Privacy-preserving genomic testing in the clinic: a model using HIV treatment

PURPOSE The implementation of genomic-based medicine is hindered by unresolved questions regarding data privacy and delivery of interpreted results to health-care practitioners. We used DNA-based prediction of HIV-related outcomes as a model to explore critical issues in clinical genomics. METHODS We genotyped 4,149 markers in HIV-positive individuals. Variants allowed for prediction of 17 traits relevant to HIV medical care, inference of patient ancestry, and imputation of human leukocyte antigen (HLA) types. Genetic data were processed under a privacy-preserving framework using homomorphic encryption, and clinical reports describing potentially actionable results were delivered to health-care providers. RESULTS A total of 230 patients were included in the study. We demonstrated the feasibility of encrypting a large number of genetic markers, inferring patient ancestry, computing monogenic and polygenic trait risks, and reporting results under privacy-preserving conditions. The average execution time of a multimarker test on encrypted data was 865 ms on a standard computer. The proportion of tests returning potentially actionable genetic results ranged from 0 to 54%. CONCLUSIONS The model of implementation presented herein informs on strategies to deliver genomic test results for clinical care. Data encryption to ensure privacy helps to build patient trust, a key requirement on the road to genomic-based medicine.Genet Med advance online publication 14 January 2016Genetics in Medicine (2016); doi:10.1038/gim.2015.167.

Dynamic intraligamentary stabilization: novel technique for preserving the ruptured ACL

PURPOSE Replacement of the torn anterior cruciate ligament (ACL) with a transplant is today`s gold standard. A new technique for preserving and healing the torn ACL is presented. HYPOTHESIS a dynamic intraligamentary stabilization (DIS) that provides continuous postinjury stability of the knee and ACL in combination with biological improvement of the healing environment [leucocyte- and platelet-rich fibrin (L-PRF) and microfracturing] should enable biomechanically stable ACL self-healing. METHODS Ten sportive patients were treated by DIS employing an internal stabilizer to keep the unstable knee in a posterior translation, combined with microfracturing and platelet-rich fibrin induction at the rupture site to promote self-healing. Postoperative clinical [Tegner, Lysholm, International Knee Documentation Committee (IKDC), visual analogue scale patient satisfaction score] and radiological evaluation, as well as assessment of knee laxity was performed at 6 weeks, 3, 6, 12, and 24 months. RESULTS One patient had a re-rupture 5 months postoperative and was hence excluded from further follow-ups. The other nine patients presented the following outcomes at 24 months: median Lysholm score of 100; IKDC score of 98 (97-100); median Tegner score of 6 (range 9-5); anterior translation difference of 1.4 mm (-1 to 3 mm); median satisfaction score of 9.8 (9-10). MRI showed scarring and continuity of the ligament in all patients. CONCLUSIONS DIS combined with microfracturing and L-PRF resulted in stable clinical and radiological healing of the torn ACL in all but one patient of this first series. They attained normal knee scores, reported excellent satisfaction and could return to their previous levels of sporting activity. LEVEL OF EVIDENCE Case series with no comparison group, Level IV.

Rethinking ERP-Outsourcing Decisions for Leveraging Technological and Preserving Business Knowledge

During the selection, implementation and stabilization phases, as well as the operations and optimization phase of an ERP system (ERP-lifecycle), numerous companies consider to utilize the support of an external service provider. This paper analyses how different categories of knowledge influence the sourcing decision of crucial tasks within the ERP lifecycle. Based on a review of the IS outsourcing literature, essential knowledge-related determinants for the IS outsourcing decision are presented and aggregated in a structural model. It will be hypothesized that internal deficits in technological knowledge in comparison to external vendors as well as the specificity of the synthesis of special technological and specific business knowledge have a profound impact on the outsourcing decision. Then, a classification framework will be developed which facilitates the assignment of various tasks within the ERP lifecycle to their respective knowledge categories and knowledge carriers which might be internal or external stakeholders. The configuaration task will be used as an example to illustrate how the structural model and the classification framework may be applied to evaluate the outsourcing of tasks within the ERP lifecycle.

Horizon shells and BMS-like soldering transformations

We revisit the theory of null shells in general relativity, with a particular emphasis on null shells placed at horizons of black holes. We study in detail the considerable freedom that is available in the case that one solders two metrics together across null hypersurfaces (such as Killing horizons) for which the induced metric is invariant under translations along the null generators. In this case the group of soldering transformations turns out to be infinite dimensional, and these solderings create non-trivial horizon shells containing both massless matter and impulsive gravitational wave components. We also rephrase this result in the language of Carrollian symmetry groups. To illustrate this phenomenon we discuss in detail the example of shells on the horizon of the Schwarzschild black hole (with equal interior and exterior mass), uncovering a rich classical structure at the horizon and deriving an explicit expression for the general horizon shell energy-momentum tensor. In the special case of BMS-like soldering supertranslations we find a conserved shell-energy that is strikingly similar to the standard expression for asymptotic BMS supertranslation charges, suggesting a direct relation between the physical properties of these horizon shells and the recently proposed BMS supertranslation hair of a black hole.

