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sso Leveraging Lessons Learned from India’s Unified Payments Interface for Digital Transformation in Asia and the Pacific By www.adb.org Published On :: 2024-04-30 This brief shows how India sparked a digital payments boom and boosted financial inclusion through the introduction of its Unified Payments Interface (UPI) and outlines ways countries in the region can ramp up their own digital transformation. Full Article
sso Lung Association Urges Back-to-School Asthma Checklist By www.medicinenet.com Published On :: Mon, 29 Aug 2022 00:00:00 PDT Title: Lung Association Urges Back-to-School Asthma ChecklistCategory: Health NewsCreated: 8/24/2008 2:00:00 AMLast Editorial Review: 8/25/2008 12:00:00 AM Full Article
sso E-Cigarettes Should Be Regulated Like Tobacco: American Heart Association By www.medicinenet.com Published On :: Mon, 29 Aug 2022 00:00:00 PDT Title: E-Cigarettes Should Be Regulated Like Tobacco: American Heart AssociationCategory: Health NewsCreated: 8/25/2014 9:35:00 AMLast Editorial Review: 8/25/2014 12:00:00 AM Full Article
sso New Missouri Law Dictates What Can be Called Meat By www.medicinenet.com Published On :: Mon, 29 Aug 2022 00:00:00 PDT Title: New Missouri Law Dictates What Can be Called MeatCategory: Health NewsCreated: 8/30/2018 12:00:00 AMLast Editorial Review: 8/31/2018 12:00:00 AM Full Article
sso Gardening Can Blossom Into Better Mental Health By www.medicinenet.com Published On :: Mon, 11 Jul 2022 00:00:00 PDT Title: Gardening Can Blossom Into Better Mental HealthCategory: Health NewsCreated: 7/11/2022 12:00:00 AMLast Editorial Review: 7/11/2022 12:00:00 AM Full Article
sso Impaired lung function and associated risk factors in children born prematurely: a systematic review and meta-analysis By err.ersjournals.com Published On :: 2024-10-09T00:15:15-07:00 Background Immature lung development and respiratory morbidity place preterm-born children at high risk of long-term pulmonary sequelae. This systematic review and meta-analysis aims to quantify lung function in preterm-born children and identify risk factors for a compromised lung function. Methods We searched MEDLINE, Embase, Cochrane Library, Web of Science and Scopus for relevant studies published on preterm cohorts born since 1990. Studies comparing forced expiratory volume in 1 s (FEV1) in preterm-born children aged ≥5 years to term-born controls or normative data were included. Study quality was assessed using the Newcastle–Ottawa Scale for cohort studies. Standardised mean differences in FEV1 and secondary spirometry outcomes per study were pooled using meta-analysis. The impact of different demographic and neonatal variables on studies’ FEV1 effect sizes was investigated by meta-regression analyses. Certainty of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations framework. Results We identified 42 studies with unique cohorts including 4743 preterm children and 9843 controls. Median gestational age in the studies was 28.0 weeks and age at assessment ranged from 6.7 to 16.7 years. Preterm children had lower FEV1 than controls (–0.58 sd, 95% CI –0.69– –0.47 sd, p<0.001) resulting in a relative risk of 2.9 (95% CI 2.4–3.4) for abnormal outcome, with high certainty of evidence. FEV1 was significantly associated with gestational age, birthweight, bronchopulmonary dysplasia and invasive mechanical ventilation in univariate meta-regression analyses (R2=36–96%). Conclusion This systematic review shows robust evidence of impaired lung function in preterm-born children with a high certainty of evidence. Full Article
sso Noninvasive diagnostic modalities and prediction models for detecting pulmonary hypertension associated with interstitial lung disease: a narrative review By err.ersjournals.com Published On :: 2024-10-09T00:15:15-07:00 Pulmonary hypertension (PH) is highly prevalent in patients with interstitial lung disease (ILD) and is associated with increased morbidity and mortality. Widely available noninvasive screening tools are warranted to identify patients at risk for PH, especially severe PH, that could be managed at expert centres. This review summarises current evidence on noninvasive diagnostic modalities and prediction models for the timely detection of PH in patients with ILD. It critically evaluates these approaches and discusses future perspectives in the field. A comprehensive literature search was carried out in PubMed and Scopus, identifying 39 articles that fulfilled inclusion criteria. There is currently no single noninvasive test capable of accurately detecting and diagnosing PH in ILD patients. Estimated right ventricular pressure (RVSP) on Doppler echocardiography remains the single most predictive factor of PH, with other indirect echocardiographic markers increasing its diagnostic accuracy. However, RVSP can be difficult to estimate in patients due to suboptimal views from extensive lung disease. The majority of existing composite scores, including variables obtained from chest computed tomography, pulmonary function tests and cardiopulmonary exercise tests, were derived from retrospective studies, whilst lacking validation in external cohorts. Only two available scores, one based on a stepwise echocardiographic approach and the other on functional parameters, predicted the presence of PH with sufficient accuracy and used a validation cohort. Although several methodological limitations prohibit their generalisability, their use may help physicians to detect PH earlier. Further research on the potential of artificial intelligence may guide a more tailored approach, for timely PH diagnosis. Full Article
sso PWAS Hub for exploring gene-based associations of common complex diseases [RESOURCES] By genome.cshlp.org Published On :: 2024-10-29T06:46:08-07:00 PWAS (proteome-wide association study) is an innovative genetic association approach that complements widely used methods like GWAS (genome-wide association study). The PWAS approach involves consecutive phases. Initially, machine learning modeling and probabilistic considerations quantify the impact of genetic variants on protein-coding genes’ biochemical functions. Secondly, for each individual, aggregating the variants per gene determines a gene-damaging score. Finally, standard statistical tests are activated in the case-control setting to yield statistically significant genes per phenotype. The PWAS Hub offers a user-friendly interface for an in-depth exploration of gene–disease associations from the UK Biobank (UKB). Results from PWAS cover 99 common diseases and conditions, each with over 10,000 diagnosed individuals per phenotype. Users can explore genes associated with these diseases, with separate analyses conducted for males and females. For each phenotype, the analyses account for sex-based genetic effects, inheritance modes (dominant and recessive), and the pleiotropic nature of associated genes. The PWAS Hub showcases its usefulness for asthma by navigating through proteomic-genetic analyses. Inspecting PWAS asthma-listed genes (a total of 27) provide insights into the underlying cellular and molecular mechanisms. Comparison of PWAS-statistically significant genes for common diseases to the Open Targets benchmark shows partial but significant overlap in gene associations for most phenotypes. Graphical tools facilitate comparing genetic effects between PWAS and coding GWAS results, aiding in understanding the sex-specific genetic impact on common diseases. This adaptable platform is attractive to clinicians, researchers, and individuals interested in delving into gene–disease associations and sex-specific genetic effects. Full Article
