bluuebunny/crossref_metadata_2025_split huggingface dataset:
023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia
Authors: Kariyawasam Didu Sanduni , Samapio Hugo , Mowat David , Farrar Michelle 
Published: July 2019

IntroductionDuchenne Muscular Dystrophy (DMD), an X-linked recessive genetic disorder is maternally inherited in approximately two-thirds of affected boys. Female relatives have carrier risk. This study proposes that proactive genetic screening and counselling for patients’ relatives, contributes to reductions in preventable cases and ultimately disease incidence.MethodsA retrospective study of cases born in NSW from 1991–2013 was completed, using an electronic database of live male and prenatally diagnosed patients with DMD, referred to our tertiary service. Proband genotype/phenotype, pedigree, carrier-risk and extent of cascade screening were reviewed. Variance analysis (two-way ANOVA) was used to analyse changing trends in preventable cases.Results77 cases were identified. Mean age at presentation fell by 14-months over time. Probands were defined as ‘theoretically preventable’ when disease was identified in previous generations, or in males aged over 6 years, within the same generation. Fifteen (19%) cases were preventable, with a statistically significant decline in such cases over time.Cascade screening and prenatal testing of subsequent pregnancies was offered to all carrier mothers and female relatives in the mother’s generation. Fifteen women underwent prenatal testing. Three affected male foetuses were identified, with one live affected male being born, after parents proceeded with the pregnancy.ConclusionRigorous and expansive approaches to cascade-screening/counselling may account for decreases in preventable cases. Age of diagnosis has fallen, providing potential for more timely intervention, aided by newer diagnostic techniques that allow more accurate proband genotyping. Prenatal testing identified small numbers of affected males, facilitating parental decision-making in these select cases.
064 Parkinson’s disease and the gastrointestinal microbiome: clinicopathological correlations and controversies
Authors: Lubomski Michal , Tan Ai Huey , Lim Shen-Yang , Holmes Andrew , Davis Ryan L , Sue Carolyn M 
Published: July 2019

IntroductionThere has been a recent surge in interest around the gastrointestinal microbiome (GM) and its association with Parkinson’s disease (PD). The GM mediates interactions between the brain and the gut via the ‘microbiota-gut-brain-axis’. Compelling studies suggest that a shift in GM composition may play an important role in the pathogenesis and progression of PD.MethodsWe conducted a literature review exploring the pathological association between the GM, α-synuclein spread and intestinal inflammation in PD. We also summarised patterns and correlations of gut microflora seen in clinical studies of the GM in PD.ResultsTo date 14 mainly cross-sectional studies from 7 countries have reported GM alterations in PD. All studies described significant alterations between PD and healthy control groups across multiple bacterial families, genera and species. Several studies suggested that putative ‘pro-inflammatory’ bacteria were significantly more abundant, while putative beneficial bacteria were less abundant in PD. Various complex microbiota-gut-brain-axis interactions have been proposed due to alterations in the GM, inferred by changes in gut mucosal integrity and permeability, short-chain-fatty-acid metabolism, oxidative stress and inflammation.ConclusionsAcross the recent GM studies in PD, alterations in bacterial taxa have been repeatedly associated with various clinicopathological features, endorsing a plausible biological link between the GM and PD. Mechanisms involved in the pathogenesis of PD due to GM changes are complex and require ongoing study.
074 Early australian experience with erenumab for chronic migraine
Authors: Cheng Shuli , Jenkins Bronwyn , Hutton Elspeth 
Published: July 2019

