Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 187-190 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a large kindred in which the gene for central core disease is segregating, we have demonstrated linkage between the disorder and a marker on chromosome 19q. Marker D19S9 (p1J2) was linked to central core disease with a lod score of 6.4 at θ = 0.03 (support interval 0.01–0.14) thus localizing the gene for this disorder in or very close to 19q12–q13.2.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at –1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objective To determine the sensitivity of antenatal screening methods for neural tube defects in population-based screening in South Australia in 1986–1991, and whether ultrasound can replace serum alpha-fetoprotein screening in terms of achieving an equivalent level of sensitivity.Design and setting Ascertainment of all births and terminations of pregnancy with neural tube defects from multiple sources for 1986–1991 in South Australia. Serum and amniotic fluid alpha-fetoprotein results were obtained from the only laboratory performing the tests as a Statewide antenatal screening programme, and information on ultrasound screening from case notifications, hospital case records and medical practitioners who cared for the women.Subjects All 243 births and terminations of pregnancy with neural tube defects in South Australia in 1986–1991.Main outcome measures The sensitivity of individual screening methods and of all methods used, particularly for spina bifida.Results For pregnancies with neural tube defects screened by any method (serum alpha-fetoprotein, ultrasound or amniocentesis), 86YO sensitivity was achieved. Ultrasound screening for anencephaly achieved 100 % sensitivity even in low risk pregnancies, compared with 92 % for serum alpha-fetoprotein. For spina bifida, the sensitivity of ultrasound screening increased with the level of risk in pregnancy: it was 60% in low risk pregnancies, which was equivalent to that of serum alpha-fetoprotein screening (64%); 89% in high risk pregnancies and 100% for women referred for confirmation of a suspected spina bifida by another ultrasonographer (×12 for trend = 23.49, P 〈 0.0001). Ultrasound screening in high risk pregnancies for spina bifida achieved higher sensitivity in teaching hospitals compared with other ultrasound services in the State (97%vs 65%), but sensitivity was equivalent for low risk pregnancies. It is estimated that, had the serum screening programme not been in place, the level of sensitivity achieved for spina bifida by ultrasound and amniocentesis would have been 62% compared with the actual situation of 76% with the programme in existence, a difference of nearly 15% (95% CI 2.5 to 267) (×12= 5.45, P= 0.02).Conclusions Antenatal screening for neural tube defects in South Australia achieved a higher level of sensitivity with the maternal serum alpha–fetoprotein programme in place. We conclude that the serum screening programme should continue in South Australia pending a significant improvement in the sensitivity of routine ultrasound screening for spina bifida.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objectives To describe the impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South Australia, and to identify factors associated with a re-emerging problem.Design and Methods A population-based descriptive study using data from South Australian notifications of disease, births and terminations of pregnancy, the rubella immunisation programme, antenatal rubella antibody screening and paediatric hospital case records.Setting South Australia (population 1.48 million people; 20,000 births per year).Main outcome measures Incidence of rubella (age-sex specific), congenital rubella syndrome and rubella-related terminations of pregnancy; antenatal rubella sero-positive rates; rubella immunisation uptake rates.Results Rubella notification rates in 1990–1996 were significantly higher for males than females for ages 15–34 years. There were five cases of congenital rubella syndrome notified in 1980–1996 compared with at least 20 confirmed or compatible cases in 1965–1979. Rubella-related terminations of pregnancy are now rare, with the last termination for maternal rubella being in 1993. The antenatal rubella sero-positive rate in 1995 was 96.7%, but was significantly lower among Asian women born overseas (78.6% among those 30 years or older). Vaccination uptake rates in schoolgirls decreased between 1990 and 1994 (91.2% to 86.9%).Conclusions Since the introduction of rubella immunisation, the incidence of rubella infection among women of reproductive age, and of rubella-related terminations, has fallen. Congenital rubella syndrome has not been notified since 1990 but its risk persists with a recent increase in rubella notifications, a fall in school immunisation rates, a relatively low antenatal sero-positive rate among older Asian women born overseas and the trend towards giving birth at older ages. Effective immunisation programmes must be maintained, particularly in schools and for young children and migrant women.