sso AGAP duplicons associate with structural diversity at Chromosome 10q11.22 [RESEARCH] By genome.cshlp.org Published On :: 2024-10-29T06:46:07-07:00 The 10q11.22 chromosomal region is a duplication-rich interval of the human genome and one of the last to be fully assembled. It carries copy number–variable genes associated with intellectual disability, bipolar disorder, and obesity. In this study, we characterized the structural diversity at this locus by analyzing 64 haploid assemblies produced by the Human Pangenome Reference Consortium. We identified 11 alternative haplotypes that differ in the copy number and/or orientation of large genomic segments, ranging from hundreds of kilobase pairs (kbp) to over one megabase pair (Mbp). We uncovered a 2.4 Mbp size difference between the shortest and longest haplotypes. Breakpoint analysis revealed that genomic instability results from nonallelic homologous recombination between segmental duplication (SD) pairs with varying similarity (94.4%–99.6%). Nonetheless, these pairs generally recombine at positions where their identity is higher (>99.6%). Recurrent inversions occur with different breakpoints within the same inverted SD pair. Inversion polymorphisms shuffle the entire SD arrangement, creating new predispositions to copy-number variations. The SD architecture is associated with a catarrhine-specific subgroup of the AGAP gene family, which likely triggered the accumulation of SDs at this locus over the past 25 million years of human evolution. Our results reveal extensive structural diversity and genomic instability at the 10q11.22 locus, and expand the general understanding of the mutational mechanisms behind SD-mediated rearrangements. Full Article
sso Associations Between Patient/Caregiver Trust in Clinicians and Experiences of Healthcare-Based Discrimination By www.jabfm.org Published On :: 2024-10-25T09:26:14-07:00 Background: Higher trust in healthcare providers has been linked to better health outcomes and satisfaction. Lower trust has been associated with healthcare-based discrimination. Objective: Examine associations between experiences of healthcare discrimination and patients’ and caregivers of pediatric patients’ trust in providers, and identify factors associated with high trust, including prior experience of healthcare-based social screening. Methods: Secondary analysis of cross-sectional study using logistic regression modeling. Sample consisted of adult patients and caregivers of pediatric patients from 11 US primary care/emergency department sites. Results: Of 1,012 participants, low/medium trust was reported by 26% identifying as non-Hispanic Black, 23% Hispanic, 18% non-Hispanic multiple/other race, and 13% non-Hispanic White (P = .001). Experience of any healthcare-based discrimination was reported by 32% identifying as non-Hispanic Black, 23% Hispanic, 39% non-Hispanic multiple/other race, and 26% non-Hispanic White (P = .012). Participants reporting low/medium trust had a mean discrimination score of 1.65/7 versus 0.57/7 for participants reporting high trust (P < .001). In our adjusted model, higher discrimination scores were associated with lower trust in providers (aOR 0.74, 95%CI = 0.64, 0.85). A significant interaction indicated that prior healthcare-based social screening was associated with reduced impact of discrimination on trust: as discrimination score increased, odds of high trust were greater among participants who had been screened (aOR = 1.28, 95%CI = 1.03, 1.58). Conclusions: Patients and caregivers reporting more healthcare-based discrimination were less likely to report high provider trust. Interventions to strengthen trust need structural antiracist components. Increased rapport with patients may be a potential by-product of social screening. Further research is needed on screening and trust. Full Article
sso Rehabilitation Is Associated With Improvements in Post-COVID-19 Sequelae By rc.rcjournal.com Published On :: 2024-10-25T05:44:12-07:00 BACKGROUND:Post–COVID-19 syndrome has affected millions of people, with rehabilitation being at the center of non-pharmacologic care. However, numerous published studies show conflicting results due to, among other factors, considerable variation in subject characteristics. Currently, the effects of age, sex, time of implementation, and prior disease severity on the outcomes of a supervised rehabilitation program after COVID-19 remain unknown.METHODS:This was a non-randomized case-control study. Subjects with post–COVID-19 sequelae were enrolled. Among study participants, those who could attend an 8-week, supervised rehabilitation program composed the intervention group, whereas those who couldn’t the control group. Measurements were collected at baseline and 8 weeks thereafter.RESULTS:Study groups (N = 119) had similar baseline measurements. Participation in rehabilitation (n = 47) was associated with clinically important improvements in the 6-min walk test (6MWT) distance, adjusted (for potential confounders) odds ratio (AOR) 4.56 (95% CI 1.95–10.66); 1-min sit-to-stand test, AOR 4.64 (1.88-11.48); Short Physical Performance Battery, AOR 7.93 (2.82–22.26); health-related quality of life (HRQOL) 5-level EuroQol-5D (Visual Analog Scale), AOR 3.12 (1.37–7.08); Montreal Cognitive Assessment, AOR 6.25 (2.16–18.04); International Physical Activity Questionnaire, AOR 3.63 (1.53–8.59); Fatigue Severity Scale, AOR 4.07 (1.51–10.98); Chalder Fatigue Scale (bimodal score), AOR 3.33 (1.45–7.67); Modified Medical Research Council dyspnea scale (mMRC), AOR 4.43 (1.83–10.74); Post–COVID-19 Functional Scale (PCFS), AOR 3.46 (1.51–7.95); and COPD Assessment Test, AOR 7.40 (2.92–18.75). Time from disease onset was marginally associated only with 6MWT distance, AOR 0.99 (0.99–1.00). Prior hospitalization was associated with clinically important improvements in the mMRC dyspnea scale, AOR 3.50 (1.06–11.51); and PCFS, AOR 3.42 (1.16–10.06). Age, sex, and ICU admission were not associated with the results of any of the aforementioned tests/grading scales.CONCLUSIONS:In this non-randomized, case-control study, post–COVID-19 rehabilitation was associated with improvements in physical function, activity, HRQOL, respiratory symptoms, fatigue, and cognitive impairment. These associations were observed independently of timing of rehabilitation, age, sex, prior hospitalization, and ICU admission. Full Article
