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To describe adults with (non-dialysis) chronic kidney disease (CKD) in nine public renal practice sites in the Australian state of Queensland.7,060 persons were recruited to a CKD Registry in May 2011 and until start of kidney replacement therapy (KRT), death without KRT or June 2018, for a median period of 3.4 years.The cohort comprised 7,060 persons, 52% males, with a median age of 68 yr; 85% had CKD stages 3A to 5, 45.4% were diabetic, 24.6% had diabetic nephropathy, and 51.7% were obese. Younger persons mostly had glomerulonephritis or genetic renal disease, while older persons mostly had diabetic nephropathy, renovascular disease and multiple diagnoses. Proportions of specific renal diagnoses varied2-fold across sites. Over the first year, eGFR fell in 24% but was stable or improved in 76%. Over follow up, 10% started KRT, at a median age of 62 yr, most with CKD stages 4 and 5 at consent, while 18.8% died without KRT, at a median age of 80 yr. Indigenous people were younger at consent and more often had diabetes and diabetic kidney disease and had higher incidence rates of KRT.The spectrum of characteristics in CKD patients in renal practices is much broader than represented by the minority who ultimately start KRT. Variation in CKD by causes, age, site and Indigenous status, the prevalence of obesity, relative stability of kidney function in many persons over the short term, and differences between those who KRT and die without KRT are all important to explore.

Polyploidy is a significant component in the evolution of many taxa, particularly plant groups. However, new polyploids face substantial fitness disadvantages due to a lack of same-cytotype mates, and the factors promoting or preventing polyploid establishment in natural populations are often unclear. We develop spatially explicit agent-based simulation models to test the hypothesis that a perennial life history and clonal propagation facilitate the early stages of polyploid establishment and persistence. Our models show that polyploids are more likely to establish when they have longer life spans than diploids, especially when self-fertilization rates are high. Polyploids that combine sexual and clonal reproduction can establish across a wide range of life histories, but their success is moderated by clonal strategy. By tracking individuals and mating events, we reveal that clonal architecture has a substantial impact on the spatial structure of the mixed diploid-polyploid population during polyploid establishment: altering patterns of mating within or between cytotypes via geitonogamous self-fertilization, the mechanisms through which polyploid establishment proceeds, and the final composition of the polyploid population. Overall, our findings provide novel insight into the role of clonal structure in modulating the complex relationship between polyploidy, perenniality, and clonality and offer testable predictions for future empirical work.

Using Niemann-Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders.Using a multiplexed liquid chromatography tandem mass spectrometry dried bloodspot assay, we developed a selective intelligent biomarker panel to monitor known biomarkers N-palmitoyl-O-phosphocholineserine and 3β,5α,6β-trihydroxy-cholanoyl-glycine as well as compounds predicted to be affected in NPC pathology. We applied this panel to a clinically relevant paediatric patient cohort (n = 75; 35 males, 40 females; mean age 7 years 6 months, range 4 days-19 years 8 months) presenting with neurodevelopmental and/or neurodegenerative pathology, similar to that observed in NPC.The panel had a far superior performance compared with individual biomarkers. Namely, NPC-related established biomarkers used individually had 91% to 97% specificity but the combined panel had 100% specificity. Moreover, multivariate analysis revealed long-chain isoforms of glucosylceramide were elevated and very specific for patients with NPC.Despite advancements in next-generation sequencing and precision medicine, neurological non-enzymatic disorders remain difficult to diagnose and lack robust biomarkers or routine functional testing for genetic variants of unknown significance. Biomarker panels may have better diagnostic accuracy than individual biomarkers in neurometabolic disorders, hence they can facilitate more prompt disease identification and implementation of emerging targeted, disease-specific therapies.Intelligent biomarker panel design can help expedite diagnosis in neurometabolic disorders. In Niemann-Pick type C disease, such a panel performed better than individual biomarkers. Biomarker panels are easy to implement and widely applicable to neurometabolic conditions.

This study explored the genetic variability in the New Zealand sheep population for economically important skin traits. Skins were collected at slaughter from two progeny test flocks, resulting in 725 skins evaluated for grain strain, flatness, crust leather strength and overall suitability for shoe leather. DNA profiles collected from skins post-slaughter were matched to individual animals using previously collected high-density genotypes.Considerable phenotypic variation for skin traits was observed, with around 40% of the skins being identified as suitable for high-value shoe leather production. Several key traits associated with leather production, including flatness, tear strength, grain strength and grain strain were found to be moderate to highly heritable (hThis research confirms that suitable lamb skins can be bred for use as high-value shoe leather. While moderately to highly heritable, skin traits in New Zealand lambs appear to be polygenic with no genes of major effect underlaying the traits of interest. Given the complex nature of these traits, the identification and selection of animals with higher-value skins may be enabled by geomic selection. © 2022 The Authors. Journal of The Science of Food and Agriculture published by John WileySons Ltd on behalf of Society of Chemical Industry.