IntroductionErenumab is available in Australia since October 2018. We review the effectiveness and safety in 2 Australian headache centres.MethodsErenumab (70 mg or 140 mg) was prescribed. We monitored headache days, migraine days, analgesic use, adverse reactions, Headache Impact Test-6 (HIT6) score and Migraine Disability Assessment (MiDAS) score, at baseline and at 3 months. Primary outcomes were reduction in headache and migraine days, and adverse effects. Secondary outcomes were improvement in functional scores and analgesic use.Results65 patients (ages 18–73; mean 44 years) commencing Erenumab were assessed before and after 3 monthly treatments. The duration of chronic migraine (CM) ranged from 1 to 40 years, with 3 to 16 previous failed prophylactic treatments.There was a >50% response in overall headache days and migraine days in 29% (19/65) and 46% (27/59), respectively. There was a modest (10–49%) response in overall headache days and migraine days in 29% (19/65) and 27% (18/59), respectively. There was no improvement in headache days and migraines in 42% (27/65) and 27% (14/59), respectively.At onset, the mean HIT-6 and MiDAS scores were 66 and 65, decreasing after 3 treatments to 59 and 32, respectively. The mean monthly days taking triptan and codeine medications reduced from 9 and 6 days, to 5 and 3 days, respectively.There were few reported side effects.ConclusionThis Australian cohort in tertiary referral refractory migraine patients achieved a significant rate of reduced headache and migraine days with good safety and tolerability.
096 Assessment of the efficacy of erenumab during the open-label treatment (13–24 weeks) of subjects with episodic migraine who failed 2–4 prior preventive treatments: results of the LIBERTY study
Authors: Giles Lauren , Reuter Uwe , Goadsby Peter , Lanteri-Minet Michel , Hours-Zesiger Peggy , Fernandes Chrystel , Ferrari Michel , Klatt Jan 
Published: July 2019

IntroductionTo assess efficacy of erenumab in the first three months of the open-label extension phase (OLEP; 13–24 weeks) of the LIBERTY study.MethodsIn the double-blind treatment phase (DBTP), 246 patients were randomized to placebo and erenumab 140 mg for 12 weeks, following which, patients completing that phase (N=240) were enrolled in OLEP, to receive monthly erenumab 140 mg. Outcomes measured monthly throughout to week 24 were achievement of at least 50%/75%/100% reduction in monthly migraine days (MMD), change from DBTP baseline in MMD, monthly acute migraine-specific medication days (MSMD), Headache Impact Test (HIT-6TM) total score, everyday activities (EA) and physical impairment (PI) as measured by the Migraine Physical Function Impact Diary (MPFID).ResultsOverall, 228/240(95.0%) patients completed the 24 week visit of the OLEP. In the overall population at Week 24, 39.2%, 15.9% and 7.0% patients achieved ≥50%/≥75%/100% reduction in MMD. The mean (standard deviation) change from DBTP baseline in MMD was −2.7(4.4) and −1.4(3.0) in MSMD; and −7.6(8.0), −2.5(9.2) and −4.0(9.0) in HIT-6TM, MPFID-PI and MPFID-EA scores respectively. Patients with continuous use of erenumab showed sustained efficacy in all outcomes assessed. Patients who switched from placebo to erenumab in the OLEP showed improvement from the first measurement at Week 16 on all outcomes assessed.ConclusionsEfficacy of erenumab was sustained throughout 24 weeks in a hard to treat patient population with multiple prior preventive treatment failures. Overall, efficacy data over 24 weeks (assessed over weeks 13–16,17–20 and 21–24) was generally in line with prior erenumab trials.
100 Recent trends in stroke reperfusion in new zealand
Authors: Leighs Andrew , Ranta Anna 
Published: July 2019

IntroductionStroke reperfusion therapy improves patient outcomes. Here we describe recent trends in the stroke reperfusion intervention rates, treatment delays, and complications across New Zealand.MethodAll 20 DHBs enter acute stroke reperfusion treatment information into a compulsory, centralized, Ministry of Health (MoH) approved and funded Stroke Register. The data from 1/1/2018 through 30/9/18 was cleaned and analysed to explore trends in intervention rates, time delays, and complication rates.ResultsIn the nine-month study period there were a total of 544 (320 males, mean (SD) age 70.6 (14.5) years) patients thrombolysed and 193 patients underwent thrombectomy. For the January-June period, for which MoH stroke denominator rates were available, there was a thrombolysis rate of 10.4%. The overall median time (interquartile range, IQR) for onset-to-door was 76 minutes (48–118), door-to-computed tomography (CT) scan was 23 (15–36) minutes and CT-to-needle was 33 (20–51) minutes. The overall median (IQR) time delay from hospital arrival to thrombolysis was 59 (40–85) minutes and onset-to-needle median (IQR) time was 145 (110–196). There were a total of 26 (4.8%) symptomatic intracerebral haemorrhages (sICH) for the nine-month period. This compares with a thrombolysis rate of 9.85% and door-to-needle time median of 64 minutes in 2017.ConclusionThrombolysis rates in New Zealand continue to rise and now surpass the more recent 10% Ministry of Health target. The continued reduction in door-to-needle time is also an indication of continued service improvement resulting in better patient outcome. However, there are still to be opportunities for improvement.
Double stent assisted coiling of intracranial bifurcation aneurysms in Y and X configurations with the Neuroform ATLAS stent: immediate and mid term angiographic and clinical follow-up
Authors: Ciccio Gabriele , Robert Thomas , Smajda Stanislas , Fahed Robert , Desilles Jean Philippe , Redjem Hocine , Escalard Simon , Mazighi Mikael , Blanc Raphael , Piotin Michel 
Published: July 2019