sso Association between a recalled positive airway pressure device and incident cancer: a population-based study By erj.ersjournals.com Published On :: 2024-11-07T00:35:55-08:00 Background The real-world consequences of a Philips Respironics recall for positive airway pressure (PAP) devices distributed between 2009 and 2021 are unknown. Methods We conducted a retrospective population-based study using health administrative databases (Ontario, Canada) on all new adult PAP users identified through the provincial funding system, free of cancer at baseline, who initiated (claimed) PAP treatment between 2012 and 2018. Everyone was followed from the PAP claim date to the earliest of incident cancer diagnosis, death or end of follow-up (March 2022). We used inverse probability of treatment weighting to balance baseline characteristics between individuals on recalled devices and those on devices from other manufacturers. Weighted hazard ratios of incident cancer were compared between groups. Results Of 231 692 individuals identified, 58 204 (25.1%) claimed recalled devices and 173 488 (74.9%) claimed devices from other manufacturers. A meaningful baseline difference between groups (standardised difference ≥0.10) was noted only by location-relevant covariates; other variables were mostly equally distributed (standardised differences ≤0.06). Over a median (interquartile range) follow-up of 6.3 (4.9–8.0) years, 11 166 (4.8%) developed cancer: unadjusted rates per 10 000 person-years of 78.8 (95% CI 76.0–81.7) in the recall group versus 74.0 (95% CI 72.4–75.6) in others (p=0.0034). Propensity score weighting achieved excellent balance in baseline characteristics between groups (standardised differences ≤0.07). On a weighted sample, there was no statistical difference in the hazard of incident cancer between groups: cause-specific hazard ratio (recalled versus others) 0.97 (95% CI 0.89–1.06). Conclusion In our real-world population study, compared to other manufacturers and adjusting for confounders, recalled Philips Respironics PAP devices do not appear to be independently associated with developing cancer. Full Article
sso Genome-wide association study of susceptibility to Pseudomonas aeruginosa infection in cystic fibrosis By erj.ersjournals.com Published On :: 2024-11-07T00:35:55-08:00 Background Pseudomonas aeruginosa is a common pathogen that contributes to progressive lung disease in cystic fibrosis (CF). Genetic factors other than CF-causing CFTR (CF transmembrane conductance regulator) variations contribute ~85% of the variation in chronic P. aeruginosa infection age in CF according to twin studies, but the susceptibility loci remain unknown. Our objective is to advance understanding of the genetic basis of host susceptibility to P. aeruginosa infection. Materials and methods We conducted a genome-wide association study of chronic P. aeruginosa infection age in 1037 Canadians with CF. We subsequently assessed the genetic correlation between chronic P. aeruginosa infection age and lung function through polygenic risk score (PRS) analysis and inferred their causal relationship through bidirectional Mendelian randomisation analysis. Results Two novel genome-wide significant loci with lead single nucleotide polymorphisms (SNPs) rs62369766 (chr5p12; p=1.98x10–8) and rs927553 (chr13q12.12; p=1.91x10–8) were associated with chronic P. aeruginosa infection age. The rs62369766 locus was validated using an independent French cohort (n=501). Furthermore, the PRS constructed from CF lung function-associated SNPs was significantly associated with chronic P. aeruginosa infection age (p=0.002). Finally, our analysis presented evidence for a causal effect of lung function on chronic P. aeruginosa infection age (β=0.782 years, p=4.24x10–4). In the reverse direction, we observed a moderate effect (β=0.002, p=0.012). Conclusions We identified two novel loci that are associated with chronic P. aeruginosa infection age in individuals with CF. Additionally, we provided evidence of common genetic contributors and a potential causal relationship between P. aeruginosa infection susceptibility and lung function in CF. Therapeutics targeting these genetic factors may delay the onset of chronic infections, which account for significant remaining morbidity in CF. Full Article
sso Evaluating Drug-Drug Interaction Risk Associated with Peptide Analogs Using advanced In Vitro Systems [Special Section on New and Emerging Areas and Technologies in Drug Metabolism and Disposition, Part II] By dmd.aspetjournals.org Published On :: 2024-10-16T09:02:03-07:00 Drug–drug interaction (DDI) assessment of therapeutic peptides is an evolving area. The industry generally follows DDI guidelines for small molecules, but the translation of data generated with commonly used in vitro systems to in vivo is sparse. In the current study, we investigated the ability of advanced human hepatocyte in vitro systems, namely HepatoPac, spheroids, and Liver-on-a-chip, to assess potential changes in regulation of CYP1A2, CYP2B6, CYP3A4, SLCO1B1, and ABCC2 in the presence of selected therapeutic peptides, proteins, and small molecules. The peptide NN1177, a glucagon and GLP-1 receptor co-agonist, did not suppress mRNA expression or activity of CYP1A2, CYP2B6, and CYP3A4 in HepatoPac, spheroids, or Liver-on-a-chip; these findings were in contrast to the data obtained in sandwich cultured hepatocytes. No effect of NN1177 on SLCO1B1 and ABCC2 mRNA was observed in any of the complex systems. The induction magnitude differed across the systems (e.g., rifampicin induction of CYP3A4 mRNA ranged from 2.8-fold in spheroids to 81.2-fold in Liver-on-a-chip). Small molecules, obeticholic acid and abemaciclib, showed varying responses in HepatoPac, spheroids, and Liver-on-a-chip, indicating a need for EC50 determinations to fully assess translatability data. HepatoPac, the most extensively investigated in this study (3 donors), showed high potential to investigate DDIs associated with CYP regulation by therapeutic peptides. Spheroids and Liver-on-a-chip were only assessed in one hepatocyte donor and further evaluations are required to confirm their potential. This study establishes an excellent foundation toward the establishment of more clinically-relevant in vitro tools for evaluation of potential DDIs with therapeutic peptides. SIGNIFICANT STATEMENT At present, there are no guidelines for drug–drug interaction (DDI) assessment of therapeutic peptides. Existing in vitro methods recommended for assessing small molecule DDIs do not appear to translate well for peptide drugs, complicating drug development for these moieties. Here, we establish evidence that complex cellular systems have potential to be used as more clinically-relevant tools for the in vitro DDI evaluation of therapeutic peptides. Full Article
