11-Year Mean Follow-Up of Acetabular Impaction Grafting With a Mixture of Bone Graft and Hydroxyapatite Porous Synthetic Bone Substitute.

BACKGROUND: We report an 11-year mean follow-up of the effectiveness of bone impaction grafting with bone and hydroxyapatite (HA) for large, uncontained acetabular defects in primary and revision hip surgeries. METHODS: Over 5 years, 47 total hip arthroplasties with uncontained acetabular deficiencies were performed by augmentation using an impaction graft with 50:50 mixture of freeze-dried bone allograft and HA. Ten were primary total hip arthroplasties and 37 revision procedures. X-rays were taken postoperatively, 6 weeks, 3 months, and then annually to assess incorporation of the graft, radiolucent lines, resorption, or migration of components. Functional outcomes were assessed by annual pain and function parts of the Harris Hip Score. RESULTS: At a mean follow-up of 10 years, the survivorship was 100%. All patients were accounted for; 6 had died. The Harris Hip Score for pain improved from 9 and 17 (primaries and revisions, respectively) to 39 and 41. For function, there was an improvement from 20 and 19 to 32 (both groups). There were lucent lines in 8 cases, 3 cups had minor/stable migration, and one cup had significant migration (>15 mm). Graft incorporation had occurred in 20 hips. CONCLUSION: This is the longest survivorship of bone impaction grafting with morcellised bone and HA substitute. Although 11-year survivorship, function and pain are excellent, radiological findings of lysis in 8 and migration in 4 cases may be of concern for the immediate future and will need close monitoring. Even in these cases, revision may be easier because of restoration of bone stock.

A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.

Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5-year-old girl who presented with neonatal hypoglycaemia and prolonged jaundice. No definitive endocrine cause of hypoglycaemia was identified in the neonatal period. She was born of normal size at 42 weeks but demonstrated growth failure with a progressive reduction in height to -3.2 SD by age 4.5 years and failed a growth hormone stimulation test with a peak growth hormone of 4.2 mcg/L. MRI of the pituitary gland demonstrated a hypoplastic anterior lobe and ectopic posterior lobe. Array CGH demonstrated an inherited 0.2 Mb gain at 1q21.1 and a de novo 4.8 Mb heterozygous deletion at 20p12.2-3. The deletion contained 17 protein coding genes including PROKR2 and BMP2, both of which are expressed during embryological development of the pituitary gland. PROKR2 mutations have been associated with hypopituitarism but a heterozygous deletion of this gene with hypopituitarism is a novel observation. In conclusion, congenital hypopituitarism can be present in individuals with a 20p12.3 deletion, observed with incomplete penetrance. Array CGH may be a useful investigation in select cases of early onset growth hormone deficiency, and patients with deletions within this region should be evaluated for pituitary hormone deficiencies.

People living with psychosocial disability: Rehabilitation and recovery-informed service provision within the second Australian national survey of psychosis.

OBJECTIVE: People with psychosocial disability are an important, although often neglected, subgroup of those living with severe and persistent mental illness. Rehabilitation, provided through clinical and non-government organisations in Australia, may contribute to their personal recovery goals. We hypothesised that people with psychoses with the greatest disability and complex needs would receive services from both sectors, reflecting treatment and rehabilitation needs. METHOD: Participants in the 2010 Australian national survey of psychosis (n = 1825) were interviewed to assess demographic, functional, mental and physical health characteristics and service use in the previous year. Two subgroups were created and compared: those using services from community mental health with, and without, non-governmental organisation involvement. Group membership was predicted by hierarchical logistic regression using variables selected on a priori grounds. Usefulness of the final model was examined by calculating improvement over the rate of accuracy achievable by chance alone. RESULTS: The model was statistically significant but fell just short of useful (criterion 71.6%, model achieved 70.6%). Four independent variables contributed uniquely to predicting whether participants received both services (never married, childhood trauma, group accommodation, poor global functioning) consistent with the hypothesis. However, severe dysfunction in socialising was less likely to predict membership of the combined services group when compared with no dysfunction (p = 0.001, odds ratio = 0.384, confidence interval = [0.218, 0.677]), as was current smoking compared with none (p = 0.001, odds ratio = 0.606, confidence interval = [0.445, 0.824]). CONCLUSION: Findings suggest services provided by non-governmental organisations are targeted to those with the greatest disability although targeting could be improved. A subgroup of people with psychosis and severe disability in community mental health services do not access non-governmental services. Their unmet needs for rehabilitation and recovery have important implications for future development of community mental health, including the non-governmental sector.

Isolation of the left innominate artery: When to operate?