Objective Non‐surgical scaling and root planing (SRP), as an initial form of periodontal treatment, followed by ongoing periodontal maintenance appointments is necessary to manage periodontal disease and prevent tooth loss. Saliva also has an essential role in oral health though the relationship between low salivary flow and periodontal outcomes has not been extensively investigated. This study determined if patients with dry mouth have similar clinical outcomes as patients without dry mouth when receiving regular periodontal maintenance after SRP. Materials and methods This is a retrospective study that investigated clinical periodontal outcomes in patients with (n = 34) or without (n = 85) dry mouth who had undergone SRP 1 to 5 years prior and had routine periodontal maintenance. The presence of dry mouth was established based on a patient's unstimulated salivary flow rate. Results Probing depth for both patients with or without dry mouth was similar between groups and maintained 1 to 5 years following initial SRP. Improved probing depth achieved post‐SRP was sustained regardless of dry mouth status. Conclusion Patients with or without dry mouth did not exhibit different probing depths.

Migratory connectivity is the degree to which populations are linked in space and time across the annual cycle. Low connectivity indicates mixing of populations while high connectivity indicates population separation in space or time. High migratory connectivity makes individual populations susceptible to local environmental conditions; therefore, evaluating migratory connectivity continuously across a species range is important for understanding differential population trends and revealing places and times contributing to these differences. The common nighthawk Chordeiles minor is a widespread, declining, long‐distance migratory bird. Variable population trends across the nighthawk breeding range suggest that knowledge of migratory connectivity is needed to direct conservation. We used GPS tags to track 52 individuals from 12 breeding populations. We estimated migratory connectivity as 0.29 (Mantel coefficient: 0 = no connectivity, 1 = full connectivity) between the breeding and wintering grounds. We then estimated migratory connectivity at every latitude (spatial connectivity) or day (temporal connectivity) of migration and smoothed those migratory connectivity estimates to produce continuous migratory connectivity ‘profiles'. Spatial and temporal connectivity were highest during migration through North America (around 0.3–0.6), with values generally around 0 in Central and South America due to mixing of populations along a common migratory route and similar migration timing across populations. We found local peaks in spatial and temporal connectivity during migration associated with crossing the Gulf of Mexico. We used simulations to estimate the probability that our method missed peaks (spatial: 0.12, temporal: 0.18) or detected false peaks (spatial: 0.11, temporal: 0.37) due to data gaps and showed that our approach remains useful even for sparse and/or sporadic location data. Our study presents a generalizable approach to evaluating migratory connectivity across the full annual cycle that can be used to focus migratory bird conservation towards places and times of the annual cycle where populations are more likely to be limited.

Background: Progression of kidney disease is a deceptively simple word for a complex bio-clinical process, evidenced by the number of definitions in the literature. This has led to confusion and differences in interpretation of studies. Methods: We describe different patterns of progression, the performance of different definitions of progression and factors associated with chronic kidney disease (CKD) progression in a public renal service in Australia, in a study of patients enrolled in the CKD.QLD Registry with a minimum of 2 years' follow up. Results: Nine patterns of changing estimated glomerular filtration rate (eGFR) over two consecutive 12-month periods were identified. Most common was a stable eGFR over 2 years (30%), and the least was a sustainable improvement of eGFR over both periods (2.1%). There was a lack of congruence between the several definitions of progression of CKD evaluated. More people progressed using the definition of decline of eGFR of >5 mL/min/1.73 m/year (year 1 = 30.2%, year 2 = 20.7%) and the least using development of end-stage renal disease (year 1 = 5.4%, year 2 = 9.9%). Age (40–59, ≥80 years), degree of proteinuria at baseline (nephrotic range) and CKD aetiology (renal vascular disease, diabetic nephropathy) were significantly associated with eGFR decline over 2 years. Conclusions: This is one of the first demonstrations of the great variations among and within individuals in the progression of CKD over even a period as short as 2 years. Findings suggest considerable potential for renal function recovery and stability while demonstrating the importance of using identical definitions for comparisons across datasets from different sources.