sso Early Lessons From Working With Local Partners to Expand Private-Sector Health Care Networks in Burundi and Mali By ghspjournal.org Published On :: 2024-10-29T12:28:39-07:00 ABSTRACTThe private health care sector is an important source of service delivery in low- and middle-income countries (LMICs). Yet, the private sector remains fragmented, making it difficult for health system actors to support and ensure the availability of quality health care services. In global health programs, social franchising is one model used to engage and organize the private health care sector. Two social franchise networks, ProFam in West Africa and Tunza in East and Central Africa, provide health care through branded networks of facilities. However, these social franchise networks include a limited number of private health care facilities, and in fragile contexts, like Burundi and Mali, they have faced challenges in integrating with national health systems. The MOMENTUM Private Healthcare Delivery (MPHD) project in Burundi and Mali sought to expand the number of health facilities it engaged beyond the existing ProFam and Tunza networks. The expansion aimed to help improve service quality in more private facilities while advancing localization and reducing fragmentation for improved stewardship by health system actors. MPHD achieved this expansion by removing barriers for private health facilities to join inclusive, nonbranded networks and engaging local partners to build and maintain these networks. We share lessons learned regarding the growing role of local organizations as actors within mixed health systems and provide insights on strengthening stewardship of the increasingly heterogeneous private health care delivery sector in LMICs, particularly in fragile settings. Full Article
sso Association of Free-to-Total PSA Ratio and 18F-DCFPyL Prostate-Specific Membrane Antigen PET/CT Findings in Patients with Biochemical Recurrence After Radical Prostatectomy: A Prospective Single-Center Study By jnm.snmjournals.org Published On :: 2024-11-01T04:25:31-07:00 In Canada and across the globe, access to PSMA PET/CT is limited and expensive. For patients with biochemical recurrence (BCR) after treatment for prostate cancer, novel strategies are needed to better stratify patients who may or may not benefit from a PSMA PET scan. The role of the free-to-total prostate-specific antigen (PSA) ratio (FPSAR) in posttreatment prostate cancer, specifically in the PSMA PET/CT era, remains unknown. Our aim in this study was to determine the association of FPSAR in patients referred for 18F-DCFPyL PSMA PET/CT in the BCR setting and assess the correlation between FPSAR and 18F-DCFPyL PSMA PET/CT positivity (local recurrence or distant metastases). Methods: This prospective study included 137 patients who were referred for 18F-DCFPyL PSMA PET/CT and had BCR with a total PSA of less than 1 ng/mL after radical prostatectomy (RP) (including adjuvant or salvage radiotherapy). Blood samples were collected on the day of 18F-DCFPyL PSMA PET/CT. FPSAR was categorized as less than 0.10 or as 0.10 or more. A positive 18F-DCFPyL PSMA PET/CT scan was defined by a PROMISE classification lesion score of 2 or 3, irrespective of the site of increased tracer uptake (e.g., prostate, pelvic nodes, bone, or viscera). Results: Overall, 137 blood samples of patients with BCR after RP were analyzed to calculate FPSAR. The median age at 18F-DCFPyL PSMA PET/CT was 68.6 y (interquartile range, 63.0–72.4 y), and the median PSA at 18F-DCFPyL PSMA PET/CT was 0.3 ng/mL (interquartile range, 0.3–0.6 ng/mL). Eighty-six patients (62.8%) had an FPSAR of less than 0.10, whereas 51 patients (37.2%) had an FPSAR of 0.10 or more. An FPSAR of 0.10 or more was identified as an independent predictor of a positive 18F-DCFPyL PSMA PET/CT scan, with an odds ratio of 6.99 (95% CI, 2.96–16.51; P < 0.001). Conclusion: An FPSAR of 0.10 or more after RP independently correlated with increased odds of a positive 18F-DCFPyL PSMA PET/CT scan among BCR post-RP patients. These findings may offer an inexpensive method by which to triage access to 18F-DCFPyL PSMA PET/CT in jurisdictions where availability is not replete. Full Article
sso Artificial Intelligence Efficacy as a Function of Trainee Interpreter Proficiency: Lessons from a Randomized Controlled Trial [RESEARCH] By www.ajnr.org Published On :: 2024-11-07T15:14:12-08:00 BACKGROUND AND PURPOSE: Recently, artificial intelligence tools have been deployed with increasing speed in educational and clinical settings. However, the use of artificial intelligence by trainees across different levels of experience has not been well-studied. This study investigates the impact of artificial intelligence assistance on the diagnostic accuracy for intracranial hemorrhage and large-vessel occlusion by medical students and resident trainees. MATERIALS AND METHODS: This prospective study was conducted between March 2023 and October 2023. Medical students and resident trainees were asked to identify intracranial hemorrhage and large-vessel occlusion in 100 noncontrast head CTs and 100 head CTAs, respectively. One group received diagnostic aid simulating artificial intelligence for intracranial hemorrhage only (n = 26); the other, for large-vessel occlusion only (n = 28). Primary outcomes included accuracy, sensitivity, and specificity for intracranial hemorrhage/large-vessel occlusion detection without and with aid. Study interpretation time was a secondary outcome. Individual responses were pooled and analyzed with the t test; differences in continuous variables were assessed with ANOVA. RESULTS: Forty-eight participants completed the study, generating 10,779 intracranial hemorrhage or large-vessel occlusion interpretations. With diagnostic aid, medical student accuracy improved 11.0 points (P < .001) and resident trainee accuracy showed no significant change. Intracranial hemorrhage interpretation time increased with diagnostic aid for both groups (P < .001), while large-vessel occlusion interpretation time decreased for medical students (P < .001). Despite worse performance in the detection of the smallest-versus-largest hemorrhages at baseline, medical students were not more likely to accept a true-positive artificial intelligence result for these more difficult tasks. Both groups were considerably less accurate when disagreeing with the artificial intelligence or when supplied with an incorrect artificial intelligence result. CONCLUSIONS: This study demonstrated greater improvement in diagnostic accuracy with artificial intelligence for medical students compared with resident trainees. However, medical students were less likely than resident trainees to overrule incorrect artificial intelligence interpretations and were less accurate, even with diagnostic aid, than the artificial intelligence was by itself. Full Article
