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Biomedical subjects

C Gosden

Publications and source records attributed to C Gosden.

At least 37 records · Page 2Linked to original sources
PubMed1986

Prevalence of the fragile X syndrome in an institution for the mentally handicapped.

In an investigation to find the prevalence of the fragile X (Martin Bell) syndrome in a mental handicap hospital, chromosomal investigations were carried out in 196 males selected out of a total of 512, and also in 20 female patients who were related to some of the selected males. Fragile X cells were found in 41 of the males and two of the females; in 21 of the males it was associated with macro-orchidism. The overall prevalence in the hospital for males (8.0%) ranks this syndrome next in importance to Down's syndrome as a known cause for mental handicap.

Adult↗
PubMed1985

Fetal blood chromosome analysis: some new indications for prenatal karyotyping.

Prenatal karyotyping using stimulated fetal blood lymphocytes was undertaken in 170 pregnancies between 16 and 36 weeks gestation for the following reasons--mosaicism or marker chromosomes found in amniotic fluid culture; a family history of X-linked mental retardation with fragile Xq28; fetal abnormalities detected ultrasonographically; late booking or amniotic fluid culture failure in patients with advanced age or balanced translocations; and twin pregnancies discordant for a chromosomal anomaly. Forty-one karyotypic abnormalities were detected (24%). These were: 45,X (7 cases), trisomy 13 (5 cases), trisomy 18 (6 cases), trisomy 21 (4 cases), twin pregnancy where one twin had trisomy 21 (1 case), supernumerary marker chromosome (3 cases, one of which occurred in a twin pregnancy), triploidy (3 cases), X-linked mental retardation with fragile site at Xq28 in males (6 cases), fetal erythroleukaemia (3 cases including 2 cases with Turner's), Fanconi's anaemia (1 case), unbalanced chromosome translocation 47,XY+der22,t(11;22) mat (1 case), mos 46,XX18p-/46,XX,-18+i(18q) (1 case), 46,XXdel(2q) (1 case), and 46,XYt(5;17) de novo (1 case). In fetuses at high risk of a chromosome aberration, a rapidly obtained karyotype is helpful and fetoscopy and fetal blood sampling are justified in the second or third trimester.

Amniotic Fluid↗
PubMed1984

Immunoreactive trypsin and the prenatal diagnosis of cystic fibrosis.

Immunoreactive trypsin (IRT) was measured by radioimmunoassay in a series of amniotic fluids obtained at between 15 and 19 weeks from pregnancies with a 1-in-4 risk of fetal cystic fibrosis. IRT concentrations were significantly depressed in nine affected pregnancies, but the degree of overlap with the normal range was too great for this to be useful in early prenatal diagnosis. Furthermore, in one fetus, presumed to have cystic fibrosis, the fetal plasma IRT concentration was within the normal range.

Amniotic Fluid↗
PubMed1983

Microvillar peptidase activity in amniotic fluid: possible use in the prenatal diagnosis of cystic fibrosis.

The activities of two microvillar peptidases, gamma-glutamyl transpeptidase (GGTP) and aminopeptidase M (APM), have been measured in 132 samples of mid-trimester amniotic fluid. These included samples from 16 pregnancies at risk for cystic fibrosis. The activities of both peptidases were significantly below the normal range in amniotic fluids from the 6 affected pregnancies. This points to early pathological changes in fetal tissues in which microvilli are prominent. In contrast, 4-methylumbelliferylguanidinobenzoate-reactive protease activity in amniotic fluid from the 6 affected pregnancies was normal. Correlation of individual values between GGTP and APM was close in all cases examined, so that when a further 7 samples from cases at risk became available they were tested for GGTP alone. Of these, the 3 affected pregnancies had significantly reduced GGTP activity, particularly in the early weeks of gestation. It is suggested that early amniocentesis and examination of gamma-glutamyl-transpeptidase isoenzyme constitution might make possible the reliable early diagnosis of cystic fibrosis.

Aminopeptidases↗
PubMed1982

Intrauterine contraceptive devices in diabetic women.