Triggering receptor expressed on myeloid cells 2 TREM2 was identified as a risk factor for late onset Alzheimer’s disease (AD). Here we compared TREM2 cases with a variant (TREM2+) and cases without a TREM2 variant (TREM2−), considering pathological burden, inflammatory response and altered canonical pathways and biochemical functions between the cohorts. We hypothesised that TREM2+ cases would have a loss of function, indicating an altered inflammatory profile compared to TREM2− cases. Immunohistochemistry was performed using antibodies against Aβ, tau and microglia markers in TREM2+ cases, with and without AD, which were compared to sporadic TREM2− AD, familial AD and neurologically normal control cases. Aβ and tau load were measured along with the composition of Aβ plaques, in addition to microglial load and circularity. Expression and proteomic profiles were determined from the frontal cortex of selected cases. TREM2+ control cases had no Aβ or tau deposition. No differences in the amount of Aβ or tau, or the composition of Aβ plaques were observed between TREM2+ and TREM2− SAD cases. There were no differences in microglial load observed between disease groups. However, the TREM2+ SAD cases showed more amoeboid microglia than the TREM2− SAD cases, although no differences in the spatial relationship of microglia and Aβ plaques were identified. Visualisation of the canonical pathways and biological functions showed differences between the disease groups and the normal controls, clearly showing a number of pathways upregulated in TREM2+ SAD, TREM2− SAD and FAD groups whilst, the TREM2+ controls cases showed a downregulation of the majority of the represented pathways. These findings suggest that the TREM2+ control group, although carrying the TREM2+ variant, have no pathological hallmarks of AD, have altered microglial and expression profiles compared to the TREM2+ SAD cases. This indicates that other unknown factors may initiate the onset of AD, with TREM2 influencing the microglial involvement in disease pathogenesis.

Aims Higher intakes of fruits and vegetables, and vitamin C are associated with improved periodontal healing post‐scaling and root planing (SRP). This study determined if this association was sustained at 3–4 years post‐SRP, and if flavonoid intake is associated with periodontal health. Whether reduced probing depth (PD) is sustained and whether PD is correlated with salivary IL‐1β, IL‐6 and CRP at 3–4 years post‐SRP were also studied. Materials and Methods Clinical periodontal outcomes, dietary intakes and salivary markers of inflammation were measured in patients (n = 43, 23 females, 37–93 years) who had undergone SRP 3–4 years earlier and had been part of a periodontal maintenance programme. Results Flavonoid intake was inversely associated with PD (p = .042) and salivary IL‐1β concentration (p = .015) after adjustment for multiple confounders. When changes in PD were considered, the association of flavonoid intake with reduced PD became borderline significant (p = .051) but persisted for IL‐1β (p = .018). PD at 3–4 years and 2–4 months post‐SRP was similar. There was a positive correlation between PD and salivary IL‐1β (p = .005) but not with salivary CRP and IL‐6. Conclusion Higher flavonoid intake is associated with lower IL‐1β. Also, regular supportive periodontal therapy maintained the improved PD at 3–4 years post‐SRP regardless of smoking status.

Background Recently, United States life expectancy has stagnated or declined for the poor and working class and risen for the middle and upper classes. Declining labor-union density-the percent of workers who are unionized-has precipitated burgeoning income inequity. We examined whether it has also exacerbated racial and educational mortality inequities. Methods From CDC, we obtained state-level all-cause and overdose/suicide mortality overall and by gender, gender-race, and gender-education from 1986-2016. State-level union density and demographic and economic confounders came from the Current Population Survey. State-level policy confounders included the minimum wage, the generosity of Aid to Families with Dependent Children or Temporary Assistance for Needy Families, and the generosity of unemployment insurance. To model the exposure-outcome relationship, we used marginal structural modeling. Using state-level inverse-probability-of-treatment-weighted Poisson models with state and year fixed effects, we estimated 3-year moving average union density's effects on the following year's mortality rates. Then, we tested for gender, gender-race, and gender-education effect-modification. Finally, we estimated how racial and educational all-cause mortality inequities would change if union density increased to 1985 or 1988 levels, respectively. Results Overall, a 10% increase in union density was associated with a 17% relative decrease in overdose/suicide mortality (95% confidence interval [CI]: 0.70, 0.98), or 5.7 lives saved per 100 000 person-years (95% CI: -10.7, -0.7). Union density's absolute (lives-saved) effects on overdose/suicide mortality were stronger for men than women, but its relative effects were similar across genders. Union density had little effect on all-cause mortality overall or across subgroups, and modeling suggested union-density increases would not affect mortality inequities. Conclusions Declining union density (as operationalized in this study) may not explain all-cause mortality inequities, although increases in union density may reduce overdose/suicide mortality.