sso ITPR1-associated spinocerebellar ataxia with craniofacial features--additional evidence for germline mosaicism [RESEARCH ARTICLE] By molecularcasestudies.cshlp.org Published On :: 2024-01-10T08:13:38-08:00 Inositol 1,4,5-triphosphate receptor type 1 (ITPR1) is an endoplasmic reticulum–bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinocerebellar ataxia (SCA) types 15/16 and 29 and have recently been implicated in a facial microsomia syndrome. In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C > T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and apparent intellectual disability, as well as craniofacial involvement—an uncommon finding in patients with SCA29. The variant was identified using clinical exome sequencing and validated with Sanger sequencing. It is presumed to be inherited via parental germline mosaicism. We present our findings to provide additional evidence for germline mosaic inheritance of SCA29, as well as to expand the clinical phenotype of the syndrome. Full Article
sso De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy [RESEARCH ARTICLE] By molecularcasestudies.cshlp.org Published On :: 2024-01-10T08:13:38-08:00 We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease–associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp). Full Article
sso Sony Discusses What Lessons Can be Learned from the Failure of Concord By www.vgchartz.com Published On :: Fri, 08 Nov 2024 18:08:03 GMT Sony president Hiroki Totoki in a Q&A session with investors was asked about the failure of Concord, which was shut down less than two weeks after it released. "Currently, we are still in the process of learning," said Totoki (via VideoGamesChronicle). "And basically, with regards to new IP, of course, you don’t know the result until you actually try it. "So for us, for our reflection, we probably need to have a lot of gates, including user testing or internal evaluation, and the timing of such gates. And then we need to bring them forward, and we should have done those gates much earlier than we did. "Also, we have a siloed organisation, so going beyond the boundaries of those organisations in terms of development, and also sales, I think that could have been much smoother. "And then going forward, in our own titles and in third-party titles, we do have many different windows. And we want to be able to select the right and optimal window so that we can deploy them on our own platform without cannibalization, so that we can maximize our performance in terms of title launches. That’s all I have." Sony senior vice president for finance and IR Sadahiko Hayakawa discussed the success of Helldivers 2 and the failure of Concord. "We launched two live-service games this year," he said. "Helldivers 2 was a huge hit, while Concord ended up being shut down. We gained a lot of experience and learned a lot from both. "We intend to share the lessons learned from our successes and failures across our studios, including in the areas of title development management as well as the process of continually adding expanded content and scaling the service after its release so as to strengthen our development management system. "We intend to build on an optimum title portfolio during the current mid-range plan period that combines single-player games – which are our strengths and which have a higher predictability of becoming hits due to our proven IP – with live-service games that pursue upside while taking on a certain amount of risk upon release." Concord released for the PlayStation 5 and PC on August 23, and it was shut down on September 6. A life-long and avid gamer, William D'Angelo was first introduced to VGChartz in 2007. After years of supporting the site, he was brought on in 2010 as a junior analyst, working his way up to lead analyst in 2012 and taking over the hardware estimates in 2017. He has expanded his involvement in the gaming community by producing content on his own YouTube channel and Twitch channel. You can contact the author on Twitter @TrunksWD.Full Article - https://www.vgchartz.com/article/463026/sony-discusses-what-lessons-can-be-learned-from-the-failure-of-concord/ Full Article Analysis Charts Industry
sso Hori’s spiritual successor to the Steam Controller is up for preorder on Amazon today By www.rockpapershotgun.com Published On :: Tue, 05 Nov 2024 15:14:17 +0000 Hori's latest addition to its controller lineup, the "Horipad Wireless for Steam," is now available for preorder on Amazon. After already releasing in Japan at the end of October, now the gamepad is coming to the US. Read more Full Article PC
sso Trump’s claim about predecessors, fallen troops disputed By www.pbs.org Published On :: Tue, 17 Oct 2017 12:53:14 +0000 File photo of President Donald Trump by Joshua Roberts/Reuters WASHINGTON — For U.S. presidents, meeting the families of military personnel killed in war is about as wrenching as the presidency gets. President Donald Trump’s suggestion Monday that his predecessors fell short in that duty brought a visceral reaction from those who witnessed those grieving encounters. “He’s a deranged animal,” Alyssa Mastromonaco, a former deputy chief of staff to President Barack Obama, tweeted about Trump. With an expletive, she called Trump’s statement in the Rose Garden a lie. Trump said in a news conference he had written letters to the families of four soldiers killed in an Oct. 4 ambush in Niger and planned to call them, crediting himself with taking extra steps in honoring the dead properly. “Most of them didn’t make calls,” he said of his predecessors. He said it’s possible that Obama “did sometimes” but “other presidents did not call.” The record is plain that presidents reached out to families of the dead and to the wounded, often with their presence as well as by letter and phone. The path to Walter Reed and other military hospitals, as well as to the Dover, Delaware, Air Force Base where the remains of fallen soldiers are often brought, is a familiar one to Obama, George W. Bush and others. Bush, even at the height of two wars, “wrote all the families of the fallen,” said Freddy Ford, spokesman for the ex-president. Ford said Bush also called or met “hundreds, if not thousands” of family members of the war dead. READ MORE: What Trump said about his drug czar pick, health care fixes Obama’s official photographer, Pete Souza, tweeted that he photographed Obama “meeting with hundreds of wounded soldiers, and family members of those killed in action.” Others recalled his frequent visits with Gold Star families, and travels to Walter Reed, Dover and other venues with families of the dead and with the wounded. Retired Gen. Martin E. Dempsey, the former chairman of the Joint Chiefs of Staff, confirmed these contacts, tweeting: “POTUS 43 & 44 and first ladies cared deeply, worked tirelessly for the serving, the fallen, and their families. Not politics. Sacred Trust.” Trump addressed the matter when asked why he had not spoken about the four soldiers