PurposeSelf-expandable stents have broadened the spectrum of endovascular treatment of intracranial aneurysms. However, procedures involving double stenting in Y/X configurations carry a relatively high risk of procedural complications. The Neuroform ATLAS, the evolution of Neuroform EZ, is a nitinol self-expanding hybrid/open cell stent which can be delivered through a low profile 0.017 inch catheter. We present our experience in the treatment of intracranial aneurysms with this stent in Y and X configurations.Materials and methodsWe prospectively maintained a database from consecutive patients who underwent double stent assisted coiling with the Neuroform ATLAS, from July 2015 to February 2019. Clinical and angiographic results were analyzed.Results55 patients harboring 55 bifurcation aneurysms were treated with double stenting: 52 ‘Y’ configurations, 3 ‘X’ configurations. Deployment was successful in all cases. Post-treatment control angiography showed complete occlusion in 33 cases (60%), neck remnant in 8 cases (14.5%), and incomplete occlusion in 14 cases (25.4%). The overall symptomatic periprocedural complication rate was 12.7%. 38 aneurysms underwent follow-up (69%, mean duration 16 months): 33 aneurysms (87%) were completely occluded, 3 aneurysms (8%) had a neck remnant, and 2 aneurysms (5%) were incompletely occluded.ConclusionThe Neuroform ATLAS is an effective device for treatment of bifurcation aneurysms, allowing good conformability, a high level of navigability, and easy mesh crossing to perform Y/X stenting procedures. The rate of procedural complications remains non-negligible, and an indication for a double stenting procedure should be carefully discussed in a multidisciplinary meeting.
Altered mitochondrial network morphology and regulatory proteins in mitochondrial quality control in myotubes from severely obese humans with or without type 2 diabetes
Authors: Gundersen Anders E. , Kugler Benjamin A. , McDonald Paul M. , Veraksa Alexey , Houmard Joseph A. , Zou Kai 
Published: July 2019

Healthy mitochondrial networks are maintained via balanced integration of mitochondrial quality control processes (biogenesis, fusion, fission, and mitophagy). The purpose of this study was to investigate the effects of severe obesity and type 2 diabetes (T2D) on mitochondrial network morphology and expression of proteins regulating mitochondrial quality control processes in cultured human myotubes. Primary human skeletal muscle cells were isolated from biopsies from lean, severely obese nondiabetic individuals and severely obese type 2 diabetic individuals (n = 8–9/group) and were differentiated to myotubes. Mitochondrial network morphology was determined in live cells via confocal microscopy and protein markers of mitochondrial quality control were measured by immunoblotting. Myotubes from severely obese nondiabetic and type 2 diabetic humans exhibited fragmented mitochondrial networks (P < 0.05). Mitochondrial fission protein Drp1 (Ser616) phosphorylation was higher in myotubes from severely obese nondiabetic humans when compared with the lean controls (P < 0.05), while mitophagy protein Parkin expression was lower in myotubes from severely obese individuals with T2D in comparison to the other groups (P < 0.05). These data suggest that regulatory proteins in mitochondrial quality control processes, specifically mitochondrial fission protein Drp1 (Ser616) phosphorylation and mitophagy protein Parkin, are intrinsically dysregulated at cellular level in skeletal muscle from severely obese nondiabetic and type 2 diabetic humans, respectively. These differentially expressed mitochondrial quality control proteins may play a role in mitochondrial fragmentation evident in skeletal muscle from severely obese and type 2 diabetic humans. Novelty Mitochondrial network morphology and mitochondrial quality control proteins are intrinsically dysregulated in skeletal muscle cells from severely obese humans with or without T2D.
Closure conversion is safe for space
Authors: Paraskevopoulou Zoe , Appel Andrew W. 
Published: July 2019