OBJECTIVE To establish whether there is a relationship between the frequency and severity of different types of childhood maltreatment and adulthood arthritis. METHODS Analysis of the 2012 Canadian Community Health Survey-Mental Health included 21,889 respondents ages ≥18 years. Severity and frequency of childhood physical abuse (CPA), and childhood sexual abuse (CSA), and the frequency of childhood exposure to intimate partner violence (CEIPV) were assessed by asking about "things that may have happened to you before you were 16 in your school, in your neighborhood, or in your family." Respondents were also asked about chronic conditions diagnosed by a health professional, including arthritis. Covariates were sociodemographic characteristics, health risk variables (e.g., obesity), mental disorders, and a count of other chronic conditions. Multivariate logistic regression analysis was used to examine associations between childhood maltreatment and arthritis. RESULTS A total of 17.5% of respondents reported arthritis. A higher prevalence of arthritis was observed for those who had experienced severe and/or frequent childhood maltreatment (32% for CPA and 27% for both CSA and CEIPV). These relationships persisted after controlling for sociodemographic variables. After controlling for all covariates, arthritis remained independently associated with severe and/or frequent CPA (dose-response relationship) and frequent CEIPV. CONCLUSION We found that the greater the frequency and severity of childhood maltreatment, the greater the magnitude of association with arthritis. This might reflect the role of the enduring immune and metabolic abnormalities and chronic inflammation associated with childhood maltreatment in the etiopathogensis of osteoarthritis (OA) or be an indicator of the role of joint injury in causing OA.

Clonal reproduction is thought to facilitate polyploid establishment in the angiosperms, but the evolutionary relationship between polyploidy and clonality has not been thoroughly tested. A perennial life history may confer many of the same advantages, and the relative importance of clonality versus perenniality is unknown. We used phylogenetic comparative analyses of 1751 species to examine associations between polyploidy, clonality, and life history. We test hypotheses of co-evolution by determining the sequence of trait development. Polyploidy is associated with both clonality and perenniality across species, and analyses show that clonality can be an important predictor of polyploidy beyond perenniality. Tests of directionality on our full dataset suggest that polyploidy is more likely to promote clonality or perenniality than vice versa, although there are significant differences in patterns of co-evolution among major angiosperm groups. Our results suggest that polyploidy and clonal reproduction are evolutionarily associated across the angiosperms, even when perenniality is considered, but we find little evidence at the whole-angiosperm level for the hypothesis that clonality promotes polyploidy. However, variation among different clades indicates that polyploidy and clonality are interacting in diverse ways, likely to be due to the variable roles of clonality in their evolutionary histories.

Chronic Kidney Disease, Queensland (CKD.QLD) is a multidisciplinary, collaborative research platform for CKD in Queensland. All public renal services contribute towards the CKD Registry, including Toowoomba Hospital which is a referral hospital for Darling Downs Health (DDH) serving largely regional population in Queensland. We aim to present the profile of the CKD cohort recruited to CKD.QLD Registry from Toowoomba Hospital, the first comprehensive report on pre-dialysis population from regional Australia METHODS: Study subjects were patients in the DDH service who consented to be included in the CKD.QLD registry from June 2011 to December 2016. Those who were on renal replacement therapy (RRT) were excluded. Patients were followed until date of RRT, death, discharge or lost to follow up or a censor date of 30th June 2017. Overall 1051 subjects representing 13% of CKD.QLD Registry gave consent of whom, 42.7% were ≥ 70 years. The mean age was 63.8 ± 15.1 years (median age 67 years) with male predominance (55.4%) The majority were born in Australia (86.4%). Aboriginal and Torre Strait islanders (A&TSI) constituted 9.6% of the cohort. The predominant CKD stages were 3b (28.9%) and 4 (27.7%). Hypertension and diabetes were noted in 91% and 44%, of subjects respectively. Diabetic nephropathy was the leading cause of CKD (26.7%) followed by renovascular disease (17.3%) and glomerulonephritis (14.8%). In 12% the diagnosis was uncertain. Major co-morbidities include coronary artery disease (24.7%) chronic lung disease (14.8%), cerebrovascular disease (11.6%) and peripheral vascular disease (8. 9%).Non-vascular co-morbidities include arthritis (24.6%), gout (23.6%) and gastro oesophageal reflux disease (19%). The multi-morbidity profile was differed by gender, diabetic status and age. During a follow-up period of 72 months 93 (8.8%) started RRT and 175 (16.6%) died. Of those 82% died without RRT and 18% died after RRT. This CKD Registry cohort from regional Queensland consists mainly of older Caucasians with male predominance. The A&TSI patients were over represented compared to overall population. A significant proportion had cardio-vascular disease and multiple co-morbidities which differed by gender, diabetic status and age. This report provides valuable data for health services planning and delivery in regional Queensland. This article is protected by copyright. All rights reserved.