killed in Niger. They died when militants thought to be affiliated with the Islamic State group ambushed them while they were patrolling in unarmored trucks with Nigerien troops. “I actually wrote letters individually to the soldiers we’re talking about, and they’re going to be going out either today or tomorrow,” he said, meaning he wrote to the families of the fallen soldiers. He did not explain why letters had not been sent yet, more than a week after the attack. “If you look at President Obama and other presidents, most of them didn’t make calls,” Trump said. Pressed on that statement later, he said of Obama: “I was told that he didn’t often, and a lot of presidents don’t. They write letters.” He went on: “President Obama, I think, probably did sometimes, and maybe sometimes he didn’t. I don’t know. That’s what I was told. … Some presidents didn’t do anything.” Press Secretary Sarah Huckabee Sanders said later that Trump “wasn’t criticizing predecessors, but stating a fact.” She argued that presidents didn’t always call families of those killed in battle: “Sometimes they call, sometimes they send a letter, other times they have the opportunity to meet family members in person.” She said anyone claiming a former president had called every family was “mistaken.” Bush’s commitment to writing to all military families of the dead and to reaching out by phone or meeting with many others came despite the enormity of the task. In the Iraq war alone, U.S. combat deaths were highest during his presidency, exceeding 800 each year from 2004 through 2007. The number fell to 313 in Bush’s last year in office as the insurgency faded. Bush once said he felt the appropriate way to show his respect was to meet family members in private. READ MORE: What the Bannon vs. McConnell fight means for Trump and the GOP Obama declared an end to combat operations in Iraq in August 2010 and the last U.S. troops were withdrawn in December 2011. As Obama wound down that war, he sent tens of thousands more troops into Afghanistan in 2009 and 2010, and the death count mounted. From a total of 155 Americans killed in Afghanistan in 2008, which was Bush’s last full year in office, the number jumped to 311 in 2009 and peaked the next year at 498. In all, more than 1,700 died in Afghanistan on Obama’s watch. Among other rituals honoring military families, the Obamas had a “Gold Star” Christmas tree in the White House decorated with hundreds of photos and notes from people who had lost loved ones in war. Gold Star families visited during the holidays, bringing ornaments. Trump visited Dover early in his presidency, going in February with his daughter Ivanka for the return of the remains of a U.S. Navy SEAL killed during a raid in Yemen, William “Ryan” Owens. Trump’s relations with Gold Star families have not always been smooth, dating from his belittlement of the parents of slain U.S. soldier Humayun Khan, who was Muslim. Trump was angered when the soldier’s father, Khizr Khan, was given a platform to criticize him at the Democratic National Convention. Owens’ grieving father said he didn’t want to talk with Trump at Dover. But the sailor’s widow, Carryn, attended Trump’s address to Congress and wept as he thanked her. ___ Associated Press writers Robert Burns and Jesse J. Holland contributed to this report. The post Trump’s claim about predecessors, fallen troops disputed appeared first on PBS NewsHour. Full Article Donald Trump Military Niger
sso PS5 Pro scalpers sell Sony's console at a loss – but one accessory is in demand By www.dailystar.co.uk Published On :: Fri, 8 Nov 2024 10:29:36 +0000 PlayStation 5 Pro is out, and with plenty of availability, scalpers are shifting the £700 console at a loss and turning their attention to a key accessory instead Full Article Gaming
sso Intel Core i9-12900K claimed to be the "World's Best Gaming Processor" By www.bit-tech.net Published On :: Thu, 28 Oct 2021 10:00:00 +0000 However, the comparative Win 11 AMD tests were on an unpatched (L3 cache, CPPC2) PC. Full Article
sso Bird flu virus that infected a person in Missouri had a rare mutation By www.newscientist.com Published On :: Wed, 18 Sep 2024 22:01:35 +0100 Genetic analysis of a bird flu virus detected in a person in Missouri who didn’t previously have contact with animals offers more details on the case, but experts say there isn’t substantial evidence to suggest human-to-human transmission is happening Full Article
sso Canada orders TikTok's Canadian business to be dissolved but won't block app By www.npr.org Published On :: Thu, 07 Nov 2024 01:26:26 -0500 Industry Minister François-Philippe Champagne said the decision to dissolve TikTok of its Canadian business is meant to address risks perceived to be related to TikTok's Chinese parent company. Full Article
sso RPS and pharmacy students' association call for rethink over overseas exam decision By www.pharmaceutical-journal.com Published On :: Tue, 9 Feb 2021 16:42 GMT The Royal Pharmaceutical Society and the British Pharmaceutical Students’ Association have called for all overseas candidates to sit the March 2021 registration assessment in their home countries. Full Article
sso Lessons From A Private Funding Round: Science, Relationships, And Experience By lifescivc.com Published On :: Tue, 02 Apr 2024 11:00:46 +0000 By Mike Cloonan, CEO of Sionna Therapeutics, as part of the From The Trenches feature of LifeSciVC An insightful piece on this blog following the JPM healthcare conference noted the “refreshing burst of enthusiasm” in the biotech sector. It’s true The post Lessons From A Private Funding Round: Science, Relationships, And Experience appeared first on LifeSciVC. Full Article Biotech financing From The Trenches Fundraising CFTR Sionna Therapeutics
sso Stars and Scars… Some Lessons Learned About Leadership By lifescivc.com Published On :: Thu, 02 May 2024 11:00:41 +0000 By Arthur O. Tzianabos, PhD, CEO of Lifordi Immunotherapeutics, as part of the From the Trenches feature of LifeSciVC As the biotech industry continues to pick up steam, I have been getting a number of phone calls from folks in The post Stars and Scars… Some Lessons Learned About Leadership appeared first on LifeSciVC. Full Article Corporate Culture From The Trenches Leadership
