Abstract
In June 2015, the state of Victoria, Australia retrospectively opened its sperm and egg donors’ records, becoming only the second jurisdiction in the world to do so and the first where ...substantial pre-legislative records are available and stored in a central register. The new legislation gave donor-conceived adults and donors who were conceived or donated under conditions of anonymity (ie prior to 1988) the right to apply to the state’s Central Register for each other’s identifying information, which is released to them if the subject of the application consents. Between the introduction of the law and its further amendment in March 2017, more than 100 applications were made. Through a thematic analysis of donor-conceived adults’ and donors’ Statements of Reasons – a written document applicants were required to complete when they applied – the article explores applicants’ motivations for applying, the information they sought, and their goals with regard to contact. The study found that most applicants were driven by curiosity and a desire for personal information about the other party. They also expressed a strong desire to meet and have an ongoing relationship with the subject of their application. The study also revealed an unanticipated desire on the part of previously anonymous donors for information about their offspring, suggesting future research could explore the emotional needs of donors in greater depth.
A growing number of lesbians and gay men are choosing to become parents. In response, provincial parentage laws have become increasingly inclusive of same-sex parents, though the presumption ...underlying most of the reforms is that queer parenting will adhere to a nuclear family model. The effect of this preference for the nuclear family is that queer parents who engage in non-normative arrangements continue to find themselves outside the law. Perhaps most vulnerable are gay men, particularly in situations where they co-parent with a lesbian couple. This article uses the recent decisions of the Alberta Court of Queen's Bench and Court of Appeal in 'D.W.H. v. D.J.R'. to illustrate the challenges facing nonnormative queer families and gay male parents in particular. It argues that even in provinces with recent parentage law reforms, deviation from the nuclear family norm poses serious risks for queer parents.
The objective of this study was to provide fisheries researchers with a cost-effective solution to estimate the weight of a particular fish species from the hypothesis that length and weight are ...strongly correlated. The aim was to estimate the weight from a given length through a length–weight relationship/regression equation. Length–weight (L–W) regression equations were derived for ten of the most common fish species and two cyprinid hybrids encountered in Irish lakes and rivers (brown trout, salmon, roach, perch, eel, Arctic char, bream, pike, rudd, tench, roach x bream hybrids and roach x rudd hybrids) from an extensive dataset of approximately 228,000 individual fish over a ten-year period between 2005 and 2014. The data was collected during routine Inland Fisheries Ireland monitoring programmes from lakes and rivers across Ireland. The dataset of the three most abundant species on lakes and rivers was categorised into three alkalinity groups for further accuracy. Significant relationships were found between length and weight for all ten fish species and two cyprinid hybrids in all water body types, showing that length is a significant predictor of weight and the findings are reflective of other studies, making this a strong tool for estimating weight.
The development of an antibody in people with hemophilia to products used in the treatment and prevention of bleeding, also referred to as an inhibitor, is the most serious complication of hemophilia ...care today. CDC, together with healthcare providers, consumer organizations, hemophilia organizations, and federal partners, has developed a public health agenda to prevent the development of inhibitors. This paper describes a public health approach that combines a national surveillance program with epidemiologic, laboratory, and prevention research to address knowledge gaps in rates and risk factors for inhibitor development, and in knowledge and behaviors of patients and providers, in addition to screening and treatment practices.
•A systems approach can help to broaden our understanding of falls prevention amongst patients with dementia.•Hospital falls training programmes can incorporate systems thinking into the educational ...process.•Current falls interventions will benefit from the use of a systems approach.
Falls are a frequent event among older adults with dementia during their hospital stay. This qualitative study explores the factors contributing to falls in this population using a systems perspective.
Semi-structured interviews were conducted with 32 carers of patients with dementia and 20 hospital staff who worked on medical wards. Interview transcripts were analysed thematically using a systems framework.
The themes generated from this falls research were factors related to the: patient (e.g. their physical health), carer (e.g. their ability to re-call a patient's past medical history), staff (e.g. teamwork), hospital policies (e.g. transfer of patients between wards), the hospital environment (e.g. lack of observation side rooms for infectious patients who are at risk of falls on some wards) and the use of hospital equipment (e.g. walking aid).