BACKGROUND Exercise can improve body composition in adolescents and adults with overweight/obesity. Consumption of dairy foods, as part of a healthy lifestyle program, can also promote favourable body composition changes in adults with overweight/obesity. However, the few studies examining these combined effects on body composition in adolescents are inconclusive. OBJECTIVE To determine whether increased dairy product consumption, as part of a lifestyle modification program featuring exercise training and dietary guidance promotes favourable body composition changes in adolescent females with overweight/obesity. METHODS Fifty-four participants (age: 14.8 ± 2.2y; BMI percentile: 95th ± 6) assigned to three groups completed the study. There were two experimental groups: recommended dairy (RDa; n = 24) and low dairy (LDa; n = 22), and a no-intervention control group (Con; n = 8). RDa and LDa participated in a 12-week, eucaloric, lifestyle modification intervention consisting of mixed-mode exercise (3x/week), and nutritional counselling. RDa was provided 4 servings/day of dairy foods, while LDa and Con maintained habitually low intakes (0-2 servings/day). Body weight/composition, waist/hip circumference, cardiovascular fitness and food intake were assessed at weeks 0 and 12. RESULTS Weight did not significantly change in any group. RDa significantly decreased fat mass (FM) and increased lean mass (LM) more than LDa and Con (FM: -1.3 ± 2.1 kg, -1.1 ± 2.0 kg, 0.8 ± 1.8 kg; LM: 1.5 ± 1.9 kg, 0.7 ± 1.6 kg, 0.5 ± 1.4 kg, respectively). LDa also significantly decreased FM and increased LM more than Con (P

In the midst of the COVID‐19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. This publication is designed to offer ideas and resources for quickly transitioning our education to meet the current demands in the time of a pandemic. Not only will this allow us to continue our strong history of education, it will enhance our strong commitment to using modern educational techniques and tools to address the genetics workforce issues that have defined the recent past. We have the opportunity to aggressively educate for trainees that now have the capacity to learn, and to lead the way in showing how the genetics community rallies together no matter the challenge.

Chronic kidney disease (CKD) is important in the fields of public health and health geography because of its heavy burden on the health system and high cost of treatment in its advanced stages. The causes of CKD are associated with diabetes and hypertension, but in some parts of the world, the disease occurs in the absence of these factors. Researchers identify this condition as CKD of “unknown” causes (CKDu). CKDu is a multi‐factored health problem and one suspected causal factor is contaminated drinking water. The disease occurs globally but is found in particularly high concentrations among people of certain ethnic and disadvantaged social groups living in very different locations around the world. CKD has become endemic in Western Australia where hospital admissions for Aboriginal people requiring renal dialysis or treatment for diabetes are much higher than for the general population. The possible proportions of CKDu cases among the CKD patients are unknown. This study examines the drinking water quality among communities such as these. Water chemistry analysis in these areas indicates that the nitrate and uranium content greatly exceed officially recommended levels. Most of these communities rely on raw groundwater to supply their domestic needs, and it is very likely that the people are unwittingly ingesting high levels of nitrates and uranium, probably including uranyl nitrates. Very few such remote communities have access to treated drinking water, and cost‐effective water treatment systems are required to provide potable water at the local scale.

Objective To assess the reliability and validity of six patient-reported outcomes (PRO) instruments for evaluating health-related quality of life in adults with mild-severe hemophilia B and caregivers of children with hemophilia B, including affected women/girls. Methods Adults with hemophilia B and caregivers completed separate online surveys containing several PRO instruments, which were administered to adult participants only (EQ-5D-5L, Brief Pain Inventory v2 Short Form, Hemophilia Activities List, and International Physical Activities Questionnaire), both adults and caregivers (Patient Health Questionnaire [PHQ-9]), or caregivers only (Generalized Anxiety Disorder 7-Item [GAD-7] scale). Construct validity and item-total correlation were assessed using Pearson product-moment correlation, internal consistency was assessed using Cronbach's alpha coefficient, and known-group validity was assessed by comparisons to self-reported characteristics based on the Kruskal-Wallis test. Results Patient-reported outcomes instruments generally showed satisfactory reliability for adults (n = 299) and caregivers (n = 150). In adults, PRO instruments generally showed high construct validity. Most PRO instruments showed expected significant differences among known groups for adults and caregivers. PHQ-9 and GAD-7 did not show significant differences among caregiver age groups. Conclusions Patient-reported outcomes instruments administered in B-HERO-S demonstrated reliability and validity in the broader population of adults with hemophilia B and caregivers when including all severities and genders.

