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This paper describes the tragic case of a young woman who died of cancer of
the colon after successfully donating eggs to her younger sister. Although
there is no direct link between her operation and the subsequent
development of bowel carcinoma, this case imparts a feeling of unease when
seen in conjunction with other cases reported during the last few years. It
is a reminder that little is known of the long-term consequences of some
aspects of assisted conception. Women undergoing ovarian stimulation for
themselves or a matched recipient have the right to be advised, in an
agreed format, that there is some concern about unproven potential risks
from the stimulatory drugs. The safety of egg donors must assume priority
over all other considerations, including lack of donors or any moral
position. The recent decision by the Human Fertilisation and Embryology
Authority (HFEA) to withdraw any form of payment or recompense to egg
donors does not seem to us to be based on a balance of scientific advances,
patient needs and the ethics of gamete supply. They state that the
intention to withdraw payments was implicit in the 1990 Human Fertilisation
and Embryology (HFE) Act. However the Act was based on the Warnock report
made 6 years earlier. Even in 1990 ovum donation was uncommon and fertility
drugs had not yet caused any unease. The Act provided the HFEA with
discretionary powers to issue directions so that the future policies would
be consistent with any emerging new medical evidence. It is imperative that
the HFEA provide convincing evidence on how the current policy of payment
to donors harms society, donors or recipients, and how in the UK the new
policy will improve medical practice in assisted conception. Successful
pilot studies must precede the implementation of any new policy. Failure to
do this could cause irreversible harm to the practice of assisted
conception using donor gametes, which will ultimately be against the basic
aims of the 1990 HFE Act.
相似文献
6.
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism 总被引:3,自引:0,他引:3
Baron J; Winer KK; Yanovski JA; Cunningham AW; Laue L; Zimmerman D; Cutler GB Jr 《Human molecular genetics》1996,5(5):601-606
Parathyroid hormone secretion is negatively regulated by a 7- transmembrane
domain, G-protein coupled Ca(2+)-sensing receptor. We hypothesized that
activating mutations in this receptor might cause autosomal dominant
hypoparathyroidism (ADHP). Consistent with this hypothesis, we identified,
in two families with ADHP, heterozygous missense mutations in the
Ca(2+)-sensing receptor gene that cosegregated with the disorder. None of
50 normal controls had either mutation. We also identified a de novo,
missense Ca(2+)-sensing receptor mutation in a child with severe sporadic
hypoparathyroidism. The amino acid substitution in one ADHP family affected
the N-terminal, extracellular domain of the receptor. The other mutations
involved the transmembrane region. Unlike patients with acquired
hypoparathyroidism, patients with these mutations had hypercalciuria even
at low serum calcium concentrations. Their greater hypercalciuria
presumably reflected activation of Ca(2+)-sensing receptors in kidney
cells, where the receptor negatively regulates calcium reabsorption. This
augmented hypercalciuria increases the risk of renal complications and thus
has implications for the choice of therapy.
相似文献
7.
C Brassett J A Joyce N J Froggatt G Williams D Furniss S Walsh R Miller D G Evans E R Maher 《Journal of medical genetics》1996,33(12):981-985
Hereditary non-polyposis colorectal cancer syndrome (HNPCC) is often considered to be the most common form of inherited colorectal cancer, although its precise incidence is unknown. The clinical diagnosis of HNPCC relies on a combination of family history and young age of onset of colorectal cancer, but as many familial aggregations of colorectal cancer do not fulfil the strict diagnostic criteria, HNPCC might be underdiagnosed. The majority of HNPCC families have germline mutations in mismatch repair (MMR) genes, such as MSH2 or MLH1, so that HNPCC cancers characteristically exhibit DNA replication errors (RERs) at microsatellite loci. Although an RER positive phenotype in tumours can also result from somatic mutations in an MMR gene, the prevalence of RER + tumours should provide a maximum estimate of the incidence of germline MMR gene mutations in patients with early onset and familial colorectal cancer. We investigated colorectal cancers for RERs from (1) a population based study of 33 patients with colorectal cancer aged 45 years or less, (2) 65 kindreds with familial colorectal cancer which only partially fulfilled the criteria for the diagnosis of HNPCC, and (3) 18 cancers from 12 HNPCC kindreds. Seven of 33 patients (21%) with colorectal cancer aged 45 years or less had an RER + cancer, with only two of these having a clear family history of HNPCC. A greater proportion of RER + tumours (5/7) occurred proximal to the splenic flexure than RER - tumours (4/26; chi2 = 6.14, p < 0.025). RERs were detected in all 18 cancers from HNPCC patients but in only six of 65 non-HNPCC familial colorectal cancer kindreds (9%; chi2 = 52.2, p < 0.0005). These findings suggest that most cancers in patients diagnosed at 45 years of age or less and familial aggregations of colorectal cancer which do not fulfil HNPCC diagnostic criteria do not have germline mutations in MSH2 and MLH1. Hence population screening for germline mutations in these genes is unlikely to be an efficient strategy for identifying people at high risk of developing colorectal cancer. 相似文献
8.
