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Purpose: Resonance frequency analysis (RFA) offers the opportunity to monitor the osseointegration of an implant in a simple, noninvasive way. A better comprehension of the relationship between RFA and parameters related to bone quality would therefore help clinicians improve diagnoses. In this study, a bone analog made from polyurethane foam was used to isolate the influences of bone density and cortical thickness in RFA. Materials and Methods: Straumann standard implants were inserted in polyurethane foam blocks, and primary implant stability was measured with RFA. The blocks were composed of two superimposed layers with different densities. The top layer was dense to mimic cortical bone, whereas the bottom layer had a lower density to represent trabecular bone. Different densities for both layers and different thicknesses for the simulated cortical layer were tested, resulting in eight different block combinations. RFA was compared with two other mechanical evaluations of primary stability: removal torque and axial loading response. Results: The primary stability measured with RFA did not correlate with the two other methods, but there was a significant correlation between removal torque and the axial loading response (P < .005). Statistical analysis revealed that each method was sensitive to different aspects of bone quality. RFA was the only method able to detect changes in both bone density and cortical thickness. However, changes in trabecular bone density were easier to distinguish with removal torque and axial loading than with RFA. Conclusions: This study shows that RFA, removal torque, and axial loading are sensitive to different aspects of the bone-implant interface. This explains the absence of correlation among the methods and proves that no standard procedure exists for the evaluation of primary stability. [ABSTRACT FROM AUTHOR]

Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal recessive disorders characterized by the variable presentation and considerable locus heterogeneity with more than 90 genes described as single-gene causes. In this case report, we demonstrate the utility of whole-genome sequencing (WGS) for the molecular diagnosis of NPHP by identifying two putative disease-causing intronic mutations in the NPHP3 gene, including one deep intronic variant. We further show that both intronic variants, by affecting splicing, result in a truncated nephrocystin-3 protein. This study provides a framework for applying WGS as a first-line diagnostic tool for highly heterogeneous disease such as NPHP and further suggests that deep intronic variations are an important underestimated cause of monogenic disorders., Competing Interests: Competing interestsThe authors declare no competing interests., (© The Author(s) 2020.)

Background: HEALWA is an online library of evidence-based health information resources that are available to Washington state health practitioners. To increase awareness and use of HEALWA among health practitioners in rural areas, the National Network of Libraries of Medicine Pacific Northwest Region and Washington State University Spokane co-funded an outreach librarian position to provide instruction on using HEALWA., Case Presentation: After attempts at frequent in-person workshops failed due to lack of attendance, a one-hour-long webinar targeted at rural nurses was developed to be delivered once a month. These webinars introduced participating health professionals to HEALWA, including how to set up their access and how to navigate the resource. To accommodate the busy schedules and different learning styles of the target audience, the workshops occurred both as monthly webinars and in-person, when available, in addition to an online self-guided tutorial. Continuing education credit was obtained through the Washington State Nurses Association, and a partnership with the Washington State Nursing Commission improved promotion of the webinars. Evaluations for both the webinars and workshops have been largely positive., Conclusions: The webinar series, coupled with in-person workshops and an online tutorial, reached nurses in rural areas of Washington state to increase awareness of HEALWA. To further facilitate access to HEALWA instruction, a recorded version of the live webinar is in development.

Background: Care providers and surgeons prepare for cardiac surgery using case conferences to review, discuss, and run through the surgical procedure. Surgeons visualize a patient's anatomy to decide the right surgical approach using magnetic resonance imaging and echocardiograms in a presurgical case planning session. Previous studies have shown that surgical errors can be reduced through the effective use of immersive virtual reality (VR) to visualize patient anatomy. However, inconsistent user interfaces, delegation of view control, and insufficient depth information cause user disorientation and interaction difficulties in using VR apps for case planning., Objective: The objective of the study was to evaluate and compare the usability of 2 commercially available VR apps-Bosc (Pyrus Medical systems) and Medical Holodeck (Nooon Web & IT GmbH)-using the Vive VR headset (HTC Corporation) to evaluate ease of use, physician attitudes toward VR technology, and viability for presurgical case planning. The role of medical libraries in advancing case planning is also explored., Methods: After screening a convenience sample of surgeons, fellows, and residents, ethnographic interviews were conducted to understand physician attitudes and experience with VR. Gaps in current case planning methods were also examined. We ran a usability study, employing a concurrent think-aloud protocol. To evaluate user satisfaction, we used the system usability scale (SUS) and the National Aeronautics and Space Administration-Task Load Index (NASA-TLX). A poststudy questionnaire was used to evaluate the VR experience and explore the role of medical libraries in advancing presurgical case planning. Semistructured interview data were analyzed using content analysis with feedback categorization., Results: Participants were residents, fellows, and surgeons from the University of Washington with a mean age of 41.5 (SD 11.67) years. A total of 8 surgeons participated in the usability study, 3 of whom had prior exposure to VR. Users found Medical Holodeck easier to use than Bosc. Mean adjusted NASA-TLX score for Medical Holodeck was 62.71 (SD 18.25) versus Bosc's 40.87 (SD 13.90). Neither app passed the mean SUS score of 68 for an app to be considered usable, though Medical Holodeck (66.25 [SD 12.87]) scored a higher mean SUS than Bosc (37.19 [SD 22.41]). One user rated the Bosc usable, whereas 3 users rated Medical Holodeck usable., Conclusions: Interviews highlighted the importance of precise anatomical conceptualization in presurgical case planning and teaching, identifying it as the top reason for modifying a surgical procedure. The importance of standardized user interaction features such as labeling is justified. The study also sheds light on the new roles medical librarians can play in curating VR content and promoting interdisciplinary collaboration., (©Sandeep Napa, Michael Moore, Tania Bardyn. Originally published in JMIR Human Factors (http://humanfactors.jmir.org), 16.01.2019.)

