Association of Clinical Cytogeneticists chorion villus sampling database 1987-2000.

OBJECTIVES: To produce a fully searchable Microsoft Access database of mosaic and non-mosaic cytogenetic abnormalities, detected during diagnostic chorionic villi sampling (CVS) to aid laboratories in predicting pregnancy outcome, in particular differentiating between cases of likely genuine fetal cytogenetic abnormalities and those likely to represent confined placental mosaicism (CPM). METHODS: Retrospective collection of referral data, initial karyotype data, follow-up karyotype data and pregnancy outcome data from almost all cytogenetically abnormal diagnostic CVS, processed in UK National Health Service laboratories, between 1987 and 2000. Collection of similar data from a published series of CVS and individual case reports. RESULTS: A fully searchable database of abnormal CVS cases, containing over 5000 entries, has been produced. This is available to download at http://www.ncl.ac.uk/cvs/. CONCLUSIONS: Following detection of a cytogenetic abnormality during prenatal diagnosis using CVS, use of this database allows rapid access to comparable cases from the United Kingdom and the literature. This database will improve the speed of availability and quality of information available to clinicians and patients for pregnancy management and counselling purposes. The database has been designed with future data collection in mind, and can be developed for wider research use, through more detailed registries of individual chromosome abnormalities.

Use of rectal cancer position as a prognostic indicator.

The hypothesis of this study was that the position of rectal cancer within the circumference of the rectum influences mortality. Tumor position was prospectively documented in 181 patients with rectal carcinoma by two examiners. The results were analyzed for correlation to survival using the Lifetest model and for multivariate correlation using the Cox regression model. An anterior tumor location was present in 43 patients and was found to have a significantly higher survival rate than other positions. Two-thirds of anterior tumors were of pathologically favorable Dukes' stages. Fifty-five patients had posterior tumors with decreased survival rates, two-thirds of which were of unfavorable stages. Circumferential position in 61 patients was most predictive of poorer outcome, with a relative risk of death being increased by 4.6 times (P = 0.014) and a 5-year survival rate of 68.8 per cent; 85 per cent of these tumors were of pathologically unfavorable stages. The 5-year survival rate for the whole group, which included 181 patients with all histopathological stages except those with distant metastases at presentation, was 78.5 per cent. This ranking of survival rates was found to be consistent in each category with the postoperatively determined Dukes' stage, which carried a prognostic significance of P = 0.0001. We conclude that tumor position is a significant indicator of prognosis available before surgery for rectal cancer.

Long-term follow-up of patients treated with ileoendorectal pull-through and right colon onlay patch for total colonic aganglionosis.

BACKGROUND/PURPOSE: This study was performed to assess the long-term follow-up of five patients who underwent one-stage ileoendorectal pull-through with right colon onlay patch for total colonic aganglionosis (TCA) at Kaiser Permanente Medical Center. METHODS: A retrospective review of inpatient and outpatient charts and telephone follow-up of all patients were conducted to obtain current data regarding growth, development, bowel function, and postoperative and late complications. RESULTS: Follow-up has ranged from 2 to 11 years. All patients are at or above the 50th percentile for weight by age and are continent with 1 to 5 daily bowel movements. Only two patients required reoperation. A perirectal abscess developed in one patient 2 months postoperatively. In the second patient a functional obstruction was relieved by sphincterotomy. CONCLUSIONS: Ileoendorectal pull-through with right colon onlay patch is associated with few early and late postoperative complications; it appears to be superior to other procedures in the early postoperative period because of the more rapid return to acceptable stooling patterns. This method of reconstruction provides an excellent opportunity for normal growth, development, and long-term bowel function.

Technetium-99m-labeled red blood cell scans in the investigation of gastrointestinal bleeding.