Needle biopsy of renal allografts: comparison of two techniques 总被引:2,自引:0,他引:2
Bogan ML; Kopecky KK; Kraft JL; Holladay AO; Filo RS; Leapman SB; Thomalla JV 《Radiology》1990,174(1):273-275
Two techniques for renal allograft biopsy were retrospectively evaluated to compare relative safety and efficacy. After ultrasound (US) localization of the kidney and biopsy with a hand-held 14-gauge cutting needle, an adequate specimen was obtained in 74 of 77 cases (96%). Major complications occurred in six of these 77 cases (8%). One hundred four biopsies were performed by using a smaller 18-gauge cutting needle with a spring-loaded biopsy "gun" and real-time US guidance. With this newer technique, specimens adequate for diagnosis were obtained in 99 biopsies (95%). There was a single major complication with this technique (1%). The 18-gauge needle with real-time US guidance yields comparably adequate specimens with a lower frequency of complications. 相似文献
9.
Bourke JP Gray J Hilton CJ Furniss SS Khan S McComb JM Campbell RW 《The Annals of thoracic surgery》1999,67(2):404-410
BACKGROUND: In unselected patients, cardiac failure accounted for most deaths after antiarrhythmic operation (ER) for postinfarction ventricular tachycardia (VT). This study aimed to determine whether patients at low risk of this outcome could be predicted from a retrospective analysis of variables from 100 consecutive ER patients. METHODS: Thirteen variables suggested by other researchers as predictive of outcome were analyzed. At the time of study, ER was the only therapy available for drug refractory VT. RESULTS: Only emergency ER, wall motion score less than 3 and Killip classification were significantly related to death from cardiac failure. The lack of correlation between emergency ER and variables of ER timing, VT less than 24 hours of ER or VT type implies that the need for emergency ER is also related to ventricular dysfunction. Multivariate analysis identified a group at particularly low risk of death with a specificity of 95%. CONCLUSIONS: Patients at low risk of death after ER can be identified prospectively. In the implantable cardioverter defibrillator era, elective ER is best reserved for such patients. Emergency ER may still be justified in younger patients without comorbidity who will die of VT without it. 相似文献
10.
Mouton CP Rovi S Furniss K Lasser NL 《Journal of women's health & gender-based medicine》1999,8(9):1173-1179
This study examined the association of domestic violence (DV) with the general physical and mental health of older women. This pilot cross-sectional survey studied 257 women, aged 50-79, who came for screening visits to the Observational Study arm of the Women's Health Initiative's (WHI) Newark, NJ, site between June 1995 and August 1996. A 27-item, interviewer-administered questionnaire was used to detect DV. To measure overall health status, we used questions from the Medical Outcomes Study Short Form 36. Of the 257 women interviewed, 82 (31.9%) had experienced DV at some point in their life; 51 (22.6%) had been threatened, and 31 (15%) had experienced physical assault. Women who were either physically assaulted or threatened had lower mental component summary (MCS) scores (50.0 versus 53.7). Women who had only been threatened had a mean MCS score of 49.7 compared with 53.8 for nonthreatened women. Both of these MCS scores indicate poorer mental health. DV, which about 1 in 4 women experience over their lifetime, has a negative relationship to health status. Women who have experienced DV have lower MCS scores than those who have not. They also tend to have lower physical component summary scores. These findings suggest the importance that detection and prevention of DV have for women's health. 相似文献