Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: The Carter effect

Background: Idiopathic clubfoot is approximately twice as common in males than in females. The reason for this discrepancy is unclear butmay represent an inherent difference in the susceptibility to thedeformity. If this difference is due to genetic factors it is predicted that in order to inherit clubfoot, females need to have a greater number of susceptibility genes than males. Females would also be more likely to transmit the disease to their children and have siblings with clubfoot. This phenomenon is known as the Carter effect, and the presence of such an effect supports a multifactorial threshold model of inheritance. Methods: Ninety-seven multiplex families with more than one individual with idiopathic clubfoot were studied. The study included1093 individuals: 291with clubfoot and802unaffected relatives. Ratesof transmissionby the thirty-seven affected fathers and twenty-six affected mothers were calculated, and the prevalence among siblings was determined in the nuclear families of affected persons

Integrated Application of Active Controls (IAAC) technology to an advanced subsonic transport project: Current and advanced act control system definition study. Volume 2: Appendices

The current status of the Active Controls Technology (ACT) for the advanced subsonic transport project is investigated through analysis of the systems technical data. Control systems technologies under examination include computerized reliability analysis, pitch axis fly by wire actuator, flaperon actuation system design trade study, control law synthesis and analysis, flutter mode control and gust load alleviation analysis, and implementation of alternative ACT systems. Extensive analysis of the computer techniques involved in each system is included

Health workforce metrics pre- and post-2015: A stimulus to public policy and planning

© 2017 The Author(s). Background: Evidence-based health workforce policies are essential to ensure the provision of high-quality health services and to support the attainment of universal health coverage (UHC). This paper describes the main characteristics of available health workforce data for 74 of the 75 countries identified under the 'Countdown to 2015' initiative as accounting for more than 95% of the world's maternal, newborn and child deaths. It also discusses best practices in the development of health workforce metrics post-2015. Methods: Using available health workforce data from the Global Health Workforce Statistics database from the Global Health Observatory, we generated descriptive statistics to explore the current status, recent trends in the number of skilled health professionals (SHPs: physicians, nurses, midwives) per 10 000 population, and future requirements to achieve adequate levels of health care in the 74 countries. A rapid literature review was conducted to obtain an overview of the types of methods and the types of data sources used in human resources for health (HRH) studies. Results: There are large intercountry and interregional differences in the density of SHPs to progress towards UHC in Countdown countries: a median of 10.2 per 10 000 population with range 1.6 to 142 per 10 000. Substantial efforts have been made in some countries to increase the availability of SHPs as shown by a positive average exponential growth rate (AEGR) in SHPs in 51% of Countdown countries for which there are data. Many of these countries will require large investments to achieve levels of workforce availability commensurate with UHC and the health-related sustainable development goals (SDGs). The availability, quality and comparability of global health workforce metrics remain limited. Most published workforce studies are descriptive, but more sophisticated needs-based workforce planning methods are being developed. Conclusions: There is a need for high-quality, comprehensive, interoperable sources of HRH data to support all policies towards UHC and the health-related SDGs. The recent WHO-led initiative of supporting countries in the development of National Health Workforce Accounts is a very promising move towards purposive health workforce metrics post-2015. Such data will allow more countries to apply the latest methods for health workforce planning

Solving the Discretised Boltzmann Transport Equations using Neural Networks: Applications in Neutron Transport

In this paper we solve the Boltzmann transport equation using AI libraries. The reason why this is attractive is because it enables one to use the highly optimised software within AI libraries, enabling one to run on different computer architectures and enables one to tap into the vast quantity of community based software that has been developed for AI and ML applications e.g. mixed arithmetic precision or model parallelism. Here we take the first steps towards developing this approach for the Boltzmann transport equation and develop the necessary methods in order to do that effectively. This includes: 1) A space-angle multigrid solution method that can extract the level of parallelism necessary to run efficiently on GPUs or new AI computers. 2) A new Convolutional Finite Element Method (ConvFEM) that greatly simplifies the implementation of high order finite elements (quadratic to quintic, say). 3) A new non-linear Petrov-Galerkin method that introduces dissipation anisotropically

Outcomes Following Anterior Cruciate Ligament Reconstruction with Patellar Tendon vs Hamstring Autografts: A Systematic Review of Randomized Controlled Trials with a Mean Follow-up of 15 Years

BACKGROUND: The two most common surgical treatment modalities for anterior cruciate ligament reconstruction (ACL), patellar tendon (PT) and hamstring tendon (HS) autografts, have been shown to have outcomes that are both similar and favorable; however, many of these are short or intermediate-term. The objective of this systematic review is to evaluate randomized controlled trials (RCTs) with a minimum 10-year follow-up data to compare the long-term outcomes of ACL reconstructions performed using PT and HS autografts. METHODS: This systematic review followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. A search of three databases (PubMed, Cochrane and EMBASE) was performed to identify RCTs with a minimum of 10-year follow-up that compared clinical and/or functional outcomes between PT and HS autografts. RESULTS: Four RCTs with a total of 299 patients were included in the study. The mean follow-up ranged from 10.2 to 17 years (mean, 14.79 years). No significant differences in knee laxity or clinical outcome scores were demonstrated in any of the studies. One study found that PT autografts were significantly more likely to have osteoarthritis identified by radiographic findings. Two studies found that patients with PT autografts reported increase kneeling pain, while none of the four studies reported a difference in anterior knee pain. There were no significant differences in graft failure rates. CONCLUSION: This review demonstrates no long-term difference in clinical or functional outcomes between PT and HS autografts. However, radiographic and subjective outcomes indicate that patients with PT autografts may experience greater kneeling pain and osteoarthritis. Therefore, orthopedic surgeons should consider patient-centric factors when discussing graft options with patients

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related)

Symptomatic hemorrhage after alteplase therapy not due to silent ischemia

BACKGROUND: Stroke thrombolysis-related intracerebral hemorrhage may occur remotely from the anatomical site of ischemia. One postulated mechanism for this is simultaneous multiple embolization with hemorrhage into a "silent" area of ischemia. RESULTS: A patient suffered a disabling stroke affecting the right cerebral hemisphere. He was treated with intravenous alteplase and underwent extensive early imaging with multimodal MRI. Several hours after treatment he developed a brainstem hemorrhage despite having no evidence of ischemia on DWI MRI in the brainstem. CONCLUSION: Not all occurrences of remote ICH after stroke thrombolysis are secondary to multiple emboli with silent ischemia