Allied health transdisciplinary models of care in hospital settings: A scoping review  .

Improving the productivity of the allied health workforce is a global priority in response to the increasing incidence of chronic disease, associated healthcare costs, and insufficient workforce volume. Team-based healthcare, specifically allied health transdisciplinary teams, might be a solution to improve the utilization of workforce while maintaining high-quality and value-based healthcare. Allied health transdisciplinary teams can be a valuable solution in settings where care is delivered by different allied health professionals. Transdisciplinary teams embrace overlapping skills and blur traditional professional boundaries, allowing one professional to deliver certain aspects of care without eroding the skills and knowledge that each profession offers. The objective of this scoping review is to systematically examine and map the characteristics, outcomes, facilitators, and barriers of contemporary allied health transdisciplinary models of care that have been implemented in hospital settings. The scoping review was guided by the Joanna Briggs Institute methodology and reported in line with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Three screening rounds were completed by two independent reviewers. Included sources were synthesized using descriptive and tabular analysis. Nine studies that evaluated hospital-based allied health transdisciplinary teams were included. One study was a randomized controlled trial, five were experimental quantitative studies, two utilized qualitative analyses, and one was a conference abstract. Most studies reported improvements in time-efficiency, quality of care, and positive stakeholder perceptions. One study reported labor and capital cost savings. Barriers and facilitators of transdisciplinary teams were categorized by the authors as person/interpersonal, workflow, organizational or implementation factors. This review presents some evidence that demonstrates the potential of hospital-based allied health transdisciplinary teams, however high-quality evidence is scarce. Further primary research should focus on stakeholder perceptions, and labor and capital cost outcomes.

Trematode parasites as indicators of an animal component in the diet of the Water Vole Arvicola amphibius.

The intestinal trematode fauna of the Water Vole Arvicola amphibius, (previously A. terrestris), was investigated to determine whether it might provide evidence of an animal component in the diet of this aquatic herbivorous small mammal. Interrogation of the electronic Host-Parasite Database of the Natural History Museum London revealed the presence of fourteen species of intestinal trematode in water voles, infection with each of which would require the ingestion of tissue from an animal intermediate host. The results obtained using these parasite indicators provide convincing evidence of animal components in the diet of A. amphibius and support anecdotal reports of water voles feeding on animal material in the field.

Effects of exercise on vasomotor symptoms in menopausal women: a systematic review and meta-analysis.

The frequency and severity of menopausal vasomotor symptoms negatively impact quality of life. This systematic review evaluates the potential of exercise to relieve the subjective frequency and severity of vasomotor symptoms. We searched four databases to identify randomized controlled trials (RCTs) that evaluated the effect of structured exercise (e.g. aerobic training) on the severity and/or frequency of vasomotor symptoms in menopausal women. Two reviewers independently screened records for eligibility, extracted data and assessed risks of bias and evidence certainty using the Cochrane tool and Grading of Recommendations Assessment, Development and Evaluation (GRADE). When suitable, data were pooled using random-effect meta-analyses. We appraised 21 RCTs involving 2884 participants. Compared to no-treatment control, exercise significantly improved severity of vasomotor symptoms (10 studies, standardized mean difference [SMD] = 0.25; 95% confidence interval [CI]: 0.04 to 0.47, p = 0.02, very low certainty of evidence); the effect size was attenuated when studies with a high risk of bias were excluded (SMD = 0.11, 95% CI: -0.03 to 0.26, p = 0.13). No significant changes in vasomotor frequency were found between exercise and control (SMD = 0.14, 95% CI: -0.03 to 0.31, p = 0.12, high certainty of evidence). In conclusion, exercise might improve vasomotor symptom severity. Future rigorous RCTs addressing the limitations of current review are warranted to explore the optimal exercise prescription principles to target the severity of vasomotor symptoms.

Cancer cachexia: an overview of diagnostic criteria and therapeutic approaches for the accredited practicing dietitian.