After more than 50 years of treating Parkinson's disease with l-DOPA, there are still no guidelines on setting the optimal dose for a given patient. The dopamine transporter type 1, now known as solute carrier family 6 (neurotransmitter transporter), member 3 (SLC6A3) is the most powerful determinant of dopamine neurotransmission and might therefore influence the treatment response. We recently demonstrated that methylphenidate (a dopamine transporter inhibitor) is effective in patients with Parkinson's disease with motor and gait disorders. The objective of the present study was to determine whether genetic variants of the dopamine transporter type 1-encoding gene (SLC6A3) are associated with differences in the response to treatment of motor symptoms and gait disorders with l-DOPA and methylphenidate (with respect to the demographic, the disease and the treatment parameters and the other genes involved in the dopaminergic neurotransmission). This analysis was part of a multicentre, parallel-group, double-blind, placebo-controlled, randomized clinical trial of methylphenidate in Parkinson's disease (Protocol ID:2008-005801-20; ClinicalTrials.gov:NCT00914095). We scored the motor Unified Parkinson's Disease Rating Scale and the Stand-Walk-Sit Test before and after a standardized acute l-DOPA challenge before randomization and then after 3 months of methylphenidate treatment. Patients were screened for variants of genes involved in dopamine metabolism: rs28363170 and rs3836790 polymorphisms in the SLC6A3 gene, rs921451 and rs3837091 in the DDC gene (encoding the aromatic L-amino acid decarboxylase involved in the synthesis of dopamine from l-DOPA), rs1799836 in the MAOB gene (coding for monoamine oxidase B) and rs4680 in the COMT gene (coding for catechol-O-methyltransferase). Investigators and patients were blinded to the genotyping data throughout the study. Eighty-one subjects were genotyped and 61 were analysed for their acute motor response to l-DOPA. The SLC6A3 variants were significantly associated with greater efficacy of l-DOPA for motor symptoms. The SLC6A3 variants were also associated with greater efficacy of methylphenidate for motor symptoms and gait disorders in the ON l-DOPA condition. The difference between motor Unified Parkinson's Disease Rating Scale scores for patients with different SLC6A3 genotypes was statistically significant in a multivariate analysis that took account of other disease-related, treatment-related and pharmacogenetic parameters. Our preliminary results suggest that variants of SLC6A3 are genetic modifiers of the treatment response to l-DOPA and methylphenidate in Parkinson's disease. Further studies are required to assess the possible value of these genotypes for (i) guiding l-DOPA dose adaptations over the long term; and (ii) establishing the risk/benefit balance associated with methylphenidate treatment for gait disorders., (© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed, following a spatio-temporal colinearity that involves at least three regions, centrometric and telomeric to this cluster. Here, we describe a father and a daughter presenting a 3-4 hand bilateral syndactyly associated with a nystagmus. Array-comparative genomic hybridisation showed a 3.8 Mb duplication at 2q31.1-q31.2, comprising 27 genes including the entire HOXD cluster. We performed expression studies in lymphoblasts by reverse transcription-PCR and observed an HOXD13 and HOXD10 overexpression, whereas the HOXD12 expression was decreased. HOXD13 and HOXD10 overexpression, associated with a misregulation of at least HOXD12, may therefore induce the syndactyly. Deletions of the HOXD cluster and its regulatory sequences induce hand malformations and, particularly, finger anomalies. Recently, smaller duplications of the same region have been reported in association with a mesomelic dysplasia, type Kantaputra. We discuss the variable phenotypes associated with such 2q duplications.