sso A Bendy RISC-V Processor By spectrum.ieee.org Published On :: Wed, 25 Sep 2024 15:00:03 +0000 For the first time, scientists have created a flexible programmable chip that is not made of silicon. The new ultralow-power 32-bit microprocessor from U.K.-based Pragmatic Semiconductor and its colleagues can operate while bent, and can run machine learning workloads. The microchip’s open-source RISC-V architecture suggests it might cost less than a dollar, putting it in a position to power wearable healthcare electronics, smart package labels, and other inexpensive items, its inventors add.For example, “we can develop an ECG patch that has flexible electrodes attached to the chest and a flexible microprocessor connected to flexible electrodes to classify arrhythmia conditions by processing the ECG data from a patient,” says Emre Ozer, senior director of processor development at Pragmatic, a flexible chip manufacturer in Cambridge, England. Detecting normal heart rhythms versus an arrhythmia “is a machine learning task that can run in software in the flexible microprocessor,” he says.Flexible electronics have the potential for any application requiring interactions with soft materials, such as devices worn on or implanted within the body. Those applications could include on-skin computers, soft robotics, and brain-machine interfaces. But, conventional electronics are made of rigid materials such as silicon.Open-source, Flexible, and Fast EnoughPragmatic sought to create a flexible microchip that cost significantly less to make than a silicon processor. The new device, named Flex-RV, is a 32-bit microprocessor based on the metal-oxide semiconductor indium gallium zinc oxide (IGZO).Attempts to create flexible devices from silicon require special packaging for the brittle microchips to protect them from the mechanical stresses of bending and stretching. In contrast, pliable thin-film transistors made from IGZO can be made directly at low temperatures onto flexible plastics, leading to lower costs.The new microchip is based on the RISC-V instruction set. (RISC stands for reduced instruction set computer.) First introduced in 2010, RISC-V aims to enable smaller, lower-power, better-performing processors by slimming down the core set of instructions they can execute.“Our end goal is to democratize computing by developing a license-free microprocessor,” Ozer says.RISC-V’s is both free and open-source, letting chip designer dodge the costly licensing fees associated with proprietary architectures such as x86 and Arm. In addition, proprietary architectures offer limited opportunities to customize them, as adding new instructions is generally restricted. In contrast, RISC-V encourages such changes. A bent Flex-RV microprocessor runs a program to print ‘Hello World’. Pragmatic Semiconductor“We chose the Serv designed by Olof Kindgren... as the open source 32-bit RISC-V CPU when we designed Flex-RV,” Ozer says. “Serv is the smallest RISC-V processor in the open-source community.”Other processors have been built using flexible semiconductors, such as Pragmatic’s 32-bit PlasticARM and an ultracheap microcontroller designed by engineers in Illinois. Unlike these earlier devices, Flex-RV is programmable and can run compiled programs written in high-level languages such as C. In addition, the open-source nature of RISC-V also let the researchers equip Flex-RV with a programmable machine learning hardware accelerator, enabling artificial intelligence applications.Each Flex-RV microprocessor has a 17.5 square millimeter core and roughly 12,600 logic gates. The research team found Flex-RV could run as fast as 60 kilohertz while consuming less than 6 milliwatts of power.All previous flexible non-silicon microprocessors were tested solely on the wafers they were made on. In contrast, Flex-RV was tested on flexible printed circuit boards, which let the researchers see how well it operated when flexed. The Pragmatic team found that Flex-RV could still execute programs correctly when bent to a curve with a radius of 3 millimeters. Performance varied between a 4.3 percent slowdown to a 2.3 percent speedup depending on the way it was bent. “Further research is needed to understand how bending conditions such as direction, orientation and angle impact performance at macro and micro scales,” Ozer says.Silicon microchips can run at gigahertz speeds, much faster than Flex-RV, but that shouldn’t be a problem, according to Ozer. “Many sensors—for example, temperature, pressure, odor, humidity, pH, and so on—in the flexible electronics world typically operate very slowly at hertz or kilohertz regimes,” he says. “These sensors are used in smart packaging, labels and wearable healthcare electronics, which are the emerging applications for which flexible microprocessors will be useful. Running the microprocessor at 60 kHz would be more than enough to meet the requirements of these applications.”Ozer and his team suggest each Flex-RV might cost less than a dollar. Although Ozer did not want to say how much less than a dollar it might cost, he says they are confident such low costs are possible “thanks to low-cost flexible chip fabrication technology by Pragmatic and a license-free RISC-V technology.”The scientists detailed their findings online 25 September in the journal Nature. Full Article Flexible electronics Machine learning Wearables Smart tags Risc-v
sso Extending the Patentable Life of 3D Printers: A Lesson From the Pharmaceutical Industry By www.lifescienceslawblog.com Published On :: Tue, 19 Jan 2016 17:34:48 +0000 Modern innovation typically occurs one step-improvement at a time. Some clients initially question whether their new application of an existing technology is patentable. Usually, the answer is ‘yes.’ Under U.S. law (and most other jurisdictions), an innovation to an existing technology is patentable so long as at least one claim limitation is novel and non-obvious....… Continue Reading Full Article Biotechnology FDA Intellectual Property Legislation
sso Why Biotech Companies Fail: Lessons for CEOs By worldofdtcmarketing.com Published On :: Tue, 12 Nov 2024 10:56:35 +0000 We’re seeing an alarming increase in the number of failed biotech companies. While the biotechnology industry holds enormous […] The post Why Biotech Companies Fail: Lessons for CEOs appeared first on World of DTC Marketing. Full Article in the news Working in the industry Failing Biotechs
sso The Cuban Missile Crisis at 60: Six Timeless Lessons for Arms Control By www.belfercenter.org Published On :: Sep 28, 2022 Sep 28, 2022 As the best documented major crisis in history, in substantial part because Kennedy secretly taped the deliberations in which he and his closest advisers were weighing choices they knew could lead to a catastrophic war, the Cuban missile crisis has become the canonical case study in nuclear statecraft. Over the decades since, key lessons from the crisis have been adapted and applied by the successors of Kennedy and Khrushchev to inform fateful choices. Full Article
sso Lessons from 'The New Harvest' on How Academics Can Turn Their Work into Policy By www.belfercenter.org Published On :: Dec 8, 2016 Dec 8, 2016 "The goal of the book was to invest in thinking. It doesn't have a list of recommendations but generates options for action that are backed by evidence. We chose to forgo credit by adopting this approach, but it’s been very encouraging to see some key impacts that acknowledge the book." Full Article