PURPOSE: Technetium-99m-labeled red blood cell scans (Tc99m RBC scan) are recommended to confirm gastrointestinal (GI) bleeding. It is controversial whether these scans are sufficient to localize the site of bleeding. This study evaluated the efficacy of RBC scans in confirming and localizing GI bleeding. Our hypothesis was that these scans were effective in localizing GI bleeding if positive within the continuous phase of imaging. METHOD: Tc99m RBC scans were performed on a total of 80 patients over a four-year period to localize GI bleeding (59 male, 21 female; age range 6-88 (mean, 48) years). Films of 75 of the 80 patients were reread by a nuclear medicine physician who was blinded to the original reading and identity and history of the patient. Results of scans were compared with confirmatory studies. RESULTS: A total of 21 patients had positive scans (28 percent). Of these, the site of bleeding in 16 of 21 patients (76 percent) was confirmed by angiography (4/16), endoscopy (10/16), surgery (10/16), or a combination of these. In 14 of the 16 confirmed studies (88 percent), RBC scan correctly localized site of bleeding by our rigid definition. In six patients (4 not confirmed, 2 erroneously localized), scans were positive only at greater than 15 hours. Ten of the 14 correctly localized studies and none of the incorrectly localized studies were positive in the continuous phase of imaging. CONCLUSION: Tc99m RBC scan is effective in localizing GI bleeding when positive within the continuous phase of imaging. In this population supplemental angiography or endoscopy for the purpose of localization would seem unnecessary.

Outbreak of HIV infection in a Scottish prison.

OBJECTIVE--To investigate the possible spread of HIV infection and its route of transmission among prison inmates. DESIGN--In response to an outbreak of acute clinical hepatitis B and two seroconversions to HIV infection, counselling and testing for HIV were offered to all inmates over a two week period in July 1993. Information was sought about drug injecting, sexual behaviour, and previous HIV testing. SETTING--HM Prison Glenochil in Scotland. SUBJECTS--Adult male prisoners. MAIN OUTCOME MEASURES--Uptake of HIV counselling and testing; occurrence and mode of HIV transmission within the prison. RESULTS--Of a total 378 inmates, 227 (60%) were counselled and 162 (43%) tested for HIV. Twelve (7%) of those tested were positive for antibody to HIV. One third (76) of those counselled had injected drugs at some time, of whom 33 (43%) had injected in Glenochil; all 12 seropositive men belonged to this latter group. Thirty two of these 33 had shared needles and syringes in the prison. A further two inmates who injected in the prison were diagnosed as positive for HIV two months previously. Evidence based on sequential results and time of entry into prison indicated that eight transmissions definitely occurred within prison in the first half of 1993. CONCLUSION--This is the first report of an outbreak of HIV infection occurring within a prison. Restricted access to injecting equipment resulted in random sharing and placed injectors at high risk of becoming infected with HIV. Measures to prevent further spread of infection among prison injectors are urgently required.

Cytogenetic abnormalities in a disseminated medulloblastoma.

A 3-year-old girl developed central nervous system, bone and bone marrow metastases, and hypercalcaemia shortly after presentation with medulloblastoma. Cytogenetic studies of the involved bone marrow showed multiple abnormalities including iso(17q). This chromosome rearrangement has been reported in other cases of recurrent or disseminated medulloblastoma. More studies are required relating the karyotypes of medulloblastomas to long-term outcome to determine if the presence of iso(17q) is a prognostic factor in this malignancy.

Effect of dietary calcium level on medullary bone calcium reserves and shell weight of Leghorn hens.

Two experiments were conducted to determine the effect of different levels of dietary Ca and subsequent feeding of a very low level of Ca on the medullary bone Ca reserves of laying hens. In Experiment 1, a total of 30 40-wk-old Single Comb White Leghorn hens were offered a diet with 2.5, 3.5, or 4.5% Ca for a period of 21 days with 10 birds per dietary treatment. On Day 21, five hens from each dietary treatment were euthanatized. The remaining birds were offered a .46% Ca diet for 5 days. In Experiment 2, 25 Single Comb White Leghorn hens were fed a 3.5% Ca diet for 21 days. Hens were then offered a .46% Ca diet and five hens euthanatized on Days 0, 2, 3, 5, and 7 of feeding the low-Ca diet. In Experiment 1, dietary Ca level had a significant (P less than .05) effect on total medullary Ca reserves of laying hens. Previous dietary Ca level had no significant (P greater than .05) effect upon medullary bone Ca reserves after subsequently feeding the low-Ca diet for 5 days. There was a (P less than .05) significant reduction in medullary bone Ca reserves of hens, regardless of previous level of calcium fed. In Experiment 2, feeding a low level of dietary Ca resulted in a significant (P less than .01) reduction in medullary bone Ca reserves of all bones measured, except the humerus. Although there was a significant (P less than .05) reduction in medullary bone Ca during the depletion period, hens appeared to make some attempt to conserve medullary bone Ca reserves.

