Universiteit van die Oranje-Vrystaat - SAMJ Archive Browser
Universiteit van die Oranje-Vrystaat - SAMJ Archive Browser
Universiteit van die Oranje-Vrystaat - SAMJ Archive Browser
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608 <strong>SAMJ</strong> VOL 80 7 DES 1991<br />
Die gemiddelde bipariStale maat was 8,84 cm (8-10 cm) en<br />
<strong>die</strong> kaakhoek-verteks afmeting 10,87 cm (9-13 m). Die<br />
gemiddelde geboortemassa was 3041,6 g (2500-4485 g).<br />
Gevol gtrekkings<br />
'n Onaanvaarbare vari asie in tangaffletings is gevind wat<br />
ook opvallend <strong>van</strong> <strong>die</strong> <strong>van</strong> Rhodes verskil het. Die<br />
skedel afmetings het beter by <strong>die</strong> tangafmetings <strong>van</strong> Rhodes<br />
gepas, terwyl sekere skedel afmetings groter as p1 aasl i ke<br />
tangafmetings was.<br />
CHORlONlC VIUUS SAMPLING - EXPERIENCE IN<br />
BLOEMFONTEIN.<br />
1. Diion of Human Genetics,<br />
2. Depattrnent of Obstetrics and Gynaecotogy,<br />
Medical Faculty, U.O.F.S., Bloemfontein.<br />
We report the findings in 34 pregnancies where chorionic<br />
villus sampling (CVS) was performed during the first<br />
trimester. for purposes of cytogenetic analysis. The<br />
transce~cal route for aspiration, using a Portex catheter<br />
and ultrasound guidance, was used in each case.<br />
The results will be presented from pregnancies where:<br />
a no villusmaterial was obtained (7),<br />
b] a diagnosis was not possible despite aspiration of<br />
adequate material (l), and<br />
c) abnormalities were present (2).<br />
Fwe spontaneous abortions occw~ed. Two miscarriages<br />
were associated with chromosomal abnormalities, another<br />
two due to in situ IUD, and one probably caused by the<br />
CVS procedure. No remarkable clinical complications<br />
were observed in the rest of the pregnancies.<br />
These preliminary results indicate the problem areas, as<br />
expected with such limited experience. The main<br />
ad<strong>van</strong>tages of the technique are as follows:<br />
1) it is performed in the first trimester,<br />
2) results are available within hours or days, and<br />
3) more diagnoses are possible in a given period.<br />
CLINICAL FINDINGS ASSOCIATED WITH APPARENT<br />
BALANCED RECIPROCAL 2;s TRANSLOCATION<br />
T. pearson*, A. Kruger, R.Spies, H. Halliday.<br />
Division of Human Genetics, U.O.F.S, Bloemfontein .<br />
Although unbalanced transtocations are known to give rise<br />
to clinical abnormalities, balanced resiprocal<br />
translocations are assumed not to be associated with<br />
developmental defects. We report the cytogenetic and<br />
clinical abnormalities in a patient with an apparent<br />
balanced reciprocal 2;5 translocation. The karyotype<br />
observed was 46,XXSt(2;5)(2pter + cen + 2q24 :: 5p13 +<br />
5pter; 5qter +cen+5p13 :: 2q24+ 2qter).<br />
Wrth current cytogenetic techniques, the resolution is<br />
inadequate to -exdude minor chromosomal structural<br />
imb&ances. Molecular genetic investigations are therefore<br />
indicated. .<br />
DIE BEPALING VAN NORMMLWAARDES EN 'N GEPROJEKTEERDE<br />
SIRgADIESE SEKRESIEPATROON W R &ENDORFEN<br />
Departemente FIsialogie, Chemiese Patologie, FarmakoIc&z, Universiteii <strong>van</strong><br />
<strong>die</strong> OVS, BIoemfontein en Departement Urologie, <strong>Universiteit</strong> <strong>van</strong> Pretoria,<br />
Pretoria<br />
Diedoel<strong>van</strong><strong>die</strong>stu<strong>die</strong>wasom:<br />
1. TjdgekoppeIdenonnaalagardes" vkSendorfien tebepaal<br />
2 'nV~<strong>van</strong>sirka<strong>die</strong>sesekresievirikndm&nopteJtei<br />
3. Die sekresiepatroon <strong>van</strong> Eendarfaen, so- beviild in <strong>die</strong> shlme, te<br />