BACKGROUND: Cancer cachexia (CC) is a multifactorial syndrome characterised by ongoing skeletal muscle loss that leads to progressive functional impairment driven by reduced food intake and abnormal metabolism. Despite the traditional use of non-volitional weight loss as the primary marker of CC, there is no consensus on how to diagnose and manage CC. METHODS: The aim of this narrative review was to describe and discuss diagnostic criteria and therapeutic approaches for the accredited practicing dietitian with respect to identifying and managing CC. RESULTS: Available diagnostic criteria for cachexia include the cancer-specific (Fearon and Cachexia Score) and general criteria (Evans and Global Leadership Initiative on Malnutrition). These include phenotypic criteria [weight loss, body mass index, (objective) muscle mass assessments, quality of life] and aetiological criteria (disease burden, inflammation, energy expenditure, anorexia and inadequate food intake) and can be incorporated into the nutrition care process (NCP). This informs the nutrition diagnosis of 'chronic disease- or condition-related malnutrition (undernutrition) as related to increased nutrient needs, anorexia or diminished intake due to CC'. Optimal nutrition care and management of CC is multidisciplinary, corrects for increased energy expenditure (via immunonutrition/eicosapentaenoic acid), suboptimal protein/energy intake and poor nutrition quality of life, and includes a physical exercise intervention. Monitoring of intervention efficacy should focus on maintaining or slowing the loss of muscle mass, with weight change as an alternative gross indicator. CONCLUSIONS: Dietitians and the NCP can play an essential role with respect to identifying and managing CC, focusing on aspects of nutrition screening, assessment and intervention.

Deciphering the role of Rhodnius prolixus CYP4G genes in straight and methyl-branched hydrocarbon formation and in desiccation tolerance.

Insect cuticle hydrocarbons are involved primarily in waterproofing the cuticle, but also participate in chemical communication and regulate the penetration of insecticides and microorganisms. The last step in insect hydrocarbon biosynthesis is carried out by an insect-specific cytochrome P450 of the 4G subfamily (CYP4G). Two genes (CYP4G106 and CYP4G107) have been reported in the triatomines Rhodnius prolixus and Triatoma infestans. In this work, their molecular and functional characterization is carried out in R. prolixus, and their relevance to insect survival is assessed. Both genes are expressed almost exclusively in the integument and have an expression pattern dependent on the developmental stage and feeding status. CYP4G106 silencing diminished significantly the straight-chain hydrocarbon production while a significant reduction - mostly of methyl-branched chain hydrocarbons - was observed after CYP4G107 silencing. Molecular docking analyses using different aldehydes as hydrocarbon precursors predicted a better fit of straight-chain aldehydes with CYP4G106 and methyl-branched aldehydes with CYP4G107. Survival bioassays exposing the silenced insects to desiccation stress showed that CYP4G107 is determinant for the waterproofing properties of the R. prolixus cuticle. This is the first report on the in vivo specificity of two CYP4Gs to make mostly straight or methyl-branched hydrocarbons, and also on their differential contribution to insect desiccation.

Quality of life and functional outcomes following pelvic exenteration and sacrectomy.

AIM: The aim was to compare postoperative quality of life (QOL) between patients undergoing pelvic exenteration (PE) and pelvic exenteration with sacrectomy (PES), and to investigate the influence of high (L5-S2) vs low (≤ S3) sacrectomy on QOL and functional outcomes. METHOD: Patients undergoing en bloc sacrectomy as part of a PE and PE alone from 2008 to 2015 were identified from a prospectively maintained database. QOL and functional outcomes were assessed using the 36-Item Short Form Survey, the European Organization for Research and Treatment of Cancer Colorectal Cancer questionnaire and Quality of Life questionnaire, the Revised Musculoskeletal Tumour Scale, the Lower Extremity Functional Scale, the Sexual Health Inventory for Men and the Female Sexual Function Index. RESULTS: Of the 344 patients identified, data were available for 116 patients who underwent PE alone and 140 patients who underwent PES. PES patients had significantly poorer physical component scores (P < 0.001) but not mental component scores (P = 0.17). Of the 140 PES patients, 55 were eligible and were invited to participate in a second functional survey, with 30 patients returning the study questionnaire. High sacrectomy patients, compared with low sacrectomy, had significantly worse lower limb motor function (P = 0.03) and poorer physical (P = 0.001) and mental health component scores (P = 0.02). No differences were found in sexual, bladder and bowel function between high and low sacrectomy patients. CONCLUSIONS: Patients undergoing PES had worse physical component scores compared with PE alone, whereas high sacrectomy patients had significantly worse lower limb motor function and physical and mental component scores but comparable bowel, bladder and sexual functional outcomes compared with low sacrectomy patients.