We formally prove that closure conversion with flat environments for CPS lambda calculus is correct (preserves semantics) and safe for time and space, meaning that produced code preserves the time and space required for the execution of the source program.
We give a cost model to pre- and post-closure-conversion code by formalizing profiling semantics that keep track of the time and space resources needed for the execution of a program, taking garbage collection into account. To show preservation of time and space we set up a general, "garbage-collection compatible", binary logical relation that establishes invariants on resource consumption of the related programs, along with functional correctness. Using this framework, we show semantics preservation and space and time safety for terminating source programs, and divergence preservation and space safety for diverging source programs.
We formally prove that closure conversion with flat environments for CPS lambda calculus is correct (preserves semantics) and safe for time and space, meaning that produced code preserves the time and space required for the execution of the source program.
We give a cost model to pre- and post-closure-conversion code by formalizing profiling semantics that keep track of the time and space resources needed for the execution of a program, taking garbage collection into account. To show preservation of time and space we set up a general, "garbage-collection compatible", binary logical relation that establishes invariants on resource consumption of the related programs, along with functional correctness. Using this framework, we show semantics preservation and space and time safety for terminating source programs, and divergence preservation and space safety for diverging source programs.
This is the first formal proof of space-safety of a closure-conversion transformation. The transformation and the proof are parts of the CertiCoq compiler pipeline from Coq (Gallina) through CompCert Clight to assembly language. Our results are mechanized in the Coq proof assistant.
Chasing The Dream – Self-Determination on a Non-territorial Basis for the Noongar Traditional Owners in the South West of Australia
Authors: De Villiers Bertus 
Published: July 2019

Abstract
Self-determination for Aboriginal people in Australia has been a long sought after yet difficult objective to reach. The recently concluded Noongar Settlement in the state of Western Australia opens new opportunities and could potentially set a new benchmark for non-territorial autonomy and self-government for an Aboriginal community. The Noongar Settlement exceeds the more traditional settlements of a native title claim since it provides elaborate institutions for self-government albeit by way of private bodies corporate. The bodies corporate for the Noongar people would enable them to make and administer decisions; offer services; undertake management of public conservation areas; and advocate for the best interests of their community. This privatised form of self-government may not only provide new impetus to other land claim processes in Australia, it may also address the often-heard demands from Aboriginal people for a treaty to be entered into between themselves and the government of Australia.
Type specimens, samples of live individuals and the Galapagos Pink Land Iguana
Authors: DONEGAN THOMAS M. 
Published: July 2019

The nomenclatural implications of Gentile & Snell (2009)'s innovations in the designation of a type specimen - that is sampled and tagged but not killed - are discussed. The paper also responds to Nemésio (2009)'s criticism of Donegan (2008), where I argued that descriptions based on samples of live individuals are valid. I also discuss whether recent descriptions of such a nature involve a different degree of scientific rigour to other descriptions.
Six new eriophyoid mites (Acari: Eriophyoidea) associated with Ficus spp. (Moraceae) from China
Authors: WANG GUOQUAN , WEI SUIGAI , YANG DING 
Published: July 2019

Six new species of the family Eriophyidae associated with the plant genus Ficus (Moraceae) from southern China are described and illustrated in this paper: Colopodacus variegatae sp. nov. infesting F. variegata Bl. var. chlorocarpa (Benth.) King; C. yunnanensis sp. nov. infesting F. benjamina Linn., F. tinctoria Forst. f. var. gibbosa and F. virens Ait. var. sublanceolata (Miq.) Corner; Gammaphytoptus ficus sp. nov. infesting F. variegata Bl. var. chlorocarpa (Benth.) King; Glyptacus microcarpae sp. nov. infesting F. microcarpa Linn., F. hispida Linn., F. benjamina Linn., and F. altissima Bl.; Shevtchenkella hainanensis sp. nov. infesting F. variegata Bl. and Tegonotus hispidae sp. nov. infesting F. hispida Linn.
Prevalence of systemic lupus erythematosus in Colombia: data from the national health registry 2012–2016
Authors: Fernández-Ávila D G , Bernal-Macías S , Rincón-Riaño D N , Gutiérrez Dávila J M , Rosselli D 
Published: July 2019