11 of 30 (36.6%) insulin-dependent diabetic women fitted with intrauterine contraceptive devices (IUCDs) became pregnant within 1 year, whereas the pregnancy rate for non-diabetic women fitted with the same types of IUCD by the same consultant gynaecologists over a similar time period was 4 per 100 women years (4%). As soon as the high risk was recognised, devices were removed (2 from diabetic women who were pregnant and 19 from non-pregnant diabetic women), and patients were advised about other methods of contraception. The IUCDs were examined in a scanning electron microscope with X-ray microprobe analysis to measure the amount of copper eroded from the wire, the extent of the encrustation (if any) deposited on the wire, and the composition of the deposit, and the data were compared with those for 111 devices removed from non-diabetic women, 40% of the IUCDs from diabetic women had sulphur and chloride in the deposit, compared with 15.3% of IUCDs from normal women, and fewer IUCDs from diabetic women had calcareous deposits. In devices from normal women, erosion and deposition seemed to occur independently, but in IUCDs from diabetic women, there was high erosion, there were also large deposits, and where there was little deposit, the erosion was slight. 7 of 14 IUCDs taken from normal women who had become pregnant with an IUCD in situ had a high sulphur plus chloride deposit; none of these IUCDs had a predominantly calcareous deposit compared with 19.8% of the IUCDs from non-pregnant normal women. The evidence militates against the insertion of IUCDs in diabetic patients and indicated that, even in non-diabetic women, there may be small groups for whom the risk of becoming pregnant is very high.

Adult↗
PubMed1981

Prenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.

Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities were found--four constitutional anomalies (47,XXY; 47,XYY; an inherited inv(8) (p23q11); and a de-novo translocation t(6;7) (p11;p22) and a culture-derived anomaly (trisomy 2) found in amniotic fluid cells but not in the fetus aborted because it had spina bifida. Of the pregnancies complicated by constitutional abnormalities, only the pregnancy in which the de-novo translocation was detected was terminated. No chromosome abnormalities were detected in the 17 pregnancies which miscarried after amniocentesis. These results provide little justification for including fetal karyotyping as an essential part of maternal serum alpha-fetoprotein screening programmes.

Adult↗
PubMed1981

Prenatal diagnosis of exstrophy of the cloaca.

While screening for neural tub defects, three cases of exstrophy of the cloaca were found through elevated second-trimester maternal serum alphafetoprotein levels. Measurement of amniotic fluid alphafetoprotein and examination of the structure of rapidly adhering cells confirmed the abnormalities, and the pregnancies were terminated. Subsequent studies of cholinesterase isozymes by acrylamide electrophoresis showed an abnormal acetylcholinesterase band in each of the three amniotic fluids. During the same period, two more cases of exstrophy of the cloaca were identified in spontaneous abortions and another one in a stillbirth. It is suggested that the condition is more common than has been previously suspected and is often misclassified as omphalocele.

Acetylcholinesterase↗
PubMed1979

The state of the device and copper levels in the products of conception in women becoming pregnant with a copper-bearing IUD in situ.

Of the 8 pregnancies studied, 2 were of small gestational sacs with blighted ova and were associated with devices in which the copper wire had very high detectable X-ray emissions for copper (greater than 90%). In 2 other pregnancies intrauterine deaths had occurred by the time of termination at 13 and 17 weeks and copper levels in the products of conception were variable. There was no abnormality of the fetus in the term pregnancy but it seems possible that copper can affect the early growth and development of the embryo. On only 1 of the 8 devices was any great amount of calcium deposited and it is therefore considered unlikely that calcium deposition increases the risk of pregnancy by preventing the release of copper.

Adult↗
PubMed1978

Amniotic fluid cell morphology in early antenatal prediction of abortion and low birth weight.

The morphology of rapidly adherent (RA) amniotic fluid cells was examined in 201 pregnant women referred for amniocentesis because of two sequential high serum alpha-fetoprotein (AFP) concentrations. Out of 43 amniotic fluid samples containing increased amounts of AFP, 42 had neural or peritoneal cells predominating among the RA cells, the outcome being an infant with a neural-tube defect or exomphalos. In the other case with a raised amniotic fluid AFP concentration but only anterior placental cells the infant was normal. In 25 amniotic fluid samples containing normal amounts of AFP distinctive new patterns of RA cells were observed, termed fetal distress cells. These pregnancies resulted in five spontaneous abortions and 20 infants with birth weights under 2500 g. Fetal distress cells were not detected in any of the remaining 133 samples. One pregnancy was terminated because of a chromosomal abnormality, and there were seven twin pairs not recognised on ultrasonography before amniocentesis. The remaining 125 pregnancies went to term, resulting in infants with birth weights exceeding 2500 g. The results suggest that RA-cell morphology will prove to be of value in the early antenatal prediction of spontaneous abortion and low birth weight.