Leptomeningeal Relapse of Embryonal Rhabdomyosarcoma after 15 years.

Aim Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood. We present the case of a late relapse of RMS to the leptomeninges after 15 years. Methods A 20 year old male presented with a 3 week history of headaches and nausea. He previously had RMS of his right ear diagnosed at age 5 years which was treated with concurrent chemoradiotherapy. An MRI Brain and Spine confirmed extensive leptomeningeal disease and CSF analysis confirmed the presence of recurrent embryonal RMS. Results He completed two cycles of cyclophosphamide and topotecan followed by 45Gy/25Fr of craniospinal radiotherapy. Conclusion Late relapses beyond five years can be seen in up to 9% of patients, however very late recurrences (>10 years) are exceedingly rare. Molecular based methods such as gene expression profiling can aid risk stratification and survivorship clinics may become increasingly useful in following patients with high risk features.

The Impact of Prior Season Vaccination on Subsequent Influenza Vaccine Effectiveness to Prevent Influenza-related Hospitalizations Over 4 Influenza Seasons in Canada.

BACKGROUND: Recent studies have demonstrated the possibility of negative associations between prior influenza vaccines and subsequent influenza vaccine effectiveness (VE), depending on season and strain. We investigated this association over 4 consecutive influenza seasons (2011-2012 through 2014-2015) in Canada. METHODS: Using a matched test-negative design, laboratory-confirmed influenza cases and matched test-negative controls admitted to hospitals were enrolled. Patients were stratified into 4 groups according to influenza vaccine history (not vaccinated current and prior season [referent], vaccinated prior season only, vaccinated current season only, and vaccinated both current and prior season). Conditional logistic regression was used to estimate VE; prior vaccine impact was assessed each season for overall effect and effect stratified by age (<65 years, ≥65 years) and type/subtype (A/H1N1, A/H3N2, influenza B). RESULTS: Overall, mainly nonsignificant associations were observed. Trends of nonsignificant decreased VE among patients repeatedly vaccinated in both prior and current season relative to the current season only were observed in the A/H3N2-dominant seasons of 2012-2013 and 2014-2015. Conversely, in 2011-2012, during which B viruses circulated, and in 2013-2014, when A/H1N1 circulated, being vaccinated in both seasons tended to result in a high VE in the current season against the dominant circulating subtype. CONCLUSIONS: Prior vaccine impact on subsequent VE among Canadian inpatients was mainly nonsignificant. Even in circumstances where we observed a trend of negative impact, being repeatedly vaccinated was still more effective than not receiving the current season's vaccine. These findings favor continuation of annual influenza vaccination recommendations, particularly in older adults. CLINICAL TRIALS REGISTRATION: NCT01517191.

Benchmarking nurse outcomes in Australian Magnet® hospitals: cross-sectional survey.

BACKGROUND: Positive reports of nursing-related outcomes such as quality nursing care, nursing engagement with work and good practice environment are crucial in attaining and maintaining Magnet® designation. The majority of Magnet®-designated organisations (N = 482) are in the USA, with their aggregate nursing outcomes widely published as benchmark data. Australian Magnet® outcomes have not been aggregated or published to date. METHODS: The aims are to benchmark educational preparation, occupational burnout, job satisfaction, intention to leave and working environment of nurses in Australian Magnet®-designated facilities and to determine the reliability of the Practice Environment Scale-Australia.The design is a cross-sectional multisite survey set in all three Australian Magnet®-designated organisations.The demographics included age, gender, level of education, years in practice, level of seniority and position title. Two items measured job satisfaction and intent to stay in current employment. The Maslach Burnout Inventory explored the three domains of nursing engagement: depersonalisation, personal achievement and emotional exhaustion. The Australian version of the Practice Environment Scale interrogated participants' perceptions of their work environments. RESULTS: 2004 nurses participated (response rate 45.9%). Respondents' mean age was 39.2 years (range 20-72). They were predominantly female and had worked in their current facility for more than 5 years. Eighty five percent had a minimum of a Bachelor's degree. Eighty-six percent of respondents were satisfied or very satisfied with their current position. Eighty eight percent had no intention of leaving their current employer within the next 12 months. Participants rated their hospitals highly in all domains of the practice environment. Respondents reported less burnout in the personal accomplishment and depersonalisation domains than in the emotional exhaustion domain, in which they reported average levels of burnout. The internal consistency of the Practice Environment Scale-Australia was confirmed in this sample (Cronbach α's 0.87-0.9 for subscales and 0.89 for composite score). CONCLUSION: In this paper, we present nursing outcome data from all Australian Magnet® hospitals for the first time. This provides a benchmark that facilitates comparison with nursing outcomes published by Australian non-Magnet® hospitals and with international Magnet® organisations.

