98 research outputs found

    “IT’S EASY TO ASSUME THAT THEY’RE OKAY”: GENETIC COUNSELORS’ WILLINGNESS AND PREPAREDNESS TO DISCUSS THE INTERPERSONAL AND PSYCHOLOGICAL EFFECTS OF MISCARRIAGE

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    This exploratory study aimed to examine genetic counselors’ perspectives on and practices related to the psychological and interpersonal effects of miscarriage. Miscarriage is frequently uncovered in genetic counseling sessions during the taking of a pregnancy history, and given that the genetic counseling profession places a high level of importance on psychosocial counseling, it is relevant to consider whether and how such information is discussed within the session. This study consisted of an online survey of 200 prenatal genetic counselors and semi-structured interviews with a subset of 25 genetic counselors recruited via the National Society of Genetic Counselors Listserv. The aims were to assess genetic counselors’ perspectives on the psychological and interpersonal effects of miscarriage and their preparedness to discuss the effects. This study also aimed to identify the most pertinent barriers to effective discussion of the impact of miscarriage. On the whole, survey results indicate that genetic counselors have a strong appreciation for the psychological effects of miscarriage and feel prepared to discuss it. However, when taken in the context of the qualitative findings, the results suggest that genetic counselors may be unaware of or reluctant to admit the areas in which they feel less prepared. Overall, our findings indicate that a training intervention for genetic counselors may be warranted

    Trends in the surgical management of diverticulitis

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    Abstract Sigmoid diverticulitis is an increasingly common Western disease associated with a high morbidity and cost of treatment. Improvement in the understanding of the disease process, along with advances in the diagnosis and medical management has led to recent changes in treatment recommendations. Th e natural history of diverticulitis is more benign than previously thought, and current trends favor more conservative, less invasive management. Despite current recommendations of more restrictive indications for surgery, practice trends indicate an increase in elective operations being performed for the treatment of diverticulitis. Due to diversity in disease presentation, in many cases, optimal surgical treatment of acute diverticulitis remains unclear with regard to patient selection, timing, and technical approach in both elective and urgent settings. As a result, data is limited to mostly retrospective and non-randomized studies. Th is review addresses the current treatment recommendations for surgical management of diverticulitis, highlighting technical aspects and patterns of care

    Surgical rates for Crohn’s Disease are decreasing: a population-based time trend analysis and validation study

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    Objectives: Temporal changes for intestinal resections for Crohn’s disease (CD) are controversial. We validated administrative database codes for CD diagnosis and surgery in hospitalized patients and then evaluated temporal trends in CD surgical resection rates. Methods: First, we validated International Classification of Disease (ICD)-10-CM coding for CD diagnosis in hospitalized patients and Canadian Classification of Health Intervention coding for surgical resections. Second, we used these validated codes to conduct population-based surveillance between fiscal years 2002 and 2010 to identify adult CD patients undergoing intestinal resection (n=981). Annual surgical rate was calculated by dividing incident surgeries by estimated CD prevalence. Time trend analysis was performed and annual percent change (APC) with 95% confidence intervals (CI) in surgical resection rates were calculated using a generalized linear model assuming a Poisson distribution. Results: In the validation cohort, 101/104 (97.1%) patients undergoing surgery and 191/200 (95.5%) patients admitted without surgery were confirmed to have CD on chart review. Among the 116 administrative database codes for surgical resection, 97.4% were confirmed intestinal resections on chart review. From 2002 to 2010, the overall CD surgical resection rate was 3.8 resections per 100 person-years. During the study period, rate of surgery decreased by 3.5% per year (95% CI: -1.1%, -5.8%), driven by decreasing emergent operations (-10.1% per year [95% CI: -13.4%, -6.7%]) whereas elective surgeries increased by 3.7% per year (95% CI: 0.1%, 7.3%). Conclusions: Overall surgical resection rates in CD are decreasing, but a paradigm shift has occurred whereby elective operations are now more commonly performed than emergent surgeries

    Probabilistic modeling of personalized drug combinations from integrated chemical screen and molecular data in sarcoma

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    BACKGROUND: Cancer patients with advanced disease routinely exhaust available clinical regimens and lack actionable genomic medicine results, leaving a large patient population without effective treatments options when their disease inevitably progresses. To address the unmet clinical need for evidence-based therapy assignment when standard clinical approaches have failed, we have developed a probabilistic computational modeling approach which integrates molecular sequencing data with functional assay data to develop patient-specific combination cancer treatments. METHODS: Tissue taken from a murine model of alveolar rhabdomyosarcoma was used to perform single agent drug screening and DNA/RNA sequencing experiments; results integrated via our computational modeling approach identified a synergistic personalized two-drug combination. Cells derived from the primary murine tumor were allografted into mouse models and used to validate the personalized two-drug combination. Computational modeling of single agent drug screening and RNA sequencing of multiple heterogenous sites from a single patient's epithelioid sarcoma identified a personalized two-drug combination effective across all tumor regions. The heterogeneity-consensus combination was validated in a xenograft model derived from the patient's primary tumor. Cell cultures derived from human and canine undifferentiated pleomorphic sarcoma were assayed by drug screen; computational modeling identified a resistance-abrogating two-drug combination common to both cell cultures. This combination was validated in vitro via a cell regrowth assay. RESULTS: Our computational modeling approach addresses three major challenges in personalized cancer therapy: synergistic drug combination predictions (validated in vitro and in vivo in a genetically engineered murine cancer model), identification of unifying therapeutic targets to overcome intra-tumor heterogeneity (validated in vivo in a human cancer xenograft), and mitigation of cancer cell resistance and rewiring mechanisms (validated in vitro in a human and canine cancer model). CONCLUSIONS: These proof-of-concept studies support the use of an integrative functional approach to personalized combination therapy prediction for the population of high-risk cancer patients lacking viable clinical options and without actionable DNA sequencing-based therapy

    “IT’S EASY TO ASSUME THAT THEY’RE OKAY”: GENETIC COUNSELORS’ WILLINGNESS AND PREPAREDNESS TO DISCUSS THE INTERPERSONAL AND PSYCHOLOGICAL EFFECTS OF MISCARRIAGE

    No full text
    This exploratory study aimed to examine genetic counselors’ perspectives on and practices related to the psychological and interpersonal effects of miscarriage. Miscarriage is frequently uncovered in genetic counseling sessions during the taking of a pregnancy history, and given that the genetic counseling profession places a high level of importance on psychosocial counseling, it is relevant to consider whether and how such information is discussed within the session. This study consisted of an online survey of 200 prenatal genetic counselors and semi-structured interviews with a subset of 25 genetic counselors recruited via the National Society of Genetic Counselors Listserv. The aims were to assess genetic counselors’ perspectives on the psychological and interpersonal effects of miscarriage and their preparedness to discuss the effects. This study also aimed to identify the most pertinent barriers to effective discussion of the impact of miscarriage. On the whole, survey results indicate that genetic counselors have a strong appreciation for the psychological effects of miscarriage and feel prepared to discuss it. However, when taken in the context of the qualitative findings, the results suggest that genetic counselors may be unaware of or reluctant to admit the areas in which they feel less prepared. Overall, our findings indicate that a training intervention for genetic counselors may be warranted

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