vergelyk met/veranhmord teenoor <strong>die</strong> bekende sekresiepahoon <strong>van</strong><br />
kortisol<br />
Twaalf jong, normaalgesonde mans is vir 'n penode <strong>van</strong> 24 nur in <strong>die</strong><br />
eksperiment aangewend Bloedmonsters vir Bendorfienbepalings is uurliks vir -<br />
<strong>die</strong> duur <strong>van</strong> <strong>die</strong> stu<strong>die</strong> vau ellre proefpersoon bekom. Bykomstig is<br />
bloedmonsters vir kortisolbepatings om 1690, ?MO, 0490 asook 08m in<br />
vakuumbuise (sonder byvoegiugs) <strong>van</strong> vermelde pmerpersOae bekom.<br />
Piekk-trasies <strong>van</strong> R-endorfien het mgekom gedurende <strong>die</strong> tydperk 0890<br />
- 095Nl. (11.83 2 131 fmol/ml) Fluldoasies in serumkortisdkonsenhasies<br />
soos gedemonstreer in <strong>die</strong> stu<strong>die</strong>, h genohrleer. Uit <strong>die</strong> resultate <strong>van</strong> <strong>die</strong><br />
shr<strong>die</strong> wil dit voorlrom asof Eendor6en 'n sirka<strong>die</strong>se sekresiepatroon<br />
soortgelylc aan <strong>die</strong> <strong>van</strong> kortisol besit.<br />
Vermelde tendens in <strong>die</strong> sirka<strong>die</strong>se sekresiepatrmn <strong>van</strong> Sendden Sirnuleer<br />
<strong>die</strong> bekende sirka<strong>die</strong>se sekresiepatroon <strong>van</strong> kortisoL 'n Moon& verklaring<br />
vir <strong>die</strong> vergelykbare fenomeen is waa&ydk gesetel in <strong>die</strong> feit dat Sendorfien<br />
en kortikotropien uit h gemeenskaplike voorlopadstms<br />
(prepro6piomelaaokortie.n) oorsprong neem. Die sirka<strong>die</strong>se sekresiekresie@oon<br />
wat kortisol vertrmq word dear sirka<strong>die</strong>se hk@ in kortiLotrop,iensekresie<br />
OnderE.<br />
Depaaemente VIsblogie, Chemiese Patologie, Fanuakw UnivenaCit oan<br />
<strong>die</strong> OVS, Bloemfontein en Depaaement Urologie, <strong>Universiteit</strong> <strong>van</strong> Pretoria,<br />
Pretoria<br />
Uii beperkte idi&g met betrekking tot <strong>die</strong> selmsk <strong>van</strong> enkefaliene tot op<br />
he& in <strong>die</strong> literatuur beslrilrbaar, wil dit voorkom asof <strong>die</strong> enlrefaliene wel ook<br />
Stka<strong>die</strong>se fluLtnasies in sekresie wztoon.<br />
Twaalf jong, mfmaalgpsonde mans is vir 'n periode <strong>van</strong> 24 uur m <strong>die</strong><br />
ekspaiment aangewend Bloedmonsters vir letsknenkefaliehpahgs is<br />
mWrs vir <strong>die</strong> duur <strong>van</strong> <strong>die</strong> stu<strong>die</strong> <strong>van</strong> elke proefpemn bekom in<br />
vakuumbnise met EDTA (as antistolmiddel) asook Ltriptofaanhidroksamaat<br />
(as .e-r) v d bygevoeg. AUe plasmamonsters is l2<br />
weke nadat dit bekom 4 volgens 'n erkende R=-prosedme dr<br />
-<strong>van</strong>lewbdeMkngeZvalueer.<br />
Piekkomentrasies <strong>van</strong> kusienenLefalien hd voorgekom gedurende <strong>die</strong> tydperk<br />
23:W - 07:00. Trogvkklre <strong>van</strong> leusienenlcefalien het morgekom tussen m en<br />
12.00. Uii <strong>die</strong> resultate <strong>van</strong> <strong>die</strong> stu<strong>die</strong> is 'n -& <strong>van</strong> <strong>die</strong> sirka<strong>die</strong>se<br />
sekresiepatroon vir leusienenkefalien opged. Iht 1s bekend dat melatonkn<br />
onder basale om&dgMe pieksekresie tydens <strong>die</strong> nag vertoon<br />
Bovermelde. tendeme m <strong>die</strong> sirka<strong>die</strong>se dx&@roon <strong>van</strong> leusienenkefatien<br />
shnuleer oogtopend <strong>die</strong> bekende sekresiepatroon <strong>van</strong> rnelatoniea Die rede<br />
hieryoof is onduidelik en <strong>die</strong> ooreenkoms onvemags.