Validation of a frailty index in older cancer patients with solid tumours.

BACKGROUND: Frailty is an indicator of physiological reserve in older people. In non-cancer settings, frailty indices are reliable predictors of adverse health outcomes. The aims of this study were to 1) derive and validate a frailty index (FI) from comprehensive geriatric assessment (CGA) data obtained in the solid tumour chemotherapy setting, and 2) to explore whether the FI-CGA could predict chemotherapy decisions and survival in older cancer patients with solid tumours. METHODS: Prospective cohort study of a consecutive series sample of 175 cancer patients aged 65 and older with solid tumours. A frailty index was calculated using an accumulated deficits model, coding items from the comprehensive geriatric assessment tool administered prior to chemotherapy decision-making. The domains of physical and cognitive functioning, nutrition, mood, basic and instrumental activities of daily living, and comorbidities were incorporated as deficits into the model. RESULTS: The FI-CGA had a right-skewed distribution, with median (interquartile range) of 0.27 (0.21-0.39). The 99% limit to deficit accumulation was below the theoretical maximum of 1.0, at 0.75. The FI-CGA was significantly related (p < 0.001) to vulnerability as assessed by the Vulnerable Elders Survey-13 and to medical oncologists' assessments of fitness or vulnerability to treatment. Baseline frailty as determined by the FI-CGA was also associated with treatment decisions (Treatment Terminated, Treatment Completed, No Planned Treatment) (p < 0.001), with the No Planned Treatment group significantly frailer than the other two groups. CONCLUSION: The FI-CGA is a potentially useful adjunct to cancer clinical decision-making that could predict chemotherapy outcomes in older patients with solid tumours.

Patterns of mortality in modern stroke care

Background Stroke is a leading cause of death. We looked at the causes (direct and indirect) of in-hospital mortality in a modern stroke unit over a two-year period. Methods We reviewed medical charts of stroke deaths in hospital from 2014-2015 inclusive. Data on stroke type, aetiology, age, length of stay, comorbidities, and documented cause of death were recorded. All patients were included. Results 518 patients were admitted acutely to the stroke service. Overall death rate was 7.5% (n=39). Of fatal strokes 29 (74%) were ischaemic. Average age 78.6 years. Mean survival was 26.4 days (range 1-154). 19 (49%) patients had atrial fibrillation. Forty-nine percent of deaths were due to pneumonia, and 33% were due to raised intracranial pressure. Discussion Mortality rate in our stroke service has decreased from 15% in 1997, and now appears dichotomised into early Secondary Stroke Related Cerebral Events (SSRCEs) and later infections.

Biomechanical markers and theoretical concepts related to haemophilic ankle and subtalar joint arthropathy: introducing the term 'haemophilic tarsal pan-arthropathy'.

BACKGROUND: Although regular factor replacement can reduce the incidence of joint bleeds and slow down the development of haemophilic arthropathy, the ankle joint remains particularly vulnerable even in children with haemophilia on primary or secondary prophylaxis and is now the primary joint affected. The heterogeneity in the pathoaetiology of haemophilic ankle arthropathy means that the functional consequences of early stage of ankle arthropathy are difficult to define as early morphological and structural changes can be observed in clinically asymptomatic ankles. In this context, understanding biomechanics of the normal and arthritic foot is complex and difficult to quantify unless considering the foot as multiple functional segments using more sophisticated assessment tools such as multisegment foot models. However, this understanding can undoubtedly aid in the analysis of an underlying clinical problem and provide a strategic basis for a more optimal management. AIMS: The purpose of this narrative review was firstly to revise information on the anatomy and biomechanics of the foot and ankle. Finally, related biomechanical markers of human motor performance, which are potentially implicated in the development of haemophilic ankle arthropathy, will be discussed based on published literature and expert opinion. MATERIALS AND METHODS: Searches in published literature were limited to the year 2000 onwards. RESULTS: Although the ankle (tibiotalar joint) is the most commonly affected joint, associated subtalar joint (SJT) involvement is often seen. This would therefore imply that an alternative phraseology might be better. DISCUSSION AND CONCLUSION: In this context, the authors propose the use of 'haemophilic tarsal pan-arthropathy' (HTPA) which encompasses both tibiotalar and subtalar joints.

