Biomedical subjects

Uta Nennstiel-Ratzel

Publications and source records attributed to Uta Nennstiel-Ratzel.

6 recordsLinked to original sources

PubMed2006

[Evidence and evaluation in health promotion and prevention: the example of the health promotion initiative "healthy living in Bavaria"].

BACKGROUND: The use of evidence and evaluation is rapidly gaining importance in the field of health promotion and prevention. The evidence base, evaluation methods as well as the capacity and required competencies among practitioners are still being developed. AIMS: Beyond its specific health-related targets, the health promotion initiative "Healthy Living in Bavaria" aims to integrate the use of evidence and evaluation as key components into project funding as part of a total quality management concept. Another objective is the creation of new evidence for the field of health promotion and prevention. APPROACH: A core element of the quality management concept is the initiative's multistage evidence and evaluation model which embraces the initiative as a whole as well as the individual projects. The model is operationalized through a set of matching instruments for application, reporting, evaluation, and appraisal. CONCLUSION: Nationally as well as internationally, evidence and evaluation stand out as central aspects of quality improvement instruments in health promotion and prevention. Characteristic of Bavaria's quality improvement approach is the seamless process from the application to the evaluation under consideration of scientific as well as pragmatic aspects.

Germany↗

PubMed2005

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD.

Acyl-CoA Dehydrogenase↗

PubMed2005

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent inherited defect of fatty acid oxidation, with a significant morbidity and mortality in undiagnosed patients. Adverse outcomes can effectively be prevented by avoiding metabolic stress and following simple dietary measures. Therefore, prospective newborn screening (NBS) is being proposed for this condition. However, technical validation of MCADD population screening and assessment of its overall benefit require broadening of the as-yet-scarce knowledge of the MCADD genetic heterogeneity unraveled by NBS and its phenotypic consequences. Here, we describe the entire spectrum of sequence variations occurring in newborns with MCADD in the population of Bavaria, Germany, in relation to the biochemical phenotype. Among 524,287 newborns, we identified 62 cases of MCADD, indicating a birth incidence of 1 in 8,456. In all of the 57 newborns available for analysis, two alterations within the MCADD gene (ACADM) were identified. The most prevalent alteration c.985A>G (Lys329Glu) occurred in 27 (47%) newborns in the homozygous and in 18 (32%) in the heterozygous state (63% of defective alleles). The mild folding variant c.199T>C (Tyr67His) was identified in nine individuals, six of them being compound heterozygous with c.985A>G (Lys329Glu). Neither of the prevalent alterations were found in the remaining nine newborns. A total of 18 sequence variations were identified; 13 of them were novel: eight missense mutations, one nonsense mutation, two splice variants, and two small deletions. The remaining five were previously reported in MCADD patients. The ACADM heterogeneity uncovered was larger as anticipated from previous c.985A>G (Lys329Glu) carrier screening data. In addition, we show that MCADD appears to occur as frequently in Turkish newborns as in the native German population. Our data validate that biochemical NBS for MCADD is a highly specific procedure for disease detection, with the identification of a significant share of milder biochemical phenotypes, such as c.199T>C (Tyr67His). These show statistically lower acylcarnitine markers, allowing us to distinguish subgroups within the spectrum of ACADM sequence variations that correlate to biochemical MCADD disease expression. Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening.

Acyl-CoA Dehydrogenase↗

PubMed2003

Data required for the evaluation of newborn screening programmes.

Tandem mass spectrometry offers the chance to improve newborn screening (NBS) for phenylketonuria and to expand screening programmes at minimal additional costs. So far, however, there are only limited data available on the incidence of a broader range of disorders presently being considered, their natural course, the benefits achievable and potential harm associated with screening. Based on a literature search and experience from the Bavarian extended screening trial, these questions are addressed using medium-chain acyl-CoA dehydrogenase deficiency (MCADD) as an example. The data retrieved are sufficient for estimation of the incidence of MCADD cases identifiable by NBS and for diagnosis following clinical symptoms. Clinically detected cases ascertained by active surveillance in populations with highly developed and freely accessible health care systems consistently amount to only 33% of those identified by NBS. This difference cannot be explained by the difference in the proportion of the homozygous 985A-->G mutation, which accounts for about 50% of cases identified in NBS. Further research is needed to assess the contribution of MCADD to unexplained deaths in infancy. Retrospective cohort studies enrolling at least 500,000 children would allow for a more precise estimate of the natural course of disease in particular with regard to less severe adverse outcomes. The most relevant gap in knowledge concerns the long-term outcome of children identified following symptoms and by newborn screening. Since randomised controlled trials are unlikely to be feasible on this issue, a standardised documentation protocol should be implemented in follow-up studies for cases identified either by high risk screening or newborn screening. A proposal for the content of such observational studies is made.

Acyl-CoA Dehydrogenase↗

PubMed2002

Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

OBJECTIVES: In Bavaria, Germany, an expanded MS-MS-based newborn screening program was implemented in 1999. The coverage of new additional conditions and novelty of technology required introduction of written parental consent. Here we evaluated the influence of the consent procedure on compliance by systematic demographic tracking. METHODS: Comprehensive information was provided for parents, professionals, and the public. Screening notifications were matched with all birth notifications on name and date of birth. Parents of children without screening notification were contacted and counseled. RESULTS: Between August 1, 1999, and July 31, 2000, 123,284 children eligible for screening were born. Of these, 116,652 were matched successfully. Among 6,632 parents contacted, 2,516 (2%) did not respond. Three thousand thirty-four children were screened but the parents initially refused to participate in tracking. Five hundred ninety-four were screened outside the program. Four hundred eighty-eight untested newborns were identified. Three hundred twenty-five screening failures due to logistic problems were tested subsequently. Screening was definitely refused by the parents of 163 children (0.1% of target population). CONCLUSIONS: With appropriate information provided and surveillance by tracking, high compliance with newborn screening can be achieved despite a written consent requirement.

Adult↗

PubMed2002

Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.

OBJECTIVES: Expansion of newborn screening programs may increase the risk of missing cases through procedural failures. A coordinated process quality assurance procedure to track recalls was, therefore, introduced in parallel to expansion (including MS-MS and 17alpha-OHP) in Bavaria. METHODS: Using comprehensive computerized registration and automated monitoring a state-funded center coordinated all individual measures to achieve complete testing of all repeat requests-case-specific contacts to physicians, midwives, and parents. Mailing and phoning from the center were supplemented by local public health activities including home visits if needed. RESULTS: Among 243,422 children tested in 1999 and 2000 overall recall was 3.62% (8,809 children): 0.30% (726) were due to sample inadequacy, 1.35% (3,282) to early sampling (<48 h), and 1.97% (4,801) to abnormal results. Of all recalls, 80.9% were received following the initial request, 1,679 (19.1%) required special efforts. Of these, 873 were achieved following a single and 601 following repeated central activities, and 102 were achieved following local support. Sixty-three cases of parental refusal and 47 untraceable children remained. Altogether, 98.8% recalls were achieved, corresponding to 99.96% of all tested children for which definite screening results could be obtained. CONCLUSIONS: Expansion of newborn screening programs does not necessarily mean unsolvable problems in tracking of recalls if adequate logistics is established in parallel.

Germany↗