Introduction Registries are essential to keep track of systemic lupus erythematosus (SLE) epidemiology and to provide better care to patients. The Colombian Ministry of Health has adopted a registry (SISPRO) to gather comprehensive information coming from the Colombian health system, which provides close to universal coverage (around 95%). The information collected from SISPRO is available for scientific analysis. Objectives We used data collected by SISPRO to estimate prevalence and specific characteristics of patients with SLE registered from January 2012 to December 2016. Methods This is a descriptive epidemiological study using the International Statistical Classification of Diseases and Related Health Problems as search terms related to SLE, based on SISPRO data. Criteria for diagnosis are not explicitly addressed in each individual case. Results National records report 41,804 patients with a diagnosis of SLE for an estimated prevalence of 91.9/100,000 subjects (based on a total population of 47,663,162), being more frequent in women (89% cases). When adjusted, female and male prevalences were 204.3 and 20.2 per 100,000 (ratio 10.1) with a 7.9:1 female:male ratio, and were highest in the 45–49-year age group. Conclusions This is the first study that describes demographic characteristics of SLE in Colombia, with useful information for decision makers. It also suggests a similar prevalence to other countries.
Randomized cluster trial of a parenting program in Chile: Key mediators in the decrease in behavior problems in preschool children
Authors: Cova Félix , Rincón Paulina , Bustos Claudio , Streiner David , King Michael , Saldivia Sandra , Inostroza Carolina , Grandón Pamela , Novoa Consuelo 
Published: July 2019

Background: Parenting training is a proven strategy for the promotion of positive parenting practices and for the prevention and treatment of behavior problems in children. The processes that explain this efficacy are less clear. The aim of this study was to assess the mediating role of parenting practice modification, encouraged through the implementation of a universal parenting training program, for the decrease of behavior problems in 3- to 6-year-old children. Method: A cluster randomized trial was carried out in 19 educational centers in low and middle socioeconomic areas. A total of 178 families received the program and 154 of them were the control group. The following parenting practices were assessed: positive reinforcement, involvement, inconsistency, unsuitable treatment behaviors and physical punishment, as well as hostility and humiliation behaviors. Parent–child interaction was also assessed using an observational instrument. A multiple mediation analysis was carried out, identifying the indirect effects. Results: Reduction of harsh discipline and physical punishment, and parental inconsistency mediated the effects observed in the reduction of child behavior problems during the program. Conclusion: Within Chilean families, harsh discipline, physical punishment, and parental inconsistency are important aspects to be considered in the implementation of universal parenting training programs.
Intensive home care supports, informal care and private provision for people with dementia in Ireland
Authors: Carter Laura , O’Neill Stephen , Keogh Fiona , Pierce Maria , O’Shea Eamon 
Published: July 2019

Background This study analysed the cost of intensive home care packages for people with dementia living on the boundary of home care and residential care facilities in Ireland. The cost of community-based services and supports, including informal care and private out-of-pocket expenditure, was compared to the cost of public and private residential care. Methods The study recruited 42 people with dementia and/or their caregivers, who were living on the boundary of home care and residential care, to an in-depth study on the cost of care. The Resource Utilization in Dementia scale was used to collect data on the utilization of standard formal care and informal care by people with dementia in receipt of an intensive home care package. Information on private out-of-pocket expenditure on care was also collected. Unit costs were assigned and community-based care was compared with public and private residential care alternatives. Results The average weekly cost of home care, including the intensive home care package, standard formal community care provision, medications, consumption and housing, was estimated at €1127. This is lower than the average weekly cost of public long-stay care facilities (€1526) and around the same as for private nursing home fees in the Dublin region (€1149). When the opportunity cost valuation of informal care is included, the cost of home care is higher than all types of residential care. Adding private care expenditure further inflates the cost of home care. Conclusion Keeping highly dependent people with dementia living at home is not cheap and raises questions about optimal resource allocation on the boundary of home care and residential care. Even with significant public spending on intensive home care packages, family care costs remain high. So too does private out-of-pocket expenditure on care for some people with dementia.