Strategies for screening for familial hypercholesterolaemia in primary care and other community settings.

BACKGROUND: Familial hypercholesterolaemia is a common inherited condition that is associated with premature cardiovascular disease. The increased cardiovascular morbidity and mortality, resulting from high levels of cholesterol since birth, can be prevented by starting lipid-lowering therapy. However, the majority of patients in the UK and worldwide remain undiagnosed. Established diagnostic criteria in current clinical practice are the Simon-Broome and Dutch Lipid Clinical network criteria and patients are classified as having probable, possible or definite familial hypercholesterolaemia. OBJECTIVES: To assess the effectiveness of healthcare interventions strategies to systematically improve identification of familial hypercholesterolaemia in primary care and other community settings compared to usual care (incidental approaches to identify familial hypercholesterolaemia in primary care and other community settings). SEARCH METHODS: We searched the Cochrane Inborn Errors of Metabolism Trials Register. Date of last search: 13 September 2021. We also searched databases (Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE, PubMed, Embase, CINAHL, Web of Science, and SCOPUS) as well as handsearching relevant conference proceedings, reference lists of included articles, and the grey literature. Date of last searches: 05 March 2020.  SELECTION CRITERIA: As per the Effective Practice and Organisation of Care (EPOC) Group guidelines, we planned to include randomised controlled trials (RCTs), cluster-RCTs and non-randomised studies of interventions (NRSI). Eligible NRSI were non-randomised controlled trials, prospective cohort studies, controlled before-and-after studies, and interrupted-time-series studies. We planned to selected studies with healthcare interventions strategies that aimed to systematically identify people with possible or definite clinical familial hypercholesterolaemia, in primary care and other community settings. These strategies would be compared with usual care or no intervention. We considered participants of any age from the general population who access primary care and other community settings. DATA COLLECTION AND ANALYSIS: Two authors planned to independently select studies according to the inclusion criteria, to extract data and assess for risk of bias and the certainty of the evidence (according to the GRADE criteria). We contacted corresponding study authors in order to obtain further information for all the studies considered in the review. MAIN RESULTS: No eligible RCTs or NRSIs were identified for inclusion, however, we excluded 28 studies. AUTHORS' CONCLUSIONS: Currently, there are no RCTs or controlled NRSI evidence to determine the most appropriate healthcare strategy to systematically identify possible or definite clinical familial hypercholesterolaemia in primary care or other community settings. Uncontrolled before-and-after studies were identified, but were not eligible for inclusion. Further studies assessing healthcare strategies of systematic identification of familial hypercholesterolaemia need to be conducted with diagnosis confirmed by genetic testing or validated through clinical phenotype (or both).

The newly described Araguaian river dolphins, Inia araguaiaensis (Cetartiodactyla, Iniidae), produce a diverse repertoire of acoustic signals.

The recent discovery of the Araguaian river dolphin (Inia araguaiaensis) highlights how little we know about the diversity and biology of river dolphins. In this study, we described the acoustic repertoire of this newly discovered species in concert with their behaviour. We analysed frequency contours of 727 signals (sampled at 10 ms temporal resolution). These contours were analyzed using an adaptive resonance theory neural network combined with dynamic time-warping (ARTwarp). Using a critical similarity value of 96%, frequency contours were categorized into 237 sound-types. The most common types were emitted when calves were present suggesting a key role in mother-calf communication. Our findings show that the acoustic repertoire of river dolphins is far from simple. Furthermore, the calls described here are similar in acoustic structure to those produced by social delphinids, such as orcas and pilot whales. Uncovering the context in which these signals are produced may help understand the social structure of this species and contribute to our understanding of the evolution of acoustic communication in whales.

Dawn-song onset coincides with increased HVC androgen receptor expression but is decoupled from high circulating testosterone in an equatorial songbird.

The song of songbirds is a testosterone-sensitive behavior that is controlled by brain regions expressing androgen receptors. At higher latitudes, seasonal singing is stimulated by increasing day-length and elevated circulating testosterone. However, a large number of songbird species inhabit equatorial regions under a nearly constant photoperiod, and the neuroendocrine mechanisms of seasonal song in these species have rarely been investigated. We studied males from an equatorial population of the silver-beaked tanager (Ramphocelus carbo), an Amazonian songbird. We found seasonality in dawn-song behavior, which was displayed continuously for more than half a year throughout an extended breeding territoriality stage. The seasonal activation of dawn-song was correlated with an increased area of androgen receptor expression in HVC, a major brain area of song control. However, testosterone levels remained low for several weeks after activation of dawn-song. Circulating levels of testosterone were elevated only later in the breeding season, coinciding with a higher dawn-song output and with the mating period. Our results suggest that the seasonal activation of dawn-song and territoriality involves an increase of androgen target cells in HVC. This mechanism could potentially function to circumvent adverse effects of high testosterone levels in a species with an extended breeding season.

Singing in the rain forest: how a tropical bird song transfers information.

How information transmission processes between individuals are shaped by natural selection is a key question for the understanding of the evolution of acoustic communication systems. Environmental acoustics predict that signal structure will differ depending on general features of the habitat. Social features, like individual spacing and mating behavior, may also be important for the design of communication. Here we present the first experimental study investigating how a tropical rainforest bird, the white-browed warbler Basileuterus leucoblepharus, extracts various information from a received song: species-specific identity, individual identity and location of the sender. Species-specific information is encoded in a resistant acoustic feature and is thus a public signal helping males to reach a wide audience. Conversely, individual identity is supported by song features susceptible to propagation: this private signal is reserved for neighbors. Finally, the receivers can locate the singers by using propagation-induced song modifications. Thus, this communication system is well matched to the acoustic constraints of the rain forest and to the ecological requirements of the species. Our results emphasize that, in a constraining acoustic environment, the efficiency of a sound communication system results from a coding/decoding process particularly well tuned to the acoustic properties of this environment.