Publications by authors named "Amy Blevins"

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now.

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Objective: Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies.

Methods: Following clinical diagnosis, we performed whole exome sequencing of the index cases and their parents.

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Article Synopsis
  • SPTBN1 gene encodes βII-spectrin, crucial for forming networks at plasma membranes, and its deficiency in mice leads to significant neurodevelopmental issues.
  • Heterozygous variants of SPTBN1 were identified in 29 individuals exhibiting a range of developmental challenges, including intellectual disabilities, language delays, and autistic features.
  • These variants weaken βII-spectrin stability and disrupt cellular organization, establishing SPTBN1 as a key contributor to certain neurodevelopmental syndromes.
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Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement in neurodevelopmental disorders (NDDs), we investigated the role of TAOK1 in neuronal function and collected a cohort of 23 individuals with mostly de novo variants in TAOK1 to further define the associated NDD. Here, we provide evidence for an important role for TAOK1 in neuronal function, showing that altered TAOK1 expression levels in the embryonic mouse brain affect neural migration in vivo, as well as neuronal maturation in vitro.

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Objectives: This research project aims to determine the potential differential impact of two curricular approaches to teaching evidence-based medicine (EBM) on student performance on an EBM assignment administered during the first year of clerkship. A meaningful result would be any statistically significant difference in scores on the assignment given to measure student performance.

Design: In order to assess and compare student learning under the different curricula, the principal investigator and a team of five faculty members blinded to assignment date and other possibly identifying details used a modified version of the previously validated Fresno rubric to retrospectively grade 3 years' worth of EBM assignments given to students in clerkship rotations 1-3 (n=481) during the Internal Medicine clerkship.

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Importance: An understanding of the incidence and outcomes of Clostridium difficile infection (CDI) in the United States can inform investments in prevention and treatment interventions.

Objective: To quantify the incidence of CDI and its associated hospital length of stay (LOS) in the United States using a systematic literature review and meta-analysis.

Data Sources: MEDLINE via Ovid, Cochrane Library Databases via Wiley, Cumulative Index of Nursing and Allied Health Complete via EBSCO Information Services, Scopus, and Web of Science were searched for studies published in the United States between 2000 and 2019 that evaluated CDI and its associated LOS.

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Over the years, library collections have vastly changed due to an ever-growing presence of resources available online. Many libraries have experienced a dramatic decrease in the circulation of physical materials with the shift to online availability of materials. It is of great value to ensure libraries are meeting the needs of their users, and this can be accomplished by identifying their information-seeking patterns.

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Background: Although acute myocardial infarction is a common cause of out-of-hospital cardiac arrest (OHCA), the role of early coronary angiography in OHCA remains uncertain. We conducted a meta-analysis of observational studies to determine the association of early coronary angiography with survival in OHCA.

Methods: We searched multiple electronic databases for published studies on early coronary angiography in OHCA between 1 January 1990 and 18 January 2017.

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Background: An important measure of successful sarcoma treatment is the surgical tumor margin, yet defining and reporting the tumor margin has remained a source of controversy. Our study sought to determine whether there is a need to be more specific in classifying a margin by distinguishing a 'close' margin, or if simply calling a margin positive or negative is sufficient.

Methods: We performed a comprehensive literature search in which all studies were reviewed independently by two separate reviewers.

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Background: Carbapenem-resistant Enterobacteriaceae (CRE) pose an urgent public health threat in the United States. An important step in planning and monitoring a national response to CRE is understanding its epidemiology and associated outcomes. We conducted a systematic literature review of studies that investigated incidence and outcomes of CRE infection in the US.

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In 2015, two librarians at the Hardin Library for the Health Sciences at the University of Iowa turned their dreams into a reality and secured funding to build a zombie-themed evidence-based medicine game. The game features a "choose your own adventure" style that takes students through a scenario where a disease outbreak is taking place and a resident is asked to use evidence-based medicine skills to select a screening and diagnostic tool to use on potentially infected patients. Feedback on the game has been positive, and future plans include building additional modules on therapy, harm, and prognosis.

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BACKGROUND Despite a reported worldwide increase, the incidence of extended-spectrum β-lactamase (ESBL) Escherichia coli and Klebsiella infections in the United States is unknown. Understanding the incidence and trends of ESBL infections will aid in directing research and prevention efforts. OBJECTIVE To perform a literature review to identify the incidence of ESBL-producing E.

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Background: Idiopathic hyperammonemia syndrome (IHS) is an uncommon, often deadly complication of solid organ transplantation. IHS cases in solid organ transplantation seem to occur predominantly in lung transplant (LTx) recipients. However, to the best of our knowledge, the occurrence of IHS has not been systematically evaluated.

