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The Fontan Outcomes Network was created to improve outcomes for children and adults with single ventricle CHD living with Fontan circulation. The network mission is to optimise longevity and quality of life by improving physical health, neurodevelopmental outcomes, resilience, and emotional health for these individuals and their families. This manuscript describes the systematic design of this new learning health network, including the initial steps in development of a national, lifespan registry, and pilot testing of data collection forms at 10 congenital heart centres.
Major depression (MD) is often characterised as a categorical disorder; however, observational studies comparing sub-threshold and clinical depression suggest MD is continuous. Many of these studies do not explore the full continuum and are yet to consider genetics as a risk factor. This study sought to understand if polygenic risk for MD could provide insight into the continuous nature of depression.
Factor analysis on symptom-level data from the UK Biobank (N = 148 957) was used to derive continuous depression phenotypes which were tested for association with polygenic risk scores (PRS) for a categorical definition of MD (N = 119 692).
Confirmatory factor analysis showed a five-factor hierarchical model, incorporating 15 of the original 18 items taken from the PHQ-9, GAD-7 and subjective well-being questionnaires, produced good fit to the observed covariance matrix (CFI = 0.992, TLI = 0.99, RMSEA = 0.038, SRMR = 0.031). MD PRS associated with each factor score (standardised β range: 0.057–0.064) and the association remained when the sample was stratified into case- and control-only subsets. The case-only subset had an increased association compared to controls for all factors, shown via a significant interaction between lifetime MD diagnosis and MD PRS (p value range: 2.23 × 10−3–3.94 × 10−7).
An association between MD PRS and a continuous phenotype of depressive symptoms in case- and control-only subsets provides support against a purely categorical phenotype; indicating further insights into MD can be obtained when this within-group variation is considered. The stronger association within cases suggests this variation may be of particular importance.
This is a cross-sectional study aiming to understand the early characteristics and background of bone health impairment in clinically well children with Fontan circulation.
We enrolled 10 clinically well children with Fontan palliation (operated >5 years before study entrance, Tanner stage ≤3, age 12.1 ± 1.77 years, 7 males) and 11 healthy controls (age 12.0 ± 1.45 years, 9 males) at two children’s hospitals. All patients underwent peripheral quantitative CT. For the Fontan group, we obtained clinical characteristics, NYHA class, cardiac index by MRI, dual x-ray absorptiometry, and biochemical studies. Linear regression was used to compare radius and tibia peripheral quantitative CT measures between Fontan patients and controls.
All Fontan patients were clinically well (NYHA class 1 or 2, cardiac index 4.85 ± 1.51 L/min/m2) and without significant comorbidities. Adjusted trabecular bone mineral density, cortical thickness, and bone strength index at the radius were significantly decreased in Fontan patients compared to controls with mean differences −30.13 mg/cm3 (p = 0.041), −0.31 mm (p = 0.043), and −6.65 mg2/mm4 (p = 0.036), respectively. No differences were found for tibial measures. In Fontan patients, the mean height-adjusted lumbar bone mineral density and total body less head z scores were −0.46 ± 1.1 and −0.63 ± 1.1, respectively, which are below the average, but within normal range for age and sex.
In a clinically well Fontan cohort, we found significant bone deficits by peripheral quantitative CT in the radius but not the tibia, suggesting non-weight-bearing bones may be more vulnerable to the unique haemodynamics of the Fontan circulation.
Neonatal aortic thrombosis is a rare occurrence but can be life-threatening. Most aortic thrombosis in neonates is related to umbilical artery catheters. A case of a neonate with a spontaneous aortic thrombosis is described here along with a comprehensive review of the literature for cases of neonatal aortic thrombosis not related to any intravascular device or procedure. The aetiologies of these spontaneous thromboses and the relevance of hypercoagulable disorders are discussed. The cases were analysed for odds of death by treatment method adjusted for era. The reference treatment method was thrombolysis and anticoagulation. No other treatment modality had significantly lower odds than the reference. Surgery alone had higher odds for death than the reference, but this may be confounded by severity of case. The management recommendations for clinicians encountering neonates with spontaneous neonatal aortic thrombosis are discussed.
Working with a group to maintain their language can be mutually beneficial, with positive community and scholarly outcomes. We have seen in Chapter 3 how to behave in an ethical way in the community, in Chapter 4, how community attitudes and identity function and change, in Chapter 5, how language learning and use is crucial, in Chapter 6, some of the non-linguistic factors which may be important, in Chapter 7, some likely linguistic outcomes of the process, in Chapter 8, various policy and planning settings and activities to reinforce a language, in Chapter 9, strategies which have worked in language reclamation efforts and, in Chapter 10, techniques for carrying out socially grounded scholarly research.
As we saw in Chapter 3, a community will often be suspicious of a researcher who does not attempt to learn the language. One must have adequate initial ability in another language known within the community. Part of the preparation for fieldwork is reading all available materials on the target group, as well as the area and other nearby groups, and whatever has been done on the group’s own language. Fieldwork will be much more effective if the language is learned fairly well during the process; this is not a short-term task. Unfortunately, most scholarly linguistic materials are not designed for learning conversational skills; but there may be materials aimed at tourists or incoming local government workers; see, for example, Bradley et al. (1991, first, second and third editions) for a brief introduction to five minority languages of mainland South East Asia and southern China.
Ethical research is not just a moral obligation, inappropriate behaviour is unacceptable. It can have bad consequences for a community and for later researchers; no one welcomes the eleventh nerd. Communities and individuals within them have priorities, and they usually do not include spending time with an outsider whose future intentions and use of the material collected are unknown. They often suspect that researchers wish to benefit financially from what is collected; and in truth nearly all researchers do wish to benefit, at least in terms of advancing their academic discipline and their own career. It is wise to have a truthful and understandable reason why you want to do your research in a particular place which you can explain to people.
From the perspective of an individual, personal life history, capacities and choices determine their abilities in whatever languages they speak. The outcome for the languages in their repertoire is often that an individual’s knowledge of the dominant language in the larger society will increase, while their knowledge of their in-group endangered language may cease to develop after a certain age, and may even contract. The process of language endangerment is an overall collective outcome of the choices made by individuals, families and communities to acquire and use another language rather than a traditional in-group language, more of the time in progressively more situations.
This chapter discusses the types of change which occur in languages when they become endangered. As most of them involve linguistic structures, there will be extensive use of linguistic terminology here; all terms are first introduced in bold and are explained in the Glossary. Some readers with less background in linguistics may find some of the material in this chapter fairly difficult and may wish to pass over it.
Apart from the various nonlinguistic factors included in the indices of language endangerment discussed in Chapter 2, there have been many previous studies listing, classifying and discussing sociolinguistic setting factors, such as Ferguson (1962), Fishman (1962, 1985), Kloss (1968), Haugen (1972), Kibrik (1991), Edwards (1992), Krauss (1992), de Vries (1992) and many more.
This chapter discusses various subtypes of language reclamation: revitalization, revival, renativization, nativization and heritage. A further possibility is denativization, as seen for Rumantsch in Chapter 8; this is a top-down language unification strategy, imposing an artificial standard. Sadly, heritage activities, including limited language use, is the likely future for N‖ng (Chapter 3) and many other languages around the world. Language reclamation work in a community depends crucially on the current situation of the endangered language; concerning levels and stages of endangerment, see Chapter 2. See Chapter 8 concerning the four components of language planning (Selection, Codification, Elaboration and Dissemination) for reclamation, and the required actions, such as work on orthography, pronunciation, structural and interactional patterns and vocabulary.