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

A 2 year old girl presented with developmental delay and subtle dysmorphic features suggestive of Wolf-Hirschhorn syndrome (WHS). High resolution chromosome analysis was normal in the child and both parents. Molecular analysis indicated that the child had not inherited a maternal allele of probes from 4p16, confirming the clinical diagnosis. Prenatal diagnosis in the next pregnancy showed that again the fetus had no maternal allele for probes mapping to 4p16. Fluorescent in situ hybridisation in the mother showed a submicroscopic translocation, t(4;10). A normal karyotype in a child with clinical features of WHS is an indication for further investigation.

Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3;10)(q13.2;p14p13).

A phenotypically normal male who fathered a son with the karyotype 46,XY,del(10)(p13) was found to be a balanced carrier of an inverted insertion (3;10) (q13.2;p14p13). Karyotyping five later pregnancies showed four to be unbalanced with respect to the insertion, one of which was also trisomic for chromosome 18. The latest pregnancy was balanced with respect to insertion but had the additional complexity of 47,XXY. In the light of six out of six chromosomally abnormal pregnancies, two of which potentially exhibit an interchromosomal effect, it was decided to investigate the gametic output of the father. Testicular biopsy and semen samples were obtained permitting both meiotic and sperm chromosome analysis. Information was thus obtained at three levels of gamete production, that is, prophase I pairing, chiasma frequency distribution at metaphase I, and sperm karyotypes. Electron microscope studies of synaptonemal complexes showed the rearranged chromosomes to pair fully in meiotic prophase I with no indication of the presence of an insertion. This non-homologous pairing of the inserted region was accompanied by an abnormal frequency distribution of pachytene substages. There was also a reduction in chiasma frequency throughout the genome. However, this did not lead to detectable autosomal univalence or abnormally high X/Y univalence. Thus, the trisomy 18 and XXY pregnancies are unlikely to reflect increased non-disjunctional rates either before or during the first meiotic division. Sperm karyotyping showed that the proportion of chromosomally balanced:unbalanced gametes did not differ from the theoretically expected 1:1. There was no evidence of any increase of unrelated abnormalities in the sperm, further indicating that the overall rate of meiotic non-disjunction was not increased above normal.

A system for surveillance of voluntary HIV testing: results of the first 2 years, 1989-1990.

OBJECTIVE: In 1988, in order to improve the already established surveillance of AIDS and HIV-infected cases in Scotland, UK, the Communicable Diseases (Scotland) Unit [CD(S)U], in collaboration with microbiologists responsible for HIV testing, instituted a routine system for the epidemiological surveillance of all voluntary HIV tests. METHODS: To facilitate information capture, a standardized HIV request form was introduced for use throughout the country by clinicians requesting an HIV test. In addition, a network of laboratory computers, operated by clerical personnel, was established for the collection and collation of data. RESULTS: In 1989, of 9483 individuals tested for HIV, 129 (1.4%) were HIV-antibody-positive compared with 130 (1.2%) of 11,111 tested in 1990. A comparison of 1989 with 1990 rates of HIV among specific population groups, including injecting drug users (4.1%, 1989; 2.7%, 1990), homosexual men (5.2%, 1989; 4.5%, 1990), heterosexual men and women with high-risk partners (1.6%, 1989; 1.8%, 1990) and heterosexual men and women with lesser risk (0.3%, 1989; 0.5%, 1990), revealed no statistically significance differences at a 95% level of confidence. CONCLUSION: We believe that this surveillance system is the first of its kind to be implemented on a nationwide basis. The first 2 years' findings suggest a degree of stability in new transmissions of HIV occurring in Scotland. However, the increasing numbers of those known to be HIV-infected continue to cause considerable concern: 1943 individuals were reported to CD(S)U as HIV-antibody-positive by December 1991.

Prevalence of HIV among childbearing women and women having termination of pregnancy: multidisciplinary steering group study.