Abortion, Spontaneous↗
PubMed1978

The fate of DNA satellites I, II, III and ribosomal DNA in a familial dicentric chromosome 13:14.

In a family with a stable dicentric 13:14 translocation chromosome, the distribution of DNA sequences complementary to satellite DNAs I, II and III and ribosomal RNA were studied. The translocation chromosome showed a loss of sequences complementary to all three satellite DNAs, located in the short arms of the acrocentric chromosomes, but slightly more of the sequences complementary to satellite I were retained than of the other two satellite DNAs. The fact that material was lost from all three satellites indicates that they are not present as single discrete blocks in these chromosomes, when we would expect to find the distal sequences lost and the proximal ones retained, but consist of interspersed blocks with each sequence represented by more than one, and probably several blocks. There was a total loss of ribosomal DNA from the nucleolar organiser regions of the chromosomes involved in the 13:14 translocation, but an interesting finding was the presence of extra ribosomal DNA and satellite DNAs I, II and III in one chromosome 22 which was found in seven out of nine individuals of the family with the 13:14 translocation, and in only one of five individuals without the translocation. There may be a compensatory mechanism present when certain sequences are elminated during chromosomal rearrangements. The relationship of such mechanisms to reproductive fitness is discussed.

Base Sequence↗
PubMed1978

Combined use of alphafetoprotein and amniotic fluid cell morphology in early prenatal diagnosis of fetal abnormalities.

The combined use of alphafetoprotein (AFP) measurement and amniotic fluid cell morphology was assessed in 217 pregnancies with normal outcome (including 12 where an anterior placenta was traversed), and 52 where there was a fetal defect (25 cases of anencephaly, 21 of open spina bifida, 2 of exomphalos, 2 of urogenital atresia, and 2 of intrauterine death). In each case maternal serum and amniotic fluid AFP was measured. Total, viable, and rapidly adherent cells were counted and amniotic fluid cell morphology was examined. On the basis of this experience a scheme is suggested for more precise antenatal diagnosis of fetal abnormalities.

Amniotic Fluid↗
PubMed1977

Intrauterine deposition of calcium on copper-bearing intrauterine contraceptive devices.

Copper-bearing intrauterine contraceptive devices (IUDs) removed after various times in utero were examined by scanning electron microscopy and x-ray microanalysis of the elements present. As time in utero increased these devices became increasingly calcified. This calcification may limit the release of copper from the devices and decrease the specific contraceptive effectiveness of copper over an enert plastic device. Conversely, any teratogenic effects attributable to the copper may decrease with time in utero and depend on the extent of calcification. Even though the amount of copper in the device is not significantly diminished after two years, devices should not remain in situ for over two years because calcium accumulation probably prevents further diffusion of copper. Calcification can begin as early as six months after insertion. Consequently a careful review of the amount of time a copper-containing IUD should be left in situ should be undertaken.

Abnormalities, Drug-Induced↗
PubMed1977

The origin of the rapidly adhering cells found in amniotic fluids from foetuses with neural tube defects.

The number and morphologies of cells rapidly adhering to glass (RA cells) found in amniotic fluids from foetuses with neural tube defects is independent of soluble factors in the supernatant fluid. Cells taken directly from brain and spinal cord of normal foetuses, which are rapidly adherent in culture, show numerous similarities to those RA cells which are present in the amniotic fluids of foetuses with neural tube defects. This suggests that RA cells in amniotic fluid may be reliably used as a diagnostic marker of foetal lesions involving neural tissue, in particular spina bifida and anencephaly. Other RA cells extracted from foetal peritoneal cavity and bone marrow also have distinctive morphologies and may be useful in early antenatal diagnosis of congenital defects such as exomphalos.

Amniotic Fluid↗