20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

Background/aimAlthough cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center.Materials and methodsThe records of 8363 amniocenteses, 626 chorionic villus, and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events. ResultsThe number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21–25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36–40, 5 times higher in 41–45 and 10-fold in 46–50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant.ConclusionThese data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.     

Epidemiological features of drug resistant tuberculosis in Harare, 1994 to 1996

OBJECTIVES: To characterise the prevalence, clinical and radiological features of drug resistant tuberculosis in selected patients with pulmonary tuberculosis in Harare between 1994 and 1996. DESIGN: A retrospective review of medical and microbiological records. SETTING: Beatrice Road Infectious Diseases Hospital, Harare, Zimbabwe. SUBJECTS: 381 smear-positive tuberculosis patients who had samples submitted to the National Tuberculosis Reference Laboratory for culture and susceptibility testing. MAIN OUTCOME MEASURES: Prevalence of resistance of isolated cultures of Mycobacterium tuberculosis to anti-tuberculosis drugs; clinical, radiological and microbiological response to treatment with recommended anti-tuberculosis regimens. RESULTS: Resistance to one or more drugs was detected in 16 isolates (16/165, 9.7%), single drug resistance in five (3.0%) and resistance to two or more drugs in 11 (6.7%). There were no distinctive clinical or radiological features of drug-resistant tuberculosis, although a higher percent of drug resistant cases had evidence of pleural disease (25% vs 2.5%, p = 0.005). Neither past history of tuberculosis or known or suspected HIV infection was associated with the presence of drug resistance. CONCLUSIONS: In spite of the resurgence of tuberculosis and the high prevalence of HIV infection in Zimbabwe, the rates of drug resistance have remained relatively low, even among a selected population at high risk of resistance. A significant proportion of cases of drug-resistant tuberculosis appear to be due to new transmission of drug resistant strains, which reinforces the importance of maintaining a surveillance system for the monitoring of drug susceptibility. Ongoing prospective studies should provide more reliable estimates of the prevalence and determinants of drug resistance in Zimbabwe.     

An activity sampling study of primary care staff of two Harare polyclinics

As part of an exercise in which clinical operations were examined, an activity sampling study was carried out at the primary care units of 2 polyclinics in Harare, Zimbabwe. 1 clinic served a population of 59,791 in a newly developed area, receiving 187,240 primary care visits, 90,830 of which were initial visits. The other clinic, situated in a more established area, served a population of 23,546, experiencing 47,705 initial primary care visits out of a totsl of 148,912 visits in 1983. The work measurement technic involved making instantaneous observations of staff member activities. 7 consecutive days were spent by the research team at each of the clinics, observing the activities of state registered nurses (SRNs), medical assistants (MAs), clinic orderlies (upgraded literate domestic workers given in-service training), and maids. 50 observation times were randomly selected daily between 7:30 a.m. and 4:00 p.m. from Monday to Friday; and 33 random times between 7:30 a.m. and 1:00 p.m. on Saturdays and Sundays. The study found that at the clinic where MAs were engaged more in consulting patients, the SRNs and sister-in-charge had more time to supervise and administer staff, and screen patients (they spent 12.4% of their time in administration, as opposed to the other clinic, where they spent 2.3%). It is suggested that increasing the delegation of duties to the MAs can improve clinic operations.     

Imaging of follicular dendritic cell tumours of the liver

Follicular dendritic cell tumour of the liver is a recently recognized entity. To date, only two cases have been described, both in the pathology literature. Histologically, it resembles an inflammatory pseudotumour and immunohistochemical and ultrastructural studies are required for its diagnosis. The ultrasound, computed tomography and angiographic features of two cases of follicular dendritic cell tumour of the liver are described in detail. One of the patients had multiple recurrences of this tumour. The imaging features are very similar to those of hepatocellular carcinoma. As follicular dendritic cell tumour is considered to be of low-grade malignant potential, in contrast to the dismal prognosis for hepatocellular carcinoma, it is important to be able to accurately distinguish between the two types of tumour prior to initiating definitive therapy.