis of skin fibroblasts in the first child showed normal female chromosomes in 30/30 cells, and the fibroblast karyotype in the second child showed mosaicism for tetrasomy 18p, trisomy 18, and normal female chromosomes (karyotype 47,XX, +i(18)(p10)[47]/47,XX, +18[9] /46,XX[4]). Trisomy 18 commonly results from nondisjunction at maternal meiosis II (MII). Nondisjunction at maternal MII has also been postulated to be the initial step in the formation of tetrasomy 18p. In our second case, the additional chromosome 18 was the result of maternal nondisjunction at MII, consistent with this hypothesis. In the first case, nondisjunction at maternal meiosis I (MI) was responsible for the extra chromosome 18.     

Dynamic imaging of the lungs using x-ray phase contrast

High quality real-time imaging of lungs in vivo presents considerable challenges. We demonstrate here that phase contrast x-ray imaging is capable of dynamically imaging the lungs. It retains many of the advantages of simple x-ray imaging, whilst also being able to map weakly absorbing soft tissues based on refractive index differences. Preliminary results reported herein show that this novel imaging technique can identify and locate airway liquid and allows lung aeration in newborn rabbit pups to be dynamically visualized.     

The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis

BACKGROUND: Patients with familial adenomatous polyposis have a nearly 100 percent risk of colorectal cancer. In this disease, the chemopreventive effects of nonsteroidal antiinflammatory drugs may be related to their inhibition of cyclooxygenase-2. METHODS: We studied the effect of celecoxib, a selective cyclooxygenase-2 inhibitor, on colorectal polyps in patients with familial adenomatous polyposis. In a double-blind, placebo-controlled study, we randomly assigned 77 patients to treatment with celecoxib (100 or 400 mg twice daily) or placebo for six months. Patients underwent endoscopy at the beginning and end of the study. We determined the number and size of polyps from photographs and videotapes; the response to treatment was expressed as the mean percent change from base line. RESULTS: At base line, the mean (+/-SD) number of polyps in focal areas where polyps were counted was 15.5+/-13.4 in the 15 patients assigned to placebo, 11.5+/-8.5 in the 32 patients assigned to 100 mg of celecoxib twice a day, and 12.3+/-8.2 in the 30 patients assigned to 400 mg of celecoxib twice a day (P=0.66 for the comparison among groups). After six months, the patients receiving 400 mg of celecoxib twice a day had a 28.0 percent reduction in the mean number of colorectal polyps (P=0.003 for the comparison with placebo) and a 30.7 percent reduction in the polyp burden (the sum of polyp diameters) (P=0.001), as compared with reductions of 4.5 and 4.9 percent, respectively, in the placebo group. The improvement in the extent of colorectal polyposis in the group receiving 400 mg twice a day was confirmed by a panel of endoscopists who reviewed the videotapes. The reductions in the group receiving 100 mg of celecoxib twice a day were 11.9 percent (P=0.33 for the comparison with placebo) and 14.6 percent (P=0.09), respectively. The incidence of adverse events was similar among the groups. CONCLUSIONS: In patients with familial adenomatous polyposis, six months of twice-daily treatment with 400 mg of celecoxib, a cyclooxygenase-2 inhibitor, leads to a significant reduction in the number of colorectal polyps.     

The utility of Wechsler Adult Intelligence Scale profile analysis with prisoners

Determined the efficacy of profile analysis with a prison population (63 white, 63 black) of the Petersburg Federal Correctional Institution as Ss. By use of Veldman's Hierarchical Profile Analysis, five distinctive WAIS profile types were derived empirically for each racial group. Analyses of covariance that controlled for full-scale IQ differences revealed significant differences among the profile types within each race in terms of Stanford Achievement Test scores and MMPI T-scores. Further, partial correlations indepepdent of full-scale IQ revealed significant relationships between some of the profile types and the commission of rule infractions while incarcerated. These findings are interpreted as supportive of profile analysis with inmate populations. However, it is suggested that further research be effected to cross-validate these findings.     