OBJECTIVE: To determine the prevalence of HIV among pregnant women, in particular those whose behaviour or that of their partners put them at "low risk" of infection. DESIGN: Voluntary named or anonymous HIV testing of pregnant women during 21 months (November 1988 to July 1990). SUBJECTS AND SETTING: All women who planned to continue their pregnancy and attended clinics serving the antenatal populations of Edinburgh and Dundee. All women admitted for termination of pregnancy to gynaecology wards serving the pregnant populations of Dundee and outlying rural areas. MAIN OUTCOME MEASURES: Period prevalence of HIV antibody positivity. RESULTS: 91% of antenatal clinic attenders and 97% of women having termination of pregnancy agreed to HIV testing on a named or anonymous basis. HIV period prevalences for antenatal clinic attenders and women having termination of pregnancy tested in Dundee were 0.13% and 0.85% respectively, and for antenatal clinic attenders tested in Edinburgh 0.26%. For those at "low risk" rates for antenatal clinic attenders and women having termination of pregnancy in Dundee were 0.11% and 0.13%, and for antenatal clinic attenders in Edinburgh 0.02%. In Dundee HIV prevalence among women having a termination of pregnancy (0.85%) was significantly greater than that among antenatal clinic attenders (0.13%). CONCLUSIONS: HIV infection is undoubtedly occurring among women at "low risk," and it is clear that a policy of selective testing of those at only "high risk" is inadequate for pregnant women living in areas of high prevalence such as Edinburgh and Dundee. Moreover, when studying pregnant populations in such areas there is the need to include those having a termination of pregnancy.

PIP: This study sought to determine the prevalence of HIV among pregnant women, in particular those whose behavior or that of their partners put them at low-risk for infection. This was a voluntary named or anonymous HIV testing of pregnant women between November 1988-July 1990 among all women who planned to continue their pregnancies and attended clinics serving antenatal populations in Edinburgh and Dundee and those women admitted for termination of pregnancy to gynecology wards serving the pregnant populations of Dundee and outlying rural areas. 91% of the antenatal clinic attenders and 97% of women having pregnancy termination agreed to HIV testing on either a named or anonymous basis. HIV period prevalences for antenatal clinic attenders and women having pregnancy termination tested in Dundee were 0.13% and 0.85% respectively, and for antenatal clinic attenders tested in Edinburgh 0.26%. For those at low-risk, the rates for antenatal clinic attenders and women having pregnancy termination in Dundee were 0.11% and 0.13%, and for antenatal clinic attenders in Edinburgh 0.02%. In Dundee, HIV prevalence among women having a termination of pregnancy (0.95%) was significantly greater than that among antenatal clinic attenders (0.13%). HIV infection is undoubtedly occurring among low-risk women and it is clear that a policy of selective testing of those only at high-risk is inadequate for pregnant women living in areas of high prevalence such as Edinburgh and Dundee. Moreover, when studying pregnant populations in such areas, there is a need to include those undergoing pregnancy termination.

Infections in British clinical laboratories, 1988-1989.

During 1988-89 this continuing survey showed 18 infections in the staff of laboratories reporting from 166 centres, representing 21,756 person-years of exposure. Shigella and other bowel infections (one caused by S typhi) predominated, affecting 11 microbiology medical laboratory scientific officers. Three shigella infections originated from quality control samples. Pulmonary tuberculosis affected four workers, including two mortuary technicians, but without detected occupational exposure to Mycobacterium tuberculosis. Other infections included one caused by Brucella melitensis. Hepatitis was not reported. The sustained low level of hepatitis is encouraging and suggests a low risk to staff of bloodborne infections such as human immunodeficiency virus.

Ethnostatistics and the AIDS epidemic.

Ethnostatistics is the study of the social practices surrounding the construction and interpretation of statistics. This paper considers certain ethnostatistical aspects of the official statistics on AIDS cases--the monthly updated figures on AIDS cases supplied by the Department of Health and derived from the English and Scottish voluntary reporting schemes. The paper focuses on problems in the classification of cases according to the route of virus transmission, particularly where multiple risk practices may be reported. Some (but not all) classification problems can be avoided by adopting a cross-tabular format of presentation. The data on reported Scottish AIDS cases are re-analysed in order to illustrate such a cross-tabular representation. These data are the basis for a concluding statement on the difficulties in projecting future heterosexual epidemic spread.