Development and Evaluation of a Molecular Diagnostic Method for Rapid Detection of Histoplasma capsulatum var. farciminosum, the Causative Agent of Epizootic Lymphangitis, in Equine Clinical Samples.

Histoplasma capsulatum var. farciminosum, the causative agent of epizootic lymphangitis (EZL), is endemic in parts of Africa. Diagnosis based on clinical signs and microscopy lacks specificity and is a barrier to further understanding this neglected disease. Here, a nested PCR method targeting the internal transcribed spacer (ITS) region of the rRNA operon was validated for application to equine clinical samples. Twenty-nine horses with signs of EZL from different climatic regions of Ethiopia were clinically examined. Blood samples and aspirates of pus from cutaneous nodules were taken, along with blood from a further 20 horses with no cutaneous EZL lesions. Among the 29 horses with suspected cases of EZL, H. capsulatum var. farciminosum was confirmed by extraction of DNA from pus and blood samples from 25 and 17 horses, respectively. Positive PCR results were also obtained with heat-inactivated pus (24 horses) and blood (23 horses) spotted onto Whatman FTA cards. Two positive results were obtained among blood samples from 20 horses that did not exhibit clinical signs of EZL. These are the first reports of the direct detection of H. capsulatum var. farciminosum in equine blood and at high frequency among horses exhibiting cutaneous lesions. The nested PCR outperformed conventional microscopic diagnosis, as characteristic yeast cells could be observed only in 14 pus samples. The presence of H. capsulatum var. farciminosum DNA was confirmed by sequencing the cloned PCR products, and while alignment of the ITS amplicons showed very little sequence variation, there was preliminary single nucleotide polymorphism-based evidence for the existence of two subgroups of H. capsulatum var. farciminosum This molecular diagnostic method now permits investigation of the epidemiology of EZL.

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.

AIMS: HNF1A gene mutations are the most common cause of maturity-onset diabetes of the young (MODY) in the UK. Persons with HNF1A-MODY display sensitivity to sulphonylurea therapy; however, the long-term efficacy is not established. There is limited literature as to the prevalence of micro- and macrovascular complications in this unique cohort. The aim of this study was to determine the natural progression and clinical management of HNF1A-MODY diabetes in a dedicated MODY clinic. METHODS: Sixty patients with HNF1A-MODY and a cohort of 60 BMI-, age-, ethnicity- and diabetes duration-matched patients with Type 1 diabetes mellitus participated in the study. All patients were phenotyped in detail. Clinical follow-up of the HNF1A-MODY cohort occurred on a bi-annual basis. RESULTS: Following a genetic diagnosis of MODY, the majority of the cohort treated with sulphonylurea therapy remained insulin independent at 84-month follow-up (80%). The HbA1c in the HNF1A-MODY group treated with sulphonylurea therapy alone improved significantly over the study period [from 49 (44-63) mmol/mol, 6.6 (6.2-7.9)% to 41 (31-50) mmol/mol, 5.9 (5-6.7)%; P = 0.003]. The rate of retinopathy was significantly lower than that noted in the Type 1 diabetes mellitus group (13.6 vs. 50%; P = 0.0001).There was also a lower rate of microalbuminuria and cardiovascular disease in the HNF1A-MODY group compared with the Type 1 diabetes mellitus group. CONCLUSIONS: This study demonstrates that the majority of patients with HNF1A-MODY can be maintained successfully on sulphonylurea therapy with good glycaemic control. We note a significantly lower rate of micro- and macrovascular complications than reported previously. The use of appropriate therapy at early stages of the disorder may decrease the incidence of complications.

Patient-Generated Subjective Global Assessment Short Form (PG-SGA SF) is a valid screening tool in chemotherapy outpatients.