Cross-cultural equivalence and associations among food insecurity and parental influences of children's fruit and vegetable consumption

Over the past several decades, the prevalence of obesity has dramatically increased. Cause for concern has increased because overweight and obesity are major contributors to morbidity and mortality. Intervention research aimed at reducing the prevalence of obesity has identified the family, specifically the parent, as a key component of the home environment. However, findings from dietary behavior change interventions have been disheartening because few studies have reported meaningful change, suggesting methodological and/or measurement issues within the intervention process. A lack of appropriate mediators and cross-cultural equivalence may partially explain the reason for little change.^ The study aims were to (1) evaluate the psychometric properties and assess the cross cultural equivalence of the Food Insecurity Scale (paper 1) and the modified Parent Feeding Practices Questionnaire (paper 2) and to assess the overall relationships among food insecurity, parent mediators, and parent behaviors towards children's dietary behavior (paper 3) through structural equation modeling and tests of invariance. The study aims were accomplished through conducting secondary analyses using baseline data from English- and Spanish-speaking Hispanic women who participated in the Healthy Families: Step by Step (BHF) study.^ Results indicated that although the FIS and the mPFPQ exhibited sound psychometric properties, the instruments exhibited a lack of invariance across language spoken groups. The lack of invariance was more pronounced in the FIS. Results also supported the theoretical framework identifying parent's perceived barriers and self-efficacy as mediators of parent's behaviors toward improving children's health eating. Results did not suggest that the relationships were moderated by food insecurity.^ In conclusion, the identification of differential item functioning in food insecurity and parent feeding practices may be beneficial in enhancing tailored interventions through the incorporation of cultural differences into the change mechanisms. However, future research needs to be conducted to determine if the lack of invariance demonstrates the existence of item bias or if it is a reflection of true difference among the language spoken groups. Additionally, obesity intervention studies targeting parent/family barriers and parent self-efficacy to provide/encourage healthy diets may result in an increase in parent behaviors which promote healthy eating behaviors among children. Future research should also examine a more complete causal pathway to determine whether parental changes in the mediators ultimately lead to an increase in healthy dietary behavior among children.^

Preserving Family: Themes from a Qualitative Study of Kin Caregivers

This article presents themes from a qualitative study of 58 African American female kinship caregivers in San Francisco. Core concepts that emerged describe various paths along which children move into kin homes, and caregivers' mixed emotional reactions to becoming surrogate parents. Women also discussed multiple family roles they assumed after taking in children. Responses highlight three primary reasons for becoming caregivers that center on providing for and protecting these children—particularly from the perceived threat of the public foster care system—and ultimately preserving the family unit. Paradoxically, caregivers' reasons mirror the stated goals of the public foster care system, which they view as a threat to family stability. We discuss the problems of implementing practice and policy recommendations for permanency and family preservation and how to bridge the gap between the deeply held negative beliefs of African American caregivers towards the public system and begin to build trust.

Desafíos actuales del envejecer

Presentamos hallazgos sobre el envejecer en la actualidad y su entrecruzamiento con la participación en grupos. Señalamos la importancia de la educación permanente en la producción de subjetividad. Se destaca la contribución de las investigaciones referidas a la: docencia, extensión universitaria y formación de investigadores. Partimos del marco teórico de la psicología, se revisan los aportes interdisciplinarios que enriquecen el campo gerontológico. A partir de la longevidad se busca identificar las transformaciones del envejecer, el proceso de revisión identificatoria y el trabajo psíquico de revisar, cuestionar y transformar las significaciones simbólicas, a la par que hacer lugar a lo nuevo en relación con sus funciones: hombre/mujer; esposo/esposa; abuelo/abuela. Se emplea metodología cualitativa: entrevistas en profundidad, historias de vida, crónicas del funcionamiento grupal. Surge la preocupación constante y conciente de los mayores, por preservar su capacidad de desear, crear, producir y gozar, la búsqueda de realización personal y la interrelación con el medio, con los otros y con sus pares. Se observan lógicas propias que promueven la horizontalidad de los vínculos y presentan representaciones, sentidos y conductas que modifican el concepto tradicional del viejo. Se destaca la riqueza del encuentro intersubjetivo entre investigadores y entrevistados, en la elaboración de los cambios.