A right aortic arch with an isolated left innominate artery from the pulmonary artery is an exceedingly rare congenital cardiac malformation. We describe the management and complex surgical timing considerations in two such cases, successfully operated on day 4 and 7 months of age, including the use of cranial ultrasound as a helpful tool to guide decision-making. We also describe the first reported association of this defect with a 4q25 deletion encompassing the LEF1 gene.

Role of ZBTB38 Genotype and Expression in Growth and Response to Recombinant Human Growth Hormone Treatment.

CONTEXT: Single-nucleotide polymorphisms (SNPs) in ZBTB38 have been associated with idiopathic short stature (ISS) and adult height. OBJECTIVE: This study sought to (a) characterize the phenotype of ISS patients and their response to recombinant human growth hormone (rhGH) by ZBTB38 SNP genotype; (b) describe the relationship of ZBTB38 expression with normal growth; and (c) describe the in vitro effects of ZBTB38 knockdown on cell proliferation and MCM10 expression. METHODS: The genotype-phenotype relationship of rs6764769 and rs724016 were explored in 261 ISS patients and effects of genotype on response to rhGH were assessed in 93 patients treated with rhGH. The relationship between age and ZBTB38 expression was assessed in 87 normal children and young adults. Knockdown of ZBTB38 in SiHA cells was achieved with siRNAs and cell proliferation assessed with a WST-8 assay. RESULTS: We found that rs6764769 and rs724016 are in linkage disequilibrium. The rs724016 GG genotype was associated with lower birth length (P = 0.01) and a lower change in height SDS over the first year of treatment (P = 0.02). ZBTB38 expression was positively correlated with age (P < 0.001). siRNA-mediated knockdown of ZBTB38 resulted in increased cell proliferation at 72 and 96 hours posttransfection but did not alter expression of MCM10. CONCLUSIONS: SNPs within ZBTB38 associated with ISS are linked to higher birth size within a cohort of ISS patients and a better response to rhGH therapy while ZBTB38 expression is positively related to age.

Total Hip Arthroplasty for Hip Fracture: Clinical Results and Mid-Term Survivorship.

Aim The purpose of this study is to report the clinical results and mid-term survivorship for total hip arthroplasty (THA) performed to treat displaced intracapsular hip fracture. Methods Between January 2005 and December 2019, 414 patients underwent THA for acute displaced intracapsular hip fracture. The mean age of patients was 73.2±8.0. Out of the total patients, 89.6% received a cemented THA. Kaplan-Meier analysis was performed with implant survivorship and dislocation as separate endpoints. Complications and modified Harris Hip Score (HHS) at the latest follow-up were also reported. Results There was a total of nine revisions, six were performed for dislocation and three for infection. Kaplan-Meier implant survivorship was 99.0% at five years and 97.7% at ten years. Twenty (4.8%) patients suffered at least one dislocation and 11 suffered more than one, so following a first dislocation, the chance of one or more further dislocations was 11/20 (55%). Kaplan-Meier analysis with dislocation as the endpoint showed the risk of dislocation of 2.9, 4.4, and 5.2% at one, five, and ten years respectively. Three (0.7%) patients suffered late periprosthetic fractures and 22 (5.3%) contralateral hip fractures. The mean modified HHS at the latest follow-up was 86.3±18.9. Conclusion In conclusion, the present study shows excellent implant survivorship, good hip function, and moderate risk of dislocation and contralateral hip fracture following THA for displaced intracapsular hip fracture. Our study shows favourable results for THA treatment in a selected group of patients with hip fractures.

Eyetracking Metrics in Young Onset Alzheimer's Disease: A Window into Cognitive Visual Functions.

Young onset Alzheimer's disease (YOAD) is defined as symptom onset before the age of 65 years and is particularly associated with phenotypic heterogeneity. Atypical presentations, such as the clinic-radiological visual syndrome posterior cortical atrophy (PCA), often lead to delays in accurate diagnosis. Eyetracking has been used to demonstrate basic oculomotor impairments in individuals with dementia. In the present study, we aim to explore the relationship between eyetracking metrics and standard tests of visual cognition in individuals with YOAD. Fifty-seven participants were included: 36 individuals with YOAD (n = 26 typical AD; n = 10 PCA) and 21 age-matched healthy controls. Participants completed three eyetracking experiments: fixation, pro-saccade, and smooth pursuit tasks. Summary metrics were used as outcome measures and their predictive value explored looking at correlations with visuoperceptual and visuospatial metrics. Significant correlations between eyetracking metrics and standard visual cognitive estimates are reported. A machine-learning approach using a classification method based on the smooth pursuit raw eyetracking data discriminates with approximately 95% accuracy patients and controls in cross-validation tests. Results suggest that the eyetracking paradigms of a relatively simple and specific nature provide measures not only reflecting basic oculomotor characteristics but also predicting higher order visuospatial and visuoperceptual impairments. Eyetracking measures can represent extremely useful markers during the diagnostic phase and may be exploited as potential outcome measures for clinical trials.

