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Biomedical subjects

I Nippert

Publications and source records attributed to I Nippert.

11 recordsLinked to original sources
PubMed2003

Cancer genetics service provision: a comparison of seven European centres.

OBJECTIVE: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. METHODS: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. RESULTS: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70-90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. CONCLUSION: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.

Breast Neoplasms↗
PubMed2001

Problems reported by elderly patients with multiple sclerosis.

Multiple sclerosis (MS) is one of the most common organic neurological diseases of the central nervous system. Because of improved therapies, nurses are confronted with elderly MS patients, but little is known about the specific problems of these patients. This survey analyzed problems in elderly MS patients. Fifty-three MS patients (44 female, 9 male; average age 73 years, average course of MS 25.3 years) from the Berlin Section of the German Multiple Sclerosis Association were evaluated by using a standardized questionnaire, considering social situation, daily problems, disease course, and disabilities, and by using the expanded disability status scale (EDSS). Elderly MS patients reported impaired mobility and inability to use public transportation; about 96% presented EDSS scores above 6.0. Nearly 50% complained about spasticity and pain due to spasticity. More than 70% suffered from bladder dysfunction. Problems with sleep and fatigue were present in less than 20%, but interrupted sleep was common. Selfcare impairments were reported by 50%-75% of the patients, and most of them required professional help. Depressive moods and thoughts about committing suicide were mentioned by more than 30% of the patients. Elderly MS patients experience physical and psychosocial impairments. Healthcare professionals should consider increasing independence and avoiding nursing home admissions in the management of elderly MS patients.

Activities of Daily Living↗
PubMed1998

Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.

Over the past 9 years we counseled 55 couples whose unborn child was found to carry a sex chromosome polysomy. We performed a survey of postcounseling parental decisions about continuation or termination of these pregnancies. Of the 55 embryos or fetuses, 23 had the karyotype 47,XXY, 10 had 47,XYY, and 12 had 47,XXX. In addition, there were 10 instances of true mosaicism, i.e. 47,XXY/46,XY (n = 5), 47,XYY/46,XY (n = 2), or 47,XXX/46,XX (n = 3). Mean gestational age (+/-standard deviation) at diagnosis was 18.3+/-3.0 weeks. After comprehensive genetic counseling 48 (87.3%) of these pregnancies were carried to term. In seven cases (12.7%) the parents elected a pregnancy termination. Two of 31 pregnancies (6.5%) primarily ascertained at our center were aborted, whereas amongst the 24 referred cases, 5 couples (20.8%) opted for a termination. The mean gestational age of the terminated pregnancies was 19.7 weeks. The overall termination rate of 12.7% appears low in comparison with literature data. Most reports from other institutions present termination rates between 32 and 66%. The reason for the low rate of induced abortions in our study cohort is not clear. Cultural differences in parental perception of sex chromosomal polysomies may be of importance, and peculiarities of genetic counseling at our institution could also play a role. Although counseling was nondirective, we did put emphasis on providing prospective parents with information from unbiased follow-up studies of children with Klinefelter syndrome and other sex chromosome polysomies.

Abortion, Induced↗
PubMed1994

Counselling following diagnosis of fetal abnormality: a comparison between German, Portuguese and UK geneticists.

The principle of non-directiveness in genetic counselling is embraced by all relevant professional bodies. Little is known about the extent to which it is endorsed by geneticists, or incorporated into their clinical practice. The aim of the current study is to document how geneticists in three European countries, Germany, Portugal and the UK, report counselling women at risk for having children with a range of conditions. While geneticists in all three countries reported counselling in a largely non-directive style, this varied both across genetic conditions and between countries. German and Portuguese geneticists were significantly more directive than UK geneticists, although they differed in the way in which they were directive. German geneticists were more likely to encourage continuation of pregnancies, while Portuguese geneticists were more likely to encourage termination of affected pregnancies. There was no strong consensus on approaches to counselling for any of the genetic conditions, defined as agreement between 70% of all three groups of geneticists. Despite strong professional codes of non-directiveness, geneticists report being somewhat directive in some counselling situations. Future research needs to focus on what geneticists are trying to achieve in genetic counselling, how they actually counsel, and with what effects.

Abortion, Induced↗