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objectives To describe the impact of maternal serum screening on the birth prevalence of Down's syndrome and on the use of amniocentesis and chorionic villus sampling in South Australia.Design A descriptive population-based study.Setting South Australia (population 1.48 million persons; approximately 20,000 births per year).Participants Women who had births or terminations of pregnancy with Down's syndrome in 1982–1996, women who had maternal serum screening in 1991–1996, amniocentesis or chorionic villus sampling in 1986–1996.Methods Analysis of data from multiple sources on maternal serum screening, amniocentesis and chorionic villus sampling, births and terminations of pregnancy.Main outcome measures Total prevalence and birth prevalence of Down's syndrome each year in 1982–1996; proportion of pregnant women using maternal serum screening in 1991–1996, and proportion using amniocentesis and chorionic villus sampling by indication in 1986–1996, by age group.Results Use of maternal serum screening for Down's syndrome increased from 17% when introduced in 1991 to 76% of women who gave birth in 1996. Between 1982 and 1986 and 1996, terminations of pregnancy for fetal Down's syndrome increased from 7.1% to 75% and the birth prevalence of Down's syndrome fell by 60% from 1.05 to 0.42 per 1,000 births, against the background of an increase in total prevalence due to increasing maternal age. The use of amniocentesis increased from 5.8% in 1991 to 10.1% in 1996 mainly due to the increase among women younger than 35 years with maternal serum screening as the main reason. The increasing chorionic villus sampling rate among younger women stabilised at 0.4%, while the rate among older women decreased from 11.0% to 7.4%.Conclusions The introduction of maternal serum screening in South Australia has resulted in increased use of any prenatal testing for Down's syndrome from about 7% (mainly older women having amniocentesis or chorionic villus sampling) to 84% of women (about 8% having direct amniocentesis or chorionic villus sampling and 76% having maternal serum screening first). This has resulted in a significant fall in the birth prevalence of Down's syndrome, maternal serum screening was the first indication of Down's syndrome for about half the terminations of pregnancy for Down's syndrome in 1993–1996, including three quarters of those in younger women.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of α–actinin and actin. We have identified a missense mutation in the α–tropomyosin gene, TPM3, which segregates completely with the ...
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1573-7217
    Keywords: breast cancer screening ; hereditary breast cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This multicenter study assessed breast cancer screening uptake in 461 unaffected women at increased risk of developing breast cancer on the basis of family history who approached familial cancer clinics for advice about surveillance options. At the time of attending the clinic, 89% and 90% of participants were vigilant with respect to age- and risk-specific recommendations for mammography and clinical breast examination, respectively, and 51% reported practicing breast self-examination monthly or more frequently. The degree to which health outcomes are perceived to be under one's personal control (χ2=−2.09, p=0.0037) and breast cancer anxiety (χ2=8.11,p=0.044) were both associated with monthly or more frequent breast self-examination, while there were no associations with sociodemographic characteristics. A significantly lower percentage (56%) of women aged 〈30 were vigilant with respect to mammography recommendations, compared to 77%, 96% and 98% of women aged 30–39, 40–49 and 〉50, respectively (χ2=37.2,p〈0.0001). These relatively low rates of mammographic screening in young women may reflect concerns about increased cancer risk associated with early and repeated radiation exposure or lack of sensitivity in young women with radiographically dense breasts. If mammographic screening is ultimately shown to lower mortality in women at high risk, there will be a strong case to promote screening in young women. The need for regular mammographic screening would then need to be highlighted and reinforced amongst young women and their referring physicians. Awareness amongst general practitioners, who are largely responsible for referral to screening services, would also need to be increased.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Chromosome research 7 (1999), S. 553-556 
    ISSN: 1573-6849
    Keywords: chromosome 16 ; FRA16B ; fragile sites ; homozygote
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Homozygotes for the rare folate-sensitive autosomal fragile sites have never been recorded. Two non-folate-sensitive rare fragile sites (FRA10B and FRA17A) have been previously recorded in normal individuals. We document two unrelated normal individuals who are homozygotes for the rare fragile site FRA16B and record the patterns of induction of this fragile site with berenil. The existence of normal homozygotes for FRA16B suggests that this fragile site is not within a gene essential for normal development.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Two abnormal metabolites, 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid, have been identified and quantitated in the urine of a child with propionic acidemia. These metabolites may be produced as a result of the self-condensation of propionyl-CoA. Data are presented to show that the unusual ketone, 3-pentanone, which has been observed previously in the urine of patients with propionic acidemia, is produced as a result of the decarboxylation of 3-keto-2-methylvaleric acid.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: The urinary extract of a child investigated because of strabismus was found to contain large amounts of a compound which was identified using gas chromatography/mass spectrometry as 2-deoxyerythropentono-1,4-lactone. This lactone has not been observed previously in urinary extracts. When ion-exchange chromatography was used to isolate the organic acids from urine, the major peaks obtained by gas chromatography were shown to be 2-deoxyerythropentonic acid, 2-deoxyerythropentono-1, 5-lactone and 2-deoxyerythropentono-1,4-lactone. Another abnormal metabolite, 2-deoxyribitol, was also excreted by the patient although this compound could not be detected in the urine of normal children. It is proposed that these unusual compounds accumulate in the urine of this child as a result of a defect in the catabolism of 2-deoxyribose.
    Additional Material: 9 Ill.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...