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Aim: To systematically review reports on deceased-donor-lobar lung transplantation (ddLLTx) and uniformly describe size matching using the donor-to-recipient predicted-total lung-capacity (pTLC) ratio.

Methods: We set out to systematically review reports on ddLLTx and uniformly describe size matching using the donor-to-recipient pTLC ratio and to summarize reported one-year survival data of ddLLTx and conventional-LTx. We searched in PubMed, CINAHL EBSCO, Cochrane Database of Systematic Reviews Wiley (CDSR), Database of Abstracts of Reviews of Effects Wiley (DARE), Cochrane Central Register of Controlled Trials Wiley (CENTRAL), Scopus (which includes EMBASE abstracts), and Web of Science for original reports on ddLLTx.

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BACKGROUND Information about the health and economic impact of infections caused by vancomycin-resistant enterococci (VRE) can inform investments in infection prevention and development of novel therapeutics. OBJECTIVE To systematically review the incidence of VRE infection in the United States and the clinical and economic outcomes. METHODS We searched various databases for US studies published from January 1, 2000, through June 8, 2015, that evaluated incidence, mortality, length of stay, discharge to a long-term care facility, readmission, recurrence, or costs attributable to VRE infections.

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Background: We conducted a systematic review and network meta-analysis to examine comparative efficacy and tolerability of pharmacologic interventions for pulmonary arterial hypertension (PAH).

Methods: MEDLINE, the Cochrane Register, EMBASE, CINAHL, and clinicaltrials.gov were searched (January 1, 1990 to March 3, 2016).

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BACKGROUND Our objective was to estimate the per-infection and cumulative mortality and cost burden of multidrug-resistant (MDR) Acinetobacter healthcare-associated infections (HAIs) in the United States using data from published studies. METHODS We identified studies that estimated the excess cost, length of stay (LOS), or mortality attributable to MDR Acinetobacter HAIs. We generated estimates of the cost per HAI using 3 methods: (1) overall cost estimates, (2) multiplying LOS estimates by a cost per inpatient-day ($4,350) from the payer perspective, and (3) multiplying LOS estimates by a cost per inpatient-day from the hospital ($2,030) perspective.

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Due to an identified need for formal assessment, a small team of librarians designed and administered a survey to gauge the quality of customer service at their academic health sciences library. Though results did not drive major changes to services, several important improvements were implemented and a process was established to serve as a foundation for future use. This article details the assessment process used and lessons learned during the project.

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Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot-Marie-Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.

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This study reports the preliminary results of surgical treatment of bone bruise of the tibial plateau. Twelve patients underwent percutaneous screw fixation with a mean follow-up of 15 months. The mean duration of surgery was 15 minutes.

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Background: Several studies have reported on the co-occurrence of chronic obstructive pulmonary disease (COPD) and psychiatric conditions, with the most robust evidence base demonstrating an impact of comorbid anxiety and depression on COPD-related outcomes. In recent years, research has sought to determine if there is a co-occurrence between COPD and posttraumatic stress disorder (PTSD) as well as for associations between PTSD and COPD-related outcomes. To date, there have been no published reviews summarizing this emerging literature.

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A systematic literature review and meta-analysis was performed to identify effectiveness of mupirocin decolonization in prevention of Staphylococcus aureus infections, among nonsurgical settings. Of the 15 662 unique studies identified up to August 2015, 13 randomized controlled trials, 22 quasi-experimental studies, and 1 retrospective cohort study met the inclusion criteria. Studies were excluded if mupirocin was not used for decolonization, there was no control group, or the study was conducted in an outbreak setting.

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Background: Lung transplantation (LTx) can extend life expectancy and enhance the quality of life for select patients with end-stage lung disease. In the setting of donor lung shortage and waiting list mortality, the interest in donation after cardiocirculatory death (DCD) is increasing. We performed a systematic review and meta-analysis to compare outcomes between DCD and conventional donation after brain death (DBD).

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As distance education and blended learning grows, so does the need for health sciences librarians to become involved with course management systems. This article will provide some information on how to become involved with course management systems and will also provide information on a few of the more popular systems available.

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Background: A 600-mg loading dose (LD) of clopidogrel has been shown to be superior to a 300-mg LD in inhibiting platelet function. However, data for clinical superiority are limited, and there is a paucity of adequately powered randomized trials investigating this issue. This meta-analysis was performed to determine the optimal LD of clopidogrel in ST-elevation myocardial infarction patients treated with primary percutaneous coronary intervention.

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