Browsing by Author "Van Niekerk, W. A."

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    'n Analise van sitogenetiese studies op 2 334 pasiente
    (HMPG, 1979-06) Retief, A. E.; Kotze, G. M.; Fox, M. F.; Venter, P. A.; Van Zyl, J. A.; Van Niekerk, W. A.
    The chromosome results of a series of 2 334 patients referred for cytogenetic analysis during 1966-1977 were tabulated by computer. The patients were grouped according to indications for referral, the main indications being amenorrhoea, congenital abnormalities, infertility and sex abnormalities. Among the patients with amenorrhoea, the largest percentage of chromosome abnormalities (28%) occurred in the group of 86 cases of primary amenorrhoea, whereas the percentage of chromosome abnormalities in the group of 113 secondary amenorrhoea patients was only 3.5. Of 615 patients with congenital abnormalities, 345 were referred for Down syndrome, of whom 64.6% had an abnormal chromosome constitution with extra chromosome 21 material. In the remainder of patients with chromosome abnormalities, trisomy 13 and trisomy 18 featured, although not all were referred as clearcut cases of Patau's or Edward's syndrome, the respective corresponding phenotypes. The incidence of chromosome abnormalities among patients with congenital abnormalities not typical of the above mentioned three syndromes was low (8.4%), with diverse chromosome constitutions. Among the infertile patients, 70 had azoospermia and 185 had oligozoospermia. The incidence of chromosome abnormalities within the two groups was 11.4% and 8.1% respectively. Of the 233 patients referred with sex abormalities, the highest proportion of chromosome abnormalities was found among those with Turner's and Klinefelter's syndromes. In these two classes 10 patients had a 45,XO or abnormal X chromosome constitution and 6 had 47,XXY karyotypes respectively. Another group of cases was classed among miscellaneous indications for referral. Of 61 amniotic fluid samples for prenatal diagnosis, there were 2 cases of trisomy 21. Of 154 male and female patients with a history of repeated miscarriages, 2.6% had chromosome abnormalities. Of a group of 62 patients with myelo- and lymphoproliferative disorders whose blood and/or bone marrow samples were included, 7 had chromosome abnormalities. Among 61 mentally retarded patients referred, 3 had mosaic chromosome constitutions. In every case a normal cell line was present. No chromosome abnormalities were found in 23 patients with retarded growth. 88 spontaneous and 19 ectopic abortusses showed 10.5% and 10.2% chromosome abnormalities respectively. Relatives of the original index patients were found to have chromosome abnormalities in 7.3% of cases, in most instances a rearrangement corresponding to that of the index patient. The significance of the observed abnormalities in this group of 2 334 individuals, when pooled, is discussed. The distribution of the chromosome abnormalities was 81% autosomal (largely as a result of chromosome 21) and 19% sex chromosomal. Additionally, 80% of all abnormalities were numerical and 20% were structural chromosome abnormalities in both autosomes and sex chromosomes.
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    Clinical and cytogenetic aspects of the 21 deletion syndrome
    (Health and Medical Publishing Group (HMPG), 1975) Gericke, G. S.; Steyn, M. F.; Retief, A. E.; Thom, J. C.; Van Niekerk, W. A.
    The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniques. Cases presumably arise through somatic non disjunction or chromosome breakage. When the chromosomes of both parents are normal the recurrence risk is negligible.
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    Probleme met betrekking tot genetiese voorligting vir arthrogryposis multiplex congenita
    (Health and Medical Publishing Group (HMPG), 1975) Gericke, G. S.; Retief, A. E.; Van Niekerk, W. A.
    Arthrogryposis multiplex congenita (AMC) is a rare condition, which presents various problems to the genetic counsellor. Two cases are described and the possible modes of inheritance are discussed. A review of the literature in this respect favours an autosomal recessive inheritance which is, however, not applicable to all cases.
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    Treatment of vaginal candidiasis in pregnancy with a single clotrimazole 500 mg vaginal pessary
    (Health & Medical Publishing Group, 1984) Lindeque, B. G.; Van Niekerk, W. A.
    A single vaginal pessary containing clotrimazole 500 mg (Canesten; Bayer-Miles) was used to treat candidiasis during a prospective, mycologically controlled trial among 46 patients in the second and third trimesters of pregnancy. Positive cultures were obtained from vaginal swabs before commencement of treatment. Swabs were taken 1 week and 1 month after treatment. Four patients were lost to follow-up. One week after treatment 83.3% of the patients were cured on microscopic and mycological examination, and all of the patients had relief of symptoms. The recurrence rate was 5.7% after 1 month. Of the 7 patients in whom treatment was unsuccessful, 3 were available for repeat treatment and all 3 responded successfully to a second course.
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    Die waarde van histeroskopie as ginekologiese ondersoekprosedure
    (Health & Medical Publishing Group, 1981) Cronje, H. S.; Street, B.; Van Niekerk, W. A.
    There is a worldwide interest in the use of hysteroscopy in the practice of gynaecology. For this reasons a prospective study has been undertaken on 168 randomly selected patients admitted to the gynaecological wards to evaluate its usefulness. Pre- and postmenopausal abnormal uterine bleeding were the main indications for evaluating these patients. The picture obtained by hysteroscopic examination was carefully correlated with the histopathological diagnosis in each case. In only 7% of cases the hysteroscopic diagnosis differed from that obtained by histological examination of the endometrium. In 1,8% of cases a hysteroscopic investigation could not be done because of active intra-uterine bleeding. Hysteroscopy could be performed as successfully under paracervical block as under general anaesthesia. The conclusion reached was that hysteroscopy is a most important adjunct in the investigational armamentarium of a gynaecologist.