An implantable transducer for monitoring the flow of Cerebrospinal fluid (CSF) for the treatment of hydrocephalus has been developed which is based on measuring the heat dissipation of a local thermal source. The transducer uses passive telemetry at 13.56 MHz for power supply and read out of the measured flow rate. The in vitro performance of the transducer has been characterized using artificial Cerebrospinal Fluid (CSF) with increased protein concentration and artificial CSF with 10% fresh blood. After fresh blood was added to the artificial CSF a reduction of flow rate has been observed in case that the sensitive surface of the flow sensor is close to the sedimented erythrocytes. An increase of flow rate has been observed in case that the sensitive surface is in contact with the remaining plasma/artificial CSF mix above the sediment which can be explained by an asymmetric flow profile caused by the sedimentation of erythrocytes having increased viscosity compared to artificial CSF. After removal of blood from artificial CSF, no drift could be observed in the transducer measurement which could be associated to a deposition of proteins at the sensitive surface walls of the packaged flow transducer. The flow sensor specification requirement of +-10% for a flow range between 2 ml/h and 40 ml/h. could be confirmed at test conditions of 37 degrees C.

Objectives: Despite its importance, implant removal torque can be assessed at present only after implantation. This paper presents a new technique to help clinicians preoperatively evaluate implant stability., Study Design: Planning software has been combined with an in-house finite element solver. Once the clinician has chosen the implant position on the planner, a finite element analysis automatically calculates the primary stability. The process was designed to be as simple and fast as possible for clinical use. This paper describes application of the method to the prediction of removal torque. A preliminary validation has been performed in both polyurethane foam and sheep bone., Results: The predicted torque is quantitatively equivalent to experimental values with correlation coefficients of >0.7 in both materials., Conclusions: This preliminary study is a first step toward the introduction of finite element models in computer-assisted surgery. The fact that the process is fast and automatic makes it suitable for a clinical use., (Copyright 2010 Mosby, Inc. All rights reserved.)

We propose a new and clinically oriented approach to perform atlas-based segmentation of brain tumor images. A mesh-free method is used to model tumor-induced soft tissue deformations in a healthy brain atlas image with subsequent registration of the modified atlas to a pathologic patient image. The atlas is seeded with a tumor position prior and tumor growth simulating the tumor mass effect is performed with the aim of improving the registration accuracy in case of patients with space-occupying lesions. We perform tests on 2D axial slices of five different patient data sets and show that the approach gives good results for the segmentation of white matter, grey matter, cerebrospinal fluid and the tumor.

Concerns have been raised that the use of calcium phosphate (CaP) cements for the augmentation of fractured, osteoporotic bones may aggravate cardiovascular deterioration in the event of pulmonary cement embolism by stimulating coagulation. The aim of the present study was therefore to investigate the cardiovascular changes after pulmonary embolism of CaP cement using an animal model. In 14 sheep, 2.0 mL CaP or polymethylmethacrylate cement were injected intravenously. Cardiovascular parameters and antithrombin levels were monitored until 60 min postinjection. Postmortem, lungs were subjected to CT scanning, and 3D reconstruction of the cement was performed. Intravenous injection of CaP cement resulted in a more severe increase in pulmonary arterial pressure and decrease in arterial blood pressure. Disintegration of the CaP cement seemed to be the reason for the more severe reaction. There was no evidence of thromboembolism. Disintegration of CaP cement in circulating blood does not only compromise the mechanical properties, but also represents a risk of cardiovascular complications. Reliable cohesion of CaP cements in an aqueous environment is essential for clinical applications such as osteoporotic bone augmentation.

Recent advances in tissue-engineered cartilage open the door to new clinical treatments of joint lesions. Common to all therapies with in-vitro engineered autografts is the need for optimal fit of the construct, to allow screwless implantation and optimal integration into the live joint. Computer Assisted Surgery techniques are prime candidates to ensure the required accuracy while at the same time simplifying the procedure. A pilot study has been conducted aiming at assembling a new set of methods to support ankle joint arthroplasty using bio-engineered autografts. Computer assistance allows planning of the implant shape on a CT image, manufacturing the construct according to the plan and interoperatively navigating the surgical tools for implantation. A rotational symmetric model of the joint surface was used to avoid segmentation of the CT image; a new software was developed to determine the joint axis and make the implant shape parameterisable. A complete cycle of treatment from planning to operation was conducted on a human cadaveric foot, thus proving the feasibility of computer-assisted arthroplasty using bio-engineered autografts.