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  • 1
    Electronic Resource
    Electronic Resource
    Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies (1989)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 96 (1989), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False-positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non-mosaic false-positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false-negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1989.tb03280.x
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  • 2
    Electronic Resource
    Electronic Resource
    Risks of midtrimester amniocentesis; assessment in 3000 pregnancies (1985)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 92 (1985), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. The obstetric outcome of 3000 pregnancies with midtrimester amniocentesis was followed in all but one patient. Thirty pregnancies ended in fetal death or abortion within 3 weeks after amniocentesis. Chronologically 23 of these occurred in the first series of 1500 pregnancies and the remaining seven fetal deaths/abortions within 3 weeks after amniocentesis occurred in the second series of 1500 pregnancies. Fetal loss within 3 weeks after amniocentesis was apparently related to the experience of the obstetrician and to the use of modern ultrasound guidance. It is concluded that the risk of fetal death after midtrimester amniocentesis is approximately 0.5%, if only experienced obstetricians using modern techniques are involved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1985.tb03049.x
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  • 3
    Electronic Resource
    Electronic Resource
    AMNIOTIC FLUID ALPHA-FETOPROTEIN LEVELS AND THE PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS: A COLLABORATIVE STUDY OF 2180 PREGNANCIES IN THE NETHERLANDS (1978)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 85 (1978), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Amniotic fluid alpha-fetoprotein (AFP) concentrations were measured in 2180 patients at risk of fetal abnormality because of previous history, family history, advanced maternal age, suspected fetal growth retardation and hydramnios. In 12 patients investigated before 20 weeks gestation, pregnancy was terminated because of a raised amniotic fluid AFP-level: 11 fetuses had neural tube defects (NTDs) and one had a congenital nephrosis. There were no false negative results in the 1927 patients tested before 20 weeks and with a pregnancy of known outcome. In patients tested after 20 weeks, the amniotic fluid AFP concentration was raised in 20 cases of anencephaly, in 9 fetuses with severe congenital malformations without NTD and in one apparently normal fetus. Of 428 patients with a previous offspring who had a NTD, only 8 (1.9 per cent) again had a fetus with a NTD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1978.tb15625.x
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  • 4
    Electronic Resource
    Electronic Resource
    Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 131-140 
    Details
    ISSN: 1432-1076
    Keywords: Cerebral gigantism ; Sotos syndrome ; Growth ; Somatomedin ; Cranial CT scan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.2–2.8 in the 1st year of life, followed by a fall to 2.0 in the 2nd year. Thereafter the SDS increased slowly to values of 3.0 at 10 years of age. At least two subjects have reached an exceptionally tall final stature. After the age of 2 years, Δ SDS/year remained very stable (−0.1–0.2), concurring with growth velocities in the upper normal range. Bone age was advanced in all patients. Cranial CT scans showed ventricular widening, mid-line cava and Sylvian anomalies in nine, six, and three patients respectively. SM-act dropped from high or normal values in the 1st year, to below normal from 1–5 years, and returned thereafter to the lower half of normal or below the normal range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451898
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  • 5
    Electronic Resource
    Electronic Resource
    SOD-A and chromosome 21 (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 220-223 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A balanced maternal chromosome translocation (9p24;21q214) resulted in two offspring with unbalanced karyotypes. One of these, a girl trisomic for both segment 9pter→9p24 and segment 21pter→21q214, was found to have a SOD-A activity not significantly different from those found in a group of five cases with trisomy 21. However, clinical evaluation of this girl revealed no symptoms of the Down syndrome. These findings suggest that, providing the gene dosage theory is correct, the gene for SOD-A is probably localized on chromosome 21 proximal to, or in, band q21.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282029
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  • 6
    Electronic Resource
    Electronic Resource
    ‘Complete’ trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 271-278 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brimblecombe et al. (1977) and by Opitz and Patau (1975) is suggestive for a distinct clinical syndrome if (almost) the complete short arm of chromosome 5 is present in a trisomic state. Unfortunately the clinical findings in the case of Brimblecombe (1966, 1977) are poorly documented. The main features of this syndrome are: macrocephaly, psychomotor retardation, hypotonia, postnatal growth failure, tracheobronchial involvement, mongoloid slant of the eyes, epicanthus, low-set ears, depressed nasal bridge, short first toe, and seizures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273310
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    Paper (German National Licenses)
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