Max Noether

Life and work of the mathematician Max Noether (1844-1921)

Uptake of genetic counselling services by patients with cystic fibrosis and their families

Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing hospital-based genetic counselling services.Method: The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics, School of Pathology, University of the Witwatersrand, and the National Health Laboratory Service (NHLS) in Johannesburg, were retrospectively reviewed from 1990 to 2006, the year when hospital-based genetic counselling services were introduced.Results: Parents of CF probands were the largest single group (35%) of counsellees. Most individuals (66%) attended genetic counselling to gather information. Most had been referred by medical specialists (56%). Only 10% of referrals originated from general practitioners. On average, from 1990-2005, six families received genetic counselling annually, whereas in 2006, 58 families were seen. In 140 unrelated families, 1 991 relatives with carrier risks of . 25% were identified. Only 11% of these relatives underwent mutation testing, and eight per cent received genetic counselling through our division over the review period.Conclusion: Overall, referrals of family members (of affected CF  individuals) to genetic counselling, by general practitioners, are poor. Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics, than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern, since these relatives are at high risk of having affected children, if their partners are CF carriers. Education of affected individuals, their close relatives, and medical practitioners, should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF, and other genetic conditions

M\u27M M\u27M M\u27M Mazie

https://digitalcommons.library.umaine.edu/mmb-vp/3805/thumbnail.jp

Population trajectory and stressors of Acropora palmata sites in the Florida Keys

The decline of elkhorn coral, Acropora palmata, has been ongoing for decades, but the causes of decline and the resulting population status continue to be topics of study. Past efforts to categorize stressors have ranged from spatially and/or temporally focused efforts that detect local stressors but may miss broader patterns to meta-analyses that identify large-scale trends but may not account for finer-scale variability. We here conduct an analysis of sites surveyed across five years (2010-2015) and much of the Florida Reef Tract in order to look at large-scale patterns while also accounting for site, habitat, seasonal, and annual variability. Through fate-tracking across nine sites, we assess trends in total tissue amount, fragmentation and fragment survival, and prevalence and severity of stressors. Acute stressors included severe bleaching events and spikes in disease prevalence, while chronic stressors were dominated by corallivorous snail predation. Four of nine survey sites experienced near total declines in population over the survey period, but the timing and cause of each differed, even among sites within a few kilometers of each other. There were notable differences in the prevalence and severity of stressors between forereef and backreef sites. We conclude that generalizing the population trajectories and stressors of A. palmata can misrepresent the conditions at individual sites. We also conclude that the forereef and backreef environments examined here differ in their stressors, and that habitat should be identified as a variable of interest in assessing A. palmata trajectories. We use this information to speculate that the remaining population of A. palmata within Dry Tortugas National Park may have survived as a result of its unique backreef geography

Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?

Background. Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian cancer syndrome (HBOCS) have been identified.Objectives. To investigate the uptake and type of molecular testing performed on patients for HBOCS, to determine the prevalence of the three Afrikaner founder BRCA mutations as well as non-founder BRCA mutations in the study population, and to analyse the utility of two mutation prediction models (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and Manchester scoring method) in assisting with the decision for the most cost-effective testing option.Methods. A retrospective file review was performed on counsellees of self reported Afrikaner ancestry from Johannesburg, SA (2001 - 2014), with a personal or family history of breast and/or ovarian cancer. Demographic and family history information was recorded and Manchester and BOADICEA scores were calculated for each patient.Results. Of 86 unrelated counsellees whose files were reviewed, 54 (62.8%) underwent BRCA genetic testing; 18 (33.3%) tested positive for a mutation, and 14 of these (77.8%) for an Afrikaner founder mutation. Twelve counsellees had the BRCA2 c.7934delG mutation. Four non-founder mutations were identified. BOADICEA scores were significantly higher in counsellees who tested positive for a mutation than in those who tested negative.Conclusions. Founder mutation testing should be performed as a first-line option. BOADICEA is very useful in identifying counsellees at high risk for a BRCA mutation and also assists with the decision to pursue further testing following a negative founder mutation result. These findings assist in guiding an informed genetic counselling service for at-risk individuals with an Afrikaner background