Desafíos actuales del envejecer

Presentamos hallazgos sobre el envejecer en la actualidad y su entrecruzamiento con la participación en grupos. Señalamos la importancia de la educación permanente en la producción de subjetividad. Se destaca la contribución de las investigaciones referidas a la: docencia, extensión universitaria y formación de investigadores. Partimos del marco teórico de la psicología, se revisan los aportes interdisciplinarios que enriquecen el campo gerontológico. A partir de la longevidad se busca identificar las transformaciones del envejecer, el proceso de revisión identificatoria y el trabajo psíquico de revisar, cuestionar y transformar las significaciones simbólicas, a la par que hacer lugar a lo nuevo en relación con sus funciones: hombre/mujer; esposo/esposa; abuelo/abuela. Se emplea metodología cualitativa: entrevistas en profundidad, historias de vida, crónicas del funcionamiento grupal. Surge la preocupación constante y conciente de los mayores, por preservar su capacidad de desear, crear, producir y gozar, la búsqueda de realización personal y la interrelación con el medio, con los otros y con sus pares. Se observan lógicas propias que promueven la horizontalidad de los vínculos y presentan representaciones, sentidos y conductas que modifican el concepto tradicional del viejo. Se destaca la riqueza del encuentro intersubjetivo entre investigadores y entrevistados, en la elaboración de los cambios.

Desafíos actuales del envejecer

Presentamos hallazgos sobre el envejecer en la actualidad y su entrecruzamiento con la participación en grupos. Señalamos la importancia de la educación permanente en la producción de subjetividad. Se destaca la contribución de las investigaciones referidas a la: docencia, extensión universitaria y formación de investigadores. Partimos del marco teórico de la psicología, se revisan los aportes interdisciplinarios que enriquecen el campo gerontológico. A partir de la longevidad se busca identificar las transformaciones del envejecer, el proceso de revisión identificatoria y el trabajo psíquico de revisar, cuestionar y transformar las significaciones simbólicas, a la par que hacer lugar a lo nuevo en relación con sus funciones: hombre/mujer; esposo/esposa; abuelo/abuela. Se emplea metodología cualitativa: entrevistas en profundidad, historias de vida, crónicas del funcionamiento grupal. Surge la preocupación constante y conciente de los mayores, por preservar su capacidad de desear, crear, producir y gozar, la búsqueda de realización personal y la interrelación con el medio, con los otros y con sus pares. Se observan lógicas propias que promueven la horizontalidad de los vínculos y presentan representaciones, sentidos y conductas que modifican el concepto tradicional del viejo. Se destaca la riqueza del encuentro intersubjetivo entre investigadores y entrevistados, en la elaboración de los cambios.

Late Oligocene rapid transformations in the South China Sea

Lithobiostratigraphic data indicate that the double reflectors on the seismic profile through Ocean Drilling Program (ODP) Site 1148 represent two unconformities that coincide, respectively, with the lower/upper Oligocene boundary at ~488 mcd, and Oligocene-Miocene boundary at 460 mcd. Two other unconformities, at ~478 and 472 mcd, respectively, were also identified within the upper Oligocene section. Together they erased a sediment record of about 3 Ma from this locality in a period of very active seafloor spreading. The existence of 32.8 Ma marine sediment at the terminated depth (850 mcd) indicates that the initial breakup of the South China Sea (SCS) was probably during 34-33 Ma, close to the Eocene-Oligocene boundary. High sedimentation rates of 60-115 m/my from the much expanded, N350 m lower Oligocene section resulted from rifting and rapid subsidence between 33 and 29 Ma. The mid-Oligocene unconformity at ~28.5 Ma, which also occurred in many parts of the Indo-West Pacific region, was probably related to a significant uplift of the Himalayan-Tibetan Plateau to the west and the initial collision between Indonesia and Australia in the south. A narrowed Indonesian seaway may have accounted for the late Oligocene warming and chalk deposition in the northern South China Sea including the Site 1148 locality. The unconformities and slumps near the Oligocene-Miocene boundary indicate a very unstable tectonic regime, probably corresponding to changes in the rotation of different land blocks and the seafloor spreading ridge from nearly E-W to NE-SW, as recognized earlier at magnetic Anomaly 7. This 25 Ma event also saw the first New Guinea terrane docking at the northern Australian craton. The low sedimentation rate of ~15 m/my in the early to middle Miocene may correspond to another period of rapid seafloor spreading and rapid widespread subsidence that effectively caused sediment source areas to retreat with a rapidly rising sea level. The isostatic nature of these late Oligocene unconformities and slumps with several major collision-uplift events indicate that the rapid changes in the early evolutionary history of the South China Sea were mainly responding to regional tectonic reconfiguration including the uplift-driven southeast extrusion of the Indochina subcontinent.