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51.
52.
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia 总被引:1,自引:0,他引:1
J Zschocke CA Graham FJ Stewart DJ Carson NC Nevin 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):37-38
In the first phase of the Northern Ireland PKU Study, we used automated sequencing to identify the spectrum of mutations in a random group of 32 unrelated phenylketonuria (PKU) families. We also investigated 7 Northern Irish patients with mild hyperphenylalaninaemia not requiring dietary intervention (MHP, previously referred to as non-PKU HPA). Disease-causing mutations were identified on all 78 investigated chromosomes. We found 23 different mutations, including 20 missense, 1 nonsense and 2 splice site mutations. All mutations were located within exons or at intronexon boundaries of the phenylalanine hydroxylase gene. Seven mutations occurred at CpG sites, confirming these sites as mutation hot-spots in PKU. Mutations R408W and I65T are the two commonest PKU mutations in the Northern Irish population. Two mutations (T380M and V245A) can be characterized as MHP mutations; they are quasi dominant markers for MHP since they cause mild hyperphenylalaninaemia even when occurring in conjunction with the most severe PKU mutations. The results have proven valuable for the development of a routine PKU mutation analysis system in Northern Ireland. 相似文献
53.
Deary AJ; Seaton JE; Prentice A; Morton NC; Booth AK; Smith SK 《Human reproduction (Oxford, England)》1997,12(7):1494-1496
Our objective was to evaluate the effect of a change in treatment
protocols, suggested following an inspection visit by the regulatory
authority, from single to double inseminations during donor insemination
treatment cycles. We therefore conducted a retrospective audit of pregnancy
rates in the reproductive medicine clinic of a major teaching hospital. All
patients were treated for male factor infertility by donor insemination,
without ovulation induction with gonadotrophins between October 1992 and
December 1995. The main outcome measures were cumulative conception and
live birth rates. During the study period 250 patients underwent treatment
and 650 single insemination and 277 double insemination treatment cycles
were undertaken. The pregnancy rate per cycle was 0.054 and 0.119 for
single and double insemination respectively. After six cycles the
cumulative pregnancy rates were 0.28 and 0.47 and the take-home baby rates
were 0.25 and 0.37 for single and double inseminations respectively. The
change in practice from single to double insemination resulted in a
doubling of the pregnancy rate per treatment cycle. Cumulative pregnancy
rates after two treatment cycles of double insemination were comparable
with those achieved after six cycles of single insemination. These results
have significant implications for both patients and purchasers.
相似文献
54.
Yates JR; van Bakel I; Sepp T; Payne SJ; Webb DW; Nevin NC; Green AJ 《Human molecular genetics》1997,6(13):2265-2269
We have investigated a family in which three siblings with the autosomal
dominant disorder tuberous sclerosis had unaffected parents. The family
were typed for polymorphic markers spanning the two genes known to cause
tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers
showed different maternal and paternal haplotypes in affected children,
excluding a mutation in TSC1 as the cause of the disease. For the TSC2
markers all the affected children had the same maternal and paternal
haplotypes, as did three of their unaffected siblings. Mutation screening
by RT-PCR and direct sequencing of the TSC2 gene identified a 4 bp
insertion TACT following nucleotide 2077 in exon 18 which was present in
the three affected children but not in five unaffected siblings or the
parents. This mutation would cause a frameshift and premature termination
at codon 703. Absence of the mutation in lymphocyte DNA from the parents
was consistent with germline mosaicism and this was confirmed by our
finding of identical chromosome 16 haplotypes in affected and unaffected
siblings, providing unequivocal evidence of two different cell lines in the
gametes. Molecular analysis of the TSC2 alleles present in the affected
subjects showed that the mutation had been inherited from the mother. This
is the first case of germline mosaicism in tuberous sclerosis proven by
molecular genetic analysis and also the first example of female germline
mosaicism for a characterized autosomal dominant gene mutation apparently
not associated with somatic mosaicism.