Premise of the study Clonal reproduction is often associated with polyploidy and is expected to influence polyploid establishment success, but the immediate effects of whole-genome duplication (WGD) on clonal reproduction in autopolyploids are unknown. Methods We used synthesized neopolyploids to assess the direct effects of WGD on stolon and plantlet production in the wild strawberry Fragaria vesca by (1) comparing absolute clonal investment between diploids and neotetraploids under high and low resource conditions in the greenhouse and (2) determining realized clonal plantlet establishment and genet spatial structure using artificial field populations comprising both cytotypes. Key results Neotetraploids produced fewer stolons and plantlets than diploids at slower weekly rates in the greenhouse when resources were high, resulting in lower total investment in clonal reproduction. Low resources led to smaller reductions in clonal biomass for neotetraploids and less pronounced differences between cytotypes. Comparisons between neotetraploids representing 13 independent WGD events and close diploid relatives revealed considerable variation in the response to polyploidization for some clonal traits. Field populations corroborated greenhouse results; neotetraploid genets were smaller than diploid genets, containing 28% fewer stolons and 46% fewer rooted plantlets. Conclusions WGD significantly decreases the clonal output of neotetraploid F. vesca, which is likely attributable to slower whole-plant growth of the neotetraploids than the diploids. In natural populations, smaller neotetraploid genets could decrease the probability of polyploid establishment in this species. However, variation between separate neopolyploid lines emphasizes that the response of clonal investment to WGD may not be uniform across polyploid origins.

Background There is increasing recognition of the clinical need for timely and coordinated supportive and palliative care for those with terminal organ failure. Objective To describe symptoms, quality of life and supportive care needs in the anticipated 12‐month period prior to death in adults with chronic kidney disease (CKD) stages 4 or 5. Method An observational, prospective, longitudinal design was used to follow 19 patients. The measures used were the Chronic Kidney Disease‐Symptom Burden Index (CKD‐SBI), the Australian Karnofsky Performance Scale (AKPS), the Functional Assessment of Chronic illness Therapy Palliative‐14 (FACIT PAL‐14), the Assessment of Quality of Life 6 Dimensions (AQoL‐6D) and the Sheffield Profile for Assessment and Referral for Care (SPARC). Data were collected at study entry and three monthly until death or study end. Results Patients’ median age was 78 years (range 42–90), most were male (63%), 10 were receiving dialysis and seven died during the study. The most prevalent symptoms reported differed from those that were most troublesome. The median AKPS score did not change over time (60). Quality of life remained steady over time [FACIT‐PAL median range: 43.5‐46; AQoL‐6D means range: 0.66 (SD 0.19) to 0.75 (SD 0.2)]. Supportive care needs were few. Conclusion We found a substantial symptom burden and slow functional decline in this group of patients. Regular assessment of both symptoms and QOL is warranted particularly if clinical experience indicates that the person is likely to be in their last year of life. Integrated supportive care programmes could assist with easing symptom burden during this time.

SATB2-associated syndrome (SAS) is a rare disorder caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a higher frequency of skeletal complications in SAS. The optimal timing, necessity, and methodology for routine assessment of bone health in individuals with SAS, however, remain unclear. We report molecular and phenotypic features of 7 individuals with SAS documented to have low bone mineral density (BMD) ascertained by dual-energy X-ray absorptiometry (DXA), often preceded by tibial bowing. The lowest BMD Z-scores ranged -2.3 to -5.6. In 4 individuals, total alkaline phosphatase levels were elevated (2 with elevated bone fraction) around the time of low BMD documentation. A clinically significant fracture history and a diagnosis of pediatric osteoporosis were present in 4 individuals. Pamidronate treatment in 2 children improved BMD. In conclusion, low BMD, fractures, and tibial bowing are relatively common skeletal complications in individuals with SAS. DXA is a useful tool when evaluating a child with SAS suspected to have low BMD and the results might alter clinical management.