Mycobacterium chelonae causing otitis media in an ear-nose-and-throat practice

Seventeen cases of otitis media caused by Mycobacterium chelonae were detected among patients seen at a single ear-nose-and-throat (ENT) office (Office A) in Louisiana between May 5 and September 15, 1987. All the patients had a tympanotomy tube or tubes in place or had one or more tympanic-membrane perforations, with chronic otorrhea that was unresponsive to standard therapy with antimicrobial agents. Middle-ear exploration in six patients revealed abundant granulation tissue; multiple granulomas and acid-fast bacilli were demonstrated on a section of tissue from one patient with a nonhealing mastoidectomy incision. Thirteen of the 14 ear isolates obtained from patients seen in Office A had the same unusual pattern of high-level resistance to aminoglycosides. M. chelonae and other nontuberculous mycobacteria were recovered from several sources of water in Office A, as well as in another ENT office (Office B) in a neighboring city that was visited by the index patient. Only one additional case was detected in Office B during the same period. Otologic instruments in Office A were cleaned in an ultrasonic bath with tap water and a liquid detergent; the contents of the bath were changed only once weekly. Instruments in Office B were placed in boiling water between patient examinations. This outbreak establishes M. chelonae as an agent of otitis media and underscores the need for high-level disinfection or sterilization of ENT instruments between examinations to prevent the transmission of this organism to patients in the office setting.     

The relationship of residents' autonomy and use of a teaching hospital's resources

This 1990 study examines the relationship between the degree of use of patient care resources and the degree of supervision of residents by attending physicians (as perceived by residents) at a large midwestern teaching hospital. Ratings of the degree of clinical autonomy allowed residents by 65 attending physicians--each of whom had a general internal medicine practice with a significant hospital component--were provided by 23 former internal medicine chief residents and 17 internal medicine residents who were in their third year at the time of the study. A regression model was used to test the association between hospital resource use (as shown by total hospital charges to patients and their lengths of stay) and the residents' mean ratings of the degrees of autonomy the attending physicians permitted residents, for 7,169 of these physicians' patients discharged between 1986 and 1989 in 28 diagnosis-related groups. The analysis was controlled for patients' insurance status and chronic disease comorbidities. The patients whose attending physicians were rated as allowing substantial clinical autonomy had significantly lower total charges and lengths of stay (p less than .0001). These results suggest that internal medicine residents have an inherently conservative practice style that values low-intensity workups and rapid discharge of patients.     

Cytotoxic T cell recognition of Epstein-Barr virus-infected B cells. III. Establishment of HLA-restricted cytotoxic T cell lines using interleukin 2

Epstein-Barr virus (EBV)-specific cytotoxic T cell precursors, present in the circulation of previously infected (seropositive) individuals, have been reactivated in vitro by challenging with autologous EBV-transformed cells, and the reactivated populations subsequently expanded as interleukin 2 (IL2)-dependent cell lines. These lines were dominated by T cells possessing the cytotoxic/suppressor cell surface phenotype and, when tested for effector function in chromium-release assays, demonstrated potent EBV-specific, HLA-A and -B antigen-restricted cytotoxicity even when derived from seropositive donors whose initial cytotoxic response to in vitro reactivation was relatively weak. With all the lines tested from 10 seropositive donors, strong killing of autologous EBV-transformed cells was observed in the absence of any significant lysis of autologous mitogen-stimulated lymphoblasts or of a panel of EBV genome-negative cell lines sensitive to natural killing. Furthermore, the availability of IL2-expanded effectors cell populations allowed their being tested upon a wide panel of allogeneic EBV-transformed targets such that the dominant HLA-restricted reactivities within these populations could be identified. Monoclonal antibody blocking experiments confirmed that lysis of the autologous EBV-transformed cell line by IL2-expanded effectors could be specifically inhibited (a) by pretreatment of the target cells with antibodies binding to the HLA/beta 2-microglobulin complex, and (b) by pretreatment of the effector cells with the cytotoxic/suppressor T cell-specific antibody Leu 2a.     

Ceratobium mosaic potyvirus: another virus from orchids

Summary.  A potyvirus, which we call ceratobium mosaic virus, has been detected in about one third of more than 100 plants representing c. 33 orchid genera in two collections in Australia. It was detected using RT-PCR with redundant primers that are Potyviridae-specific and have additional sequences corresponding to either the SP6 or T7 bacteriophage promoters at their 5′-termini. Thus the nucleotide sequence of the resulting PCR fragments, consisting of about 1.7 kb of the 3′ portion of the viral genome, could be determined directly. Viral sequences obtained from five infected orchids indicate that they contained different isolates of a single potyvirus species most closely related to the bean common mosaic group of potyviruses, but clearly distinct from all whose virion protein genes have been reported to the international gene sequence databases. Accepted December 18, 1997 Received September 9, 1997