相似文献
55.
Follistatin and activin A in extra-embryonic coelomic and amniotic fluids and maternal serum in early pregnancy 总被引:2,自引:0,他引:2
Riley SC; Balfour C; Wathen NC; Chard T; Evans LW; Groome NP; Wallace EM 《Human reproduction (Oxford, England)》1998,13(9):2624-2628
Follistatin is a specific binding protein which controls bioavailability of
activins and inhibins which have an important role in fetal development. In
the first trimester of pregnancy bioactive dimeric inhibins are found at
high concentrations in the extra- embryonic coelomic fluid, but the
distribution of follistatin and activins is not known. We have used
recently developed immunoassays for follistatin, activin A and activin AB
to determine their presence in the intrauterine compartments during early
pregnancy. Follistatin was present in highest concentrations in the
extra-embryonic coelomic fluid (11.72 +/- 1.70 ng/ml; median +/- SEM), with
less in maternal serum (6.35 +/- 4.58) and lowest amounts in amniotic fluid
(0.97 +/- 0.52). Follistatin concentrations in extra-embryonic coelomic
fluid were highly correlated with both dimeric inhibin isoforms. Activin A
was present in only barely detectable amounts in some samples of extra-
embryonic coelomic fluid (41% of samples) and maternal serum (26%) and was
undetectable in all amniotic fluid samples. Activin AB was undetectable in
all compartments. The presence of follistatin in the amniotic and
extra-embryonic coelomic fluids may regulate the availability of bioactive
activins and inhibins which are released into the intrauterine compartments
during the development of the fetus and placenta in early pregnancy.
相似文献
56.
57.
58.
L Alder SJ Mercer NC Carter SK Toh BC Knight 《Annals of the Royal College of Surgeons of England》2021,103(3):180
IntroductionThe UK has an ageing population with an increased prevalence of frailty in the over 70s. Emergency laparotomy for acute intra-abdominal pathology is increasingly offered to this population. This can challenge decision making and information given to patients should not only be based on mortality outcomes but on relative expected quality of life and change to frailty syndromes.Materials and methodsThis was a single site National Emergency Laparotomy Audit (NELA)-based retrospective cohort audit for consecutive cases in the septuagenarian population assessing mortality, length of stay outcome and subjective postoperative functioning. Follow-up was conducted between one and two years postoperatively to determine this.ResultsSome 153 patients were identified throughout the single site NELA database. Median age was 79 years with a ratio of 1.7 men to women. Median rate of all-cause mortality was 35.3% at the median follow-up of 19 months. Median time from admission to death was 120 days. Of those who had died by the time of follow-up, significant preoperative indicators included clinical frailty scale (p < 0.0001), preoperative P-POSSUM (mortality). At follow-up, 35% responded to a quality of life follow-up. This revealed a decline in mid-term physical functioning, lower energy, higher fatigue and reduction in social functioning. There was also an increase in pre- and postoperative clinical frailty scale score.ConclusionIn the septuagenarian-plus population it is important to consider not only risk stratification with mortality scoring (P-POSSUM or NELA-adjusted risk), but to take into account frailty. Postoperative rehabilitation and careful recovery is paramount. Where possible, during the counselling and consent for emergency laparotomy, significant postoperative long-term deterioration in physical, emotional and social function should be considered. 相似文献
59.
60.
MARJORIE R. JENSEN RN BSN CAPT. USAF NC ROBERT E. HARRIS MD PhD FACOG COL. USAF MC 《Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG》1977,6(5):9-12
Realistic efforts should be made to quantitatively determine patient care given by labor and delivery nursing personnel. In an effort to accurately evaluate staffing requirements, the total patient population utilizing the labor and delivery room was analyzed. Of the 1,281 patients receiving treatment or evaluation, 453 were nondelivered patients (36%) who were not recorded in the average census. These nondelivered patients were analyzed according to their diagnoses. Suggestions are given on which more realistic nursing staffing can be based. 相似文献