Is the WMS-IV verbal paired associates as effective as other memory tasks in discriminating amnestic mild cognitive impairment from normal aging?

Paired associate learning tasks are reportedly particularly sensitive to preclinical Alzheimer's disease. We aimed to determine the effectiveness of the recently updated Wechsler Memory Scale verbal paired associates (VPA) in distinguishing the earliest stages of memory impairment (amnestic mild cognitive impairment, aMCI), and the clinical application at the case level, compared with other episodic memory tasks. Participants were 77 people with aMCI and 77 matched healthy older adults (HOA). VPA performance distinguished aMCI from HOA at the group level with large effect sizes, of similar size to the other tasks at immediate recall, but smaller than the CVLT-II list-learning task at delayed recall. Similarly, receiver operating characteristic (ROC) analysis demonstrated good discrimination, similar to other tasks, but again with CVLT-II more accurate at delayed recall. Although group differences remained for normative data, on a case basis using existing normative data the VPA failed to identify 70% of aMCI as impaired. The findings suggest further examination of the normative data is required before the VPA is useful in clinical practice, and highlight the importance of comprehensive neuropsychological assessment in detecting mild memory changes in older adults.

Relationship between control beliefs, strategy use, and memory performance in amnestic mild cognitive impairment and healthy aging.

OBJECTIVES: Little information is available regarding the extent of strategy use and factors that affect strategy use in amnestic mild cognitive impairment (aMCI). This study aimed to compare spontaneous strategy use and beliefs about the controllability of memory between aMCI and healthy older adult (HOA) samples and to explore the relationships between beliefs, strategy use, and memory performance for both groups. METHOD: The aMCI and HOA groups each composed of 60 individuals matched for age and education. The Memory Controllability Inventory was used to assess control beliefs, and the extent of semantic clustering on a list-learning task provided a measure of spontaneous strategy use. RESULTS: The aMCI group endorsed lower control beliefs and demonstrated poorer semantic clustering and memory performance compared with the HOA group. Although strategy use partially mediated the control beliefs-memory performance relationship for the HOA group, this was not replicated for the aMCI group. DISCUSSION: Despite the weak relationship between control beliefs and strategy use, and control beliefs and memory performance for the aMCI group, the strong relationship between strategy use and memory performance provides impetus for further research into factors that can be used as a means of enhancing strategy use in interventions for aMCI.

Names and numberplates: quasi-everyday associative memory tasks for distinguishing amnestic mild cognitive impairment from healthy aging.

Amnestic mild cognitive impairment (aMCI) delineates a population at high risk for subsequently developing Alzheimer's disease (AD)--that is, people with preclinical AD. Associative episodic memory tasks are particularly sensitive to preclinical AD; however, they often lack ecological validity, which is important when evaluating performance in daily activities. We describe the development of two quasi-everyday associative memory tasks--the La Trobe Face-Name test and the La Trobe Numberplate task--and their utility in profiling and separating 70 aMCI participants from 101 healthy older adults (HOA) compared with standard episodic memory tasks. aMCI participants performed significantly worse overall and demonstrated a greater forgetting rate than HOA on both tasks. The everyday tasks separated aMCI from HOA participants as effectively as standard episodic memory tasks and were well tolerated. These tasks provide a valuable addition to neuropsychologists' toolkits with enhanced ecological (verisimilitude) and face validity for assisting in counseling clients, measuring the effect of interventions, and profiling everyday memory performance in HOA and aMCI.

Knowledge and use of memory strategies in amnestic mild cognitive impairment.

Despite the inclusion of memory strategy training in many interventions for amnestic mild cognitive impairment (aMCI), little research has directly examined knowledge and use of memory strategies in aMCI and their relationship to memory performance in order to guide the development of targeted interventions. The present study aimed to compare strategy knowledge and use between an aMCI and a healthy older adult (HOA) sample, and to determine the contribution of strategy knowledge and use to memory performance in each of these groups. The sample comprised 37 aMCI and 52 HOA participants aged over 60 years. All participants completed questionnaires to assess strategy knowledge and self-reported use of internal and external strategies in everyday life. In addition, strategy use was observed on the measures of retrospective and prospective memory performance (the CVLT-II and the CAMPROMPT). The aMCI group demonstrated decreased strategy knowledge and observed use of internal strategies, although equivalent observed use of external strategies compared with the HOA group. Furthermore, they reported equivalent use of both internal and external strategies. Observed use of strategies was significantly associated with retrospective memory performance for both groups and prospective memory performance for the aMCI group, supporting the inclusion of strategy training in interventions.