sso Remembering Our Colleague Professor Calestous Juma By www.belfercenter.org Published On :: Dec 18, 2017 Dec 18, 2017 Our colleague Calestous Juma—who passed away on December 15 at age 64 after a long illness—was a pioneering, prolific, and influential scholar/practitioner in science and technology policy for sustainable well-being. He joined Harvard Kennedy School (HKS) in 1999 as Director of the Science, Technology, and Innovation Project (a joint venture of the Belfer Center for Science and International Affairs and the Center for International Development) and became Professor of the Practice of International Development in 2002, a position in which he maintained his exceptional productivity and engagement with policy, despite illness, up to the time of his death. Full Article
sso After Backlash, Harvard Professor Holds Tense Conversation on Israeli-Palestinian Conflict By www.belfercenter.org Published On :: Mar 7, 2024 Mar 7, 2024 Tarek Masoud, who questioned Iriqat’s views of Oct. 7 and how a two-state solution could be achieved during the event, said in an interview later on Thursday that he was “reasonably confident and hopeful” the discussion was an opportunity for learning, and added he appreciated that Iriqat “did not deny the atrocities of Oct. 7.” Understanding the Palestinian perspective is critical for moving toward peace and a two-state solution, Masoud said. Masoud and Iriqat agreed to discuss her controversial social media posts during the dialogue. Iriqat said that she did not intend to justify the violence on Oct. 7, which included kidnappings of children and elderly, beheadings, and massacres of civilians, but meant to place the attack in the context of a decades-long conflict. She was intensely critical of Israel throughout the conversation, saying the “settler-colonial project started 76 years ago.” Full Article
sso Negotiating with North Korea: Key Lessons Learned from Negotiators' Genesis Period By www.belfercenter.org Published On :: Apr 3, 2024 Apr 3, 2024 Only a small handful of people in the world have sat at the negotiating table with the North Koreans and extensively interacted with them. Yet, this knowledge is fragmented and has not been collected or analyzed in a systematic manner. This report captures the findings from in-depth, one-on-one interviews with former senior negotiators from the United States and South Korea, who gained unique knowledge about North Korean negotiating behavior by dealing directly with their high-level North Korean counterparts. These negotiators collectively represent a body of negotiation experience and expertise starting from the early 1990s to late 2019, when North Korea ceased all negotiations with the United States. During that time, the conditions for productive negotiation changed dramatically – indeed, the conditions for the 1994 U.S.-North Korea Agreed Framework negotiations were much more favorable than during the Six-Party Talks of the mid-2000s or the Season of Summits during 2018-2019. For the “Negotiating with North Korea: Key Lessons Learned from Negotiators’ Genesis Period” project, a spotlight was placed on former senior negotiators’ early-stage experience preparing for and engaging in negotiations with the North Koreans. In doing so, tacit knowledge was captured to serve as a resource for future negotiators to inform and accelerate their own genesis period. Full Article
sso The Iran-Russia Friendship Won't Wither Under Raisi's Successor By www.belfercenter.org Published On :: May 21, 2024 May 21, 2024 Nicole Grajewski describes former Iranian President Raisi’s hardline stance and his willingness to deepen ties with Russia as assets. Collaboration with a like-minded authoritarian with a bent for confronting the West proved particularly valuable after Russia invaded Ukraine. Full Article
sso Old and New Lessons from the Ukraine War By www.belfercenter.org Published On :: Jun 4, 2024 Jun 4, 2024 Joseph Nye Russia's war on Ukraine is still raging, and no one knows when or how it will end. Nonetheless, the past two years have borne out several predictions concerning what does and does not work in twenty-first-century conflicts involving major powers. Full Article
sso November Marks National Pet Cancer Awareness Month - Associates at VPI share their stories in honor of National Pet Cancer Awareness Month. [...] By www.multivu.com Published On :: 05 Nov 2014 13:22:00 EST Associates at VPI share their stories in honor of National Pet Cancer Awareness Month. Find out how you can help #CurePetCancer, visit www.CurePetCancer.com Full Article Banking Financial Services Insurance Not for Profit Broadcast Feed Announcements Corporate Social Responsibility Animals Pets MultiVu Video
sso Volvo Cars and Ericsson Developing Intelligent Media Streaming for Self-driving Cars - Volvo Cars and Ericsson developing intelligent media streaming for self-driving cars By www.multivu.com Published On :: 05 Jan 2016 12:00:00 EST Volvo Cars and Ericsson developing intelligent media streaming for self-driving cars Full Article Auto Computer Electronics Consumer Electronics Transportation Trucking Railroad New Products Services MultiVu Video
sso Cochlear Launches Industry's Smallest Bone Conduction Sound Processor with Innovative Technologies Designed to Make Listening Easier - Introducing the Cochlear� Baha� 5 System By www.multivu.com Published On :: 07 Apr 2015 14:55:00 EDT Get a sneak peak at the industry�s smallest and smartest bone conduction sound processor. Now the first hearing implant with Made for iPhone� technology. Full Article Healthcare Hospitals Medical Pharmaceuticals Medical Equipment New Products Services Broadcast Feed Announcements MultiVu Video
sso NBA All-Star Paul George Teams Up with American Stroke Association on Stroke Warning Sign PSAs - When I was 6 - :30 By www.multivu.com Published On :: 08 Apr 2015 15:10:00 EDT NBA All-Star Paul George was only 6-years-old when his mother suffered a stroke. They share their story to teach others the stroke warning signs. Full Article Advertising Healthcare Hospitals Medical Pharmaceuticals Publishing Information Services Broadcast Feed Announcements MultiVu Video
sso NEW DATA EVALUATING THE BOSTON SCIENTIFIC ELUVIA� DRUG-ELUTING VASCULAR STENT SYSTEM DEMONSTRATE 94.4 PERCENT PRIMARY PATENCY RATE AT NINE MONTHS - Hear from Professor Stefan M�ller-H�lsbeck, M.D., PhD, M By www.multivu.com Published On :: 28 Apr 2015 12:47:00 EDT Hear from Professor Stefan M�ller-H�lsbeck, M.D., PhD, MAJESTIC trial principal investigator Full Article Healthcare Hospitals Medical Pharmaceuticals Medical Equipment Broadcast Feed Announcements Clinical Trials Medical Discoveries MultiVu Video
sso American Association for Cancer Research National Survey Shows 74 Percent of Voters Want More Federal Funding for Cancer Research - AACR Survey and Cancer Progress Report 2015 Video By www.multivu.com Published On :: 16 Sep 2015 17:15:00 EDT AACR Survey and Cancer Progress Report 2015 Video Full Article Healthcare Hospitals Medical Pharmaceuticals Broadcast Feed Announcements Survey Polls & Research Domestic Policy MultiVu Video