PURPOSE: In the oncology population where malnutrition prevalence is high, more descriptive screening tools can provide further information to assist triaging and capture acute change. The Patient-Generated Subjective Global Assessment Short Form (PG-SGA SF) is a component of a nutritional assessment tool which could be used for descriptive nutrition screening. The purpose of this study was to conduct a secondary analysis of nutrition screening and assessment data to identify the most relevant information contributing to the PG-SGA SF to identify malnutrition risk with high sensitivity and specificity. METHODS: This was an observational, cross-sectional study of 300 consecutive adult patients receiving ambulatory anti-cancer treatment at an Australian tertiary hospital. Anthropometric and patient descriptive data were collected. The scored PG-SGA generated a score for nutritional risk (PG-SGA SF) and a global rating for nutrition status. Receiver operating characteristic curves (ROC) were generated to determine optimal cut-off scores for combinations of the PG-SGA SF boxes with the greatest sensitivity and specificity for predicting malnutrition according to scored PG-SGA global rating. RESULTS: The additive scores of boxes 1-3 had the highest sensitivity (90.2 %) while maintaining satisfactory specificity (67.5 %) and demonstrating high diagnostic value (AUC = 0.85, 95 % CI = 0.81-0.89). The inclusion of box 4 (PG-SGA SF) did not add further value as a screening tool (AUC = 0.85, 95 % CI = 0.80-0.89; sensitivity 80.4 %; specificity 72.3 %). CONCLUSIONS: The validity of the PG-SGA SF in chemotherapy outpatients was confirmed. The present study however demonstrated that the functional capacity question (box 4) does not improve the overall discriminatory value of the PG-SGA SF.

Heart failure following cancer treatment: characteristics, survival and mortality of a linked health data analysis.

BACKGROUND: Cardiotoxicity resulting in heart failure is a devastating complication of cancer therapy. A patient may survive cancer only to develop heart failure (HF), which has a higher mortality rate than some cancers. AIM: This study aimed to describe the characteristics and outcomes of HF in patients with blood or breast cancer after chemotherapy treatment. METHODS: Queensland Cancer Registry, Death Registry and Hospital Administration records were linked (1996-2009). Patients were categorised as those with an index HF admission (that occurred after cancer diagnosis) and those without an index HF admission (non-HF). RESULTS: A total of 15 987 patients was included, and 1062 (6.6%) had an index HF admission. Median age of HF patients was 67 years (interquartile range 58-75) versus 54 years (interquartile range 44-64) for non-HF patients. More men than women developed HF (48.6% vs 29.5%), and a greater proportion in the HF group had haematological cancer (83.1%) compared with breast cancer (16.9%). After covariate adjustment, HF patients had increased mortality risk compared with non-HF patients (hazard ratios 1.67 (95% confidence interval, 1.54-1.81)), and 47% of the index HF admission occurred within 1 year from cancer diagnosis and 70% within 3 years. CONCLUSION: Cancer treatment may place patients at a greater risk of developing HF. The onset of HF occurred soon after chemotherapy, and those who developed HF had a greater mortality risk.

Development of haemophilic arthropathy of the ankle: results of a Delphi consensus survey on potential contributory factors.

The evidence base to support the prevention of haemophilic arthropathy remains incomplete. In particular there is a lack of evidence regarding the potential influence of non-haematological factors. Additionally the ankle joint, the most affected joint in the primary prophylaxis era, has biochemical and structural features that should offer some protection from degeneration. Therefore, this study aimed to ascertain expert opinions on the potential contributory factors in order to inform a research agenda. The Delphi method, a group forum technique to achieve consensus of expert opinion was selected. It allows anonymous participation of a geographically disparate panel. A modified three-round design was used with a multi-professional international panel from 11 countries, 280 suggestions with the potential to influence arthropathy development were submitted in Round 1. These were analysed for theme, giving 47 factors in four categories: musculoskeletal intrinsic, extrinsic affecting physical health, compliance, education and non-haematological management, and haemophilia related. Subsequently, consensus was ascertained on their importance for study. At survey completion, 31 panellists (86%) completed. 41 factors reached the pre-selected level for consensus and 6 were rejected. The breadth of the factors put forward suggests that the panel believe pathogenesis of HA is multifactorial. Panel composition indicates results with high face and content validity capable of guiding future research. Developing an understanding of the relative influence of factors in each patient has the potential of not only individualizing replacement therapy with regard to frequency and trough levels but also individualizing other interventions that promote musculoskeletal health.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

BACKGROUND: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. METHODS: In the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD). RESULTS: Our sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. CONCLUSION: Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.