We recommend that future hospital falls intervention programmes need to be supported by a credible systems approach aiming to improve patient outcomes in relation to falls prevention.
▸ An ecological classification tool for fish in Irish lakes has been developed. ▸ Lake typology has been defined, based on alkalinity and maximum depth. ▸ Two separate classification models are used ...to produce classifications. ▸ Qualitative classification using discriminant analysis rules. ▸ Quantitative classification using a generalised linear model with associated confidence intervals.
A classification tool suitable for establishing the ecological status of lakes based on fish population parameters has been developed for the Republic of Ireland and Northern Ireland (EU Water Framework Directive Ecoregion 17). A lake typology relevant to fish populations in lakes from Ecoregion 17 was produced as part of the ecological classification tool development. Four lake types were determined based on fish metrics and abiotic variables from 43 “reference” lakes. The specific lake fish typology categorised lakes into low (≤67CaCO3mgL−1) or high (>67CaCO3mgL−1) alkalinity, and shallow (≤17m) or deep (>17m) maximum depth. The fish in lakes classification tool (FIL2) follows a novel multimetric predictive approach, assigning ecological status to a lake using two independent methods. FIL2 qualitatively defines a lake's ecological status based on fish metrics using discriminant classification rules and, using a generalised linear model, quantitatively derives an Ecological Quality Ratio (EQR, 0<EQR<1), along with associated confidence intervals. It is recommended that both methods are used to validate output and cross-check and highlight potential misclassification.
To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the molecular characterization rate, gene ...prevalence, and mutational spectrum in the largest European cohort reported to date.
A total of 258 unrelated Spanish families with a clinical diagnosis of RP and suspected autosomal dominant inheritance were included. Clinical diagnosis was based on complete ophthalmologic examination and family history. Retrospective and prospective analysis of Spanish adRP families was carried out using a combined strategy consisting of classic genetic techniques and next-generation sequencing (NGS) for single-nucleotide variants and copy number variation (CNV) screening.
Overall, 60% of our families were genetically solved. Interestingly, 3.1% of the cohort carried pathogenic CNVs. Disease-causing variants were found in an autosomal dominant gene in 55% of the families; however, X-linked and autosomal recessive forms were also identified in 3% and 2%, respectively. Four genes (RHO, PRPF31, RP1, and PRPH2) explained up to 62% of the solved families. Missense changes were most frequently found in adRP-associated genes; however, CNVs represented a relevant disease cause in PRPF31- and CRX-associated forms.
Implementation of NGS technologies in the adRP study clearly increased the diagnostic yield compared with classic approaches. Our study outcome expands the spectrum of disease-causing variants, provides accurate data on mutation gene prevalence, and highlights the implication of CNVs as important contributors to adRP etiology.
Drawing on the rarely heard voices of Canada's lesbian mothers, Transforming Law's Family explores the legal dimensions of planned lesbian parenthood and proposes avenues for legal change.
Purpose
We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), to assess genotype–phenotype correlations and to ...establish an accurate diagnostic algorithm after 23 years of data collection.
Patients and Methods
Two hundred patients were analysed through a combination of denaturing gradient gel electrophoresis, single‐strand conformation polymorphism, genotyping microarray and Sanger sequencing of the RHO gene.
Results
Overall, 42 of 200 Spanish adRP families were mutated for RHO (21.0%). Twenty‐seven different RHO mutations were detected; seven of them were novel. A genotype–phenotype correlation was established with clinical data from 107 patients. The most prevalent p.Pro347Leu mutation, responsible for 4.5% (9/200) of all mutated adRP families, was associated with a phenotype of early onset and severe course diffuse RP.
Conclusions
This retrospective study provides a wide spectrum of mutations in the RHO gene in Spanish patients with adRP. Also, the prevalence of mutations is similar to that reported in European population. Genotyping microarray followed by RHO sequencing is proposed as a first step in molecular diagnosis of adRP Spanish families. An increasing understanding of causal RHO alleles in adRP facilitates disease diagnosis and prognosis, especially for the prevalent p.Pro347Leu mutation.
PDF
